1 m.3T>C 3 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 2 m.7A>G 7 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7_A/G heter - intergenic_variant - - MODIFIER SNV - - - - - 3 m.8G>T 8 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8_G/T homo - intergenic_variant - - MODIFIER SNV - - - - - 4 m.9G>A 9 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 5 m.10T>C 10 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_10_T/C homo - intergenic_variant - rs879233578 MODIFIER SNV - - - - - 6 m.12T>C 12 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7 m.16A>T 16 A T 17 0.002339664 1 0.000137627 7266 0.002477291 MT_16_A/T homo&heter - intergenic_variant - rs1556422363 MODIFIER SNV - - - - - 8 m.18C>T 18 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_18_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 9 m.26C>T 26 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_26_C/T homo - intergenic_variant - rs879071945 MODIFIER SNV - - - - - 10 m.35G>A 35 G A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_35_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 11 m.40T>C 40 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_40_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 12 m.41C>CT 41 C CT 1 0.000137627 0 0.000000000 7266 0.000137627 MT_42_-/T homo - intergenic_variant - - MODIFIER insertion - - - - - 13 m.41C>T 41 C T 19 0.002614919 0 0.000000000 7266 0.002614919 MT_41_C/T homo - intergenic_variant - rs879100564 MODIFIER SNV - - - - - 14 m.42T>C 42 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_42_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 15 m.42T>TC 42 T TC 13 0.001789155 0 0.000000000 7266 0.001789155 MT_43_-/C homo - intergenic_variant - - MODIFIER insertion - - - - - 16 m.42T>TG 42 T TG 3 0.000412882 0 0.000000000 7266 0.000412882 MT_43_-/G homo - intergenic_variant - - MODIFIER insertion - - - - - 17 m.46T>C 46 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_46_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 18 m.47G>A 47 G A 7 0.000963391 0 0.000000000 7266 0.000963391 MT_47_G/A homo - intergenic_variant - rs1556422364 MODIFIER SNV - - - - - 19 m.51T>C 51 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_51_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 20 m.51T>TCA 51 T TCA 1 0.000137627 0 0.000000000 7266 0.000137627 MT_52_-/CA homo - intergenic_variant - - MODIFIER insertion - - - - - 21 m.52T>C 52 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_52_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 22 m.52TGG>T 52 TGG T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_53_GG/- homo - intergenic_variant - - MODIFIER deletion - - - - - 23 m.53G>A 53 G A 7 0.000963391 0 0.000000000 7266 0.000963391 MT_53_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 24 m.54G>A 54 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_54_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 25 m.54G>C 54 G C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_54_G/C homo - intergenic_variant - - MODIFIER SNV - - - - - 26 m.54G>T 54 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_54_G/T homo - intergenic_variant - - MODIFIER SNV - - - - - 27 m.55T>A 55 T A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_55_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 28 m.55T>C 55 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_55_T/C homo - intergenic_variant - rs1556422366 MODIFIER SNV - - - - - 29 m.55T>TA 55 T TA 0 0.000000000 1 0.000137627 7266 0.000137627 MT_56_-/A heter - intergenic_variant - - MODIFIER insertion - - - - - 30 m.55TA>T 55 TA T 13 0.001789155 0 0.000000000 7266 0.001789155 MT_56_A/- homo - intergenic_variant - - MODIFIER deletion - - - - - 31 m.56A>AC 56 A AC 7 0.000963391 0 0.000000000 7266 0.000963391 MT_57_-/C homo - intergenic_variant - - MODIFIER insertion - - - - - 32 m.56A>AT 56 A AT 2 0.000275255 0 0.000000000 7266 0.000275255 MT_57_-/T homo - intergenic_variant - - MODIFIER insertion - - - - - 33 m.56A>G 56 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_56_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 34 m.56ATT>A 56 ATT A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_57_TT/- homo - intergenic_variant - - MODIFIER deletion - - - - - 35 m.57T>C 57 T C 9 0.001238646 1 0.000137627 7266 0.001376273 MT_57_T/C homo&heter - intergenic_variant - rs1556422368 MODIFIER SNV - - - - - 36 m.57T>G 57 T G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_57_T/G homo - intergenic_variant - - MODIFIER SNV - - - - - 37 m.57T>TC 57 T TC 1 0.000137627 0 0.000000000 7266 0.000137627 MT_58_-/C homo - intergenic_variant - - MODIFIER insertion - - - - - 38 m.58T>A 58 T A 13 0.001789155 0 0.000000000 7266 0.001789155 MT_58_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 39 m.58T>C 58 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_58_T/C homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 40 m.59T>A 59 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_59_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 41 m.59T>C 59 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_59_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 42 m.59T>TG 59 T TG 0 0.000000000 1 0.000137627 7266 0.000137627 MT_60_-/G heter - intergenic_variant - - MODIFIER insertion - - - - - 43 m.60T>A 60 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_60_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 44 m.61C>A 61 C A 8 0.001101018 0 0.000000000 7266 0.001101018 MT_61_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 45 m.61C>T 61 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_61_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 46 m.61CG>C 61 CG C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_62_G/- homo - intergenic_variant - - MODIFIER deletion - - - - - 47 m.62G>A 62 G A 15 0.002064410 0 0.000000000 7266 0.002064410 MT_62_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 48 m.62G>C 62 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_62_G/C heter - intergenic_variant - - MODIFIER SNV - - - - - 49 m.62G>T 62 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_62_G/T homo - intergenic_variant - - MODIFIER SNV - - - - - 50 m.63T>A 63 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_63_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 51 m.63T>C 63 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_63_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 52 m.64C>A 64 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_64_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 53 m.64C>CT 64 C CT 10 0.001376273 0 0.000000000 7266 0.001376273 MT_65_-/T homo - intergenic_variant - - MODIFIER insertion - - - - - 54 m.64C>T 64 C T 177 0.024360033 7 0.000963391 7266 0.025323424 MT_64_C/T homo&heter - intergenic_variant - rs3883917 MODIFIER SNV - - - - - 55 m.64CT>C 64 CT C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_65_T/- homo - intergenic_variant - - MODIFIER deletion - - - - - 56 m.65T>A 65 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_65_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 57 m.65T>C 65 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_65_T/C homo - intergenic_variant - rs1556422370 MODIFIER SNV - - - - - 58 m.65T>G 65 T G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_65_T/G homo - intergenic_variant - - MODIFIER SNV - - - - - 66 m.72T>C 72 T C 31 0.004266446 1 0.000137627 7266 0.004404074 MT_72_T/C homo&heter - intergenic_variant - rs879158303 MODIFIER SNV - - - - - 67 m.72T>G 72 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_72_T/G homo - intergenic_variant - - MODIFIER SNV - - - - - 68 m.73A>C 73 A C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_73_A/C homo - intergenic_variant - - MODIFIER SNV - - - - - 69 m.73A>G 73 A G 6837 0.940957886 0 0.000000000 7266 0.940957886 MT_73_A/G homo - intergenic_variant - rs869183622 MODIFIER SNV - - - - - 70 m.75G>A 75 G A 6 0.000825764 0 0.000000000 7266 0.000825764 MT_75_G/A homo - intergenic_variant - rs1556422372 MODIFIER SNV - - - - - 71 m.76C>T 76 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_76_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 72 m.78C>T 78 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_78_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 73 m.79G>T 79 G T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_79_G/T homo - intergenic_variant - - MODIFIER SNV - - - - - 74 m.89T>C 89 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_89_T/C homo - intergenic_variant - rs878950380 MODIFIER SNV - - - - - 75 m.90G>A 90 G A 7 0.000963391 0 0.000000000 7266 0.000963391 MT_90_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 76 m.91C>CG 91 C CG 1 0.000137627 0 0.000000000 7266 0.000137627 MT_92_-/G homo - intergenic_variant - - MODIFIER insertion - - - - - 77 m.92G>A 92 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_92_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 78 m.92G>GA 92 G GA 2 0.000275255 0 0.000000000 7266 0.000275255 MT_93_-/A homo - intergenic_variant - - MODIFIER insertion - - - - - 79 m.93A>G 93 A G 200 0.027525461 0 0.000000000 7266 0.027525461 MT_93_A/G homo - intergenic_variant - rs369034419 MODIFIER SNV - - - - - 80 m.94G>A 94 G A 65 0.008945775 0 0.000000000 7266 0.008945775 MT_94_G/A homo - intergenic_variant - rs879093605 MODIFIER SNV - - - - - 81 m.95A>C 95 A C 27 0.003715937 0 0.000000000 7266 0.003715937 MT_95_A/C homo - intergenic_variant - rs879228370 MODIFIER SNV - - - - - 82 m.95A>T 95 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_95_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 83 m.97G>A 97 G A 9 0.001238646 0 0.000000000 7266 0.001238646 MT_97_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 84 m.97G>C 97 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_97_G/C heter - intergenic_variant - - MODIFIER SNV - - - - - 85 m.97G>T 97 G T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_97_G/T heter - intergenic_variant - - MODIFIER SNV - - - - - 86 m.99TGGAGCC>T 99 TGGAGCC T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_100_GGAGCC/- homo - intergenic_variant - - MODIFIER deletion - - - - - 87 m.103G>A 103 G A 84 0.011560694 0 0.000000000 7266 0.011560694 MT_103_G/A homo - intergenic_variant - rs369070397 MODIFIER SNV - - - - - 88 m.103G>T 103 G T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_103_G/T homo - intergenic_variant - - MODIFIER SNV - - - - - 89 m.105CGGAGCA>C 105 CGGAGCA C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_106_GGAGCA/- homo - intergenic_variant - - MODIFIER deletion - - - - - 90 m.106G>A 106 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_106_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 91 m.111A>G 111 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_111_A/G homo - intergenic_variant - rs1556422374 MODIFIER SNV - - - - - 92 m.112C>T 112 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_112_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 93 m.113C>T 113 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_113_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 94 m.114C>G 114 C G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_114_C/G homo - intergenic_variant - - MODIFIER SNV - - - - - 95 m.114C>T 114 C T 8 0.001101018 2 0.000275255 7266 0.001376273 MT_114_C/T homo&heter - intergenic_variant - rs879102890 MODIFIER SNV - - - - - 96 m.119T>C 119 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_119_T/C homo - intergenic_variant - rs1556422375 MODIFIER SNV - - - - - 97 m.125T>C 125 T C 24 0.003303055 0 0.000000000 7266 0.003303055 MT_125_T/C homo - intergenic_variant - rs144402189 MODIFIER SNV - - - - - 98 m.125T>G 125 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_125_T/G homo - intergenic_variant - rs144402189 MODIFIER SNV - - - - - 99 m.127T>C 127 T C 24 0.003303055 0 0.000000000 7266 0.003303055 MT_127_T/C homo - intergenic_variant - rs1556422377 MODIFIER SNV - - - - - 100 m.128C>T 128 C T 14 0.001926782 0 0.000000000 7266 0.001926782 MT_128_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 101 m.131T>C 131 T C 37 0.005092210 0 0.000000000 7266 0.005092210 MT_131_T/C homo - intergenic_variant - rs878935318 MODIFIER SNV - - - - - 102 m.139T>C 139 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_139_T/C homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 103 m.140C>T 140 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_140_C/T homo - intergenic_variant - rs1556422378 MODIFIER SNV - - - - - 104 m.143G>A 143 G A 208 0.028626479 3 0.000412882 7266 0.029039361 MT_143_G/A homo&heter - intergenic_variant - rs375589100 MODIFIER SNV - - - - - 105 m.146T>A 146 T A 22 0.003027801 0 0.000000000 7266 0.003027801 MT_146_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 106 m.146T>C 146 T C 1218 0.167630058 29 0.003991192 7266 0.171621250 MT_146_T/C homo&heter - intergenic_variant - rs370482130 MODIFIER SNV - - - - - 107 m.149TCC>T 149 TCC T 20 0.002752546 0 0.000000000 7266 0.002752546 MT_150_CC/- homo - intergenic_variant - - MODIFIER deletion - - - - - 108 m.150C>T 150 C T 1512 0.208092486 4 0.000550509 7266 0.208642995 MT_150_C/T homo&heter - intergenic_variant - rs62581312 MODIFIER SNV - - - - - 109 m.151C>G 151 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_151_C/G homo - intergenic_variant - - MODIFIER SNV - - - - - 110 m.151C>T 151 C T 270 0.037159372 4 0.000550509 7266 0.037709882 MT_151_C/T homo&heter - intergenic_variant - rs879131641 MODIFIER SNV - - - - - 111 m.152T>C 152 T C 2097 0.288604459 33 0.004541701 7266 0.293146160 MT_152_T/C homo&heter - intergenic_variant - rs117135796 MODIFIER SNV - - - - - 112 m.152T>TTC 152 T TTC 20 0.002752546 0 0.000000000 7266 0.002752546 MT_153_-/TC homo - intergenic_variant - - MODIFIER insertion - - - - - 113 m.153A>G 153 A G 258 0.035507845 4 0.000550509 7266 0.036058354 MT_153_A/G homo&heter - intergenic_variant - rs370716192 MODIFIER SNV - - - - - 114 m.154T>C 154 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_154_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 115 m.156A>G 156 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_156_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 116 m.159T>C 159 T C 25 0.003440683 0 0.000000000 7266 0.003440683 MT_159_T/C homo - intergenic_variant - rs879114819 MODIFIER SNV - - - - - 117 m.165A>G 165 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_165_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 118 m.173T>C 173 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_173_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 119 m.174C>T 174 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_174_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 120 m.178A>G 178 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_178_A/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 121 m.179T>C 179 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_179_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 122 m.182C>T 182 C T 320 0.044040738 3 0.000412882 7266 0.044453620 MT_182_C/T homo&heter - intergenic_variant - rs41473347 MODIFIER SNV - - - - - 123 m.183A>G 183 A G 51 0.007018993 2 0.000275255 7266 0.007294247 MT_183_A/G homo&heter - intergenic_variant - rs113913230 MODIFIER SNV - - - - - 124 m.184G>A 184 G A 7 0.000963391 0 0.000000000 7266 0.000963391 MT_184_G/A homo - intergenic_variant - rs1556422383 MODIFIER SNV - - - - - 125 m.185G>A 185 G A 199 0.027387834 1 0.000137627 7266 0.027525461 MT_185_G/A homo&heter - intergenic_variant - rs879015046 MODIFIER SNV - - - - - 126 m.185G>C 185 G C 14 0.001926782 0 0.000000000 7266 0.001926782 MT_185_G/C homo - intergenic_variant - - MODIFIER SNV - - - - - 127 m.185G>T 185 G T 111 0.015276631 0 0.000000000 7266 0.015276631 MT_185_G/T homo - intergenic_variant - rs879015046 MODIFIER SNV - - - - - 128 m.186C>A 186 C A 56 0.007707129 0 0.000000000 7266 0.007707129 MT_186_C/A homo - intergenic_variant - rs368807878 MODIFIER SNV - - - - - 129 m.186C>T 186 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_186_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 130 m.187G>T 187 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_187_G/T homo - intergenic_variant - - MODIFIER SNV - - - - - 131 m.188A>G 188 A G 24 0.003303055 1 0.000137627 7266 0.003440683 MT_188_A/G homo&heter - intergenic_variant - rs879189276 MODIFIER SNV - - - - - 132 m.188A>T 188 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_188_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 133 m.189A>C 189 A C 66 0.009083402 0 0.000000000 7266 0.009083402 MT_189_A/C homo - intergenic_variant - rs371543232 MODIFIER SNV - - - - - 134 m.189A>G 189 A G 342 0.047068538 10 0.001376273 7266 0.048444811 MT_189_A/G homo&heter - intergenic_variant - rs371543232 MODIFIER SNV - - - - - 135 m.190C>CA 190 C CA 7 0.000963391 0 0.000000000 7266 0.000963391 MT_191_-/A homo - intergenic_variant - - MODIFIER insertion - - - - - 136 m.191A>C 191 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_191_A/C heter - intergenic_variant - - MODIFIER SNV - - - - - 137 m.193A>G 193 A G 19 0.002614919 0 0.000000000 7266 0.002614919 MT_193_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 138 m.193ACT>A 193 ACT A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_194_CT/- homo - intergenic_variant - - MODIFIER deletion - - - - - 139 m.194C>T 194 C T 172 0.023671897 6 0.000825764 7266 0.024497660 MT_194_C/T homo&heter - intergenic_variant - rs879099337 MODIFIER SNV - - - - - 140 m.195T>A 195 T A 37 0.005092210 0 0.000000000 7266 0.005092210 MT_195_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 141 m.195T>C 195 T C 1170 0.161023947 33 0.004541701 7266 0.165565648 MT_195_T/C homo&heter - intergenic_variant - rs2857291 MODIFIER SNV - - - - - 142 m.196T>C 196 T C 11 0.001513900 0 0.000000000 7266 0.001513900 MT_196_T/C homo - intergenic_variant - rs879150462 MODIFIER SNV - - - - - 143 m.196T>TCC 196 T TCC 2 0.000275255 0 0.000000000 7266 0.000275255 MT_197_-/CC homo - intergenic_variant - - MODIFIER insertion - - - - - 144 m.197A>G 197 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_197_A/G homo - intergenic_variant - rs1556422393 MODIFIER SNV - - - - - 145 m.198C>T 198 C T 225 0.030966144 1 0.000137627 7266 0.031103771 MT_198_C/T homo&heter - intergenic_variant - rs879040416 MODIFIER SNV - - - - - 146 m.199T>C 199 T C 481 0.066198734 1 0.000137627 7266 0.066336361 MT_199_T/C homo&heter - intergenic_variant - rs72619362 MODIFIER SNV - - - - - 147 m.200A>G 200 A G 246 0.033856317 7 0.000963391 7266 0.034819708 MT_200_A/G homo&heter - intergenic_variant - rs372099630 MODIFIER SNV - - - - - 148 m.201A>G 201 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_201_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 149 m.202A>G 202 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_202_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 150 m.203G>A 203 G A 23 0.003165428 0 0.000000000 7266 0.003165428 MT_203_G/A homo - intergenic_variant - rs1556422396 MODIFIER SNV - - - - - 151 m.203G>C 203 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_203_G/C homo - intergenic_variant - - MODIFIER SNV - - - - - 152 m.204T>A 204 T A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_204_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 153 m.204T>C 204 T C 364 0.050096339 33 0.004541701 7266 0.054638040 MT_204_T/C homo&heter - intergenic_variant - rs3135032 MODIFIER SNV - - - - - 154 m.205G>A 205 G A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_205_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 155 m.207G>A 207 G A 338 0.046518029 7 0.000963391 7266 0.047481420 MT_207_G/A homo&heter - intergenic_variant - rs369669319 MODIFIER SNV - - - - - 156 m.208T>C 208 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_208_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 157 m.209T>C 209 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_209_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 158 m.210A>G 210 A G 134 0.018442059 0 0.000000000 7266 0.018442059 MT_210_A/G homo - intergenic_variant - rs368534078 MODIFIER SNV - - - - - 159 m.211A>G 211 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_211_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 160 m.214A>G 214 A G 92 0.012661712 5 0.000688137 7266 0.013349849 MT_214_A/G homo&heter - intergenic_variant - rs878957026 MODIFIER SNV - - - - - 161 m.214A>T 214 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_214_A/T heter - intergenic_variant - - MODIFIER SNV - - - - - 162 m.215A>G 215 A G 56 0.007707129 8 0.001101018 7266 0.008808148 MT_215_A/G homo&heter - intergenic_variant - rs879219259 MODIFIER SNV - - - - - 163 m.217T>C 217 T C 55 0.007569502 0 0.000000000 7266 0.007569502 MT_217_T/C homo - intergenic_variant - rs41531144 MODIFIER SNV - - - - - 164 m.222C>T 222 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_222_C/T homo - intergenic_variant - rs1556422401 MODIFIER SNV - - - - - 165 m.225G>A 225 G A 12 0.001651528 1 0.000137627 7266 0.001789155 MT_225_G/A homo&heter - intergenic_variant - rs372946833 MODIFIER SNV - - - - - 166 m.225G>T 225 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_225_G/T homo - intergenic_variant - - MODIFIER SNV - - - - - 167 m.226T>C 226 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_226_T/C homo - intergenic_variant - rs879225352 MODIFIER SNV - - - - - 168 m.227A>G 227 A G 7 0.000963391 1 0.000137627 7266 0.001101018 MT_227_A/G homo&heter - intergenic_variant - rs1556422402 MODIFIER SNV - - - - - 169 m.227A>T 227 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_227_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 170 m.228G>A 228 G A 55 0.007569502 1 0.000137627 7266 0.007707129 MT_228_G/A homo&heter - intergenic_variant - rs41323649 MODIFIER SNV - - - - - 171 m.228G>T 228 G T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_228_G/T homo - intergenic_variant - - MODIFIER SNV - - - - - 172 m.234A>G 234 A G 63 0.008670520 13 0.001789155 7266 0.010459675 MT_234_A/G homo&heter - intergenic_variant - rs368463610 MODIFIER SNV - - - - - 173 m.235A>G 235 A G 512 0.070465180 0 0.000000000 7266 0.070465180 MT_235_A/G homo - intergenic_variant - rs3937037 MODIFIER SNV - - - - - 174 m.236T>C 236 T C 66 0.009083402 0 0.000000000 7266 0.009083402 MT_236_T/C homo - intergenic_variant - rs375896687 MODIFIER SNV - - - - - 175 m.237A>G 237 A G 11 0.001513900 1 0.000137627 7266 0.001651528 MT_237_A/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 176 m.238A>G 238 A G 2 0.000275255 2 0.000275255 7266 0.000550509 MT_238_A/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 177 m.239T>C 239 T C 35 0.004816956 2 0.000275255 7266 0.005092210 MT_239_T/C homo&heter - intergenic_variant - rs879149197 MODIFIER SNV - - - - - 178 m.240A>G 240 A G 7 0.000963391 1 0.000137627 7266 0.001101018 MT_240_A/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 179 m.241A>G 241 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_241_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 180 m.242C>T 242 C T 14 0.001926782 0 0.000000000 7266 0.001926782 MT_242_C/T homo - intergenic_variant - rs1556422403 MODIFIER SNV - - - - - 181 m.244A>G 244 A G 11 0.001513900 1 0.000137627 7266 0.001651528 MT_244_A/G homo&heter - intergenic_variant - rs376013487 MODIFIER SNV - - - - - 182 m.245T>A 245 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_245_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 183 m.246T>C 246 T C 26 0.003578310 0 0.000000000 7266 0.003578310 MT_246_T/C homo - intergenic_variant - rs372529808 MODIFIER SNV - - - - - 184 m.246TG>T 246 TG T 13 0.001789155 0 0.000000000 7266 0.001789155 MT_247_G/- homo - intergenic_variant - - MODIFIER deletion - - - - - 185 m.247G>A 247 G A 231 0.031791908 0 0.000000000 7266 0.031791908 MT_247_G/A homo - intergenic_variant - rs41334645 MODIFIER SNV - - - - - 186 m.247GA>G 247 GA G 1125 0.154830718 0 0.000000000 7266 0.154830718 MT_248_A/- homo - intergenic_variant - rs879043227 MODIFIER deletion - - - - - 187 m.248A>G 248 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_248_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 188 m.249A>G 249 A G 5 0.000688137 2 0.000275255 7266 0.000963391 MT_249_A/G homo&heter - intergenic_variant - rs1556422405 MODIFIER SNV - - - - - 189 m.250T>C 250 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_250_T/C homo - intergenic_variant - rs1556422406 MODIFIER SNV - - - - - 190 m.251G>A 251 G A 8 0.001101018 2 0.000275255 7266 0.001376273 MT_251_G/A homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 191 m.252T>C 252 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_252_T/C homo - intergenic_variant - rs1556422407 MODIFIER SNV - - - - - 192 m.256C>T 256 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_256_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 193 m.257A>G 257 A G 11 0.001513900 0 0.000000000 7266 0.001513900 MT_257_A/G homo - intergenic_variant - rs879026340 MODIFIER SNV - - - - - 194 m.258CA>C 258 CA C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_259_A/- heter - intergenic_variant - - MODIFIER deletion - - - - - 195 m.259A>G 259 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_259_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 196 m.260G>A 260 G A 15 0.002064410 1 0.000137627 7266 0.002202037 MT_260_G/A homo&heter - intergenic_variant - rs1556422408 MODIFIER SNV - - - - - 197 m.262C>T 262 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_262_C/T homo - intergenic_variant - rs1556422409 MODIFIER SNV - - - - - 198 m.263A>G 263 A G 7148 0.983759978 1 0.000137627 7266 0.983897605 MT_263_A/G homo&heter - intergenic_variant - rs2853515 MODIFIER SNV - - - - not_provided 199 m.264C>T 264 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_264_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 200 m.265T>C 265 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_265_T/C heter - intergenic_variant - - MODIFIER SNV - - - - - 201 m.266T>C 266 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_266_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 202 m.267T>C 267 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_267_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 203 m.269C>T 269 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_269_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 204 m.270A>G 270 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_270_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 205 m.271C>T 271 C T 14 0.001926782 0 0.000000000 7266 0.001926782 MT_271_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 206 m.272A>G 272 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_272_A/G homo - intergenic_variant - rs1556422410 MODIFIER SNV - - - - - 207 m.273C>T 273 C T 0 0.000000000 2 0.000275255 7266 0.000275255 MT_273_C/T heter - intergenic_variant - - MODIFIER SNV - - - - - 208 m.275G>A 275 G A 6 0.000825764 0 0.000000000 7266 0.000825764 MT_275_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 209 m.277C>T 277 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_277_C/T heter - intergenic_variant - - MODIFIER SNV - - - - - 210 m.279T>C 279 T C 31 0.004266446 5 0.000688137 7266 0.004954583 MT_279_T/C homo&heter - intergenic_variant - rs879199276 MODIFIER SNV - - - - - 211 m.280C>T 280 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_280_C/T homo - intergenic_variant - rs1556422412 MODIFIER SNV - - - - - 212 m.281A>C 281 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_281_A/C homo - intergenic_variant - - MODIFIER SNV - - - - - 213 m.281A>G 281 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_281_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 214 m.282T>C 282 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_282_T/C homo - intergenic_variant - rs879008746 MODIFIER SNV - - - - - 215 m.284A>G 284 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_284_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 216 m.285C>CA 285 C CA 8 0.001101018 0 0.000000000 7266 0.001101018 MT_286_-/A homo - intergenic_variant - - MODIFIER insertion - - - - - 217 m.285C>CAA 285 C CAA 0 0.000000000 1 0.000137627 7266 0.000137627 MT_286_-/AA heter - intergenic_variant - - MODIFIER insertion - - - - - 218 m.285C>T 285 C T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_285_C/T homo - intergenic_variant - rs201801609 MODIFIER SNV - - - - - 219 m.285CA>C 285 CA C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_286_A/- homo - intergenic_variant - - MODIFIER deletion - - - - - 220 m.285CAA>C 285 CAA C 75 0.010322048 0 0.000000000 7266 0.010322048 MT_286_AA/- homo - intergenic_variant - rs1556422415 MODIFIER deletion - - - - - 221 m.290A>AAT 290 A AAT 2 0.000275255 0 0.000000000 7266 0.000275255 MT_291_-/AT homo - intergenic_variant - - MODIFIER insertion - - - - - 222 m.290A>G 290 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_290_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 223 m.292T>A 292 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_292_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 224 m.292T>C 292 T C 4 0.000550509 2 0.000275255 7266 0.000825764 MT_292_T/C homo&heter - intergenic_variant - rs1556422417 MODIFIER SNV - - - - - 225 m.293T>C 293 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_293_T/C homo&heter - intergenic_variant - rs1556422418 MODIFIER SNV - - - - - 226 m.294T>C 294 T C 14 0.001926782 0 0.000000000 7266 0.001926782 MT_294_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 227 m.295C>T 295 C T 69 0.009496284 0 0.000000000 7266 0.009496284 MT_295_C/T homo - intergenic_variant - rs41528348 MODIFIER SNV - - - - - 228 m.296C>T 296 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_296_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 229 m.297A>G 297 A G 44 0.006055601 1 0.000137627 7266 0.006193229 MT_297_A/G homo&heter - intergenic_variant - rs3927813 MODIFIER SNV - - - - - 230 m.297AC>A 297 AC A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_298_C/- heter - intergenic_variant - - MODIFIER deletion - - - - - 231 m.298C>A 298 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_298_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 232 m.298C>T 298 C T 62 0.008532893 0 0.000000000 7266 0.008532893 MT_298_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 233 m.299C>A 299 C A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_299_C/A heter - intergenic_variant - - MODIFIER SNV - - - - - 234 m.307C>CCT 307 C CCT 1 0.000137627 1 0.000137627 7266 0.000275255 MT_308_-/CT homo&heter - intergenic_variant - - MODIFIER insertion - - - - - 235 m.307C>T 307 C T 2 0.000275255 2 0.000275255 7266 0.000550509 MT_307_C/T homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 236 m.308C>CT 308 C CT 1 0.000137627 1 0.000137627 7266 0.000275255 MT_309_-/T homo&heter - intergenic_variant - - MODIFIER insertion - - - - - 237 m.308C>T 308 C T 4 0.000550509 2 0.000275255 7266 0.000825764 MT_308_C/T homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 238 m.309C>T 309 C T 21 0.002890173 9 0.001238646 7266 0.004128819 MT_309_C/T homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 240 m.317C>A 317 C A 3 0.000412882 2 0.000275255 7266 0.000688137 MT_317_C/A homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 241 m.317CTTCTGG>C 317 CTTCTGG C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_318_TTCTGG/- heter - intergenic_variant - - MODIFIER deletion - - - - - 242 m.318T>C 318 T C 75 0.010322048 2 0.000275255 7266 0.010597303 MT_318_T/C homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 243 m.319T>C 319 T C 12 0.001651528 1 0.000137627 7266 0.001789155 MT_319_T/C homo&heter - intergenic_variant - rs879055956 MODIFIER SNV - - - - - 244 m.319T>TA 319 T TA 1 0.000137627 0 0.000000000 7266 0.000137627 MT_320_-/A homo - intergenic_variant - - MODIFIER insertion - - - - - 245 m.321T>C 321 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_321_T/C heter - intergenic_variant - rs1556422429 MODIFIER SNV - - - - - 246 m.324C>T 324 C T 5 0.000688137 1 0.000137627 7266 0.000825764 MT_324_C/T homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 247 m.325C>T 325 C T 71 0.009771539 1 0.000137627 7266 0.009909166 MT_325_C/T homo&heter - intergenic_variant - rs1569483776 MODIFIER SNV - - - - - 248 m.326A>G 326 A G 35 0.004816956 1 0.000137627 7266 0.004954583 MT_326_A/G homo&heter - intergenic_variant - rs878920015 MODIFIER SNV - - - - - 249 m.327C>T 327 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_327_C/T homo - intergenic_variant - rs1556422433 MODIFIER SNV - - - - - 250 m.328A>G 328 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_328_A/G homo - intergenic_variant - rs1556422434 MODIFIER SNV - - - - - 251 m.329G>A 329 G A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_329_G/A homo - intergenic_variant - rs1569483777 MODIFIER SNV - - - - - 252 m.332C>T 332 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_332_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 253 m.333T>C 333 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_333_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 254 m.334T>C 334 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_334_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 255 m.334TA>T 334 TA T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_335_A/- homo - intergenic_variant - rs879138590 MODIFIER deletion - - - - - 256 m.335A>G 335 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_335_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 257 m.337A>G 337 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_337_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 258 m.338C>T 338 C T 6 0.000825764 1 0.000137627 7266 0.000963391 MT_338_C/T homo&heter - intergenic_variant - rs1556422436 MODIFIER SNV - - - - - 259 m.340C>T 340 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_340_C/T homo - intergenic_variant - rs117394573 MODIFIER SNV - - - - - 260 m.341A>G 341 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_341_A/G heter - intergenic_variant - - MODIFIER SNV - - - - - 261 m.345C>T 345 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_345_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 262 m.352A>AC 352 A AC 6 0.000825764 0 0.000000000 7266 0.000825764 MT_353_-/C homo - intergenic_variant - - MODIFIER insertion - - - - - 263 m.356C>CA 356 C CA 3 0.000412882 0 0.000000000 7266 0.000412882 MT_357_-/A homo - intergenic_variant - - MODIFIER insertion - - - - - 264 m.357A>G 357 A G 118 0.016240022 0 0.000000000 7266 0.016240022 MT_357_A/G homo - intergenic_variant - rs28678375 MODIFIER SNV - - - - - 265 m.361A>G 361 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_361_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 266 m.368A>G 368 A G 11 0.001513900 2 0.000275255 7266 0.001789155 MT_368_A/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 267 m.370C>A 370 C A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_370_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 268 m.371C>A 371 C A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_371_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 269 m.371C>T 371 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_371_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 270 m.372T>C 372 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_372_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 271 m.373A>G 373 A G 23 0.003165428 1 0.000137627 7266 0.003303055 MT_373_A/G homo&heter - intergenic_variant - rs1556422437 MODIFIER SNV - - - - - 272 m.374A>G 374 A G 19 0.002614919 3 0.000412882 7266 0.003027801 MT_374_A/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 273 m.374A>T 374 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_374_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 274 m.375C>A 375 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_375_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 275 m.375C>T 375 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_375_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 276 m.377C>T 377 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_377_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 277 m.378C>T 378 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_378_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 278 m.382C>CT 382 C CT 1 0.000137627 0 0.000000000 7266 0.000137627 MT_383_-/T homo - intergenic_variant - - MODIFIER insertion - - - - - 279 m.383T>C 383 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_383_T/C heter - intergenic_variant - - MODIFIER SNV - - - - - 280 m.384A>G 384 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_384_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 281 m.385A>G 385 A G 22 0.003027801 3 0.000412882 7266 0.003440683 MT_385_A/G homo&heter - intergenic_variant - rs1556422439 MODIFIER SNV - - - - - 282 m.389G>A 389 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_389_G/A heter - intergenic_variant - - MODIFIER SNV - - - - - 283 m.390A>G 390 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_390_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 284 m.390A>T 390 A T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_390_A/T homo - intergenic_variant - rs879110730 MODIFIER SNV - - - - - 285 m.391T>C 391 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_391_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 286 m.392T>C 392 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_392_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 287 m.393T>C 393 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_393_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 288 m.396A>G 396 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_396_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 289 m.397AT>A 397 AT A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_398_T/- homo - intergenic_variant - - MODIFIER deletion - - - - - 290 m.398T>C 398 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_398_T/C homo - intergenic_variant - rs878930477 MODIFIER SNV - - - - - 291 m.408T>A 408 T A 18 0.002477291 0 0.000000000 7266 0.002477291 MT_408_T/A homo - intergenic_variant - rs28412942 MODIFIER SNV - - - - - 292 m.414T>G 414 T G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_414_T/G heter - intergenic_variant - - MODIFIER SNV - - - - - 293 m.416T>A 416 T A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_416_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 294 m.417G>A 417 G A 6 0.000825764 0 0.000000000 7266 0.000825764 MT_417_G/A homo - intergenic_variant - rs28607510 MODIFIER SNV - - - - - 295 m.418C>T 418 C T 22 0.003027801 0 0.000000000 7266 0.003027801 MT_418_C/T homo - intergenic_variant - rs201236789 MODIFIER SNV - - - - - 296 m.424T>C 424 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_424_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 297 m.431C>T 431 C T 19 0.002614919 0 0.000000000 7266 0.002614919 MT_431_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 298 m.438C>T 438 C T 1 0.000137627 2 0.000275255 7266 0.000412882 MT_438_C/T homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 299 m.444A>G 444 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_444_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 300 m.447C>G 447 C G 27 0.003715937 0 0.000000000 7266 0.003715937 MT_447_C/G homo - intergenic_variant - - MODIFIER SNV - - - - - 301 m.449T>C 449 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_449_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 302 m.450T>C 450 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_450_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 303 m.451A>AT 451 A AT 19 0.002614919 1 0.000137627 7266 0.002752546 MT_452_-/T homo&heter - intergenic_variant - - MODIFIER insertion - - - - - 304 m.451A>ATT 451 A ATT 2 0.000275255 0 0.000000000 7266 0.000275255 MT_452_-/TT homo - intergenic_variant - - MODIFIER insertion - - - - - 305 m.451A>G 451 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_451_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 306 m.451AT>A 451 AT A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_452_T/- heter - intergenic_variant - - MODIFIER deletion - - - - - 307 m.451ATT>A 451 ATT A 3 0.000412882 4 0.000550509 7266 0.000963391 MT_452_TT/- homo&heter - intergenic_variant - - MODIFIER deletion - - - - - 308 m.453T>A 453 T A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_453_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 309 m.453T>C 453 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_453_T/C homo - intergenic_variant - rs1556422444 MODIFIER SNV - - - - - 310 m.454T>C 454 T C 0 0.000000000 3 0.000412882 7266 0.000412882 MT_454_T/C heter - intergenic_variant - - MODIFIER SNV - - - - - 311 m.455T>C 455 T C 0 0.000000000 4 0.000550509 7266 0.000550509 MT_455_T/C heter - intergenic_variant - - MODIFIER SNV - - - - - 312 m.455T>TC 455 T TC 6 0.000825764 6 0.000825764 7266 0.001651528 MT_456_-/C homo&heter - intergenic_variant - - MODIFIER insertion - - - - - 313 m.455T>TCCC 455 T TCCC 0 0.000000000 4 0.000550509 7266 0.000550509 MT_456_-/CCC heter - intergenic_variant - - MODIFIER insertion - - - - - 314 m.455T>TTC 455 T TTC 1 0.000137627 0 0.000000000 7266 0.000137627 MT_456_-/TC homo - intergenic_variant - - MODIFIER insertion - - - - - 315 m.455T>TTTC 455 T TTTC 3 0.000412882 0 0.000000000 7266 0.000412882 MT_456_-/TTC homo - intergenic_variant - - MODIFIER insertion - - - - - 316 m.455TC>T 455 TC T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_456_C/- homo - intergenic_variant - rs1556422445 MODIFIER deletion - - - - - 317 m.456C>T 456 C T 164 0.022570878 2 0.000275255 7266 0.022846133 MT_456_C/T homo&heter - intergenic_variant - rs41356551 MODIFIER SNV - - - - - 318 m.458C>T 458 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_458_C/T homo - intergenic_variant - rs879168367 MODIFIER SNV - - - - - 319 m.459C>A 459 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_459_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 320 m.459C>T 459 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_459_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 321 m.460T>A 460 T A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_460_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 322 m.460T>C 460 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_460_T/C homo - intergenic_variant - rs1556422446 MODIFIER SNV - - - - - 323 m.461C>T 461 C T 24 0.003303055 0 0.000000000 7266 0.003303055 MT_461_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 324 m.462C>T 462 C T 62 0.008532893 0 0.000000000 7266 0.008532893 MT_462_C/T homo - intergenic_variant - rs41402146 MODIFIER SNV - - - - - 325 m.463C>T 463 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_463_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 326 m.466T>C 466 T C 13 0.001789155 1 0.000137627 7266 0.001926782 MT_466_T/C homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 327 m.466T>G 466 T G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_466_T/G homo - intergenic_variant - - MODIFIER SNV - - - - - 328 m.469C>T 469 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_469_C/T homo - intergenic_variant - rs1556422448 MODIFIER SNV - - - - - 329 m.470A>G 470 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_470_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 330 m.471T>C 471 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_471_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 331 m.474T>G 474 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_474_T/G homo - intergenic_variant - - MODIFIER SNV - - - - - 332 m.475A>G 475 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_475_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 333 m.477T>C 477 T C 19 0.002614919 0 0.000000000 7266 0.002614919 MT_477_T/C homo - intergenic_variant - rs41442247 MODIFIER SNV - - - - - 334 m.478A>G 478 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_478_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 335 m.479A>G 479 A G 23 0.003165428 0 0.000000000 7266 0.003165428 MT_479_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 336 m.480T>C 480 T C 19 0.002614919 1 0.000137627 7266 0.002752546 MT_480_T/C homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 337 m.481C>A 481 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_481_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 338 m.481C>T 481 C T 13 0.001789155 1 0.000137627 7266 0.001926782 MT_481_C/T homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 339 m.482T>C 482 T C 71 0.009771539 0 0.000000000 7266 0.009771539 MT_482_T/C homo - intergenic_variant - rs386419941 MODIFIER SNV - - - - - 340 m.483C>T 483 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_483_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 341 m.485T>C 485 T C 20 0.002752546 0 0.000000000 7266 0.002752546 MT_485_T/C homo - intergenic_variant - rs386828873 MODIFIER SNV - - - - - 342 m.487A>G 487 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_487_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 343 m.489T>C 489 T C 2917 0.401458849 0 0.000000000 7266 0.401458849 MT_489_T/C homo - intergenic_variant - rs28625645 MODIFIER SNV - - - - - 344 m.491C>T 491 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_491_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 345 m.492A>AG 492 A AG 2 0.000275255 0 0.000000000 7266 0.000275255 MT_493_-/G homo - intergenic_variant - - MODIFIER insertion - - - - - 346 m.493A>C 493 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_493_A/C homo - intergenic_variant - - MODIFIER SNV - - - - - 347 m.493A>G 493 A G 59 0.008120011 0 0.000000000 7266 0.008120011 MT_493_A/G homo - intergenic_variant - rs1556422454 MODIFIER SNV - - - - - 348 m.493AC>A 493 AC A 50 0.006881365 0 0.000000000 7266 0.006881365 MT_494_C/- homo - intergenic_variant - rs377569791 MODIFIER deletion - - - - - 349 m.494C>G 494 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_494_C/G homo - intergenic_variant - - MODIFIER SNV - - - - - 350 m.494C>T 494 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_494_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 351 m.495C>T 495 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_495_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 352 m.497C>T 497 C T 27 0.003715937 0 0.000000000 7266 0.003715937 MT_497_C/T homo - intergenic_variant - rs28660704 MODIFIER SNV - - - - - 353 m.498C>T 498 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_498_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 354 m.499G>A 499 G A 302 0.041563446 0 0.000000000 7266 0.041563446 MT_499_G/A homo - intergenic_variant - rs3901846 MODIFIER SNV - - - - - 355 m.501C>T 501 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_501_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 356 m.502C>A 502 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_502_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 357 m.503A>AT 503 A AT 1 0.000137627 0 0.000000000 7266 0.000137627 MT_504_-/T homo - intergenic_variant - - MODIFIER insertion - - - - - 358 m.503A>C 503 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_503_A/C homo - intergenic_variant - - MODIFIER SNV - - - - - 359 m.503A>G 503 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_503_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 360 m.504T>C 504 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_504_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 361 m.505C>T 505 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_505_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 362 m.506C>T 506 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_506_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 363 m.507T>C 507 T C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_507_T/C homo - intergenic_variant - rs1556422457 MODIFIER SNV - - - - - 364 m.508A>C 508 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_508_A/C homo - intergenic_variant - - MODIFIER SNV - - - - - 365 m.508A>G 508 A G 19 0.002614919 0 0.000000000 7266 0.002614919 MT_508_A/G homo - intergenic_variant - rs113683159 MODIFIER SNV - - - - - 366 m.508AC>A 508 AC A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_509_C/- homo - intergenic_variant - - MODIFIER deletion - - - - - 367 m.509C>T 509 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_509_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 368 m.510C>T 510 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_510_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 369 m.511C>T 511 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_511_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 370 m.512A>ATC 512 A ATC 1 0.000137627 0 0.000000000 7266 0.000137627 MT_513_-/TC homo - intergenic_variant - - MODIFIER insertion - - - - - 371 m.512AG>A 512 AG A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_513_G/- homo - intergenic_variant - - MODIFIER deletion - - - - - 372 m.512AGC>A 512 AGC A 47 0.006468483 2 0.000275255 7266 0.006743738 MT_513_GC/- homo&heter - intergenic_variant - - MODIFIER deletion - - - - - 373 m.512AGCAC>A 512 AGCAC A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_513_GCAC/- homo - intergenic_variant - - MODIFIER deletion - - - - - 374 m.513G>A 513 G A 46 0.006330856 2 0.000275255 7266 0.006606111 MT_513_G/A homo&heter - intergenic_variant - rs879162984 MODIFIER SNV - - - - - 375 m.513G>GCA 513 G GCA 113 0.015551885 26 0.003578310 7266 0.019130195 MT_514_-/CA homo&heter - intergenic_variant - - MODIFIER insertion - - - - - 376 m.513G>GCACA 513 G GCACA 46 0.006330856 14 0.001926782 7266 0.008257638 MT_514_-/CACA homo&heter - intergenic_variant - - MODIFIER insertion - - - - - 377 m.513G>GCACACA 513 G GCACACA 3 0.000412882 4 0.000550509 7266 0.000963391 MT_514_-/CACACA homo&heter - intergenic_variant - - MODIFIER insertion - - - - - 378 m.513GCA>G 513 GCA G 2836 0.390311038 32 0.004404074 7266 0.394715111 MT_514_CA/- homo&heter - intergenic_variant - rs78907894 MODIFIER deletion - - - - - 379 m.513GCACA>G 513 GCACA G 25 0.003440683 0 0.000000000 7266 0.003440683 MT_514_CACA/- homo - intergenic_variant - - MODIFIER deletion - - - - - 380 m.514CA>C 514 CA C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_515_A/- homo - intergenic_variant - - MODIFIER deletion - - - - - 381 m.516C>T 516 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_516_C/T homo - intergenic_variant - rs879017117 MODIFIER SNV - - - - - 382 m.516CA>C 516 CA C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_517_A/- homo - intergenic_variant - - MODIFIER deletion - - - - - 383 m.517A>ACG 517 A ACG 1 0.000137627 0 0.000000000 7266 0.000137627 MT_518_-/CG homo - intergenic_variant - - MODIFIER insertion - - - - - 384 m.517A>G 517 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_517_A/G homo - intergenic_variant - rs1569483784 MODIFIER SNV - - - - - 385 m.517A>T 517 A T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_517_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 386 m.518C>T 518 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_518_C/T homo - intergenic_variant - rs375928370 MODIFIER SNV - - - - - 387 m.518CA>C 518 CA C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_519_A/- homo - intergenic_variant - - MODIFIER deletion - - - - - 388 m.519A>G 519 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_519_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 389 m.520C>G 520 C G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_520_C/G heter - intergenic_variant - - MODIFIER SNV - - - - - 390 m.520C>T 520 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_520_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 391 m.521A>T 521 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_521_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 392 m.523A>G 523 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_523_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 393 m.524C>T 524 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_524_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 394 m.527C>T 527 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_527_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 395 m.533A>G 533 A G 11 0.001513900 0 0.000000000 7266 0.001513900 MT_533_A/G homo - intergenic_variant - rs879080661 MODIFIER SNV - - - - - 396 m.534C>T 534 C T 25 0.003440683 0 0.000000000 7266 0.003440683 MT_534_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 397 m.535C>A 535 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_535_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 398 m.535C>T 535 C T 4 0.000550509 1 0.000137627 7266 0.000688137 MT_535_C/T homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 399 m.537C>T 537 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_537_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 400 m.542C>T 542 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_542_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 401 m.545G>A 545 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_545_G/A homo - intergenic_variant - rs1556422465 MODIFIER SNV - - - - - 402 m.546A>G 546 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_546_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 403 m.546A>T 546 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_546_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 404 m.547A>G 547 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_547_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 405 m.548C>T 548 C T 34 0.004679328 0 0.000000000 7266 0.004679328 MT_548_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 406 m.549C>T 549 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_549_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 407 m.551A>G 551 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_551_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 408 m.553C>T 553 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_553_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 409 m.556A>C 556 A C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_556_A/C homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 410 m.556A>G 556 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_556_A/G heter - intergenic_variant - - MODIFIER SNV - - - - - 411 m.556A>T 556 A T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_556_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 412 m.560C>T 560 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_560_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 413 m.567A>AC 567 A AC 24 0.003303055 36 0.004954583 7266 0.008257638 MT_568_-/C homo&heter - intergenic_variant - - MODIFIER insertion - - - - - 414 m.567A>ACC 567 A ACC 8 0.001101018 32 0.004404074 7266 0.005505092 MT_568_-/CC homo&heter - intergenic_variant - - MODIFIER insertion - - - - - 415 m.567A>ACCC 567 A ACCC 0 0.000000000 93 0.012799339 7266 0.012799339 MT_568_-/CCC heter - intergenic_variant - - MODIFIER insertion - - - - - 416 m.567A>ACCCC 567 A ACCCC 0 0.000000000 166 0.022846133 7266 0.022846133 MT_568_-/CCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 417 m.567A>ACCCCC 567 A ACCCCC 0 0.000000000 155 0.021332232 7266 0.021332232 MT_568_-/CCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 418 m.567A>ACCCCCC 567 A ACCCCCC 0 0.000000000 116 0.015964767 7266 0.015964767 MT_568_-/CCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 419 m.567A>ACCCCCCC 567 A ACCCCCCC 0 0.000000000 41 0.005642720 7266 0.005642720 MT_568_-/CCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 420 m.567A>ACCCCCCCC 567 A ACCCCCCCC 0 0.000000000 3 0.000412882 7266 0.000412882 MT_568_-/CCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 421 m.567A>ACCCCCCCCC 567 A ACCCCCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_568_-/CCCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 422 m.567A>C 567 A C 0 0.000000000 62 0.008532893 7266 0.008532893 MT_567_A/C heter - intergenic_variant - rs1556422468 MODIFIER SNV - - - - - 423 m.567AC>A 567 AC A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_568_C/- homo - intergenic_variant - - MODIFIER deletion - - - - - 424 m.568C>T 568 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_568_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 425 m.569C>A 569 C A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_569_C/A heter - intergenic_variant - - MODIFIER SNV - - - - - 426 m.569C>T 569 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_569_C/T homo - intergenic_variant - rs1556422471 MODIFIER SNV - - - - - 427 m.571C>T 571 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_571_C/T homo - intergenic_variant - rs1556422472 MODIFIER SNV - - - - - 428 m.572C>T 572 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_572_C/T homo - intergenic_variant - rs879190935 MODIFIER SNV - - - - - 429 m.573C>T 573 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_573_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 430 m.574A>G 574 A G 13 0.001789155 1 0.000137627 7266 0.001926782 MT_574_A/G homo&heter - intergenic_variant - rs1556422473 MODIFIER SNV - - - - - 431 m.575C>T 575 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_575_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 432 m.576A>G 576 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_576_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 433 m.576A>T 576 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_576_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 434 m.579T>C 579 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_579_T/C heter ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TF Mt_tRNA - - - 435 m.586G>A 586 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_586_G/A heter ENSG00000210049 non_coding_transcript_exon_variant - rs387906734 MODIFIER SNV MT-TF Mt_tRNA - - pathogenic 436 m.592C>T 592 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_592_C/T homo ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TF Mt_tRNA - - - 437 m.593T>A 593 T A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_593_T/A homo ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TF Mt_tRNA - - - 438 m.593T>C 593 T C 49 0.006743738 2 0.000275255 7266 0.007018993 MT_593_T/C homo&heter ENSG00000210049 non_coding_transcript_exon_variant - rs879123694 MODIFIER SNV MT-TF Mt_tRNA - - - 439 m.593T>TC 593 T TC 12 0.001651528 0 0.000000000 7266 0.001651528 MT_594_-/C homo ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER insertion MT-TF Mt_tRNA - - - 440 m.595C>T 595 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_595_C/T homo ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TF Mt_tRNA - - - 441 m.596T>C 596 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_596_T/C homo ENSG00000210049 non_coding_transcript_exon_variant - rs1556422474 MODIFIER SNV MT-TF Mt_tRNA - - - 442 m.597C>CT 597 C CT 5 0.000688137 0 0.000000000 7266 0.000688137 MT_598_-/T homo ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER insertion MT-TF Mt_tRNA - - - 443 m.597C>T 597 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_597_C/T homo ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TF Mt_tRNA - - - 444 m.603A>G 603 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_603_A/G homo ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TF Mt_tRNA - - - 445 m.606A>G 606 A G 15 0.002064410 0 0.000000000 7266 0.002064410 MT_606_A/G homo ENSG00000210049 non_coding_transcript_exon_variant - rs200056066 MODIFIER SNV MT-TF Mt_tRNA - - - 446 m.617G>A 617 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_617_G/A heter ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TF Mt_tRNA - - - 447 m.619T>C 619 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_619_T/C homo ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TF Mt_tRNA - - - 448 m.627G>A 627 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_627_G/A heter ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TF Mt_tRNA - - - 449 m.628C>T 628 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_628_C/T homo ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TF Mt_tRNA - - - 450 m.629T>C 629 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_629_T/C homo ENSG00000210049 non_coding_transcript_exon_variant - rs201031012 MODIFIER SNV MT-TF Mt_tRNA - - - 451 m.631A>G 631 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_631_A/G homo ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TF Mt_tRNA - - - 452 m.633A>G 633 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_633_A/G homo ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TF Mt_tRNA - - - 453 m.634T>C 634 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_634_T/C homo ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TF Mt_tRNA - - - 454 m.636A>C 636 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_636_A/C homo ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TF Mt_tRNA - - - 455 m.636A>G 636 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_636_A/G homo ENSG00000210049 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TF Mt_tRNA - - - 456 m.644A>G 644 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_644_A/G homo ENSG00000210049 non_coding_transcript_exon_variant - rs1556422475 MODIFIER SNV MT-TF Mt_tRNA - - - 457 m.647A>G 647 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_647_A/G homo ENSG00000210049 non_coding_transcript_exon_variant - rs1569483788 MODIFIER SNV MT-TF Mt_tRNA - - - 458 m.648A>G 648 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_648_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 459 m.650T>C 650 T C 4 0.000550509 2 0.000275255 7266 0.000825764 MT_650_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs386828875 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 460 m.654T>C 654 T C 11 0.001513900 1 0.000137627 7266 0.001651528 MT_654_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 461 m.657G>A 657 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_657_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 462 m.659T>C 659 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_659_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 463 m.663A>G 663 A G 485 0.066749243 0 0.000000000 7266 0.066749243 MT_663_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs56489998 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 464 m.671T>C 671 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_671_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 465 m.673T>C 673 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_673_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 466 m.675A>G 675 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_675_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 467 m.676G>A 676 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_676_G/A homo&heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 468 m.678T>C 678 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_678_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - rs1556422476 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 469 m.679C>A 679 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_679_C/A homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 470 m.680T>C 680 T C 68 0.009358657 0 0.000000000 7266 0.009358657 MT_680_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - rs1569483792 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 471 m.681T>C 681 T C 98 0.013487476 0 0.000000000 7266 0.013487476 MT_681_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 472 m.687G>A 687 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_687_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 473 m.690T>C 690 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_690_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 474 m.704T>C 704 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_704_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 475 m.709G>A 709 G A 1284 0.176713460 12 0.001651528 7266 0.178364988 MT_709_G/A homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs2853517 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 476 m.710T>C 710 T C 119 0.016377649 0 0.000000000 7266 0.016377649 MT_710_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - rs28358568 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 477 m.711T>C 711 T C 23 0.003165428 1 0.000137627 7266 0.003303055 MT_711_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs878890102 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 478 m.714A>G 714 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_714_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs1556422478 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 479 m.714A>T 714 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_714_A/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 480 m.715G>A 715 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_715_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 481 m.717G>A 717 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_717_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 482 m.719G>A 719 G A 10 0.001376273 0 0.000000000 7266 0.001376273 MT_719_G/A homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 483 m.720T>C 720 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_720_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 484 m.721T>A 721 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_721_T/A homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 485 m.721T>C 721 T C 7 0.000963391 2 0.000275255 7266 0.001238646 MT_721_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs1556422479 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 486 m.722C>T 722 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_722_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - rs879214991 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 487 m.723A>C 723 A C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_723_A/C homo ENSG00000211459 non_coding_transcript_exon_variant - rs386828878 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 488 m.723A>G 723 A G 33 0.004541701 1 0.000137627 7266 0.004679328 MT_723_A/G homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs386828878 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 489 m.729TA>T 729 TA T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_730_A/- homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER deletion MT-RNR1 Mt_rRNA - - - 490 m.730A>G 730 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_730_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 491 m.731A>G 731 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_731_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs1569483794 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 492 m.735A>G 735 A G 21 0.002890173 0 0.000000000 7266 0.002890173 MT_735_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 493 m.738A>G 738 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_738_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 494 m.739C>T 739 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_739_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - rs879071964 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 495 m.741A>G 741 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_741_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 496 m.742T>C 742 T C 2 0.000275255 2 0.000275255 7266 0.000550509 MT_742_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs368221863 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 497 m.745A>AC 745 A AC 1 0.000137627 0 0.000000000 7266 0.000137627 MT_746_-/C homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR1 Mt_rRNA - - - 498 m.745A>AT 745 A AT 1 0.000137627 0 0.000000000 7266 0.000137627 MT_746_-/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR1 Mt_rRNA - - - 499 m.745A>G 745 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_745_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs1556422481 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 500 m.747A>G 747 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_747_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs1556422483 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 501 m.748G>A 748 G A 5 0.000688137 1 0.000137627 7266 0.000825764 MT_748_G/A homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs878857824 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 502 m.749G>A 749 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_749_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 503 m.749GA>G 749 GA G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_750_A/- homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER deletion MT-RNR1 Mt_rRNA - - - 504 m.750A>G 750 A G 7213 0.992705753 1 0.000137627 7266 0.992843380 MT_750_A/G homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs2853518 MODIFIER SNV MT-RNR1 Mt_rRNA - - not_provided 505 m.751A>G 751 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_751_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 506 m.752C>A 752 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_752_C/A homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 507 m.752C>T 752 C T 176 0.024222406 0 0.000000000 7266 0.024222406 MT_752_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - rs201831870 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 508 m.753A>T 753 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_753_A/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 509 m.758T>C 758 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_758_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 510 m.761A>G 761 A G 12 0.001651528 0 0.000000000 7266 0.001651528 MT_761_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 511 m.769G>A 769 G A 573 0.078860446 0 0.000000000 7266 0.078860446 MT_769_G/A homo ENSG00000211459 non_coding_transcript_exon_variant - rs2853519 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 512 m.770C>T 770 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_770_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 513 m.774G>C 774 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_774_G/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 514 m.777G>A 777 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_777_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 515 m.779T>C 779 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_779_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 516 m.782A>G 782 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_782_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 517 m.783A>G 783 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_783_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 518 m.789T>A 789 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_789_T/A homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 519 m.789T>C 789 T C 8 0.001101018 1 0.000137627 7266 0.001238646 MT_789_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs879211540 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 520 m.791G>A 791 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_791_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 521 m.794T>C 794 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_794_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - rs1569483796 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 522 m.795A>G 795 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_795_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 523 m.796G>T 796 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_796_G/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 524 m.799A>G 799 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_799_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 525 m.801A>G 801 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_801_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 526 m.803C>T 803 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_803_C/T heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 527 m.811G>A 811 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_811_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 528 m.813A>G 813 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_813_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs878985110 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 529 m.814A>G 814 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_814_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 530 m.823A>G 823 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_823_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 531 m.824T>C 824 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_824_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 532 m.825T>A 825 T A 231 0.031791908 0 0.000000000 7266 0.031791908 MT_825_T/A homo ENSG00000211459 non_coding_transcript_exon_variant - rs2853520 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 533 m.826A>G 826 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_826_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 534 m.827A>G 827 A G 300 0.041288192 0 0.000000000 7266 0.041288192 MT_827_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs28358569 MODIFIER SNV MT-RNR1 Mt_rRNA - - pathogenic,drug_response 535 m.830T>C 830 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_830_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 536 m.834G>A 834 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_834_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 537 m.838T>C 838 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_838_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 538 m.841A>G 841 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_841_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 539 m.850T>C 850 T C 7 0.000963391 1 0.000137627 7266 0.001101018 MT_850_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs878918675 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 540 m.851A>G 851 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_851_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs28502491 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 541 m.856A>G 856 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_856_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 542 m.859T>C 859 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_859_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 543 m.861T>C 861 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_861_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 544 m.867C>T 867 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_867_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 545 m.868C>T 868 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_868_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 546 m.869C>T 869 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_869_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - rs386828880 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 547 m.870C>T 870 C T 22 0.003027801 1 0.000137627 7266 0.003165428 MT_870_C/T homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs1556422489 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 548 m.873G>A 873 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_873_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 549 m.879T>C 879 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_879_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 550 m.884T>C 884 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_884_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 551 m.888T>C 888 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_888_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 552 m.895C>T 895 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_895_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 553 m.896A>G 896 A G 6 0.000825764 1 0.000137627 7266 0.000963391 MT_896_A/G homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs1556422491 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 554 m.902G>A 902 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_902_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 555 m.903T>C 903 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_903_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 556 m.911T>C 911 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_911_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 557 m.914A>G 914 A G 0 0.000000000 3 0.000412882 7266 0.000412882 MT_914_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 558 m.921T>C 921 T C 67 0.009221029 1 0.000137627 7266 0.009358657 MT_921_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs28358570 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 559 m.922C>T 922 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_922_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 560 m.929A>G 929 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_929_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 561 m.930G>A 930 G A 61 0.008395266 0 0.000000000 7266 0.008395266 MT_930_G/A homo ENSG00000211459 non_coding_transcript_exon_variant - rs41352944 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 562 m.930G>C 930 G C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_930_G/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 563 m.934G>A 934 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_934_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 564 m.941G>A 941 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_941_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 565 m.942A>G 942 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_942_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs28579222 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 566 m.951G>A 951 G A 22 0.003027801 1 0.000137627 7266 0.003165428 MT_951_G/A homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs200887992 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 567 m.953T>C 953 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_953_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs1556422495 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 568 m.954C>T 954 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_954_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - rs1556422496 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 569 m.955A>AAC 955 A AAC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_956_-/AC heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR1 Mt_rRNA - - - 570 m.955A>AACC 955 A AACC 0 0.000000000 2 0.000275255 7266 0.000275255 MT_956_-/ACC heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR1 Mt_rRNA - - - 571 m.955A>AACCC 955 A AACCC 0 0.000000000 2 0.000275255 7266 0.000275255 MT_956_-/ACCC heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR1 Mt_rRNA - - - 572 m.955A>AACCCC 955 A AACCCC 0 0.000000000 2 0.000275255 7266 0.000275255 MT_956_-/ACCCC heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR1 Mt_rRNA - - - 573 m.955A>AACCCCC 955 A AACCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_956_-/ACCCCC heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR1 Mt_rRNA - - - 574 m.955A>AC 955 A AC 64 0.008808148 67 0.009221029 7266 0.018029177 MT_956_-/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR1 Mt_rRNA - - - 575 m.955A>ACC 955 A ACC 1 0.000137627 78 0.010734930 7266 0.010872557 MT_956_-/CC homo&heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR1 Mt_rRNA - - - 576 m.955A>ACCC 955 A ACCC 0 0.000000000 63 0.008670520 7266 0.008670520 MT_956_-/CCC heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR1 Mt_rRNA - - - 577 m.955A>ACCCC 955 A ACCCC 0 0.000000000 34 0.004679328 7266 0.004679328 MT_956_-/CCCC heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR1 Mt_rRNA - - - 578 m.955A>ACCCCC 955 A ACCCCC 0 0.000000000 9 0.001238646 7266 0.001238646 MT_956_-/CCCCC heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR1 Mt_rRNA - - - 579 m.955A>ACCCCCC 955 A ACCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_956_-/CCCCCC heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR1 Mt_rRNA - - - 580 m.955A>C 955 A C 0 0.000000000 12 0.001651528 7266 0.001651528 MT_955_A/C heter ENSG00000211459 non_coding_transcript_exon_variant - rs1556422497 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 581 m.955A>G 955 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_955_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 582 m.955AC>A 955 AC A 7 0.000963391 0 0.000000000 7266 0.000963391 MT_956_C/- homo ENSG00000211459 non_coding_transcript_exon_variant - rs111033185 MODIFIER deletion MT-RNR1 Mt_rRNA - - - 583 m.958C>T 958 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_958_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 584 m.959C>T 959 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_959_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 585 m.960CT>C 960 CT C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_961_T/- heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER deletion MT-RNR1 Mt_rRNA - - - 586 m.961T>C 961 T C 80 0.011010184 3 0.000412882 7266 0.011423066 MT_961_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs3888511 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 587 m.961T>G 961 T G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_961_T/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs3888511 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign,conflicting_interpretations_of_pathogenicity 588 m.962C>T 962 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_962_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - rs1556422500 MODIFIER SNV MT-RNR1 Mt_rRNA - - uncertain_significance 589 m.963C>T 963 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_963_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 590 m.973C>T 973 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_973_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 591 m.976A>G 976 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_976_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 592 m.979C>T 979 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_979_C/T homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs876657507 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 593 m.980T>C 980 T C 34 0.004679328 1 0.000137627 7266 0.004816956 MT_980_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs397515731 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 594 m.983C>T 983 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_983_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 595 m.986G>A 986 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_986_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 596 m.988G>A 988 G A 4 0.000550509 1 0.000137627 7266 0.000688137 MT_988_G/A homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs879190662 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 597 m.990T>C 990 T C 9 0.001238646 1 0.000137627 7266 0.001376273 MT_990_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs727503165 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 598 m.991G>A 991 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_991_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 599 m.992T>C 992 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_992_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 600 m.992TA>T 992 TA T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_993_A/- heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER deletion MT-RNR1 Mt_rRNA - - - 601 m.994A>G 994 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_994_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 602 m.998A>G 998 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_998_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 603 m.1000T>C 1000 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_1000_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 604 m.1001C>A 1001 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1001_C/A homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 605 m.1005T>C 1005 T C 158 0.021745114 0 0.000000000 7266 0.021745114 MT_1005_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - rs111033179 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 606 m.1005T>G 1005 T G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1005_T/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 607 m.1007G>A 1007 G A 10 0.001376273 0 0.000000000 7266 0.001376273 MT_1007_G/A homo ENSG00000211459 non_coding_transcript_exon_variant - rs111033213 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 608 m.1008A>G 1008 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_1008_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs727504505 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 609 m.1009C>T 1009 C T 19 0.002614919 0 0.000000000 7266 0.002614919 MT_1009_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 610 m.1016T>C 1016 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1016_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 611 m.1018G>A 1018 G A 576 0.079273328 0 0.000000000 7266 0.079273328 MT_1018_G/A homo ENSG00000211459 non_coding_transcript_exon_variant - rs2856982 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 612 m.1019A>G 1019 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1019_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 613 m.1024G>A 1024 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_1024_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 614 m.1027A>G 1027 A G 16 0.002202037 0 0.000000000 7266 0.002202037 MT_1027_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs727504555 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_pathogenic 615 m.1028G>A 1028 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1028_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 616 m.1030G>A 1030 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1030_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 617 m.1031G>A 1031 G A 0 0.000000000 3 0.000412882 7266 0.000412882 MT_1031_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 618 m.1039A>G 1039 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1039_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 619 m.1040T>C 1040 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_1040_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - rs727503163 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 620 m.1041A>G 1041 A G 70 0.009633911 0 0.000000000 7266 0.009633911 MT_1041_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs58327546 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 621 m.1045G>A 1045 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1045_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 622 m.1047A>G 1047 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_1047_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs1556422506 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 623 m.1048C>T 1048 C T 152 0.020919350 0 0.000000000 7266 0.020919350 MT_1048_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - rs2000974 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 624 m.1053A>G 1053 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_1053_A/G homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs1556422507 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 625 m.1053A>T 1053 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1053_A/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 626 m.1055T>C 1055 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1055_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 627 m.1062G>A 1062 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1062_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 628 m.1068A>G 1068 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1068_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 629 m.1079G>A 1079 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1079_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 630 m.1082A>G 1082 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1082_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - rs1556422508 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 631 m.1095T>C 1095 T C 31 0.004266446 0 0.000000000 7266 0.004266446 MT_1095_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - rs267606618 MODIFIER SNV MT-RNR1 Mt_rRNA - - pathogenic,drug_response,uncertain_significance 632 m.1104A>C 1104 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1104_A/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 633 m.1106C>T 1106 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_1106_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 634 m.1107T>C 1107 T C 303 0.041701073 0 0.000000000 7266 0.041701073 MT_1107_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - rs111033323 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 635 m.1117A>G 1117 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_1117_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 636 m.1118A>G 1118 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_1118_A/G homo&heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 637 m.1118A>T 1118 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1118_A/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 638 m.1119T>C 1119 T C 132 0.018166804 1 0.000137627 7266 0.018304432 MT_1119_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs397515724 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 639 m.1120C>T 1120 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1120_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - rs727505171 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 640 m.1132T>C 1132 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1132_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 641 m.1148A>G 1148 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1148_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 642 m.1157T>C 1157 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1157_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 643 m.1169G>A 1169 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1169_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 644 m.1180T>C 1180 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1180_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 645 m.1187T>C 1187 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_1187_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - rs111033320 MODIFIER SNV MT-RNR1 Mt_rRNA - - uncertain_significance 646 m.1189T>C 1189 T C 44 0.006055601 0 0.000000000 7266 0.006055601 MT_1189_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - rs28358571 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 647 m.1192C>A 1192 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1192_C/A homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 648 m.1192C>T 1192 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_1192_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 649 m.1193T>C 1193 T C 11 0.001513900 1 0.000137627 7266 0.001651528 MT_1193_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs111033321 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign,benign 650 m.1199G>A 1199 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1199_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 651 m.1200G>A 1200 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1200_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 652 m.1201A>G 1201 A G 0 0.000000000 5 0.000688137 7266 0.000688137 MT_1201_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 653 m.1210T>C 1210 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1210_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 654 m.1211G>A 1211 G A 16 0.002202037 1 0.000137627 7266 0.002339664 MT_1211_G/A homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs397515725 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 655 m.1215T>C 1215 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1215_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 656 m.1222A>G 1222 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_1222_A/G homo&heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 657 m.1236C>T 1236 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_1236_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 658 m.1240A>G 1240 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1240_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 659 m.1243T>C 1243 T C 40 0.005505092 0 0.000000000 7266 0.005505092 MT_1243_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - rs28358572 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 660 m.1249T>C 1249 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1249_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 661 m.1250C>A 1250 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1250_C/A homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 662 m.1251A>G 1251 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1251_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 663 m.1260A>G 1260 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1260_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 664 m.1270T>C 1270 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1270_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 665 m.1275A>G 1275 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_1275_A/G homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs1556422515 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 666 m.1277A>G 1277 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1277_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 667 m.1281T>C 1281 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1281_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 668 m.1282G>A 1282 G A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_1282_G/A homo ENSG00000211459 non_coding_transcript_exon_variant - rs1569483805 MODIFIER SNV MT-RNR1 Mt_rRNA - - uncertain_significance 669 m.1284T>C 1284 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1284_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - rs1556422516 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 670 m.1285G>T 1285 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1285_G/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 671 m.1289G>A 1289 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1289_G/A homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 672 m.1290C>T 1290 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1290_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - rs1556422517 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 673 m.1291T>C 1291 T C 5 0.000688137 2 0.000275255 7266 0.000963391 MT_1291_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs267606620 MODIFIER SNV MT-RNR1 Mt_rRNA - - pathogenic,likely_benign 674 m.1292A>G 1292 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1292_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 675 m.1298T>C 1298 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1298_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 676 m.1299A>G 1299 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1299_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs1556422518 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 677 m.1301G>C 1301 G C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_1301_G/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 678 m.1303G>A 1303 G A 18 0.002477291 0 0.000000000 7266 0.002477291 MT_1303_G/A homo ENSG00000211459 non_coding_transcript_exon_variant - rs879036775 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 679 m.1307G>A 1307 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1307_G/A homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 680 m.1308T>C 1308 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1308_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 681 m.1309A>G 1309 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_1309_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 682 m.1310C>T 1310 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_1310_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - rs111033354 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 683 m.1313A>G 1313 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_1313_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 684 m.1315G>A 1315 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1315_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - rs386828883 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 685 m.1316T>C 1316 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1316_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 686 m.1323G>A 1323 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1323_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 687 m.1341C>T 1341 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1341_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - rs1556422519 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 688 m.1342C>T 1342 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_1342_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 689 m.1344T>C 1344 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1344_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 690 m.1350G>A 1350 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1350_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 691 m.1352C>T 1352 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1352_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 692 m.1358A>G 1358 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1358_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 693 m.1360G>A 1360 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1360_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 694 m.1377C>A 1377 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1377_C/A homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 695 m.1382A>C 1382 A C 142 0.019543077 0 0.000000000 7266 0.019543077 MT_1382_A/C homo ENSG00000211459 non_coding_transcript_exon_variant - rs111033358 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 696 m.1383A>G 1383 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_1383_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 697 m.1385C>T 1385 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1385_C/T heter ENSG00000211459 non_coding_transcript_exon_variant - rs111033442 MODIFIER SNV MT-RNR1 Mt_rRNA - - uncertain_significance 698 m.1386T>C 1386 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1386_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 699 m.1389G>A 1389 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1389_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 700 m.1391T>C 1391 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_1391_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - rs111033357 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 701 m.1393G>A 1393 G A 13 0.001789155 0 0.000000000 7266 0.001789155 MT_1393_G/A homo ENSG00000211459 non_coding_transcript_exon_variant - rs111033325 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign,benign 702 m.1405C>T 1405 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1405_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 703 m.1406T>C 1406 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_1406_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - rs111033322 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 704 m.1407T>C 1407 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_1407_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 705 m.1407TA>T 1407 TA T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1408_A/- homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER deletion MT-RNR1 Mt_rRNA - - - 706 m.1413T>C 1413 T C 7 0.000963391 1 0.000137627 7266 0.001101018 MT_1413_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs201251530 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 707 m.1415G>A 1415 G A 3 0.000412882 2 0.000275255 7266 0.000688137 MT_1415_G/A homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs876657505 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 708 m.1418G>A 1418 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1418_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - rs28366503 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 709 m.1419G>A 1419 G A 0 0.000000000 3 0.000412882 7266 0.000412882 MT_1419_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 710 m.1420T>C 1420 T C 16 0.002202037 1 0.000137627 7266 0.002339664 MT_1420_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs111033356 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 711 m.1422G>A 1422 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1422_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 712 m.1431G>A 1431 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1431_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 713 m.1435A>G 1435 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_1435_A/G homo&heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 714 m.1436C>A 1436 C A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1436_C/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 715 m.1437T>C 1437 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1437_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 716 m.1438A>G 1438 A G 6965 0.958574181 3 0.000412882 7266 0.958987063 MT_1438_A/G homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs2001030 MODIFIER SNV MT-RNR1 Mt_rRNA - - not_provided,benign 717 m.1440G>A 1440 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1440_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - rs1556422529 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 718 m.1442G>A 1442 G A 122 0.016790531 1 0.000137627 7266 0.016928159 MT_1442_G/A homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs28358573 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign,likely_benign 719 m.1443T>C 1443 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1443_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 720 m.1445G>A 1445 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1445_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 721 m.1447G>C 1447 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1447_G/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 722 m.1452T>C 1452 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_1452_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - rs1556422531 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 723 m.1453A>G 1453 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_1453_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 724 m.1462G>A 1462 G A 20 0.002752546 1 0.000137627 7266 0.002890173 MT_1462_G/A homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs111033326 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 725 m.1462G>T 1462 G T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_1462_G/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 726 m.1473C>T 1473 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1473_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - rs1556422538 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 727 m.1474G>A 1474 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1474_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 728 m.1477T>C 1477 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_1477_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 729 m.1489G>A 1489 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1489_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - rs28653347 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 730 m.1503G>A 1503 G A 13 0.001789155 0 0.000000000 7266 0.001789155 MT_1503_G/A homo ENSG00000211459 non_coding_transcript_exon_variant - rs727503164 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 731 m.1504T>C 1504 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1504_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 732 m.1508C>T 1508 C T 12 0.001651528 0 0.000000000 7266 0.001651528 MT_1508_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - rs386828884 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 733 m.1516G>GAC 1516 G GAC 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1517_-/AC homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR1 Mt_rRNA - - - 734 m.1520T>C 1520 T C 14 0.001926782 0 0.000000000 7266 0.001926782 MT_1520_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 735 m.1521T>C 1521 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1521_T/C homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 736 m.1530A>C 1530 A C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_1530_A/C homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 737 m.1530A>G 1530 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_1530_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs1556422540 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 738 m.1531C>T 1531 C T 14 0.001926782 0 0.000000000 7266 0.001926782 MT_1531_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 739 m.1536A>G 1536 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1536_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - rs876657506 MODIFIER SNV MT-RNR1 Mt_rRNA - - likely_benign 740 m.1541T>C 1541 T C 50 0.006881365 1 0.000137627 7266 0.007018993 MT_1541_T/C homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs372042903 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 741 m.1549G>A 1549 G A 0 0.000000000 3 0.000412882 7266 0.000412882 MT_1549_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - rs28504042 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 742 m.1551G>A 1551 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1551_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 743 m.1552G>A 1552 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_1552_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 744 m.1553A>G 1553 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1553_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - rs879186112 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 745 m.1555A>G 1555 A G 5 0.000688137 1 0.000137627 7266 0.000825764 MT_1555_A/G homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs267606617 MODIFIER SNV MT-RNR1 Mt_rRNA - - pathogenic,pathogenic,_drug_response,drug_response 746 m.1556C>T 1556 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1556_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 747 m.1570G>A 1570 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1570_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 748 m.1571T>C 1571 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1571_T/C heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 749 m.1573A>G 1573 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1573_A/G heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 750 m.1582G>A 1582 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1582_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 751 m.1585A>G 1585 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_1585_A/G homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 752 m.1587T>A 1587 T A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1587_T/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 753 m.1595G>A 1595 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1595_G/A heter ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 754 m.1597C>T 1597 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_1597_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - rs1556422547 MODIFIER SNV MT-RNR1 Mt_rRNA - - - 755 m.1598G>A 1598 G A 145 0.019955959 4 0.000550509 7266 0.020506468 MT_1598_G/A homo&heter ENSG00000211459 non_coding_transcript_exon_variant - rs3135027 MODIFIER SNV MT-RNR1 Mt_rRNA - - benign 756 m.1601C>T 1601 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1601_C/T homo ENSG00000211459 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR1 Mt_rRNA - - - 757 m.1604G>A 1604 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1604_G/A heter ENSG00000210077 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TV Mt_tRNA - - - 758 m.1607T>C 1607 T C 3 0.000412882 3 0.000412882 7266 0.000825764 MT_1607_T/C homo&heter ENSG00000210077 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TV Mt_tRNA - - - 759 m.1611G>A 1611 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1611_G/A heter ENSG00000210077 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TV Mt_tRNA - - - 760 m.1612C>T 1612 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1612_C/T heter ENSG00000210077 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TV Mt_tRNA - - - 761 m.1618A>G 1618 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1618_A/G homo ENSG00000210077 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TV Mt_tRNA - - - 762 m.1619C>T 1619 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1619_C/T homo ENSG00000210077 non_coding_transcript_exon_variant - rs1569483811 MODIFIER SNV MT-TV Mt_tRNA - - likely_benign,uncertain_significance 763 m.1622A>G 1622 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1622_A/G heter ENSG00000210077 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TV Mt_tRNA - - - 764 m.1625A>G 1625 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1625_A/G homo ENSG00000210077 non_coding_transcript_exon_variant - rs28633296 MODIFIER SNV MT-TV Mt_tRNA - - - 765 m.1636A>G 1636 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1636_A/G homo ENSG00000210077 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TV Mt_tRNA - - - 766 m.1640A>G 1640 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1640_A/G homo ENSG00000210077 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TV Mt_tRNA - - - 767 m.1642G>A 1642 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_1642_G/A heter ENSG00000210077 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TV Mt_tRNA - - - 768 m.1642G>C 1642 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1642_G/C heter ENSG00000210077 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TV Mt_tRNA - - - 769 m.1643A>G 1643 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1643_A/G homo ENSG00000210077 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TV Mt_tRNA - - - 770 m.1646T>C 1646 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1646_T/C homo ENSG00000210077 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TV Mt_tRNA - - - 771 m.1647T>C 1647 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_1647_T/C homo&heter ENSG00000210077 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TV Mt_tRNA - - - 772 m.1649CAACTT>C 1649 CAACTT C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1650_AACTT/- homo ENSG00000210077 non_coding_transcript_exon_variant - - MODIFIER deletion MT-TV Mt_tRNA - - - 773 m.1654TA>T 1654 TA T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1655_A/- homo ENSG00000210077 non_coding_transcript_exon_variant - - MODIFIER deletion MT-TV Mt_tRNA - - - 774 m.1661A>G 1661 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1661_A/G heter ENSG00000210077 non_coding_transcript_exon_variant - rs1057516055 MODIFIER SNV MT-TV Mt_tRNA - - uncertain_significance 775 m.1664G>A 1664 G A 37 0.005092210 1 0.000137627 7266 0.005229838 MT_1664_G/A homo&heter ENSG00000210077 non_coding_transcript_exon_variant - rs200807305 MODIFIER SNV MT-TV Mt_tRNA - - - 776 m.1669G>A 1669 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1669_G/A heter ENSG00000210077 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TV Mt_tRNA - - - 777 m.1673T>C 1673 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1673_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 778 m.1676A>G 1676 A G 7 0.000963391 1 0.000137627 7266 0.001101018 MT_1676_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 779 m.1677C>T 1677 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1677_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 780 m.1681G>A 1681 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1681_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - rs28665257 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 781 m.1686A>G 1686 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1686_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs879217074 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 782 m.1692A>G 1692 A G 8 0.001101018 1 0.000137627 7266 0.001238646 MT_1692_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 783 m.1693C>T 1693 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1693_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 784 m.1694T>C 1694 T C 16 0.002202037 1 0.000137627 7266 0.002339664 MT_1694_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs201873294 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 785 m.1700T>C 1700 T C 14 0.001926782 0 0.000000000 7266 0.001926782 MT_1700_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs2854126 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 786 m.1703C>T 1703 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_1703_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs28527344 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 787 m.1706C>T 1706 C T 37 0.005092210 0 0.000000000 7266 0.005092210 MT_1706_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs202116303 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 788 m.1709G>A 1709 G A 52 0.007156620 0 0.000000000 7266 0.007156620 MT_1709_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - rs200251800 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 789 m.1709G>T 1709 G T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_1709_G/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 790 m.1711C>A 1711 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1711_C/A homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 791 m.1711C>T 1711 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_1711_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 792 m.1712A>G 1712 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1712_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 793 m.1713A>G 1713 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_1713_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 794 m.1715C>T 1715 C T 24 0.003303055 0 0.000000000 7266 0.003303055 MT_1715_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs28658366 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 795 m.1716T>C 1716 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_1716_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs1556422559 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 796 m.1717T>C 1717 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_1717_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs879199899 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 797 m.1718A>AG 1718 A AG 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1719_-/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR2 Mt_rRNA - - - 798 m.1718A>G 1718 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1718_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 799 m.1719G>A 1719 G A 198 0.027250206 0 0.000000000 7266 0.027250206 MT_1719_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - rs3928305 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 800 m.1721C>T 1721 C T 20 0.002752546 0 0.000000000 7266 0.002752546 MT_1721_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs200626438 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 801 m.1734C>T 1734 C T 31 0.004266446 0 0.000000000 7266 0.004266446 MT_1734_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs879705291 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 802 m.1735A>G 1735 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_1735_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 803 m.1736A>G 1736 A G 473 0.065097715 1 0.000137627 7266 0.065235343 MT_1736_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs193303006 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 804 m.1737A>G 1737 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_1737_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 805 m.1738T>C 1738 T C 115 0.015827140 0 0.000000000 7266 0.015827140 MT_1738_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs28358574 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 806 m.1743T>C 1743 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1743_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 807 m.1746A>G 1746 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1746_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 808 m.1760G>A 1760 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1760_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 809 m.1762A>G 1762 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_1762_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422567 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 810 m.1763A>G 1763 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1763_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 811 m.1766T>C 1766 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1766_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422568 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 812 m.1772A>G 1772 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1772_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 813 m.1776G>A 1776 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1776_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 814 m.1780T>C 1780 T C 30 0.004128819 0 0.000000000 7266 0.004128819 MT_1780_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs2854127 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 815 m.1782G>A 1782 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1782_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 816 m.1787G>A 1787 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_1787_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 817 m.1788C>T 1788 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1788_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 818 m.1792G>A 1792 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1792_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 819 m.1793G>A 1793 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1793_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 820 m.1799T>C 1799 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_1799_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 821 m.1804A>G 1804 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_1804_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 822 m.1806T>C 1806 T C 4 0.000550509 1 0.000137627 7266 0.000688137 MT_1806_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs1556422569 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 823 m.1807T>C 1807 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1807_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 824 m.1808A>G 1808 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_1808_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 825 m.1809T>C 1809 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_1809_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs879152207 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 826 m.1811A>G 1811 A G 183 0.025185797 0 0.000000000 7266 0.025185797 MT_1811_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs28358576 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 827 m.1812C>T 1812 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1812_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 828 m.1819T>C 1819 T C 11 0.001513900 0 0.000000000 7266 0.001513900 MT_1819_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 829 m.1821A>G 1821 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_1821_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422576 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 830 m.1822T>C 1822 T C 41 0.005642720 1 0.000137627 7266 0.005780347 MT_1822_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs1556422577 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 831 m.1824T>C 1824 T C 153 0.021056978 1 0.000137627 7266 0.021194605 MT_1824_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs1556422578 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 832 m.1835A>G 1835 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1835_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 833 m.1836A>G 1836 A G 8 0.001101018 1 0.000137627 7266 0.001238646 MT_1836_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs878853073 MODIFIER SNV MT-RNR2 Mt_rRNA - - uncertain_significance 834 m.1841T>C 1841 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1841_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 835 m.1842A>G 1842 A G 13 0.001789155 0 0.000000000 7266 0.001789155 MT_1842_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs200029818 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 836 m.1849C>T 1849 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1849_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 837 m.1860A>G 1860 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1860_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 838 m.1861T>C 1861 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1861_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 839 m.1864A>G 1864 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1864_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 840 m.1866T>C 1866 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1866_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 841 m.1872T>C 1872 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_1872_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 842 m.1876T>C 1876 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1876_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 843 m.1878T>C 1878 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1878_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 844 m.1888G>A 1888 G A 196 0.026974952 1 0.000137627 7266 0.027112579 MT_1888_G/A homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs2897260 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 845 m.1892A>G 1892 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_1892_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 846 m.1894G>A 1894 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1894_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 847 m.1896T>C 1896 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_1896_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs1556422582 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 848 m.1900A>AC 1900 A AC 0 0.000000000 2 0.000275255 7266 0.000275255 MT_1901_-/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR2 Mt_rRNA - - - 849 m.1900A>G 1900 A G 7 0.000963391 1 0.000137627 7266 0.001101018 MT_1900_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 850 m.1901C>T 1901 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1901_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 851 m.1913G>A 1913 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1913_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 852 m.1914A>G 1914 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_1914_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 853 m.1921A>G 1921 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1921_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 854 m.1927G>A 1927 G A 8 0.001101018 0 0.000000000 7266 0.001101018 MT_1927_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - rs878961531 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 855 m.1935A>G 1935 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1935_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs372167827 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 856 m.1943A>G 1943 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_1943_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422584 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 857 m.1949G>A 1949 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1949_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 858 m.1953ATG>A 1953 ATG A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1954_TG/- heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER deletion MT-RNR2 Mt_rRNA - - - 859 m.1955G>A 1955 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1955_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 860 m.1957A>G 1957 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1957_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 861 m.1958G>A 1958 G A 1 0.000137627 2 0.000275255 7266 0.000412882 MT_1958_G/A homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 862 m.1959C>T 1959 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1959_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 863 m.1964T>C 1964 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1964_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 864 m.1966G>A 1966 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_1966_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 865 m.1969G>A 1969 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_1969_G/A homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 866 m.1975T>C 1975 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1975_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 867 m.1976T>C 1976 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1976_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 868 m.1978A>C 1978 A C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_1978_A/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 869 m.1978A>G 1978 A G 26 0.003578310 0 0.000000000 7266 0.003578310 MT_1978_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 870 m.1979T>C 1979 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1979_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 871 m.1982G>A 1982 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1982_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 872 m.1988G>A 1988 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_1988_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 873 m.1999A>G 1999 A G 0 0.000000000 4 0.000550509 7266 0.000550509 MT_1999_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 874 m.2000C>T 2000 C T 22 0.003027801 0 0.000000000 7266 0.003027801 MT_2000_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 875 m.2005C>T 2005 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2005_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 876 m.2010T>C 2010 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_2010_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs28569464 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 877 m.2011G>A 2011 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2011_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 878 m.2013T>C 2013 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2013_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 879 m.2015G>A 2015 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2015_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 880 m.2019G>A 2019 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2019_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 881 m.2022G>A 2022 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2022_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 882 m.2030T>C 2030 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2030_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 883 m.2032G>A 2032 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2032_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 884 m.2042T>C 2042 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2042_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 885 m.2045A>G 2045 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_2045_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 886 m.2056G>A 2056 G A 29 0.003991192 0 0.000000000 7266 0.003991192 MT_2056_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - rs202087883 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 887 m.2059C>T 2059 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2059_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 888 m.2065A>G 2065 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2065_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 889 m.2069T>C 2069 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2069_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 890 m.2070C>T 2070 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_2070_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 891 m.2071T>C 2071 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2071_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 892 m.2072A>G 2072 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_2072_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 893 m.2075T>C 2075 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2075_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - rs879140762 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 894 m.2080T>C 2080 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_2080_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs200040509 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 895 m.2083T>C 2083 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_2083_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 896 m.2092C>T 2092 C T 33 0.004541701 0 0.000000000 7266 0.004541701 MT_2092_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs28588170 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 897 m.2093T>C 2093 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_2093_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 898 m.2098G>A 2098 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2098_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422597 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 899 m.2105G>A 2105 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2105_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 900 m.2107G>A 2107 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2107_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 901 m.2110A>G 2110 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2110_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 902 m.2117T>C 2117 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2117_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 903 m.2120G>A 2120 G A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_2120_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - rs878958423 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 904 m.2121G>A 2121 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2121_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 905 m.2122A>G 2122 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2122_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 906 m.2124A>G 2124 A G 4 0.000550509 1 0.000137627 7266 0.000688137 MT_2124_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 907 m.2128G>A 2128 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2128_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 908 m.2129GA>G 2129 GA G 0 0.000000000 3 0.000412882 7266 0.000412882 MT_2130_A/- heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER deletion MT-RNR2 Mt_rRNA - - - 909 m.2140G>A 2140 G A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_2140_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - rs879196602 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 910 m.2141T>C 2141 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2141_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422598 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 911 m.2141T>TAG 2141 T TAG 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2142_-/AG heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR2 Mt_rRNA - - - 912 m.2141TAG>T 2141 TAG T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2142_AG/- heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER deletion MT-RNR2 Mt_rRNA - - - 913 m.2142A>G 2142 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2142_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 914 m.2149G>A 2149 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2149_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 915 m.2150T>C 2150 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2150_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 916 m.2150T>TA 2150 T TA 22 0.003027801 0 0.000000000 7266 0.003027801 MT_2151_-/A homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR2 Mt_rRNA - - - 917 m.2156A>G 2156 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2156_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 918 m.2158T>C 2158 T C 14 0.001926782 0 0.000000000 7266 0.001926782 MT_2158_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs41349444 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 919 m.2159T>C 2159 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_2159_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422604 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 920 m.2163A>G 2163 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2163_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs1569483830 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 921 m.2174G>A 2174 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2174_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 922 m.2185G>A 2185 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2185_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 923 m.2189C>T 2189 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2189_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 924 m.2193T>C 2193 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2193_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 925 m.2195A>G 2195 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2195_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 926 m.2201G>A 2201 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2201_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 927 m.2205T>C 2205 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2205_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 928 m.2211T>C 2211 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2211_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 929 m.2217C>T 2217 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2217_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs879120963 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 930 m.2218C>T 2218 C T 10 0.001376273 1 0.000137627 7266 0.001513900 MT_2218_C/T homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs200813159 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 931 m.2220A>G 2220 A G 29 0.003991192 2 0.000275255 7266 0.004266446 MT_2220_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 932 m.2222T>C 2222 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2222_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 933 m.2223A>G 2223 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2223_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 934 m.2226T>C 2226 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_2226_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 935 m.2226T>TA 2226 T TA 51 0.007018993 0 0.000000000 7266 0.007018993 MT_2227_-/A homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR2 Mt_rRNA - - - 936 m.2231A>G 2231 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2231_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 937 m.2233T>C 2233 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2233_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 938 m.2238A>G 2238 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2238_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422610 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 939 m.2239A>G 2239 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2239_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs879187915 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 940 m.2242T>C 2242 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2242_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 941 m.2244T>C 2244 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_2244_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs879048099 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 942 m.2245A>C 2245 A C 24 0.003303055 0 0.000000000 7266 0.003303055 MT_2245_A/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs3020600 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 943 m.2245A>G 2245 A G 29 0.003991192 0 0.000000000 7266 0.003991192 MT_2245_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs3020600 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 944 m.2246A>G 2246 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_2246_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 945 m.2248T>C 2248 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2248_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs375356972 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 946 m.2251A>G 2251 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_2251_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 947 m.2253T>C 2253 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2253_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 948 m.2259C>T 2259 C T 18 0.002477291 0 0.000000000 7266 0.002477291 MT_2259_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs201336470 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 949 m.2260A>G 2260 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2260_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 950 m.2261C>T 2261 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2261_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 951 m.2263C>A 2263 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2263_C/A homo ENSG00000210082 non_coding_transcript_exon_variant - rs386828890 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 952 m.2272C>T 2272 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_2272_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 953 m.2274A>G 2274 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2274_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 954 m.2275T>C 2275 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2275_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 955 m.2280C>T 2280 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2280_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs879097811 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 956 m.2281A>C 2281 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2281_A/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 957 m.2281A>G 2281 A G 8 0.001101018 1 0.000137627 7266 0.001238646 MT_2281_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 958 m.2282C>T 2282 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2282_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 959 m.2283C>T 2283 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_2283_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs200131896 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 960 m.2285T>C 2285 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2285_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 961 m.2294A>G 2294 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2294_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs878904612 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 962 m.2300G>A 2300 G A 0 0.000000000 4 0.000550509 7266 0.000550509 MT_2300_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 963 m.2304G>A 2304 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2304_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 964 m.2307T>C 2307 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2307_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 965 m.2308A>G 2308 A G 6 0.000825764 1 0.000137627 7266 0.000963391 MT_2308_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs369047424 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 966 m.2315A>G 2315 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2315_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 967 m.2322C>A 2322 C A 6 0.000825764 0 0.000000000 7266 0.000825764 MT_2322_C/A homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 968 m.2330T>C 2330 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2330_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 969 m.2331C>A 2331 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2331_C/A homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 970 m.2332C>T 2332 C T 117 0.016102395 1 0.000137627 7266 0.016240022 MT_2332_C/T homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs28358578 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 971 m.2338A>G 2338 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2338_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 972 m.2345G>A 2345 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2345_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 973 m.2346T>C 2346 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2346_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 974 m.2351T>C 2351 T C 1 0.000137627 3 0.000412882 7266 0.000550509 MT_2351_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs879251496 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 975 m.2352T>C 2352 T C 270 0.037159372 0 0.000000000 7266 0.037159372 MT_2352_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs28358579 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 976 m.2355A>G 2355 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_2355_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 977 m.2356A>C 2356 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2356_A/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 978 m.2356A>G 2356 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2356_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 979 m.2357C>A 2357 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2357_C/A homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 980 m.2358A>G 2358 A G 37 0.005092210 0 0.000000000 7266 0.005092210 MT_2358_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs200437350 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 981 m.2360T>C 2360 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2360_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 982 m.2361G>A 2361 G A 41 0.005642720 0 0.000000000 7266 0.005642720 MT_2361_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - rs878883576 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 983 m.2363A>G 2363 A G 10 0.001376273 1 0.000137627 7266 0.001513900 MT_2363_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 984 m.2370A>G 2370 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2370_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 985 m.2371T>C 2371 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2371_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 986 m.2378C>T 2378 C T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_2378_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422619 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 987 m.2380C>T 2380 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_2380_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422622 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 988 m.2386C>T 2386 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2386_C/T heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 989 m.2387T>C 2387 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_2387_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs878977214 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 990 m.2389C>T 2389 C T 31 0.004266446 0 0.000000000 7266 0.004266446 MT_2389_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 991 m.2392T>C 2392 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_2392_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422625 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 992 m.2393C>T 2393 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_2393_C/T homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs879239190 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 993 m.2393CA>C 2393 CA C 54 0.007431874 0 0.000000000 7266 0.007431874 MT_2394_A/- homo ENSG00000210082 non_coding_transcript_exon_variant - rs878852991 MODIFIER deletion MT-RNR2 Mt_rRNA - - - 994 m.2395A>G 2395 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2395_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 995 m.2396C>T 2396 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2396_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 996 m.2399A>G 2399 A G 4 0.000550509 1 0.000137627 7266 0.000688137 MT_2399_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs1556422627 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 997 m.2404T>C 2404 T C 11 0.001513900 0 0.000000000 7266 0.001513900 MT_2404_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 998 m.2404T>TC 2404 T TC 4 0.000550509 0 0.000000000 7266 0.000550509 MT_2405_-/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR2 Mt_rRNA - - - 999 m.2407T>C 2407 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2407_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1000 m.2412A>G 2412 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_2412_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1001 m.2414C>T 2414 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2414_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1002 m.2416T>C 2416 T C 328 0.045141756 1 0.000137627 7266 0.045279383 MT_2416_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs28358580 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1003 m.2417C>G 2417 C G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2417_C/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs202231373 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1004 m.2418A>G 2418 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2418_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1005 m.2425A>G 2425 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2425_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1006 m.2436G>A 2436 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2436_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - rs1556422630 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1007 m.2438A>G 2438 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2438_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1008 m.2440G>A 2440 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2440_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1009 m.2442T>A 2442 T A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_2442_T/A homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1010 m.2442T>C 2442 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_2442_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs878892298 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1011 m.2445T>C 2445 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_2445_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1012 m.2448G>A 2448 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2448_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1013 m.2449GA>G 2449 GA G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2450_A/- heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER deletion MT-RNR2 Mt_rRNA - - - 1014 m.2452A>G 2452 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2452_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1015 m.2470G>A 2470 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2470_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - rs28534550 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1016 m.2478G>A 2478 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2478_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1017 m.2483T>C 2483 T C 16 0.002202037 0 0.000000000 7266 0.002202037 MT_2483_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs28445203 MODIFIER SNV MT-RNR2 Mt_rRNA - - uncertain_significance 1018 m.2484C>T 2484 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_2484_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1019 m.2492G>A 2492 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2492_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1020 m.2510T>C 2510 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2510_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1021 m.2523C>T 2523 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2523_C/T heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1022 m.2524A>G 2524 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2524_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1023 m.2534G>A 2534 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2534_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1024 m.2535A>G 2535 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2535_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1025 m.2537G>A 2537 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2537_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1026 m.2542G>A 2542 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2542_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1027 m.2551G>A 2551 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2551_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1028 m.2553G>A 2553 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2553_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1029 m.2558A>G 2558 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_2558_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422636 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1030 m.2561T>C 2561 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2561_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1031 m.2562T>C 2562 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2562_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1032 m.2563T>C 2563 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2563_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1033 m.2566C>T 2566 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2566_C/T heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1034 m.2574G>A 2574 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2574_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1035 m.2575T>C 2575 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2575_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1036 m.2576A>G 2576 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2576_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1037 m.2581A>G 2581 A G 13 0.001789155 0 0.000000000 7266 0.001789155 MT_2581_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs879150920 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1038 m.2589A>G 2589 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2589_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1039 m.2596G>A 2596 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2596_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - rs28410322 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1040 m.2608G>A 2608 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2608_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1041 m.2617A>G 2617 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2617_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1042 m.2618T>C 2618 T C 0 0.000000000 4 0.000550509 7266 0.000550509 MT_2618_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1043 m.2619A>G 2619 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2619_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1044 m.2620G>A 2620 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2620_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1045 m.2623A>G 2623 A G 0 0.000000000 9 0.001238646 7266 0.001238646 MT_2623_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1046 m.2626T>C 2626 T C 21 0.002890173 0 0.000000000 7266 0.002890173 MT_2626_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs879158835 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1047 m.2628T>C 2628 T C 1 0.000137627 2 0.000275255 7266 0.000412882 MT_2628_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs1556422638 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1048 m.2631G>C 2631 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2631_G/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1049 m.2633A>G 2633 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2633_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1050 m.2634T>C 2634 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2634_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1051 m.2635G>A 2635 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2635_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1052 m.2636G>A 2636 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2636_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1053 m.2638T>C 2638 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2638_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - rs1556422640 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1054 m.2639C>T 2639 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_2639_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1055 m.2643G>A 2643 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2643_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1056 m.2646G>A 2646 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2646_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1057 m.2648T>C 2648 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2648_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1058 m.2649T>C 2649 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_2649_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1059 m.2651A>T 2651 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2651_A/T heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1060 m.2652G>A 2652 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2652_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1061 m.2654T>C 2654 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2654_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1062 m.2673G>A 2673 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2673_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1063 m.2679T>C 2679 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2679_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1064 m.2685T>G 2685 T G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2685_T/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1065 m.2690G>A 2690 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2690_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - rs28602676 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1066 m.2695G>A 2695 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2695_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1067 m.2700G>A 2700 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2700_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1068 m.2701G>A 2701 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2701_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1069 m.2702G>A 2702 G A 2 0.000275255 2 0.000275255 7266 0.000550509 MT_2702_G/A homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs879133847 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1070 m.2706A>G 2706 A G 6884 0.947426369 1 0.000137627 7266 0.947563997 MT_2706_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs2854128 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1071 m.2707A>C 2707 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2707_A/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1072 m.2707A>G 2707 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_2707_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs879008512 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1073 m.2709A>G 2709 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2709_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1074 m.2710C>T 2710 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2710_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1075 m.2714A>G 2714 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2714_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1076 m.2721G>A 2721 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2721_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1077 m.2729T>C 2729 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2729_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1078 m.2730A>G 2730 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2730_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1079 m.2734A>G 2734 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2734_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1080 m.2735G>A 2735 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_2735_G/A homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1081 m.2738T>C 2738 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2738_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1082 m.2744T>C 2744 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2744_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1083 m.2746T>C 2746 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_2746_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs28663331 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1084 m.2755A>G 2755 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_2755_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs28619217 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1085 m.2756C>T 2756 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2756_C/T heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1086 m.2757A>G 2757 A G 11 0.001513900 0 0.000000000 7266 0.001513900 MT_2757_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422647 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1087 m.2758G>A 2758 G A 218 0.030002753 3 0.000412882 7266 0.030415634 MT_2758_G/A homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs2856980 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1088 m.2759T>C 2759 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2759_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1089 m.2760A>G 2760 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_2760_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs386828893 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1090 m.2761C>T 2761 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2761_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1091 m.2763T>C 2763 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_2763_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1092 m.2763TA>T 2763 TA T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2764_A/- heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER deletion MT-RNR2 Mt_rRNA - - - 1093 m.2765A>G 2765 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2765_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - rs1556422649 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1094 m.2766C>T 2766 C T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_2766_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1095 m.2768A>G 2768 A G 116 0.015964767 0 0.000000000 7266 0.015964767 MT_2768_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs3895615 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1096 m.2772C>A 2772 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2772_C/A homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1097 m.2772C>T 2772 C T 22 0.003027801 0 0.000000000 7266 0.003027801 MT_2772_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs200221487 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1098 m.2775A>G 2775 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2775_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1099 m.2778T>C 2778 T C 1 0.000137627 2 0.000275255 7266 0.000412882 MT_2778_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1100 m.2780C>A 2780 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2780_C/A homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1101 m.2780C>T 2780 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_2780_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs386828894 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1102 m.2783A>G 2783 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2783_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1103 m.2786T>C 2786 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2786_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1104 m.2788C>T 2788 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2788_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs386828895 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1105 m.2789C>CT 2789 C CT 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2790_-/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR2 Mt_rRNA - - - 1106 m.2789C>T 2789 C T 200 0.027525461 1 0.000137627 7266 0.027663088 MT_2789_C/T homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs28358581 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1107 m.2789CA>C 2789 CA C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2790_A/- heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER deletion MT-RNR2 Mt_rRNA - - - 1108 m.2792A>C 2792 A C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_2792_A/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1109 m.2794C>T 2794 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2794_C/T heter ENSG00000210082 non_coding_transcript_exon_variant - rs28692794 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1110 m.2795T>C 2795 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2795_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1111 m.2800T>C 2800 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2800_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1112 m.2800TA>T 2800 TA T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2801_A/- heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER deletion MT-RNR2 Mt_rRNA - - - 1113 m.2804A>G 2804 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2804_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1114 m.2809C>T 2809 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2809_C/T heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1115 m.2810G>A 2810 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2810_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1116 m.2811G>A 2811 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2811_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1117 m.2812T>C 2812 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2812_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1118 m.2817G>A 2817 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2817_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1119 m.2818C>T 2818 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2818_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1120 m.2823T>C 2823 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2823_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1121 m.2831G>A 2831 G A 20 0.002752546 2 0.000275255 7266 0.003027801 MT_2831_G/A homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs199713564 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1122 m.2831G>T 2831 G T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_2831_G/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1123 m.2833A>C 2833 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2833_A/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1124 m.2833A>G 2833 A G 16 0.002202037 4 0.000550509 7266 0.002752546 MT_2833_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs3928312 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1125 m.2834C>G 2834 C G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2834_C/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1126 m.2835C>T 2835 C T 77 0.010597303 0 0.000000000 7266 0.010597303 MT_2835_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs386828897 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1127 m.2836C>T 2836 C T 15 0.002064410 0 0.000000000 7266 0.002064410 MT_2836_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1128 m.2838A>G 2838 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2838_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1129 m.2849G>A 2849 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2849_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422658 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1130 m.2850T>C 2850 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_2850_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs878915790 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1131 m.2850T>G 2850 T G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2850_T/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1132 m.2851A>G 2851 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_2851_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422660 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1133 m.2855G>A 2855 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2855_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1134 m.2857T>C 2857 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_2857_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs2854129 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1135 m.2863T>C 2863 T C 13 0.001789155 1 0.000137627 7266 0.001926782 MT_2863_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs28393169 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1136 m.2864T>C 2864 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_2864_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1137 m.2865C>T 2865 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_2865_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1138 m.2879A>G 2879 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_2879_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1139 m.2880A>G 2880 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_2880_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs879066829 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1140 m.2881C>T 2881 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_2881_C/T homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1141 m.2882T>C 2882 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2882_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1142 m.2883A>G 2883 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2883_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1143 m.2884C>T 2884 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_2884_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1144 m.2885T>C 2885 T C 236 0.032480044 1 0.000137627 7266 0.032617671 MT_2885_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs2854130 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1145 m.2887T>C 2887 T C 28 0.003853565 1 0.000137627 7266 0.003991192 MT_2887_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs879221307 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1146 m.2889C>T 2889 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2889_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1147 m.2890T>C 2890 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2890_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1148 m.2891C>T 2891 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2891_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1149 m.2895T>G 2895 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2895_T/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1150 m.2896G>A 2896 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2896_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1151 m.2898T>C 2898 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2898_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1152 m.2903T>C 2903 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_2903_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1153 m.2906C>T 2906 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_2906_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1154 m.2911C>T 2911 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2911_C/T heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1155 m.2916G>A 2916 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2916_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1156 m.2923G>A 2923 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2923_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1157 m.2924T>C 2924 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2924_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1158 m.2927C>T 2927 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2927_C/T heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1159 m.2932G>A 2932 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2932_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1160 m.2944C>T 2944 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2944_C/T heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1161 m.2947T>C 2947 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2947_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1162 m.2951A>G 2951 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2951_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1163 m.2960T>C 2960 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2960_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1164 m.2963A>G 2963 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2963_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1165 m.2967C>T 2967 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_2967_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1166 m.2975G>A 2975 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_2975_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1167 m.2978T>C 2978 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2978_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1168 m.2989G>A 2989 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_2989_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1169 m.2992G>A 2992 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2992_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1170 m.2998T>C 2998 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_2998_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1171 m.3002G>A 3002 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3002_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1172 m.3003A>G 3003 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3003_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1173 m.3004C>T 3004 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3004_C/T heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1174 m.3005A>C 3005 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3005_A/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1175 m.3010G>A 3010 G A 1096 0.150839527 1 0.000137627 7266 0.150977154 MT_3010_G/A homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs3928306 MODIFIER SNV MT-RNR2 Mt_rRNA - - not_provided 1176 m.3016G>A 3016 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3016_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1177 m.3019G>A 3019 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3019_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1178 m.3022G>A 3022 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3022_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - rs28645831 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1179 m.3027T>C 3027 T C 17 0.002339664 0 0.000000000 7266 0.002339664 MT_3027_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs199838004 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1180 m.3032G>A 3032 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3032_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1181 m.3033T>C 3033 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3033_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1182 m.3036G>A 3036 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3036_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1183 m.3049T>C 3049 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3049_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1184 m.3055T>C 3055 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3055_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1185 m.3071T>C 3071 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3071_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1186 m.3075G>C 3075 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3075_G/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1187 m.3076A>G 3076 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3076_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1188 m.3083T>C 3083 T C 21 0.002890173 0 0.000000000 7266 0.002890173 MT_3083_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1189 m.3084A>G 3084 A G 5 0.000688137 1 0.000137627 7266 0.000825764 MT_3084_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1190 m.3085A>G 3085 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3085_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1191 m.3095G>A 3095 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3095_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1192 m.3096T>C 3096 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3096_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1193 m.3105A>G 3105 A G 12 0.001651528 0 0.000000000 7266 0.001651528 MT_3105_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - rs878859350 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1194 m.3108T>C 3108 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3108_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1195 m.3111A>T 3111 A T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_3111_A/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1196 m.3112A>G 3112 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3112_A/G heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1197 m.3114T>C 3114 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3114_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1198 m.3116C>T 3116 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_3116_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs112161681 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1199 m.3123G>A 3123 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3123_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1200 m.3124T>C 3124 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3124_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1201 m.3127G>A 3127 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3127_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1202 m.3140A>G 3140 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3140_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1203 m.3143T>C 3143 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3143_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1204 m.3144A>G 3144 A G 11 0.001513900 1 0.000137627 7266 0.001651528 MT_3144_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs1556422678 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1205 m.3145A>G 3145 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_3145_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1206 m.3146G>A 3146 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3146_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1207 m.3150T>C 3150 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_3150_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1208 m.3153T>C 3153 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3153_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1209 m.3158A>AT 3158 A AT 8 0.001101018 0 0.000000000 7266 0.001101018 MT_3159_-/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422679 MODIFIER insertion MT-RNR2 Mt_rRNA - - - 1210 m.3163G>A 3163 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3163_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1211 m.3166T>C 3166 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3166_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1212 m.3167T>TC 3167 T TC 68 0.009358657 0 0.000000000 7266 0.009358657 MT_3168_-/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR2 Mt_rRNA - - - 1213 m.3167T>TCC 3167 T TCC 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3168_-/CC homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER insertion MT-RNR2 Mt_rRNA - - - 1214 m.3169C>T 3169 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_3169_C/T homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs1057520173 MODIFIER SNV MT-RNR2 Mt_rRNA - - uncertain_significance 1215 m.3170C>T 3170 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3170_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1216 m.3172C>A 3172 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3172_C/A homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1217 m.3173G>A 3173 G A 2 0.000275255 4 0.000550509 7266 0.000825764 MT_3173_G/A homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1218 m.3174T>C 3174 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3174_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1219 m.3179G>A 3179 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3179_G/A heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1220 m.3183T>C 3183 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3183_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1221 m.3192C>T 3192 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3192_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422682 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1222 m.3196G>A 3196 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3196_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - rs28434229 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1223 m.3197T>C 3197 T C 108 0.014863749 0 0.000000000 7266 0.014863749 MT_3197_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs2854131 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1224 m.3198A>G 3198 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3198_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1225 m.3199T>C 3199 T C 1 0.000137627 2 0.000275255 7266 0.000412882 MT_3199_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1226 m.3200T>A 3200 T A 68 0.009358657 0 0.000000000 7266 0.009358657 MT_3200_T/A homo ENSG00000210082 non_coding_transcript_exon_variant - rs199993153 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1227 m.3200T>C 3200 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_3200_T/C homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs199993153 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1228 m.3202T>C 3202 T C 16 0.002202037 0 0.000000000 7266 0.002202037 MT_3202_T/C homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422685 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1229 m.3203A>G 3203 A G 9 0.001238646 1 0.000137627 7266 0.001376273 MT_3203_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs878926544 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1230 m.3204C>T 3204 C T 21 0.002890173 0 0.000000000 7266 0.002890173 MT_3204_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs368660493 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1231 m.3205C>T 3205 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3205_C/T heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1232 m.3206C>T 3206 C T 153 0.021056978 0 0.000000000 7266 0.021056978 MT_3206_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs200999343 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1233 m.3208C>T 3208 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3208_C/T heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1234 m.3209A>C 3209 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3209_A/C homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1235 m.3209A>G 3209 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3209_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1236 m.3209A>T 3209 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3209_A/T homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1237 m.3210C>T 3210 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_3210_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs28553329 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1238 m.3212C>T 3212 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3212_C/T homo ENSG00000210082 non_coding_transcript_exon_variant - rs1556422690 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1239 m.3213A>G 3213 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3213_A/G homo ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1240 m.3214C>T 3214 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3214_C/T heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1241 m.3219G>A 3219 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3219_G/A homo ENSG00000210082 non_coding_transcript_exon_variant - rs28435334 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1242 m.3221A>G 3221 A G 21 0.002890173 2 0.000275255 7266 0.003165428 MT_3221_A/G homo&heter ENSG00000210082 non_coding_transcript_exon_variant - rs1556422691 MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1243 m.3222C>T 3222 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3222_C/T heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1244 m.3228T>C 3228 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3228_T/C heter ENSG00000210082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-RNR2 Mt_rRNA - - - 1245 m.3229T>TA 3229 T TA 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3230_-/A homo - intergenic_variant - rs1556422692 MODIFIER insertion - - - - - 1246 m.3230G>A 3230 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3230_G/A heter ENSG00000209082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL1 Mt_tRNA - - - 1247 m.3243A>G 3243 A G 0 0.000000000 5 0.000688137 7266 0.000688137 MT_3243_A/G heter ENSG00000209082 non_coding_transcript_exon_variant - rs199474657 MODIFIER SNV MT-TL1 Mt_tRNA - - pathogenic 1248 m.3244G>A 3244 G A 0 0.000000000 5 0.000688137 7266 0.000688137 MT_3244_G/A heter ENSG00000209082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL1 Mt_tRNA - - - 1249 m.3250T>C 3250 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3250_T/C heter ENSG00000209082 non_coding_transcript_exon_variant - rs199474664 MODIFIER SNV MT-TL1 Mt_tRNA - - uncertain_significance,pathogenic 1250 m.3253T>C 3253 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3253_T/C homo ENSG00000209082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL1 Mt_tRNA - - - 1251 m.3254C>A 3254 C A 11 0.001513900 0 0.000000000 7266 0.001513900 MT_3254_C/A homo ENSG00000209082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL1 Mt_tRNA - - - 1252 m.3255G>A 3255 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3255_G/A heter ENSG00000209082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL1 Mt_tRNA - - - 1253 m.3257A>G 3257 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3257_A/G homo ENSG00000209082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL1 Mt_tRNA - - - 1254 m.3269A>C 3269 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3269_A/C homo ENSG00000209082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL1 Mt_tRNA - - - 1255 m.3275C>T 3275 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3275_C/T homo ENSG00000209082 non_coding_transcript_exon_variant - rs1057516057 MODIFIER SNV MT-TL1 Mt_tRNA - - uncertain_significance,benign 1256 m.3277G>A 3277 G A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_3277_G/A homo ENSG00000209082 non_coding_transcript_exon_variant - rs386828902 MODIFIER SNV MT-TL1 Mt_tRNA - - - 1257 m.3278T>C 3278 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_3278_T/C homo&heter ENSG00000209082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL1 Mt_tRNA - - - 1258 m.3283G>A 3283 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3283_G/A heter ENSG00000209082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL1 Mt_tRNA - - - 1259 m.3290T>C 3290 T C 48 0.006606111 2 0.000275255 7266 0.006881365 MT_3290_T/C homo&heter ENSG00000209082 non_coding_transcript_exon_variant - rs199474665 MODIFIER SNV MT-TL1 Mt_tRNA - - pathogenic,benign 1260 m.3302A>G 3302 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3302_A/G heter ENSG00000209082 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL1 Mt_tRNA - - - 1261 m.3305A>G 3305 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3305_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 1262 m.3306C>T 3306 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3306_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 1263 m.3308T>C 3308 T C 128 0.017616295 2 0.000275255 7266 0.017891550 MT_3308_T/C homo&heter ENSG00000198888 start_lost aTa/aCa rs28358582 HIGH SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.978) likely_benign,benign,pathogenic 1264 m.3310C>T 3310 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3310_C/T homo ENSG00000198888 missense_variant Ccc/Tcc - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.38) benign(0.093) - 1265 m.3311C>T 3311 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3311_C/T homo ENSG00000198888 missense_variant cCc/cTc - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.62) benign(0.005) - 1266 m.3312C>T 3312 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3312_C/T homo ENSG00000198888 synonymous_variant ccC/ccT - LOW SNV MT-ND1 protein_coding - - - 1267 m.3316G>A 3316 G A 169 0.023259015 2 0.000275255 7266 0.023534269 MT_3316_G/A homo&heter ENSG00000198888 missense_variant Gcc/Acc rs2853516 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.18) benign(0) - 1268 m.3320A>G 3320 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3320_A/G heter ENSG00000198888 missense_variant aAc/aGc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.997) - 1269 m.3324C>T 3324 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_3324_C/T homo ENSG00000198888 synonymous_variant ctC/ctT - LOW SNV MT-ND1 protein_coding - - - 1270 m.3331C>T 3331 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3331_C/T homo ENSG00000198888 missense_variant Ctc/Ttc rs878932147 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.27) possibly_damaging(0.659) - 1271 m.3333C>T 3333 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3333_C/T homo ENSG00000198888 synonymous_variant ctC/ctT rs1556422705 LOW SNV MT-ND1 protein_coding - - - 1272 m.3335T>C 3335 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_3335_T/C homo&heter ENSG00000198888 missense_variant aTt/aCt rs879173824 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.02) benign(0.01) - 1273 m.3336T>C 3336 T C 36 0.004954583 0 0.000000000 7266 0.004954583 MT_3336_T/C homo ENSG00000198888 synonymous_variant atT/atC rs28416101 LOW SNV MT-ND1 protein_coding - - - 1274 m.3337G>A 3337 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_3337_G/A homo&heter ENSG00000198888 missense_variant Gta/Ata rs1556422709 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.09) benign(0.02) - 1275 m.3338T>C 3338 T C 19 0.002614919 0 0.000000000 7266 0.002614919 MT_3338_T/C homo ENSG00000198888 missense_variant gTa/gCa rs201969351 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.13) benign(0.006) - 1276 m.3339A>G 3339 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3339_A/G homo ENSG00000198888 synonymous_variant gtA/gtG - LOW SNV MT-ND1 protein_coding - - - 1277 m.3342C>T 3342 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3342_C/T homo ENSG00000198888 synonymous_variant ccC/ccT rs879102785 LOW SNV MT-ND1 protein_coding - - - 1278 m.3343A>G 3343 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3343_A/G heter ENSG00000198888 missense_variant Att/Gtt - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.64) benign(0) - 1279 m.3344T>C 3344 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3344_T/C heter ENSG00000198888 missense_variant aTt/aCt - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.05) benign(0) - 1280 m.3345T>C 3345 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3345_T/C homo ENSG00000198888 synonymous_variant atT/atC rs1556422713 LOW SNV MT-ND1 protein_coding - - - 1281 m.3346C>T 3346 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3346_C/T homo ENSG00000198888 synonymous_variant Cta/Tta - LOW SNV MT-ND1 protein_coding - - - 1282 m.3348A>G 3348 A G 17 0.002339664 0 0.000000000 7266 0.002339664 MT_3348_A/G homo ENSG00000198888 synonymous_variant ctA/ctG rs41423746 LOW SNV MT-ND1 protein_coding - - - 1283 m.3349A>G 3349 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_3349_A/G homo ENSG00000198888 missense_variant Atc/Gtc rs879193727 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.11) benign(0.005) - 1284 m.3350T>C 3350 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3350_T/C homo ENSG00000198888 missense_variant aTc/aCc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) benign(0.011) - 1285 m.3351C>T 3351 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_3351_C/T homo ENSG00000198888 synonymous_variant atC/atT - LOW SNV MT-ND1 protein_coding - - - 1286 m.3352G>A 3352 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3352_G/A heter ENSG00000198888 missense_variant Gca/Aca - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1287 m.3357G>A 3357 G A 8 0.001101018 2 0.000275255 7266 0.001376273 MT_3357_G/A homo&heter ENSG00000198888 synonymous_variant atG/atA rs1556422714 LOW SNV MT-ND1 protein_coding - - - 1288 m.3358G>A 3358 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3358_G/A heter ENSG00000198888 missense_variant Gca/Aca rs1556422715 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1289 m.3360A>G 3360 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3360_A/G homo ENSG00000198888 synonymous_variant gcA/gcG rs879023598 LOW SNV MT-ND1 protein_coding - - - 1290 m.3363C>T 3363 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3363_C/T homo ENSG00000198888 synonymous_variant ttC/ttT - LOW SNV MT-ND1 protein_coding - - - 1291 m.3368T>C 3368 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_3368_T/C homo&heter ENSG00000198888 missense_variant aTg/aCg - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(1) benign(0) - 1292 m.3370C>T 3370 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3370_C/T heter ENSG00000198888 missense_variant Ctt/Ttt - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1293 m.3372T>C 3372 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3372_T/C homo ENSG00000198888 synonymous_variant ctT/ctC - LOW SNV MT-ND1 protein_coding - - - 1294 m.3378A>G 3378 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3378_A/G homo ENSG00000198888 synonymous_variant gaA/gaG - LOW SNV MT-ND1 protein_coding - - - 1295 m.3380G>A 3380 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3380_G/A heter ENSG00000198888 missense_variant cGa/cAa COSV62293468 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 1296 m.3384A>G 3384 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3384_A/G homo ENSG00000198888 synonymous_variant aaA/aaG rs878921178 LOW SNV MT-ND1 protein_coding - - - 1297 m.3385A>G 3385 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3385_A/G homo ENSG00000198888 missense_variant Att/Gtt rs879050714 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(1) benign(0.006) - 1298 m.3386T>C 3386 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3386_T/C homo ENSG00000198888 missense_variant aTt/aCt - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.05) benign(0.022) - 1299 m.3387T>C 3387 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_3387_T/C homo&heter ENSG00000198888 synonymous_variant atT/atC - LOW SNV MT-ND1 protein_coding - - - 1300 m.3388C>T 3388 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3388_C/T homo ENSG00000198888 synonymous_variant Cta/Tta - LOW SNV MT-ND1 protein_coding - - - 1301 m.3391G>A 3391 G A 9 0.001238646 0 0.000000000 7266 0.001238646 MT_3391_G/A homo ENSG00000198888 missense_variant Ggc/Agc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.04) probably_damaging(1) - 1302 m.3392G>C 3392 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3392_G/C homo ENSG00000198888 missense_variant gGc/gCc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1303 m.3394T>C 3394 T C 114 0.015689513 0 0.000000000 7266 0.015689513 MT_3394_T/C homo ENSG00000198888 missense_variant Tat/Cat rs41460449 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.02) benign(0.08) pathogenic,benign 1304 m.3395A>G 3395 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_3395_A/G homo&heter ENSG00000198888 missense_variant tAt/tGt rs1556422722 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) benign(0.08) - 1305 m.3396T>C 3396 T C 40 0.005505092 4 0.000550509 7266 0.006055601 MT_3396_T/C homo&heter ENSG00000198888 synonymous_variant taT/taC rs374875201,COSV62293147 LOW SNV MT-ND1 protein_coding - - likely_benign 1306 m.3397A>G 3397 A G 18 0.002477291 0 0.000000000 7266 0.002477291 MT_3397_A/G homo ENSG00000198888 missense_variant Ata/Gta rs199476120 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) benign(0.306) pathogenic,benign 1307 m.3398T>C 3398 T C 55 0.007569502 2 0.000275255 7266 0.007844756 MT_3398_T/C homo&heter ENSG00000198888 missense_variant aTa/aCa rs201212638 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) benign(0.019) - 1308 m.3399A>G 3399 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3399_A/G homo ENSG00000198888 synonymous_variant atA/atG - LOW SNV MT-ND1 protein_coding - - - 1309 m.3399A>T 3399 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3399_A/T homo ENSG00000198888 missense_variant atA/atT rs386828905 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) benign(0.306) - 1310 m.3402A>G 3402 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3402_A/G homo ENSG00000198888 synonymous_variant caA/caG - LOW SNV MT-ND1 protein_coding - - - 1311 m.3408C>T 3408 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3408_C/T homo ENSG00000198888 synonymous_variant cgC/cgT - LOW SNV MT-ND1 protein_coding - - - 1312 m.3408CA>C 3408 CA C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3409_A/- heter ENSG00000198888 frameshift_variant Aaa/aa - HIGH deletion MT-ND1 protein_coding - - - 1313 m.3417C>T 3417 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_3417_C/T homo ENSG00000198888 synonymous_variant ccC/ccT - LOW SNV MT-ND1 protein_coding - - - 1314 m.3420C>T 3420 C T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_3420_C/T homo ENSG00000198888 synonymous_variant aaC/aaT - LOW SNV MT-ND1 protein_coding - - - 1315 m.3421G>A 3421 G A 11 0.001513900 0 0.000000000 7266 0.001513900 MT_3421_G/A homo ENSG00000198888 missense_variant Gtt/Att COSV62293538 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(1) benign(0.001) - 1316 m.3423T>A 3423 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3423_T/A homo ENSG00000198888 synonymous_variant gtT/gtA - LOW SNV MT-ND1 protein_coding - - - 1317 m.3423T>C 3423 T C 17 0.002339664 0 0.000000000 7266 0.002339664 MT_3423_T/C homo ENSG00000198888 synonymous_variant gtT/gtC - LOW SNV MT-ND1 protein_coding - - - 1318 m.3426A>C 3426 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3426_A/C heter ENSG00000198888 synonymous_variant gtA/gtC - LOW SNV MT-ND1 protein_coding - - - 1319 m.3426A>G 3426 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_3426_A/G homo ENSG00000198888 synonymous_variant gtA/gtG - LOW SNV MT-ND1 protein_coding - - - 1320 m.3427G>A 3427 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3427_G/A heter ENSG00000198888 missense_variant Ggc/Agc COSV62293448 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1321 m.3428G>A 3428 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3428_G/A heter ENSG00000198888 missense_variant gGc/gAc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1322 m.3433T>C 3433 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3433_T/C heter ENSG00000198888 missense_variant Tac/Cac - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.11) benign(0.009) - 1323 m.3434A>G 3434 A G 76 0.010459675 1 0.000137627 7266 0.010597303 MT_3434_A/G homo&heter ENSG00000198888 missense_variant tAc/tGc rs202123618 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.02) benign(0.014) - 1324 m.3435C>T 3435 C T 41 0.005642720 0 0.000000000 7266 0.005642720 MT_3435_C/T homo ENSG00000198888 synonymous_variant taC/taT - LOW SNV MT-ND1 protein_coding - - - 1325 m.3438G>A 3438 G A 12 0.001651528 2 0.000275255 7266 0.001926782 MT_3438_G/A homo&heter ENSG00000198888 synonymous_variant ggG/ggA rs377699338 LOW SNV MT-ND1 protein_coding - - - 1326 m.3439C>T 3439 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3439_C/T homo ENSG00000198888 synonymous_variant Cta/Tta - LOW SNV MT-ND1 protein_coding - - - 1327 m.3441A>G 3441 A G 12 0.001651528 0 0.000000000 7266 0.001651528 MT_3441_A/G homo ENSG00000198888 synonymous_variant ctA/ctG - LOW SNV MT-ND1 protein_coding - - - 1328 m.3443T>C 3443 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3443_T/C heter ENSG00000198888 missense_variant cTa/cCa - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.988) - 1329 m.3444A>G 3444 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3444_A/G homo ENSG00000198888 synonymous_variant ctA/ctG - LOW SNV MT-ND1 protein_coding - - - 1330 m.3444A>T 3444 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3444_A/T homo ENSG00000198888 synonymous_variant ctA/ctT - LOW SNV MT-ND1 protein_coding - - - 1331 m.3447A>G 3447 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_3447_A/G homo ENSG00000198888 synonymous_variant caA/caG rs878853074 LOW SNV MT-ND1 protein_coding - - benign 1332 m.3450C>A 3450 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3450_C/A homo ENSG00000198888 synonymous_variant ccC/ccA - LOW SNV MT-ND1 protein_coding - - - 1333 m.3450C>T 3450 C T 95 0.013074594 0 0.000000000 7266 0.013074594 MT_3450_C/T homo ENSG00000198888 synonymous_variant ccC/ccT rs28358583 LOW SNV MT-ND1 protein_coding - - - 1334 m.3453C>T 3453 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3453_C/T homo ENSG00000198888 synonymous_variant ttC/ttT rs386828907 LOW SNV MT-ND1 protein_coding - - - 1335 m.3456T>C 3456 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3456_T/C homo ENSG00000198888 synonymous_variant gcT/gcC rs878937660 LOW SNV MT-ND1 protein_coding - - - 1336 m.3459C>T 3459 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3459_C/T homo ENSG00000198888 synonymous_variant gaC/gaT rs878998062 LOW SNV MT-ND1 protein_coding - - - 1337 m.3465A>G 3465 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_3465_A/G homo ENSG00000198888 synonymous_variant atA/atG - LOW SNV MT-ND1 protein_coding - - - 1338 m.3465A>T 3465 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3465_A/T homo ENSG00000198888 missense_variant atA/atT - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.34) benign(0.146) - 1339 m.3468ACT>A 3468 ACT A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3469_CT/- heter ENSG00000198888 frameshift_variant CTc/c - HIGH deletion MT-ND1 protein_coding - - - 1340 m.3472T>C 3472 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3472_T/C homo ENSG00000198888 missense_variant Ttc/Ctc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) possibly_damaging(0.654) - 1341 m.3474C>T 3474 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3474_C/T homo ENSG00000198888 synonymous_variant ttC/ttT - LOW SNV MT-ND1 protein_coding - - - 1342 m.3477C>T 3477 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3477_C/T homo ENSG00000198888 synonymous_variant acC/acT rs1556422734 LOW SNV MT-ND1 protein_coding - - - 1343 m.3480A>G 3480 A G 45 0.006193229 0 0.000000000 7266 0.006193229 MT_3480_A/G homo ENSG00000198888 synonymous_variant aaA/aaG rs28358584 LOW SNV MT-ND1 protein_coding - - - 1344 m.3483G>A 3483 G A 44 0.006055601 0 0.000000000 7266 0.006055601 MT_3483_G/A homo ENSG00000198888 synonymous_variant gaG/gaA rs367578983 LOW SNV MT-ND1 protein_coding - - - 1345 m.3486C>T 3486 C T 19 0.002614919 0 0.000000000 7266 0.002614919 MT_3486_C/T homo ENSG00000198888 synonymous_variant ccC/ccT rs373589699 LOW SNV MT-ND1 protein_coding - - - 1346 m.3487CT>C 3487 CT C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3488_T/- heter ENSG00000198888 frameshift_variant cTa/ca - HIGH deletion MT-ND1 protein_coding - - - 1347 m.3488T>C 3488 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3488_T/C heter ENSG00000198888 missense_variant cTa/cCa - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.951) - 1348 m.3492A>G 3492 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_3492_A/G homo ENSG00000198888 synonymous_variant aaA/aaG - LOW SNV MT-ND1 protein_coding - - - 1349 m.3495C>A 3495 C A 7 0.000963391 0 0.000000000 7266 0.000963391 MT_3495_C/A homo ENSG00000198888 synonymous_variant ccC/ccA rs1569483879 LOW SNV MT-ND1 protein_coding - - - 1350 m.3496G>A 3496 G A 1 0.000137627 2 0.000275255 7266 0.000412882 MT_3496_G/A homo&heter ENSG00000198888 missense_variant Gcc/Acc COSV62294412 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.28) benign(0) - 1351 m.3496G>T 3496 G T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_3496_G/T homo ENSG00000198888 missense_variant Gcc/Tcc COSV62294412 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(1) benign(0) - 1352 m.3497C>T 3497 C T 115 0.015827140 0 0.000000000 7266 0.015827140 MT_3497_C/T homo ENSG00000198888 missense_variant gCc/gTc rs200319905 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.25) benign(0.009) - 1353 m.3498C>G 3498 C G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3498_C/G homo ENSG00000198888 synonymous_variant gcC/gcG - LOW SNV MT-ND1 protein_coding - - - 1354 m.3498C>T 3498 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3498_C/T homo ENSG00000198888 synonymous_variant gcC/gcT rs878982719 LOW SNV MT-ND1 protein_coding - - likely_benign 1355 m.3504T>C 3504 T C 25 0.003440683 2 0.000275255 7266 0.003715937 MT_3504_T/C homo&heter ENSG00000198888 synonymous_variant tcT/tcC - LOW SNV MT-ND1 protein_coding - - - 1356 m.3505A>G 3505 A G 50 0.006881365 1 0.000137627 7266 0.007018993 MT_3505_A/G homo&heter ENSG00000198888 missense_variant Acc/Gcc rs28358585 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) benign(0.009) benign 1357 m.3507C>A 3507 C A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3507_C/A homo ENSG00000198888 synonymous_variant acC/acA rs878879386 LOW SNV MT-ND1 protein_coding - - - 1358 m.3507C>T 3507 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3507_C/T homo ENSG00000198888 synonymous_variant acC/acT - LOW SNV MT-ND1 protein_coding - - - 1359 m.3510C>T 3510 C T 1 0.000137627 2 0.000275255 7266 0.000412882 MT_3510_C/T homo&heter ENSG00000198888 synonymous_variant atC/atT - LOW SNV MT-ND1 protein_coding - - - 1360 m.3511A>G 3511 A G 19 0.002614919 0 0.000000000 7266 0.002614919 MT_3511_A/G homo ENSG00000198888 missense_variant Acc/Gcc rs386828909 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.64) benign(0.009) - 1361 m.3511A>T 3511 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3511_A/T homo ENSG00000198888 missense_variant Acc/Tcc - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.63) benign(0.015) - 1362 m.3513C>T 3513 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_3513_C/T homo ENSG00000198888 synonymous_variant acC/acT rs28369556 LOW SNV MT-ND1 protein_coding - - - 1363 m.3516C>A 3516 C A 53 0.007294247 1 0.000137627 7266 0.007431874 MT_3516_C/A homo&heter ENSG00000198888 synonymous_variant ctC/ctA rs2854132 LOW SNV MT-ND1 protein_coding - - - 1364 m.3516C>T 3516 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_3516_C/T homo ENSG00000198888 synonymous_variant ctC/ctT - LOW SNV MT-ND1 protein_coding - - - 1365 m.3519C>T 3519 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3519_C/T homo ENSG00000198888 synonymous_variant taC/taT - LOW SNV MT-ND1 protein_coding - - - 1366 m.3520A>G 3520 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3520_A/G homo ENSG00000198888 missense_variant Atc/Gtc - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.12) benign(0.006) - 1367 m.3523A>G 3523 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_3523_A/G homo ENSG00000198888 missense_variant Acc/Gcc - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.32) benign(0.009) - 1368 m.3526G>A 3526 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3526_G/A heter ENSG00000198888 missense_variant Gcc/Acc COSV62293660 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.45) possibly_damaging(0.797) - 1369 m.3528C>T 3528 C T 29 0.003991192 0 0.000000000 7266 0.003991192 MT_3528_C/T homo ENSG00000198888 synonymous_variant gcC/gcT - LOW SNV MT-ND1 protein_coding - - - 1370 m.3531G>A 3531 G A 28 0.003853565 2 0.000275255 7266 0.004128819 MT_3531_G/A homo&heter ENSG00000198888 synonymous_variant ccG/ccA rs368608393,COSV62293206 LOW SNV MT-ND1 protein_coding - - - 1371 m.3533C>T 3533 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3533_C/T homo ENSG00000198888 missense_variant aCc/aTc rs377091327 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.54) benign(0.013) - 1372 m.3535T>C 3535 T C 11 0.001513900 0 0.000000000 7266 0.001513900 MT_3535_T/C homo ENSG00000198888 synonymous_variant Tta/Cta COSV62293145 LOW SNV MT-ND1 protein_coding - - - 1373 m.3537A>G 3537 A G 155 0.021332232 0 0.000000000 7266 0.021332232 MT_3537_A/G homo ENSG00000198888 synonymous_variant ttA/ttG rs386828911 LOW SNV MT-ND1 protein_coding - - - 1374 m.3538G>A 3538 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3538_G/A heter ENSG00000198888 missense_variant Gct/Act COSV62293320 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1375 m.3540T>C 3540 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_3540_T/C homo ENSG00000198888 synonymous_variant gcT/gcC - LOW SNV MT-ND1 protein_coding - - - 1376 m.3543C>T 3543 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_3543_C/T homo ENSG00000198888 synonymous_variant ctC/ctT - LOW SNV MT-ND1 protein_coding - - - 1377 m.3546C>T 3546 C T 13 0.001789155 0 0.000000000 7266 0.001789155 MT_3546_C/T homo ENSG00000198888 synonymous_variant acC/acT rs1556422747 LOW SNV MT-ND1 protein_coding - - - 1378 m.3547A>G 3547 A G 141 0.019405450 0 0.000000000 7266 0.019405450 MT_3547_A/G homo ENSG00000198888 missense_variant Atc/Gtc rs28358586 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.02) benign(0.031) - 1379 m.3548T>C 3548 T C 7 0.000963391 1 0.000137627 7266 0.001101018 MT_3548_T/C homo&heter ENSG00000198888 missense_variant aTc/aCc rs876661353 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) benign(0.052) uncertain_significance,benign 1380 m.3550G>A 3550 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3550_G/A heter ENSG00000198888 missense_variant Gct/Act - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) benign(0.125) - 1381 m.3551C>T 3551 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3551_C/T heter ENSG00000198888 missense_variant gCt/gTt - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) possibly_damaging(0.801) - 1382 m.3552T>A 3552 T A 241 0.033168181 0 0.000000000 7266 0.033168181 MT_3552_T/A homo ENSG00000198888 synonymous_variant gcT/gcA rs28358587,COSV62294158 LOW SNV MT-ND1 protein_coding - - - 1383 m.3552T>C 3552 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3552_T/C homo ENSG00000198888 synonymous_variant gcT/gcC rs28358587,COSV62294158 LOW SNV MT-ND1 protein_coding - - - 1384 m.3555T>C 3555 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_3555_T/C homo&heter ENSG00000198888 synonymous_variant ctT/ctC - LOW SNV MT-ND1 protein_coding - - - 1385 m.3559C>T 3559 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3559_C/T homo ENSG00000198888 synonymous_variant Cta/Tta rs1556422750 LOW SNV MT-ND1 protein_coding - - - 1386 m.3564A>G 3564 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_3564_A/G homo ENSG00000198888 synonymous_variant tgA/tgG - LOW SNV MT-ND1 protein_coding - - - 1387 m.3565A>AC 3565 A AC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3566_-/C heter ENSG00000198888 frameshift_variant acc/aCcc - HIGH insertion MT-ND1 protein_coding - - - 1388 m.3565A>G 3565 A G 6 0.000825764 2 0.000275255 7266 0.001101018 MT_3565_A/G homo&heter ENSG00000198888 missense_variant Acc/Gcc rs2854133 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.82) benign(0.006) - 1389 m.3570C>T 3570 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3570_C/T homo ENSG00000198888 synonymous_variant ccC/ccT - LOW SNV MT-ND1 protein_coding - - - 1390 m.3571C>T 3571 C T 71 0.009771539 0 0.000000000 7266 0.009771539 MT_3571_C/T homo ENSG00000198888 missense_variant Ctc/Ttc rs200453691 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.954) - 1391 m.3573C>T 3573 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3573_C/T homo ENSG00000198888 synonymous_variant ctC/ctT - LOW SNV MT-ND1 protein_coding - - - 1392 m.3579A>G 3579 A G 13 0.001789155 0 0.000000000 7266 0.001789155 MT_3579_A/G homo ENSG00000198888 synonymous_variant atA/atG rs1556422752 LOW SNV MT-ND1 protein_coding - - - 1393 m.3584A>G 3584 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3584_A/G heter ENSG00000198888 missense_variant aAc/aGc - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.12) benign(0.009) - 1394 m.3588C>T 3588 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3588_C/T homo ENSG00000198888 synonymous_variant ccC/ccT rs370821352 LOW SNV MT-ND1 protein_coding - - - 1395 m.3589C>T 3589 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3589_C/T homo ENSG00000198888 synonymous_variant Ctg/Ttg rs386828914 LOW SNV MT-ND1 protein_coding - - - 1396 m.3591G>A 3591 G A 42 0.005780347 3 0.000412882 7266 0.006193229 MT_3591_G/A homo&heter ENSG00000198888 synonymous_variant ctG/ctA rs1556422757,COSV62294401 LOW SNV MT-ND1 protein_coding - - - 1397 m.3593T>C 3593 T C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_3593_T/C homo ENSG00000198888 missense_variant gTc/gCc rs2854134 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.59) benign(0.009) - 1398 m.3594C>T 3594 C T 560 0.077071291 0 0.000000000 7266 0.077071291 MT_3594_C/T homo ENSG00000198888 synonymous_variant gtC/gtT rs193303025 LOW SNV MT-ND1 protein_coding - - - 1399 m.3597C>T 3597 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3597_C/T homo ENSG00000198888 synonymous_variant aaC/aaT - LOW SNV MT-ND1 protein_coding - - - 1400 m.3600C>T 3600 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3600_C/T homo ENSG00000198888 synonymous_variant ctC/ctT - LOW SNV MT-ND1 protein_coding - - - 1401 m.3602A>G 3602 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3602_A/G heter ENSG00000198888 missense_variant aAc/aGc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.999) - 1402 m.3603C>T 3603 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_3603_C/T homo ENSG00000198888 synonymous_variant aaC/aaT - LOW SNV MT-ND1 protein_coding - - - 1403 m.3606A>C 3606 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3606_A/C homo ENSG00000198888 synonymous_variant ctA/ctC - LOW SNV MT-ND1 protein_coding - - - 1404 m.3606A>G 3606 A G 31 0.004266446 0 0.000000000 7266 0.004266446 MT_3606_A/G homo ENSG00000198888 synonymous_variant ctA/ctG rs28658110 LOW SNV MT-ND1 protein_coding - - - 1405 m.3608G>A 3608 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3608_G/A heter ENSG00000198888 missense_variant gGc/gAc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.987) - 1406 m.3609C>T 3609 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3609_C/T homo ENSG00000198888 synonymous_variant ggC/ggT COSV62293156 LOW SNV MT-ND1 protein_coding - - - 1407 m.3612C>T 3612 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3612_C/T homo ENSG00000198888 synonymous_variant ctC/ctT - LOW SNV MT-ND1 protein_coding - - - 1408 m.3613C>T 3613 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3613_C/T homo ENSG00000198888 synonymous_variant Cta/Tta - LOW SNV MT-ND1 protein_coding - - - 1409 m.3615A>G 3615 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3615_A/G homo ENSG00000198888 synonymous_variant ctA/ctG - LOW SNV MT-ND1 protein_coding - - - 1410 m.3616T>C 3616 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3616_T/C heter ENSG00000198888 missense_variant Ttt/Ctt - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.997) - 1411 m.3618T>C 3618 T C 12 0.001651528 1 0.000137627 7266 0.001789155 MT_3618_T/C homo&heter ENSG00000198888 synonymous_variant ttT/ttC - LOW SNV MT-ND1 protein_coding - - - 1412 m.3620T>C 3620 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3620_T/C heter ENSG00000198888 missense_variant aTt/aCt - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.02) benign(0.052) - 1413 m.3621T>C 3621 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_3621_T/C homo ENSG00000198888 synonymous_variant atT/atC rs879186900 LOW SNV MT-ND1 protein_coding - - - 1414 m.3624A>G 3624 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3624_A/G homo ENSG00000198888 synonymous_variant ctA/ctG rs1057516058 LOW SNV MT-ND1 protein_coding - - uncertain_significance 1415 m.3628A>G 3628 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3628_A/G heter ENSG00000198888 missense_variant Acc/Gcc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.02) benign(0.006) - 1416 m.3628A>T 3628 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3628_A/T heter ENSG00000198888 missense_variant Acc/Tcc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) benign(0.022) - 1417 m.3630C>T 3630 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_3630_C/T homo ENSG00000198888 synonymous_variant acC/acT - LOW SNV MT-ND1 protein_coding - - - 1418 m.3631T>C 3631 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3631_T/C heter ENSG00000198888 missense_variant Tct/Cct - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.975) - 1419 m.3633T>C 3633 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_3633_T/C homo&heter ENSG00000198888 synonymous_variant tcT/tcC - LOW SNV MT-ND1 protein_coding - - - 1420 m.3636C>T 3636 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3636_C/T homo ENSG00000198888 synonymous_variant agC/agT - LOW SNV MT-ND1 protein_coding - - - 1421 m.3637C>T 3637 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3637_C/T homo ENSG00000198888 synonymous_variant Cta/Tta rs878946223 LOW SNV MT-ND1 protein_coding - - - 1422 m.3639A>G 3639 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3639_A/G homo ENSG00000198888 synonymous_variant ctA/ctG - LOW SNV MT-ND1 protein_coding - - - 1423 m.3640G>A 3640 G A 2 0.000275255 2 0.000275255 7266 0.000550509 MT_3640_G/A homo&heter ENSG00000198888 missense_variant Gcc/Acc - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.25) benign(0.019) - 1424 m.3643G>A 3643 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3643_G/A heter ENSG00000198888 missense_variant Gtt/Att COSV62293181 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) possibly_damaging(0.798) - 1425 m.3644T>C 3644 T C 35 0.004816956 1 0.000137627 7266 0.004954583 MT_3644_T/C homo&heter ENSG00000198888 missense_variant gTt/gCt rs878991470 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.02) benign(0.111) - 1426 m.3645T>C 3645 T C 7 0.000963391 1 0.000137627 7266 0.001101018 MT_3645_T/C homo&heter ENSG00000198888 synonymous_variant gtT/gtC rs879239695 LOW SNV MT-ND1 protein_coding - - - 1427 m.3646T>C 3646 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3646_T/C heter ENSG00000198888 missense_variant Tac/Cac rs879122447 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.03) benign(0.078) - 1428 m.3648C>T 3648 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3648_C/T homo ENSG00000198888 synonymous_variant taC/taT COSV62294164 LOW SNV MT-ND1 protein_coding - - - 1429 m.3652A>G 3652 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3652_A/G homo ENSG00000198888 missense_variant Atc/Gtc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.03) benign(0.436) - 1430 m.3653T>A 3653 T A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3653_T/A heter ENSG00000198888 missense_variant aTc/aAc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) possibly_damaging(0.904) - 1431 m.3653T>C 3653 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3653_T/C heter ENSG00000198888 missense_variant aTc/aCc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.03) benign(0.054) - 1432 m.3654C>T 3654 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3654_C/T homo ENSG00000198888 synonymous_variant atC/atT - LOW SNV MT-ND1 protein_coding - - - 1433 m.3663A>G 3663 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3663_A/G homo ENSG00000198888 synonymous_variant tcA/tcG - LOW SNV MT-ND1 protein_coding - - - 1434 m.3666G>A 3666 G A 190 0.026149188 0 0.000000000 7266 0.026149188 MT_3666_G/A homo ENSG00000198888 synonymous_variant ggG/ggA rs28357968 LOW SNV MT-ND1 protein_coding - - - 1435 m.3666G>C 3666 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3666_G/C homo ENSG00000198888 synonymous_variant ggG/ggC - LOW SNV MT-ND1 protein_coding - - - 1436 m.3669A>G 3669 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3669_A/G homo ENSG00000198888 synonymous_variant tgA/tgG rs386828918 LOW SNV MT-ND1 protein_coding - - - 1437 m.3672A>G 3672 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_3672_A/G homo ENSG00000198888 synonymous_variant gcA/gcG rs1556422764 LOW SNV MT-ND1 protein_coding - - - 1438 m.3675A>T 3675 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3675_A/T homo ENSG00000198888 synonymous_variant tcA/tcT - LOW SNV MT-ND1 protein_coding - - - 1439 m.3687C>T 3687 C T 12 0.001651528 0 0.000000000 7266 0.001651528 MT_3687_C/T homo ENSG00000198888 synonymous_variant taC/taT - LOW SNV MT-ND1 protein_coding - - - 1440 m.3690C>T 3690 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3690_C/T homo ENSG00000198888 synonymous_variant gcC/gcT rs1556422767 LOW SNV MT-ND1 protein_coding - - - 1441 m.3693G>A 3693 G A 132 0.018166804 0 0.000000000 7266 0.018166804 MT_3693_G/A homo ENSG00000198888 synonymous_variant ctG/ctA rs193303027 LOW SNV MT-ND1 protein_coding - - - 1442 m.3699C>G 3699 C G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_3699_C/G homo ENSG00000198888 synonymous_variant ggC/ggG rs1556422771 LOW SNV MT-ND1 protein_coding - - - 1443 m.3700G>A 3700 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3700_G/A heter ENSG00000198888 missense_variant Gca/Aca rs397515508 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) benign(0.123) pathogenic 1444 m.3702A>T 3702 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3702_A/T homo ENSG00000198888 synonymous_variant gcA/gcT - LOW SNV MT-ND1 protein_coding - - - 1445 m.3703C>T 3703 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_3703_C/T homo ENSG00000198888 synonymous_variant Ctg/Ttg - LOW SNV MT-ND1 protein_coding - - - 1446 m.3705G>A 3705 G A 22 0.003027801 0 0.000000000 7266 0.003027801 MT_3705_G/A homo ENSG00000198888 synonymous_variant ctG/ctA rs386420007 LOW SNV MT-ND1 protein_coding - - - 1447 m.3709G>A 3709 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3709_G/A heter ENSG00000198888 missense_variant Gca/Aca - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1448 m.3712G>A 3712 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3712_G/A heter ENSG00000198888 missense_variant Gta/Ata - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1449 m.3714A>G 3714 A G 31 0.004266446 2 0.000275255 7266 0.004541701 MT_3714_A/G homo&heter ENSG00000198888 synonymous_variant gtA/gtG rs386828920 LOW SNV MT-ND1 protein_coding - - - 1450 m.3715G>A 3715 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3715_G/A heter ENSG00000198888 missense_variant Gcc/Acc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1451 m.3715G>C 3715 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3715_G/C heter ENSG00000198888 missense_variant Gcc/Ccc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1452 m.3717C>T 3717 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3717_C/T homo ENSG00000198888 synonymous_variant gcC/gcT - LOW SNV MT-ND1 protein_coding - - - 1453 m.3720A>G 3720 A G 14 0.001926782 0 0.000000000 7266 0.001926782 MT_3720_A/G homo ENSG00000198888 synonymous_variant caA/caG rs41355750 LOW SNV MT-ND1 protein_coding - - - 1454 m.3721A>G 3721 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_3721_A/G homo&heter ENSG00000198888 missense_variant Aca/Gca rs878927280 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) possibly_damaging(0.753) - 1455 m.3723A>T 3723 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3723_A/T heter ENSG00000198888 synonymous_variant acA/acT - LOW SNV MT-ND1 protein_coding - - - 1456 m.3729A>C 3729 A C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3729_A/C homo ENSG00000198888 synonymous_variant tcA/tcC - LOW SNV MT-ND1 protein_coding - - - 1457 m.3729A>G 3729 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_3729_A/G homo ENSG00000198888 synonymous_variant tcA/tcG - LOW SNV MT-ND1 protein_coding - - - 1458 m.3732T>C 3732 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3732_T/C homo ENSG00000198888 synonymous_variant taT/taC rs28520658,COSV62293265 LOW SNV MT-ND1 protein_coding - - - 1459 m.3733G>C 3733 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3733_G/C heter ENSG00000198888 missense_variant Gaa/Caa - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.963) - 1460 m.3735A>G 3735 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3735_A/G homo ENSG00000198888 synonymous_variant gaA/gaG - LOW SNV MT-ND1 protein_coding - - - 1461 m.3736G>A 3736 G A 21 0.002890173 1 0.000137627 7266 0.003027801 MT_3736_G/A homo&heter ENSG00000198888 missense_variant Gtc/Atc rs201513497,COSV62294071 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.04) benign(0.033) - 1462 m.3737T>C 3737 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3737_T/C heter ENSG00000198888 missense_variant gTc/gCc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) benign(0.434) - 1463 m.3738C>T 3738 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_3738_C/T homo ENSG00000198888 synonymous_variant gtC/gtT rs879082742 LOW SNV MT-ND1 protein_coding - - - 1464 m.3741C>T 3741 C T 19 0.002614919 0 0.000000000 7266 0.002614919 MT_3741_C/T homo ENSG00000198888 synonymous_variant acC/acT rs878907222 LOW SNV MT-ND1 protein_coding - - - 1465 m.3744A>G 3744 A G 22 0.003027801 0 0.000000000 7266 0.003027801 MT_3744_A/G homo ENSG00000198888 synonymous_variant ctA/ctG - LOW SNV MT-ND1 protein_coding - - - 1466 m.3745G>A 3745 G A 12 0.001651528 2 0.000275255 7266 0.001926782 MT_3745_G/A homo&heter ENSG00000198888 missense_variant Gcc/Acc rs1556422777 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.05) benign(0.043) - 1467 m.3746C>T 3746 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_3746_C/T homo ENSG00000198888 missense_variant gCc/gTc rs199684756 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) benign(0.071) - 1468 m.3750C>T 3750 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3750_C/T homo ENSG00000198888 synonymous_variant atC/atT rs878944160 LOW SNV MT-ND1 protein_coding - - - 1469 m.3753T>C 3753 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_3753_T/C homo ENSG00000198888 synonymous_variant atT/atC rs878978578 LOW SNV MT-ND1 protein_coding - - - 1470 m.3754C>T 3754 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3754_C/T homo ENSG00000198888 synonymous_variant Cta/Tta - LOW SNV MT-ND1 protein_coding - - - 1471 m.3759A>G 3759 A G 33 0.004541701 0 0.000000000 7266 0.004541701 MT_3759_A/G homo ENSG00000198888 synonymous_variant ctA/ctG - LOW SNV MT-ND1 protein_coding - - - 1472 m.3763A>G 3763 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_3763_A/G homo&heter ENSG00000198888 missense_variant Aca/Gca - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.18) benign(0.105) - 1473 m.3764C>T 3764 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_3764_C/T homo&heter ENSG00000198888 missense_variant aCa/aTa - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.27) benign(0.402) - 1474 m.3765A>G 3765 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3765_A/G homo ENSG00000198888 synonymous_variant acA/acG COSV62293301 LOW SNV MT-ND1 protein_coding - - - 1475 m.3766T>C 3766 T C 1 0.000137627 2 0.000275255 7266 0.000412882 MT_3766_T/C homo&heter ENSG00000198888 synonymous_variant Tta/Cta COSV62293575 LOW SNV MT-ND1 protein_coding - - - 1476 m.3768A>G 3768 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3768_A/G homo ENSG00000198888 synonymous_variant ttA/ttG rs1556422779 LOW SNV MT-ND1 protein_coding - - - 1477 m.3770T>C 3770 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3770_T/C heter ENSG00000198888 missense_variant cTa/cCa - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.992) - 1478 m.3771A>G 3771 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3771_A/G homo ENSG00000198888 synonymous_variant ctA/ctG - LOW SNV MT-ND1 protein_coding - - - 1479 m.3776G>A 3776 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3776_G/A homo ENSG00000198888 missense_variant aGt/aAt - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.61) benign(0.027) - 1480 m.3777T>C 3777 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_3777_T/C homo ENSG00000198888 synonymous_variant agT/agC rs386828921 LOW SNV MT-ND1 protein_coding - - - 1481 m.3780C>T 3780 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_3780_C/T homo ENSG00000198888 synonymous_variant ggC/ggT rs386828922 LOW SNV MT-ND1 protein_coding - - - 1482 m.3781T>C 3781 T C 1 0.000137627 2 0.000275255 7266 0.000412882 MT_3781_T/C homo&heter ENSG00000198888 missense_variant Tcc/Ccc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.999) - 1483 m.3783C>A 3783 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3783_C/A homo ENSG00000198888 synonymous_variant tcC/tcA - LOW SNV MT-ND1 protein_coding - - - 1484 m.3783C>T 3783 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3783_C/T homo ENSG00000198888 synonymous_variant tcC/tcT - LOW SNV MT-ND1 protein_coding - - - 1485 m.3784T>C 3784 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3784_T/C heter ENSG00000198888 missense_variant Ttt/Ctt - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) possibly_damaging(0.736) - 1486 m.3786T>C 3786 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3786_T/C homo ENSG00000198888 synonymous_variant ttT/ttC - LOW SNV MT-ND1 protein_coding - - - 1487 m.3789C>T 3789 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_3789_C/T homo ENSG00000198888 synonymous_variant aaC/aaT - LOW SNV MT-ND1 protein_coding - - - 1488 m.3793T>C 3793 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3793_T/C heter ENSG00000198888 missense_variant Tcc/Ccc - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.06) possibly_damaging(0.522) - 1489 m.3796A>G 3796 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_3796_A/G homo ENSG00000198888 missense_variant Acc/Gcc rs28357970 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.07) benign(0.013) pathogenic,benign 1490 m.3796A>T 3796 A T 22 0.003027801 0 0.000000000 7266 0.003027801 MT_3796_A/T homo ENSG00000198888 missense_variant Acc/Tcc rs28357970 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.2) benign(0.022) benign,likely_benign 1491 m.3798C>A 3798 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3798_C/A homo ENSG00000198888 synonymous_variant acC/acA - LOW SNV MT-ND1 protein_coding - - - 1492 m.3798C>T 3798 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3798_C/T homo ENSG00000198888 synonymous_variant acC/acT - LOW SNV MT-ND1 protein_coding - - - 1493 m.3802A>G 3802 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3802_A/G homo ENSG00000198888 missense_variant Atc/Gtc - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.51) possibly_damaging(0.772) - 1494 m.3804C>T 3804 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3804_C/T homo ENSG00000198888 synonymous_variant atC/atT - LOW SNV MT-ND1 protein_coding - - - 1495 m.3808A>G 3808 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3808_A/G homo ENSG00000198888 missense_variant Aca/Gca rs2854135 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.22) benign(0.078) - 1496 m.3816A>G 3816 A G 15 0.002064410 0 0.000000000 7266 0.002064410 MT_3816_A/G homo ENSG00000198888 synonymous_variant gaA/gaG rs386828924 LOW SNV MT-ND1 protein_coding - - - 1497 m.3819C>T 3819 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3819_C/T homo ENSG00000198888 synonymous_variant caC/caT rs373466146 LOW SNV MT-ND1 protein_coding - - - 1498 m.3821T>C 3821 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3821_T/C heter ENSG00000198888 missense_variant cTc/cCc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) possibly_damaging(0.566) - 1499 m.3825A>G 3825 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3825_A/G homo ENSG00000198888 synonymous_variant tgA/tgG - LOW SNV MT-ND1 protein_coding - - - 1500 m.3826T>C 3826 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_3826_T/C homo ENSG00000198888 synonymous_variant Tta/Cta rs878967335 LOW SNV MT-ND1 protein_coding - - - 1501 m.3828A>G 3828 A G 12 0.001651528 1 0.000137627 7266 0.001789155 MT_3828_A/G homo&heter ENSG00000198888 synonymous_variant ttA/ttG - LOW SNV MT-ND1 protein_coding - - - 1502 m.3834G>A 3834 G A 76 0.010459675 1 0.000137627 7266 0.010597303 MT_3834_G/A homo&heter ENSG00000198888 synonymous_variant ctG/ctA rs372080842,COSV62293071 LOW SNV MT-ND1 protein_coding - - - 1503 m.3842G>A 3842 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3842_G/A heter ENSG00000198888 stop_gained tGa/tAa COSV62293567 HIGH SNV MT-ND1 protein_coding - - - 1504 m.3843A>G 3843 A G 20 0.002752546 0 0.000000000 7266 0.002752546 MT_3843_A/G homo ENSG00000198888 synonymous_variant tgA/tgG rs28357971 LOW SNV MT-ND1 protein_coding - - likely_benign 1505 m.3846C>T 3846 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3846_C/T homo ENSG00000198888 synonymous_variant ccC/ccT - LOW SNV MT-ND1 protein_coding - - - 1506 m.3847T>C 3847 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_3847_T/C homo ENSG00000198888 synonymous_variant Ttg/Ctg rs878887783 LOW SNV MT-ND1 protein_coding - - - 1507 m.3849G>A 3849 G A 24 0.003303055 1 0.000137627 7266 0.003440683 MT_3849_G/A homo&heter ENSG00000198888 synonymous_variant ttG/ttA rs878853081 LOW SNV MT-ND1 protein_coding - - benign/likely_benign 1508 m.3852C>T 3852 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_3852_C/T homo ENSG00000198888 synonymous_variant gcC/gcT rs1556422786 LOW SNV MT-ND1 protein_coding - - - 1509 m.3858A>G 3858 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3858_A/G homo ENSG00000198888 synonymous_variant atA/atG - LOW SNV MT-ND1 protein_coding - - - 1510 m.3861A>G 3861 A G 11 0.001513900 0 0.000000000 7266 0.001513900 MT_3861_A/G homo ENSG00000198888 synonymous_variant tgA/tgG rs1556422787,COSV62294129 LOW SNV MT-ND1 protein_coding - - - 1511 m.3863T>C 3863 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3863_T/C heter ENSG00000198888 missense_variant tTt/tCt COSV62293742 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) possibly_damaging(0.872) - 1512 m.3864T>C 3864 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3864_T/C homo ENSG00000198888 synonymous_variant ttT/ttC - LOW SNV MT-ND1 protein_coding - - - 1513 m.3865A>G 3865 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_3865_A/G homo ENSG00000198888 missense_variant Atc/Gtc rs878989562 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.22) benign(0.009) - 1514 m.3866T>C 3866 T C 61 0.008395266 0 0.000000000 7266 0.008395266 MT_3866_T/C homo ENSG00000198888 missense_variant aTc/aCc rs200479541 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.13) benign(0.021) - 1515 m.3867C>T 3867 C T 5 0.000688137 1 0.000137627 7266 0.000825764 MT_3867_C/T homo&heter ENSG00000198888 synonymous_variant atC/atT - LOW SNV MT-ND1 protein_coding - - - 1516 m.3870C>T 3870 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3870_C/T homo ENSG00000198888 synonymous_variant tcC/tcT - LOW SNV MT-ND1 protein_coding - - - 1517 m.3873A>C 3873 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3873_A/C homo ENSG00000198888 synonymous_variant acA/acC - LOW SNV MT-ND1 protein_coding - - - 1518 m.3873A>G 3873 A G 6 0.000825764 1 0.000137627 7266 0.000963391 MT_3873_A/G homo&heter ENSG00000198888 synonymous_variant acA/acG rs386828925 LOW SNV MT-ND1 protein_coding - - - 1519 m.3874C>T 3874 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3874_C/T homo ENSG00000198888 synonymous_variant Cta/Tta - LOW SNV MT-ND1 protein_coding - - - 1520 m.3879A>G 3879 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3879_A/G homo ENSG00000198888 synonymous_variant gcA/gcG - LOW SNV MT-ND1 protein_coding - - - 1521 m.3879A>T 3879 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3879_A/T homo ENSG00000198888 synonymous_variant gcA/gcT - LOW SNV MT-ND1 protein_coding - - - 1522 m.3880G>A 3880 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3880_G/A heter ENSG00000198888 missense_variant Gag/Aag - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 1523 m.3882G>A 3882 G A 71 0.009771539 2 0.000275255 7266 0.010046793 MT_3882_G/A homo&heter ENSG00000198888 synonymous_variant gaG/gaA rs368898108,COSV62294139 LOW SNV MT-ND1 protein_coding - - - 1524 m.3885C>T 3885 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3885_C/T heter ENSG00000198888 synonymous_variant acC/acT COSV62293247 LOW SNV MT-ND1 protein_coding - - - 1525 m.3887A>G 3887 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3887_A/G heter ENSG00000198888 missense_variant aAc/aGc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 1526 m.3890G>A 3890 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3890_G/A heter ENSG00000198888 missense_variant cGa/cAa rs587776434 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) pathogenic 1527 m.3891A>G 3891 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3891_A/G homo ENSG00000198888 synonymous_variant cgA/cgG - LOW SNV MT-ND1 protein_coding - - - 1528 m.3891A>T 3891 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3891_A/T homo ENSG00000198888 synonymous_variant cgA/cgT - LOW SNV MT-ND1 protein_coding - - - 1529 m.3892A>G 3892 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_3892_A/G homo ENSG00000198888 missense_variant Acc/Gcc rs879131781 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(1) benign(0.009) - 1530 m.3894C>T 3894 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3894_C/T homo ENSG00000198888 synonymous_variant acC/acT - LOW SNV MT-ND1 protein_coding - - - 1531 m.3897C>T 3897 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3897_C/T homo ENSG00000198888 synonymous_variant ccC/ccT - LOW SNV MT-ND1 protein_coding - - - 1532 m.3900C>T 3900 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3900_C/T homo ENSG00000198888 synonymous_variant ttC/ttT - LOW SNV MT-ND1 protein_coding - - - 1533 m.3901G>A 3901 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3901_G/A heter ENSG00000198888 missense_variant Gac/Aac - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1534 m.3908C>T 3908 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3908_C/T heter ENSG00000198888 missense_variant gCc/gTc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) benign(0.003) - 1535 m.3912A>G 3912 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_3912_A/G homo ENSG00000198888 synonymous_variant gaA/gaG - LOW SNV MT-ND1 protein_coding - - - 1536 m.3915G>A 3915 G A 46 0.006330856 4 0.000550509 7266 0.006881365 MT_3915_G/A homo&heter ENSG00000198888 synonymous_variant ggG/ggA rs41524046,COSV62293499 LOW SNV MT-ND1 protein_coding - - - 1537 m.3917A>G 3917 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3917_A/G heter ENSG00000198888 missense_variant gAg/gGg - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 1538 m.3918G>A 3918 G A 106 0.014588494 2 0.000275255 7266 0.014863749 MT_3918_G/A homo&heter ENSG00000198888 synonymous_variant gaG/gaA rs28357972 LOW SNV MT-ND1 protein_coding - - - 1539 m.3921C>A 3921 C A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3921_C/A homo ENSG00000198888 synonymous_variant tcC/tcA - LOW SNV MT-ND1 protein_coding - - - 1540 m.3921C>T 3921 C T 45 0.006193229 0 0.000000000 7266 0.006193229 MT_3921_C/T homo ENSG00000198888 synonymous_variant tcC/tcT rs878999809 LOW SNV MT-ND1 protein_coding - - - 1541 m.3927A>G 3927 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_3927_A/G homo ENSG00000198888 synonymous_variant ctA/ctG rs28647453 LOW SNV MT-ND1 protein_coding - - - 1542 m.3928G>A 3928 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3928_G/A heter ENSG00000198888 missense_variant Gtc/Atc COSV62294113 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) benign(0.12) - 1543 m.3930C>T 3930 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3930_C/T homo ENSG00000198888 synonymous_variant gtC/gtT - LOW SNV MT-ND1 protein_coding - - - 1544 m.3933A>G 3933 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3933_A/G homo ENSG00000198888 synonymous_variant tcA/tcG - LOW SNV MT-ND1 protein_coding - - - 1545 m.3935G>A 3935 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3935_G/A heter ENSG00000198888 missense_variant gGc/gAc COSV62294332 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1546 m.3936C>T 3936 C T 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3936_C/T heter ENSG00000198888 synonymous_variant ggC/ggT - LOW SNV MT-ND1 protein_coding - - - 1547 m.3943A>G 3943 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_3943_A/G homo ENSG00000198888 missense_variant Atc/Gtc rs879176055 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(1) benign(0.001) - 1548 m.3945C>T 3945 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_3945_C/T homo ENSG00000198888 synonymous_variant atC/atT rs1569483905 LOW SNV MT-ND1 protein_coding - - - 1549 m.3946G>A 3946 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3946_G/A heter ENSG00000198888 missense_variant Gaa/Aaa rs199476123,COSV62293794 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) pathogenic 1550 m.3948A>G 3948 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3948_A/G homo ENSG00000198888 synonymous_variant gaA/gaG rs1569483906 LOW SNV MT-ND1 protein_coding - - - 1551 m.3954C>T 3954 C T 12 0.001651528 0 0.000000000 7266 0.001651528 MT_3954_C/T homo ENSG00000198888 synonymous_variant gcC/gcT rs879044224 LOW SNV MT-ND1 protein_coding - - - 1552 m.3957A>G 3957 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3957_A/G homo ENSG00000198888 synonymous_variant gcA/gcG - LOW SNV MT-ND1 protein_coding - - - 1553 m.3958G>A 3958 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3958_G/A heter ENSG00000198888 missense_variant Ggc/Agc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) probably_damaging(1) - 1554 m.3960C>T 3960 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3960_C/T homo ENSG00000198888 synonymous_variant ggC/ggT - LOW SNV MT-ND1 protein_coding - - - 1555 m.3963C>T 3963 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_3963_C/T homo ENSG00000198888 synonymous_variant ccC/ccT - LOW SNV MT-ND1 protein_coding - - - 1556 m.3966C>T 3966 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3966_C/T homo ENSG00000198888 synonymous_variant ttC/ttT - LOW SNV MT-ND1 protein_coding - - - 1557 m.3969C>T 3969 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3969_C/T homo ENSG00000198888 synonymous_variant gcC/gcT - LOW SNV MT-ND1 protein_coding - - - 1558 m.3970C>T 3970 C T 799 0.109964217 0 0.000000000 7266 0.109964217 MT_3970_C/T homo ENSG00000198888 synonymous_variant Cta/Tta rs9629042 LOW SNV MT-ND1 protein_coding - - - 1559 m.3972A>G 3972 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3972_A/G homo ENSG00000198888 synonymous_variant ctA/ctG rs28441014 LOW SNV MT-ND1 protein_coding - - - 1560 m.3974T>C 3974 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_3974_T/C heter ENSG00000198888 missense_variant tTc/tCc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) possibly_damaging(0.706) - 1561 m.3981A>G 3981 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3981_A/G homo ENSG00000198888 synonymous_variant atA/atG - LOW SNV MT-ND1 protein_coding - - - 1562 m.3987A>G 3987 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_3987_A/G homo ENSG00000198888 synonymous_variant gaA/gaG - LOW SNV MT-ND1 protein_coding - - - 1563 m.3988T>C 3988 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_3988_T/C heter ENSG00000198888 missense_variant Tac/Cac - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1564 m.3990C>T 3990 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_3990_C/T homo ENSG00000198888 synonymous_variant taC/taT rs878853005 LOW SNV MT-ND1 protein_coding - - benign 1565 m.3992C>T 3992 C T 15 0.002064410 0 0.000000000 7266 0.002064410 MT_3992_C/T homo ENSG00000198888 missense_variant aCa/aTa rs879051705 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.18) benign(0.007) - 1566 m.3995A>G 3995 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_3995_A/G homo ENSG00000198888 missense_variant aAc/aGc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) benign(0.268) - 1567 m.3996C>T 3996 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_3996_C/T homo ENSG00000198888 synonymous_variant aaC/aaT - LOW SNV MT-ND1 protein_coding - - - 1568 m.4001T>C 4001 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4001_T/C heter ENSG00000198888 missense_variant aTt/aCt - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) possibly_damaging(0.851) - 1569 m.4002T>C 4002 T C 2 0.000275255 2 0.000275255 7266 0.000550509 MT_4002_T/C homo&heter ENSG00000198888 synonymous_variant atT/atC - LOW SNV MT-ND1 protein_coding - - - 1570 m.4006A>G 4006 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4006_A/G heter ENSG00000198888 missense_variant Ata/Gta - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.992) - 1571 m.4008A>G 4008 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4008_A/G homo ENSG00000198888 synonymous_variant atA/atG - LOW SNV MT-ND1 protein_coding - - - 1572 m.4010A>G 4010 A G 1 0.000137627 2 0.000275255 7266 0.000412882 MT_4010_A/G homo&heter ENSG00000198888 missense_variant aAc/aGc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.999) - 1573 m.4011C>T 4011 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_4011_C/T homo ENSG00000198888 synonymous_variant aaC/aaT - LOW SNV MT-ND1 protein_coding - - - 1574 m.4012A>G 4012 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_4012_A/G homo ENSG00000198888 missense_variant Acc/Gcc rs201610884 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.54) benign(0.001) - 1575 m.4012ACC>A 4012 ACC A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4013_CC/- heter ENSG00000198888 frameshift_variant aCC/a - HIGH deletion MT-ND1 protein_coding - - - 1576 m.4013C>T 4013 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4013_C/T homo ENSG00000198888 missense_variant aCc/aTc - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.06) benign(0.102) - 1577 m.4014C>T 4014 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4014_C/T homo ENSG00000198888 synonymous_variant acC/acT - LOW SNV MT-ND1 protein_coding - - - 1578 m.4017C>T 4017 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_4017_C/T homo ENSG00000198888 synonymous_variant ctC/ctT rs386828930 LOW SNV MT-ND1 protein_coding - - - 1579 m.4020C>T 4020 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4020_C/T homo ENSG00000198888 synonymous_variant acC/acT - LOW SNV MT-ND1 protein_coding - - - 1580 m.4021A>G 4021 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4021_A/G homo ENSG00000198888 missense_variant Act/Gct rs199771084 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.56) benign(0.001) - 1581 m.4021A>T 4021 A T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4021_A/T homo ENSG00000198888 missense_variant Act/Tct - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.1) benign(0.007) - 1582 m.4023T>C 4023 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4023_T/C homo ENSG00000198888 synonymous_variant acT/acC rs878853034 LOW SNV MT-ND1 protein_coding - - likely_benign 1583 m.4024A>G 4024 A G 13 0.001789155 0 0.000000000 7266 0.001789155 MT_4024_A/G homo ENSG00000198888 missense_variant Aca/Gca rs41504646 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.04) benign(0.019) - 1584 m.4025C>T 4025 C T 14 0.001926782 1 0.000137627 7266 0.002064410 MT_4025_C/T homo&heter ENSG00000198888 missense_variant aCa/aTa rs397515509 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.05) benign(0.097) pathogenic,benign 1585 m.4029C>A 4029 C A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_4029_C/A homo ENSG00000198888 missense_variant atC/atA - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.05) possibly_damaging(0.869) - 1586 m.4030T>C 4030 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4030_T/C heter ENSG00000198888 missense_variant Ttc/Ctc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.997) - 1587 m.4035A>G 4035 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4035_A/G homo ENSG00000198888 synonymous_variant ctA/ctG - LOW SNV MT-ND1 protein_coding - - - 1588 m.4038A>G 4038 A G 11 0.001513900 0 0.000000000 7266 0.001513900 MT_4038_A/G homo ENSG00000198888 synonymous_variant ggA/ggG - LOW SNV MT-ND1 protein_coding - - - 1589 m.4047T>C 4047 T C 33 0.004541701 0 0.000000000 7266 0.004541701 MT_4047_T/C homo ENSG00000198888 synonymous_variant taT/taC rs879043382 LOW SNV MT-ND1 protein_coding - - - 1590 m.4048G>A 4048 G A 287 0.039499037 2 0.000275255 7266 0.039774291 MT_4048_G/A homo&heter ENSG00000198888 missense_variant Gac/Aac rs201629275 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(1) benign(0) - 1591 m.4048G>C 4048 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4048_G/C homo ENSG00000198888 missense_variant Gac/Cac - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.53) benign(0.199) - 1592 m.4051G>A 4051 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4051_G/A homo ENSG00000198888 missense_variant Gca/Aca - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.23) benign(0) - 1593 m.4052C>T 4052 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4052_C/T homo ENSG00000198888 missense_variant gCa/gTa - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.14) benign(0) - 1594 m.4053A>G 4053 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4053_A/G heter ENSG00000198888 synonymous_variant gcA/gcG - LOW SNV MT-ND1 protein_coding - - - 1595 m.4058C>T 4058 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_4058_C/T homo ENSG00000198888 missense_variant tCc/tTc - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.91) benign(0.005) - 1596 m.4059C>A 4059 C A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4059_C/A homo ENSG00000198888 synonymous_variant tcC/tcA - LOW SNV MT-ND1 protein_coding - - - 1597 m.4059C>T 4059 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4059_C/T homo ENSG00000198888 synonymous_variant tcC/tcT rs1556422807 LOW SNV MT-ND1 protein_coding - - - 1598 m.4062T>C 4062 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_4062_T/C homo ENSG00000198888 synonymous_variant ccT/ccC - LOW SNV MT-ND1 protein_coding - - - 1599 m.4065A>G 4065 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4065_A/G homo ENSG00000198888 synonymous_variant gaA/gaG rs386828932 LOW SNV MT-ND1 protein_coding - - - 1600 m.4067T>C 4067 T C 0 0.000000000 3 0.000412882 7266 0.000412882 MT_4067_T/C heter ENSG00000198888 missense_variant cTc/cCc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) possibly_damaging(0.566) - 1601 m.4068C>T 4068 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4068_C/T homo ENSG00000198888 synonymous_variant ctC/ctT - LOW SNV MT-ND1 protein_coding - - - 1602 m.4069T>C 4069 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4069_T/C heter ENSG00000198888 missense_variant Tac/Cac - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.16) benign(0.031) - 1603 m.4071C>T 4071 C T 377 0.051885494 0 0.000000000 7266 0.051885494 MT_4071_C/T homo ENSG00000198888 synonymous_variant taC/taT rs386828933 LOW SNV MT-ND1 protein_coding - - - 1604 m.4074A>G 4074 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4074_A/G homo ENSG00000198888 synonymous_variant acA/acG - LOW SNV MT-ND1 protein_coding - - - 1605 m.4079A>G 4079 A G 11 0.001513900 0 0.000000000 7266 0.001513900 MT_4079_A/G homo ENSG00000198888 missense_variant tAt/tGt - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.04) benign(0.001) - 1606 m.4080T>C 4080 T C 14 0.001926782 1 0.000137627 7266 0.002064410 MT_4080_T/C homo&heter ENSG00000198888 synonymous_variant taT/taC rs1556422810 LOW SNV MT-ND1 protein_coding - - - 1607 m.4082T>C 4082 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_4082_T/C heter ENSG00000198888 missense_variant tTt/tCt - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.947) - 1608 m.4083T>C 4083 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4083_T/C homo ENSG00000198888 synonymous_variant ttT/ttC - LOW SNV MT-ND1 protein_coding - - - 1609 m.4084G>A 4084 G A 2 0.000275255 1 0.000137627 7266 0.000412882 MT_4084_G/A homo&heter ENSG00000198888 missense_variant Gtc/Atc - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.14) benign(0.009) - 1610 m.4086C>T 4086 C T 280 0.038535645 1 0.000137627 7266 0.038673273 MT_4086_C/T homo&heter ENSG00000198888 synonymous_variant gtC/gtT rs386828934 LOW SNV MT-ND1 protein_coding - - - 1611 m.4089C>T 4089 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4089_C/T homo ENSG00000198888 synonymous_variant acC/acT - LOW SNV MT-ND1 protein_coding - - - 1612 m.4092G>A 4092 G A 31 0.004266446 3 0.000412882 7266 0.004679328 MT_4092_G/A homo&heter ENSG00000198888 synonymous_variant aaG/aaA rs1569483915,COSV62294184 LOW SNV MT-ND1 protein_coding - - - 1613 m.4093A>G 4093 A G 14 0.001926782 0 0.000000000 7266 0.001926782 MT_4093_A/G homo ENSG00000198888 missense_variant Acc/Gcc rs200180511 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.68) benign(0.007) - 1614 m.4095C>T 4095 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4095_C/T homo ENSG00000198888 synonymous_variant acC/acT - LOW SNV MT-ND1 protein_coding - - - 1615 m.4099C>T 4099 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_4099_C/T homo ENSG00000198888 missense_variant Ctt/Ttt - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.07) benign(0.043) - 1616 m.4100T>C 4100 T C 1 0.000137627 2 0.000275255 7266 0.000412882 MT_4100_T/C homo&heter ENSG00000198888 missense_variant cTt/cCt - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.934) - 1617 m.4101T>C 4101 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4101_T/C homo ENSG00000198888 synonymous_variant ctT/ctC - LOW SNV MT-ND1 protein_coding - - - 1618 m.4102C>A 4102 C A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4102_C/A homo ENSG00000198888 missense_variant Cta/Ata - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) probably_damaging(1) - 1619 m.4102C>T 4102 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4102_C/T homo ENSG00000198888 synonymous_variant Cta/Tta - LOW SNV MT-ND1 protein_coding - - - 1620 m.4104A>G 4104 A G 554 0.076245527 0 0.000000000 7266 0.076245527 MT_4104_A/G homo ENSG00000198888 synonymous_variant ctA/ctG rs1117205 LOW SNV MT-ND1 protein_coding - - - 1621 m.4105A>G 4105 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4105_A/G heter ENSG00000198888 missense_variant Acc/Gcc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.05) possibly_damaging(0.502) - 1622 m.4107C>T 4107 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4107_C/T homo ENSG00000198888 synonymous_variant acC/acT rs1556422812 LOW SNV MT-ND1 protein_coding - - - 1623 m.4109C>T 4109 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4109_C/T homo ENSG00000198888 missense_variant tCc/tTc - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.13) possibly_damaging(0.59) - 1624 m.4111C>T 4111 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4111_C/T homo ENSG00000198888 synonymous_variant Ctg/Ttg - LOW SNV MT-ND1 protein_coding - - - 1625 m.4113G>A 4113 G A 41 0.005642720 0 0.000000000 7266 0.005642720 MT_4113_G/A homo ENSG00000198888 synonymous_variant ctG/ctA rs374117905 LOW SNV MT-ND1 protein_coding - - - 1626 m.4113G>C 4113 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4113_G/C homo ENSG00000198888 synonymous_variant ctG/ctC - LOW SNV MT-ND1 protein_coding - - - 1627 m.4116C>T 4116 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4116_C/T homo ENSG00000198888 synonymous_variant ttC/ttT - LOW SNV MT-ND1 protein_coding - - - 1628 m.4117T>C 4117 T C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_4117_T/C homo ENSG00000198888 synonymous_variant Tta/Cta rs1556422815 LOW SNV MT-ND1 protein_coding - - - 1629 m.4118T>C 4118 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4118_T/C heter ENSG00000198888 missense_variant tTa/tCa COSV62294189 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1630 m.4122A>G 4122 A G 44 0.006055601 0 0.000000000 7266 0.006055601 MT_4122_A/G homo ENSG00000198888 synonymous_variant tgA/tgG - LOW SNV MT-ND1 protein_coding - - - 1631 m.4123A>G 4123 A G 43 0.005917974 0 0.000000000 7266 0.005917974 MT_4123_A/G homo ENSG00000198888 missense_variant Att/Gtt rs200764459 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(1) benign(0.009) - 1632 m.4125T>C 4125 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4125_T/C homo ENSG00000198888 synonymous_variant atT/atC - LOW SNV MT-ND1 protein_coding - - - 1633 m.4129A>G 4129 A G 46 0.006330856 0 0.000000000 7266 0.006330856 MT_4129_A/G homo ENSG00000198888 missense_variant Aca/Gca rs201832206 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(1) benign(0.006) - 1634 m.4131A>G 4131 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4131_A/G homo ENSG00000198888 synonymous_variant acA/acG rs1556422817 LOW SNV MT-ND1 protein_coding - - - 1635 m.4135T>C 4135 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_4135_T/C homo&heter ENSG00000198888 missense_variant Tac/Cac rs876661355 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.975) benign,uncertain_significance 1636 m.4136A>G 4136 A G 9 0.001238646 2 0.000275255 7266 0.001513900 MT_4136_A/G homo&heter ENSG00000198888 missense_variant tAc/tGc rs199476121 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.982) benign,pathogenic 1637 m.4137C>T 4137 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_4137_C/T homo ENSG00000198888 synonymous_variant taC/taT rs368539747 LOW SNV MT-ND1 protein_coding - - likely_benign 1638 m.4140C>A 4140 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4140_C/A homo ENSG00000198888 synonymous_variant ccC/ccA - LOW SNV MT-ND1 protein_coding - - - 1639 m.4140C>T 4140 C T 68 0.009358657 0 0.000000000 7266 0.009358657 MT_4140_C/T homo ENSG00000198888 synonymous_variant ccC/ccT - LOW SNV MT-ND1 protein_coding - - - 1640 m.4142G>A 4142 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4142_G/A heter ENSG00000198888 missense_variant cGa/cAa - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.947) - 1641 m.4148G>A 4148 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4148_G/A heter ENSG00000198888 missense_variant cGc/cAc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.951) - 1642 m.4150T>C 4150 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4150_T/C heter ENSG00000198888 missense_variant Tac/Cac - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1643 m.4151A>G 4151 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4151_A/G heter ENSG00000198888 missense_variant tAc/tGc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1644 m.4152C>T 4152 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4152_C/T homo ENSG00000198888 synonymous_variant taC/taT - LOW SNV MT-ND1 protein_coding - - - 1645 m.4153G>A 4153 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_4153_G/A heter ENSG00000198888 missense_variant Gac/Aac rs28566134,COSV62294338 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1646 m.4158A>G 4158 A G 37 0.005092210 1 0.000137627 7266 0.005229838 MT_4158_A/G homo&heter ENSG00000198888 synonymous_variant caA/caG - LOW SNV MT-ND1 protein_coding - - - 1647 m.4160T>C 4160 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4160_T/C heter ENSG00000198888 missense_variant cTc/cCc rs199476119 MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) pathogenic 1648 m.4161C>T 4161 C T 16 0.002202037 0 0.000000000 7266 0.002202037 MT_4161_C/T homo ENSG00000198888 synonymous_variant ctC/ctT - LOW SNV MT-ND1 protein_coding - - - 1649 m.4163T>C 4163 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4163_T/C heter ENSG00000198888 missense_variant aTa/aCa - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 1650 m.4164A>G 4164 A G 256 0.035232590 1 0.000137627 7266 0.035370217 MT_4164_A/G homo&heter ENSG00000198888 synonymous_variant atA/atG rs386420034 LOW SNV MT-ND1 protein_coding - - - 1651 m.4165C>G 4165 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4165_C/G homo ENSG00000198888 missense_variant Cac/Gac - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) possibly_damaging(0.485) - 1652 m.4165C>T 4165 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4165_C/T homo ENSG00000198888 missense_variant Cac/Tac - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.04) benign(0.019) - 1653 m.4167C>T 4167 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_4167_C/T homo ENSG00000198888 synonymous_variant caC/caT - LOW SNV MT-ND1 protein_coding - - - 1654 m.4170C>T 4170 C T 17 0.002339664 0 0.000000000 7266 0.002339664 MT_4170_C/T homo ENSG00000198888 synonymous_variant ctC/ctT - LOW SNV MT-ND1 protein_coding - - - 1655 m.4172T>A 4172 T A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4172_T/A homo ENSG00000198888 missense_variant cTa/cAa - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1656 m.4172T>C 4172 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4172_T/C heter ENSG00000198888 missense_variant cTa/cCa - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 1657 m.4176A>G 4176 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4176_A/G homo ENSG00000198888 synonymous_variant tgA/tgG - LOW SNV MT-ND1 protein_coding - - - 1658 m.4179A>G 4179 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4179_A/G homo ENSG00000198888 synonymous_variant aaA/aaG - LOW SNV MT-ND1 protein_coding - - - 1659 m.4181A>G 4181 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4181_A/G homo ENSG00000198888 missense_variant aAc/aGc - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.09) benign(0.073) - 1660 m.4185C>T 4185 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4185_C/T homo ENSG00000198888 synonymous_variant ttC/ttT - LOW SNV MT-ND1 protein_coding - - - 1661 m.4186C>T 4186 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4186_C/T homo ENSG00000198888 synonymous_variant Cta/Tta - LOW SNV MT-ND1 protein_coding - - - 1662 m.4188A>G 4188 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4188_A/G homo ENSG00000198888 synonymous_variant ctA/ctG rs1556422827 LOW SNV MT-ND1 protein_coding - - - 1663 m.4191A>G 4191 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4191_A/G homo ENSG00000198888 synonymous_variant ccA/ccG - LOW SNV MT-ND1 protein_coding - - - 1664 m.4193T>C 4193 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4193_T/C heter ENSG00000198888 missense_variant cTc/cCc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0) probably_damaging(0.988) - 1665 m.4195A>G 4195 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4195_A/G heter ENSG00000198888 missense_variant Acc/Gcc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.04) probably_damaging(0.999) - 1666 m.4198C>T 4198 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4198_C/T homo ENSG00000198888 synonymous_variant Cta/Tta rs28628149 LOW SNV MT-ND1 protein_coding - - - 1667 m.4200A>T 4200 A T 30 0.004128819 0 0.000000000 7266 0.004128819 MT_4200_A/T homo ENSG00000198888 synonymous_variant ctA/ctT - LOW SNV MT-ND1 protein_coding - - - 1668 m.4203A>G 4203 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_4203_A/G homo ENSG00000198888 synonymous_variant gcA/gcG - LOW SNV MT-ND1 protein_coding - - - 1669 m.4204T>C 4204 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4204_T/C homo ENSG00000198888 synonymous_variant Tta/Cta - LOW SNV MT-ND1 protein_coding - - - 1670 m.4205T>C 4205 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4205_T/C homo ENSG00000198888 missense_variant tTa/tCa - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.02) benign(0.01) - 1671 m.4209T>C 4209 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_4209_T/C homo ENSG00000198888 synonymous_variant ctT/ctC - LOW SNV MT-ND1 protein_coding - - - 1672 m.4216T>C 4216 T C 250 0.034406826 0 0.000000000 7266 0.034406826 MT_4216_T/C homo ENSG00000198888 missense_variant Tat/Cat rs1599988,COSV62293824 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(1) benign(0.006) benign,not_provided,conflicting_interpretations_of_pathogenicity 1673 m.4218T>C 4218 T C 37 0.005092210 0 0.000000000 7266 0.005092210 MT_4218_T/C homo ENSG00000198888 synonymous_variant taT/taC rs878853061 LOW SNV MT-ND1 protein_coding - - likely_benign 1674 m.4219G>A 4219 G A 6 0.000825764 3 0.000412882 7266 0.001238646 MT_4219_G/A homo&heter ENSG00000198888 missense_variant Gtc/Atc rs878853008 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(1) benign(0) benign,likely_benign 1675 m.4221C>T 4221 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4221_C/T homo ENSG00000198888 synonymous_variant gtC/gtT rs386828937 LOW SNV MT-ND1 protein_coding - - - 1676 m.4222T>A 4222 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4222_T/A homo ENSG00000198888 missense_variant Tcc/Acc - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.15) benign(0.043) - 1677 m.4224C>T 4224 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4224_C/T homo ENSG00000198888 synonymous_variant tcC/tcT COSV62293849 LOW SNV MT-ND1 protein_coding - - - 1678 m.4225A>G 4225 A G 15 0.002064410 0 0.000000000 7266 0.002064410 MT_4225_A/G homo ENSG00000198888 missense_variant Ata/Gta - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.07) benign(0) - 1679 m.4226T>C 4226 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4226_T/C homo ENSG00000198888 missense_variant aTa/aCa - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.09) benign(0) - 1680 m.4227A>G 4227 A G 4 0.000550509 1 0.000137627 7266 0.000688137 MT_4227_A/G homo&heter ENSG00000198888 synonymous_variant atA/atG rs1556422832 LOW SNV MT-ND1 protein_coding - - - 1681 m.4230C>T 4230 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4230_C/T homo ENSG00000198888 synonymous_variant ccC/ccT - LOW SNV MT-ND1 protein_coding - - - 1682 m.4231A>G 4231 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4231_A/G homo ENSG00000198888 missense_variant Att/Gtt rs878929819 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.09) benign(0.003) - 1683 m.4232T>C 4232 T C 39 0.005367465 0 0.000000000 7266 0.005367465 MT_4232_T/C homo ENSG00000198888 missense_variant aTt/aCt rs1556422834 MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.13) benign(0.003) - 1684 m.4233T>C 4233 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4233_T/C homo ENSG00000198888 synonymous_variant atT/atC - LOW SNV MT-ND1 protein_coding - - - 1685 m.4234A>T 4234 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4234_A/T homo ENSG00000198888 missense_variant Aca/Tca - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.78) benign(0.001) - 1686 m.4242C>T 4242 C T 23 0.003165428 0 0.000000000 7266 0.003165428 MT_4242_C/T homo ENSG00000198888 synonymous_variant tcC/tcT - LOW SNV MT-ND1 protein_coding - - - 1687 m.4244G>A 4244 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_4244_G/A heter ENSG00000198888 missense_variant aGc/aAc - MODERATE SNV MT-ND1 protein_coding tolerated_low_confidence(0.09) benign(0.001) - 1688 m.4245C>T 4245 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4245_C/T homo ENSG00000198888 synonymous_variant agC/agT rs1556422836 LOW SNV MT-ND1 protein_coding - - - 1689 m.4248T>C 4248 T C 489 0.067299752 0 0.000000000 7266 0.067299752 MT_4248_T/C homo ENSG00000198888 synonymous_variant atT/atC rs9326618 LOW SNV MT-ND1 protein_coding - - - 1690 m.4253CT>C 4253 CT C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4254_T/- heter ENSG00000198888 frameshift_variant ccT/cc - HIGH deletion MT-ND1 protein_coding - - - 1691 m.4254T>C 4254 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_4254_T/C homo&heter ENSG00000198888 synonymous_variant ccT/ccC - LOW SNV MT-ND1 protein_coding - - - 1692 m.4257A>G 4257 A G 4 0.000550509 1 0.000137627 7266 0.000688137 MT_4257_A/G homo&heter ENSG00000198888 synonymous_variant caA/caG - LOW SNV MT-ND1 protein_coding - - - 1693 m.4258A>G 4258 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4258_A/G heter ENSG00000198888 missense_variant Acc/Gcc - MODERATE SNV MT-ND1 protein_coding deleterious_low_confidence(0.01) benign(0.102) - 1694 m.4264G>A 4264 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4264_G/A heter ENSG00000210100 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TI Mt_tRNA - - - 1695 m.4267A>G 4267 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4267_A/G heter ENSG00000210100 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TI Mt_tRNA - - - 1696 m.4269A>G 4269 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4269_A/G heter ENSG00000210100 non_coding_transcript_exon_variant - rs121434466 MODIFIER SNV MT-TI Mt_tRNA - - pathogenic 1697 m.4275G>A 4275 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4275_G/A heter ENSG00000210100 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TI Mt_tRNA - - - 1698 m.4277T>C 4277 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4277_T/C homo ENSG00000210100 non_coding_transcript_exon_variant - rs876661358 MODIFIER SNV MT-TI Mt_tRNA - - uncertain_significance,benign 1699 m.4295A>G 4295 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4295_A/G homo ENSG00000210100 non_coding_transcript_exon_variant - rs121434467 MODIFIER SNV MT-TI Mt_tRNA - - pathogenic,benign,uncertain_significance 1700 m.4304A>G 4304 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4304_A/G heter ENSG00000210100 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TI Mt_tRNA - - - 1701 m.4310A>G 4310 A G 7 0.000963391 2 0.000275255 7266 0.001238646 MT_4310_A/G homo&heter ENSG00000210100 non_coding_transcript_exon_variant - rs1556422841 MODIFIER SNV MT-TI Mt_tRNA - - - 1702 m.4312C>T 4312 C T 53 0.007294247 0 0.000000000 7266 0.007294247 MT_4312_C/T homo ENSG00000210100 non_coding_transcript_exon_variant - rs193303033 MODIFIER SNV MT-TI Mt_tRNA - - - 1703 m.4312CT>C 4312 CT C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4313_T/- homo ENSG00000210100 non_coding_transcript_exon_variant - - MODIFIER deletion MT-TI Mt_tRNA - - - 1704 m.4313T>C 4313 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_4313_T/C homo ENSG00000210100 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TI Mt_tRNA - - - 1705 m.4314T>C 4314 T C 12 0.001651528 2 0.000275255 7266 0.001926782 MT_4314_T/C homo&heter ENSG00000210100 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TI Mt_tRNA - - - 1706 m.4314TA>T 4314 TA T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_4315_A/- homo ENSG00000210100 non_coding_transcript_exon_variant - rs876661361 MODIFIER deletion MT-TI Mt_tRNA - - - 1707 m.4315A>AT 4315 A AT 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4316_-/T homo ENSG00000210100 non_coding_transcript_exon_variant - - MODIFIER insertion MT-TI Mt_tRNA - - - 1708 m.4316A>G 4316 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_4316_A/G homo ENSG00000210100 non_coding_transcript_exon_variant - rs876661360 MODIFIER SNV MT-TI Mt_tRNA - - benign,uncertain_significance 1709 m.4317A>G 4317 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4317_A/G homo ENSG00000210100 non_coding_transcript_exon_variant - rs121434465 MODIFIER SNV MT-TI Mt_tRNA - - pathogenic,benign 1710 m.4325A>G 4325 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4325_A/G homo ENSG00000210100 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TI Mt_tRNA - - - 1711 m.4332G>A 4332 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4332_G/A heter ENSG00000210107 non_coding_transcript_exon_variant - rs199476141 MODIFIER SNV MT-TQ Mt_tRNA - - pathogenic 1712 m.4335C>T 4335 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4335_C/T homo ENSG00000210107 non_coding_transcript_exon_variant - rs878959563 MODIFIER SNV MT-TQ Mt_tRNA - - - 1713 m.4336T>C 4336 T C 18 0.002477291 0 0.000000000 7266 0.002477291 MT_4336_T/C homo ENSG00000210107 non_coding_transcript_exon_variant - rs41456348 MODIFIER SNV MT-TQ Mt_tRNA - - pathogenic,uncertain_significance,benign 1714 m.4342A>G 4342 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4342_A/G homo ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1715 m.4343A>C 4343 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4343_A/C homo ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1716 m.4343A>G 4343 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_4343_A/G homo ENSG00000210107 non_coding_transcript_exon_variant - rs386828939 MODIFIER SNV MT-TQ Mt_tRNA - - - 1717 m.4345C>T 4345 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_4345_C/T homo&heter ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1718 m.4353T>C 4353 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_4353_T/C homo&heter ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1719 m.4357T>C 4357 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4357_T/C heter ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1720 m.4360G>A 4360 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_4360_G/A heter ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1721 m.4363T>C 4363 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_4363_T/C homo ENSG00000210107 non_coding_transcript_exon_variant - rs200009705 MODIFIER SNV MT-TQ Mt_tRNA - - uncertain_significance,benign 1722 m.4364C>T 4364 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4364_C/T homo ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1723 m.4369A>G 4369 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4369_A/G homo ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1724 m.4370T>C 4370 T C 37 0.005092210 0 0.000000000 7266 0.005092210 MT_4370_T/C homo ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1725 m.4371T>C 4371 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4371_T/C homo ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1726 m.4373T>C 4373 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4373_T/C homo ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1727 m.4376G>A 4376 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4376_G/A heter ENSG00000210107 non_coding_transcript_exon_variant - rs1556422851 MODIFIER SNV MT-TQ Mt_tRNA - - - 1728 m.4378G>A 4378 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4378_G/A heter ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1729 m.4380C>T 4380 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_4380_C/T homo ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1730 m.4381A>C 4381 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4381_A/C homo ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1731 m.4381A>G 4381 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4381_A/G homo ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1732 m.4385A>G 4385 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4385_A/G homo ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1733 m.4385A>T 4385 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4385_A/T homo ENSG00000210107 non_coding_transcript_exon_variant - rs386828941 MODIFIER SNV MT-TQ Mt_tRNA - - - 1734 m.4386T>C 4386 T C 110 0.015139004 1 0.000137627 7266 0.015276631 MT_4386_T/C homo&heter ENSG00000210107 non_coding_transcript_exon_variant - rs1569483940 MODIFIER SNV MT-TQ Mt_tRNA - - - 1735 m.4388A>G 4388 A G 16 0.002202037 0 0.000000000 7266 0.002202037 MT_4388_A/G homo ENSG00000210107 non_coding_transcript_exon_variant - rs375986475 MODIFIER SNV MT-TQ Mt_tRNA - - uncertain_significance,benign 1736 m.4394C>T 4394 C T 41 0.005642720 1 0.000137627 7266 0.005780347 MT_4394_C/T homo&heter ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1737 m.4395A>G 4395 A G 5 0.000688137 1 0.000137627 7266 0.000825764 MT_4395_A/G homo&heter ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1738 m.4396T>C 4396 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4396_T/C heter ENSG00000210107 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TQ Mt_tRNA - - - 1739 m.4401A>G 4401 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_4401_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 1740 m.4404T>C 4404 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_4404_T/C heter ENSG00000210112 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TM Mt_tRNA - - - 1741 m.4412G>A 4412 G A 0 0.000000000 3 0.000412882 7266 0.000412882 MT_4412_G/A heter ENSG00000210112 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TM Mt_tRNA - - - 1742 m.4417A>G 4417 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4417_A/G homo ENSG00000210112 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TM Mt_tRNA - - - 1743 m.4418T>C 4418 T C 11 0.001513900 1 0.000137627 7266 0.001651528 MT_4418_T/C homo&heter ENSG00000210112 non_coding_transcript_exon_variant - rs1556422856 MODIFIER SNV MT-TM Mt_tRNA - - - 1744 m.4427G>A 4427 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4427_G/A heter ENSG00000210112 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TM Mt_tRNA - - - 1745 m.4429G>A 4429 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4429_G/A heter ENSG00000210112 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TM Mt_tRNA - - - 1746 m.4435A>G 4435 A G 4 0.000550509 3 0.000412882 7266 0.000963391 MT_4435_A/G homo&heter ENSG00000210112 non_coding_transcript_exon_variant - rs878930498 MODIFIER SNV MT-TM Mt_tRNA - - - 1747 m.4438C>T 4438 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4438_C/T heter ENSG00000210112 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TM Mt_tRNA - - - 1748 m.4445T>C 4445 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4445_T/C heter ENSG00000210112 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TM Mt_tRNA - - - 1749 m.4448T>C 4448 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4448_T/C heter ENSG00000210112 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TM Mt_tRNA - - - 1750 m.4452T>C 4452 T C 20 0.002752546 0 0.000000000 7266 0.002752546 MT_4452_T/C homo ENSG00000210112 non_coding_transcript_exon_variant - rs377043134 MODIFIER SNV MT-TM Mt_tRNA - - - 1751 m.4454T>A 4454 T A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4454_T/A homo ENSG00000210112 non_coding_transcript_exon_variant - rs11510098 MODIFIER SNV MT-TM Mt_tRNA - - - 1752 m.4454T>C 4454 T C 26 0.003578310 1 0.000137627 7266 0.003715937 MT_4454_T/C homo&heter ENSG00000210112 non_coding_transcript_exon_variant - rs11510098 MODIFIER SNV MT-TM Mt_tRNA - - - 1753 m.4456C>T 4456 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4456_C/T homo ENSG00000210112 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TM Mt_tRNA - - - 1754 m.4463C>T 4463 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4463_C/T heter ENSG00000210112 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TM Mt_tRNA - - - 1755 m.4465T>C 4465 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4465_T/C heter ENSG00000210112 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TM Mt_tRNA - - - 1756 m.4481G>A 4481 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4481_G/A homo ENSG00000198763 synonymous_variant ctG/ctA rs879191316 LOW SNV MT-ND2 protein_coding - - - 1757 m.4482G>A 4482 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4482_G/A heter ENSG00000198763 missense_variant Gcc/Acc - MODERATE SNV MT-ND2 protein_coding tolerated(0.64) probably_damaging(0.998) - 1758 m.4487A>G 4487 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_4487_A/G homo&heter ENSG00000198763 synonymous_variant caA/caG - LOW SNV MT-ND2 protein_coding - - - 1759 m.4490C>T 4490 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4490_C/T homo ENSG00000198763 synonymous_variant ccC/ccT - LOW SNV MT-ND2 protein_coding - - - 1760 m.4491G>A 4491 G A 109 0.015001376 0 0.000000000 7266 0.015001376 MT_4491_G/A homo ENSG00000198763 missense_variant Gtc/Atc rs201172504 MODERATE SNV MT-ND2 protein_coding tolerated(1) benign(0) - 1761 m.4496C>T 4496 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4496_C/T homo ENSG00000198763 synonymous_variant atC/atT rs386828944 LOW SNV MT-ND2 protein_coding - - - 1762 m.4500T>C 4500 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_4500_T/C homo ENSG00000198763 missense_variant Tct/Cct rs879007369 MODERATE SNV MT-ND2 protein_coding tolerated(0.14) benign(0.003) - 1763 m.4501C>T 4501 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4501_C/T homo ENSG00000198763 missense_variant tCt/tTt - MODERATE SNV MT-ND2 protein_coding tolerated(0.83) benign(0.003) - 1764 m.4502T>C 4502 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_4502_T/C homo&heter ENSG00000198763 synonymous_variant tcT/tcC - LOW SNV MT-ND2 protein_coding - - - 1765 m.4505C>T 4505 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4505_C/T homo ENSG00000198763 synonymous_variant acC/acT - LOW SNV MT-ND2 protein_coding - - - 1766 m.4506A>G 4506 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4506_A/G homo ENSG00000198763 missense_variant Atc/Gtc rs11510099 MODERATE SNV MT-ND2 protein_coding tolerated(0.49) benign(0.003) - 1767 m.4509T>C 4509 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4509_T/C homo ENSG00000198763 missense_variant Ttt/Ctt - MODERATE SNV MT-ND2 protein_coding tolerated(0.36) benign(0) - 1768 m.4510T>C 4510 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4510_T/C heter ENSG00000198763 missense_variant tTt/tCt - MODERATE SNV MT-ND2 protein_coding deleterious(0) benign(0.096) - 1769 m.4511T>C 4511 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4511_T/C homo ENSG00000198763 synonymous_variant ttT/ttC rs1556422867 LOW SNV MT-ND2 protein_coding - - - 1770 m.4512G>A 4512 G A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_4512_G/A homo ENSG00000198763 missense_variant Gca/Aca - MODERATE SNV MT-ND2 protein_coding tolerated(0.34) benign(0.003) - 1771 m.4515G>A 4515 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4515_G/A heter ENSG00000198763 missense_variant Ggc/Agc - MODERATE SNV MT-ND2 protein_coding deleterious(0.03) probably_damaging(0.999) - 1772 m.4525T>C 4525 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4525_T/C heter ENSG00000198763 missense_variant aTc/aCc - MODERATE SNV MT-ND2 protein_coding tolerated(0.08) benign(0.022) - 1773 m.4529A>G 4529 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4529_A/G homo ENSG00000198763 synonymous_variant acA/acG - LOW SNV MT-ND2 protein_coding - - - 1774 m.4529A>T 4529 A T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_4529_A/T homo ENSG00000198763 synonymous_variant acA/acT rs1556422869 LOW SNV MT-ND2 protein_coding - - - 1775 m.4532G>A 4532 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4532_G/A heter ENSG00000198763 synonymous_variant gcG/gcA - LOW SNV MT-ND2 protein_coding - - - 1776 m.4537G>A 4537 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_4537_G/A heter ENSG00000198763 missense_variant aGc/aAc - MODERATE SNV MT-ND2 protein_coding deleterious(0.01) probably_damaging(0.998) - 1777 m.4538C>T 4538 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4538_C/T homo ENSG00000198763 synonymous_variant agC/agT - LOW SNV MT-ND2 protein_coding - - - 1778 m.4541G>A 4541 G A 12 0.001651528 0 0.000000000 7266 0.001651528 MT_4541_G/A homo ENSG00000198763 synonymous_variant tcG/tcA rs386828945 LOW SNV MT-ND2 protein_coding - - - 1779 m.4545T>C 4545 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4545_T/C heter ENSG00000198763 missense_variant Tga/Cga - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(1) - 1780 m.4547A>AT 4547 A AT 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4548_-/T heter ENSG00000198763 frameshift_variant -/T - HIGH insertion MT-ND2 protein_coding - - - 1781 m.4547A>G 4547 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4547_A/G homo ENSG00000198763 synonymous_variant tgA/tgG - LOW SNV MT-ND2 protein_coding - - - 1782 m.4547AT>A 4547 AT A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4548_T/- heter ENSG00000198763 frameshift_variant Ttt/tt - HIGH deletion MT-ND2 protein_coding - - - 1783 m.4550T>C 4550 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4550_T/C homo ENSG00000198763 synonymous_variant ttT/ttC - LOW SNV MT-ND2 protein_coding - - - 1784 m.4553T>C 4553 T C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_4553_T/C homo ENSG00000198763 synonymous_variant ttT/ttC rs1556422870 LOW SNV MT-ND2 protein_coding - - - 1785 m.4556C>A 4556 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4556_C/A homo ENSG00000198763 synonymous_variant acC/acA - LOW SNV MT-ND2 protein_coding - - - 1786 m.4558G>A 4558 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4558_G/A heter ENSG00000198763 stop_gained tGa/tAa - HIGH SNV MT-ND2 protein_coding - - - 1787 m.4558G>C 4558 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4558_G/C heter ENSG00000198763 missense_variant tGa/tCa - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(1) - 1788 m.4560G>A 4560 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4560_G/A homo ENSG00000198763 missense_variant Gta/Ata - MODERATE SNV MT-ND2 protein_coding tolerated(0.55) benign(0.033) - 1789 m.4561T>C 4561 T C 18 0.002477291 0 0.000000000 7266 0.002477291 MT_4561_T/C homo ENSG00000198763 missense_variant gTa/gCa rs41376350 MODERATE SNV MT-ND2 protein_coding tolerated(0.29) benign(0.005) - 1790 m.4562A>G 4562 A G 57 0.007844756 0 0.000000000 7266 0.007844756 MT_4562_A/G homo ENSG00000198763 synonymous_variant gtA/gtG - LOW SNV MT-ND2 protein_coding - - - 1791 m.4562A>T 4562 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4562_A/T homo ENSG00000198763 synonymous_variant gtA/gtT - LOW SNV MT-ND2 protein_coding - - - 1792 m.4567T>C 4567 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_4567_T/C heter ENSG00000198763 missense_variant cTa/cCa - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(1) - 1793 m.4573T>C 4573 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4573_T/C heter ENSG00000198763 missense_variant aTa/aCa - MODERATE SNV MT-ND2 protein_coding deleterious(0) possibly_damaging(0.715) - 1794 m.4580G>A 4580 G A 60 0.008257638 0 0.000000000 7266 0.008257638 MT_4580_G/A homo ENSG00000198763 synonymous_variant atG/atA rs28357975 LOW SNV MT-ND2 protein_coding - - - 1795 m.4584G>A 4584 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_4584_G/A heter ENSG00000198763 missense_variant Gct/Act - MODERATE SNV MT-ND2 protein_coding deleterious(0.03) probably_damaging(1) - 1796 m.4586T>C 4586 T C 56 0.007707129 1 0.000137627 7266 0.007844756 MT_4586_T/C homo&heter ENSG00000198763 synonymous_variant gcT/gcC rs372070966 LOW SNV MT-ND2 protein_coding - - - 1797 m.4587T>C 4587 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4587_T/C heter ENSG00000198763 missense_variant Ttt/Ctt - MODERATE SNV MT-ND2 protein_coding tolerated(0.06) benign(0.416) - 1798 m.4589T>C 4589 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4589_T/C homo ENSG00000198763 synonymous_variant ttT/ttC - LOW SNV MT-ND2 protein_coding - - - 1799 m.4592T>C 4592 T C 7 0.000963391 2 0.000275255 7266 0.001238646 MT_4592_T/C homo&heter ENSG00000198763 synonymous_variant atT/atC rs1556422875 LOW SNV MT-ND2 protein_coding - - - 1800 m.4596G>A 4596 G A 17 0.002339664 0 0.000000000 7266 0.002339664 MT_4596_G/A homo ENSG00000198763 missense_variant Gtt/Att rs1117207 MODERATE SNV MT-ND2 protein_coding tolerated(1) benign(0.011) - 1801 m.4598T>A 4598 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4598_T/A homo ENSG00000198763 synonymous_variant gtT/gtA COSV62293254 LOW SNV MT-ND2 protein_coding - - - 1802 m.4598T>C 4598 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_4598_T/C homo&heter ENSG00000198763 synonymous_variant gtT/gtC COSV62293254 LOW SNV MT-ND2 protein_coding - - - 1803 m.4604C>CA 4604 C CA 0 0.000000000 2 0.000275255 7266 0.000275255 MT_4605_-/A heter ENSG00000198763 frameshift_variant -/A - HIGH insertion MT-ND2 protein_coding - - - 1804 m.4612T>C 4612 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4612_T/C homo ENSG00000198763 missense_variant aTa/aCa - MODERATE SNV MT-ND2 protein_coding tolerated(0.55) benign(0.001) - 1805 m.4615A>G 4615 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4615_A/G homo ENSG00000198763 missense_variant aAc/aGc rs386828946 MODERATE SNV MT-ND2 protein_coding tolerated(0.22) benign(0.056) - 1806 m.4619T>C 4619 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4619_T/C homo ENSG00000198763 synonymous_variant ccT/ccC - LOW SNV MT-ND2 protein_coding - - - 1807 m.4622T>C 4622 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_4622_T/C homo&heter ENSG00000198763 synonymous_variant cgT/cgC - LOW SNV MT-ND2 protein_coding - - - 1808 m.4625C>T 4625 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4625_C/T homo ENSG00000198763 synonymous_variant tcC/tcT - LOW SNV MT-ND2 protein_coding - - - 1809 m.4626A>G 4626 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4626_A/G homo ENSG00000198763 missense_variant Aca/Gca - MODERATE SNV MT-ND2 protein_coding deleterious(0.01) benign(0.133) - 1810 m.4628A>G 4628 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4628_A/G homo ENSG00000198763 synonymous_variant acA/acG - LOW SNV MT-ND2 protein_coding - - - 1811 m.4634T>C 4634 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_4634_T/C homo ENSG00000198763 synonymous_variant gcT/gcC rs374292687 LOW SNV MT-ND2 protein_coding - - - 1812 m.4637C>T 4637 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4637_C/T homo ENSG00000198763 synonymous_variant gcC/gcT - LOW SNV MT-ND2 protein_coding - - - 1813 m.4638A>G 4638 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_4638_A/G homo ENSG00000198763 missense_variant Atc/Gtc rs878960801 MODERATE SNV MT-ND2 protein_coding deleterious(0.03) benign(0.129) - 1814 m.4639T>C 4639 T C 8 0.001101018 1 0.000137627 7266 0.001238646 MT_4639_T/C homo&heter ENSG00000198763 missense_variant aTc/aCc rs41510547 MODERATE SNV MT-ND2 protein_coding tolerated(1) benign(0.003) - 1815 m.4643G>A 4643 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4643_G/A homo ENSG00000198763 synonymous_variant aaG/aaA rs1556422878 LOW SNV MT-ND2 protein_coding - - - 1816 m.4646T>C 4646 T C 28 0.003853565 0 0.000000000 7266 0.003853565 MT_4646_T/C homo ENSG00000198763 synonymous_variant taT/taC rs375312364 LOW SNV MT-ND2 protein_coding - - - 1817 m.4654C>T 4654 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4654_C/T homo ENSG00000198763 missense_variant aCg/aTg - MODERATE SNV MT-ND2 protein_coding tolerated(0.11) benign(0.033) - 1818 m.4655G>A 4655 G A 54 0.007431874 1 0.000137627 7266 0.007569502 MT_4655_G/A homo&heter ENSG00000198763 synonymous_variant acG/acA rs28600732 LOW SNV MT-ND2 protein_coding - - - 1819 m.4659G>A 4659 G A 14 0.001926782 0 0.000000000 7266 0.001926782 MT_4659_G/A homo ENSG00000198763 missense_variant Gca/Aca rs1556422882 MODERATE SNV MT-ND2 protein_coding tolerated(0.06) benign(0.056) - 1820 m.4665G>A 4665 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_4665_G/A heter ENSG00000198763 missense_variant Gca/Aca - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(1) - 1821 m.4670C>T 4670 C T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_4670_C/T homo ENSG00000198763 synonymous_variant tcC/tcT - LOW SNV MT-ND2 protein_coding - - - 1822 m.4675T>C 4675 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4675_T/C heter ENSG00000198763 missense_variant aTc/aCc - MODERATE SNV MT-ND2 protein_coding deleterious(0) possibly_damaging(0.619) - 1823 m.4676C>T 4676 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_4676_C/T homo ENSG00000198763 synonymous_variant atC/atT - LOW SNV MT-ND2 protein_coding - - - 1824 m.4679T>C 4679 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_4679_T/C homo&heter ENSG00000198763 synonymous_variant ctT/ctC - LOW SNV MT-ND2 protein_coding - - - 1825 m.4681T>C 4681 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4681_T/C heter ENSG00000198763 missense_variant cTa/cCa rs267606889 MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(0.941) pathogenic 1826 m.4682A>G 4682 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4682_A/G homo ENSG00000198763 synonymous_variant ctA/ctG - LOW SNV MT-ND2 protein_coding - - - 1827 m.4684T>C 4684 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4684_T/C heter ENSG00000198763 missense_variant aTa/aCa - MODERATE SNV MT-ND2 protein_coding deleterious(0.01) possibly_damaging(0.706) - 1828 m.4686G>A 4686 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_4686_G/A heter ENSG00000198763 missense_variant Gct/Act - MODERATE SNV MT-ND2 protein_coding tolerated(0.06) benign(0.44) - 1829 m.4688T>A 4688 T A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4688_T/A homo ENSG00000198763 synonymous_variant gcT/gcA - LOW SNV MT-ND2 protein_coding - - - 1830 m.4688T>C 4688 T C 24 0.003303055 3 0.000412882 7266 0.003715937 MT_4688_T/C homo&heter ENSG00000198763 synonymous_variant gcT/gcC rs878853056 LOW SNV MT-ND2 protein_coding - - likely_benign 1831 m.4689A>G 4689 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4689_A/G homo ENSG00000198763 missense_variant Atc/Gtc - MODERATE SNV MT-ND2 protein_coding tolerated(0.24) probably_damaging(0.994) - 1832 m.4695T>C 4695 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_4695_T/C homo ENSG00000198763 missense_variant Ttc/Ctc rs1556422885 MODERATE SNV MT-ND2 protein_coding tolerated(0.41) benign(0) - 1833 m.4696T>C 4696 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4696_T/C homo ENSG00000198763 missense_variant tTc/tCc - MODERATE SNV MT-ND2 protein_coding tolerated(0.12) benign(0) - 1834 m.4697C>T 4697 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4697_C/T homo ENSG00000198763 synonymous_variant ttC/ttT rs386828948 LOW SNV MT-ND2 protein_coding - - - 1835 m.4703T>C 4703 T C 60 0.008257638 1 0.000137627 7266 0.008395266 MT_4703_T/C homo&heter ENSG00000198763 synonymous_variant aaT/aaC rs386828949 LOW SNV MT-ND2 protein_coding - - - 1836 m.4704A>C 4704 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4704_A/C homo ENSG00000198763 missense_variant Ata/Cta - MODERATE SNV MT-ND2 protein_coding tolerated(1) benign(0.001) - 1837 m.4705T>C 4705 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4705_T/C homo ENSG00000198763 missense_variant aTa/aCa - MODERATE SNV MT-ND2 protein_coding tolerated(0.12) benign(0.253) - 1838 m.4706A>G 4706 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_4706_A/G homo ENSG00000198763 synonymous_variant atA/atG - LOW SNV MT-ND2 protein_coding - - - 1839 m.4707C>A 4707 C A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_4707_C/A heter ENSG00000198763 missense_variant Ctc/Atc - MODERATE SNV MT-ND2 protein_coding tolerated(0.09) benign(0.018) - 1840 m.4707C>T 4707 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4707_C/T homo ENSG00000198763 missense_variant Ctc/Ttc - MODERATE SNV MT-ND2 protein_coding tolerated(0.35) benign(0.011) - 1841 m.4712C>T 4712 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4712_C/T homo ENSG00000198763 synonymous_variant tcC/tcT - LOW SNV MT-ND2 protein_coding - - - 1842 m.4715A>G 4715 A G 556 0.076520782 0 0.000000000 7266 0.076520782 MT_4715_A/G homo ENSG00000198763 synonymous_variant ggA/ggG rs28357976 LOW SNV MT-ND2 protein_coding - - - 1843 m.4718A>G 4718 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_4718_A/G homo&heter ENSG00000198763 synonymous_variant caA/caG - LOW SNV MT-ND2 protein_coding - - - 1844 m.4719T>C 4719 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4719_T/C heter ENSG00000198763 missense_variant Tga/Cga - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(1) - 1845 m.4721A>G 4721 A G 14 0.001926782 0 0.000000000 7266 0.001926782 MT_4721_A/G homo ENSG00000198763 synonymous_variant tgA/tgG - LOW SNV MT-ND2 protein_coding - - - 1846 m.4722A>G 4722 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_4722_A/G homo&heter ENSG00000198763 missense_variant Acc/Gcc rs1569483952 MODERATE SNV MT-ND2 protein_coding tolerated(0.1) benign(0.035) - 1847 m.4727A>G 4727 A G 15 0.002064410 0 0.000000000 7266 0.002064410 MT_4727_A/G homo ENSG00000198763 synonymous_variant atA/atG rs1556422891 LOW SNV MT-ND2 protein_coding - - - 1848 m.4730C>T 4730 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4730_C/T homo ENSG00000198763 synonymous_variant acC/acT - LOW SNV MT-ND2 protein_coding - - - 1849 m.4732A>G 4732 A G 52 0.007156620 0 0.000000000 7266 0.007156620 MT_4732_A/G homo ENSG00000198763 missense_variant aAt/aGt rs201854167 MODERATE SNV MT-ND2 protein_coding tolerated(0.38) benign(0.012) - 1850 m.4733T>C 4733 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_4733_T/C homo ENSG00000198763 synonymous_variant aaT/aaC rs878853072 LOW SNV MT-ND2 protein_coding - - likely_benign 1851 m.4734A>G 4734 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_4734_A/G homo ENSG00000198763 missense_variant Act/Gct - MODERATE SNV MT-ND2 protein_coding tolerated(0.54) benign(0) - 1852 m.4736T>C 4736 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4736_T/C homo ENSG00000198763 synonymous_variant acT/acC rs1556422894 LOW SNV MT-ND2 protein_coding - - - 1853 m.4739C>T 4739 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4739_C/T homo ENSG00000198763 synonymous_variant acC/acT - LOW SNV MT-ND2 protein_coding - - - 1854 m.4740A>G 4740 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4740_A/G homo ENSG00000198763 missense_variant Aat/Gat - MODERATE SNV MT-ND2 protein_coding tolerated(0.14) benign(0.048) - 1855 m.4742T>C 4742 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_4742_T/C homo ENSG00000198763 synonymous_variant aaT/aaC rs1553139137 LOW SNV MT-ND2 protein_coding - - - 1856 m.4745A>G 4745 A G 12 0.001651528 1 0.000137627 7266 0.001789155 MT_4745_A/G homo&heter ENSG00000198763 synonymous_variant caA/caG rs1556422896 LOW SNV MT-ND2 protein_coding - - - 1857 m.4745A>T 4745 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4745_A/T homo ENSG00000198763 missense_variant caA/caT - MODERATE SNV MT-ND2 protein_coding tolerated(0.19) probably_damaging(0.955) - 1858 m.4746T>C 4746 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4746_T/C heter ENSG00000198763 missense_variant Tac/Cac - MODERATE SNV MT-ND2 protein_coding tolerated(0.54) possibly_damaging(0.82) - 1859 m.4748C>T 4748 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4748_C/T homo ENSG00000198763 synonymous_variant taC/taT rs1556422897 LOW SNV MT-ND2 protein_coding - - - 1860 m.4749T>C 4749 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4749_T/C homo ENSG00000198763 missense_variant Tca/Cca - MODERATE SNV MT-ND2 protein_coding tolerated(0.19) benign(0.023) - 1861 m.4752T>C 4752 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4752_T/C heter ENSG00000198763 missense_variant Tca/Cca - MODERATE SNV MT-ND2 protein_coding deleterious(0.04) benign(0.058) - 1862 m.4753C>T 4753 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4753_C/T homo ENSG00000198763 missense_variant tCa/tTa - MODERATE SNV MT-ND2 protein_coding deleterious(0.04) possibly_damaging(0.553) - 1863 m.4755T>C 4755 T C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_4755_T/C homo ENSG00000198763 synonymous_variant Tta/Cta - LOW SNV MT-ND2 protein_coding - - - 1864 m.4760A>G 4760 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4760_A/G homo ENSG00000198763 synonymous_variant atA/atG - LOW SNV MT-ND2 protein_coding - - - 1865 m.4761A>G 4761 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4761_A/G homo ENSG00000198763 missense_variant Atc/Gtc - MODERATE SNV MT-ND2 protein_coding tolerated(0.09) benign(0.007) - 1866 m.4762T>C 4762 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_4762_T/C heter ENSG00000198763 missense_variant aTc/aCc - MODERATE SNV MT-ND2 protein_coding tolerated(0.12) benign(0.007) - 1867 m.4763C>T 4763 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4763_C/T homo ENSG00000198763 synonymous_variant atC/atT - LOW SNV MT-ND2 protein_coding - - - 1868 m.4766A>G 4766 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4766_A/G homo ENSG00000198763 synonymous_variant atA/atG - LOW SNV MT-ND2 protein_coding - - - 1869 m.4767A>G 4767 A G 41 0.005642720 1 0.000137627 7266 0.005780347 MT_4767_A/G homo&heter ENSG00000198763 missense_variant Ata/Gta rs1569483957 MODERATE SNV MT-ND2 protein_coding tolerated(0.23) benign(0) - 1870 m.4769A>G 4769 A G 7236 0.995871181 3 0.000412882 7266 0.996284063 MT_4769_A/G homo&heter ENSG00000198763 synonymous_variant atA/atG rs3021086 LOW SNV MT-ND2 protein_coding - - not_provided 1871 m.4772T>C 4772 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_4772_T/C homo ENSG00000198763 synonymous_variant gcT/gcC rs386828951 LOW SNV MT-ND2 protein_coding - - - 1872 m.4775A>G 4775 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_4775_A/G homo ENSG00000198763 synonymous_variant atA/atG - LOW SNV MT-ND2 protein_coding - - - 1873 m.4776G>A 4776 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4776_G/A heter ENSG00000198763 missense_variant Gca/Aca - MODERATE SNV MT-ND2 protein_coding tolerated(0.47) benign(0.019) - 1874 m.4781A>G 4781 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4781_A/G homo ENSG00000198763 synonymous_variant atA/atG - LOW SNV MT-ND2 protein_coding - - - 1875 m.4789G>A 4789 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_4789_G/A heter ENSG00000198763 missense_variant gGa/gAa - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(1) - 1876 m.4790A>G 4790 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4790_A/G homo ENSG00000198763 synonymous_variant ggA/ggG - LOW SNV MT-ND2 protein_coding - - - 1877 m.4793A>G 4793 A G 28 0.003853565 0 0.000000000 7266 0.003853565 MT_4793_A/G homo ENSG00000198763 synonymous_variant atA/atG rs1556422900 LOW SNV MT-ND2 protein_coding - - - 1878 m.4794G>A 4794 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4794_G/A heter ENSG00000198763 missense_variant Gcc/Acc - MODERATE SNV MT-ND2 protein_coding tolerated(0.09) benign(0.21) - 1879 m.4796C>T 4796 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_4796_C/T homo ENSG00000198763 synonymous_variant gcC/gcT - LOW SNV MT-ND2 protein_coding - - - 1880 m.4799C>A 4799 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4799_C/A homo ENSG00000198763 synonymous_variant ccC/ccA - LOW SNV MT-ND2 protein_coding - - - 1881 m.4799C>T 4799 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4799_C/T heter ENSG00000198763 synonymous_variant ccC/ccT - LOW SNV MT-ND2 protein_coding - - - 1882 m.4802T>C 4802 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4802_T/C homo ENSG00000198763 synonymous_variant ttT/ttC - LOW SNV MT-ND2 protein_coding - - - 1883 m.4811A>G 4811 A G 25 0.003440683 0 0.000000000 7266 0.003440683 MT_4811_A/G homo ENSG00000198763 synonymous_variant tgA/tgG rs878971205 LOW SNV MT-ND2 protein_coding - - - 1884 m.4812G>A 4812 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4812_G/A homo ENSG00000198763 missense_variant Gtc/Atc - MODERATE SNV MT-ND2 protein_coding deleterious(0.04) benign(0.06) - 1885 m.4814C>T 4814 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4814_C/T homo ENSG00000198763 synonymous_variant gtC/gtT rs879231261 LOW SNV MT-ND2 protein_coding - - - 1886 m.4818G>A 4818 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4818_G/A heter ENSG00000198763 missense_variant Gag/Aag - MODERATE SNV MT-ND2 protein_coding deleterious(0.01) probably_damaging(0.998) - 1887 m.4820G>A 4820 G A 268 0.036884118 1 0.000137627 7266 0.037021745 MT_4820_G/A homo&heter ENSG00000198763 synonymous_variant gaG/gaA rs28357977 LOW SNV MT-ND2 protein_coding - - - 1888 m.4821G>A 4821 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4821_G/A heter ENSG00000198763 missense_variant Gtt/Att rs878983010 MODERATE SNV MT-ND2 protein_coding deleterious(0.01) probably_damaging(0.997) - 1889 m.4823T>C 4823 T C 56 0.007707129 1 0.000137627 7266 0.007844756 MT_4823_T/C homo&heter ENSG00000198763 synonymous_variant gtT/gtC rs878853062 LOW SNV MT-ND2 protein_coding - - likely_benign 1890 m.4824A>G 4824 A G 507 0.069777044 0 0.000000000 7266 0.069777044 MT_4824_A/G homo ENSG00000198763 missense_variant Acc/Gcc rs1556422903 MODERATE SNV MT-ND2 protein_coding tolerated(0.06) benign(0.318) - 1891 m.4826C>T 4826 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4826_C/T homo ENSG00000198763 synonymous_variant acC/acT - LOW SNV MT-ND2 protein_coding - - - 1892 m.4829A>G 4829 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4829_A/G homo ENSG00000198763 synonymous_variant caA/caG - LOW SNV MT-ND2 protein_coding - - - 1893 m.4832C>T 4832 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4832_C/T homo ENSG00000198763 synonymous_variant ggC/ggT - LOW SNV MT-ND2 protein_coding - - - 1894 m.4833A>G 4833 A G 206 0.028351225 1 0.000137627 7266 0.028488852 MT_4833_A/G homo&heter ENSG00000198763 missense_variant Acc/Gcc rs386419995 MODERATE SNV MT-ND2 protein_coding deleterious(0.03) benign(0.433) - 1895 m.4838T>C 4838 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4838_T/C homo ENSG00000198763 synonymous_variant ccT/ccC - LOW SNV MT-ND2 protein_coding - - - 1896 m.4839C>T 4839 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4839_C/T homo ENSG00000198763 synonymous_variant Ctg/Ttg - LOW SNV MT-ND2 protein_coding - - - 1897 m.4841G>A 4841 G A 2 0.000275255 1 0.000137627 7266 0.000412882 MT_4841_G/A homo&heter ENSG00000198763 synonymous_variant ctG/ctA rs386828953 LOW SNV MT-ND2 protein_coding - - - 1898 m.4844A>G 4844 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4844_A/G homo ENSG00000198763 synonymous_variant acA/acG - LOW SNV MT-ND2 protein_coding - - - 1899 m.4845T>C 4845 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4845_T/C heter ENSG00000198763 missense_variant Tcc/Ccc - MODERATE SNV MT-ND2 protein_coding tolerated(0.2) benign(0.015) - 1900 m.4847C>A 4847 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4847_C/A homo ENSG00000198763 synonymous_variant tcC/tcA - LOW SNV MT-ND2 protein_coding - - - 1901 m.4847C>T 4847 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4847_C/T homo ENSG00000198763 synonymous_variant tcC/tcT - LOW SNV MT-ND2 protein_coding - - - 1902 m.4848G>A 4848 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4848_G/A heter ENSG00000198763 missense_variant Ggc/Agc - MODERATE SNV MT-ND2 protein_coding deleterious(0.03) possibly_damaging(0.849) - 1903 m.4850C>T 4850 C T 127 0.017478668 0 0.000000000 7266 0.017478668 MT_4850_C/T homo ENSG00000198763 synonymous_variant ggC/ggT rs28413696 LOW SNV MT-ND2 protein_coding - - - 1904 m.4851C>T 4851 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_4851_C/T homo ENSG00000198763 synonymous_variant Ctg/Ttg rs1556422916 LOW SNV MT-ND2 protein_coding - - - 1905 m.4852T>C 4852 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4852_T/C heter ENSG00000198763 missense_variant cTg/cCg - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(0.987) - 1906 m.4853G>A 4853 G A 26 0.003578310 0 0.000000000 7266 0.003578310 MT_4853_G/A homo ENSG00000198763 synonymous_variant ctG/ctA rs879068607 LOW SNV MT-ND2 protein_coding - - - 1907 m.4856T>C 4856 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_4856_T/C homo&heter ENSG00000198763 synonymous_variant ctT/ctC rs386828954 LOW SNV MT-ND2 protein_coding - - - 1908 m.4859T>C 4859 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_4859_T/C homo ENSG00000198763 synonymous_variant ctT/ctC rs879214641 LOW SNV MT-ND2 protein_coding - - - 1909 m.4868A>G 4868 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4868_A/G homo ENSG00000198763 synonymous_variant tgA/tgG - LOW SNV MT-ND2 protein_coding - - - 1910 m.4875C>T 4875 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4875_C/T homo ENSG00000198763 synonymous_variant Cta/Tta - LOW SNV MT-ND2 protein_coding - - - 1911 m.4880C>T 4880 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4880_C/T homo ENSG00000198763 synonymous_variant gcC/gcT rs1556422919 LOW SNV MT-ND2 protein_coding - - - 1912 m.4883C>T 4883 C T 1163 0.160060556 1 0.000137627 7266 0.160198183 MT_4883_C/T homo&heter ENSG00000198763 synonymous_variant ccC/ccT rs200763872 LOW SNV MT-ND2 protein_coding - - - 1913 m.4884A>G 4884 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4884_A/G homo ENSG00000198763 missense_variant Atc/Gtc rs879155022 MODERATE SNV MT-ND2 protein_coding deleterious(0.04) benign(0.027) - 1914 m.4886C>T 4886 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4886_C/T homo ENSG00000198763 synonymous_variant atC/atT rs1556422920 LOW SNV MT-ND2 protein_coding - - - 1915 m.4889A>G 4889 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4889_A/G homo ENSG00000198763 synonymous_variant tcA/tcG - LOW SNV MT-ND2 protein_coding - - - 1916 m.4890A>G 4890 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4890_A/G homo ENSG00000198763 missense_variant Atc/Gtc - MODERATE SNV MT-ND2 protein_coding tolerated(0.25) probably_damaging(0.994) - 1917 m.4892C>T 4892 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4892_C/T homo ENSG00000198763 synonymous_variant atC/atT - LOW SNV MT-ND2 protein_coding - - - 1918 m.4895A>G 4895 A G 45 0.006193229 0 0.000000000 7266 0.006193229 MT_4895_A/G homo ENSG00000198763 synonymous_variant atA/atG - LOW SNV MT-ND2 protein_coding - - - 1919 m.4901A>G 4901 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4901_A/G homo ENSG00000198763 synonymous_variant caA/caG - LOW SNV MT-ND2 protein_coding - - - 1920 m.4902A>G 4902 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4902_A/G homo ENSG00000198763 missense_variant Atc/Gtc - MODERATE SNV MT-ND2 protein_coding deleterious(0.02) benign(0.033) - 1921 m.4904C>T 4904 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_4904_C/T homo ENSG00000198763 synonymous_variant atC/atT - LOW SNV MT-ND2 protein_coding - - - 1922 m.4907T>C 4907 T C 14 0.001926782 1 0.000137627 7266 0.002064410 MT_4907_T/C homo&heter ENSG00000198763 synonymous_variant tcT/tcC rs1556422922 LOW SNV MT-ND2 protein_coding - - - 1923 m.4908C>T 4908 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4908_C/T homo ENSG00000198763 missense_variant Ccc/Tcc - MODERATE SNV MT-ND2 protein_coding tolerated(0.15) benign(0.006) - 1924 m.4913A>G 4913 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_4913_A/G homo ENSG00000198763 synonymous_variant tcA/tcG - LOW SNV MT-ND2 protein_coding - - - 1925 m.4915T>C 4915 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4915_T/C heter ENSG00000198763 missense_variant cTa/cCa - MODERATE SNV MT-ND2 protein_coding deleterious(0) benign(0.051) - 1926 m.4916A>G 4916 A G 19 0.002614919 0 0.000000000 7266 0.002614919 MT_4916_A/G homo ENSG00000198763 synonymous_variant ctA/ctG rs879141403 LOW SNV MT-ND2 protein_coding - - - 1927 m.4917A>G 4917 A G 85 0.011698321 0 0.000000000 7266 0.011698321 MT_4917_A/G homo ENSG00000198763 missense_variant Aac/Gac rs28357980 MODERATE SNV MT-ND2 protein_coding tolerated(0.09) benign(0.06) uncertain_significance,benign 1928 m.4920G>A 4920 G A 1 0.000137627 2 0.000275255 7266 0.000412882 MT_4920_G/A homo&heter ENSG00000198763 missense_variant Gta/Ata - MODERATE SNV MT-ND2 protein_coding tolerated(0.27) benign(0.033) - 1929 m.4922A>G 4922 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4922_A/G homo ENSG00000198763 synonymous_variant gtA/gtG - LOW SNV MT-ND2 protein_coding - - - 1930 m.4924G>A 4924 G A 10 0.001376273 0 0.000000000 7266 0.001376273 MT_4924_G/A homo ENSG00000198763 missense_variant aGc/aAc rs386828956 MODERATE SNV MT-ND2 protein_coding tolerated(1) benign(0.005) - 1931 m.4926C>A 4926 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4926_C/A homo ENSG00000198763 missense_variant Ctt/Att - MODERATE SNV MT-ND2 protein_coding tolerated(0.54) benign(0.003) - 1932 m.4928T>C 4928 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4928_T/C homo ENSG00000198763 synonymous_variant ctT/ctC rs193303037 LOW SNV MT-ND2 protein_coding - - - 1933 m.4931C>T 4931 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4931_C/T homo ENSG00000198763 synonymous_variant ctC/ctT rs371851388 LOW SNV MT-ND2 protein_coding - - - 1934 m.4936C>T 4936 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4936_C/T homo ENSG00000198763 missense_variant aCt/aTt - MODERATE SNV MT-ND2 protein_coding tolerated(0.26) benign(0.027) - 1935 m.4937T>C 4937 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_4937_T/C homo ENSG00000198763 synonymous_variant acT/acC - LOW SNV MT-ND2 protein_coding - - - 1936 m.4940C>A 4940 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4940_C/A homo ENSG00000198763 synonymous_variant ctC/ctA - LOW SNV MT-ND2 protein_coding - - - 1937 m.4943A>G 4943 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4943_A/G homo ENSG00000198763 synonymous_variant tcA/tcG - LOW SNV MT-ND2 protein_coding - - - 1938 m.4944A>G 4944 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4944_A/G homo ENSG00000198763 missense_variant Atc/Gtc rs878971699 MODERATE SNV MT-ND2 protein_coding tolerated(0.16) benign(0.018) - 1939 m.4945T>C 4945 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4945_T/C heter ENSG00000198763 missense_variant aTc/aCc - MODERATE SNV MT-ND2 protein_coding tolerated(0.27) benign(0.007) - 1940 m.4946C>T 4946 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4946_C/T homo ENSG00000198763 synonymous_variant atC/atT - LOW SNV MT-ND2 protein_coding - - - 1941 m.4947T>C 4947 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4947_T/C homo ENSG00000198763 synonymous_variant Tta/Cta rs1556422933 LOW SNV MT-ND2 protein_coding - - - 1942 m.4949A>G 4949 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4949_A/G homo ENSG00000198763 synonymous_variant ttA/ttG rs375775796 LOW SNV MT-ND2 protein_coding - - - 1943 m.4952C>T 4952 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_4952_C/T homo ENSG00000198763 synonymous_variant tcC/tcT - LOW SNV MT-ND2 protein_coding - - - 1944 m.4954T>C 4954 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_4954_T/C heter ENSG00000198763 missense_variant aTc/aCc - MODERATE SNV MT-ND2 protein_coding tolerated(0.15) benign(0.056) - 1945 m.4955C>T 4955 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4955_C/T homo ENSG00000198763 synonymous_variant atC/atT - LOW SNV MT-ND2 protein_coding - - - 1946 m.4958A>G 4958 A G 19 0.002614919 0 0.000000000 7266 0.002614919 MT_4958_A/G homo ENSG00000198763 synonymous_variant atA/atG - LOW SNV MT-ND2 protein_coding - - - 1947 m.4959G>A 4959 G A 7 0.000963391 3 0.000412882 7266 0.001376273 MT_4959_G/A homo&heter ENSG00000198763 missense_variant Gca/Aca - MODERATE SNV MT-ND2 protein_coding tolerated(0.07) benign(0.027) - 1948 m.4960C>T 4960 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_4960_C/T homo ENSG00000198763 missense_variant gCa/gTa - MODERATE SNV MT-ND2 protein_coding tolerated(0.67) benign(0.007) - 1949 m.4961A>C 4961 A C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_4961_A/C homo ENSG00000198763 synonymous_variant gcA/gcC - LOW SNV MT-ND2 protein_coding - - - 1950 m.4961A>G 4961 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_4961_A/G homo ENSG00000198763 synonymous_variant gcA/gcG rs878890798 LOW SNV MT-ND2 protein_coding - - - 1951 m.4964C>T 4964 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4964_C/T homo ENSG00000198763 synonymous_variant ggC/ggT - LOW SNV MT-ND2 protein_coding - - - 1952 m.4965A>G 4965 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_4965_A/G homo ENSG00000198763 missense_variant Agt/Ggt rs879150535 MODERATE SNV MT-ND2 protein_coding tolerated(1) benign(0.06) - 1953 m.4966G>A 4966 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4966_G/A heter ENSG00000198763 missense_variant aGt/aAt - MODERATE SNV MT-ND2 protein_coding deleterious(0) possibly_damaging(0.855) - 1954 m.4967T>C 4967 T C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_4967_T/C homo ENSG00000198763 synonymous_variant agT/agC rs879164953 LOW SNV MT-ND2 protein_coding - - - 1955 m.4970A>G 4970 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_4970_A/G homo ENSG00000198763 synonymous_variant tgA/tgG - LOW SNV MT-ND2 protein_coding - - - 1956 m.4971G>A 4971 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4971_G/A heter ENSG00000198763 missense_variant Ggt/Agt - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(1) - 1957 m.4973T>C 4973 T C 14 0.001926782 0 0.000000000 7266 0.001926782 MT_4973_T/C homo ENSG00000198763 synonymous_variant ggT/ggC rs386828957 LOW SNV MT-ND2 protein_coding - - - 1958 m.4973T>G 4973 T G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_4973_T/G homo ENSG00000198763 synonymous_variant ggT/ggG - LOW SNV MT-ND2 protein_coding - - - 1959 m.4974G>A 4974 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_4974_G/A heter ENSG00000198763 stop_gained Gga/Aga - HIGH SNV MT-ND2 protein_coding - - - 1960 m.4976A>G 4976 A G 6 0.000825764 1 0.000137627 7266 0.000963391 MT_4976_A/G homo&heter ENSG00000198763 synonymous_variant ggA/ggG rs1556422935 LOW SNV MT-ND2 protein_coding - - - 1961 m.4977T>C 4977 T C 146 0.020093587 0 0.000000000 7266 0.020093587 MT_4977_T/C homo ENSG00000198763 synonymous_variant Tta/Cta rs28357981 LOW SNV MT-ND2 protein_coding - - - 1962 m.4991G>A 4991 G A 44 0.006055601 0 0.000000000 7266 0.006055601 MT_4991_G/A homo ENSG00000198763 synonymous_variant caG/caA rs386828958 LOW SNV MT-ND2 protein_coding - - - 1963 m.4994A>G 4994 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_4994_A/G homo ENSG00000198763 synonymous_variant ctA/ctG - LOW SNV MT-ND2 protein_coding - - - 1964 m.5002T>C 5002 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5002_T/C heter ENSG00000198763 missense_variant aTc/aCc - MODERATE SNV MT-ND2 protein_coding deleterious(0.01) possibly_damaging(0.79) - 1965 m.5004T>C 5004 T C 17 0.002339664 0 0.000000000 7266 0.002339664 MT_5004_T/C homo ENSG00000198763 synonymous_variant Tta/Cta rs41419549 LOW SNV MT-ND2 protein_coding - - - 1966 m.5012C>T 5012 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5012_C/T homo ENSG00000198763 synonymous_variant taC/taT - LOW SNV MT-ND2 protein_coding - - - 1967 m.5013T>C 5013 T C 0 0.000000000 3 0.000412882 7266 0.000412882 MT_5013_T/C heter ENSG00000198763 missense_variant Tcc/Ccc - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(0.972) - 1968 m.5016T>C 5016 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5016_T/C heter ENSG00000198763 missense_variant Tca/Cca - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(0.999) - 1969 m.5021T>C 5021 T C 19 0.002614919 0 0.000000000 7266 0.002614919 MT_5021_T/C homo ENSG00000198763 synonymous_variant atT/atC - LOW SNV MT-ND2 protein_coding - - - 1970 m.5027C>T 5027 C T 44 0.006055601 0 0.000000000 7266 0.006055601 MT_5027_C/T homo ENSG00000198763 synonymous_variant caC/caT - LOW SNV MT-ND2 protein_coding - - - 1971 m.5028A>G 5028 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5028_A/G homo ENSG00000198763 missense_variant Ata/Gta - MODERATE SNV MT-ND2 protein_coding deleterious(0.02) benign(0.003) - 1972 m.5029T>C 5029 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5029_T/C homo ENSG00000198763 missense_variant aTa/aCa - MODERATE SNV MT-ND2 protein_coding deleterious(0.02) benign(0.005) - 1973 m.5032G>A 5032 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5032_G/A heter ENSG00000198763 missense_variant gGa/gAa COSV62293908 MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(1) - 1974 m.5033A>G 5033 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_5033_A/G homo ENSG00000198763 synonymous_variant ggA/ggG rs878853043 LOW SNV MT-ND2 protein_coding - - likely_benign 1975 m.5036A>G 5036 A G 103 0.014175612 0 0.000000000 7266 0.014175612 MT_5036_A/G homo ENSG00000198763 synonymous_variant tgA/tgG rs28357982 LOW SNV MT-ND2 protein_coding - - - 1976 m.5039A>G 5039 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5039_A/G homo ENSG00000198763 synonymous_variant atA/atG rs1556422944 LOW SNV MT-ND2 protein_coding - - - 1977 m.5043G>A 5043 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_5043_G/A heter ENSG00000198763 missense_variant Gca/Aca - MODERATE SNV MT-ND2 protein_coding tolerated(0.19) benign(0.081) - 1978 m.5045A>G 5045 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5045_A/G homo ENSG00000198763 synonymous_variant gcA/gcG - LOW SNV MT-ND2 protein_coding - - - 1979 m.5046G>A 5046 G A 165 0.022708505 0 0.000000000 7266 0.022708505 MT_5046_G/A homo ENSG00000198763 missense_variant Gtt/Att rs878927053 MODERATE SNV MT-ND2 protein_coding tolerated(1) benign(0.024) - 1980 m.5048T>C 5048 T C 30 0.004128819 0 0.000000000 7266 0.004128819 MT_5048_T/C homo ENSG00000198763 synonymous_variant gtT/gtC rs879067982 LOW SNV MT-ND2 protein_coding - - - 1981 m.5049C>T 5049 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_5049_C/T homo ENSG00000198763 synonymous_variant Cta/Tta - LOW SNV MT-ND2 protein_coding - - - 1982 m.5050T>C 5050 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_5050_T/C heter ENSG00000198763 missense_variant cTa/cCa - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(0.99) - 1983 m.5051A>G 5051 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5051_A/G homo ENSG00000198763 synonymous_variant ctA/ctG - LOW SNV MT-ND2 protein_coding - - - 1984 m.5054G>A 5054 G A 22 0.003027801 4 0.000550509 7266 0.003578310 MT_5054_G/A homo&heter ENSG00000198763 synonymous_variant ccG/ccA rs28570593 LOW SNV MT-ND2 protein_coding - - - 1985 m.5054G>C 5054 G C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_5054_G/C homo ENSG00000198763 synonymous_variant ccG/ccC rs28570593 LOW SNV MT-ND2 protein_coding - - - 1986 m.5057C>T 5057 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_5057_C/T homo ENSG00000198763 synonymous_variant taC/taT - LOW SNV MT-ND2 protein_coding - - - 1987 m.5060C>T 5060 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5060_C/T homo ENSG00000198763 synonymous_variant aaC/aaT - LOW SNV MT-ND2 protein_coding - - - 1988 m.5063T>C 5063 T C 22 0.003027801 0 0.000000000 7266 0.003027801 MT_5063_T/C homo ENSG00000198763 synonymous_variant ccT/ccC rs1556422945 LOW SNV MT-ND2 protein_coding - - - 1989 m.5069A>G 5069 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5069_A/G homo ENSG00000198763 synonymous_variant atA/atG - LOW SNV MT-ND2 protein_coding - - - 1990 m.5069A>T 5069 A T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_5069_A/T homo ENSG00000198763 missense_variant atA/atT - MODERATE SNV MT-ND2 protein_coding tolerated(0.55) benign(0) - 1991 m.5073A>G 5073 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5073_A/G homo ENSG00000198763 missense_variant Att/Gtt - MODERATE SNV MT-ND2 protein_coding tolerated(0.08) benign(0.04) - 1992 m.5074T>C 5074 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_5074_T/C homo ENSG00000198763 missense_variant aTt/aCt rs1556422946 MODERATE SNV MT-ND2 protein_coding tolerated(0.18) benign(0.04) - 1993 m.5075T>C 5075 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5075_T/C homo ENSG00000198763 synonymous_variant atT/atC - LOW SNV MT-ND2 protein_coding - - - 1994 m.5076C>T 5076 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5076_C/T heter ENSG00000198763 missense_variant Ctt/Ttt rs386828960 MODERATE SNV MT-ND2 protein_coding tolerated(0.1) benign(0.041) - 1995 m.5081T>C 5081 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5081_T/C homo ENSG00000198763 synonymous_variant aaT/aaC - LOW SNV MT-ND2 protein_coding - - - 1996 m.5082T>C 5082 T C 24 0.003303055 0 0.000000000 7266 0.003303055 MT_5082_T/C homo ENSG00000198763 synonymous_variant Tta/Cta rs369465016 LOW SNV MT-ND2 protein_coding - - - 1997 m.5086C>T 5086 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5086_C/T homo ENSG00000198763 missense_variant aCt/aTt - MODERATE SNV MT-ND2 protein_coding tolerated(0.79) benign(0.011) - 1998 m.5087T>C 5087 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5087_T/C homo ENSG00000198763 synonymous_variant acT/acC - LOW SNV MT-ND2 protein_coding - - - 1999 m.5090T>C 5090 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_5090_T/C homo ENSG00000198763 synonymous_variant atT/atC rs1556422949 LOW SNV MT-ND2 protein_coding - - - 2000 m.5091T>C 5091 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5091_T/C heter ENSG00000198763 missense_variant Tat/Cat - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(1) - 2001 m.5093T>C 5093 T C 48 0.006606111 1 0.000137627 7266 0.006743738 MT_5093_T/C homo&heter ENSG00000198763 synonymous_variant taT/taC - LOW SNV MT-ND2 protein_coding - - - 2002 m.5094A>C 5094 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5094_A/C homo ENSG00000198763 missense_variant Att/Ctt - MODERATE SNV MT-ND2 protein_coding tolerated(0.11) benign(0.143) - 2003 m.5094A>G 5094 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5094_A/G homo ENSG00000198763 missense_variant Att/Gtt - MODERATE SNV MT-ND2 protein_coding tolerated(0.05) possibly_damaging(0.694) - 2004 m.5095T>C 5095 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_5095_T/C homo&heter ENSG00000198763 missense_variant aTt/aCt rs1556422950 MODERATE SNV MT-ND2 protein_coding deleterious(0.02) probably_damaging(0.972) - 2005 m.5096T>C 5096 T C 45 0.006193229 0 0.000000000 7266 0.006193229 MT_5096_T/C homo ENSG00000198763 synonymous_variant atT/atC - LOW SNV MT-ND2 protein_coding - - - 2006 m.5100C>T 5100 C T 56 0.007707129 0 0.000000000 7266 0.007707129 MT_5100_C/T homo ENSG00000198763 synonymous_variant Cta/Tta - LOW SNV MT-ND2 protein_coding - - - 2007 m.5102A>G 5102 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_5102_A/G homo ENSG00000198763 synonymous_variant ctA/ctG - LOW SNV MT-ND2 protein_coding - - - 2008 m.5105T>C 5105 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_5105_T/C homo ENSG00000198763 synonymous_variant acT/acC rs1057520057 LOW SNV MT-ND2 protein_coding - - uncertain_significance 2009 m.5108T>C 5108 T C 244 0.033581062 1 0.000137627 7266 0.033718690 MT_5108_T/C homo&heter ENSG00000198763 synonymous_variant acT/acC rs386419948 LOW SNV MT-ND2 protein_coding - - - 2010 m.5111C>T 5111 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5111_C/T homo ENSG00000198763 synonymous_variant acC/acT rs1556422951 LOW SNV MT-ND2 protein_coding - - - 2011 m.5112G>A 5112 G A 2 0.000275255 1 0.000137627 7266 0.000412882 MT_5112_G/A homo&heter ENSG00000198763 missense_variant Gca/Aca - MODERATE SNV MT-ND2 protein_coding tolerated(0.76) benign(0) - 2012 m.5114A>G 5114 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5114_A/G homo ENSG00000198763 synonymous_variant gcA/gcG - LOW SNV MT-ND2 protein_coding - - - 2013 m.5123A>G 5123 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5123_A/G homo ENSG00000198763 synonymous_variant ctA/ctG - LOW SNV MT-ND2 protein_coding - - - 2014 m.5124C>A 5124 C A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5124_C/A homo ENSG00000198763 missense_variant Ctc/Atc - MODERATE SNV MT-ND2 protein_coding deleterious(0.04) possibly_damaging(0.849) - 2015 m.5126C>T 5126 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5126_C/T heter ENSG00000198763 synonymous_variant ctC/ctT - LOW SNV MT-ND2 protein_coding - - - 2016 m.5127A>G 5127 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5127_A/G homo ENSG00000198763 missense_variant Aac/Gac - MODERATE SNV MT-ND2 protein_coding tolerated(0.19) benign(0.024) - 2017 m.5128A>G 5128 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_5128_A/G homo ENSG00000198763 missense_variant aAc/aGc - MODERATE SNV MT-ND2 protein_coding tolerated(0.4) benign(0.355) - 2018 m.5130T>C 5130 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5130_T/C homo ENSG00000198763 synonymous_variant Tta/Cta - LOW SNV MT-ND2 protein_coding - - - 2019 m.5131T>C 5131 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5131_T/C homo ENSG00000198763 missense_variant tTa/tCa - MODERATE SNV MT-ND2 protein_coding tolerated(0.25) benign(0.341) - 2020 m.5134A>G 5134 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5134_A/G homo ENSG00000198763 missense_variant aAc/aGc - MODERATE SNV MT-ND2 protein_coding tolerated(0.27) benign(0.023) - 2021 m.5139A>G 5139 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5139_A/G heter ENSG00000198763 missense_variant Agc/Ggc - MODERATE SNV MT-ND2 protein_coding deleterious(0.01) benign(0.348) - 2022 m.5141C>T 5141 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5141_C/T homo ENSG00000198763 synonymous_variant agC/agT - LOW SNV MT-ND2 protein_coding - - - 2023 m.5144C>T 5144 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5144_C/T homo ENSG00000198763 synonymous_variant acC/acT - LOW SNV MT-ND2 protein_coding - - - 2024 m.5147G>A 5147 G A 221 0.030415634 1 0.000137627 7266 0.030553262 MT_5147_G/A homo&heter ENSG00000198763 synonymous_variant acG/acA rs367778601 LOW SNV MT-ND2 protein_coding - - - 2025 m.5148A>G 5148 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5148_A/G heter ENSG00000198763 missense_variant Acc/Gcc - MODERATE SNV MT-ND2 protein_coding deleterious(0.03) benign(0.06) - 2026 m.5150C>T 5150 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5150_C/T homo ENSG00000198763 synonymous_variant acC/acT rs1556422956 LOW SNV MT-ND2 protein_coding - - - 2027 m.5151C>T 5151 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5151_C/T homo ENSG00000198763 synonymous_variant Cta/Tta - LOW SNV MT-ND2 protein_coding - - - 2028 m.5153A>G 5153 A G 103 0.014175612 0 0.000000000 7266 0.014175612 MT_5153_A/G homo ENSG00000198763 synonymous_variant ctA/ctG rs1556422957 LOW SNV MT-ND2 protein_coding - - - 2029 m.5154C>A 5154 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5154_C/A homo ENSG00000198763 missense_variant Cta/Ata - MODERATE SNV MT-ND2 protein_coding tolerated(0.12) benign(0.049) - 2030 m.5160T>C 5160 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5160_T/C homo ENSG00000198763 missense_variant Tct/Cct - MODERATE SNV MT-ND2 protein_coding deleterious(0) possibly_damaging(0.9) - 2031 m.5162T>C 5162 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5162_T/C homo ENSG00000198763 synonymous_variant tcT/tcC rs1556422958 LOW SNV MT-ND2 protein_coding - - - 2032 m.5164G>A 5164 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5164_G/A heter ENSG00000198763 missense_variant cGc/cAc - MODERATE SNV MT-ND2 protein_coding tolerated(1) benign(0.011) - 2033 m.5165C>T 5165 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5165_C/T homo ENSG00000198763 synonymous_variant cgC/cgT rs1556422959 LOW SNV MT-ND2 protein_coding - - - 2034 m.5174C>T 5174 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5174_C/T homo ENSG00000198763 synonymous_variant aaC/aaT - LOW SNV MT-ND2 protein_coding - - - 2035 m.5177G>A 5177 G A 12 0.001651528 1 0.000137627 7266 0.001789155 MT_5177_G/A homo&heter ENSG00000198763 synonymous_variant aaG/aaA rs1556422960 LOW SNV MT-ND2 protein_coding - - likely_benign 2036 m.5178C>A 5178 C A 1164 0.160198183 0 0.000000000 7266 0.160198183 MT_5178_C/A homo ENSG00000198763 missense_variant Cta/Ata rs28357984 MODERATE SNV MT-ND2 protein_coding tolerated(0.53) probably_damaging(0.92) - 2037 m.5179T>C 5179 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5179_T/C heter ENSG00000198763 missense_variant cTa/cCa - MODERATE SNV MT-ND2 protein_coding tolerated(0.19) probably_damaging(0.941) - 2038 m.5181A>G 5181 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5181_A/G homo ENSG00000198763 missense_variant Aca/Gca - MODERATE SNV MT-ND2 protein_coding tolerated(0.06) benign(0.024) - 2039 m.5186A>G 5186 A G 5 0.000688137 1 0.000137627 7266 0.000825764 MT_5186_A/G homo&heter ENSG00000198763 synonymous_variant tgA/tgG - LOW SNV MT-ND2 protein_coding - - - 2040 m.5186A>T 5186 A T 29 0.003991192 0 0.000000000 7266 0.003991192 MT_5186_A/T homo ENSG00000198763 missense_variant tgA/tgT rs878939965 MODERATE SNV MT-ND2 protein_coding deleterious(0.03) probably_damaging(0.958) - 2041 m.5187C>T 5187 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5187_C/T homo ENSG00000198763 synonymous_variant Cta/Tta rs879014605 LOW SNV MT-ND2 protein_coding - - - 2042 m.5189A>G 5189 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5189_A/G homo ENSG00000198763 synonymous_variant ctA/ctG - LOW SNV MT-ND2 protein_coding - - - 2043 m.5191C>T 5191 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5191_C/T homo ENSG00000198763 missense_variant aCa/aTa - MODERATE SNV MT-ND2 protein_coding tolerated(0.23) benign(0.009) - 2044 m.5192A>G 5192 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_5192_A/G homo ENSG00000198763 synonymous_variant acA/acG - LOW SNV MT-ND2 protein_coding - - - 2045 m.5194C>T 5194 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5194_C/T homo ENSG00000198763 missense_variant cCc/cTc - MODERATE SNV MT-ND2 protein_coding tolerated(0.46) benign(0.149) - 2046 m.5196T>C 5196 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_5196_T/C homo ENSG00000198763 synonymous_variant Tta/Cta - LOW SNV MT-ND2 protein_coding - - - 2047 m.5198A>G 5198 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5198_A/G homo ENSG00000198763 synonymous_variant ttA/ttG rs1556422962 LOW SNV MT-ND2 protein_coding - - - 2048 m.5201T>C 5201 T C 22 0.003027801 1 0.000137627 7266 0.003165428 MT_5201_T/C homo&heter ENSG00000198763 synonymous_variant atT/atC - LOW SNV MT-ND2 protein_coding - - - 2049 m.5204A>G 5204 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5204_A/G heter ENSG00000198763 synonymous_variant ccA/ccG - LOW SNV MT-ND2 protein_coding - - - 2050 m.5205T>C 5205 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_5205_T/C homo ENSG00000198763 missense_variant Tcc/Ccc - MODERATE SNV MT-ND2 protein_coding tolerated(0.06) benign(0.015) - 2051 m.5210C>T 5210 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5210_C/T homo ENSG00000198763 synonymous_variant acC/acT - LOW SNV MT-ND2 protein_coding - - - 2052 m.5211C>T 5211 C T 9 0.001238646 1 0.000137627 7266 0.001376273 MT_5211_C/T homo&heter ENSG00000198763 missense_variant Ctc/Ttc - MODERATE SNV MT-ND2 protein_coding deleterious(0.02) probably_damaging(0.962) - 2053 m.5213C>T 5213 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5213_C/T homo ENSG00000198763 synonymous_variant ctC/ctT - LOW SNV MT-ND2 protein_coding - - - 2054 m.5216C>T 5216 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5216_C/T heter ENSG00000198763 synonymous_variant ctC/ctT - LOW SNV MT-ND2 protein_coding - - - 2055 m.5219C>A 5219 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5219_C/A homo ENSG00000198763 synonymous_variant tcC/tcA - LOW SNV MT-ND2 protein_coding - - - 2056 m.5220C>T 5220 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5220_C/T homo ENSG00000198763 synonymous_variant Cta/Tta - LOW SNV MT-ND2 protein_coding - - - 2057 m.5222A>G 5222 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5222_A/G homo ENSG00000198763 synonymous_variant ctA/ctG - LOW SNV MT-ND2 protein_coding - - - 2058 m.5223G>A 5223 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5223_G/A heter ENSG00000198763 stop_gained Gga/Aga - HIGH SNV MT-ND2 protein_coding - - - 2059 m.5226G>A 5226 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5226_G/A heter ENSG00000198763 missense_variant Ggc/Agc - MODERATE SNV MT-ND2 protein_coding deleterious(0.01) probably_damaging(1) - 2060 m.5229C>T 5229 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5229_C/T homo ENSG00000198763 synonymous_variant Ctg/Ttg - LOW SNV MT-ND2 protein_coding - - - 2061 m.5231G>A 5231 G A 358 0.049270575 1 0.000137627 7266 0.049408203 MT_5231_G/A homo&heter ENSG00000198763 synonymous_variant ctG/ctA rs371345850 LOW SNV MT-ND2 protein_coding - - - 2062 m.5231G>C 5231 G C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5231_G/C homo ENSG00000198763 synonymous_variant ctG/ctC - LOW SNV MT-ND2 protein_coding - - - 2063 m.5237G>A 5237 G A 41 0.005642720 3 0.000412882 7266 0.006055601 MT_5237_G/A homo&heter ENSG00000198763 synonymous_variant ccG/ccA rs28357985 LOW SNV MT-ND2 protein_coding - - - 2064 m.5237G>C 5237 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5237_G/C homo ENSG00000198763 synonymous_variant ccG/ccC - LOW SNV MT-ND2 protein_coding - - - 2065 m.5237G>T 5237 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5237_G/T homo ENSG00000198763 synonymous_variant ccG/ccT - LOW SNV MT-ND2 protein_coding - - - 2066 m.5239T>C 5239 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5239_T/C heter ENSG00000198763 missense_variant cTa/cCa - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(1) - 2067 m.5240A>G 5240 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5240_A/G homo ENSG00000198763 synonymous_variant ctA/ctG rs1556422964 LOW SNV MT-ND2 protein_coding - - - 2068 m.5243C>T 5243 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5243_C/T homo ENSG00000198763 synonymous_variant acC/acT - LOW SNV MT-ND2 protein_coding - - - 2069 m.5246C>T 5246 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5246_C/T homo ENSG00000198763 synonymous_variant ggC/ggT - LOW SNV MT-ND2 protein_coding - - - 2070 m.5247T>C 5247 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5247_T/C heter ENSG00000198763 missense_variant Ttt/Ctt - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(0.997) - 2071 m.5249T>C 5249 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_5249_T/C heter ENSG00000198763 synonymous_variant ttT/ttC - LOW SNV MT-ND2 protein_coding - - - 2072 m.5250T>C 5250 T C 11 0.001513900 2 0.000275255 7266 0.001789155 MT_5250_T/C homo&heter ENSG00000198763 synonymous_variant Ttg/Ctg rs28643483 LOW SNV MT-ND2 protein_coding - - - 2073 m.5252G>A 5252 G A 28 0.003853565 0 0.000000000 7266 0.003853565 MT_5252_G/A homo ENSG00000198763 synonymous_variant ttG/ttA rs1556422965 LOW SNV MT-ND2 protein_coding - - - 2074 m.5255C>T 5255 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5255_C/T homo ENSG00000198763 synonymous_variant ccC/ccT - LOW SNV MT-ND2 protein_coding - - - 2075 m.5258A>G 5258 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_5258_A/G homo ENSG00000198763 synonymous_variant aaA/aaG - LOW SNV MT-ND2 protein_coding - - - 2076 m.5261G>A 5261 G A 22 0.003027801 0 0.000000000 7266 0.003027801 MT_5261_G/A homo ENSG00000198763 synonymous_variant tgG/tgA rs370378529 LOW SNV MT-ND2 protein_coding - - - 2077 m.5262G>A 5262 G A 65 0.008945775 3 0.000412882 7266 0.009358657 MT_5262_G/A homo&heter ENSG00000198763 missense_variant Gcc/Acc - MODERATE SNV MT-ND2 protein_coding deleterious(0.03) benign(0.003) - 2078 m.5262G>C 5262 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5262_G/C heter ENSG00000198763 missense_variant Gcc/Ccc - MODERATE SNV MT-ND2 protein_coding deleterious(0) benign(0.296) - 2079 m.5263C>T 5263 C T 59 0.008120011 0 0.000000000 7266 0.008120011 MT_5263_C/T homo ENSG00000198763 missense_variant gCc/gTc rs41320049 MODERATE SNV MT-ND2 protein_coding tolerated(0.14) benign(0.003) - 2080 m.5264C>T 5264 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5264_C/T homo ENSG00000198763 synonymous_variant gcC/gcT rs878882343 LOW SNV MT-ND2 protein_coding - - - 2081 m.5267T>C 5267 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5267_T/C homo ENSG00000198763 synonymous_variant atT/atC - LOW SNV MT-ND2 protein_coding - - - 2082 m.5268A>G 5268 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5268_A/G homo ENSG00000198763 missense_variant Atc/Gtc - MODERATE SNV MT-ND2 protein_coding deleterious(0.02) possibly_damaging(0.466) - 2083 m.5270C>T 5270 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5270_C/T homo ENSG00000198763 synonymous_variant atC/atT - LOW SNV MT-ND2 protein_coding - - - 2084 m.5273A>G 5273 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5273_A/G homo ENSG00000198763 synonymous_variant gaA/gaG - LOW SNV MT-ND2 protein_coding - - - 2085 m.5276A>G 5276 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5276_A/G homo ENSG00000198763 synonymous_variant gaA/gaG rs878934213 LOW SNV MT-ND2 protein_coding - - - 2086 m.5277T>C 5277 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_5277_T/C homo&heter ENSG00000198763 missense_variant Ttc/Ctc rs1556422968 MODERATE SNV MT-ND2 protein_coding tolerated(1) benign(0.001) - 2087 m.5279C>T 5279 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5279_C/T homo ENSG00000198763 synonymous_variant ttC/ttT - LOW SNV MT-ND2 protein_coding - - - 2088 m.5282A>G 5282 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5282_A/G homo ENSG00000198763 synonymous_variant acA/acG - LOW SNV MT-ND2 protein_coding - - - 2089 m.5285A>G 5285 A G 46 0.006330856 0 0.000000000 7266 0.006330856 MT_5285_A/G homo ENSG00000198763 synonymous_variant aaA/aaG rs28357986 LOW SNV MT-ND2 protein_coding - - - 2090 m.5288C>T 5288 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5288_C/T homo ENSG00000198763 synonymous_variant aaC/aaT - LOW SNV MT-ND2 protein_coding - - - 2091 m.5289AAT>A 5289 AAT A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5290_AT/- heter ENSG00000198763 frameshift_variant aAT/a - HIGH deletion MT-ND2 protein_coding - - - 2092 m.5291T>C 5291 T C 17 0.002339664 1 0.000137627 7266 0.002477291 MT_5291_T/C homo&heter ENSG00000198763 synonymous_variant aaT/aaC - LOW SNV MT-ND2 protein_coding - - - 2093 m.5293G>A 5293 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5293_G/A heter ENSG00000198763 missense_variant aGc/aAc - MODERATE SNV MT-ND2 protein_coding tolerated(1) benign(0) - 2094 m.5295C>T 5295 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5295_C/T homo ENSG00000198763 missense_variant Ctc/Ttc rs1556422970 MODERATE SNV MT-ND2 protein_coding tolerated(0.14) benign(0.009) - 2095 m.5297C>T 5297 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5297_C/T homo ENSG00000198763 synonymous_variant ctC/ctT - LOW SNV MT-ND2 protein_coding - - - 2096 m.5300C>T 5300 C T 18 0.002477291 0 0.000000000 7266 0.002477291 MT_5300_C/T homo ENSG00000198763 synonymous_variant atC/atT rs376259646 LOW SNV MT-ND2 protein_coding - - - 2097 m.5301A>G 5301 A G 330 0.045417011 0 0.000000000 7266 0.045417011 MT_5301_A/G homo ENSG00000198763 missense_variant Atc/Gtc rs199794187 MODERATE SNV MT-ND2 protein_coding tolerated(0.13) benign(0.005) - 2098 m.5302T>C 5302 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_5302_T/C homo ENSG00000198763 missense_variant aTc/aCc rs878853115 MODERATE SNV MT-ND2 protein_coding tolerated(0.17) benign(0) benign 2099 m.5309C>T 5309 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5309_C/T homo ENSG00000198763 synonymous_variant acC/acT - LOW SNV MT-ND2 protein_coding - - - 2100 m.5312C>T 5312 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5312_C/T homo ENSG00000198763 synonymous_variant atC/atT rs878995711 LOW SNV MT-ND2 protein_coding - - - 2101 m.5315A>G 5315 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5315_A/G heter ENSG00000198763 synonymous_variant atA/atG rs879059984 LOW SNV MT-ND2 protein_coding - - - 2102 m.5316G>A 5316 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_5316_G/A homo&heter ENSG00000198763 missense_variant Gcc/Acc - MODERATE SNV MT-ND2 protein_coding tolerated(0.11) benign(0.01) - 2103 m.5318C>T 5318 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5318_C/T homo ENSG00000198763 synonymous_variant gcC/gcT - LOW SNV MT-ND2 protein_coding - - - 2104 m.5319A>G 5319 A G 40 0.005505092 0 0.000000000 7266 0.005505092 MT_5319_A/G homo ENSG00000198763 missense_variant Acc/Gcc rs28456039 MODERATE SNV MT-ND2 protein_coding deleterious(0.03) benign(0) - 2105 m.5319A>T 5319 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5319_A/T homo ENSG00000198763 missense_variant Acc/Tcc - MODERATE SNV MT-ND2 protein_coding deleterious(0.01) benign(0.007) - 2106 m.5321C>T 5321 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5321_C/T homo ENSG00000198763 synonymous_variant acC/acT - LOW SNV MT-ND2 protein_coding - - - 2107 m.5322A>G 5322 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5322_A/G homo ENSG00000198763 missense_variant Atc/Gtc - MODERATE SNV MT-ND2 protein_coding tolerated(0.34) benign(0) - 2108 m.5324C>T 5324 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_5324_C/T homo ENSG00000198763 synonymous_variant atC/atT rs1556422979 LOW SNV MT-ND2 protein_coding - - - 2109 m.5328C>A 5328 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5328_C/A homo ENSG00000198763 missense_variant Ctc/Atc - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(0.996) - 2110 m.5329T>C 5329 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5329_T/C heter ENSG00000198763 missense_variant cTc/cCc - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(0.999) - 2111 m.5331C>A 5331 C A 38 0.005229838 0 0.000000000 7266 0.005229838 MT_5331_C/A homo ENSG00000198763 missense_variant Ctt/Att rs200778062 MODERATE SNV MT-ND2 protein_coding tolerated(0.07) benign(0.003) - 2112 m.5331C>T 5331 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5331_C/T homo ENSG00000198763 missense_variant Ctt/Ttt - MODERATE SNV MT-ND2 protein_coding deleterious(0) benign(0.312) - 2113 m.5333T>C 5333 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5333_T/C homo ENSG00000198763 synonymous_variant ctT/ctC - LOW SNV MT-ND2 protein_coding - - - 2114 m.5342C>T 5342 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5342_C/T homo ENSG00000198763 synonymous_variant taC/taT - LOW SNV MT-ND2 protein_coding - - - 2115 m.5343T>C 5343 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5343_T/C heter ENSG00000198763 missense_variant Ttc/Ctc - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(0.997) - 2116 m.5345C>T 5345 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5345_C/T heter ENSG00000198763 synonymous_variant ttC/ttT - LOW SNV MT-ND2 protein_coding - - - 2117 m.5348C>T 5348 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_5348_C/T homo ENSG00000198763 synonymous_variant taC/taT rs878922126 LOW SNV MT-ND2 protein_coding - - - 2118 m.5351A>G 5351 A G 260 0.035783099 0 0.000000000 7266 0.035783099 MT_5351_A/G homo ENSG00000198763 synonymous_variant ctA/ctG rs386828967 LOW SNV MT-ND2 protein_coding - - - 2119 m.5356T>C 5356 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5356_T/C heter ENSG00000198763 missense_variant cTa/cCa - MODERATE SNV MT-ND2 protein_coding deleterious(0) probably_damaging(1) - 2120 m.5357A>G 5357 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_5357_A/G homo&heter ENSG00000198763 synonymous_variant ctA/ctG - LOW SNV MT-ND2 protein_coding - - - 2121 m.5359T>C 5359 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5359_T/C heter ENSG00000198763 missense_variant aTc/aCc - MODERATE SNV MT-ND2 protein_coding tolerated(0.9) benign(0.018) - 2122 m.5360C>T 5360 C T 20 0.002752546 0 0.000000000 7266 0.002752546 MT_5360_C/T homo ENSG00000198763 synonymous_variant atC/atT rs879217723 LOW SNV MT-ND2 protein_coding - - - 2123 m.5366C>A 5366 C A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_5366_C/A homo ENSG00000198763 synonymous_variant tcC/tcA - LOW SNV MT-ND2 protein_coding - - - 2124 m.5369C>T 5369 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5369_C/T homo ENSG00000198763 synonymous_variant acC/acT - LOW SNV MT-ND2 protein_coding - - - 2125 m.5372A>G 5372 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_5372_A/G homo ENSG00000198763 synonymous_variant tcA/tcG - LOW SNV MT-ND2 protein_coding - - - 2126 m.5378A>G 5378 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_5378_A/G homo ENSG00000198763 synonymous_variant acA/acG rs878980147 LOW SNV MT-ND2 protein_coding - - - 2127 m.5378A>T 5378 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5378_A/T homo ENSG00000198763 synonymous_variant acA/acT - LOW SNV MT-ND2 protein_coding - - - 2128 m.5379C>T 5379 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5379_C/T homo ENSG00000198763 synonymous_variant Cta/Tta - LOW SNV MT-ND2 protein_coding - - - 2129 m.5387C>T 5387 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5387_C/T homo ENSG00000198763 synonymous_variant ccC/ccT - LOW SNV MT-ND2 protein_coding - - - 2130 m.5388A>T 5388 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5388_A/T heter ENSG00000198763 missense_variant Ata/Tta - MODERATE SNV MT-ND2 protein_coding deleterious(0) benign(0.035) - 2131 m.5389T>C 5389 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5389_T/C heter ENSG00000198763 missense_variant aTa/aCa - MODERATE SNV MT-ND2 protein_coding tolerated(0.92) benign(0) - 2132 m.5390A>G 5390 A G 14 0.001926782 0 0.000000000 7266 0.001926782 MT_5390_A/G homo ENSG00000198763 synonymous_variant atA/atG rs41333444 LOW SNV MT-ND2 protein_coding - - - 2133 m.5391T>C 5391 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5391_T/C heter ENSG00000198763 missense_variant Tct/Cct - MODERATE SNV MT-ND2 protein_coding tolerated(0.15) benign(0.035) - 2134 m.5393T>C 5393 T C 107 0.014726122 0 0.000000000 7266 0.014726122 MT_5393_T/C homo ENSG00000198763 synonymous_variant tcT/tcC rs28357987 LOW SNV MT-ND2 protein_coding - - - 2135 m.5396C>T 5396 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5396_C/T homo ENSG00000198763 synonymous_variant aaC/aaT - LOW SNV MT-ND2 protein_coding - - - 2136 m.5398A>G 5398 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5398_A/G heter ENSG00000198763 missense_variant aAc/aGc - MODERATE SNV MT-ND2 protein_coding tolerated(0.07) possibly_damaging(0.472) - 2137 m.5399C>T 5399 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5399_C/T homo ENSG00000198763 synonymous_variant aaC/aaT - LOW SNV MT-ND2 protein_coding - - - 2138 m.5400G>A 5400 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5400_G/A homo ENSG00000198763 missense_variant Gta/Ata - MODERATE SNV MT-ND2 protein_coding tolerated(0.94) benign(0.055) - 2139 m.5402A>G 5402 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5402_A/G homo ENSG00000198763 synonymous_variant gtA/gtG rs878971359 LOW SNV MT-ND2 protein_coding - - - 2140 m.5407T>C 5407 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5407_T/C heter ENSG00000198763 missense_variant aTa/aCa - MODERATE SNV MT-ND2 protein_coding tolerated(0.09) possibly_damaging(0.644) - 2141 m.5414A>G 5414 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5414_A/G heter ENSG00000198763 synonymous_variant tgA/tgG - LOW SNV MT-ND2 protein_coding - - - 2142 m.5417G>A 5417 G A 299 0.041150564 0 0.000000000 7266 0.041150564 MT_5417_G/A homo ENSG00000198763 synonymous_variant caG/caA rs386828968 LOW SNV MT-ND2 protein_coding - - - 2143 m.5418T>C 5418 T C 6 0.000825764 2 0.000275255 7266 0.001101018 MT_5418_T/C homo&heter ENSG00000198763 missense_variant Ttt/Ctt - MODERATE SNV MT-ND2 protein_coding tolerated(0.28) benign(0.001) - 2144 m.5420T>C 5420 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_5420_T/C homo ENSG00000198763 synonymous_variant ttT/ttC rs1556422985 LOW SNV MT-ND2 protein_coding - - - 2145 m.5423A>G 5423 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_5423_A/G homo ENSG00000198763 synonymous_variant gaA/gaG rs1556422986 LOW SNV MT-ND2 protein_coding - - - 2146 m.5424C>T 5424 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_5424_C/T homo ENSG00000198763 missense_variant Cat/Tat - MODERATE SNV MT-ND2 protein_coding tolerated(0.15) benign(0) - 2147 m.5426T>C 5426 T C 22 0.003027801 0 0.000000000 7266 0.003027801 MT_5426_T/C homo ENSG00000198763 synonymous_variant caT/caC rs878866102 LOW SNV MT-ND2 protein_coding - - - 2148 m.5429A>G 5429 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5429_A/G homo ENSG00000198763 synonymous_variant acA/acG - LOW SNV MT-ND2 protein_coding - - - 2149 m.5432A>G 5432 A G 7 0.000963391 1 0.000137627 7266 0.001101018 MT_5432_A/G homo&heter ENSG00000198763 synonymous_variant aaA/aaG - LOW SNV MT-ND2 protein_coding - - - 2150 m.5435C>T 5435 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_5435_C/T homo ENSG00000198763 synonymous_variant ccC/ccT - LOW SNV MT-ND2 protein_coding - - - 2151 m.5436A>G 5436 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5436_A/G heter ENSG00000198763 missense_variant Acc/Gcc - MODERATE SNV MT-ND2 protein_coding tolerated(0.17) benign(0.103) - 2152 m.5441A>G 5441 A G 27 0.003715937 0 0.000000000 7266 0.003715937 MT_5441_A/G homo ENSG00000198763 synonymous_variant ccA/ccG - LOW SNV MT-ND2 protein_coding - - - 2153 m.5441A>T 5441 A T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_5441_A/T homo ENSG00000198763 synonymous_variant ccA/ccT rs1556422988 LOW SNV MT-ND2 protein_coding - - - 2154 m.5442T>C 5442 T C 187 0.025736306 2 0.000275255 7266 0.026011561 MT_5442_T/C homo&heter ENSG00000198763 missense_variant Ttc/Ctc rs3020601 MODERATE SNV MT-ND2 protein_coding tolerated(1) benign(0) - 2155 m.5444C>A 5444 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5444_C/A homo ENSG00000198763 missense_variant ttC/ttA - MODERATE SNV MT-ND2 protein_coding tolerated(1) benign(0) - 2156 m.5450C>T 5450 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5450_C/T homo ENSG00000198763 synonymous_variant ccC/ccT - LOW SNV MT-ND2 protein_coding - - - 2157 m.5451A>G 5451 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5451_A/G heter ENSG00000198763 missense_variant Aca/Gca - MODERATE SNV MT-ND2 protein_coding tolerated(0.07) benign(0.007) - 2158 m.5453A>G 5453 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5453_A/G heter ENSG00000198763 synonymous_variant acA/acG - LOW SNV MT-ND2 protein_coding - - - 2159 m.5456C>T 5456 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5456_C/T homo ENSG00000198763 synonymous_variant ctC/ctT - LOW SNV MT-ND2 protein_coding - - - 2160 m.5457A>G 5457 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5457_A/G homo ENSG00000198763 missense_variant Atc/Gtc - MODERATE SNV MT-ND2 protein_coding tolerated(0.08) benign(0.006) - 2161 m.5458T>C 5458 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_5458_T/C heter ENSG00000198763 missense_variant aTc/aCc - MODERATE SNV MT-ND2 protein_coding tolerated(0.3) benign(0.047) - 2162 m.5459C>T 5459 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5459_C/T homo ENSG00000198763 synonymous_variant atC/atT - LOW SNV MT-ND2 protein_coding - - - 2163 m.5460G>A 5460 G A 454 0.062482797 1 0.000137627 7266 0.062620424 MT_5460_G/A homo&heter ENSG00000198763 missense_variant Gcc/Acc rs3021088 MODERATE SNV MT-ND2 protein_coding tolerated(0.38) benign(0) - 2164 m.5461C>T 5461 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5461_C/T homo ENSG00000198763 missense_variant gCc/gTc rs878985080 MODERATE SNV MT-ND2 protein_coding tolerated(0.48) benign(0) - 2165 m.5462C>T 5462 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5462_C/T homo ENSG00000198763 synonymous_variant gcC/gcT - LOW SNV MT-ND2 protein_coding - - - 2166 m.5463C>T 5463 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5463_C/T homo ENSG00000198763 missense_variant Ctt/Ttt rs1556422993 MODERATE SNV MT-ND2 protein_coding deleterious(0.05) benign(0.076) - 2167 m.5465T>C 5465 T C 123 0.016928159 0 0.000000000 7266 0.016928159 MT_5465_T/C homo ENSG00000198763 synonymous_variant ctT/ctC rs3902405 LOW SNV MT-ND2 protein_coding - - benign 2168 m.5466A>G 5466 A G 32 0.004404074 0 0.000000000 7266 0.004404074 MT_5466_A/G homo ENSG00000198763 missense_variant Acc/Gcc - MODERATE SNV MT-ND2 protein_coding deleterious(0.01) benign(0.009) - 2169 m.5471G>A 5471 G A 25 0.003440683 4 0.000550509 7266 0.003991192 MT_5471_G/A homo&heter ENSG00000198763 synonymous_variant acG/acA rs879108598 LOW SNV MT-ND2 protein_coding - - - 2170 m.5472C>T 5472 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5472_C/T homo ENSG00000198763 synonymous_variant Cta/Tta - LOW SNV MT-ND2 protein_coding - - - 2171 m.5474A>G 5474 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_5474_A/G homo&heter ENSG00000198763 synonymous_variant ctA/ctG - LOW SNV MT-ND2 protein_coding - - - 2172 m.5477C>T 5477 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5477_C/T homo ENSG00000198763 synonymous_variant ctC/ctT - LOW SNV MT-ND2 protein_coding - - - 2173 m.5480A>G 5480 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_5480_A/G homo ENSG00000198763 synonymous_variant ctA/ctG - LOW SNV MT-ND2 protein_coding - - - 2174 m.5483T>C 5483 T C 18 0.002477291 0 0.000000000 7266 0.002477291 MT_5483_T/C homo ENSG00000198763 synonymous_variant ccT/ccC rs1556422998 LOW SNV MT-ND2 protein_coding - - - 2175 m.5487T>C 5487 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5487_T/C heter ENSG00000198763 missense_variant Tcc/Ccc - MODERATE SNV MT-ND2 protein_coding deleterious(0) benign(0.135) - 2176 m.5492T>C 5492 T C 32 0.004404074 0 0.000000000 7266 0.004404074 MT_5492_T/C homo ENSG00000198763 synonymous_variant ccT/ccC rs377109345 LOW SNV MT-ND2 protein_coding - - - 2177 m.5493T>C 5493 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_5493_T/C homo ENSG00000198763 missense_variant Ttt/Ctt - MODERATE SNV MT-ND2 protein_coding tolerated(0.57) benign(0) - 2178 m.5494T>G 5494 T G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5494_T/G homo ENSG00000198763 missense_variant tTt/tGt - MODERATE SNV MT-ND2 protein_coding deleterious(0) benign(0.232) - 2179 m.5495T>C 5495 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_5495_T/C homo ENSG00000198763 synonymous_variant ttT/ttC rs3020602 LOW SNV MT-ND2 protein_coding - - - 2180 m.5496A>G 5496 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5496_A/G homo ENSG00000198763 missense_variant Ata/Gta rs879099820 MODERATE SNV MT-ND2 protein_coding deleterious(0.03) benign(0.228) - 2181 m.5498A>G 5498 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5498_A/G homo ENSG00000198763 synonymous_variant atA/atG rs879159974 LOW SNV MT-ND2 protein_coding - - - 2182 m.5499C>T 5499 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5499_C/T homo ENSG00000198763 synonymous_variant Cta/Tta - LOW SNV MT-ND2 protein_coding - - - 2183 m.5501A>G 5501 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5501_A/G homo ENSG00000198763 synonymous_variant ctA/ctG - LOW SNV MT-ND2 protein_coding - - - 2184 m.5502A>G 5502 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5502_A/G heter ENSG00000198763 missense_variant Ata/Gta - MODERATE SNV MT-ND2 protein_coding tolerated(0.28) benign(0.228) - 2185 m.5503T>C 5503 T C 4 0.000550509 1 0.000137627 7266 0.000688137 MT_5503_T/C homo&heter ENSG00000198763 missense_variant aTa/aCa - MODERATE SNV MT-ND2 protein_coding tolerated(0.24) possibly_damaging(0.548) - 2186 m.5505A>G 5505 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5505_A/G homo ENSG00000198763 missense_variant Atc/Gtc rs1569484003 MODERATE SNV MT-ND2 protein_coding tolerated(0.05) benign(0) uncertain_significance,not_provided 2187 m.5508T>C 5508 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_5508_T/C homo ENSG00000198763 synonymous_variant Tta/Cta - LOW SNV MT-ND2 protein_coding - - - 2188 m.5510A>G 5510 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5510_A/G homo ENSG00000198763 synonymous_variant ttA/ttG rs878890630 LOW SNV MT-ND2 protein_coding - - - 2189 m.5511T>C 5511 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5511_T/C heter ENSG00000198763 incomplete_terminal_codon_variant,coding_sequence_variant T/C - LOW SNV MT-ND2 protein_coding - - - 2190 m.5512A>G 5512 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5512_A/G homo ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2191 m.5514A>G 5514 A G 20 0.002752546 0 0.000000000 7266 0.002752546 MT_5514_A/G homo ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2192 m.5515A>G 5515 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5515_A/G homo ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2193 m.5521G>A 5521 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5521_G/A heter ENSG00000210117 non_coding_transcript_exon_variant - rs199474673 MODIFIER SNV MT-TW Mt_tRNA - - pathogenic 2194 m.5528T>C 5528 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5528_T/C heter ENSG00000210117 non_coding_transcript_exon_variant - rs1556423004 MODIFIER SNV MT-TW Mt_tRNA - - - 2195 m.5529A>G 5529 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5529_A/G homo ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2196 m.5530C>T 5530 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5530_C/T homo ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2197 m.5538G>A 5538 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5538_G/A heter ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2198 m.5539A>G 5539 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_5539_A/G homo ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2199 m.5540G>A 5540 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5540_G/A heter ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2200 m.5543T>C 5543 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5543_T/C heter ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2201 m.5553T>C 5553 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5553_T/C homo ENSG00000210117 non_coding_transcript_exon_variant - rs878853053 MODIFIER SNV MT-TW Mt_tRNA - - likely_benign,benign 2202 m.5553T>G 5553 T G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5553_T/G homo ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2203 m.5554C>A 5554 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5554_C/A homo ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2204 m.5554C>T 5554 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5554_C/T homo ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2205 m.5556G>A 5556 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5556_G/A heter ENSG00000210117 non_coding_transcript_exon_variant - rs387906736 MODIFIER SNV MT-TW Mt_tRNA - - pathogenic 2206 m.5557T>C 5557 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5557_T/C homo ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2207 m.5558A>G 5558 A G 34 0.004679328 0 0.000000000 7266 0.004679328 MT_5558_A/G homo ENSG00000210117 non_coding_transcript_exon_variant - rs370471013 MODIFIER SNV MT-TW Mt_tRNA - - - 2208 m.5560G>A 5560 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5560_G/A heter ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2209 m.5561T>C 5561 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_5561_T/C homo&heter ENSG00000210117 non_coding_transcript_exon_variant - rs1556423009 MODIFIER SNV MT-TW Mt_tRNA - - likely_benign,not_provided 2210 m.5563G>A 5563 G A 9 0.001238646 0 0.000000000 7266 0.001238646 MT_5563_G/A homo ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2211 m.5565A>T 5565 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5565_A/T homo ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2212 m.5566A>G 5566 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5566_A/G homo ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2213 m.5567T>C 5567 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_5567_T/C homo ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2214 m.5568A>G 5568 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5568_A/G homo ENSG00000210117 non_coding_transcript_exon_variant - rs200719361 MODIFIER SNV MT-TW Mt_tRNA - - - 2215 m.5573A>G 5573 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5573_A/G homo ENSG00000210117 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TW Mt_tRNA - - - 2216 m.5580T>C 5580 T C 33 0.004541701 0 0.000000000 7266 0.004541701 MT_5580_T/C homo - intergenic_variant - rs1556423011 MODIFIER SNV - - - - - 2217 m.5581A>G 5581 A G 61 0.008395266 0 0.000000000 7266 0.008395266 MT_5581_A/G homo - intergenic_variant - rs2854136 MODIFIER SNV - - - - - 2218 m.5582A>G 5582 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_5582_A/G homo - intergenic_variant - rs879078623 MODIFIER SNV - - - - - 2219 m.5584A>G 5584 A G 15 0.002064410 0 0.000000000 7266 0.002064410 MT_5584_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 2220 m.5585G>A 5585 G A 99 0.013625103 4 0.000550509 7266 0.014175612 MT_5585_G/A homo&heter - intergenic_variant - rs386828973 MODIFIER SNV - - - - - 2221 m.5587T>C 5587 T C 23 0.003165428 0 0.000000000 7266 0.003165428 MT_5587_T/C homo ENSG00000210127 non_coding_transcript_exon_variant - rs386828974 MODIFIER SNV MT-TA Mt_tRNA - - - 2222 m.5592A>G 5592 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_5592_A/G homo&heter ENSG00000210127 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TA Mt_tRNA - - - 2223 m.5599A>G 5599 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5599_A/G heter ENSG00000210127 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TA Mt_tRNA - - - 2224 m.5600A>G 5600 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5600_A/G homo ENSG00000210127 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TA Mt_tRNA - - - 2225 m.5601C>T 5601 C T 151 0.020781723 0 0.000000000 7266 0.020781723 MT_5601_C/T homo ENSG00000210127 non_coding_transcript_exon_variant - rs376884056 MODIFIER SNV MT-TA Mt_tRNA - - - 2226 m.5603C>T 5603 C T 53 0.007294247 0 0.000000000 7266 0.007294247 MT_5603_C/T homo ENSG00000210127 non_coding_transcript_exon_variant - rs369496446 MODIFIER SNV MT-TA Mt_tRNA - - - 2227 m.5604C>T 5604 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5604_C/T homo ENSG00000210127 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TA Mt_tRNA - - - 2228 m.5605A>G 5605 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5605_A/G homo ENSG00000210127 non_coding_transcript_exon_variant - rs878963919 MODIFIER SNV MT-TA Mt_tRNA - - - 2229 m.5615A>G 5615 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5615_A/G homo ENSG00000210127 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TA Mt_tRNA - - - 2230 m.5616A>G 5616 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5616_A/G homo ENSG00000210127 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TA Mt_tRNA - - - 2231 m.5618T>C 5618 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5618_T/C homo ENSG00000210127 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TA Mt_tRNA - - - 2232 m.5621A>G 5621 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5621_A/G heter ENSG00000210127 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TA Mt_tRNA - - - 2233 m.5628T>C 5628 T C 39 0.005367465 3 0.000412882 7266 0.005780347 MT_5628_T/C homo&heter ENSG00000210127 non_coding_transcript_exon_variant - rs1556423015 MODIFIER SNV MT-TA Mt_tRNA - - - 2234 m.5633C>T 5633 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5633_C/T homo ENSG00000210127 non_coding_transcript_exon_variant - rs879226228 MODIFIER SNV MT-TA Mt_tRNA - - - 2235 m.5637T>C 5637 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5637_T/C heter ENSG00000210127 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TA Mt_tRNA - - - 2236 m.5640A>G 5640 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5640_A/G homo ENSG00000210127 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TA Mt_tRNA - - - 2237 m.5641T>C 5641 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5641_T/C homo ENSG00000210127 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TA Mt_tRNA - - - 2238 m.5650G>A 5650 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5650_G/A heter ENSG00000210127 non_coding_transcript_exon_variant - rs121434457 MODIFIER SNV MT-TA Mt_tRNA - - pathogenic 2239 m.5654T>C 5654 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5654_T/C heter ENSG00000210127 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TA Mt_tRNA - - - 2240 m.5655T>C 5655 T C 111 0.015276631 0 0.000000000 7266 0.015276631 MT_5655_T/C homo ENSG00000210127 non_coding_transcript_exon_variant - rs1556423019 MODIFIER SNV MT-TA Mt_tRNA - - - 2241 m.5656A>G 5656 A G 35 0.004816956 0 0.000000000 7266 0.004816956 MT_5656_A/G homo - intergenic_variant - rs41453547 MODIFIER SNV - - - - - 2242 m.5660G>C 5660 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5660_G/C heter ENSG00000210135 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TN Mt_tRNA - - - 2243 m.5661A>G 5661 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5661_A/G heter ENSG00000210135 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TN Mt_tRNA - - - 2244 m.5663C>T 5663 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5663_C/T homo ENSG00000210135 non_coding_transcript_exon_variant - rs1553139251 MODIFIER SNV MT-TN Mt_tRNA - - - 2245 m.5664A>G 5664 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5664_A/G homo ENSG00000210135 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TN Mt_tRNA - - - 2246 m.5665A>G 5665 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5665_A/G homo ENSG00000210135 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TN Mt_tRNA - - - 2247 m.5673T>C 5673 T C 11 0.001513900 0 0.000000000 7266 0.001513900 MT_5673_T/C homo ENSG00000210135 non_coding_transcript_exon_variant - rs386828975 MODIFIER SNV MT-TN Mt_tRNA - - - 2248 m.5674A>G 5674 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5674_A/G homo ENSG00000210135 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TN Mt_tRNA - - - 2249 m.5676A>G 5676 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5676_A/G heter ENSG00000210135 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TN Mt_tRNA - - - 2250 m.5681C>T 5681 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5681_C/T homo ENSG00000210135 non_coding_transcript_exon_variant - rs1556423022 MODIFIER SNV MT-TN Mt_tRNA - - - 2251 m.5700TA>T 5700 TA T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5701_A/- heter ENSG00000210135 non_coding_transcript_exon_variant - - MODIFIER deletion MT-TN Mt_tRNA - - - 2252 m.5711A>G 5711 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_5711_A/G homo ENSG00000210135 non_coding_transcript_exon_variant - rs2854138 MODIFIER SNV MT-TN Mt_tRNA - - - 2253 m.5715A>G 5715 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5715_A/G homo ENSG00000210135 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TN Mt_tRNA - - - 2254 m.5726T>C 5726 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5726_T/C homo ENSG00000210135 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TN Mt_tRNA - - - 2255 m.5743C>CG 5743 C CG 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5744_-/G homo - intergenic_variant - - MODIFIER insertion - - - - - 2256 m.5743C>G 5743 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5743_C/G homo - intergenic_variant - - MODIFIER SNV - - - - - 2257 m.5744G>A 5744 G A 19 0.002614919 0 0.000000000 7266 0.002614919 MT_5744_G/A homo - intergenic_variant - rs1556423026 MODIFIER SNV - - - - - 2258 m.5746G>A 5746 G A 6 0.000825764 0 0.000000000 7266 0.000825764 MT_5746_G/A homo - intergenic_variant - rs1556423028 MODIFIER SNV - - - - - 2259 m.5746G>GA 5746 G GA 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5747_-/A homo - intergenic_variant - - MODIFIER insertion - - - - - 2260 m.5746GA>G 5746 GA G 12 0.001651528 0 0.000000000 7266 0.001651528 MT_5747_A/- homo - intergenic_variant - - MODIFIER deletion - - - - - 2261 m.5747A>G 5747 A G 16 0.002202037 0 0.000000000 7266 0.002202037 MT_5747_A/G homo - intergenic_variant - rs1556423029 MODIFIER SNV - - - - - 2262 m.5773G>A 5773 G A 118 0.016240022 0 0.000000000 7266 0.016240022 MT_5773_G/A homo ENSG00000210140 non_coding_transcript_exon_variant - rs9659239 MODIFIER SNV MT-TC Mt_tRNA - - - 2263 m.5774T>C 5774 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_5774_T/C homo ENSG00000210140 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TC Mt_tRNA - - - 2264 m.5774T>G 5774 T G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5774_T/G homo ENSG00000210140 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TC Mt_tRNA - - - 2265 m.5776T>C 5776 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5776_T/C homo ENSG00000210140 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TC Mt_tRNA - - - 2266 m.5777G>A 5777 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5777_G/A homo ENSG00000210140 non_coding_transcript_exon_variant - rs386828977 MODIFIER SNV MT-TC Mt_tRNA - - - 2267 m.5780G>A 5780 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5780_G/A homo ENSG00000210140 non_coding_transcript_exon_variant - rs878999194 MODIFIER SNV MT-TC Mt_tRNA - - - 2268 m.5783G>A 5783 G A 23 0.003165428 0 0.000000000 7266 0.003165428 MT_5783_G/A homo ENSG00000210140 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TC Mt_tRNA - - - 2269 m.5785T>C 5785 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_5785_T/C homo ENSG00000210140 non_coding_transcript_exon_variant - rs373493739 MODIFIER SNV MT-TC Mt_tRNA - - - 2270 m.5785T>G 5785 T G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5785_T/G heter ENSG00000210140 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TC Mt_tRNA - - - 2271 m.5786T>C 5786 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5786_T/C homo ENSG00000210140 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TC Mt_tRNA - - - 2272 m.5787C>A 5787 C A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5787_C/A heter ENSG00000210140 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TC Mt_tRNA - - - 2273 m.5790C>A 5790 C A 9 0.001238646 0 0.000000000 7266 0.001238646 MT_5790_C/A homo ENSG00000210140 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TC Mt_tRNA - - - 2274 m.5794T>C 5794 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5794_T/C heter ENSG00000210140 non_coding_transcript_exon_variant - rs1556423035 MODIFIER SNV MT-TC Mt_tRNA - - - 2275 m.5800A>G 5800 A G 1 0.000137627 2 0.000275255 7266 0.000412882 MT_5800_A/G homo&heter ENSG00000210140 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TC Mt_tRNA - - - 2276 m.5802T>C 5802 T C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_5802_T/C homo ENSG00000210140 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TC Mt_tRNA - - - 2277 m.5806T>C 5806 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5806_T/C homo ENSG00000210140 non_coding_transcript_exon_variant - rs879211572 MODIFIER SNV MT-TC Mt_tRNA - - - 2278 m.5809G>GA 5809 G GA 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5810_-/A homo ENSG00000210140 non_coding_transcript_exon_variant - - MODIFIER insertion MT-TC Mt_tRNA - - - 2279 m.5809GA>G 5809 GA G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5810_A/- homo ENSG00000210140 non_coding_transcript_exon_variant - - MODIFIER deletion MT-TC Mt_tRNA - - - 2280 m.5811A>G 5811 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5811_A/G homo ENSG00000210140 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TC Mt_tRNA - - - 2281 m.5812A>G 5812 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5812_A/G homo ENSG00000210140 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TC Mt_tRNA - - - 2282 m.5813A>G 5813 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_5813_A/G homo&heter ENSG00000210140 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TC Mt_tRNA - - - 2283 m.5814T>C 5814 T C 63 0.008670520 1 0.000137627 7266 0.008808148 MT_5814_T/C homo&heter ENSG00000210140 non_coding_transcript_exon_variant - rs200077222 MODIFIER SNV MT-TC Mt_tRNA - - uncertain_significance,benign 2284 m.5817C>T 5817 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5817_C/T homo ENSG00000210140 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TC Mt_tRNA - - - 2285 m.5821G>A 5821 G A 123 0.016928159 1 0.000137627 7266 0.017065786 MT_5821_G/A homo&heter ENSG00000210140 non_coding_transcript_exon_variant - rs56133209 MODIFIER SNV MT-TC Mt_tRNA - - - 2286 m.5823A>G 5823 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_5823_A/G homo ENSG00000210140 non_coding_transcript_exon_variant - rs878875817 MODIFIER SNV MT-TC Mt_tRNA - - - 2287 m.5824G>A 5824 G A 6 0.000825764 0 0.000000000 7266 0.000825764 MT_5824_G/A homo ENSG00000210140 non_coding_transcript_exon_variant - rs879140945 MODIFIER SNV MT-TC Mt_tRNA - - - 2288 m.5834A>G 5834 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5834_A/G heter ENSG00000210144 non_coding_transcript_exon_variant - rs878973444 MODIFIER SNV MT-TY Mt_tRNA - - - 2289 m.5836A>G 5836 A G 15 0.002064410 0 0.000000000 7266 0.002064410 MT_5836_A/G homo ENSG00000210144 non_coding_transcript_exon_variant - rs386828979 MODIFIER SNV MT-TY Mt_tRNA - - - 2290 m.5839C>T 5839 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5839_C/T homo ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TY Mt_tRNA - - - 2291 m.5840C>T 5840 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5840_C/T homo ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TY Mt_tRNA - - - 2292 m.5841T>C 5841 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5841_T/C heter ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TY Mt_tRNA - - - 2293 m.5842A>AAC 5842 A AAC 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5843_-/AC homo ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER insertion MT-TY Mt_tRNA - - - 2294 m.5843A>G 5843 A G 14 0.001926782 1 0.000137627 7266 0.002064410 MT_5843_A/G homo&heter ENSG00000210144 non_coding_transcript_exon_variant - rs118203894 MODIFIER SNV MT-TY Mt_tRNA - - benign,pathogenic 2295 m.5846C>T 5846 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5846_C/T homo ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TY Mt_tRNA - - - 2296 m.5848T>C 5848 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5848_T/C heter ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TY Mt_tRNA - - - 2297 m.5852T>C 5852 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5852_T/C heter ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TY Mt_tRNA - - - 2298 m.5857A>G 5857 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5857_A/G heter ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TY Mt_tRNA - - - 2299 m.5865T>C 5865 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5865_T/C heter ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TY Mt_tRNA - - - 2300 m.5875C>T 5875 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5875_C/T homo ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TY Mt_tRNA - - - 2301 m.5876A>G 5876 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5876_A/G homo ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TY Mt_tRNA - - - 2302 m.5885T>C 5885 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5885_T/C heter ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TY Mt_tRNA - - - 2303 m.5886T>C 5886 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5886_T/C heter ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TY Mt_tRNA - - - 2304 m.5889A>ACC 5889 A ACC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5890_-/CC heter ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER insertion MT-TY Mt_tRNA - - - 2305 m.5889A>ACCC 5889 A ACCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5890_-/CCC heter ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER insertion MT-TY Mt_tRNA - - - 2306 m.5889A>ACCCC 5889 A ACCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5890_-/CCCC heter ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER insertion MT-TY Mt_tRNA - - - 2307 m.5889A>ACCCCC 5889 A ACCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5890_-/CCCCC heter ENSG00000210144 non_coding_transcript_exon_variant - - MODIFIER insertion MT-TY Mt_tRNA - - - 2308 m.5891C>CTT 5891 C CTT 0 0.000000000 2 0.000275255 7266 0.000275255 MT_5892_-/TT heter - intergenic_variant - - MODIFIER insertion - - - - - 2309 m.5892T>C 5892 T C 8 0.001101018 1 0.000137627 7266 0.001238646 MT_5892_T/C homo&heter - intergenic_variant - rs879170220 MODIFIER SNV - - - - - 2310 m.5892T>TCC 5892 T TCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/CC heter - intergenic_variant - - MODIFIER insertion - - - - - 2311 m.5892T>TCCC 5892 T TCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/CCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2312 m.5892T>TCCCCCC 5892 T TCCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/CCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2313 m.5892T>TCCCCCCC 5892 T TCCCCCCC 0 0.000000000 3 0.000412882 7266 0.000412882 MT_5893_-/CCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2314 m.5892T>TCCCCCCCC 5892 T TCCCCCCCC 0 0.000000000 3 0.000412882 7266 0.000412882 MT_5893_-/CCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2315 m.5892T>TCCCCCCCCC 5892 T TCCCCCCCCC 0 0.000000000 2 0.000275255 7266 0.000275255 MT_5893_-/CCCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2316 m.5892T>TCCCCCCCCCC 5892 T TCCCCCCCCCC 0 0.000000000 2 0.000275255 7266 0.000275255 MT_5893_-/CCCCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2317 m.5892T>TCCCCCCCCCCCCCCCCCCCCCCCC 5892 T TCCCCCCCCCCCCCCCCCCCCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/CCCCCCCCCCCCCCCCCCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2318 m.5892T>TTCCCCCC 5892 T TTCCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/TCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2319 m.5892T>TTCCCCCCC 5892 T TTCCCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/TCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2320 m.5892T>TTCCCCCCCC 5892 T TTCCCCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/TCCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2321 m.5892T>TTTC 5892 T TTTC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/TTC heter - intergenic_variant - - MODIFIER insertion - - - - - 2322 m.5892T>TTTCC 5892 T TTTCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/TTCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2323 m.5892T>TTTCCCCCC 5892 T TTTCCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/TTCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2324 m.5892T>TTTCCCCCCC 5892 T TTTCCCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/TTCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2325 m.5892T>TTTTCCCCC 5892 T TTTTCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/TTTCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2326 m.5892T>TTTTCCCCCC 5892 T TTTTCCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/TTTCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2327 m.5892T>TTTTTCC 5892 T TTTTTCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/TTTTCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2328 m.5892T>TTTTTTTCCC 5892 T TTTTTTTCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/TTTTTTCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2329 m.5892T>TTTTTTTCCCC 5892 T TTTTTTTCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/TTTTTTCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2330 m.5892T>TTTTTTTCCCCC 5892 T TTTTTTTCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/TTTTTTCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2331 m.5892T>TTTTTTTCCCCCCC 5892 T TTTTTTTCCCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5893_-/TTTTTTCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2332 m.5893C>T 5893 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5893_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 2333 m.5894A>AC 5894 A AC 87 0.011973576 15 0.002064410 7266 0.014037985 MT_5895_-/C homo&heter - intergenic_variant - - MODIFIER insertion - - - - - 2334 m.5894A>ACC 5894 A ACC 3 0.000412882 13 0.001789155 7266 0.002202037 MT_5895_-/CC homo&heter - intergenic_variant - - MODIFIER insertion - - - - - 2335 m.5894A>ACCC 5894 A ACCC 0 0.000000000 5 0.000688137 7266 0.000688137 MT_5895_-/CCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2336 m.5894A>ACCCC 5894 A ACCCC 0 0.000000000 6 0.000825764 7266 0.000825764 MT_5895_-/CCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2337 m.5894A>ACCCCC 5894 A ACCCCC 0 0.000000000 2 0.000275255 7266 0.000275255 MT_5895_-/CCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2338 m.5894A>ACCCCCC 5894 A ACCCCCC 0 0.000000000 3 0.000412882 7266 0.000412882 MT_5895_-/CCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2339 m.5894A>ACCCCCCC 5894 A ACCCCCCC 0 0.000000000 12 0.001651528 7266 0.001651528 MT_5895_-/CCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2340 m.5894A>ACCCCCCCC 5894 A ACCCCCCCC 0 0.000000000 23 0.003165428 7266 0.003165428 MT_5895_-/CCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2341 m.5894A>ACCCCCCCCC 5894 A ACCCCCCCCC 0 0.000000000 15 0.002064410 7266 0.002064410 MT_5895_-/CCCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2342 m.5894A>ACCCCCCCCCC 5894 A ACCCCCCCCCC 0 0.000000000 14 0.001926782 7266 0.001926782 MT_5895_-/CCCCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2343 m.5894A>ACCCCCCCCCCC 5894 A ACCCCCCCCCCC 0 0.000000000 7 0.000963391 7266 0.000963391 MT_5895_-/CCCCCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2344 m.5894A>ACCCCCCCCCCCC 5894 A ACCCCCCCCCCCC 0 0.000000000 3 0.000412882 7266 0.000412882 MT_5895_-/CCCCCCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2345 m.5894A>ACCCCCCCCCCCCC 5894 A ACCCCCCCCCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5895_-/CCCCCCCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2346 m.5894A>ACCCCCCCCCCCCCC 5894 A ACCCCCCCCCCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5895_-/CCCCCCCCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2347 m.5894A>ACCCCCCCCCCCCCCCCCCC 5894 A ACCCCCCCCCCCCCCCCCCC 0 0.000000000 2 0.000275255 7266 0.000275255 MT_5895_-/CCCCCCCCCCCCCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2348 m.5894A>ACCCCCCCCCCCCCCCCCCCCCC 5894 A ACCCCCCCCCCCCCCCCCCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5895_-/CCCCCCCCCCCCCCCCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2349 m.5894A>ACCCCCCCCCCCCCCCCCCCCCCCC 5894 A ACCCCCCCCCCCCCCCCCCCCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5895_-/CCCCCCCCCCCCCCCCCCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 2350 m.5894A>C 5894 A C 18 0.002477291 11 0.001513900 7266 0.003991192 MT_5894_A/C homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 2351 m.5894A>G 5894 A G 77 0.010597303 0 0.000000000 7266 0.010597303 MT_5894_A/G homo - intergenic_variant - rs878860965 MODIFIER SNV - - - - - 2352 m.5894AC>A 5894 AC A 6 0.000825764 0 0.000000000 7266 0.000825764 MT_5895_C/- homo - intergenic_variant - - MODIFIER deletion - - - - - 2353 m.5895C>T 5895 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5895_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 2354 m.5896C>T 5896 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5896_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 2355 m.5899C>T 5899 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5899_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 2356 m.5910G>A 5910 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5910_G/A homo ENSG00000198804 missense_variant Gcc/Acc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.14) benign(0.021) - 2357 m.5911C>T 5911 C T 12 0.001651528 0 0.000000000 7266 0.001651528 MT_5911_C/T homo ENSG00000198804 missense_variant gCc/gTc rs879227822 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.34) benign(0) - 2358 m.5913G>A 5913 G A 50 0.006881365 1 0.000137627 7266 0.007018993 MT_5913_G/A homo&heter ENSG00000198804 missense_variant Gac/Aac rs201617272 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(1) benign(0) - 2359 m.5915C>T 5915 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5915_C/T homo ENSG00000198804 synonymous_variant gaC/gaT - LOW SNV MT-CO1 protein_coding - - - 2360 m.5918T>C 5918 T C 16 0.002202037 1 0.000137627 7266 0.002339664 MT_5918_T/C homo&heter ENSG00000198804 synonymous_variant cgT/cgC rs1556423045 LOW SNV MT-CO1 protein_coding - - - 2361 m.5922C>T 5922 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5922_C/T homo ENSG00000198804 synonymous_variant Cta/Tta rs1556423056 LOW SNV MT-CO1 protein_coding - - - 2362 m.5924A>G 5924 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5924_A/G homo ENSG00000198804 synonymous_variant ctA/ctG - LOW SNV MT-CO1 protein_coding - - - 2363 m.5930T>C 5930 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5930_T/C homo ENSG00000198804 synonymous_variant tcT/tcC - LOW SNV MT-CO1 protein_coding - - - 2364 m.5933A>T 5933 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5933_A/T homo ENSG00000198804 synonymous_variant acA/acT - LOW SNV MT-CO1 protein_coding - - - 2365 m.5942A>G 5942 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_5942_A/G homo ENSG00000198804 synonymous_variant aaA/aaG - LOW SNV MT-CO1 protein_coding - - - 2366 m.5948T>C 5948 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5948_T/C homo ENSG00000198804 synonymous_variant atT/atC - LOW SNV MT-CO1 protein_coding - - - 2367 m.5951A>G 5951 A G 66 0.009083402 1 0.000137627 7266 0.009221029 MT_5951_A/G homo&heter ENSG00000198804 synonymous_variant ggA/ggG rs7340122 LOW SNV MT-CO1 protein_coding - - benign/likely_benign 2368 m.5951A>T 5951 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5951_A/T homo ENSG00000198804 synonymous_variant ggA/ggT - LOW SNV MT-CO1 protein_coding - - - 2369 m.5954A>G 5954 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_5954_A/G homo&heter ENSG00000198804 synonymous_variant acA/acG - LOW SNV MT-CO1 protein_coding - - - 2370 m.5961C>T 5961 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5961_C/T homo ENSG00000198804 synonymous_variant Cta/Tta - LOW SNV MT-CO1 protein_coding - - - 2371 m.5963A>G 5963 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5963_A/G homo ENSG00000198804 synonymous_variant ctA/ctG - LOW SNV MT-CO1 protein_coding - - - 2372 m.5964T>C 5964 T C 59 0.008120011 0 0.000000000 7266 0.008120011 MT_5964_T/C homo ENSG00000198804 synonymous_variant Tta/Cta rs1556423058 LOW SNV MT-CO1 protein_coding - - - 2373 m.5970G>A 5970 G A 0 0.000000000 6 0.000825764 7266 0.000825764 MT_5970_G/A heter ENSG00000198804 missense_variant Ggc/Agc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) benign(0.188) - 2374 m.5972C>T 5972 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5972_C/T homo ENSG00000198804 synonymous_variant ggC/ggT - LOW SNV MT-CO1 protein_coding - - - 2375 m.5973G>A 5973 G A 2 0.000275255 2 0.000275255 7266 0.000550509 MT_5973_G/A homo&heter ENSG00000198804 missense_variant Gca/Aca rs1556423059 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.08) benign(0.007) - 2376 m.5978A>G 5978 A G 65 0.008945775 0 0.000000000 7266 0.008945775 MT_5978_A/G homo ENSG00000198804 synonymous_variant tgA/tgG rs386828981 LOW SNV MT-CO1 protein_coding - - - 2377 m.5979G>A 5979 G A 8 0.001101018 0 0.000000000 7266 0.001101018 MT_5979_G/A homo ENSG00000198804 missense_variant Gct/Act rs1556423060 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.03) probably_damaging(0.996) - 2378 m.5981T>C 5981 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_5981_T/C homo ENSG00000198804 synonymous_variant gcT/gcC - LOW SNV MT-CO1 protein_coding - - - 2379 m.5984A>G 5984 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_5984_A/G homo ENSG00000198804 synonymous_variant ggA/ggG rs370547097 LOW SNV MT-CO1 protein_coding - - - 2380 m.5985G>A 5985 G A 12 0.001651528 2 0.000275255 7266 0.001926782 MT_5985_G/A homo&heter ENSG00000198804 missense_variant Gtc/Atc rs386828982 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.04) benign(0.001) - 2381 m.5986T>C 5986 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_5986_T/C heter ENSG00000198804 missense_variant gTc/gCc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.02) benign(0) - 2382 m.5987C>T 5987 C T 21 0.002890173 0 0.000000000 7266 0.002890173 MT_5987_C/T homo ENSG00000198804 synonymous_variant gtC/gtT - LOW SNV MT-CO1 protein_coding - - - 2383 m.5988C>T 5988 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_5988_C/T homo ENSG00000198804 synonymous_variant Cta/Tta rs1556423064 LOW SNV MT-CO1 protein_coding - - - 2384 m.5990A>G 5990 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5990_A/G homo ENSG00000198804 synonymous_variant ctA/ctG - LOW SNV MT-CO1 protein_coding - - - 2385 m.5993C>T 5993 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_5993_C/T homo ENSG00000198804 synonymous_variant ggC/ggT - LOW SNV MT-CO1 protein_coding - - - 2386 m.5997G>T 5997 G T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_5997_G/T homo ENSG00000198804 missense_variant Gct/Tct - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.91) probably_damaging(0.996) - 2387 m.5999T>C 5999 T C 37 0.005092210 0 0.000000000 7266 0.005092210 MT_5999_T/C homo ENSG00000198804 synonymous_variant gcT/gcC rs879118820 LOW SNV MT-CO1 protein_coding - - - 2388 m.6001T>C 6001 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6001_T/C heter ENSG00000198804 missense_variant cTa/cCa - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.953) - 2389 m.6004G>A 6004 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6004_G/A heter ENSG00000198804 missense_variant aGc/aAc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.966) - 2390 m.6005C>T 6005 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6005_C/T homo ENSG00000198804 synonymous_variant agC/agT - LOW SNV MT-CO1 protein_coding - - - 2391 m.6008C>T 6008 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6008_C/T homo ENSG00000198804 synonymous_variant ctC/ctT - LOW SNV MT-CO1 protein_coding - - - 2392 m.6011T>C 6011 T C 9 0.001238646 1 0.000137627 7266 0.001376273 MT_6011_T/C homo&heter ENSG00000198804 synonymous_variant ctT/ctC - LOW SNV MT-CO1 protein_coding - - - 2393 m.6014T>C 6014 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_6014_T/C homo ENSG00000198804 synonymous_variant atT/atC - LOW SNV MT-CO1 protein_coding - - - 2394 m.6018G>A 6018 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6018_G/A homo ENSG00000198804 missense_variant Gcc/Acc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.31) benign(0.03) - 2395 m.6020C>T 6020 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6020_C/T homo ENSG00000198804 synonymous_variant gcC/gcT - LOW SNV MT-CO1 protein_coding - - - 2396 m.6023G>A 6023 G A 70 0.009633911 1 0.000137627 7266 0.009771539 MT_6023_G/A homo&heter ENSG00000198804 synonymous_variant gaG/gaA - LOW SNV MT-CO1 protein_coding - - - 2397 m.6026G>A 6026 G A 77 0.010597303 0 0.000000000 7266 0.010597303 MT_6026_G/A homo ENSG00000198804 synonymous_variant ctG/ctA rs879112886 LOW SNV MT-CO1 protein_coding - - - 2398 m.6028G>C 6028 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6028_G/C heter ENSG00000198804 missense_variant gGc/gCc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.11) probably_damaging(0.999) - 2399 m.6029C>T 6029 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6029_C/T homo ENSG00000198804 synonymous_variant ggC/ggT - LOW SNV MT-CO1 protein_coding - - - 2400 m.6032G>A 6032 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6032_G/A homo ENSG00000198804 synonymous_variant caG/caA rs879184483 LOW SNV MT-CO1 protein_coding - - - 2401 m.6035A>G 6035 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6035_A/G homo ENSG00000198804 synonymous_variant ccA/ccG - LOW SNV MT-CO1 protein_coding - - - 2402 m.6037G>A 6037 G A 0 0.000000000 3 0.000412882 7266 0.000412882 MT_6037_G/A heter ENSG00000198804 missense_variant gGc/gAc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 2403 m.6040A>C 6040 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6040_A/C homo ENSG00000198804 missense_variant aAc/aCc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.35) benign(0) - 2404 m.6040A>G 6040 A G 13 0.001789155 2 0.000275255 7266 0.002064410 MT_6040_A/G homo&heter ENSG00000198804 missense_variant aAc/aGc rs1556423072 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(1) benign(0) - 2405 m.6041C>T 6041 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6041_C/T homo ENSG00000198804 synonymous_variant aaC/aaT - LOW SNV MT-CO1 protein_coding - - - 2406 m.6042C>T 6042 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6042_C/T homo ENSG00000198804 missense_variant Ctt/Ttt rs878930535 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.2) benign(0.039) - 2407 m.6044T>C 6044 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_6044_T/C homo ENSG00000198804 synonymous_variant ctT/ctC - LOW SNV MT-CO1 protein_coding - - - 2408 m.6045C>T 6045 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_6045_C/T homo ENSG00000198804 synonymous_variant Cta/Tta rs879061193 LOW SNV MT-CO1 protein_coding - - - 2409 m.6047A>G 6047 A G 26 0.003578310 0 0.000000000 7266 0.003578310 MT_6047_A/G homo ENSG00000198804 synonymous_variant ctA/ctG rs879104796 LOW SNV MT-CO1 protein_coding - - - 2410 m.6050T>C 6050 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_6050_T/C homo ENSG00000198804 synonymous_variant ggT/ggC - LOW SNV MT-CO1 protein_coding - - - 2411 m.6052A>G 6052 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6052_A/G homo ENSG00000198804 missense_variant aAc/aGc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.06) benign(0.001) - 2412 m.6053C>T 6053 C T 13 0.001789155 0 0.000000000 7266 0.001789155 MT_6053_C/T homo ENSG00000198804 synonymous_variant aaC/aaT rs1556423076 LOW SNV MT-CO1 protein_coding - - - 2413 m.6054G>A 6054 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6054_G/A heter ENSG00000198804 missense_variant Gac/Aac rs1569484049 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.997) uncertain_significance 2414 m.6056C>T 6056 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6056_C/T homo ENSG00000198804 synonymous_variant gaC/gaT - LOW SNV MT-CO1 protein_coding - - - 2415 m.6060A>C 6060 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6060_A/C homo ENSG00000198804 missense_variant Atc/Ctc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.13) benign(0.07) - 2416 m.6060A>G 6060 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_6060_A/G homo&heter ENSG00000198804 missense_variant Atc/Gtc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.02) benign(0.001) - 2417 m.6061T>C 6061 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_6061_T/C homo&heter ENSG00000198804 missense_variant aTc/aCc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.05) possibly_damaging(0.515) - 2418 m.6062C>T 6062 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6062_C/T homo ENSG00000198804 synonymous_variant atC/atT rs28588648 LOW SNV MT-CO1 protein_coding - - - 2419 m.6063T>C 6063 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6063_T/C heter ENSG00000198804 missense_variant Tac/Cac - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.932) - 2420 m.6065C>T 6065 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6065_C/T homo ENSG00000198804 synonymous_variant taC/taT - LOW SNV MT-CO1 protein_coding - - - 2421 m.6068C>T 6068 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6068_C/T homo ENSG00000198804 synonymous_variant aaC/aaT - LOW SNV MT-CO1 protein_coding - - - 2422 m.6071T>C 6071 T C 56 0.007707129 0 0.000000000 7266 0.007707129 MT_6071_T/C homo ENSG00000198804 synonymous_variant gtT/gtC rs7340086 LOW SNV MT-CO1 protein_coding - - benign/likely_benign 2423 m.6074C>T 6074 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6074_C/T homo ENSG00000198804 synonymous_variant atC/atT - LOW SNV MT-CO1 protein_coding - - - 2424 m.6075G>A 6075 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6075_G/A homo ENSG00000198804 missense_variant Gtc/Atc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.04) benign(0.005) - 2425 m.6077C>T 6077 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6077_C/T heter ENSG00000198804 synonymous_variant gtC/gtT rs1556423080 LOW SNV MT-CO1 protein_coding - - - 2426 m.6080A>G 6080 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6080_A/G homo ENSG00000198804 synonymous_variant acA/acG rs1556423081 LOW SNV MT-CO1 protein_coding - - - 2427 m.6081G>A 6081 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6081_G/A heter ENSG00000198804 missense_variant Gcc/Acc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.02) benign(0.255) - 2428 m.6086T>C 6086 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6086_T/C homo ENSG00000198804 synonymous_variant caT/caC - LOW SNV MT-CO1 protein_coding - - - 2429 m.6090T>C 6090 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6090_T/C heter ENSG00000198804 missense_variant Ttt/Ctt - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.06) probably_damaging(0.993) - 2430 m.6091T>C 6091 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6091_T/C heter ENSG00000198804 missense_variant tTt/tCt - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 2431 m.6092T>C 6092 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_6092_T/C homo ENSG00000198804 synonymous_variant ttT/ttC - LOW SNV MT-CO1 protein_coding - - - 2432 m.6098A>G 6098 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6098_A/G homo ENSG00000198804 synonymous_variant atA/atG - LOW SNV MT-CO1 protein_coding - - - 2433 m.6101C>T 6101 C T 2 0.000275255 1 0.000137627 7266 0.000412882 MT_6101_C/T homo&heter ENSG00000198804 synonymous_variant atC/atT - LOW SNV MT-CO1 protein_coding - - - 2434 m.6110A>G 6110 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6110_A/G homo ENSG00000198804 synonymous_variant atA/atG - LOW SNV MT-CO1 protein_coding - - - 2435 m.6112T>C 6112 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6112_T/C homo ENSG00000198804 missense_variant gTa/gCa - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.998) - 2436 m.6113A>G 6113 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6113_A/G homo ENSG00000198804 synonymous_variant gtA/gtG - LOW SNV MT-CO1 protein_coding - - - 2437 m.6116A>G 6116 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_6116_A/G homo ENSG00000198804 synonymous_variant atA/atG - LOW SNV MT-CO1 protein_coding - - - 2438 m.6119C>T 6119 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6119_C/T homo ENSG00000198804 synonymous_variant ccC/ccT - LOW SNV MT-CO1 protein_coding - - - 2439 m.6120A>G 6120 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_6120_A/G homo ENSG00000198804 missense_variant Atc/Gtc rs878853023 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.15) possibly_damaging(0.904) uncertain_significance 2440 m.6121T>C 6121 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_6121_T/C heter ENSG00000198804 missense_variant aTc/aCc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.997) - 2441 m.6122C>T 6122 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_6122_C/T homo&heter ENSG00000198804 synonymous_variant atC/atT - LOW SNV MT-CO1 protein_coding - - - 2442 m.6125A>G 6125 A G 20 0.002752546 0 0.000000000 7266 0.002752546 MT_6125_A/G homo ENSG00000198804 synonymous_variant atA/atG - LOW SNV MT-CO1 protein_coding - - - 2443 m.6125A>T 6125 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6125_A/T heter ENSG00000198804 missense_variant atA/atT - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.95) - 2444 m.6131A>G 6131 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6131_A/G homo ENSG00000198804 synonymous_variant ggA/ggG - LOW SNV MT-CO1 protein_coding - - - 2445 m.6137T>C 6137 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6137_T/C homo ENSG00000198804 synonymous_variant ttT/ttC - LOW SNV MT-CO1 protein_coding - - - 2446 m.6138G>A 6138 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6138_G/A heter ENSG00000198804 missense_variant Ggc/Agc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 2447 m.6146A>G 6146 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_6146_A/G homo ENSG00000198804 synonymous_variant tgA/tgG rs1556423085 LOW SNV MT-CO1 protein_coding - - - 2448 m.6149A>G 6149 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6149_A/G homo ENSG00000198804 synonymous_variant ctA/ctG - LOW SNV MT-CO1 protein_coding - - - 2449 m.6150G>A 6150 G A 28 0.003853565 0 0.000000000 7266 0.003853565 MT_6150_G/A homo ENSG00000198804 missense_variant Gtt/Att rs879053914 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.25) benign(0.001) - 2450 m.6152T>C 6152 T C 22 0.003027801 1 0.000137627 7266 0.003165428 MT_6152_T/C homo&heter ENSG00000198804 synonymous_variant gtT/gtC rs1556423086 LOW SNV MT-CO1 protein_coding - - - 2451 m.6156C>T 6156 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_6156_C/T homo ENSG00000198804 synonymous_variant Cta/Tta - LOW SNV MT-CO1 protein_coding - - - 2452 m.6164C>T 6164 C T 20 0.002752546 0 0.000000000 7266 0.002752546 MT_6164_C/T homo ENSG00000198804 synonymous_variant atC/atT rs1556423087 LOW SNV MT-CO1 protein_coding - - - 2453 m.6167T>C 6167 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_6167_T/C homo ENSG00000198804 synonymous_variant ggT/ggC - LOW SNV MT-CO1 protein_coding - - - 2454 m.6167T>G 6167 T G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6167_T/G homo ENSG00000198804 synonymous_variant ggT/ggG - LOW SNV MT-CO1 protein_coding - - - 2455 m.6170C>T 6170 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6170_C/T homo ENSG00000198804 synonymous_variant gcC/gcT - LOW SNV MT-CO1 protein_coding - - - 2456 m.6173C>T 6173 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6173_C/T homo ENSG00000198804 synonymous_variant ccC/ccT rs1556423089 LOW SNV MT-CO1 protein_coding - - - 2457 m.6176T>C 6176 T C 8 0.001101018 3 0.000412882 7266 0.001513900 MT_6176_T/C homo&heter ENSG00000198804 synonymous_variant gaT/gaC - LOW SNV MT-CO1 protein_coding - - - 2458 m.6177A>G 6177 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6177_A/G heter ENSG00000198804 missense_variant Atg/Gtg - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.919) - 2459 m.6179G>A 6179 G A 149 0.020506468 0 0.000000000 7266 0.020506468 MT_6179_G/A homo ENSG00000198804 synonymous_variant atG/atA rs374303341 LOW SNV MT-CO1 protein_coding - - - 2460 m.6182G>A 6182 G A 8 0.001101018 1 0.000137627 7266 0.001238646 MT_6182_G/A homo&heter ENSG00000198804 synonymous_variant gcG/gcA rs372603549 LOW SNV MT-CO1 protein_coding - - - 2461 m.6185T>C 6185 T C 67 0.009221029 1 0.000137627 7266 0.009358657 MT_6185_T/C homo&heter ENSG00000198804 synonymous_variant ttT/ttC rs1029272 LOW SNV MT-CO1 protein_coding - - - 2462 m.6191C>T 6191 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6191_C/T homo ENSG00000198804 synonymous_variant cgC/cgT - LOW SNV MT-CO1 protein_coding - - - 2463 m.6194A>G 6194 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_6194_A/G homo ENSG00000198804 synonymous_variant atA/atG - LOW SNV MT-CO1 protein_coding - - - 2464 m.6200C>T 6200 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6200_C/T homo ENSG00000198804 synonymous_variant aaC/aaT - LOW SNV MT-CO1 protein_coding - - - 2465 m.6206C>T 6206 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6206_C/T homo ENSG00000198804 synonymous_variant agC/agT - LOW SNV MT-CO1 protein_coding - - - 2466 m.6209C>T 6209 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6209_C/T homo ENSG00000198804 synonymous_variant ttC/ttT - LOW SNV MT-CO1 protein_coding - - - 2467 m.6211G>A 6211 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6211_G/A heter ENSG00000198804 stop_gained tGa/tAa - HIGH SNV MT-CO1 protein_coding - - - 2468 m.6216T>C 6216 T C 55 0.007569502 3 0.000412882 7266 0.007982384 MT_6216_T/C homo&heter ENSG00000198804 synonymous_variant Tta/Cta rs367837524 LOW SNV MT-CO1 protein_coding - - - 2469 m.6218A>G 6218 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_6218_A/G homo&heter ENSG00000198804 synonymous_variant ttA/ttG - LOW SNV MT-CO1 protein_coding - - - 2470 m.6221T>A 6221 T A 16 0.002202037 0 0.000000000 7266 0.002202037 MT_6221_T/A homo ENSG00000198804 synonymous_variant ccT/ccA - LOW SNV MT-CO1 protein_coding - - - 2471 m.6221T>C 6221 T C 144 0.019818332 0 0.000000000 7266 0.019818332 MT_6221_T/C homo ENSG00000198804 synonymous_variant ccT/ccC rs370472320 LOW SNV MT-CO1 protein_coding - - - 2472 m.6227T>C 6227 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_6227_T/C homo ENSG00000198804 synonymous_variant tcT/tcC rs1556423092 LOW SNV MT-CO1 protein_coding - - - 2473 m.6228C>T 6228 C T 29 0.003991192 1 0.000137627 7266 0.004128819 MT_6228_C/T homo&heter ENSG00000198804 missense_variant Ctc/Ttc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.57) benign(0.003) - 2474 m.6231C>T 6231 C T 14 0.001926782 0 0.000000000 7266 0.001926782 MT_6231_C/T homo ENSG00000198804 synonymous_variant Cta/Tta - LOW SNV MT-CO1 protein_coding - - - 2475 m.6232T>C 6232 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6232_T/C heter ENSG00000198804 missense_variant cTa/cCa - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.999) - 2476 m.6233A>G 6233 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6233_A/G homo ENSG00000198804 synonymous_variant ctA/ctG - LOW SNV MT-CO1 protein_coding - - - 2477 m.6239G>A 6239 G A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6239_G/A homo ENSG00000198804 synonymous_variant ctG/ctA - LOW SNV MT-CO1 protein_coding - - - 2478 m.6241T>C 6241 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6241_T/C heter ENSG00000198804 missense_variant cTc/cCc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) possibly_damaging(0.839) - 2479 m.6242C>T 6242 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6242_C/T homo ENSG00000198804 synonymous_variant ctC/ctT - LOW SNV MT-CO1 protein_coding - - - 2480 m.6245A>G 6245 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6245_A/G homo ENSG00000198804 synonymous_variant gcA/gcG - LOW SNV MT-CO1 protein_coding - - - 2481 m.6248T>C 6248 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_6248_T/C homo ENSG00000198804 synonymous_variant tcT/tcC rs879223474 LOW SNV MT-CO1 protein_coding - - - 2482 m.6249G>A 6249 G A 11 0.001513900 0 0.000000000 7266 0.001513900 MT_6249_G/A homo ENSG00000198804 missense_variant Gct/Act rs1556423095 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.03) benign(0.003) - 2483 m.6250C>T 6250 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6250_C/T homo ENSG00000198804 missense_variant gCt/gTt - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) benign(0.116) - 2484 m.6251T>C 6251 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_6251_T/C homo&heter ENSG00000198804 synonymous_variant gcT/gcC - LOW SNV MT-CO1 protein_coding - - - 2485 m.6253T>C 6253 T C 105 0.014450867 0 0.000000000 7266 0.014450867 MT_6253_T/C homo ENSG00000198804 missense_variant aTa/aCa rs200165736 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.57) benign(0) - 2486 m.6254A>G 6254 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_6254_A/G homo ENSG00000198804 synonymous_variant atA/atG - LOW SNV MT-CO1 protein_coding - - - 2487 m.6255G>A 6255 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6255_G/A heter ENSG00000198804 missense_variant Gtg/Atg - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.02) possibly_damaging(0.622) - 2488 m.6256T>C 6256 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6256_T/C heter ENSG00000198804 missense_variant gTg/gCg - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.02) benign(0.411) - 2489 m.6257G>A 6257 G A 6 0.000825764 0 0.000000000 7266 0.000825764 MT_6257_G/A homo ENSG00000198804 synonymous_variant gtG/gtA rs2856983 LOW SNV MT-CO1 protein_coding - - - 2490 m.6259A>G 6259 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_6259_A/G homo&heter ENSG00000198804 missense_variant gAg/gGg - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.996) - 2491 m.6260G>A 6260 G A 44 0.006055601 2 0.000275255 7266 0.006330856 MT_6260_G/A homo&heter ENSG00000198804 synonymous_variant gaG/gaA rs201395766 LOW SNV MT-CO1 protein_coding - - benign/likely_benign 2492 m.6260G>T 6260 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6260_G/T homo ENSG00000198804 missense_variant gaG/gaT - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.08) probably_damaging(0.963) - 2493 m.6261G>A 6261 G A 24 0.003303055 1 0.000137627 7266 0.003440683 MT_6261_G/A homo&heter ENSG00000198804 missense_variant Gcc/Acc rs201262114 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.23) probably_damaging(0.992) benign/likely_benign,benign 2494 m.6263C>T 6263 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6263_C/T homo ENSG00000198804 synonymous_variant gcC/gcT - LOW SNV MT-CO1 protein_coding - - - 2495 m.6266A>G 6266 A G 9 0.001238646 1 0.000137627 7266 0.001376273 MT_6266_A/G homo&heter ENSG00000198804 synonymous_variant ggA/ggG rs878974627 LOW SNV MT-CO1 protein_coding - - - 2496 m.6267G>A 6267 G A 22 0.003027801 0 0.000000000 7266 0.003027801 MT_6267_G/A homo ENSG00000198804 missense_variant Gca/Aca rs202216551 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.03) benign(0.014) - 2497 m.6270G>A 6270 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6270_G/A heter ENSG00000198804 stop_gained Gga/Aga - HIGH SNV MT-CO1 protein_coding - - - 2498 m.6272A>G 6272 A G 13 0.001789155 0 0.000000000 7266 0.001789155 MT_6272_A/G homo ENSG00000198804 synonymous_variant ggA/ggG rs879235702 LOW SNV MT-CO1 protein_coding - - - 2499 m.6284A>G 6284 A G 5 0.000688137 1 0.000137627 7266 0.000825764 MT_6284_A/G homo&heter ENSG00000198804 synonymous_variant acA/acG rs1569484065 LOW SNV MT-CO1 protein_coding - - - 2500 m.6285G>A 6285 G A 5 0.000688137 1 0.000137627 7266 0.000825764 MT_6285_G/A homo&heter ENSG00000198804 missense_variant Gtc/Atc rs878947044 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.04) benign(0.044) - 2501 m.6286T>C 6286 T C 7 0.000963391 1 0.000137627 7266 0.001101018 MT_6286_T/C homo&heter ENSG00000198804 missense_variant gTc/gCc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) possibly_damaging(0.457) - 2502 m.6287C>T 6287 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6287_C/T homo ENSG00000198804 synonymous_variant gtC/gtT rs1556423107 LOW SNV MT-CO1 protein_coding - - - 2503 m.6290C>T 6290 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_6290_C/T homo ENSG00000198804 synonymous_variant taC/taT rs878957800 LOW SNV MT-CO1 protein_coding - - - 2504 m.6293T>C 6293 T C 32 0.004404074 2 0.000275255 7266 0.004679328 MT_6293_T/C homo&heter ENSG00000198804 synonymous_variant ccT/ccC rs879224746 LOW SNV MT-CO1 protein_coding - - - 2505 m.6296C>T 6296 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6296_C/T homo ENSG00000198804 synonymous_variant ccC/ccT rs1556423111 LOW SNV MT-CO1 protein_coding - - - 2506 m.6297T>C 6297 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_6297_T/C homo ENSG00000198804 synonymous_variant Tta/Cta rs878886011 LOW SNV MT-CO1 protein_coding - - - 2507 m.6299A>G 6299 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6299_A/G homo ENSG00000198804 synonymous_variant ttA/ttG rs1057520195 LOW SNV MT-CO1 protein_coding - - uncertain_significance 2508 m.6302A>G 6302 A G 11 0.001513900 0 0.000000000 7266 0.001513900 MT_6302_A/G homo ENSG00000198804 synonymous_variant gcA/gcG - LOW SNV MT-CO1 protein_coding - - - 2509 m.6305G>A 6305 G A 8 0.001101018 0 0.000000000 7266 0.001101018 MT_6305_G/A homo ENSG00000198804 synonymous_variant ggG/ggA rs879141792 LOW SNV MT-CO1 protein_coding - - - 2510 m.6308C>T 6308 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6308_C/T homo ENSG00000198804 synonymous_variant aaC/aaT rs1029293 LOW SNV MT-CO1 protein_coding - - - 2511 m.6311C>T 6311 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_6311_C/T homo ENSG00000198804 synonymous_variant taC/taT - LOW SNV MT-CO1 protein_coding - - - 2512 m.6320T>A 6320 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6320_T/A homo ENSG00000198804 synonymous_variant ccT/ccA - LOW SNV MT-CO1 protein_coding - - - 2513 m.6320T>C 6320 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_6320_T/C homo ENSG00000198804 synonymous_variant ccT/ccC - LOW SNV MT-CO1 protein_coding - - - 2514 m.6323A>G 6323 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6323_A/G homo ENSG00000198804 synonymous_variant ggA/ggG rs879205114 LOW SNV MT-CO1 protein_coding - - - 2515 m.6324G>A 6324 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6324_G/A heter ENSG00000198804 missense_variant Gcc/Acc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.03) possibly_damaging(0.466) - 2516 m.6326C>T 6326 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6326_C/T homo ENSG00000198804 synonymous_variant gcC/gcT - LOW SNV MT-CO1 protein_coding - - - 2517 m.6332A>G 6332 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6332_A/G homo ENSG00000198804 synonymous_variant gtA/gtG - LOW SNV MT-CO1 protein_coding - - - 2518 m.6333G>A 6333 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_6333_G/A heter ENSG00000198804 missense_variant Gac/Aac - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.997) - 2519 m.6335C>T 6335 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6335_C/T heter ENSG00000198804 synonymous_variant gaC/gaT - LOW SNV MT-CO1 protein_coding - - - 2520 m.6338A>G 6338 A G 111 0.015276631 0 0.000000000 7266 0.015276631 MT_6338_A/G homo ENSG00000198804 synonymous_variant ctA/ctG - LOW SNV MT-CO1 protein_coding - - - 2521 m.6339A>G 6339 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6339_A/G homo ENSG00000198804 missense_variant Acc/Gcc rs1556423119 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(1) benign(0.069) - 2522 m.6340C>T 6340 C T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_6340_C/T homo ENSG00000198804 missense_variant aCc/aTc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.02) benign(0.088) - 2523 m.6341C>G 6341 C G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6341_C/G homo ENSG00000198804 synonymous_variant acC/acG - LOW SNV MT-CO1 protein_coding - - - 2524 m.6347C>T 6347 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6347_C/T homo ENSG00000198804 synonymous_variant ttC/ttT - LOW SNV MT-CO1 protein_coding - - - 2525 m.6351T>C 6351 T C 5 0.000688137 2 0.000275255 7266 0.000963391 MT_6351_T/C homo&heter ENSG00000198804 synonymous_variant Tta/Cta - LOW SNV MT-CO1 protein_coding - - - 2526 m.6353A>G 6353 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6353_A/G homo ENSG00000198804 synonymous_variant ttA/ttG - LOW SNV MT-CO1 protein_coding - - - 2527 m.6357C>T 6357 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6357_C/T homo ENSG00000198804 synonymous_variant Cta/Tta rs1556423122 LOW SNV MT-CO1 protein_coding - - - 2528 m.6359A>G 6359 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_6359_A/G homo ENSG00000198804 synonymous_variant ctA/ctG rs1556423124 LOW SNV MT-CO1 protein_coding - - - 2529 m.6361C>T 6361 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6361_C/T heter ENSG00000198804 missense_variant gCa/gTa - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.996) - 2530 m.6362A>G 6362 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_6362_A/G homo&heter ENSG00000198804 synonymous_variant gcA/gcG - LOW SNV MT-CO1 protein_coding - - - 2531 m.6365T>C 6365 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_6365_T/C homo ENSG00000198804 synonymous_variant ggT/ggC rs1556423125 LOW SNV MT-CO1 protein_coding - - - 2532 m.6366G>A 6366 G A 23 0.003165428 1 0.000137627 7266 0.003303055 MT_6366_G/A homo&heter ENSG00000198804 missense_variant Gtc/Atc rs370673798 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.8) benign(0) - 2533 m.6368C>A 6368 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6368_C/A homo ENSG00000198804 synonymous_variant gtC/gtA - LOW SNV MT-CO1 protein_coding - - - 2534 m.6368C>T 6368 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6368_C/T homo ENSG00000198804 synonymous_variant gtC/gtT - LOW SNV MT-CO1 protein_coding - - - 2535 m.6371C>T 6371 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_6371_C/T homo ENSG00000198804 synonymous_variant tcC/tcT rs878870695 LOW SNV MT-CO1 protein_coding - - - 2536 m.6374T>C 6374 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6374_T/C heter ENSG00000198804 synonymous_variant tcT/tcC rs1556423128 LOW SNV MT-CO1 protein_coding - - - 2537 m.6375A>G 6375 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6375_A/G homo ENSG00000198804 missense_variant Atc/Gtc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) possibly_damaging(0.843) - 2538 m.6378T>C 6378 T C 14 0.001926782 0 0.000000000 7266 0.001926782 MT_6378_T/C homo ENSG00000198804 synonymous_variant Tta/Cta - LOW SNV MT-CO1 protein_coding - - - 2539 m.6383G>A 6383 G A 4 0.000550509 1 0.000137627 7266 0.000688137 MT_6383_G/A homo&heter ENSG00000198804 synonymous_variant ggG/ggA rs1041840 LOW SNV MT-CO1 protein_coding - - - 2540 m.6384G>A 6384 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6384_G/A heter ENSG00000198804 missense_variant Gcc/Acc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 2541 m.6386C>T 6386 C T 14 0.001926782 0 0.000000000 7266 0.001926782 MT_6386_C/T homo ENSG00000198804 synonymous_variant gcC/gcT - LOW SNV MT-CO1 protein_coding - - - 2542 m.6392T>C 6392 T C 733 0.100880815 1 0.000137627 7266 0.101018442 MT_6392_T/C homo&heter ENSG00000198804 synonymous_variant aaT/aaC rs376513041 LOW SNV MT-CO1 protein_coding - - - 2543 m.6395C>T 6395 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_6395_C/T homo ENSG00000198804 synonymous_variant ttC/ttT - LOW SNV MT-CO1 protein_coding - - - 2544 m.6398C>T 6398 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6398_C/T homo ENSG00000198804 synonymous_variant atC/atT - LOW SNV MT-CO1 protein_coding - - - 2545 m.6401A>G 6401 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6401_A/G homo ENSG00000198804 synonymous_variant acA/acG rs375620468 LOW SNV MT-CO1 protein_coding - - - 2546 m.6407T>C 6407 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6407_T/C homo ENSG00000198804 synonymous_variant atT/atC - LOW SNV MT-CO1 protein_coding - - - 2547 m.6408A>G 6408 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6408_A/G homo ENSG00000198804 missense_variant Atc/Gtc rs1556423133 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.03) benign(0) - 2548 m.6410C>T 6410 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_6410_C/T homo ENSG00000198804 synonymous_variant atC/atT - LOW SNV MT-CO1 protein_coding - - - 2549 m.6413T>C 6413 T C 81 0.011147812 0 0.000000000 7266 0.011147812 MT_6413_T/C homo ENSG00000198804 synonymous_variant aaT/aaC rs28665937 LOW SNV MT-CO1 protein_coding - - - 2550 m.6419A>G 6419 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6419_A/G homo ENSG00000198804 synonymous_variant aaA/aaG - LOW SNV MT-CO1 protein_coding - - - 2551 m.6422C>A 6422 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6422_C/A homo ENSG00000198804 synonymous_variant ccC/ccA - LOW SNV MT-CO1 protein_coding - - - 2552 m.6422C>T 6422 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6422_C/T homo ENSG00000198804 synonymous_variant ccC/ccT - LOW SNV MT-CO1 protein_coding - - - 2553 m.6426G>A 6426 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_6426_G/A heter ENSG00000198804 missense_variant Gcc/Acc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.06) probably_damaging(0.998) - 2554 m.6431A>G 6431 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6431_A/G homo ENSG00000198804 synonymous_variant atA/atG - LOW SNV MT-CO1 protein_coding - - - 2555 m.6437A>G 6437 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6437_A/G homo ENSG00000198804 synonymous_variant caA/caG - LOW SNV MT-CO1 protein_coding - - - 2556 m.6438T>C 6438 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_6438_T/C heter ENSG00000198804 missense_variant Tac/Cac - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.2) probably_damaging(0.998) - 2557 m.6445C>T 6445 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6445_C/T homo ENSG00000198804 missense_variant aCg/aTg rs879164161 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.71) benign(0.124) - 2558 m.6446G>A 6446 G A 47 0.006468483 1 0.000137627 7266 0.006606111 MT_6446_G/A homo&heter ENSG00000198804 synonymous_variant acG/acA rs386420010 LOW SNV MT-CO1 protein_coding - - - 2559 m.6452C>T 6452 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_6452_C/T homo ENSG00000198804 synonymous_variant ctC/ctT - LOW SNV MT-CO1 protein_coding - - - 2560 m.6455C>T 6455 C T 387 0.053261767 0 0.000000000 7266 0.053261767 MT_6455_C/T homo ENSG00000198804 synonymous_variant ttC/ttT rs28516468 LOW SNV MT-CO1 protein_coding - - - 2561 m.6456G>A 6456 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6456_G/A homo ENSG00000198804 missense_variant Gtc/Atc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.06) benign(0.007) - 2562 m.6458C>T 6458 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6458_C/T homo ENSG00000198804 synonymous_variant gtC/gtT - LOW SNV MT-CO1 protein_coding - - - 2563 m.6461A>G 6461 A G 12 0.001651528 0 0.000000000 7266 0.001651528 MT_6461_A/G homo ENSG00000198804 synonymous_variant tgA/tgG rs879168265 LOW SNV MT-CO1 protein_coding - - - 2564 m.6464C>T 6464 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_6464_C/T homo ENSG00000198804 synonymous_variant tcC/tcT - LOW SNV MT-CO1 protein_coding - - - 2565 m.6465G>A 6465 G A 3 0.000412882 1 0.000137627 7266 0.000550509 MT_6465_G/A homo&heter ENSG00000198804 missense_variant Gtc/Atc rs28414181 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.08) benign(0.007) - 2566 m.6466T>C 6466 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6466_T/C heter ENSG00000198804 missense_variant gTc/gCc rs1556423139 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) possibly_damaging(0.548) - 2567 m.6467C>T 6467 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6467_C/T homo ENSG00000198804 synonymous_variant gtC/gtT - LOW SNV MT-CO1 protein_coding - - - 2568 m.6473C>T 6473 C T 137 0.018854941 0 0.000000000 7266 0.018854941 MT_6473_C/T homo ENSG00000198804 synonymous_variant atC/atT rs1029294 LOW SNV MT-CO1 protein_coding - - - 2569 m.6475C>T 6475 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6475_C/T heter ENSG00000198804 missense_variant aCa/aTa - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 2570 m.6476A>G 6476 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6476_A/G homo ENSG00000198804 synonymous_variant acA/acG - LOW SNV MT-CO1 protein_coding - - - 2571 m.6480G>A 6480 G A 20 0.002752546 4 0.000550509 7266 0.003303055 MT_6480_G/A homo&heter ENSG00000198804 missense_variant Gtc/Atc rs199476128 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.88) benign(0) benign,pathogenic 2572 m.6481T>C 6481 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_6481_T/C homo ENSG00000198804 missense_variant gTc/gCc rs28721398 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) benign(0.2) - 2573 m.6482C>T 6482 C T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_6482_C/T homo ENSG00000198804 synonymous_variant gtC/gtT rs368618559 LOW SNV MT-CO1 protein_coding - - - 2574 m.6485A>G 6485 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_6485_A/G homo ENSG00000198804 synonymous_variant ctA/ctG - LOW SNV MT-CO1 protein_coding - - - 2575 m.6488T>C 6488 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6488_T/C homo ENSG00000198804 synonymous_variant ctT/ctC - LOW SNV MT-CO1 protein_coding - - - 2576 m.6489C>A 6489 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6489_C/A homo ENSG00000198804 missense_variant Ctc/Atc rs28461189 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.996) benign,pathogenic 2577 m.6491C>A 6491 C A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6491_C/A homo ENSG00000198804 synonymous_variant ctC/ctA rs1569484080 LOW SNV MT-CO1 protein_coding - - - 2578 m.6491C>T 6491 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6491_C/T homo ENSG00000198804 synonymous_variant ctC/ctT - LOW SNV MT-CO1 protein_coding - - - 2579 m.6492C>A 6492 C A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6492_C/A heter ENSG00000198804 missense_variant Cta/Ata - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.996) - 2580 m.6492C>T 6492 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6492_C/T homo ENSG00000198804 synonymous_variant Cta/Tta - LOW SNV MT-CO1 protein_coding - - - 2581 m.6494A>G 6494 A G 4 0.000550509 2 0.000275255 7266 0.000825764 MT_6494_A/G homo&heter ENSG00000198804 synonymous_variant ctA/ctG rs878937838 LOW SNV MT-CO1 protein_coding - - - 2582 m.6497T>C 6497 T C 11 0.001513900 0 0.000000000 7266 0.001513900 MT_6497_T/C homo ENSG00000198804 synonymous_variant tcT/tcC rs1556423143 LOW SNV MT-CO1 protein_coding - - - 2583 m.6503A>C 6503 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6503_A/C homo ENSG00000198804 synonymous_variant ccA/ccC - LOW SNV MT-CO1 protein_coding - - - 2584 m.6503A>T 6503 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6503_A/T homo ENSG00000198804 synonymous_variant ccA/ccT - LOW SNV MT-CO1 protein_coding - - - 2585 m.6505T>C 6505 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6505_T/C heter ENSG00000198804 missense_variant gTc/gCc rs28371932 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 2586 m.6507C>T 6507 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6507_C/T homo ENSG00000198804 synonymous_variant Cta/Tta - LOW SNV MT-CO1 protein_coding - - - 2587 m.6509A>G 6509 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6509_A/G homo ENSG00000198804 synonymous_variant ctA/ctG - LOW SNV MT-CO1 protein_coding - - - 2588 m.6510G>A 6510 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_6510_G/A homo&heter ENSG00000198804 missense_variant Gct/Act - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.997) - 2589 m.6512T>C 6512 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_6512_T/C homo&heter ENSG00000198804 synonymous_variant gcT/gcC - LOW SNV MT-CO1 protein_coding - - - 2590 m.6515T>C 6515 T C 39 0.005367465 0 0.000000000 7266 0.005367465 MT_6515_T/C homo ENSG00000198804 synonymous_variant gcT/gcC rs878998677 LOW SNV MT-CO1 protein_coding - - - 2591 m.6516G>A 6516 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_6516_G/A homo&heter ENSG00000198804 missense_variant Ggc/Agc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) benign(0.308) - 2592 m.6518C>T 6518 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6518_C/T homo ENSG00000198804 synonymous_variant ggC/ggT rs879050330 LOW SNV MT-CO1 protein_coding - - - 2593 m.6524T>C 6524 T C 34 0.004679328 0 0.000000000 7266 0.004679328 MT_6524_T/C homo ENSG00000198804 synonymous_variant acT/acC rs1556423145 LOW SNV MT-CO1 protein_coding - - - 2594 m.6527A>G 6527 A G 18 0.002477291 1 0.000137627 7266 0.002614919 MT_6527_A/G homo&heter ENSG00000198804 synonymous_variant atA/atG rs878906971 LOW SNV MT-CO1 protein_coding - - - 2595 m.6528C>T 6528 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_6528_C/T homo ENSG00000198804 synonymous_variant Cta/Tta rs879058417 LOW SNV MT-CO1 protein_coding - - - 2596 m.6530A>G 6530 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6530_A/G homo ENSG00000198804 synonymous_variant ctA/ctG - LOW SNV MT-CO1 protein_coding - - - 2597 m.6531C>T 6531 C T 37 0.005092210 0 0.000000000 7266 0.005092210 MT_6531_C/T homo ENSG00000198804 synonymous_variant Cta/Tta - LOW SNV MT-CO1 protein_coding - - - 2598 m.6542C>T 6542 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6542_C/T homo ENSG00000198804 synonymous_variant cgC/cgT - LOW SNV MT-CO1 protein_coding - - - 2599 m.6548C>T 6548 C T 116 0.015964767 0 0.000000000 7266 0.015964767 MT_6548_C/T homo ENSG00000198804 synonymous_variant ctC/ctT rs28358870 LOW SNV MT-CO1 protein_coding - - - 2600 m.6551C>T 6551 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6551_C/T homo ENSG00000198804 synonymous_variant aaC/aaT - LOW SNV MT-CO1 protein_coding - - - 2601 m.6554C>T 6554 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6554_C/T homo ENSG00000198804 synonymous_variant acC/acT rs878853064 LOW SNV MT-CO1 protein_coding - - uncertain_significance 2602 m.6563C>T 6563 C T 5 0.000688137 1 0.000137627 7266 0.000825764 MT_6563_C/T homo&heter ENSG00000198804 synonymous_variant ttC/ttT - LOW SNV MT-CO1 protein_coding - - - 2603 m.6566C>T 6566 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6566_C/T homo ENSG00000198804 synonymous_variant gaC/gaT - LOW SNV MT-CO1 protein_coding - - - 2604 m.6570G>T 6570 G T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_6570_G/T homo ENSG00000198804 missense_variant Gcc/Tcc rs386828988,COSV62293330 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.22) benign(0.1) - 2605 m.6572C>CGGA 6572 C CGGA 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6573_-/GGA heter ENSG00000198804 inframe_insertion -/GGA - MODERATE insertion MT-CO1 protein_coding - - - 2606 m.6572C>T 6572 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6572_C/T homo ENSG00000198804 synonymous_variant gcC/gcT - LOW SNV MT-CO1 protein_coding - - - 2607 m.6575A>G 6575 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_6575_A/G homo ENSG00000198804 synonymous_variant ggA/ggG rs1556423149 LOW SNV MT-CO1 protein_coding - - - 2608 m.6578A>C 6578 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6578_A/C homo ENSG00000198804 synonymous_variant ggA/ggC - LOW SNV MT-CO1 protein_coding - - - 2609 m.6578A>G 6578 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_6578_A/G homo ENSG00000198804 synonymous_variant ggA/ggG - LOW SNV MT-CO1 protein_coding - - - 2610 m.6581A>G 6581 A G 4 0.000550509 2 0.000275255 7266 0.000825764 MT_6581_A/G homo&heter ENSG00000198804 synonymous_variant ggA/ggG rs1556423150 LOW SNV MT-CO1 protein_coding - - - 2611 m.6581A>T 6581 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6581_A/T homo ENSG00000198804 synonymous_variant ggA/ggT - LOW SNV MT-CO1 protein_coding - - - 2612 m.6584C>T 6584 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6584_C/T homo ENSG00000198804 synonymous_variant gaC/gaT rs1556423152 LOW SNV MT-CO1 protein_coding - - - 2613 m.6587C>T 6587 C T 30 0.004128819 0 0.000000000 7266 0.004128819 MT_6587_C/T homo ENSG00000198804 synonymous_variant ccC/ccT rs371925594 LOW SNV MT-CO1 protein_coding - - - 2614 m.6590T>C 6590 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6590_T/C homo ENSG00000198804 synonymous_variant atT/atC - LOW SNV MT-CO1 protein_coding - - - 2615 m.6591C>T 6591 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6591_C/T homo ENSG00000198804 synonymous_variant Cta/Tta - LOW SNV MT-CO1 protein_coding - - - 2616 m.6593A>G 6593 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6593_A/G homo ENSG00000198804 synonymous_variant ctA/ctG - LOW SNV MT-CO1 protein_coding - - - 2617 m.6599A>G 6599 A G 48 0.006606111 1 0.000137627 7266 0.006743738 MT_6599_A/G homo&heter ENSG00000198804 synonymous_variant caA/caG rs879012660 LOW SNV MT-CO1 protein_coding - - - 2618 m.6602C>T 6602 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6602_C/T homo ENSG00000198804 synonymous_variant caC/caT - LOW SNV MT-CO1 protein_coding - - - 2619 m.6605A>G 6605 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6605_A/G homo ENSG00000198804 synonymous_variant ctA/ctG rs879096035 LOW SNV MT-CO1 protein_coding - - - 2620 m.6611A>G 6611 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6611_A/G homo ENSG00000198804 synonymous_variant tgA/tgG - LOW SNV MT-CO1 protein_coding - - - 2621 m.6614T>C 6614 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_6614_T/C homo ENSG00000198804 synonymous_variant ttT/ttC - LOW SNV MT-CO1 protein_coding - - - 2622 m.6617C>T 6617 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_6617_C/T homo&heter ENSG00000198804 synonymous_variant ttC/ttT - LOW SNV MT-CO1 protein_coding - - - 2623 m.6620T>C 6620 T C 41 0.005642720 3 0.000412882 7266 0.006055601 MT_6620_T/C homo&heter ENSG00000198804 synonymous_variant ggT/ggC rs386828989 LOW SNV MT-CO1 protein_coding - - - 2624 m.6620T>G 6620 T G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6620_T/G homo ENSG00000198804 synonymous_variant ggT/ggG - LOW SNV MT-CO1 protein_coding - - - 2625 m.6626T>C 6626 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_6626_T/C homo&heter ENSG00000198804 synonymous_variant ccT/ccC rs1556423161 LOW SNV MT-CO1 protein_coding - - - 2626 m.6629A>G 6629 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_6629_A/G homo ENSG00000198804 synonymous_variant gaA/gaG - LOW SNV MT-CO1 protein_coding - - - 2627 m.6632T>C 6632 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_6632_T/C homo ENSG00000198804 synonymous_variant gtT/gtC - LOW SNV MT-CO1 protein_coding - - - 2628 m.6633T>C 6633 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6633_T/C heter ENSG00000198804 missense_variant Tat/Cat - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 2629 m.6635T>C 6635 T C 7 0.000963391 1 0.000137627 7266 0.001101018 MT_6635_T/C homo&heter ENSG00000198804 synonymous_variant taT/taC rs386828990 LOW SNV MT-CO1 protein_coding - - - 2630 m.6636A>G 6636 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6636_A/G homo ENSG00000198804 missense_variant Att/Gtt - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) possibly_damaging(0.831) - 2631 m.6638T>C 6638 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6638_T/C homo ENSG00000198804 synonymous_variant atT/atC - LOW SNV MT-CO1 protein_coding - - - 2632 m.6641T>C 6641 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_6641_T/C homo ENSG00000198804 synonymous_variant ctT/ctC rs1556423162 LOW SNV MT-CO1 protein_coding - - - 2633 m.6644C>T 6644 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6644_C/T homo ENSG00000198804 synonymous_variant atC/atT - LOW SNV MT-CO1 protein_coding - - - 2634 m.6645C>T 6645 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6645_C/T homo ENSG00000198804 synonymous_variant Cta/Tta - LOW SNV MT-CO1 protein_coding - - - 2635 m.6647A>G 6647 A G 22 0.003027801 0 0.000000000 7266 0.003027801 MT_6647_A/G homo ENSG00000198804 synonymous_variant ctA/ctG COSV62294205 LOW SNV MT-CO1 protein_coding - - - 2636 m.6650A>G 6650 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6650_A/G homo ENSG00000198804 synonymous_variant ccA/ccG - LOW SNV MT-CO1 protein_coding - - - 2637 m.6653C>A 6653 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6653_C/A homo ENSG00000198804 synonymous_variant ggC/ggA - LOW SNV MT-CO1 protein_coding - - - 2638 m.6653C>T 6653 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_6653_C/T homo ENSG00000198804 synonymous_variant ggC/ggT - LOW SNV MT-CO1 protein_coding - - - 2639 m.6656C>T 6656 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_6656_C/T homo&heter ENSG00000198804 synonymous_variant ttC/ttT - LOW SNV MT-CO1 protein_coding - - - 2640 m.6658G>A 6658 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6658_G/A heter ENSG00000198804 missense_variant gGa/gAa - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) probably_damaging(1) - 2641 m.6662A>G 6662 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6662_A/G homo ENSG00000198804 synonymous_variant atA/atG - LOW SNV MT-CO1 protein_coding - - - 2642 m.6663A>G 6663 A G 47 0.006468483 2 0.000275255 7266 0.006743738 MT_6663_A/G homo&heter ENSG00000198804 missense_variant Atc/Gtc rs200784106 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.13) benign(0.001) - 2643 m.6664T>C 6664 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6664_T/C heter ENSG00000198804 missense_variant aTc/aCc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) possibly_damaging(0.895) - 2644 m.6666T>A 6666 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6666_T/A homo ENSG00000198804 missense_variant Tcc/Acc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.98) - 2645 m.6668C>T 6668 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6668_C/T homo ENSG00000198804 synonymous_variant tcC/tcT - LOW SNV MT-CO1 protein_coding - - - 2646 m.6671T>C 6671 T C 32 0.004404074 1 0.000137627 7266 0.004541701 MT_6671_T/C homo&heter ENSG00000198804 synonymous_variant caT/caC rs1978028 LOW SNV MT-CO1 protein_coding - - - 2647 m.6673T>C 6673 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6673_T/C heter ENSG00000198804 missense_variant aTt/aCt - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) possibly_damaging(0.642) - 2648 m.6674T>C 6674 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_6674_T/C homo ENSG00000198804 synonymous_variant atT/atC rs878895466 LOW SNV MT-CO1 protein_coding - - likely_benign 2649 m.6677A>G 6677 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6677_A/G homo ENSG00000198804 synonymous_variant gtA/gtG - LOW SNV MT-CO1 protein_coding - - - 2650 m.6680T>C 6680 T C 286 0.039361409 1 0.000137627 7266 0.039499037 MT_6680_T/C homo&heter ENSG00000198804 synonymous_variant acT/acC rs41352249 LOW SNV MT-CO1 protein_coding - - - 2651 m.6681T>C 6681 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_6681_T/C homo ENSG00000198804 missense_variant Tac/Cac rs879180101 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.55) benign(0.042) - 2652 m.6685A>T 6685 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6685_A/T heter ENSG00000198804 missense_variant tAc/tTc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.47) benign(0.443) - 2653 m.6689C>T 6689 C T 19 0.002614919 0 0.000000000 7266 0.002614919 MT_6689_C/T homo ENSG00000198804 synonymous_variant tcC/tcT rs1569484099 LOW SNV MT-CO1 protein_coding - - - 2654 m.6691GA>G 6691 GA G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6692_A/- heter ENSG00000198804 frameshift_variant ggA/gg rs1569484100 HIGH deletion MT-CO1 protein_coding - - - 2655 m.6692A>G 6692 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6692_A/G homo ENSG00000198804 synonymous_variant ggA/ggG - LOW SNV MT-CO1 protein_coding - - - 2656 m.6698A>G 6698 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6698_A/G homo ENSG00000198804 synonymous_variant aaA/aaG - LOW SNV MT-CO1 protein_coding - - - 2657 m.6699G>A 6699 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6699_G/A heter ENSG00000198804 missense_variant Gaa/Aaa - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.991) - 2658 m.6701A>G 6701 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_6701_A/G homo ENSG00000198804 synonymous_variant gaA/gaG - LOW SNV MT-CO1 protein_coding - - - 2659 m.6704A>C 6704 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6704_A/C homo ENSG00000198804 synonymous_variant ccA/ccC - LOW SNV MT-CO1 protein_coding - - - 2660 m.6704A>G 6704 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_6704_A/G homo ENSG00000198804 synonymous_variant ccA/ccG - LOW SNV MT-CO1 protein_coding - - - 2661 m.6707T>C 6707 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_6707_T/C homo ENSG00000198804 synonymous_variant ttT/ttC - LOW SNV MT-CO1 protein_coding - - - 2662 m.6710A>G 6710 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_6710_A/G homo ENSG00000198804 synonymous_variant ggA/ggG rs879242511 LOW SNV MT-CO1 protein_coding - - - 2663 m.6711T>C 6711 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_6711_T/C heter ENSG00000198804 missense_variant Tac/Cac - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.28) probably_damaging(1) - 2664 m.6713C>T 6713 C T 49 0.006743738 2 0.000275255 7266 0.007018993 MT_6713_C/T homo&heter ENSG00000198804 synonymous_variant taC/taT rs1569484102 LOW SNV MT-CO1 protein_coding - - - 2665 m.6716A>G 6716 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_6716_A/G homo ENSG00000198804 synonymous_variant atA/atG rs1556423169 LOW SNV MT-CO1 protein_coding - - - 2666 m.6718G>A 6718 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_6718_G/A heter ENSG00000198804 missense_variant gGt/gAt - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 2667 m.6719T>C 6719 T C 18 0.002477291 1 0.000137627 7266 0.002614919 MT_6719_T/C homo&heter ENSG00000198804 synonymous_variant ggT/ggC rs28358872 LOW SNV MT-CO1 protein_coding - - likely_benign 2668 m.6719T>G 6719 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6719_T/G homo ENSG00000198804 synonymous_variant ggT/ggG - LOW SNV MT-CO1 protein_coding - - - 2669 m.6722G>A 6722 G A 9 0.001238646 0 0.000000000 7266 0.001238646 MT_6722_G/A homo ENSG00000198804 synonymous_variant atG/atA rs370386332 LOW SNV MT-CO1 protein_coding - - - 2670 m.6723G>A 6723 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6723_G/A homo ENSG00000198804 missense_variant Gtc/Atc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(1) benign(0.127) - 2671 m.6728A>G 6728 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6728_A/G homo ENSG00000198804 synonymous_variant tgA/tgG - LOW SNV MT-CO1 protein_coding - - - 2672 m.6731T>C 6731 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_6731_T/C heter ENSG00000198804 synonymous_variant gcT/gcC - LOW SNV MT-CO1 protein_coding - - - 2673 m.6734G>A 6734 G A 10 0.001376273 4 0.000550509 7266 0.001926782 MT_6734_G/A homo&heter ENSG00000198804 synonymous_variant atG/atA rs41413745 LOW SNV MT-CO1 protein_coding - - benign 2674 m.6737A>G 6737 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_6737_A/G homo ENSG00000198804 synonymous_variant atA/atG - LOW SNV MT-CO1 protein_coding - - - 2675 m.6743T>C 6743 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_6743_T/C homo&heter ENSG00000198804 synonymous_variant atT/atC - LOW SNV MT-CO1 protein_coding - - - 2676 m.6746C>T 6746 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_6746_C/T homo ENSG00000198804 synonymous_variant ggC/ggT - LOW SNV MT-CO1 protein_coding - - - 2677 m.6749C>T 6749 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6749_C/T homo ENSG00000198804 synonymous_variant ttC/ttT - LOW SNV MT-CO1 protein_coding - - - 2678 m.6752A>G 6752 A G 157 0.021607487 0 0.000000000 7266 0.021607487 MT_6752_A/G homo ENSG00000198804 synonymous_variant ctA/ctG rs41332953 LOW SNV MT-CO1 protein_coding - - - 2679 m.6754G>A 6754 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6754_G/A heter ENSG00000198804 missense_variant gGg/gAg - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 2680 m.6755G>A 6755 G A 45 0.006193229 0 0.000000000 7266 0.006193229 MT_6755_G/A homo ENSG00000198804 synonymous_variant ggG/ggA rs386420011 LOW SNV MT-CO1 protein_coding - - - 2681 m.6764G>A 6764 G A 10 0.001376273 0 0.000000000 7266 0.001376273 MT_6764_G/A homo ENSG00000198804 synonymous_variant gtG/gtA - LOW SNV MT-CO1 protein_coding - - - 2682 m.6768G>A 6768 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6768_G/A heter ENSG00000198804 missense_variant Gca/Aca - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 2683 m.6770A>G 6770 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6770_A/G homo ENSG00000198804 synonymous_variant gcA/gcG - LOW SNV MT-CO1 protein_coding - - - 2684 m.6776T>C 6776 T C 29 0.003991192 0 0.000000000 7266 0.003991192 MT_6776_T/C homo ENSG00000198804 synonymous_variant caT/caC rs41473545 LOW SNV MT-CO1 protein_coding - - - 2685 m.6779A>G 6779 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_6779_A/G homo ENSG00000198804 synonymous_variant atA/atG - LOW SNV MT-CO1 protein_coding - - - 2686 m.6782T>C 6782 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_6782_T/C homo ENSG00000198804 synonymous_variant ttT/ttC - LOW SNV MT-CO1 protein_coding - - - 2687 m.6785A>G 6785 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6785_A/G homo ENSG00000198804 synonymous_variant acA/acG - LOW SNV MT-CO1 protein_coding - - - 2688 m.6788A>G 6788 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6788_A/G homo ENSG00000198804 synonymous_variant gtA/gtG - LOW SNV MT-CO1 protein_coding - - - 2689 m.6791A>G 6791 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_6791_A/G homo ENSG00000198804 synonymous_variant ggA/ggG rs375385380 LOW SNV MT-CO1 protein_coding - - - 2690 m.6794A>G 6794 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_6794_A/G homo ENSG00000198804 synonymous_variant atA/atG rs879015181 LOW SNV MT-CO1 protein_coding - - - 2691 m.6803C>T 6803 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6803_C/T homo ENSG00000198804 synonymous_variant gaC/gaT - LOW SNV MT-CO1 protein_coding - - - 2692 m.6806A>G 6806 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_6806_A/G homo ENSG00000198804 synonymous_variant acA/acG - LOW SNV MT-CO1 protein_coding - - - 2693 m.6812A>G 6812 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6812_A/G homo ENSG00000198804 synonymous_variant gcA/gcG - LOW SNV MT-CO1 protein_coding - - - 2694 m.6815T>C 6815 T C 20 0.002752546 0 0.000000000 7266 0.002752546 MT_6815_T/C homo ENSG00000198804 synonymous_variant taT/taC rs368552121 LOW SNV MT-CO1 protein_coding - - - 2695 m.6827T>C 6827 T C 135 0.018579686 0 0.000000000 7266 0.018579686 MT_6827_T/C homo ENSG00000198804 synonymous_variant gcT/gcC rs1978000 LOW SNV MT-CO1 protein_coding - - - 2696 m.6836C>T 6836 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6836_C/T homo ENSG00000198804 synonymous_variant atC/atT rs1556423177 LOW SNV MT-CO1 protein_coding - - - 2697 m.6842T>C 6842 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_6842_T/C homo ENSG00000198804 synonymous_variant gcT/gcC rs1556423178 LOW SNV MT-CO1 protein_coding - - - 2698 m.6843A>G 6843 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6843_A/G homo ENSG00000198804 missense_variant Atc/Gtc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(1) possibly_damaging(0.843) - 2699 m.6844T>A 6844 T A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6844_T/A heter ENSG00000198804 missense_variant aTc/aAc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 2700 m.6845C>T 6845 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6845_C/T heter ENSG00000198804 synonymous_variant atC/atT - LOW SNV MT-CO1 protein_coding - - - 2701 m.6851C>A 6851 C A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6851_C/A homo ENSG00000198804 synonymous_variant acC/acA - LOW SNV MT-CO1 protein_coding - - - 2702 m.6851C>T 6851 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6851_C/T homo ENSG00000198804 synonymous_variant acC/acT - LOW SNV MT-CO1 protein_coding - - - 2703 m.6852G>A 6852 G A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_6852_G/A homo ENSG00000198804 missense_variant Ggc/Agc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 2704 m.6860A>G 6860 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6860_A/G homo ENSG00000198804 synonymous_variant aaA/aaG - LOW SNV MT-CO1 protein_coding - - - 2705 m.6863A>G 6863 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_6863_A/G homo ENSG00000198804 synonymous_variant gtA/gtG rs386828996 LOW SNV MT-CO1 protein_coding - - - 2706 m.6866T>C 6866 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_6866_T/C homo ENSG00000198804 synonymous_variant ttT/ttC - LOW SNV MT-CO1 protein_coding - - - 2707 m.6868G>A 6868 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6868_G/A heter ENSG00000198804 missense_variant aGc/aAc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.963) - 2708 m.6871G>A 6871 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6871_G/A heter ENSG00000198804 stop_gained tGa/tAa - HIGH SNV MT-CO1 protein_coding - - - 2709 m.6872A>G 6872 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_6872_A/G homo ENSG00000198804 synonymous_variant tgA/tgG - LOW SNV MT-CO1 protein_coding - - - 2710 m.6875C>T 6875 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6875_C/T homo ENSG00000198804 synonymous_variant ctC/ctT - LOW SNV MT-CO1 protein_coding - - - 2711 m.6878C>T 6878 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_6878_C/T homo&heter ENSG00000198804 synonymous_variant gcC/gcT rs1556423188 LOW SNV MT-CO1 protein_coding - - - 2712 m.6881A>G 6881 A G 22 0.003027801 0 0.000000000 7266 0.003027801 MT_6881_A/G homo ENSG00000198804 synonymous_variant acA/acG - LOW SNV MT-CO1 protein_coding - - - 2713 m.6884C>T 6884 C T 2 0.000275255 2 0.000275255 7266 0.000550509 MT_6884_C/T homo&heter ENSG00000198804 synonymous_variant ctC/ctT - LOW SNV MT-CO1 protein_coding - - - 2714 m.6890A>G 6890 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_6890_A/G homo ENSG00000198804 synonymous_variant ggA/ggG rs1556423191 LOW SNV MT-CO1 protein_coding - - - 2715 m.6891A>G 6891 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6891_A/G homo ENSG00000198804 missense_variant Agc/Ggc rs879091068 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(1) benign(0) - 2716 m.6893C>T 6893 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6893_C/T homo ENSG00000198804 synonymous_variant agC/agT - LOW SNV MT-CO1 protein_coding - - - 2717 m.6895A>G 6895 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6895_A/G homo ENSG00000198804 missense_variant aAt/aGt rs1556423193 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.54) benign(0.13) - 2718 m.6896T>C 6896 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_6896_T/C homo ENSG00000198804 synonymous_variant aaT/aaC - LOW SNV MT-CO1 protein_coding - - - 2719 m.6899G>A 6899 G A 10 0.001376273 2 0.000275255 7266 0.001651528 MT_6899_G/A homo&heter ENSG00000198804 synonymous_variant atG/atA rs1556423194 LOW SNV MT-CO1 protein_coding - - - 2720 m.6902A>G 6902 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6902_A/G homo ENSG00000198804 synonymous_variant aaA/aaG - LOW SNV MT-CO1 protein_coding - - - 2721 m.6904G>A 6904 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6904_G/A heter ENSG00000198804 stop_gained tGa/tAa - HIGH SNV MT-CO1 protein_coding - - - 2722 m.6905A>G 6905 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_6905_A/G homo&heter ENSG00000198804 synonymous_variant tgA/tgG rs1556423195 LOW SNV MT-CO1 protein_coding - - - 2723 m.6908T>C 6908 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_6908_T/C homo ENSG00000198804 synonymous_variant tcT/tcC - LOW SNV MT-CO1 protein_coding - - - 2724 m.6909G>A 6909 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6909_G/A heter ENSG00000198804 missense_variant Gct/Act - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.43) benign(0.156) - 2725 m.6911T>C 6911 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6911_T/C homo ENSG00000198804 synonymous_variant gcT/gcC rs1556423196 LOW SNV MT-CO1 protein_coding - - - 2726 m.6914A>G 6914 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_6914_A/G homo ENSG00000198804 synonymous_variant gcA/gcG - LOW SNV MT-CO1 protein_coding - - - 2727 m.6914A>T 6914 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6914_A/T homo ENSG00000198804 synonymous_variant gcA/gcT - LOW SNV MT-CO1 protein_coding - - - 2728 m.6915G>A 6915 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_6915_G/A heter ENSG00000198804 missense_variant Gtg/Atg - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(1) benign(0) - 2729 m.6917G>A 6917 G A 22 0.003027801 1 0.000137627 7266 0.003165428 MT_6917_G/A homo&heter ENSG00000198804 synonymous_variant gtG/gtA rs1556423197 LOW SNV MT-CO1 protein_coding - - - 2730 m.6918C>T 6918 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6918_C/T homo ENSG00000198804 missense_variant Ctc/Ttc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.02) benign(0.02) - 2731 m.6923A>G 6923 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6923_A/G homo ENSG00000198804 synonymous_variant tgA/tgG - LOW SNV MT-CO1 protein_coding - - - 2732 m.6924G>A 6924 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6924_G/A heter ENSG00000198804 missense_variant Gcc/Acc COSV62293626 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.07) probably_damaging(0.996) - 2733 m.6929A>G 6929 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6929_A/G homo ENSG00000198804 synonymous_variant ctA/ctG rs879120254 LOW SNV MT-CO1 protein_coding - - - 2734 m.6932A>G 6932 A G 19 0.002614919 3 0.000412882 7266 0.003027801 MT_6932_A/G homo&heter ENSG00000198804 synonymous_variant ggA/ggG rs1556423204 LOW SNV MT-CO1 protein_coding - - - 2735 m.6935C>T 6935 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6935_C/T homo ENSG00000198804 synonymous_variant ttC/ttT - LOW SNV MT-CO1 protein_coding - - - 2736 m.6937T>C 6937 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6937_T/C heter ENSG00000198804 missense_variant aTc/aCc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 2737 m.6938C>T 6938 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6938_C/T homo ENSG00000198804 synonymous_variant atC/atT rs1556423206 LOW SNV MT-CO1 protein_coding - - - 2738 m.6939T>C 6939 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6939_T/C heter ENSG00000198804 missense_variant Ttt/Ctt - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.974) - 2739 m.6941T>C 6941 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_6941_T/C homo ENSG00000198804 synonymous_variant ttT/ttC rs386828998 LOW SNV MT-CO1 protein_coding - - - 2740 m.6944T>C 6944 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6944_T/C heter ENSG00000198804 synonymous_variant ctT/ctC - LOW SNV MT-CO1 protein_coding - - - 2741 m.6945T>C 6945 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6945_T/C heter ENSG00000198804 missense_variant Ttc/Ctc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.993) - 2742 m.6950C>T 6950 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6950_C/T homo ENSG00000198804 synonymous_variant acC/acT - LOW SNV MT-CO1 protein_coding - - - 2743 m.6951G>A 6951 G A 1 0.000137627 2 0.000275255 7266 0.000412882 MT_6951_G/A homo&heter ENSG00000198804 missense_variant Gta/Ata - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.16) benign(0.041) - 2744 m.6952T>C 6952 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6952_T/C heter ENSG00000198804 missense_variant gTa/gCa - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.02) benign(0.284) - 2745 m.6956T>C 6956 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_6956_T/C homo ENSG00000198804 synonymous_variant ggT/ggC rs374976634 LOW SNV MT-CO1 protein_coding - - - 2746 m.6956T>G 6956 T G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6956_T/G heter ENSG00000198804 synonymous_variant ggT/ggG - LOW SNV MT-CO1 protein_coding - - - 2747 m.6959C>T 6959 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_6959_C/T homo ENSG00000198804 synonymous_variant ggC/ggT - LOW SNV MT-CO1 protein_coding - - - 2748 m.6960C>T 6960 C T 94 0.012936967 0 0.000000000 7266 0.012936967 MT_6960_C/T homo ENSG00000198804 synonymous_variant Ctg/Ttg rs386828999 LOW SNV MT-CO1 protein_coding - - - 2749 m.6962G>A 6962 G A 498 0.068538398 0 0.000000000 7266 0.068538398 MT_6962_G/A homo ENSG00000198804 synonymous_variant ctG/ctA rs1970771 LOW SNV MT-CO1 protein_coding - - - 2750 m.6965T>C 6965 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_6965_T/C homo ENSG00000198804 synonymous_variant acT/acC - LOW SNV MT-CO1 protein_coding - - - 2751 m.6971T>C 6971 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6971_T/C homo ENSG00000198804 synonymous_variant atT/atC - LOW SNV MT-CO1 protein_coding - - - 2752 m.6972G>A 6972 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6972_G/A heter ENSG00000198804 missense_variant Gta/Ata - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.11) possibly_damaging(0.802) - 2753 m.6975T>C 6975 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6975_T/C homo ENSG00000198804 synonymous_variant Tta/Cta - LOW SNV MT-CO1 protein_coding - - - 2754 m.6977A>G 6977 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6977_A/G homo ENSG00000198804 synonymous_variant ttA/ttG - LOW SNV MT-CO1 protein_coding - - - 2755 m.6983C>T 6983 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6983_C/T homo ENSG00000198804 synonymous_variant aaC/aaT - LOW SNV MT-CO1 protein_coding - - - 2756 m.6986A>G 6986 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_6986_A/G homo ENSG00000198804 synonymous_variant tcA/tcG - LOW SNV MT-CO1 protein_coding - - - 2757 m.6987T>G 6987 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6987_T/G homo ENSG00000198804 missense_variant Tca/Gca - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.969) - 2758 m.6989A>G 6989 A G 114 0.015689513 0 0.000000000 7266 0.015689513 MT_6989_A/G homo ENSG00000198804 synonymous_variant tcA/tcG rs1978001 LOW SNV MT-CO1 protein_coding - - - 2759 m.6990C>T 6990 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6990_C/T homo ENSG00000198804 synonymous_variant Cta/Tta - LOW SNV MT-CO1 protein_coding - - - 2760 m.6996A>G 6996 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_6996_A/G homo ENSG00000198804 missense_variant Atc/Gtc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.09) possibly_damaging(0.904) - 2761 m.6997T>C 6997 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_6997_T/C heter ENSG00000198804 missense_variant aTc/aCc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.997) - 2762 m.7001A>G 7001 A G 5 0.000688137 1 0.000137627 7266 0.000825764 MT_7001_A/G homo&heter ENSG00000198804 synonymous_variant gtA/gtG rs1556423217 LOW SNV MT-CO1 protein_coding - - - 2763 m.7004A>G 7004 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_7004_A/G homo ENSG00000198804 synonymous_variant ctA/ctG - LOW SNV MT-CO1 protein_coding - - - 2764 m.7007C>T 7007 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_7007_C/T homo ENSG00000198804 synonymous_variant caC/caT - LOW SNV MT-CO1 protein_coding - - - 2765 m.7010C>T 7010 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7010_C/T homo ENSG00000198804 synonymous_variant gaC/gaT - LOW SNV MT-CO1 protein_coding - - - 2766 m.7013G>A 7013 G A 25 0.003440683 0 0.000000000 7266 0.003440683 MT_7013_G/A homo ENSG00000198804 synonymous_variant acG/acA rs1556423218,COSV62293094 LOW SNV MT-CO1 protein_coding - - - 2767 m.7014T>C 7014 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7014_T/C heter ENSG00000198804 missense_variant Tac/Cac - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 2768 m.7016C>T 7016 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7016_C/T homo ENSG00000198804 synonymous_variant taC/taT - LOW SNV MT-CO1 protein_coding - - - 2769 m.7020G>A 7020 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7020_G/A heter ENSG00000198804 missense_variant Gtt/Att - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.956) - 2770 m.7021T>C 7021 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7021_T/C heter ENSG00000198804 missense_variant gTt/gCt - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.996) - 2771 m.7022T>A 7022 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7022_T/A homo ENSG00000198804 synonymous_variant gtT/gtA - LOW SNV MT-CO1 protein_coding - - - 2772 m.7022T>C 7022 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_7022_T/C homo ENSG00000198804 synonymous_variant gtT/gtC rs879059323 LOW SNV MT-CO1 protein_coding - - - 2773 m.7024T>C 7024 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7024_T/C heter ENSG00000198804 missense_variant gTa/gCa - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 2774 m.7025A>G 7025 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7025_A/G homo ENSG00000198804 synonymous_variant gtA/gtG - LOW SNV MT-CO1 protein_coding - - - 2775 m.7028C>T 7028 C T 6933 0.954170107 1 0.000137627 7266 0.954307735 MT_7028_C/T homo&heter ENSG00000198804 synonymous_variant gcC/gcT rs2015062 LOW SNV MT-CO1 protein_coding - - - 2776 m.7031C>T 7031 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7031_C/T homo ENSG00000198804 synonymous_variant caC/caT - LOW SNV MT-CO1 protein_coding - - - 2777 m.7040T>C 7040 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7040_T/C homo ENSG00000198804 synonymous_variant taT/taC - LOW SNV MT-CO1 protein_coding - - - 2778 m.7041G>A 7041 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7041_G/A heter ENSG00000198804 missense_variant Gtc/Atc rs1556423220 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.956) not_provided,uncertain_significance 2779 m.7042T>C 7042 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7042_T/C heter ENSG00000198804 missense_variant gTc/gCc COSV62293473 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.996) - 2780 m.7043C>A 7043 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7043_C/A homo ENSG00000198804 synonymous_variant gtC/gtA - LOW SNV MT-CO1 protein_coding - - - 2781 m.7046A>G 7046 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7046_A/G homo ENSG00000198804 synonymous_variant ctA/ctG rs1556423221 LOW SNV MT-CO1 protein_coding - - - 2782 m.7049A>G 7049 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7049_A/G homo ENSG00000198804 synonymous_variant tcA/tcG - LOW SNV MT-CO1 protein_coding - - - 2783 m.7051T>C 7051 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7051_T/C homo ENSG00000198804 missense_variant aTa/aCa - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.982) - 2784 m.7052A>G 7052 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_7052_A/G homo ENSG00000198804 synonymous_variant atA/atG - LOW SNV MT-CO1 protein_coding - - - 2785 m.7055A>G 7055 A G 166 0.022846133 0 0.000000000 7266 0.022846133 MT_7055_A/G homo ENSG00000198804 synonymous_variant ggA/ggG rs1978002 LOW SNV MT-CO1 protein_coding - - - 2786 m.7055A>T 7055 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7055_A/T homo ENSG00000198804 synonymous_variant ggA/ggT - LOW SNV MT-CO1 protein_coding - - - 2787 m.7056G>A 7056 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_7056_G/A heter ENSG00000198804 missense_variant Gct/Act rs1556423224 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.996) - 2788 m.7058T>C 7058 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7058_T/C homo ENSG00000198804 synonymous_variant gcT/gcC - LOW SNV MT-CO1 protein_coding - - - 2789 m.7061A>G 7061 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7061_A/G homo ENSG00000198804 synonymous_variant gtA/gtG - LOW SNV MT-CO1 protein_coding - - - 2790 m.7064T>C 7064 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7064_T/C homo ENSG00000198804 synonymous_variant ttT/ttC rs1556423225 LOW SNV MT-CO1 protein_coding - - - 2791 m.7069T>C 7069 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7069_T/C heter ENSG00000198804 missense_variant aTc/aCc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.997) - 2792 m.7070C>T 7070 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_7070_C/T homo ENSG00000198804 synonymous_variant atC/atT - LOW SNV MT-CO1 protein_coding - - - 2793 m.7072T>C 7072 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7072_T/C heter ENSG00000198804 missense_variant aTa/aCa COSV62293024 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.983) - 2794 m.7073A>G 7073 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7073_A/G homo ENSG00000198804 synonymous_variant atA/atG rs1553139483 LOW SNV MT-CO1 protein_coding - - - 2795 m.7074G>A 7074 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7074_G/A heter ENSG00000198804 stop_gained Gga/Aga - HIGH SNV MT-CO1 protein_coding - - - 2796 m.7076A>G 7076 A G 37 0.005092210 3 0.000412882 7266 0.005505092 MT_7076_A/G homo&heter ENSG00000198804 synonymous_variant ggA/ggG rs879107101 LOW SNV MT-CO1 protein_coding - - - 2797 m.7079C>T 7079 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7079_C/T homo ENSG00000198804 synonymous_variant ggC/ggT - LOW SNV MT-CO1 protein_coding - - - 2798 m.7080T>C 7080 T C 9 0.001238646 2 0.000275255 7266 0.001513900 MT_7080_T/C homo&heter ENSG00000198804 missense_variant Ttc/Ctc rs1556423226 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.25) probably_damaging(0.988) - 2799 m.7082C>T 7082 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7082_C/T homo ENSG00000198804 synonymous_variant ttC/ttT - LOW SNV MT-CO1 protein_coding - - - 2800 m.7083A>G 7083 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7083_A/G homo ENSG00000198804 missense_variant Att/Gtt - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.86) benign(0.003) - 2801 m.7084T>C 7084 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_7084_T/C homo&heter ENSG00000198804 missense_variant aTt/aCt rs28445709 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.5) benign(0.116) - 2802 m.7085T>C 7085 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7085_T/C homo ENSG00000198804 synonymous_variant atT/atC - LOW SNV MT-CO1 protein_coding - - - 2803 m.7091A>G 7091 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7091_A/G homo ENSG00000198804 synonymous_variant tgA/tgG - LOW SNV MT-CO1 protein_coding - - - 2804 m.7094T>C 7094 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_7094_T/C homo ENSG00000198804 synonymous_variant ttT/ttC rs1556423230 LOW SNV MT-CO1 protein_coding - - - 2805 m.7100A>G 7100 A G 4 0.000550509 1 0.000137627 7266 0.000688137 MT_7100_A/G homo&heter ENSG00000198804 synonymous_variant ctA/ctG - LOW SNV MT-CO1 protein_coding - - - 2806 m.7103C>T 7103 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7103_C/T homo ENSG00000198804 synonymous_variant ttC/ttT rs386829001 LOW SNV MT-CO1 protein_coding - - - 2807 m.7106A>G 7106 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7106_A/G homo ENSG00000198804 synonymous_variant tcA/tcG - LOW SNV MT-CO1 protein_coding - - - 2808 m.7109C>T 7109 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7109_C/T homo ENSG00000198804 synonymous_variant ggC/ggT rs1556423233 LOW SNV MT-CO1 protein_coding - - - 2809 m.7110T>C 7110 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7110_T/C heter ENSG00000198804 missense_variant Tac/Cac - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) probably_damaging(1) - 2810 m.7112C>T 7112 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7112_C/T heter ENSG00000198804 synonymous_variant taC/taT - LOW SNV MT-CO1 protein_coding - - - 2811 m.7115C>T 7115 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7115_C/T homo ENSG00000198804 synonymous_variant acC/acT - LOW SNV MT-CO1 protein_coding - - - 2812 m.7118A>G 7118 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7118_A/G homo ENSG00000198804 synonymous_variant ctA/ctG - LOW SNV MT-CO1 protein_coding - - - 2813 m.7119G>A 7119 G A 10 0.001376273 2 0.000275255 7266 0.001651528 MT_7119_G/A homo&heter ENSG00000198804 missense_variant Gac/Aac rs1556423235 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(1) benign(0.003) - 2814 m.7124A>G 7124 A G 37 0.005092210 0 0.000000000 7266 0.005092210 MT_7124_A/G homo ENSG00000198804 synonymous_variant caA/caG - LOW SNV MT-CO1 protein_coding - - - 2815 m.7129A>G 7129 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_7129_A/G homo ENSG00000198804 missense_variant tAc/tGc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) benign(0.006) - 2816 m.7142T>C 7142 T C 61 0.008395266 0 0.000000000 7266 0.008395266 MT_7142_T/C homo ENSG00000198804 synonymous_variant caT/caC rs878865837 LOW SNV MT-CO1 protein_coding - - - 2817 m.7145C>T 7145 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7145_C/T homo ENSG00000198804 synonymous_variant ttC/ttT - LOW SNV MT-CO1 protein_coding - - - 2818 m.7146A>G 7146 A G 220 0.030278007 0 0.000000000 7266 0.030278007 MT_7146_A/G homo ENSG00000198804 missense_variant Act/Gct rs372136420 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.51) benign(0.013) - 2819 m.7147C>T 7147 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7147_C/T homo ENSG00000198804 missense_variant aCt/aTt - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.39) benign(0) - 2820 m.7148T>C 7148 T C 17 0.002339664 0 0.000000000 7266 0.002339664 MT_7148_T/C homo ENSG00000198804 synonymous_variant acT/acC rs1556423240 LOW SNV MT-CO1 protein_coding - - - 2821 m.7149A>G 7149 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7149_A/G homo ENSG00000198804 missense_variant Atc/Gtc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.85) benign(0) - 2822 m.7150T>C 7150 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7150_T/C heter ENSG00000198804 missense_variant aTc/aCc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.39) benign(0.356) - 2823 m.7151C>T 7151 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_7151_C/T homo ENSG00000198804 synonymous_variant atC/atT - LOW SNV MT-CO1 protein_coding - - - 2824 m.7151CAT>C 7151 CAT C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7152_AT/- heter ENSG00000198804 frameshift_variant ATa/a - HIGH deletion MT-CO1 protein_coding - - - 2825 m.7153T>C 7153 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7153_T/C homo ENSG00000198804 missense_variant aTa/aCa - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.04) benign(0.006) - 2826 m.7154A>G 7154 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_7154_A/G homo&heter ENSG00000198804 synonymous_variant atA/atG - LOW SNV MT-CO1 protein_coding - - - 2827 m.7156T>C 7156 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7156_T/C heter ENSG00000198804 missense_variant tTc/tCc - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 2828 m.7158A>G 7158 A G 15 0.002064410 0 0.000000000 7266 0.002064410 MT_7158_A/G homo ENSG00000198804 missense_variant Atc/Gtc rs878887002 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.64) benign(0.001) - 2829 m.7159T>C 7159 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7159_T/C homo ENSG00000198804 missense_variant aTc/aCc rs3929989 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.24) benign(0.001) - 2830 m.7160C>T 7160 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7160_C/T homo ENSG00000198804 synonymous_variant atC/atT - LOW SNV MT-CO1 protein_coding - - - 2831 m.7163C>T 7163 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7163_C/T homo ENSG00000198804 synonymous_variant ggC/ggT - LOW SNV MT-CO1 protein_coding - - - 2832 m.7169T>C 7169 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7169_T/C homo ENSG00000198804 synonymous_variant aaT/aaC - LOW SNV MT-CO1 protein_coding - - - 2833 m.7170C>T 7170 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7170_C/T homo ENSG00000198804 synonymous_variant Cta/Tta - LOW SNV MT-CO1 protein_coding - - - 2834 m.7175T>C 7175 T C 201 0.027663088 0 0.000000000 7266 0.027663088 MT_7175_T/C homo ENSG00000198804 synonymous_variant acT/acC rs28358874 LOW SNV MT-CO1 protein_coding - - benign 2835 m.7181C>T 7181 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_7181_C/T homo ENSG00000198804 synonymous_variant ttC/ttT - LOW SNV MT-CO1 protein_coding - - - 2836 m.7193T>C 7193 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7193_T/C homo ENSG00000198804 synonymous_variant ttT/ttC - LOW SNV MT-CO1 protein_coding - - - 2837 m.7196C>A 7196 C A 521 0.071703826 0 0.000000000 7266 0.071703826 MT_7196_C/A homo ENSG00000198804 synonymous_variant ctC/ctA rs28358875 LOW SNV MT-CO1 protein_coding - - - 2838 m.7196C>T 7196 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_7196_C/T homo ENSG00000198804 synonymous_variant ctC/ctT - LOW SNV MT-CO1 protein_coding - - - 2839 m.7198G>A 7198 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7198_G/A heter ENSG00000198804 missense_variant gGc/gAc COSV62293276 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 2840 m.7200C>T 7200 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7200_C/T homo ENSG00000198804 synonymous_variant Cta/Tta - LOW SNV MT-CO1 protein_coding - - - 2841 m.7202A>G 7202 A G 18 0.002477291 0 0.000000000 7266 0.002477291 MT_7202_A/G homo ENSG00000198804 synonymous_variant ctA/ctG rs369698068 LOW SNV MT-CO1 protein_coding - - - 2842 m.7205C>T 7205 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7205_C/T homo ENSG00000198804 synonymous_variant tcC/tcT - LOW SNV MT-CO1 protein_coding - - - 2843 m.7208A>G 7208 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7208_A/G homo ENSG00000198804 synonymous_variant ggA/ggG - LOW SNV MT-CO1 protein_coding - - - 2844 m.7211G>A 7211 G A 7 0.000963391 2 0.000275255 7266 0.001238646 MT_7211_G/A homo&heter ENSG00000198804 synonymous_variant atG/atA - LOW SNV MT-CO1 protein_coding - - - 2845 m.7219G>A 7219 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7219_G/A heter ENSG00000198804 missense_variant cGt/cAt - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 2846 m.7220T>C 7220 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_7220_T/C homo ENSG00000198804 synonymous_variant cgT/cgC rs1556423250,COSV62294342 LOW SNV MT-CO1 protein_coding - - likely_benign 2847 m.7223C>T 7223 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7223_C/T homo ENSG00000198804 synonymous_variant taC/taT - LOW SNV MT-CO1 protein_coding - - - 2848 m.7226G>A 7226 G A 8 0.001101018 0 0.000000000 7266 0.001101018 MT_7226_G/A homo ENSG00000198804 synonymous_variant tcG/tcA rs369835151 LOW SNV MT-CO1 protein_coding - - - 2849 m.7229C>T 7229 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7229_C/T homo ENSG00000198804 synonymous_variant gaC/gaT - LOW SNV MT-CO1 protein_coding - - - 2850 m.7230T>C 7230 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_7230_T/C heter ENSG00000198804 missense_variant Tac/Cac - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 2851 m.7235C>T 7235 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7235_C/T homo ENSG00000198804 synonymous_variant ccC/ccT - LOW SNV MT-CO1 protein_coding - - - 2852 m.7236G>A 7236 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7236_G/A heter ENSG00000198804 missense_variant Gat/Aat - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) benign(0.039) - 2853 m.7238T>C 7238 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7238_T/C homo ENSG00000198804 synonymous_variant gaT/gaC - LOW SNV MT-CO1 protein_coding - - - 2854 m.7241A>G 7241 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_7241_A/G homo ENSG00000198804 synonymous_variant gcA/gcG rs879201845 LOW SNV MT-CO1 protein_coding - - - 2855 m.7242T>C 7242 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_7242_T/C heter ENSG00000198804 missense_variant Tac/Cac - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 2856 m.7244C>T 7244 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7244_C/T homo ENSG00000198804 synonymous_variant taC/taT rs386829003 LOW SNV MT-CO1 protein_coding - - - 2857 m.7245A>G 7245 A G 9 0.001238646 1 0.000137627 7266 0.001376273 MT_7245_A/G homo&heter ENSG00000198804 missense_variant Acc/Gcc rs1556423253 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.09) probably_damaging(0.981) - 2858 m.7247C>T 7247 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7247_C/T homo ENSG00000198804 synonymous_variant acC/acT - LOW SNV MT-CO1 protein_coding - - - 2859 m.7250A>G 7250 A G 65 0.008945775 0 0.000000000 7266 0.008945775 MT_7250_A/G homo ENSG00000198804 synonymous_variant acA/acG - LOW SNV MT-CO1 protein_coding - - - 2860 m.7253A>G 7253 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7253_A/G homo ENSG00000198804 synonymous_variant tgA/tgG - LOW SNV MT-CO1 protein_coding - - - 2861 m.7256C>T 7256 C T 561 0.077208918 0 0.000000000 7266 0.077208918 MT_7256_C/T homo ENSG00000198804 synonymous_variant aaC/aaT rs1556423258 LOW SNV MT-CO1 protein_coding - - - 2862 m.7257A>G 7257 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7257_A/G homo ENSG00000198804 missense_variant Atc/Gtc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.83) benign(0.001) - 2863 m.7258T>C 7258 T C 16 0.002202037 1 0.000137627 7266 0.002339664 MT_7258_T/C homo&heter ENSG00000198804 missense_variant aTc/aCc rs1556423260 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.95) benign(0.003) - 2864 m.7259C>T 7259 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7259_C/T homo ENSG00000198804 synonymous_variant atC/atT - LOW SNV MT-CO1 protein_coding - - - 2865 m.7260C>T 7260 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7260_C/T homo ENSG00000198804 synonymous_variant Cta/Tta - LOW SNV MT-CO1 protein_coding - - - 2866 m.7262A>G 7262 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7262_A/G homo ENSG00000198804 synonymous_variant ctA/ctG - LOW SNV MT-CO1 protein_coding - - - 2867 m.7265A>G 7265 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7265_A/G homo ENSG00000198804 synonymous_variant tcA/tcG - LOW SNV MT-CO1 protein_coding - - - 2868 m.7268T>C 7268 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7268_T/C homo ENSG00000198804 synonymous_variant tcT/tcC - LOW SNV MT-CO1 protein_coding - - - 2869 m.7268T>G 7268 T G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7268_T/G homo ENSG00000198804 synonymous_variant tcT/tcG - LOW SNV MT-CO1 protein_coding - - - 2870 m.7269G>A 7269 G A 28 0.003853565 1 0.000137627 7266 0.003991192 MT_7269_G/A homo&heter ENSG00000198804 missense_variant Gta/Ata rs386829004 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.31) benign(0.018) - 2871 m.7270T>C 7270 T C 27 0.003715937 2 0.000275255 7266 0.003991192 MT_7270_T/C homo&heter ENSG00000198804 missense_variant gTa/gCa rs879002867 MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.02) benign(0.116) - 2872 m.7271A>G 7271 A G 15 0.002064410 1 0.000137627 7266 0.002202037 MT_7271_A/G homo&heter ENSG00000198804 synonymous_variant gtA/gtG rs879046629 LOW SNV MT-CO1 protein_coding - - - 2873 m.7274C>T 7274 C T 204 0.028075970 0 0.000000000 7266 0.028075970 MT_7274_C/T homo ENSG00000198804 synonymous_variant ggC/ggT rs879089638 LOW SNV MT-CO1 protein_coding - - - 2874 m.7278T>C 7278 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_7278_T/C homo&heter ENSG00000198804 missense_variant Ttc/Ctc rs1556423264 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(1) benign(0.006) - 2875 m.7280C>A 7280 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7280_C/A homo ENSG00000198804 missense_variant ttC/ttA - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(1) benign(0.006) - 2876 m.7280C>T 7280 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_7280_C/T homo ENSG00000198804 synonymous_variant ttC/ttT - LOW SNV MT-CO1 protein_coding - - - 2877 m.7283T>C 7283 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7283_T/C homo ENSG00000198804 synonymous_variant atT/atC - LOW SNV MT-CO1 protein_coding - - - 2878 m.7286T>C 7286 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7286_T/C homo ENSG00000198804 synonymous_variant tcT/tcC - LOW SNV MT-CO1 protein_coding - - - 2879 m.7287C>T 7287 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7287_C/T homo ENSG00000198804 synonymous_variant Cta/Tta - LOW SNV MT-CO1 protein_coding - - - 2880 m.7292A>C 7292 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7292_A/C homo ENSG00000198804 synonymous_variant acA/acC - LOW SNV MT-CO1 protein_coding - - - 2881 m.7293G>A 7293 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7293_G/A heter ENSG00000198804 missense_variant Gca/Aca - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.985) - 2882 m.7295A>G 7295 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7295_A/G homo ENSG00000198804 synonymous_variant gcA/gcG - LOW SNV MT-CO1 protein_coding - - - 2883 m.7298A>G 7298 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_7298_A/G homo ENSG00000198804 synonymous_variant gtA/gtG - LOW SNV MT-CO1 protein_coding - - - 2884 m.7299A>G 7299 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_7299_A/G homo&heter ENSG00000198804 missense_variant Ata/Gta rs879071265,COSV62293998 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.19) benign(0) - 2885 m.7300T>C 7300 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7300_T/C homo ENSG00000198804 missense_variant aTa/aCa - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.03) benign(0.01) - 2886 m.7301A>G 7301 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_7301_A/G homo ENSG00000198804 synonymous_variant atA/atG - LOW SNV MT-CO1 protein_coding - - - 2887 m.7302T>C 7302 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_7302_T/C homo ENSG00000198804 synonymous_variant Tta/Cta - LOW SNV MT-CO1 protein_coding - - - 2888 m.7304A>G 7304 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7304_A/G homo ENSG00000198804 synonymous_variant ttA/ttG - LOW SNV MT-CO1 protein_coding - - - 2889 m.7309T>C 7309 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7309_T/C homo ENSG00000198804 missense_variant aTt/aCt rs1556423267 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.06) benign(0.031) - 2890 m.7310T>C 7310 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_7310_T/C homo ENSG00000198804 synonymous_variant atT/atC - LOW SNV MT-CO1 protein_coding - - - 2891 m.7313C>T 7313 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7313_C/T homo ENSG00000198804 synonymous_variant ttC/ttT - LOW SNV MT-CO1 protein_coding - - - 2892 m.7316G>A 7316 G A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7316_G/A homo ENSG00000198804 synonymous_variant atG/atA rs879015328 LOW SNV MT-CO1 protein_coding - - - 2893 m.7319T>C 7319 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_7319_T/C homo ENSG00000198804 synonymous_variant atT/atC - LOW SNV MT-CO1 protein_coding - - - 2894 m.7322A>G 7322 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7322_A/G homo ENSG00000198804 synonymous_variant tgA/tgG - LOW SNV MT-CO1 protein_coding - - - 2895 m.7325A>G 7325 A G 9 0.001238646 1 0.000137627 7266 0.001376273 MT_7325_A/G homo&heter ENSG00000198804 synonymous_variant gaA/gaG rs1556423269 LOW SNV MT-CO1 protein_coding - - - 2896 m.7329T>C 7329 T C 2 0.000275255 2 0.000275255 7266 0.000550509 MT_7329_T/C homo&heter ENSG00000198804 missense_variant Ttc/Ctc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.36) benign(0.003) - 2897 m.7331C>A 7331 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7331_C/A homo ENSG00000198804 missense_variant ttC/ttA - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.36) benign(0.003) - 2898 m.7334T>C 7334 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_7334_T/C homo&heter ENSG00000198804 synonymous_variant gcT/gcC - LOW SNV MT-CO1 protein_coding - - - 2899 m.7337G>A 7337 G A 57 0.007844756 2 0.000275255 7266 0.008120011 MT_7337_G/A homo&heter ENSG00000198804 synonymous_variant tcG/tcA rs386829005 LOW SNV MT-CO1 protein_coding - - - 2900 m.7340G>A 7340 G A 10 0.001376273 0 0.000000000 7266 0.001376273 MT_7340_G/A homo ENSG00000198804 synonymous_variant aaG/aaA rs878930990 LOW SNV MT-CO1 protein_coding - - - 2901 m.7342G>A 7342 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_7342_G/A heter ENSG00000198804 missense_variant cGa/cAa - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.972) - 2902 m.7346A>G 7346 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_7346_A/G homo&heter ENSG00000198804 synonymous_variant aaA/aaG - LOW SNV MT-CO1 protein_coding - - - 2903 m.7349C>T 7349 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7349_C/T homo ENSG00000198804 synonymous_variant gtC/gtT - LOW SNV MT-CO1 protein_coding - - - 2904 m.7353A>G 7353 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_7353_A/G homo&heter ENSG00000198804 missense_variant Ata/Gta - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.31) benign(0) - 2905 m.7354T>C 7354 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7354_T/C homo ENSG00000198804 missense_variant aTa/aCa - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.38) benign(0) - 2906 m.7356G>A 7356 G A 2 0.000275255 3 0.000412882 7266 0.000688137 MT_7356_G/A homo&heter ENSG00000198804 missense_variant Gta/Ata rs1556423271 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.25) benign(0.003) - 2907 m.7357T>C 7357 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7357_T/C homo ENSG00000198804 missense_variant gTa/gCa - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.57) benign(0) - 2908 m.7362G>A 7362 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7362_G/A homo ENSG00000198804 missense_variant Gaa/Aaa - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.29) benign(0) - 2909 m.7363A>G 7363 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7363_A/G homo ENSG00000198804 missense_variant gAa/gGa - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.33) benign(0) - 2910 m.7364A>C 7364 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7364_A/C homo ENSG00000198804 missense_variant gaA/gaC COSV62294196 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.21) benign(0) - 2911 m.7364A>G 7364 A G 29 0.003991192 1 0.000137627 7266 0.004128819 MT_7364_A/G homo&heter ENSG00000198804 synonymous_variant gaA/gaG rs376846215,COSV62294196 LOW SNV MT-CO1 protein_coding - - - 2912 m.7365C>T 7365 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7365_C/T heter ENSG00000198804 missense_variant Ccc/Tcc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.49) benign(0) - 2913 m.7367C>T 7367 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7367_C/T homo ENSG00000198804 synonymous_variant ccC/ccT - LOW SNV MT-CO1 protein_coding - - - 2914 m.7369C>G 7369 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7369_C/G homo ENSG00000198804 missense_variant tCc/tGc - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.06) benign(0.161) - 2915 m.7370C>T 7370 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7370_C/T homo ENSG00000198804 synonymous_variant tcC/tcT - LOW SNV MT-CO1 protein_coding - - - 2916 m.7372T>C 7372 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_7372_T/C homo ENSG00000198804 missense_variant aTa/aCa - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(1) benign(0) - 2917 m.7375A>G 7375 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_7375_A/G heter ENSG00000198804 missense_variant aAc/aGc rs1556423274 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(1) benign(0.001) - 2918 m.7376C>T 7376 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_7376_C/T homo ENSG00000198804 synonymous_variant aaC/aaT - LOW SNV MT-CO1 protein_coding - - - 2919 m.7377C>T 7377 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7377_C/T homo ENSG00000198804 synonymous_variant Ctg/Ttg - LOW SNV MT-CO1 protein_coding - - - 2920 m.7379G>A 7379 G A 6 0.000825764 0 0.000000000 7266 0.000825764 MT_7379_G/A homo ENSG00000198804 synonymous_variant ctG/ctA - LOW SNV MT-CO1 protein_coding - - - 2921 m.7381A>G 7381 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7381_A/G heter ENSG00000198804 missense_variant gAg/gGg - MODERATE SNV MT-CO1 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 2922 m.7382G>A 7382 G A 3 0.000412882 1 0.000137627 7266 0.000550509 MT_7382_G/A homo&heter ENSG00000198804 synonymous_variant gaG/gaA - LOW SNV MT-CO1 protein_coding - - - 2923 m.7385A>G 7385 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_7385_A/G homo ENSG00000198804 synonymous_variant tgA/tgG rs1556423277 LOW SNV MT-CO1 protein_coding - - - 2924 m.7388A>G 7388 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_7388_A/G homo ENSG00000198804 synonymous_variant ctA/ctG - LOW SNV MT-CO1 protein_coding - - - 2925 m.7388A>T 7388 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7388_A/T homo ENSG00000198804 synonymous_variant ctA/ctT - LOW SNV MT-CO1 protein_coding - - - 2926 m.7389T>C 7389 T C 181 0.024910542 0 0.000000000 7266 0.024910542 MT_7389_T/C homo ENSG00000198804 missense_variant Tat/Cat rs9783095 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(1) benign(0) - 2927 m.7391T>C 7391 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_7391_T/C homo&heter ENSG00000198804 synonymous_variant taT/taC rs1569484145 LOW SNV MT-CO1 protein_coding - - - 2928 m.7394A>G 7394 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_7394_A/G homo&heter ENSG00000198804 synonymous_variant ggA/ggG rs1556423280 LOW SNV MT-CO1 protein_coding - - - 2929 m.7397C>T 7397 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7397_C/T heter ENSG00000198804 synonymous_variant tgC/tgT - LOW SNV MT-CO1 protein_coding - - - 2930 m.7403A>G 7403 A G 33 0.004541701 1 0.000137627 7266 0.004679328 MT_7403_A/G homo&heter ENSG00000198804 synonymous_variant ccA/ccG rs386829006 LOW SNV MT-CO1 protein_coding - - - 2931 m.7407T>C 7407 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7407_T/C homo ENSG00000198804 missense_variant Tac/Cac rs201121626,COSV62293463 MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.42) benign(0.005) - 2932 m.7409C>T 7409 C T 4 0.000550509 1 0.000137627 7266 0.000688137 MT_7409_C/T homo&heter ENSG00000198804 synonymous_variant taC/taT - LOW SNV MT-CO1 protein_coding - - - 2933 m.7419G>A 7419 G A 7 0.000963391 2 0.000275255 7266 0.001238646 MT_7419_G/A homo&heter ENSG00000198804 missense_variant Gaa/Aaa - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.17) benign(0.087) - 2934 m.7424A>G 7424 A G 90 0.012386457 3 0.000412882 7266 0.012799339 MT_7424_A/G homo&heter ENSG00000198804 synonymous_variant gaA/gaG rs1556423282 LOW SNV MT-CO1 protein_coding - - - 2935 m.7430A>G 7430 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7430_A/G heter ENSG00000198804 synonymous_variant gtA/gtG rs28597765 LOW SNV MT-CO1 protein_coding - - - 2936 m.7433C>T 7433 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_7433_C/T homo ENSG00000198804 synonymous_variant taC/taT rs386829008 LOW SNV MT-CO1 protein_coding - - - 2937 m.7435TA>T 7435 TA T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7436_A/- heter ENSG00000198804 frameshift_variant atA/at - HIGH deletion MT-CO1 protein_coding - - - 2938 m.7436A>G 7436 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7436_A/G homo ENSG00000198804 synonymous_variant atA/atG - LOW SNV MT-CO1 protein_coding - - - 2939 m.7440T>C 7440 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_7440_T/C heter ENSG00000198804 missense_variant Tct/Cct - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.05) benign(0.03) - 2940 m.7440T>G 7440 T G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7440_T/G homo ENSG00000198804 missense_variant Tct/Gct - MODERATE SNV MT-CO1 protein_coding tolerated_low_confidence(0.26) benign(0) - 2941 m.7443A>G 7443 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7443_A/G homo ENSG00000198804 stop_lost Aga/Gga rs397507452 HIGH SNV MT-CO1 protein_coding - - pathogenic 2942 m.7444G>A 7444 G A 23 0.003165428 0 0.000000000 7266 0.003165428 MT_7444_G/A homo ENSG00000198804 stop_lost aGa/aAa rs199474822 HIGH SNV MT-CO1 protein_coding - - pathogenic,benign 2943 m.7445A>G 7445 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7445_A/G heter ENSG00000198804 stop_retained_variant agA/agG rs199474818 LOW SNV MT-CO1 protein_coding - - pathogenic 2944 m.7452A>G 7452 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7452_A/G heter ENSG00000210151 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS1 Mt_tRNA - - - 2945 m.7455A>G 7455 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7455_A/G homo ENSG00000210151 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS1 Mt_tRNA - - - 2946 m.7456A>G 7456 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7456_A/G homo ENSG00000210151 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS1 Mt_tRNA - - - 2947 m.7460A>G 7460 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_7460_A/G homo&heter ENSG00000210151 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS1 Mt_tRNA - - - 2948 m.7465A>AC 7465 A AC 0 0.000000000 4 0.000550509 7266 0.000550509 MT_7466_-/C heter ENSG00000210151 non_coding_transcript_exon_variant - - MODIFIER insertion MT-TS1 Mt_tRNA - - - 2949 m.7465AC>A 7465 AC A 6 0.000825764 1 0.000137627 7266 0.000963391 MT_7466_C/- homo&heter ENSG00000210151 non_coding_transcript_exon_variant - rs111033319 MODIFIER deletion MT-TS1 Mt_tRNA - - - 2950 m.7469C>T 7469 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7469_C/T heter ENSG00000210151 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS1 Mt_tRNA - - - 2951 m.7471C>T 7471 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7471_C/T homo ENSG00000210151 non_coding_transcript_exon_variant - rs397515726 MODIFIER SNV MT-TS1 Mt_tRNA - - likely_benign,benign 2952 m.7471CA>C 7471 CA C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7472_A/- heter ENSG00000210151 non_coding_transcript_exon_variant - - MODIFIER deletion MT-TS1 Mt_tRNA - - - 2953 m.7472A>C 7472 A C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7472_A/C homo ENSG00000210151 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS1 Mt_tRNA - - - 2954 m.7472A>G 7472 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7472_A/G homo ENSG00000210151 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS1 Mt_tRNA - - - 2955 m.7474A>G 7474 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_7474_A/G homo&heter ENSG00000210151 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS1 Mt_tRNA - - - 2956 m.7476C>T 7476 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_7476_C/T homo ENSG00000210151 non_coding_transcript_exon_variant - rs201950015 MODIFIER SNV MT-TS1 Mt_tRNA - - likely_benign,benign 2957 m.7490A>G 7490 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7490_A/G homo ENSG00000210151 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS1 Mt_tRNA - - - 2958 m.7492C>T 7492 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_7492_C/T homo ENSG00000210151 non_coding_transcript_exon_variant - rs879080411 MODIFIER SNV MT-TS1 Mt_tRNA - - - 2959 m.7493C>T 7493 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7493_C/T homo ENSG00000210151 non_coding_transcript_exon_variant - rs397515728 MODIFIER SNV MT-TS1 Mt_tRNA - - benign 2960 m.7495A>G 7495 A G 0 0.000000000 3 0.000412882 7266 0.000412882 MT_7495_A/G heter ENSG00000210151 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS1 Mt_tRNA - - - 2961 m.7497G>A 7497 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7497_G/A heter ENSG00000210151 non_coding_transcript_exon_variant - rs387906419 MODIFIER SNV MT-TS1 Mt_tRNA - - pathogenic 2962 m.7498G>A 7498 G A 11 0.001513900 2 0.000275255 7266 0.001789155 MT_7498_G/A homo&heter ENSG00000210151 non_coding_transcript_exon_variant - rs111033324 MODIFIER SNV MT-TS1 Mt_tRNA - - benign 2963 m.7501T>C 7501 T C 1 0.000137627 2 0.000275255 7266 0.000412882 MT_7501_T/C homo&heter ENSG00000210151 non_coding_transcript_exon_variant - rs1556423303 MODIFIER SNV MT-TS1 Mt_tRNA - - - 2964 m.7502C>T 7502 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7502_C/T homo ENSG00000210151 non_coding_transcript_exon_variant - rs876657868 MODIFIER SNV MT-TS1 Mt_tRNA - - uncertain_significance,likely_benign 2965 m.7508C>CT 7508 C CT 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7509_-/T homo ENSG00000210151 non_coding_transcript_exon_variant - - MODIFIER insertion MT-TS1 Mt_tRNA - - - 2966 m.7514C>CA 7514 C CA 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7515_-/A homo - intergenic_variant - - MODIFIER insertion - - - - - 2967 m.7516A>G 7516 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7516_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 2968 m.7521G>A 7521 G A 587 0.080787228 1 0.000137627 7266 0.080924855 MT_7521_G/A homo&heter ENSG00000210154 non_coding_transcript_exon_variant - rs200336937 MODIFIER SNV MT-TD Mt_tRNA - - - 2969 m.7524T>C 7524 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7524_T/C heter ENSG00000210154 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TD Mt_tRNA - - - 2970 m.7533C>T 7533 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_7533_C/T homo ENSG00000210154 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TD Mt_tRNA - - - 2971 m.7534C>T 7534 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7534_C/T homo ENSG00000210154 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TD Mt_tRNA - - - 2972 m.7542A>G 7542 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7542_A/G homo ENSG00000210154 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TD Mt_tRNA - - - 2973 m.7543A>G 7543 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_7543_A/G homo&heter ENSG00000210154 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TD Mt_tRNA - - - 2974 m.7551A>G 7551 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7551_A/G homo ENSG00000210154 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TD Mt_tRNA - - - 2975 m.7561T>C 7561 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7561_T/C homo ENSG00000210154 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TD Mt_tRNA - - - 2976 m.7562A>G 7562 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7562_A/G homo ENSG00000210154 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TD Mt_tRNA - - - 2977 m.7568T>C 7568 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7568_T/C homo ENSG00000210154 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TD Mt_tRNA - - - 2978 m.7569A>G 7569 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7569_A/G homo ENSG00000210154 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TD Mt_tRNA - - - 2979 m.7570A>G 7570 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7570_A/G homo ENSG00000210154 non_coding_transcript_exon_variant - rs1556423311 MODIFIER SNV MT-TD Mt_tRNA - - - 2980 m.7571A>G 7571 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7571_A/G heter ENSG00000210154 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TD Mt_tRNA - - - 2981 m.7572T>C 7572 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_7572_T/C homo ENSG00000210154 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TD Mt_tRNA - - - 2982 m.7575T>C 7575 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7575_T/C heter ENSG00000210154 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TD Mt_tRNA - - - 2983 m.7581T>C 7581 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_7581_T/C homo ENSG00000210154 non_coding_transcript_exon_variant - rs201582552 MODIFIER SNV MT-TD Mt_tRNA - - - 2984 m.7583T>C 7583 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7583_T/C heter ENSG00000210154 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TD Mt_tRNA - - - 2985 m.7589G>A 7589 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7589_G/A heter ENSG00000198712 missense_variant Gca/Aca - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) possibly_damaging(0.666) - 2986 m.7595G>A 7595 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7595_G/A heter ENSG00000198712 missense_variant Gca/Aca - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) benign(0.001) - 2987 m.7598G>A 7598 G A 39 0.005367465 3 0.000412882 7266 0.005780347 MT_7598_G/A homo&heter ENSG00000198712 missense_variant Gcg/Acg rs386420012 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.36) benign(0) - 2988 m.7600G>A 7600 G A 105 0.014450867 0 0.000000000 7266 0.014450867 MT_7600_G/A homo ENSG00000198712 synonymous_variant gcG/gcA rs386829010 LOW SNV MT-CO2 protein_coding - - - 2989 m.7604G>A 7604 G A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7604_G/A homo ENSG00000198712 missense_variant Gta/Ata - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.04) benign(0.005) - 2990 m.7605T>C 7605 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7605_T/C heter ENSG00000198712 missense_variant gTa/gCa - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) benign(0.04) - 2991 m.7607G>A 7607 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7607_G/A homo ENSG00000198712 missense_variant Ggt/Agt - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) benign(0.038) - 2992 m.7608G>A 7608 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7608_G/A heter ENSG00000198712 missense_variant gGt/gAt - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) possibly_damaging(0.646) - 2993 m.7609T>C 7609 T C 12 0.001651528 4 0.000550509 7266 0.002202037 MT_7609_T/C homo&heter ENSG00000198712 synonymous_variant ggT/ggC COSV62293676 LOW SNV MT-CO2 protein_coding - - - 2994 m.7610C>T 7610 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7610_C/T homo ENSG00000198712 synonymous_variant Cta/Tta - LOW SNV MT-CO2 protein_coding - - - 2995 m.7612A>G 7612 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7612_A/G heter ENSG00000198712 synonymous_variant ctA/ctG - LOW SNV MT-CO2 protein_coding - - - 2996 m.7621T>C 7621 T C 22 0.003027801 0 0.000000000 7266 0.003027801 MT_7621_T/C homo ENSG00000198712 synonymous_variant gcT/gcC rs1556423313 LOW SNV MT-CO2 protein_coding - - - 2997 m.7624T>A 7624 T A 105 0.014450867 0 0.000000000 7266 0.014450867 MT_7624_T/A homo ENSG00000198712 synonymous_variant acT/acA rs28358879 LOW SNV MT-CO2 protein_coding - - - 2998 m.7624T>C 7624 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7624_T/C homo ENSG00000198712 synonymous_variant acT/acC - LOW SNV MT-CO2 protein_coding - - - 2999 m.7630T>C 7630 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7630_T/C homo ENSG00000198712 synonymous_variant ccT/ccC - LOW SNV MT-CO2 protein_coding - - - 3000 m.7637G>A 7637 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7637_G/A heter ENSG00000198712 missense_variant Gaa/Aaa rs1556423314 MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.996) likely_benign,uncertain_significance 3001 m.7640G>A 7640 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7640_G/A heter ENSG00000198712 missense_variant Gag/Aag - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.991) - 3002 m.7642G>A 7642 G A 36 0.004954583 0 0.000000000 7266 0.004954583 MT_7642_G/A homo ENSG00000198712 synonymous_variant gaG/gaA - LOW SNV MT-CO2 protein_coding - - - 3003 m.7645T>C 7645 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_7645_T/C homo ENSG00000198712 synonymous_variant ctT/ctC rs1556423316 LOW SNV MT-CO2 protein_coding - - - 3004 m.7646A>G 7646 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7646_A/G homo ENSG00000198712 missense_variant Atc/Gtc - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.05) benign(0) - 3005 m.7647T>C 7647 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7647_T/C homo ENSG00000198712 missense_variant aTc/aCc - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.03) benign(0.062) - 3006 m.7648C>T 7648 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_7648_C/T homo ENSG00000198712 synonymous_variant atC/atT - LOW SNV MT-CO2 protein_coding - - - 3007 m.7652T>C 7652 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7652_T/C homo ENSG00000198712 missense_variant Ttt/Ctt - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.04) probably_damaging(0.993) - 3008 m.7654T>C 7654 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7654_T/C heter ENSG00000198712 synonymous_variant ttT/ttC - LOW SNV MT-CO2 protein_coding - - - 3009 m.7657T>C 7657 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_7657_T/C homo ENSG00000198712 synonymous_variant caT/caC rs1556423319 LOW SNV MT-CO2 protein_coding - - - 3010 m.7660T>C 7660 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_7660_T/C homo ENSG00000198712 synonymous_variant gaT/gaC - LOW SNV MT-CO2 protein_coding - - - 3011 m.7664G>A 7664 G A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7664_G/A homo ENSG00000198712 missense_variant Gcc/Acc rs879139393 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.49) benign(0.02) - 3012 m.7665C>T 7665 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7665_C/T homo ENSG00000198712 missense_variant gCc/gTc - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.02) benign(0.02) - 3013 m.7669C>T 7669 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_7669_C/T homo ENSG00000198712 synonymous_variant ctC/ctT - LOW SNV MT-CO2 protein_coding - - - 3014 m.7673A>G 7673 A G 12 0.001651528 0 0.000000000 7266 0.001651528 MT_7673_A/G homo ENSG00000198712 missense_variant Atc/Gtc rs1569484167 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.39) benign(0.028) - 3015 m.7674T>C 7674 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7674_T/C homo ENSG00000198712 missense_variant aTc/aCc rs1569484168 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.06) benign(0.019) - 3016 m.7678T>C 7678 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_7678_T/C homo&heter ENSG00000198712 synonymous_variant atT/atC - LOW SNV MT-CO2 protein_coding - - - 3017 m.7679T>C 7679 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7679_T/C homo ENSG00000198712 missense_variant Ttc/Ctc rs879003775 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.24) benign(0.009) - 3018 m.7681C>A 7681 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7681_C/A homo ENSG00000198712 missense_variant ttC/ttA - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.24) benign(0.009) - 3019 m.7681C>T 7681 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7681_C/T homo ENSG00000198712 synonymous_variant ttC/ttT - LOW SNV MT-CO2 protein_coding - - - 3020 m.7684T>C 7684 T C 264 0.036333609 0 0.000000000 7266 0.036333609 MT_7684_T/C homo ENSG00000198712 synonymous_variant ctT/ctC rs386420035 LOW SNV MT-CO2 protein_coding - - - 3021 m.7685A>G 7685 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7685_A/G homo ENSG00000198712 missense_variant Atc/Gtc rs1556423327 MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.02) benign(0.003) - 3022 m.7686T>C 7686 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7686_T/C homo ENSG00000198712 missense_variant aTc/aCc - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) possibly_damaging(0.625) - 3023 m.7691T>C 7691 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7691_T/C homo ENSG00000198712 missense_variant Ttc/Ctc - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) benign(0.007) - 3024 m.7692T>C 7692 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7692_T/C homo ENSG00000198712 missense_variant tTc/tCc rs370059789 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.42) possibly_damaging(0.656) - 3025 m.7693C>T 7693 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7693_C/T homo ENSG00000198712 synonymous_variant ttC/ttT COSV62293490 LOW SNV MT-CO2 protein_coding - - - 3026 m.7694C>T 7694 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7694_C/T homo ENSG00000198712 synonymous_variant Cta/Tta - LOW SNV MT-CO2 protein_coding - - - 3027 m.7697G>A 7697 G A 7 0.000963391 2 0.000275255 7266 0.001238646 MT_7697_G/A homo&heter ENSG00000198712 missense_variant Gtc/Atc rs879212765 MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.04) benign(0.014) - 3028 m.7700C>T 7700 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7700_C/T homo ENSG00000198712 synonymous_variant Ctg/Ttg - LOW SNV MT-CO2 protein_coding - - - 3029 m.7702G>A 7702 G A 8 0.001101018 1 0.000137627 7266 0.001238646 MT_7702_G/A homo&heter ENSG00000198712 synonymous_variant ctG/ctA - LOW SNV MT-CO2 protein_coding - - - 3030 m.7705T>C 7705 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_7705_T/C homo ENSG00000198712 synonymous_variant taT/taC rs1556423330 LOW SNV MT-CO2 protein_coding - - - 3031 m.7706G>A 7706 G A 8 0.001101018 1 0.000137627 7266 0.001238646 MT_7706_G/A homo&heter ENSG00000198712 missense_variant Gcc/Acc rs1556423333 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.21) benign(0.338) - 3032 m.7707C>T 7707 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7707_C/T heter ENSG00000198712 missense_variant gCc/gTc - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.11) benign(0.015) - 3033 m.7711T>C 7711 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_7711_T/C homo ENSG00000198712 synonymous_variant ctT/ctC rs372012410 LOW SNV MT-CO2 protein_coding - - - 3034 m.7713T>C 7713 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7713_T/C homo ENSG00000198712 missense_variant tTc/tCc - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.5) benign(0.011) - 3035 m.7715C>T 7715 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7715_C/T homo ENSG00000198712 synonymous_variant Cta/Tta - LOW SNV MT-CO2 protein_coding - - - 3036 m.7717A>G 7717 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7717_A/G homo ENSG00000198712 synonymous_variant ctA/ctG - LOW SNV MT-CO2 protein_coding - - - 3037 m.7718A>G 7718 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7718_A/G homo ENSG00000198712 missense_variant Aca/Gca rs1556423337 MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.02) benign(0.18) - 3038 m.7722T>C 7722 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7722_T/C heter ENSG00000198712 missense_variant cTc/cCc - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 3039 m.7724A>G 7724 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7724_A/G heter ENSG00000198712 missense_variant Aca/Gca - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.02) benign(0.063) - 3040 m.7729A>G 7729 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7729_A/G homo ENSG00000198712 synonymous_variant acA/acG rs1556423338 LOW SNV MT-CO2 protein_coding - - - 3041 m.7732A>G 7732 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7732_A/G homo ENSG00000198712 synonymous_variant aaA/aaG - LOW SNV MT-CO2 protein_coding - - - 3042 m.7738T>C 7738 T C 26 0.003578310 0 0.000000000 7266 0.003578310 MT_7738_T/C homo ENSG00000198712 synonymous_variant acT/acC rs878875354 LOW SNV MT-CO2 protein_coding - - - 3043 m.7740A>G 7740 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7740_A/G homo ENSG00000198712 missense_variant aAt/aGt - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.15) benign(0.035) - 3044 m.7741T>C 7741 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_7741_T/C homo ENSG00000198712 synonymous_variant aaT/aaC - LOW SNV MT-CO2 protein_coding - - - 3045 m.7743C>T 7743 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7743_C/T homo ENSG00000198712 missense_variant aCt/aTt - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.08) probably_damaging(0.999) - 3046 m.7744T>C 7744 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7744_T/C homo ENSG00000198712 synonymous_variant acT/acC - LOW SNV MT-CO2 protein_coding - - - 3047 m.7746A>G 7746 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7746_A/G homo ENSG00000198712 missense_variant aAc/aGc - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.52) benign(0.006) - 3048 m.7747C>T 7747 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7747_C/T homo ENSG00000198712 synonymous_variant aaC/aaT rs28608702 LOW SNV MT-CO2 protein_coding - - - 3049 m.7748A>G 7748 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7748_A/G homo ENSG00000198712 missense_variant Atc/Gtc - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.45) probably_damaging(0.943) - 3050 m.7750C>T 7750 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7750_C/T homo ENSG00000198712 synonymous_variant atC/atT - LOW SNV MT-CO2 protein_coding - - - 3051 m.7751T>C 7751 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7751_T/C homo ENSG00000198712 missense_variant Tca/Cca - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) benign(0.166) - 3052 m.7754G>A 7754 G A 4 0.000550509 1 0.000137627 7266 0.000688137 MT_7754_G/A homo&heter ENSG00000198712 missense_variant Gac/Aac rs1556423339 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.05) benign(0.01) - 3053 m.7754G>T 7754 G T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7754_G/T heter ENSG00000198712 missense_variant Gac/Tac - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.943) - 3054 m.7756C>T 7756 C T 2 0.000275255 1 0.000137627 7266 0.000412882 MT_7756_C/T homo&heter ENSG00000198712 synonymous_variant gaC/gaT - LOW SNV MT-CO2 protein_coding - - - 3055 m.7757G>A 7757 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_7757_G/A homo&heter ENSG00000198712 missense_variant Gct/Act - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.997) - 3056 m.7759T>C 7759 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_7759_T/C homo ENSG00000198712 synonymous_variant gcT/gcC rs1556423343 LOW SNV MT-CO2 protein_coding - - - 3057 m.7762G>A 7762 G A 8 0.001101018 1 0.000137627 7266 0.001238646 MT_7762_G/A homo&heter ENSG00000198712 synonymous_variant caG/caA rs1556423344 LOW SNV MT-CO2 protein_coding - - - 3058 m.7763G>A 7763 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7763_G/A heter ENSG00000198712 missense_variant Gaa/Aaa - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.991) - 3059 m.7765A>G 7765 A G 17 0.002339664 0 0.000000000 7266 0.002339664 MT_7765_A/G homo ENSG00000198712 synonymous_variant gaA/gaG rs374583423 LOW SNV MT-CO2 protein_coding - - - 3060 m.7766A>G 7766 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7766_A/G homo ENSG00000198712 missense_variant Ata/Gta - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.55) possibly_damaging(0.878) - 3061 m.7768A>G 7768 A G 54 0.007431874 0 0.000000000 7266 0.007431874 MT_7768_A/G homo ENSG00000198712 synonymous_variant atA/atG rs41534044 LOW SNV MT-CO2 protein_coding - - - 3062 m.7771A>G 7771 A G 202 0.027800716 3 0.000412882 7266 0.028213598 MT_7771_A/G homo&heter ENSG00000198712 synonymous_variant gaA/gaG rs368038563 LOW SNV MT-CO2 protein_coding - - - 3063 m.7772A>G 7772 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7772_A/G homo ENSG00000198712 missense_variant Acc/Gcc - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.02) benign(0.063) - 3064 m.7773C>T 7773 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7773_C/T homo ENSG00000198712 missense_variant aCc/aTc - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(1) benign(0.013) - 3065 m.7774C>T 7774 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7774_C/T homo ENSG00000198712 synonymous_variant acC/acT rs1556423345 LOW SNV MT-CO2 protein_coding - - - 3066 m.7775G>A 7775 G A 7 0.000963391 2 0.000275255 7266 0.001238646 MT_7775_G/A homo&heter ENSG00000198712 missense_variant Gtc/Atc rs1556423347 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(1) benign(0) - 3067 m.7777C>T 7777 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7777_C/T homo ENSG00000198712 synonymous_variant gtC/gtT - LOW SNV MT-CO2 protein_coding - - - 3068 m.7783T>C 7783 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_7783_T/C homo ENSG00000198712 synonymous_variant acT/acC - LOW SNV MT-CO2 protein_coding - - - 3069 m.7784A>G 7784 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7784_A/G heter ENSG00000198712 missense_variant Atc/Gtc rs1556423348 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.49) benign(0) - 3070 m.7785T>C 7785 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7785_T/C homo ENSG00000198712 missense_variant aTc/aCc - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.02) benign(0.005) - 3071 m.7786C>T 7786 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7786_C/T homo ENSG00000198712 synonymous_variant atC/atT - LOW SNV MT-CO2 protein_coding - - - 3072 m.7787C>T 7787 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7787_C/T homo ENSG00000198712 synonymous_variant Ctg/Ttg - LOW SNV MT-CO2 protein_coding - - - 3073 m.7789G>A 7789 G A 47 0.006468483 1 0.000137627 7266 0.006606111 MT_7789_G/A homo&heter ENSG00000198712 synonymous_variant ctG/ctA rs386829014 LOW SNV MT-CO2 protein_coding - - benign 3074 m.7792C>A 7792 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7792_C/A homo ENSG00000198712 synonymous_variant ccC/ccA - LOW SNV MT-CO2 protein_coding - - - 3075 m.7792C>T 7792 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7792_C/T homo ENSG00000198712 synonymous_variant ccC/ccT - LOW SNV MT-CO2 protein_coding - - - 3076 m.7795C>T 7795 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_7795_C/T homo&heter ENSG00000198712 synonymous_variant gcC/gcT - LOW SNV MT-CO2 protein_coding - - - 3077 m.7796A>G 7796 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7796_A/G homo ENSG00000198712 missense_variant Atc/Gtc - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.52) benign(0) - 3078 m.7798C>T 7798 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_7798_C/T homo&heter ENSG00000198712 synonymous_variant atC/atT - LOW SNV MT-CO2 protein_coding - - - 3079 m.7804A>G 7804 A G 4 0.000550509 1 0.000137627 7266 0.000688137 MT_7804_A/G homo&heter ENSG00000198712 synonymous_variant ctA/ctG - LOW SNV MT-CO2 protein_coding - - - 3080 m.7805G>A 7805 G A 37 0.005092210 0 0.000000000 7266 0.005092210 MT_7805_G/A homo ENSG00000198712 missense_variant Gtc/Atc rs879119797,COSV62294099 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(1) benign(0.005) - 3081 m.7808C>T 7808 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7808_C/T homo ENSG00000198712 missense_variant Ctc/Ttc - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.1) probably_damaging(0.996) - 3082 m.7810C>T 7810 C T 5 0.000688137 1 0.000137627 7266 0.000825764 MT_7810_C/T homo&heter ENSG00000198712 synonymous_variant ctC/ctT COSV62293299 LOW SNV MT-CO2 protein_coding - - - 3083 m.7813C>T 7813 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_7813_C/T homo&heter ENSG00000198712 synonymous_variant atC/atT - LOW SNV MT-CO2 protein_coding - - - 3084 m.7816C>T 7816 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7816_C/T homo ENSG00000198712 synonymous_variant gcC/gcT - LOW SNV MT-CO2 protein_coding - - - 3085 m.7818T>C 7818 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7818_T/C heter ENSG00000198712 missense_variant cTc/cCc - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.916) - 3086 m.7819C>A 7819 C A 27 0.003715937 0 0.000000000 7266 0.003715937 MT_7819_C/A homo ENSG00000198712 synonymous_variant ctC/ctA rs878853024 LOW SNV MT-CO2 protein_coding - - likely_benign 3087 m.7819C>G 7819 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7819_C/G homo ENSG00000198712 synonymous_variant ctC/ctG - LOW SNV MT-CO2 protein_coding - - - 3088 m.7819C>T 7819 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7819_C/T homo ENSG00000198712 synonymous_variant ctC/ctT - LOW SNV MT-CO2 protein_coding - - - 3089 m.7822A>G 7822 A G 12 0.001651528 1 0.000137627 7266 0.001789155 MT_7822_A/G homo&heter ENSG00000198712 synonymous_variant ccA/ccG - LOW SNV MT-CO2 protein_coding - - - 3090 m.7825C>T 7825 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7825_C/T homo ENSG00000198712 synonymous_variant tcC/tcT - LOW SNV MT-CO2 protein_coding - - - 3091 m.7827T>C 7827 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7827_T/C heter ENSG00000198712 missense_variant cTa/cCa - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 3092 m.7828A>G 7828 A G 159 0.021882742 0 0.000000000 7266 0.021882742 MT_7828_A/G homo ENSG00000198712 synonymous_variant ctA/ctG - LOW SNV MT-CO2 protein_coding - - - 3093 m.7828A>T 7828 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7828_A/T homo ENSG00000198712 synonymous_variant ctA/ctT - LOW SNV MT-CO2 protein_coding - - - 3094 m.7830G>A 7830 G A 14 0.001926782 0 0.000000000 7266 0.001926782 MT_7830_G/A homo ENSG00000198712 missense_variant cGc/cAc rs878897170,COSV62293506 MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 3095 m.7831C>T 7831 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_7831_C/T homo ENSG00000198712 synonymous_variant cgC/cgT - LOW SNV MT-CO2 protein_coding - - - 3096 m.7840C>T 7840 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7840_C/T homo ENSG00000198712 synonymous_variant taC/taT - LOW SNV MT-CO2 protein_coding - - - 3097 m.7842T>C 7842 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7842_T/C homo ENSG00000198712 missense_variant aTa/aCa - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) benign(0.005) - 3098 m.7843A>G 7843 A G 12 0.001651528 0 0.000000000 7266 0.001651528 MT_7843_A/G homo ENSG00000198712 synonymous_variant atA/atG rs879114083 LOW SNV MT-CO2 protein_coding - - - 3099 m.7844A>G 7844 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_7844_A/G homo ENSG00000198712 missense_variant Aca/Gca rs1556423353 MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) benign(0.005) - 3100 m.7849C>T 7849 C T 16 0.002202037 1 0.000137627 7266 0.002339664 MT_7849_C/T homo&heter ENSG00000198712 synonymous_variant gaC/gaT rs386829015 LOW SNV MT-CO2 protein_coding - - - 3101 m.7850G>A 7850 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7850_G/A heter ENSG00000198712 missense_variant Gag/Aag - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.965) - 3102 m.7852G>A 7852 G A 13 0.001789155 0 0.000000000 7266 0.001789155 MT_7852_G/A homo ENSG00000198712 synonymous_variant gaG/gaA rs199751156 LOW SNV MT-CO2 protein_coding - - - 3103 m.7853G>A 7853 G A 338 0.046518029 1 0.000137627 7266 0.046655656 MT_7853_G/A homo&heter ENSG00000198712 missense_variant Gtc/Atc rs386420037,COSV62294523 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(1) benign(0) - 3104 m.7854T>C 7854 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_7854_T/C homo&heter ENSG00000198712 missense_variant gTc/gCc COSV62294095 MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) benign(0.035) - 3105 m.7857A>G 7857 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7857_A/G heter ENSG00000198712 missense_variant aAc/aGc - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.24) possibly_damaging(0.868) - 3106 m.7858C>T 7858 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_7858_C/T homo ENSG00000198712 synonymous_variant aaC/aaT COSV62293493 LOW SNV MT-CO2 protein_coding - - - 3107 m.7859G>A 7859 G A 44 0.006055601 2 0.000275255 7266 0.006330856 MT_7859_G/A homo&heter ENSG00000198712 missense_variant Gat/Aat rs373105186 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.77) benign(0.001) - 3108 m.7861T>C 7861 T C 106 0.014588494 0 0.000000000 7266 0.014588494 MT_7861_T/C homo ENSG00000198712 synonymous_variant gaT/gaC rs368623956 LOW SNV MT-CO2 protein_coding - - likely_benign 3109 m.7864C>T 7864 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_7864_C/T homo ENSG00000198712 synonymous_variant ccC/ccT rs879034269 LOW SNV MT-CO2 protein_coding - - - 3110 m.7865T>C 7865 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_7865_T/C heter ENSG00000198712 missense_variant Tcc/Ccc - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.978) - 3111 m.7867C>T 7867 C T 146 0.020093587 0 0.000000000 7266 0.020093587 MT_7867_C/T homo ENSG00000198712 synonymous_variant tcC/tcT rs9783079 LOW SNV MT-CO2 protein_coding - - likely_benign 3112 m.7868C>T 7868 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7868_C/T homo ENSG00000198712 missense_variant Ctt/Ttt rs1556423357 MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.03) benign(0.001) - 3113 m.7869T>C 7869 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7869_T/C heter ENSG00000198712 missense_variant cTt/cCt - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) possibly_damaging(0.832) - 3114 m.7870T>C 7870 T C 9 0.001238646 2 0.000275255 7266 0.001513900 MT_7870_T/C homo&heter ENSG00000198712 synonymous_variant ctT/ctC rs879088920 LOW SNV MT-CO2 protein_coding - - - 3115 m.7873C>T 7873 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7873_C/T homo ENSG00000198712 synonymous_variant acC/acT rs879161183 LOW SNV MT-CO2 protein_coding - - - 3116 m.7879A>G 7879 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_7879_A/G homo ENSG00000198712 synonymous_variant aaA/aaG - LOW SNV MT-CO2 protein_coding - - - 3117 m.7883A>G 7883 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7883_A/G heter ENSG00000198712 missense_variant Att/Gtt - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.41) benign(0.003) - 3118 m.7885T>C 7885 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_7885_T/C homo&heter ENSG00000198712 synonymous_variant atT/atC rs386829019 LOW SNV MT-CO2 protein_coding - - - 3119 m.7888C>T 7888 C T 7 0.000963391 2 0.000275255 7266 0.001238646 MT_7888_C/T homo&heter ENSG00000198712 synonymous_variant ggC/ggT - LOW SNV MT-CO2 protein_coding - - - 3120 m.7894A>G 7894 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7894_A/G heter ENSG00000198712 synonymous_variant caA/caG rs386829020 LOW SNV MT-CO2 protein_coding - - - 3121 m.7897G>A 7897 G A 14 0.001926782 1 0.000137627 7266 0.002064410 MT_7897_G/A homo&heter ENSG00000198712 synonymous_variant tgG/tgA - LOW SNV MT-CO2 protein_coding - - - 3122 m.7903A>G 7903 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7903_A/G homo ENSG00000198712 synonymous_variant tgA/tgG rs879037571 LOW SNV MT-CO2 protein_coding - - - 3123 m.7904A>G 7904 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7904_A/G homo ENSG00000198712 missense_variant Acc/Gcc - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) benign(0.006) - 3124 m.7906C>T 7906 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7906_C/T homo ENSG00000198712 synonymous_variant acC/acT - LOW SNV MT-CO2 protein_coding - - - 3125 m.7909C>T 7909 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7909_C/T homo ENSG00000198712 synonymous_variant taC/taT - LOW SNV MT-CO2 protein_coding - - - 3126 m.7912G>A 7912 G A 30 0.004128819 0 0.000000000 7266 0.004128819 MT_7912_G/A homo ENSG00000198712 synonymous_variant gaG/gaA - LOW SNV MT-CO2 protein_coding - - - 3127 m.7915C>T 7915 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_7915_C/T homo ENSG00000198712 synonymous_variant taC/taT - LOW SNV MT-CO2 protein_coding - - - 3128 m.7916A>G 7916 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7916_A/G heter ENSG00000198712 missense_variant Acc/Gcc - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.99) - 3129 m.7918C>T 7918 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7918_C/T homo ENSG00000198712 synonymous_variant acC/acT - LOW SNV MT-CO2 protein_coding - - - 3130 m.7919G>A 7919 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7919_G/A heter ENSG00000198712 missense_variant Gac/Aac - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.05) probably_damaging(0.999) - 3131 m.7923A>G 7923 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7923_A/G heter ENSG00000198712 missense_variant tAc/tGc - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.951) - 3132 m.7924C>T 7924 C T 2 0.000275255 1 0.000137627 7266 0.000412882 MT_7924_C/T homo&heter ENSG00000198712 synonymous_variant taC/taT - LOW SNV MT-CO2 protein_coding - - - 3133 m.7925G>A 7925 G A 0 0.000000000 4 0.000550509 7266 0.000550509 MT_7925_G/A heter ENSG00000198712 missense_variant Ggc/Agc - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.11) possibly_damaging(0.778) - 3134 m.7927C>T 7927 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7927_C/T homo ENSG00000198712 synonymous_variant ggC/ggT - LOW SNV MT-CO2 protein_coding - - - 3135 m.7930A>G 7930 A G 4 0.000550509 1 0.000137627 7266 0.000688137 MT_7930_A/G homo&heter ENSG00000198712 synonymous_variant ggA/ggG rs879098852 LOW SNV MT-CO2 protein_coding - - - 3136 m.7930A>T 7930 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7930_A/T homo ENSG00000198712 synonymous_variant ggA/ggT rs879098852 LOW SNV MT-CO2 protein_coding - - - 3137 m.7933A>G 7933 A G 15 0.002064410 0 0.000000000 7266 0.002064410 MT_7933_A/G homo ENSG00000198712 synonymous_variant ctA/ctG rs1556423364 LOW SNV MT-CO2 protein_coding - - - 3138 m.7934A>G 7934 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7934_A/G homo ENSG00000198712 missense_variant Atc/Gtc rs374261450 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.2) benign(0.001) - 3139 m.7935T>C 7935 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7935_T/C homo ENSG00000198712 missense_variant aTc/aCc - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.64) benign(0.136) - 3140 m.7942C>T 7942 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7942_C/T homo ENSG00000198712 synonymous_variant aaC/aaT - LOW SNV MT-CO2 protein_coding - - - 3141 m.7948C>T 7948 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_7948_C/T homo ENSG00000198712 synonymous_variant taC/taT - LOW SNV MT-CO2 protein_coding - - - 3142 m.7954T>C 7954 T C 4 0.000550509 1 0.000137627 7266 0.000688137 MT_7954_T/C homo&heter ENSG00000198712 synonymous_variant ctT/ctC - LOW SNV MT-CO2 protein_coding - - - 3143 m.7954T>G 7954 T G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7954_T/G homo ENSG00000198712 synonymous_variant ctT/ctG - LOW SNV MT-CO2 protein_coding - - - 3144 m.7958C>T 7958 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7958_C/T homo ENSG00000198712 missense_variant Cca/Tca - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.07) benign(0.043) - 3145 m.7960A>C 7960 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_7960_A/C homo ENSG00000198712 synonymous_variant ccA/ccC rs386829021 LOW SNV MT-CO2 protein_coding - - - 3146 m.7960A>G 7960 A G 11 0.001513900 0 0.000000000 7266 0.001513900 MT_7960_A/G homo ENSG00000198712 synonymous_variant ccA/ccG rs386829021 LOW SNV MT-CO2 protein_coding - - - 3147 m.7961T>C 7961 T C 34 0.004679328 0 0.000000000 7266 0.004679328 MT_7961_T/C homo ENSG00000198712 synonymous_variant Tta/Cta rs373420717 LOW SNV MT-CO2 protein_coding - - - 3148 m.7962T>C 7962 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7962_T/C homo ENSG00000198712 missense_variant tTa/tCa - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.18) probably_damaging(0.998) - 3149 m.7963A>G 7963 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7963_A/G homo ENSG00000198712 synonymous_variant ttA/ttG rs879023568 LOW SNV MT-CO2 protein_coding - - - 3150 m.7964T>C 7964 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_7964_T/C homo&heter ENSG00000198712 missense_variant Ttc/Ctc rs1556423367 MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.99) - 3151 m.7967C>T 7967 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7967_C/T homo ENSG00000198712 synonymous_variant Cta/Tta rs879113777 LOW SNV MT-CO2 protein_coding - - - 3152 m.7972A>G 7972 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_7972_A/G homo ENSG00000198712 synonymous_variant gaA/gaG rs878954138 LOW SNV MT-CO2 protein_coding - - - 3153 m.7975A>G 7975 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_7975_A/G homo ENSG00000198712 synonymous_variant ccA/ccG - LOW SNV MT-CO2 protein_coding - - - 3154 m.7976G>A 7976 G A 2 0.000275255 1 0.000137627 7266 0.000412882 MT_7976_G/A homo&heter ENSG00000198712 missense_variant Ggc/Agc rs377368526 MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 3155 m.7978C>A 7978 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7978_C/A homo ENSG00000198712 synonymous_variant ggC/ggA - LOW SNV MT-CO2 protein_coding - - - 3156 m.7978C>T 7978 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_7978_C/T homo ENSG00000198712 synonymous_variant ggC/ggT rs878951731 LOW SNV MT-CO2 protein_coding - - - 3157 m.7979G>A 7979 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_7979_G/A homo ENSG00000198712 missense_variant Gac/Aac - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.998) - 3158 m.7981C>T 7981 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_7981_C/T homo ENSG00000198712 synonymous_variant gaC/gaT - LOW SNV MT-CO2 protein_coding - - - 3159 m.7984G>A 7984 G A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_7984_G/A homo ENSG00000198712 synonymous_variant ctG/ctA rs1556423372 LOW SNV MT-CO2 protein_coding - - - 3160 m.7986G>A 7986 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7986_G/A heter ENSG00000198712 missense_variant cGa/cAa - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 3161 m.7990C>T 7990 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_7990_C/T homo ENSG00000198712 synonymous_variant ctC/ctT rs878965568 LOW SNV MT-CO2 protein_coding - - - 3162 m.7991C>T 7991 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_7991_C/T heter ENSG00000198712 missense_variant Ctt/Ttt - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 3163 m.7993T>C 7993 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_7993_T/C homo ENSG00000198712 synonymous_variant ctT/ctC - LOW SNV MT-CO2 protein_coding - - - 3164 m.7999T>C 7999 T C 32 0.004404074 0 0.000000000 7266 0.004404074 MT_7999_T/C homo ENSG00000198712 synonymous_variant gtT/gtC - LOW SNV MT-CO2 protein_coding - - - 3165 m.8002C>T 8002 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8002_C/T homo ENSG00000198712 synonymous_variant gaC/gaT - LOW SNV MT-CO2 protein_coding - - - 3166 m.8005T>C 8005 T C 1 0.000137627 2 0.000275255 7266 0.000412882 MT_8005_T/C homo&heter ENSG00000198712 synonymous_variant aaT/aaC - LOW SNV MT-CO2 protein_coding - - - 3167 m.8007G>A 8007 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8007_G/A heter ENSG00000198712 missense_variant cGa/cAa - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.996) - 3168 m.8009G>A 8009 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8009_G/A homo ENSG00000198712 missense_variant Gta/Ata rs199474826 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(1) probably_damaging(0.998) pathogenic 3169 m.8010T>C 8010 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8010_T/C heter ENSG00000198712 missense_variant gTa/gCa - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.995) - 3170 m.8014A>G 8014 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8014_A/G homo ENSG00000198712 synonymous_variant gtA/gtG rs879223416 LOW SNV MT-CO2 protein_coding - - - 3171 m.8014A>T 8014 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8014_A/T homo ENSG00000198712 synonymous_variant gtA/gtT rs879223416 LOW SNV MT-CO2 protein_coding - - - 3172 m.8020G>A 8020 G A 221 0.030415634 0 0.000000000 7266 0.030415634 MT_8020_G/A homo ENSG00000198712 synonymous_variant ccG/ccA rs879077802 LOW SNV MT-CO2 protein_coding - - - 3173 m.8020G>T 8020 G T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8020_G/T homo ENSG00000198712 synonymous_variant ccG/ccT - LOW SNV MT-CO2 protein_coding - - - 3174 m.8022T>C 8022 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8022_T/C homo ENSG00000198712 missense_variant aTt/aCt rs1556423376 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.51) benign(0.136) - 3175 m.8023T>C 8023 T C 11 0.001513900 0 0.000000000 7266 0.001513900 MT_8023_T/C homo ENSG00000198712 synonymous_variant atT/atC rs879039143 LOW SNV MT-CO2 protein_coding - - - 3176 m.8026A>G 8026 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8026_A/G homo ENSG00000198712 synonymous_variant gaA/gaG - LOW SNV MT-CO2 protein_coding - - - 3177 m.8027G>A 8027 G A 236 0.032480044 0 0.000000000 7266 0.032480044 MT_8027_G/A homo ENSG00000198712 missense_variant Gcc/Acc rs1116904 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.18) probably_damaging(0.998) - 3178 m.8029C>T 8029 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8029_C/T homo ENSG00000198712 synonymous_variant gcC/gcT - LOW SNV MT-CO2 protein_coding - - - 3179 m.8036C>A 8036 C A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8036_C/A heter ENSG00000198712 missense_variant Cgt/Agt - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 3180 m.8038T>C 8038 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8038_T/C homo ENSG00000198712 synonymous_variant cgT/cgC - LOW SNV MT-CO2 protein_coding - - - 3181 m.8041A>G 8041 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8041_A/G homo ENSG00000198712 synonymous_variant atA/atG rs1556423379 LOW SNV MT-CO2 protein_coding - - - 3182 m.8047T>C 8047 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_8047_T/C homo ENSG00000198712 synonymous_variant atT/atC rs386829022 LOW SNV MT-CO2 protein_coding - - uncertain_significance 3183 m.8056A>G 8056 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8056_A/G homo ENSG00000198712 synonymous_variant caA/caG - LOW SNV MT-CO2 protein_coding - - - 3184 m.8059C>T 8059 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8059_C/T homo ENSG00000198712 synonymous_variant gaC/gaT - LOW SNV MT-CO2 protein_coding - - - 3185 m.8060G>A 8060 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_8060_G/A heter ENSG00000198712 missense_variant Gtc/Atc - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.975) - 3186 m.8062C>T 8062 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8062_C/T homo ENSG00000198712 synonymous_variant gtC/gtT - LOW SNV MT-CO2 protein_coding - - - 3187 m.8063T>C 8063 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8063_T/C homo ENSG00000198712 synonymous_variant Ttg/Ctg - LOW SNV MT-CO2 protein_coding - - - 3188 m.8065G>A 8065 G A 17 0.002339664 0 0.000000000 7266 0.002339664 MT_8065_G/A homo ENSG00000198712 synonymous_variant ttG/ttA rs879168068 LOW SNV MT-CO2 protein_coding - - - 3189 m.8071A>C 8071 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8071_A/C homo ENSG00000198712 synonymous_variant tcA/tcC - LOW SNV MT-CO2 protein_coding - - - 3190 m.8074A>G 8074 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_8074_A/G homo ENSG00000198712 synonymous_variant tgA/tgG rs386829023 LOW SNV MT-CO2 protein_coding - - - 3191 m.8075G>A 8075 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_8075_G/A heter ENSG00000198712 missense_variant Gct/Act rs386829024 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.22) benign(0.001) - 3192 m.8077T>C 8077 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8077_T/C homo ENSG00000198712 synonymous_variant gcT/gcC - LOW SNV MT-CO2 protein_coding - - - 3193 m.8078G>A 8078 G A 3 0.000412882 1 0.000137627 7266 0.000550509 MT_8078_G/A homo&heter ENSG00000198712 missense_variant Gtc/Atc rs878993263 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.32) benign(0) - 3194 m.8080C>A 8080 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8080_C/A homo ENSG00000198712 synonymous_variant gtC/gtA rs371628304 LOW SNV MT-CO2 protein_coding - - - 3195 m.8080C>T 8080 C T 37 0.005092210 0 0.000000000 7266 0.005092210 MT_8080_C/T homo ENSG00000198712 synonymous_variant gtC/gtT - LOW SNV MT-CO2 protein_coding - - - 3196 m.8084A>G 8084 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8084_A/G homo ENSG00000198712 missense_variant Aca/Gca rs1057518824 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.63) benign(0.001) likely_benign,uncertain_significance 3197 m.8087T>C 8087 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_8087_T/C homo ENSG00000198712 synonymous_variant Tta/Cta rs28358882 LOW SNV MT-CO2 protein_coding - - - 3198 m.8089A>G 8089 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8089_A/G heter ENSG00000198712 synonymous_variant ttA/ttG - LOW SNV MT-CO2 protein_coding - - - 3199 m.8093T>C 8093 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_8093_T/C homo ENSG00000198712 synonymous_variant Tta/Cta - LOW SNV MT-CO2 protein_coding - - - 3200 m.8095A>G 8095 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8095_A/G homo ENSG00000198712 synonymous_variant ttA/ttG - LOW SNV MT-CO2 protein_coding - - - 3201 m.8104T>C 8104 T C 19 0.002614919 0 0.000000000 7266 0.002614919 MT_8104_T/C homo ENSG00000198712 synonymous_variant gaT/gaC rs375445398,COSV62293510 LOW SNV MT-CO2 protein_coding - - - 3202 m.8108A>G 8108 A G 37 0.005092210 1 0.000137627 7266 0.005229838 MT_8108_A/G homo&heter ENSG00000198712 missense_variant Att/Gtt - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.99) benign(0.003) - 3203 m.8109T>C 8109 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8109_T/C heter ENSG00000198712 missense_variant aTt/aCt - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) possibly_damaging(0.904) - 3204 m.8110T>C 8110 T C 36 0.004954583 0 0.000000000 7266 0.004954583 MT_8110_T/C homo ENSG00000198712 synonymous_variant atT/atC rs386829025 LOW SNV MT-CO2 protein_coding - - - 3205 m.8116A>G 8116 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8116_A/G homo ENSG00000198712 synonymous_variant ggA/ggG - LOW SNV MT-CO2 protein_coding - - - 3206 m.8116A>T 8116 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8116_A/T homo ENSG00000198712 synonymous_variant ggA/ggT - LOW SNV MT-CO2 protein_coding - - - 3207 m.8119T>C 8119 T C 14 0.001926782 0 0.000000000 7266 0.001926782 MT_8119_T/C homo ENSG00000198712 synonymous_variant cgT/cgC rs1556423393,COSV62292989 LOW SNV MT-CO2 protein_coding - - - 3208 m.8130C>T 8130 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8130_C/T homo ENSG00000198712 missense_variant aCc/aTc - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.04) possibly_damaging(0.446) - 3209 m.8137C>T 8137 C T 20 0.002752546 0 0.000000000 7266 0.002752546 MT_8137_C/T homo ENSG00000198712 synonymous_variant ttC/ttT rs879043235 LOW SNV MT-CO2 protein_coding - - - 3210 m.8140C>T 8140 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8140_C/T homo ENSG00000198712 synonymous_variant acC/acT - LOW SNV MT-CO2 protein_coding - - - 3211 m.8141G>A 8141 G A 0 0.000000000 5 0.000688137 7266 0.000688137 MT_8141_G/A heter ENSG00000198712 missense_variant Gct/Act COSV62293803 MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.78) probably_damaging(0.998) - 3212 m.8143T>C 8143 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_8143_T/C homo ENSG00000198712 synonymous_variant gcT/gcC - LOW SNV MT-CO2 protein_coding - - - 3213 m.8149A>G 8149 A G 61 0.008395266 1 0.000137627 7266 0.008532893 MT_8149_A/G homo&heter ENSG00000198712 synonymous_variant cgA/cgG rs386829027 LOW SNV MT-CO2 protein_coding - - - 3214 m.8152G>A 8152 G A 16 0.002202037 2 0.000275255 7266 0.002477291 MT_8152_G/A homo&heter ENSG00000198712 synonymous_variant ccG/ccA - LOW SNV MT-CO2 protein_coding - - - 3215 m.8154G>A 8154 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8154_G/A heter ENSG00000198712 missense_variant gGg/gAg - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 3216 m.8155G>A 8155 G A 24 0.003303055 1 0.000137627 7266 0.003440683 MT_8155_G/A homo&heter ENSG00000198712 synonymous_variant ggG/ggA rs374052533,COSV62292969 LOW SNV MT-CO2 protein_coding - - - 3217 m.8157T>C 8157 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8157_T/C heter ENSG00000198712 missense_variant gTa/gCa - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) benign(0.009) - 3218 m.8158A>G 8158 A G 11 0.001513900 1 0.000137627 7266 0.001651528 MT_8158_A/G homo&heter ENSG00000198712 synonymous_variant gtA/gtG rs879131264 LOW SNV MT-CO2 protein_coding - - - 3219 m.8161C>T 8161 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_8161_C/T homo&heter ENSG00000198712 synonymous_variant taC/taT - LOW SNV MT-CO2 protein_coding - - - 3220 m.8167T>C 8167 T C 19 0.002614919 1 0.000137627 7266 0.002752546 MT_8167_T/C homo&heter ENSG00000198712 synonymous_variant ggT/ggC rs386829028 LOW SNV MT-CO2 protein_coding - - - 3221 m.8170A>G 8170 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8170_A/G homo ENSG00000198712 synonymous_variant caA/caG - LOW SNV MT-CO2 protein_coding - - - 3222 m.8173C>T 8173 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8173_C/T homo ENSG00000198712 synonymous_variant tgC/tgT - LOW SNV MT-CO2 protein_coding - - - 3223 m.8176T>C 8176 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8176_T/C homo ENSG00000198712 synonymous_variant tcT/tcC rs1569484191 LOW SNV MT-CO2 protein_coding - - - 3224 m.8179A>G 8179 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8179_A/G homo ENSG00000198712 synonymous_variant gaA/gaG - LOW SNV MT-CO2 protein_coding - - - 3225 m.8182C>T 8182 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8182_C/T homo ENSG00000198712 synonymous_variant atC/atT - LOW SNV MT-CO2 protein_coding - - - 3226 m.8185T>C 8185 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8185_T/C homo ENSG00000198712 synonymous_variant tgT/tgC COSV62293807 LOW SNV MT-CO2 protein_coding - - - 3227 m.8188A>G 8188 A G 22 0.003027801 1 0.000137627 7266 0.003165428 MT_8188_A/G homo&heter ENSG00000198712 synonymous_variant ggA/ggG rs28651339 LOW SNV MT-CO2 protein_coding - - - 3228 m.8189G>A 8189 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8189_G/A heter ENSG00000198712 missense_variant Gca/Aca - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.02) benign(0.025) - 3229 m.8191A>G 8191 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_8191_A/G homo ENSG00000198712 synonymous_variant gcA/gcG - LOW SNV MT-CO2 protein_coding - - - 3230 m.8195C>T 8195 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8195_C/T heter ENSG00000198712 missense_variant Cac/Tac - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.988) - 3231 m.8200T>C 8200 T C 58 0.007982384 0 0.000000000 7266 0.007982384 MT_8200_T/C homo ENSG00000198712 synonymous_variant agT/agC rs1556423409,COSV62293100 LOW SNV MT-CO2 protein_coding - - - 3232 m.8206G>A 8206 G A 329 0.045279383 1 0.000137627 7266 0.045417011 MT_8206_G/A homo&heter ENSG00000198712 synonymous_variant atG/atA rs28358883 LOW SNV MT-CO2 protein_coding - - - 3233 m.8212C>T 8212 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8212_C/T homo ENSG00000198712 synonymous_variant atC/atT rs879053943 LOW SNV MT-CO2 protein_coding - - - 3234 m.8215C>T 8215 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8215_C/T homo ENSG00000198712 synonymous_variant gtC/gtT - LOW SNV MT-CO2 protein_coding - - - 3235 m.8216C>T 8216 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8216_C/T homo ENSG00000198712 synonymous_variant Cta/Tta - LOW SNV MT-CO2 protein_coding - - - 3236 m.8222T>C 8222 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8222_T/C homo ENSG00000198712 synonymous_variant Tta/Cta rs1569484195 LOW SNV MT-CO2 protein_coding - - - 3237 m.8226T>C 8226 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8226_T/C heter ENSG00000198712 missense_variant aTt/aCt - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.26) probably_damaging(0.99) - 3238 m.8227T>C 8227 T C 20 0.002752546 0 0.000000000 7266 0.002752546 MT_8227_T/C homo ENSG00000198712 synonymous_variant atT/atC COSV62294349 LOW SNV MT-CO2 protein_coding - - - 3239 m.8233A>G 8233 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8233_A/G homo ENSG00000198712 synonymous_variant ctA/ctG - LOW SNV MT-CO2 protein_coding - - - 3240 m.8234A>G 8234 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8234_A/G homo ENSG00000198712 missense_variant Aaa/Gaa - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.67) probably_damaging(0.95) - 3241 m.8238T>C 8238 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_8238_T/C homo&heter ENSG00000198712 missense_variant aTc/aCc - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.1) benign(0.038) - 3242 m.8239C>T 8239 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8239_C/T homo ENSG00000198712 synonymous_variant atC/atT - LOW SNV MT-CO2 protein_coding - - - 3243 m.8245A>G 8245 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8245_A/G homo ENSG00000198712 synonymous_variant gaA/gaG - LOW SNV MT-CO2 protein_coding - - - 3244 m.8247T>C 8247 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8247_T/C homo ENSG00000198712 missense_variant aTa/aCa - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.87) possibly_damaging(0.882) - 3245 m.8248A>G 8248 A G 121 0.016652904 0 0.000000000 7266 0.016652904 MT_8248_A/G homo ENSG00000198712 synonymous_variant atA/atG rs28754624 LOW SNV MT-CO2 protein_coding - - - 3246 m.8251G>A 8251 G A 113 0.015551885 5 0.000688137 7266 0.016240022 MT_8251_G/A homo&heter ENSG00000198712 synonymous_variant ggG/ggA rs3021089 LOW SNV MT-CO2 protein_coding - - - 3247 m.8256T>C 8256 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8256_T/C heter ENSG00000198712 missense_variant gTa/gCa - MODERATE SNV MT-CO2 protein_coding tolerated_low_confidence(0.49) probably_damaging(0.968) - 3248 m.8257A>G 8257 A G 3 0.000412882 2 0.000275255 7266 0.000688137 MT_8257_A/G homo&heter ENSG00000198712 synonymous_variant gtA/gtG - LOW SNV MT-CO2 protein_coding - - - 3249 m.8259T>C 8259 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8259_T/C heter ENSG00000198712 missense_variant tTt/tCt - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0.01) benign(0.325) - 3250 m.8260T>C 8260 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_8260_T/C homo ENSG00000198712 synonymous_variant ttT/ttC rs1057520115 LOW SNV MT-CO2 protein_coding - - likely_benign 3251 m.8263C>T 8263 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8263_C/T homo ENSG00000198712 synonymous_variant acC/acT - LOW SNV MT-CO2 protein_coding - - - 3252 m.8264C>T 8264 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8264_C/T homo ENSG00000198712 synonymous_variant Cta/Tta - LOW SNV MT-CO2 protein_coding - - - 3253 m.8265T>C 8265 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8265_T/C heter ENSG00000198712 missense_variant cTa/cCa - MODERATE SNV MT-CO2 protein_coding deleterious_low_confidence(0) probably_damaging(0.996) - 3254 m.8266A>G 8266 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8266_A/G homo ENSG00000198712 synonymous_variant ctA/ctG - LOW SNV MT-CO2 protein_coding - - - 3255 m.8267T>C 8267 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8267_T/C heter ENSG00000198712 stop_lost Tag/Cag - HIGH SNV MT-CO2 protein_coding - - - 3256 m.8268AGC>A 8268 AGC A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8269_GC/- homo ENSG00000198712 coding_sequence_variant,3_prime_UTR_variant - - MODIFIER deletion MT-CO2 protein_coding - - - 3257 m.8269G>A 8269 G A 39 0.005367465 1 0.000137627 7266 0.005505092 MT_8269_G/A homo&heter ENSG00000198712 stop_retained_variant taG/taA rs1556423413 LOW SNV MT-CO2 protein_coding - - - 3258 m.8269GCACCCCCTC>G 8269 GCACCCCCTC G 18 0.002477291 0 0.000000000 7266 0.002477291 MT_8270_CACCCCCTC/- homo - intergenic_variant - - MODIFIER deletion - - - - - 3259 m.8270C>CACCCCCTCT 8270 C CACCCCCTCT 4 0.000550509 15 0.002064410 7266 0.002614919 MT_8271_-/ACCCCCTCT homo&heter - intergenic_variant - - MODIFIER insertion - - - - - 3260 m.8270C>CACCCCCTCTACCCCCTCT 8270 C CACCCCCTCTACCCCCTCT 0 0.000000000 2 0.000275255 7266 0.000275255 MT_8271_-/ACCCCCTCTACCCCCTCT heter - intergenic_variant - - MODIFIER insertion - - - - - 3261 m.8270C>CACCCCCTCTACCCCCTCTACCCCCTCT 8270 C CACCCCCTCTACCCCCTCTACCCCCTCT 0 0.000000000 2 0.000275255 7266 0.000275255 MT_8271_-/ACCCCCTCTACCCCCTCTACCCCCTCT heter - intergenic_variant - - MODIFIER insertion - - - - - 3262 m.8270C>CACCCCCTCTACCCCCTCTACCCCCTCTACCCCCTCT 8270 C CACCCCCTCTACCCCCTCTACCCCCTCTACCCCCTCT 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8271_-/ACCCCCTCTACCCCCTCTACCCCCTCTACCCCCTCT heter - intergenic_variant - - MODIFIER insertion - - - - - 3263 m.8270CACCCCCTCT>C 8270 CACCCCCTCT C 950 0.130745940 0 0.000000000 7266 0.130745940 MT_8271_ACCCCCTCT/- homo - intergenic_variant - rs369704279 MODIFIER deletion - - - - - 3264 m.8271A>AC 8271 A AC 5 0.000688137 14 0.001926782 7266 0.002614919 MT_8272_-/C homo&heter - intergenic_variant - - MODIFIER insertion - - - - - 3265 m.8271A>ACC 8271 A ACC 0 0.000000000 18 0.002477291 7266 0.002477291 MT_8272_-/CC heter - intergenic_variant - - MODIFIER insertion - - - - - 3266 m.8271A>ACCC 8271 A ACCC 0 0.000000000 22 0.003027801 7266 0.003027801 MT_8272_-/CCC heter - intergenic_variant - - MODIFIER insertion - - - - - 3267 m.8271A>ACCCC 8271 A ACCCC 0 0.000000000 13 0.001789155 7266 0.001789155 MT_8272_-/CCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 3268 m.8271A>ACCCCC 8271 A ACCCCC 0 0.000000000 9 0.001238646 7266 0.001238646 MT_8272_-/CCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 3269 m.8271A>ACCCCCC 8271 A ACCCCCC 0 0.000000000 2 0.000275255 7266 0.000275255 MT_8272_-/CCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 3270 m.8271A>C 8271 A C 0 0.000000000 4 0.000550509 7266 0.000550509 MT_8271_A/C heter - intergenic_variant - - MODIFIER SNV - - - - - 3271 m.8271A>G 8271 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8271_A/G heter - intergenic_variant - - MODIFIER SNV - - - - - 3272 m.8271A>T 8271 A T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8271_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 3273 m.8271AC>A 8271 AC A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8272_C/- homo - intergenic_variant - - MODIFIER deletion - - - - - 3274 m.8271ACCCCC>A 8271 ACCCCC A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8272_CCCCC/- homo - intergenic_variant - - MODIFIER deletion - - - - - 3275 m.8272C>T 8272 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8272_C/T heter - intergenic_variant - - MODIFIER SNV - - - - - 3276 m.8272CCCCCTCT>C 8272 CCCCCTCT C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_8273_CCCCTCT/- homo&heter - intergenic_variant - - MODIFIER deletion - - - - - 3277 m.8273C>T 8273 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8273_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 3278 m.8273CCCCTCT>C 8273 CCCCTCT C 0 0.000000000 6 0.000825764 7266 0.000825764 MT_8274_CCCTCT/- heter - intergenic_variant - - MODIFIER deletion - - - - - 3279 m.8274C>T 8274 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8274_C/T heter - intergenic_variant - - MODIFIER SNV - - - - - 3280 m.8274CCCTCT>C 8274 CCCTCT C 0 0.000000000 4 0.000550509 7266 0.000550509 MT_8275_CCTCT/- heter - intergenic_variant - - MODIFIER deletion - - - - - 3281 m.8275C>T 8275 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8275_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 3282 m.8275CCTCT>C 8275 CCTCT C 1 0.000137627 2 0.000275255 7266 0.000412882 MT_8276_CTCT/- homo&heter - intergenic_variant - - MODIFIER deletion - - - - - 3283 m.8276C>T 8276 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8276_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 3284 m.8276CT>C 8276 CT C 0 0.000000000 5 0.000688137 7266 0.000688137 MT_8277_T/- heter - intergenic_variant - - MODIFIER deletion - - - - - 3285 m.8276CTCTA>C 8276 CTCTA C 0 0.000000000 4 0.000550509 7266 0.000550509 MT_8277_TCTA/- heter - intergenic_variant - - MODIFIER deletion - - - - - 3286 m.8277T>A 8277 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8277_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 3287 m.8277T>C 8277 T C 36 0.004954583 1 0.000137627 7266 0.005092210 MT_8277_T/C homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 3288 m.8277TCTAC>T 8277 TCTAC T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8278_CTAC/- homo - intergenic_variant - - MODIFIER deletion - - - - - 3289 m.8278CTA>C 8278 CTA C 1 0.000137627 4 0.000550509 7266 0.000688137 MT_8279_TA/- homo&heter - intergenic_variant - rs1556423418 MODIFIER deletion - - - - - 3290 m.8278CTACCCCCT>C 8278 CTACCCCCT C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8279_TACCCCCT/- homo - intergenic_variant - - MODIFIER deletion - - - - - 3291 m.8278CTACCCCCTCTAGAGCCCACTG>C 8278 CTACCCCCTCTAGAGCCCACTG C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8279_TACCCCCTCTAGAGCCCACTG/- heter ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER deletion MT-TK Mt_tRNA - - - 3292 m.8279T>C 8279 T C 26 0.003578310 0 0.000000000 7266 0.003578310 MT_8279_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 3293 m.8280A>AC 8280 A AC 3 0.000412882 4 0.000550509 7266 0.000963391 MT_8281_-/C homo&heter - intergenic_variant - - MODIFIER insertion - - - - - 3294 m.8280A>ACC 8280 A ACC 0 0.000000000 3 0.000412882 7266 0.000412882 MT_8281_-/CC heter - intergenic_variant - - MODIFIER insertion - - - - - 3295 m.8280A>ACCC 8280 A ACCC 0 0.000000000 3 0.000412882 7266 0.000412882 MT_8281_-/CCC heter - intergenic_variant - - MODIFIER insertion - - - - - 3296 m.8280A>ACCCC 8280 A ACCCC 0 0.000000000 4 0.000550509 7266 0.000550509 MT_8281_-/CCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 3297 m.8280A>ACCCCC 8280 A ACCCCC 0 0.000000000 4 0.000550509 7266 0.000550509 MT_8281_-/CCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 3298 m.8280A>ACCCCCC 8280 A ACCCCCC 0 0.000000000 4 0.000550509 7266 0.000550509 MT_8281_-/CCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 3299 m.8280A>ACCCCCCC 8280 A ACCCCCCC 0 0.000000000 2 0.000275255 7266 0.000275255 MT_8281_-/CCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 3300 m.8280A>ACCCCCCCCCCCCCCCC 8280 A ACCCCCCCCCCCCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8281_-/CCCCCCCCCCCCCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 3301 m.8280A>C 8280 A C 3 0.000412882 3 0.000412882 7266 0.000825764 MT_8280_A/C homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 3302 m.8280A>G 8280 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8280_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 3303 m.8280AC>A 8280 AC A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8281_C/- heter - intergenic_variant - - MODIFIER deletion - - - - - 3304 m.8280ACCCCCTCT>A 8280 ACCCCCTCT A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8281_CCCCCTCT/- homo - intergenic_variant - - MODIFIER deletion - - - - - 3305 m.8281C>T 8281 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8281_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 3306 m.8281CCCCCTCT>C 8281 CCCCCTCT C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8282_CCCCTCT/- homo - intergenic_variant - - MODIFIER deletion - - - - - 3307 m.8282C>A 8282 C A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8282_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 3308 m.8282C>T 8282 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8282_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 3309 m.8282CCCCT>C 8282 CCCCT C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8283_CCCT/- heter - intergenic_variant - - MODIFIER deletion - - - - - 3310 m.8283C>T 8283 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8283_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 3311 m.8283CCCT>C 8283 CCCT C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8284_CCT/- heter - intergenic_variant - - MODIFIER deletion - - - - - 3312 m.8284C>T 8284 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8284_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 3313 m.8286T>A 8286 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8286_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 3314 m.8286T>C 8286 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_8286_T/C homo - intergenic_variant - rs1556423419 MODIFIER SNV - - - - - 3315 m.8288T>C 8288 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8288_T/C homo - intergenic_variant - rs1556423420 MODIFIER SNV - - - - - 3316 m.8289AG>A 8289 AG A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8290_G/- homo - intergenic_variant - - MODIFIER deletion - - - - - 3317 m.8290G>A 8290 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8290_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 3318 m.8290G>T 8290 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8290_G/T homo - intergenic_variant - - MODIFIER SNV - - - - - 3319 m.8291A>G 8291 A G 3 0.000412882 2 0.000275255 7266 0.000688137 MT_8291_A/G homo&heter - intergenic_variant - rs386829031 MODIFIER SNV - - - - - 3320 m.8292G>A 8292 G A 11 0.001513900 0 0.000000000 7266 0.001513900 MT_8292_G/A homo - intergenic_variant - rs1556423422 MODIFIER SNV - - - - - 3321 m.8293C>T 8293 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8293_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 3322 m.8296A>G 8296 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8296_A/G homo ENSG00000210156 non_coding_transcript_exon_variant - rs118192102 MODIFIER SNV MT-TK Mt_tRNA - - pathogenic,benign 3323 m.8300T>C 8300 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8300_T/C homo ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3324 m.8301A>G 8301 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8301_A/G homo ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3325 m.8302A>G 8302 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8302_A/G homo ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3326 m.8302A>T 8302 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8302_A/T homo ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3327 m.8308A>G 8308 A G 1 0.000137627 2 0.000275255 7266 0.000412882 MT_8308_A/G homo&heter ENSG00000210156 non_coding_transcript_exon_variant - rs879081228 MODIFIER SNV MT-TK Mt_tRNA - - - 3328 m.8310T>C 8310 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8310_T/C homo ENSG00000210156 non_coding_transcript_exon_variant - rs1556423424 MODIFIER SNV MT-TK Mt_tRNA - - - 3329 m.8311T>C 8311 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8311_T/C homo ENSG00000210156 non_coding_transcript_exon_variant - rs371589230 MODIFIER SNV MT-TK Mt_tRNA - - - 3330 m.8322T>C 8322 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8322_T/C heter ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3331 m.8331A>G 8331 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8331_A/G homo ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3332 m.8334G>A 8334 G A 7 0.000963391 0 0.000000000 7266 0.000963391 MT_8334_G/A homo ENSG00000210156 non_coding_transcript_exon_variant - rs1556423427 MODIFIER SNV MT-TK Mt_tRNA - - - 3333 m.8340G>A 8340 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8340_G/A heter ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3334 m.8343A>G 8343 A G 29 0.003991192 0 0.000000000 7266 0.003991192 MT_8343_A/G homo ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3335 m.8344A>G 8344 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_8344_A/G heter ENSG00000210156 non_coding_transcript_exon_variant - rs118192098 MODIFIER SNV MT-TK Mt_tRNA - - pathogenic 3336 m.8344A>T 8344 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8344_A/T homo ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3337 m.8345C>T 8345 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8345_C/T homo ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3338 m.8346C>A 8346 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8346_C/A homo ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3339 m.8347A>G 8347 A G 21 0.002890173 0 0.000000000 7266 0.002890173 MT_8347_A/G homo ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3340 m.8347A>T 8347 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8347_A/T homo ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3341 m.8348A>G 8348 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8348_A/G homo ENSG00000210156 non_coding_transcript_exon_variant - rs1556423430 MODIFIER SNV MT-TK Mt_tRNA - - - 3342 m.8349C>T 8349 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8349_C/T homo ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3343 m.8350A>G 8350 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8350_A/G homo ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3344 m.8350A>T 8350 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8350_A/T homo ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3345 m.8360A>G 8360 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8360_A/G homo ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3346 m.8362T>C 8362 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_8362_T/C heter ENSG00000210156 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TK Mt_tRNA - - - 3347 m.8371C>T 8371 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8371_C/T homo ENSG00000228253 synonymous_variant ccC/ccT - LOW SNV MT-ATP8 protein_coding - - - 3348 m.8373A>G 8373 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8373_A/G homo ENSG00000228253 missense_variant cAa/cGa - MODERATE SNV MT-ATP8 protein_coding deleterious(0) probably_damaging(0.934) - 3349 m.8376T>C 8376 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8376_T/C heter ENSG00000228253 missense_variant cTa/cCa - MODERATE SNV MT-ATP8 protein_coding deleterious(0) probably_damaging(0.995) - 3350 m.8378A>G 8378 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8378_A/G homo ENSG00000228253 missense_variant Aat/Gat - MODERATE SNV MT-ATP8 protein_coding tolerated(1) probably_damaging(0.974) - 3351 m.8379A>G 8379 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8379_A/G homo ENSG00000228253 missense_variant aAt/aGt - MODERATE SNV MT-ATP8 protein_coding deleterious(0) probably_damaging(0.974) - 3352 m.8380T>C 8380 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_8380_T/C homo&heter ENSG00000228253 synonymous_variant aaT/aaC - LOW SNV MT-ATP8 protein_coding - - - 3353 m.8381A>G 8381 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8381_A/G homo ENSG00000228253 missense_variant Act/Gct - MODERATE SNV MT-ATP8 protein_coding deleterious(0) probably_damaging(0.974) - 3354 m.8381A>T 8381 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8381_A/T homo ENSG00000228253 missense_variant Act/Tct - MODERATE SNV MT-ATP8 protein_coding deleterious(0) probably_damaging(0.974) - 3355 m.8383T>C 8383 T C 14 0.001926782 0 0.000000000 7266 0.001926782 MT_8383_T/C homo ENSG00000228253 synonymous_variant acT/acC - LOW SNV MT-ATP8 protein_coding - - - 3356 m.8384A>G 8384 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8384_A/G homo ENSG00000228253 missense_variant Acc/Gcc - MODERATE SNV MT-ATP8 protein_coding deleterious(0.02) benign(0) - 3357 m.8385C>T 8385 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8385_C/T homo ENSG00000228253 missense_variant aCc/aTc - MODERATE SNV MT-ATP8 protein_coding deleterious(0) benign(0.021) - 3358 m.8386C>T 8386 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8386_C/T homo ENSG00000228253 synonymous_variant acC/acT - LOW SNV MT-ATP8 protein_coding - - - 3359 m.8387G>A 8387 G A 52 0.007156620 0 0.000000000 7266 0.007156620 MT_8387_G/A homo ENSG00000228253 missense_variant Gta/Ata rs1556423439 MODERATE SNV MT-ATP8 protein_coding deleterious(0.01) probably_damaging(0.992) - 3360 m.8388T>C 8388 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_8388_T/C homo ENSG00000228253 missense_variant gTa/gCa rs879199176 MODERATE SNV MT-ATP8 protein_coding deleterious(0.01) probably_damaging(0.961) - 3361 m.8389A>G 8389 A G 21 0.002890173 0 0.000000000 7266 0.002890173 MT_8389_A/G homo ENSG00000228253 synonymous_variant gtA/gtG rs386829032 LOW SNV MT-ATP8 protein_coding - - - 3362 m.8392G>A 8392 G A 57 0.007844756 1 0.000137627 7266 0.007982384 MT_8392_G/A homo&heter ENSG00000228253 synonymous_variant tgG/tgA rs121434446 LOW SNV MT-ATP8 protein_coding - - - 3363 m.8393C>T 8393 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_8393_C/T homo ENSG00000228253 missense_variant Ccc/Tcc rs1556423442 MODERATE SNV MT-ATP8 protein_coding tolerated(0.22) probably_damaging(0.992) benign,risk_factor 3364 m.8394C>T 8394 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_8394_C/T homo&heter ENSG00000228253 missense_variant cCc/cTc - MODERATE SNV MT-ATP8 protein_coding tolerated(0.42) probably_damaging(0.995) - 3365 m.8396A>G 8396 A G 17 0.002339664 0 0.000000000 7266 0.002339664 MT_8396_A/G homo ENSG00000228253 missense_variant Acc/Gcc - MODERATE SNV MT-ATP8 protein_coding deleterious(0.03) probably_damaging(0.974) - 3366 m.8400T>C 8400 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_8400_T/C homo ENSG00000228253 missense_variant aTa/aCa - MODERATE SNV MT-ATP8 protein_coding tolerated(1) benign(0) - 3367 m.8401A>G 8401 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8401_A/G homo ENSG00000228253 synonymous_variant atA/atG - LOW SNV MT-ATP8 protein_coding - - - 3368 m.8403T>C 8403 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8403_T/C homo ENSG00000228253 missense_variant aTt/aCt - MODERATE SNV MT-ATP8 protein_coding deleterious(0.01) probably_damaging(0.956) - 3369 m.8404T>C 8404 T C 14 0.001926782 2 0.000275255 7266 0.002202037 MT_8404_T/C homo&heter ENSG00000228253 synonymous_variant atT/atC rs879123186 LOW SNV MT-ATP8 protein_coding - - - 3370 m.8405A>G 8405 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8405_A/G homo ENSG00000228253 missense_variant Acc/Gcc - MODERATE SNV MT-ATP8 protein_coding deleterious(0.04) benign(0) - 3371 m.8406C>T 8406 C T 3 0.000412882 1 0.000137627 7266 0.000550509 MT_8406_C/T homo&heter ENSG00000228253 missense_variant aCc/aTc rs1556423448 MODERATE SNV MT-ATP8 protein_coding tolerated(0.34) benign(0.065) - 3372 m.8410C>G 8410 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8410_C/G homo ENSG00000228253 synonymous_variant ccC/ccG - LOW SNV MT-ATP8 protein_coding - - - 3373 m.8410C>T 8410 C T 23 0.003165428 0 0.000000000 7266 0.003165428 MT_8410_C/T homo ENSG00000228253 synonymous_variant ccC/ccT rs200715932 LOW SNV MT-ATP8 protein_coding - - likely_benign 3374 m.8412T>C 8412 T C 8 0.001101018 1 0.000137627 7266 0.001238646 MT_8412_T/C homo&heter ENSG00000228253 missense_variant aTa/aCa rs1556423451 MODERATE SNV MT-ATP8 protein_coding tolerated(0.13) possibly_damaging(0.861) - 3375 m.8413A>G 8413 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_8413_A/G homo ENSG00000228253 synonymous_variant atA/atG rs1556423455 LOW SNV MT-ATP8 protein_coding - - - 3376 m.8414C>T 8414 C T 842 0.115882191 0 0.000000000 7266 0.115882191 MT_8414_C/T homo ENSG00000228253 missense_variant Ctc/Ttc rs28358884 MODERATE SNV MT-ATP8 protein_coding tolerated(0.23) probably_damaging(0.992) - 3377 m.8417C>T 8417 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_8417_C/T homo ENSG00000228253 missense_variant Ctt/Ttt rs199616772 MODERATE SNV MT-ATP8 protein_coding tolerated(0.07) probably_damaging(0.992) - 3378 m.8419T>C 8419 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_8419_T/C homo&heter ENSG00000228253 synonymous_variant ctT/ctC - LOW SNV MT-ATP8 protein_coding - - - 3379 m.8425A>G 8425 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8425_A/G homo ENSG00000228253 synonymous_variant ctA/ctG - LOW SNV MT-ATP8 protein_coding - - - 3380 m.8426T>C 8426 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8426_T/C homo ENSG00000228253 missense_variant Ttc/Ctc rs1556423461 MODERATE SNV MT-ATP8 protein_coding deleterious(0.03) probably_damaging(0.952) - 3381 m.8428C>A 8428 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8428_C/A homo ENSG00000228253 missense_variant ttC/ttA - MODERATE SNV MT-ATP8 protein_coding deleterious(0.03) probably_damaging(0.952) - 3382 m.8428C>T 8428 C T 51 0.007018993 0 0.000000000 7266 0.007018993 MT_8428_C/T homo ENSG00000228253 synonymous_variant ttC/ttT rs1116905 LOW SNV MT-ATP8 protein_coding - - - 3383 m.8432A>G 8432 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8432_A/G homo ENSG00000228253 missense_variant Atc/Gtc - MODERATE SNV MT-ATP8 protein_coding tolerated(0.33) benign(0) - 3384 m.8433T>C 8433 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_8433_T/C homo&heter ENSG00000228253 missense_variant aTc/aCc - MODERATE SNV MT-ATP8 protein_coding tolerated(0.09) benign(0.014) - 3385 m.8435A>G 8435 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8435_A/G homo ENSG00000228253 missense_variant Acc/Gcc - MODERATE SNV MT-ATP8 protein_coding deleterious(0) benign(0.088) - 3386 m.8437C>T 8437 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8437_C/T homo ENSG00000228253 synonymous_variant acC/acT - LOW SNV MT-ATP8 protein_coding - - - 3387 m.8440A>G 8440 A G 32 0.004404074 0 0.000000000 7266 0.004404074 MT_8440_A/G homo ENSG00000228253 synonymous_variant caA/caG rs386829036 LOW SNV MT-ATP8 protein_coding - - - 3388 m.8447A>G 8447 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8447_A/G homo ENSG00000228253 missense_variant Ata/Gta - MODERATE SNV MT-ATP8 protein_coding tolerated(0.33) benign(0) - 3389 m.8448T>C 8448 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_8448_T/C homo ENSG00000228253 missense_variant aTa/aCa rs879056797 MODERATE SNV MT-ATP8 protein_coding tolerated(0.05) benign(0.001) - 3390 m.8449A>G 8449 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8449_A/G homo ENSG00000228253 synonymous_variant atA/atG - LOW SNV MT-ATP8 protein_coding - - - 3391 m.8450T>C 8450 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8450_T/C homo ENSG00000228253 synonymous_variant Tta/Cta - LOW SNV MT-ATP8 protein_coding - - - 3392 m.8451T>C 8451 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8451_T/C homo ENSG00000228253 missense_variant tTa/tCa - MODERATE SNV MT-ATP8 protein_coding tolerated(0.62) probably_damaging(0.962) - 3393 m.8453A>G 8453 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8453_A/G homo ENSG00000228253 missense_variant Aac/Gac - MODERATE SNV MT-ATP8 protein_coding tolerated(0.06) possibly_damaging(0.879) - 3394 m.8455C>T 8455 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8455_C/T homo ENSG00000228253 synonymous_variant aaC/aaT - LOW SNV MT-ATP8 protein_coding - - - 3395 m.8459A>G 8459 A G 56 0.007707129 0 0.000000000 7266 0.007707129 MT_8459_A/G homo ENSG00000228253 missense_variant Aac/Gac - MODERATE SNV MT-ATP8 protein_coding tolerated(0.19) probably_damaging(0.974) - 3396 m.8460A>G 8460 A G 21 0.002890173 0 0.000000000 7266 0.002890173 MT_8460_A/G homo ENSG00000228253 missense_variant aAc/aGc rs1116906 MODERATE SNV MT-ATP8 protein_coding tolerated(0.6) probably_damaging(0.974) - 3397 m.8461C>T 8461 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_8461_C/T homo ENSG00000228253 synonymous_variant aaC/aaT - LOW SNV MT-ATP8 protein_coding - - - 3398 m.8464C>T 8464 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_8464_C/T homo ENSG00000228253 synonymous_variant taC/taT - LOW SNV MT-ATP8 protein_coding - - - 3399 m.8467C>T 8467 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8467_C/T homo ENSG00000228253 synonymous_variant caC/caT rs1556423465 LOW SNV MT-ATP8 protein_coding - - - 3400 m.8468C>T 8468 C T 222 0.030553262 1 0.000137627 7266 0.030690889 MT_8468_C/T homo&heter ENSG00000228253 synonymous_variant Cta/Tta rs1116907 LOW SNV MT-ATP8 protein_coding - - - 3401 m.8469T>C 8469 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8469_T/C heter ENSG00000228253 missense_variant cTa/cCa - MODERATE SNV MT-ATP8 protein_coding tolerated(0.24) probably_damaging(0.995) - 3402 m.8470A>G 8470 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8470_A/G homo ENSG00000228253 synonymous_variant ctA/ctG rs1556423467 LOW SNV MT-ATP8 protein_coding - - - 3403 m.8472C>A 8472 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8472_C/A homo ENSG00000228253 missense_variant cCt/cAt - MODERATE SNV MT-ATP8 protein_coding tolerated(0.21) benign(0) - 3404 m.8472C>T 8472 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8472_C/T homo ENSG00000228253 missense_variant cCt/cTt rs879209186 MODERATE SNV MT-ATP8 protein_coding tolerated(0.27) benign(0.018) - 3405 m.8473T>C 8473 T C 172 0.023671897 1 0.000137627 7266 0.023809524 MT_8473_T/C homo&heter ENSG00000228253 synonymous_variant ccT/ccC rs386829037 LOW SNV MT-ATP8 protein_coding - - - 3406 m.8474C>T 8474 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8474_C/T homo ENSG00000228253 missense_variant Ccc/Tcc - MODERATE SNV MT-ATP8 protein_coding deleterious(0.02) probably_damaging(0.992) - 3407 m.8477T>C 8477 T C 8 0.001101018 2 0.000275255 7266 0.001376273 MT_8477_T/C homo&heter ENSG00000228253 missense_variant Tca/Cca - MODERATE SNV MT-ATP8 protein_coding tolerated(0.19) benign(0.051) - 3408 m.8478C>T 8478 C T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_8478_C/T homo ENSG00000228253 missense_variant tCa/tTa rs201902227 MODERATE SNV MT-ATP8 protein_coding tolerated(0.35) benign(0) - 3409 m.8479A>G 8479 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_8479_A/G homo ENSG00000228253 synonymous_variant tcA/tcG - LOW SNV MT-ATP8 protein_coding - - - 3410 m.8480C>T 8480 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8480_C/T homo ENSG00000228253 missense_variant Cca/Tca - MODERATE SNV MT-ATP8 protein_coding tolerated(0.43) probably_damaging(0.992) - 3411 m.8481C>T 8481 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8481_C/T homo ENSG00000228253 missense_variant cCa/cTa - MODERATE SNV MT-ATP8 protein_coding tolerated(0.36) probably_damaging(0.995) - 3412 m.8483A>G 8483 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8483_A/G homo ENSG00000228253 missense_variant Aag/Gag rs377093295 MODERATE SNV MT-ATP8 protein_coding tolerated(0.12) benign(0.158) - 3413 m.8485G>A 8485 G A 19 0.002614919 0 0.000000000 7266 0.002614919 MT_8485_G/A homo ENSG00000228253 synonymous_variant aaG/aaA rs369661971 LOW SNV MT-ATP8 protein_coding - - - 3414 m.8490T>C 8490 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8490_T/C homo ENSG00000228253 missense_variant aTa/aCa - MODERATE SNV MT-ATP8 protein_coding tolerated(0.82) possibly_damaging(0.861) - 3415 m.8491A>G 8491 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8491_A/G homo ENSG00000228253 synonymous_variant atA/atG - LOW SNV MT-ATP8 protein_coding - - - 3416 m.8493A>T 8493 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8493_A/T homo ENSG00000228253 missense_variant aAa/aTa - MODERATE SNV MT-ATP8 protein_coding tolerated(0.07) probably_damaging(0.996) - 3417 m.8494A>G 8494 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8494_A/G homo ENSG00000228253 synonymous_variant aaA/aaG - LOW SNV MT-ATP8 protein_coding - - - 3418 m.8495A>G 8495 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8495_A/G homo ENSG00000228253 missense_variant Ata/Gta - MODERATE SNV MT-ATP8 protein_coding tolerated(0.41) possibly_damaging(0.601) - 3419 m.8496T>C 8496 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8496_T/C homo ENSG00000228253 missense_variant aTa/aCa - MODERATE SNV MT-ATP8 protein_coding tolerated(1) possibly_damaging(0.861) - 3420 m.8496TA>T 8496 TA T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8497_A/- heter ENSG00000228253 frameshift_variant atA/at - HIGH deletion MT-ATP8 protein_coding - - - 3421 m.8497A>G 8497 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8497_A/G homo ENSG00000228253 synonymous_variant atA/atG rs1556423474 LOW SNV MT-ATP8 protein_coding - - - 3422 m.8498A>G 8498 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8498_A/G homo ENSG00000228253 missense_variant Aaa/Gaa - MODERATE SNV MT-ATP8 protein_coding tolerated(0.89) possibly_damaging(0.879) - 3423 m.8502A>G 8502 A G 24 0.003303055 0 0.000000000 7266 0.003303055 MT_8502_A/G homo ENSG00000228253 missense_variant aAt/aGt rs879247004 MODERATE SNV MT-ATP8 protein_coding tolerated(0.13) possibly_damaging(0.879) - 3424 m.8503T>C 8503 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_8503_T/C homo ENSG00000228253 synonymous_variant aaT/aaC rs1556423476 LOW SNV MT-ATP8 protein_coding - - - 3425 m.8504T>C 8504 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8504_T/C homo ENSG00000228253 missense_variant Tat/Cat - MODERATE SNV MT-ATP8 protein_coding tolerated(1) benign(0.389) - 3426 m.8506T>C 8506 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_8506_T/C homo&heter ENSG00000228253 synonymous_variant taT/taC - LOW SNV MT-ATP8 protein_coding - - - 3427 m.8507A>G 8507 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8507_A/G homo ENSG00000228253 missense_variant Aac/Gac - MODERATE SNV MT-ATP8 protein_coding tolerated(0.29) benign(0.153) - 3428 m.8508A>G 8508 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8508_A/G homo ENSG00000228253 missense_variant aAc/aGc - MODERATE SNV MT-ATP8 protein_coding tolerated(0.48) benign(0.038) - 3429 m.8512A>G 8512 A G 14 0.001926782 0 0.000000000 7266 0.001926782 MT_8512_A/G homo ENSG00000228253 synonymous_variant aaA/aaG rs1556423477 LOW SNV MT-ATP8 protein_coding - - - 3430 m.8513C>T 8513 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8513_C/T homo ENSG00000228253 missense_variant Ccc/Tcc - MODERATE SNV MT-ATP8 protein_coding deleterious(0.02) probably_damaging(0.992) - 3431 m.8514C>T 8514 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8514_C/T homo ENSG00000228253 missense_variant cCc/cTc - MODERATE SNV MT-ATP8 protein_coding deleterious(0) probably_damaging(0.995) - 3432 m.8515C>T 8515 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8515_C/T homo ENSG00000228253 synonymous_variant ccC/ccT - LOW SNV MT-ATP8 protein_coding - - - 3433 m.8516T>C 8516 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8516_T/C homo ENSG00000228253 missense_variant Tga/Cga rs878928585 MODERATE SNV MT-ATP8 protein_coding deleterious(0) probably_damaging(0.992) - 3434 m.8517G>A 8517 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8517_G/A homo ENSG00000228253 stop_gained tGa/tAa - HIGH SNV MT-ATP8 protein_coding - - - 3435 m.8519G>A 8519 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8519_G/A homo ENSG00000228253 missense_variant Gaa/Aaa rs878853091 MODERATE SNV MT-ATP8 protein_coding tolerated(0.06) probably_damaging(0.974) benign,likely_benign 3436 m.8520A>G 8520 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8520_A/G homo ENSG00000228253 missense_variant gAa/gGa - MODERATE SNV MT-ATP8 protein_coding deleterious(0) probably_damaging(0.983) - 3437 m.8521A>G 8521 A G 15 0.002064410 0 0.000000000 7266 0.002064410 MT_8521_A/G homo ENSG00000228253 synonymous_variant gaA/gaG rs386829038 LOW SNV MT-ATP8 protein_coding - - - 3438 m.8522C>T 8522 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8522_C/T homo ENSG00000228253 missense_variant Cca/Tca - MODERATE SNV MT-ATP8 protein_coding tolerated(0.68) benign(0.005) - 3439 m.8525A>G 8525 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8525_A/G homo ENSG00000228253 missense_variant Aaa/Gaa - MODERATE SNV MT-ATP8 protein_coding deleterious(0.01) probably_damaging(0.974) - 3440 m.8527A>G 8527 A G 27 0.003715937 0 0.000000000 7266 0.003715937 MT_8527_A/G homo ENSG00000228253 synonymous_variant aaA/aaG rs878853003 LOW SNV MT-ATP8 protein_coding - - likely_benign,benign 3441 m.8530A>G 8530 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_8530_A/G homo ENSG00000228253 synonymous_variant tgA/tgG rs1556423480 LOW SNV MT-ATP8 protein_coding - - - 3442 m.8531A>G 8531 A G 13 0.001789155 0 0.000000000 7266 0.001789155 MT_8531_A/G homo ENSG00000228253 missense_variant Acg/Gcg rs1556423481 MODERATE SNV MT-ATP8 protein_coding deleterious(0) possibly_damaging(0.903) - 3443 m.8533G>A 8533 G A 2 0.000275255 1 0.000137627 7266 0.000412882 MT_8533_G/A homo&heter ENSG00000228253 synonymous_variant acG/acA rs386829039 LOW SNV MT-ATP8 protein_coding - - - 3444 m.8537A>G 8537 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_8537_A/G homo&heter ENSG00000228253 missense_variant Atc/Gtc - MODERATE SNV MT-ATP8 protein_coding deleterious(0.01) possibly_damaging(0.467) - 3445 m.8538T>C 8538 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_8538_T/C homo&heter ENSG00000228253 missense_variant aTc/aCc rs878853010 MODERATE SNV MT-ATP8 protein_coding tolerated(0.11) possibly_damaging(0.846) uncertain_significance 3446 m.8541G>A 8541 G A 13 0.001789155 0 0.000000000 7266 0.001789155 MT_8541_G/A homo ENSG00000228253 missense_variant tGt/tAt rs1569484218 MODERATE SNV MT-ATP8 protein_coding tolerated(1) benign(0) - 3447 m.8542T>C 8542 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8542_T/C homo ENSG00000228253 synonymous_variant tgT/tgC - LOW SNV MT-ATP8 protein_coding - - - 3448 m.8543T>C 8543 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8543_T/C heter ENSG00000228253 missense_variant Tcg/Ccg - MODERATE SNV MT-ATP8 protein_coding deleterious(0.02) probably_damaging(0.914) - 3449 m.8544C>T 8544 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8544_C/T homo ENSG00000228253 missense_variant tCg/tTg - MODERATE SNV MT-ATP8 protein_coding tolerated(1) possibly_damaging(0.883) - 3450 m.8545G>A 8545 G A 8 0.001101018 1 0.000137627 7266 0.001238646 MT_8545_G/A homo&heter ENSG00000228253 synonymous_variant tcG/tcA - LOW SNV MT-ATP8 protein_coding - - - 3451 m.8547T>C 8547 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8547_T/C homo ENSG00000228253 missense_variant cTt/cCt - MODERATE SNV MT-ATP8 protein_coding tolerated(1) probably_damaging(0.98) - 3452 m.8548T>C 8548 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8548_T/C homo ENSG00000228253 synonymous_variant ctT/ctC - LOW SNV MT-ATP8 protein_coding - - - 3453 m.8551T>C 8551 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_8551_T/C homo&heter ENSG00000228253 synonymous_variant caT/caC rs1556423486 LOW SNV MT-ATP8 protein_coding - - - 3454 m.8553C>T 8553 C T 6 0.000825764 1 0.000137627 7266 0.000963391 MT_8553_C/T homo&heter ENSG00000228253 missense_variant tCa/tTa rs1569484219 MODERATE SNV MT-ATP8 protein_coding tolerated(0.11) possibly_damaging(0.883) uncertain_significance,likely_benign 3455 m.8554A>G 8554 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8554_A/G homo ENSG00000228253 synonymous_variant tcA/tcG - LOW SNV MT-ATP8 protein_coding - - - 3456 m.8555T>C 8555 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8555_T/C heter ENSG00000228253 synonymous_variant Ttg/Ctg - LOW SNV MT-ATP8 protein_coding - - - 3457 m.8556T>C 8556 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8556_T/C homo ENSG00000228253 missense_variant tTg/tCg - MODERATE SNV MT-ATP8 protein_coding tolerated(0.28) probably_damaging(0.97) - 3458 m.8557G>A 8557 G A 28 0.003853565 1 0.000137627 7266 0.003991192 MT_8557_G/A homo&heter ENSG00000228253 synonymous_variant ttG/ttA rs386829040 LOW SNV MT-ATP8 protein_coding - - - 3459 m.8558C>T 8558 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8558_C/T homo ENSG00000228253 missense_variant Ccc/Tcc rs1556423488 MODERATE SNV MT-ATP8 protein_coding deleterious(0.04) probably_damaging(0.97) - 3460 m.8562C>T 8562 C T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_8562_C/T homo ENSG00000228253 missense_variant cCa/cTa - MODERATE SNV MT-ATP8 protein_coding tolerated(0.91) benign(0) - 3461 m.8563A>G 8563 A G 78 0.010734930 1 0.000137627 7266 0.010872557 MT_8563_A/G homo&heter ENSG00000228253 synonymous_variant ccA/ccG rs386829041 LOW SNV MT-ATP8 protein_coding - - - 3462 m.8565A>G 8565 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8565_A/G homo ENSG00000228253 missense_variant cAa/cGa rs878853052 MODERATE SNV MT-ATP8 protein_coding deleterious(0.04) benign(0) uncertain_significance 3463 m.8566A>G 8566 A G 52 0.007156620 0 0.000000000 7266 0.007156620 MT_8566_A/G homo ENSG00000228253 synonymous_variant caA/caG rs3020563 LOW SNV MT-ATP8 protein_coding - - - 3464 m.8567T>C 8567 T C 18 0.002477291 0 0.000000000 7266 0.002477291 MT_8567_T/C homo ENSG00000228253 missense_variant Tcc/Ccc - MODERATE SNV MT-ATP8 protein_coding deleterious(0) probably_damaging(0.914) - 3465 m.8568C>T 8568 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8568_C/T heter ENSG00000228253 missense_variant tCc/tTc - MODERATE SNV MT-ATP8 protein_coding deleterious(0) probably_damaging(0.963) - 3466 m.8572G>A 8572 G A 20 0.002752546 2 0.000275255 7266 0.003027801 MT_8572_G/A homo&heter ENSG00000228253 stop_retained_variant taG/taA rs28502681 LOW SNV MT-ATP8 protein_coding - - - 3467 m.8573G>A 8573 G A 15 0.002064410 0 0.000000000 7266 0.002064410 MT_8573_G/A homo ENSG00000198899 missense_variant gGc/gAc - MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) benign(0.028) - 3468 m.8574C>G 8574 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8574_C/G homo ENSG00000198899 synonymous_variant ggC/ggG - LOW SNV MT-ATP6 protein_coding - - - 3469 m.8575C>T 8575 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_8575_C/T homo ENSG00000198899 synonymous_variant Cta/Tta - LOW SNV MT-ATP6 protein_coding - - - 3470 m.8576T>G 8576 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8576_T/G homo ENSG00000198899 missense_variant cTa/cGa - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.998) - 3471 m.8577A>G 8577 A G 10 0.001376273 2 0.000275255 7266 0.001651528 MT_8577_A/G homo&heter ENSG00000198899 synonymous_variant ctA/ctG - LOW SNV MT-ATP6 protein_coding - - - 3472 m.8579C>T 8579 C T 0 0.000000000 2 0.000275255 7266 0.000275255 MT_8579_C/T heter ENSG00000198899 missense_variant cCc/cTc - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.998) - 3473 m.8580C>T 8580 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_8580_C/T homo ENSG00000198899 synonymous_variant ccC/ccT - LOW SNV MT-ATP6 protein_coding - - - 3474 m.8582C>T 8582 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8582_C/T homo ENSG00000198899 missense_variant gCc/gTc rs1556423493 MODERATE SNV MT-ATP6 protein_coding tolerated(0.14) probably_damaging(0.993) - 3475 m.8583C>T 8583 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8583_C/T homo ENSG00000198899 synonymous_variant gcC/gcT - LOW SNV MT-ATP6 protein_coding - - - 3476 m.8584G>A 8584 G A 778 0.107074043 0 0.000000000 7266 0.107074043 MT_8584_G/A homo ENSG00000198899 missense_variant Gca/Aca rs3135028 MODERATE SNV MT-ATP6 protein_coding tolerated(0.24) benign(0.012) - 3477 m.8585C>T 8585 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8585_C/T homo ENSG00000198899 missense_variant gCa/gTa - MODERATE SNV MT-ATP6 protein_coding tolerated(0.59) benign(0.212) - 3478 m.8586A>G 8586 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8586_A/G homo ENSG00000198899 synonymous_variant gcA/gcG - LOW SNV MT-ATP6 protein_coding - - - 3479 m.8587G>A 8587 G A 3 0.000412882 1 0.000137627 7266 0.000550509 MT_8587_G/A homo&heter ENSG00000198899 missense_variant Gta/Ata - MODERATE SNV MT-ATP6 protein_coding tolerated(0.19) possibly_damaging(0.819) - 3480 m.8588T>C 8588 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8588_T/C homo ENSG00000198899 missense_variant gTa/gCa - MODERATE SNV MT-ATP6 protein_coding tolerated(0.68) benign(0.307) - 3481 m.8589A>G 8589 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8589_A/G homo ENSG00000198899 synonymous_variant gtA/gtG rs1556423497 LOW SNV MT-ATP6 protein_coding - - - 3482 m.8592G>A 8592 G A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8592_G/A homo ENSG00000198899 synonymous_variant ctG/ctA - LOW SNV MT-ATP6 protein_coding - - - 3483 m.8593A>G 8593 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8593_A/G homo ENSG00000198899 missense_variant Atc/Gtc - MODERATE SNV MT-ATP6 protein_coding tolerated(0.5) benign(0.005) - 3484 m.8594T>C 8594 T C 17 0.002339664 0 0.000000000 7266 0.002339664 MT_8594_T/C homo ENSG00000198899 missense_variant aTc/aCc rs1556423500 MODERATE SNV MT-ATP6 protein_coding tolerated(0.19) benign(0.28) - 3485 m.8595C>T 8595 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8595_C/T homo ENSG00000198899 synonymous_variant atC/atT - LOW SNV MT-ATP6 protein_coding - - - 3486 m.8596A>G 8596 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8596_A/G homo ENSG00000198899 missense_variant Att/Gtt - MODERATE SNV MT-ATP6 protein_coding tolerated(0.14) possibly_damaging(0.885) - 3487 m.8597T>C 8597 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8597_T/C homo ENSG00000198899 missense_variant aTt/aCt - MODERATE SNV MT-ATP6 protein_coding tolerated(0.06) probably_damaging(0.98) - 3488 m.8598T>C 8598 T C 8 0.001101018 1 0.000137627 7266 0.001238646 MT_8598_T/C homo&heter ENSG00000198899 synonymous_variant atT/atC rs386829043 LOW SNV MT-ATP6 protein_coding - - - 3489 m.8599C>T 8599 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8599_C/T homo ENSG00000198899 synonymous_variant Cta/Tta - LOW SNV MT-ATP6 protein_coding - - - 3490 m.8601A>G 8601 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8601_A/G homo ENSG00000198899 synonymous_variant ctA/ctG - LOW SNV MT-ATP6 protein_coding - - - 3491 m.8602T>C 8602 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8602_T/C homo ENSG00000198899 missense_variant Ttt/Ctt rs1556423501 MODERATE SNV MT-ATP6 protein_coding tolerated(0.7) benign(0.001) - 3492 m.8603T>C 8603 T C 11 0.001513900 0 0.000000000 7266 0.001513900 MT_8603_T/C homo ENSG00000198899 missense_variant tTt/tCt - MODERATE SNV MT-ATP6 protein_coding deleterious(0.04) benign(0.346) - 3493 m.8604T>C 8604 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_8604_T/C homo ENSG00000198899 synonymous_variant ttT/ttC rs1556423503 LOW SNV MT-ATP6 protein_coding - - - 3494 m.8605C>T 8605 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8605_C/T homo ENSG00000198899 missense_variant Ccc/Tcc - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.996) - 3495 m.8607C>T 8607 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8607_C/T homo ENSG00000198899 synonymous_variant ccC/ccT - LOW SNV MT-ATP6 protein_coding - - - 3496 m.8609C>T 8609 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8609_C/T homo ENSG00000198899 missense_variant cCt/cTt - MODERATE SNV MT-ATP6 protein_coding tolerated(0.71) benign(0.364) - 3497 m.8610T>C 8610 T C 7 0.000963391 1 0.000137627 7266 0.001101018 MT_8610_T/C homo&heter ENSG00000198899 synonymous_variant ccT/ccC rs1556423504 LOW SNV MT-ATP6 protein_coding - - - 3498 m.8612T>C 8612 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8612_T/C heter ENSG00000198899 missense_variant cTa/cCa - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.998) - 3499 m.8613A>G 8613 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8613_A/G homo ENSG00000198899 synonymous_variant ctA/ctG - LOW SNV MT-ATP6 protein_coding - - - 3500 m.8614T>C 8614 T C 21 0.002890173 0 0.000000000 7266 0.002890173 MT_8614_T/C homo ENSG00000198899 synonymous_variant Ttg/Ctg rs878960523 LOW SNV MT-ATP6 protein_coding - - - 3501 m.8616G>A 8616 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_8616_G/A homo&heter ENSG00000198899 synonymous_variant ttG/ttA rs41427749 LOW SNV MT-ATP6 protein_coding - - - 3502 m.8616G>T 8616 G T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8616_G/T homo ENSG00000198899 missense_variant ttG/ttT rs41427749 MODERATE SNV MT-ATP6 protein_coding tolerated(0.08) probably_damaging(0.997) benign,likely_benign 3503 m.8617A>AC 8617 A AC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8618_-/C heter ENSG00000198899 frameshift_variant atc/aCtc - HIGH insertion MT-ATP6 protein_coding - - - 3504 m.8617A>AT 8617 A AT 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8618_-/T heter ENSG00000198899 frameshift_variant atc/aTtc - HIGH insertion MT-ATP6 protein_coding - - - 3505 m.8618T>C 8618 T C 65 0.008945775 1 0.000137627 7266 0.009083402 MT_8618_T/C homo&heter ENSG00000198899 missense_variant aTc/aCc rs28358885 MODERATE SNV MT-ATP6 protein_coding tolerated(0.06) benign(0.046) - 3506 m.8619C>T 8619 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8619_C/T homo ENSG00000198899 synonymous_variant atC/atT rs878853038 LOW SNV MT-ATP6 protein_coding - - likely_benign 3507 m.8623A>G 8623 A G 11 0.001513900 2 0.000275255 7266 0.001789155 MT_8623_A/G homo&heter ENSG00000198899 missense_variant Acc/Gcc - MODERATE SNV MT-ATP6 protein_coding tolerated(0.15) benign(0.003) - 3508 m.8625C>A 8625 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8625_C/A homo ENSG00000198899 synonymous_variant acC/acA - LOW SNV MT-ATP6 protein_coding - - - 3509 m.8625C>T 8625 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8625_C/T homo ENSG00000198899 synonymous_variant acC/acT - LOW SNV MT-ATP6 protein_coding - - - 3510 m.8626T>C 8626 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8626_T/C homo ENSG00000198899 missense_variant Tcc/Ccc - MODERATE SNV MT-ATP6 protein_coding tolerated(0.56) probably_damaging(0.989) - 3511 m.8631A>G 8631 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8631_A/G homo ENSG00000198899 synonymous_variant aaA/aaG - LOW SNV MT-ATP6 protein_coding - - - 3512 m.8632T>C 8632 T C 4 0.000550509 2 0.000275255 7266 0.000825764 MT_8632_T/C homo&heter ENSG00000198899 missense_variant Tat/Cat - MODERATE SNV MT-ATP6 protein_coding tolerated(0.15) benign(0.001) - 3513 m.8634T>C 8634 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8634_T/C homo ENSG00000198899 synonymous_variant taT/taC - LOW SNV MT-ATP6 protein_coding - - - 3514 m.8637C>T 8637 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_8637_C/T homo&heter ENSG00000198899 synonymous_variant ctC/ctT - LOW SNV MT-ATP6 protein_coding - - - 3515 m.8639T>C 8639 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_8639_T/C homo ENSG00000198899 missense_variant aTc/aCc rs200047468 MODERATE SNV MT-ATP6 protein_coding tolerated(0.06) probably_damaging(0.98) - 3516 m.8642A>G 8642 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8642_A/G homo ENSG00000198899 missense_variant aAc/aGc - MODERATE SNV MT-ATP6 protein_coding tolerated(0.2) probably_damaging(0.988) - 3517 m.8648G>A 8648 G A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8648_G/A homo ENSG00000198899 missense_variant cGa/cAa rs28479867 MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) probably_damaging(0.985) - 3518 m.8649A>G 8649 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8649_A/G homo ENSG00000198899 synonymous_variant cgA/cgG - LOW SNV MT-ATP6 protein_coding - - - 3519 m.8650C>G 8650 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8650_C/G homo ENSG00000198899 missense_variant Cta/Gta - MODERATE SNV MT-ATP6 protein_coding tolerated(0.09) probably_damaging(0.988) - 3520 m.8650C>T 8650 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8650_C/T homo ENSG00000198899 synonymous_variant Cta/Tta rs1569484227 LOW SNV MT-ATP6 protein_coding - - - 3521 m.8653A>G 8653 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8653_A/G homo ENSG00000198899 missense_variant Atc/Gtc - MODERATE SNV MT-ATP6 protein_coding tolerated(0.48) benign(0.003) - 3522 m.8654T>C 8654 T C 14 0.001926782 0 0.000000000 7266 0.001926782 MT_8654_T/C homo ENSG00000198899 missense_variant aTc/aCc rs200811540 MODERATE SNV MT-ATP6 protein_coding tolerated(0.52) benign(0.191) - 3523 m.8655C>T 8655 C T 231 0.031791908 1 0.000137627 7266 0.031929535 MT_8655_C/T homo&heter ENSG00000198899 synonymous_variant atC/atT rs2853822 LOW SNV MT-ATP6 protein_coding - - - 3524 m.8657C>T 8657 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8657_C/T homo ENSG00000198899 missense_variant aCc/aTc - MODERATE SNV MT-ATP6 protein_coding deleterious(0.04) benign(0.003) - 3525 m.8658C>T 8658 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8658_C/T homo ENSG00000198899 synonymous_variant acC/acT - LOW SNV MT-ATP6 protein_coding - - - 3526 m.8659A>G 8659 A G 12 0.001651528 0 0.000000000 7266 0.001651528 MT_8659_A/G homo ENSG00000198899 missense_variant Acc/Gcc rs879150284 MODERATE SNV MT-ATP6 protein_coding tolerated(0.07) benign(0.005) - 3527 m.8660C>G 8660 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8660_C/G homo ENSG00000198899 missense_variant aCc/aGc - MODERATE SNV MT-ATP6 protein_coding deleterious(0.04) benign(0.092) - 3528 m.8668T>C 8668 T C 8 0.001101018 1 0.000137627 7266 0.001238646 MT_8668_T/C homo&heter ENSG00000198899 missense_variant Tga/Cga COSV62293167 MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.997) - 3529 m.8669G>A 8669 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8669_G/A heter ENSG00000198899 stop_gained tGa/tAa - HIGH SNV MT-ATP6 protein_coding - - - 3530 m.8670A>C 8670 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8670_A/C homo ENSG00000198899 missense_variant tgA/tgC COSV62294351 MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) probably_damaging(0.997) - 3531 m.8670A>G 8670 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8670_A/G homo ENSG00000198899 synonymous_variant tgA/tgG COSV62294351 LOW SNV MT-ATP6 protein_coding - - - 3532 m.8671C>T 8671 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8671_C/T homo ENSG00000198899 synonymous_variant Cta/Tta - LOW SNV MT-ATP6 protein_coding - - - 3533 m.8673A>G 8673 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8673_A/G homo ENSG00000198899 synonymous_variant ctA/ctG - LOW SNV MT-ATP6 protein_coding - - - 3534 m.8674A>G 8674 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8674_A/G homo ENSG00000198899 missense_variant Atc/Gtc - MODERATE SNV MT-ATP6 protein_coding tolerated(0.18) benign(0.04) - 3535 m.8675T>C 8675 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_8675_T/C heter ENSG00000198899 missense_variant aTc/aCc COSV62293891 MODERATE SNV MT-ATP6 protein_coding tolerated(0.19) benign(0.005) - 3536 m.8676C>T 8676 C T 12 0.001651528 0 0.000000000 7266 0.001651528 MT_8676_C/T homo ENSG00000198899 synonymous_variant atC/atT rs1556423515 LOW SNV MT-ATP6 protein_coding - - - 3537 m.8679A>G 8679 A G 14 0.001926782 0 0.000000000 7266 0.001926782 MT_8679_A/G homo ENSG00000198899 synonymous_variant aaA/aaG rs386829045 LOW SNV MT-ATP6 protein_coding - - - 3538 m.8681T>C 8681 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8681_T/C homo ENSG00000198899 missense_variant cTa/cCa - MODERATE SNV MT-ATP6 protein_coding tolerated(0.13) possibly_damaging(0.753) - 3539 m.8681T>G 8681 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8681_T/G homo ENSG00000198899 missense_variant cTa/cGa - MODERATE SNV MT-ATP6 protein_coding tolerated(0.66) benign(0.01) - 3540 m.8682A>G 8682 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8682_A/G homo ENSG00000198899 synonymous_variant ctA/ctG - LOW SNV MT-ATP6 protein_coding - - - 3541 m.8683A>G 8683 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8683_A/G homo ENSG00000198899 missense_variant Acc/Gcc - MODERATE SNV MT-ATP6 protein_coding tolerated(0.07) benign(0.005) - 3542 m.8684C>T 8684 C T 157 0.021607487 0 0.000000000 7266 0.021607487 MT_8684_C/T homo ENSG00000198899 missense_variant aCc/aTc rs201336180 MODERATE SNV MT-ATP6 protein_coding tolerated(0.67) benign(0.005) - 3543 m.8685C>A 8685 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8685_C/A homo ENSG00000198899 synonymous_variant acC/acA - LOW SNV MT-ATP6 protein_coding - - - 3544 m.8686T>C 8686 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8686_T/C homo ENSG00000198899 missense_variant Tca/Cca rs1569484231 MODERATE SNV MT-ATP6 protein_coding deleterious(0.03) benign(0.289) uncertain_significance,not_provided 3545 m.8688A>C 8688 A C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8688_A/C homo ENSG00000198899 synonymous_variant tcA/tcC - LOW SNV MT-ATP6 protein_coding - - - 3546 m.8688A>T 8688 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8688_A/T homo ENSG00000198899 synonymous_variant tcA/tcT - LOW SNV MT-ATP6 protein_coding - - - 3547 m.8691A>G 8691 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8691_A/G homo ENSG00000198899 synonymous_variant aaA/aaG - LOW SNV MT-ATP6 protein_coding - - - 3548 m.8693A>G 8693 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8693_A/G homo ENSG00000198899 missense_variant cAa/cGa - MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) probably_damaging(0.969) - 3549 m.8697G>A 8697 G A 92 0.012661712 1 0.000137627 7266 0.012799339 MT_8697_G/A homo&heter ENSG00000198899 synonymous_variant atG/atA rs879233543 LOW SNV MT-ATP6 protein_coding - - - 3550 m.8699T>C 8699 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8699_T/C homo ENSG00000198899 missense_variant aTa/aCa - MODERATE SNV MT-ATP6 protein_coding deleterious(0.04) probably_damaging(0.932) - 3551 m.8700A>G 8700 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8700_A/G homo ENSG00000198899 synonymous_variant atA/atG - LOW SNV MT-ATP6 protein_coding - - - 3552 m.8701A>C 8701 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8701_A/C homo ENSG00000198899 missense_variant Acc/Ccc - MODERATE SNV MT-ATP6 protein_coding tolerated(0.14) benign(0.409) - 3553 m.8701A>G 8701 A G 3754 0.516652904 0 0.000000000 7266 0.516652904 MT_8701_A/G homo ENSG00000198899 missense_variant Acc/Gcc rs2000975 MODERATE SNV MT-ATP6 protein_coding tolerated(0.51) benign(0.005) - 3554 m.8702C>T 8702 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8702_C/T homo ENSG00000198899 missense_variant aCc/aTc - MODERATE SNV MT-ATP6 protein_coding tolerated(0.35) benign(0.005) - 3555 m.8703C>T 8703 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8703_C/T homo ENSG00000198899 synonymous_variant acC/acT rs1556423519 LOW SNV MT-ATP6 protein_coding - - - 3556 m.8705T>C 8705 T C 13 0.001789155 2 0.000275255 7266 0.002064410 MT_8705_T/C homo&heter ENSG00000198899 missense_variant aTa/aCa rs878959404 MODERATE SNV MT-ATP6 protein_coding tolerated(0.68) benign(0) - 3557 m.8706A>G 8706 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_8706_A/G homo ENSG00000198899 synonymous_variant atA/atG rs1556423521 LOW SNV MT-ATP6 protein_coding - - - 3558 m.8709C>T 8709 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8709_C/T homo ENSG00000198899 synonymous_variant caC/caT rs1556423522 LOW SNV MT-ATP6 protein_coding - - - 3559 m.8711A>G 8711 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_8711_A/G homo&heter ENSG00000198899 missense_variant aAc/aGc rs1556423524 MODERATE SNV MT-ATP6 protein_coding tolerated(0.17) benign(0.017) - 3560 m.8715T>C 8715 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8715_T/C homo ENSG00000198899 synonymous_variant acT/acC rs1556423525 LOW SNV MT-ATP6 protein_coding - - - 3561 m.8718A>G 8718 A G 21 0.002890173 1 0.000137627 7266 0.003027801 MT_8718_A/G homo&heter ENSG00000198899 synonymous_variant aaA/aaG rs1556423526 LOW SNV MT-ATP6 protein_coding - - - 3562 m.8721A>G 8721 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8721_A/G homo ENSG00000198899 synonymous_variant ggA/ggG - LOW SNV MT-ATP6 protein_coding - - - 3563 m.8723G>A 8723 G A 6 0.000825764 2 0.000275255 7266 0.001101018 MT_8723_G/A homo&heter ENSG00000198899 missense_variant cGa/cAa - MODERATE SNV MT-ATP6 protein_coding tolerated(0.55) benign(0.012) - 3564 m.8724A>G 8724 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_8724_A/G homo ENSG00000198899 synonymous_variant cgA/cgG - LOW SNV MT-ATP6 protein_coding - - - 3565 m.8725A>G 8725 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8725_A/G homo ENSG00000198899 missense_variant Acc/Gcc rs879216744 MODERATE SNV MT-ATP6 protein_coding tolerated(0.08) benign(0.01) - 3566 m.8727C>T 8727 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8727_C/T homo ENSG00000198899 synonymous_variant acC/acT - LOW SNV MT-ATP6 protein_coding - - - 3567 m.8730A>G 8730 A G 13 0.001789155 0 0.000000000 7266 0.001789155 MT_8730_A/G homo ENSG00000198899 synonymous_variant tgA/tgG rs879148853 LOW SNV MT-ATP6 protein_coding - - - 3568 m.8732C>T 8732 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8732_C/T heter ENSG00000198899 missense_variant tCt/tTt - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.996) - 3569 m.8733T>C 8733 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_8733_T/C homo&heter ENSG00000198899 synonymous_variant tcT/tcC - LOW SNV MT-ATP6 protein_coding - - - 3570 m.8736T>C 8736 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8736_T/C homo ENSG00000198899 synonymous_variant ctT/ctC rs879110334 LOW SNV MT-ATP6 protein_coding - - - 3571 m.8738T>C 8738 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_8738_T/C heter ENSG00000198899 missense_variant aTa/aCa - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.932) - 3572 m.8739A>G 8739 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8739_A/G homo ENSG00000198899 synonymous_variant atA/atG - LOW SNV MT-ATP6 protein_coding - - - 3573 m.8740C>T 8740 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8740_C/T homo ENSG00000198899 synonymous_variant Cta/Tta - LOW SNV MT-ATP6 protein_coding - - - 3574 m.8742A>G 8742 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8742_A/G homo ENSG00000198899 synonymous_variant ctA/ctG - LOW SNV MT-ATP6 protein_coding - - - 3575 m.8743G>A 8743 G A 4 0.000550509 1 0.000137627 7266 0.000688137 MT_8743_G/A homo&heter ENSG00000198899 missense_variant Gta/Ata - MODERATE SNV MT-ATP6 protein_coding tolerated(0.54) benign(0.005) - 3576 m.8744T>C 8744 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_8744_T/C heter ENSG00000198899 missense_variant gTa/gCa - MODERATE SNV MT-ATP6 protein_coding tolerated(0.3) benign(0.036) - 3577 m.8745A>G 8745 A G 11 0.001513900 1 0.000137627 7266 0.001651528 MT_8745_A/G homo&heter ENSG00000198899 synonymous_variant gtA/gtG - LOW SNV MT-ATP6 protein_coding - - - 3578 m.8748C>T 8748 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_8748_C/T homo ENSG00000198899 synonymous_variant tcC/tcT - LOW SNV MT-ATP6 protein_coding - - - 3579 m.8749T>C 8749 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_8749_T/C homo&heter ENSG00000198899 synonymous_variant Tta/Cta - LOW SNV MT-ATP6 protein_coding - - - 3580 m.8751A>G 8751 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8751_A/G homo ENSG00000198899 synonymous_variant ttA/ttG - LOW SNV MT-ATP6 protein_coding - - - 3581 m.8753T>C 8753 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8753_T/C heter ENSG00000198899 missense_variant aTc/aCc - MODERATE SNV MT-ATP6 protein_coding tolerated(0.05) probably_damaging(0.98) - 3582 m.8754C>T 8754 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8754_C/T homo ENSG00000198899 synonymous_variant atC/atT - LOW SNV MT-ATP6 protein_coding - - - 3583 m.8756T>C 8756 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8756_T/C homo ENSG00000198899 missense_variant aTt/aCt rs1556423532 MODERATE SNV MT-ATP6 protein_coding tolerated(0.29) benign(0.003) - 3584 m.8757T>C 8757 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8757_T/C homo ENSG00000198899 synonymous_variant atT/atC - LOW SNV MT-ATP6 protein_coding - - - 3585 m.8762T>C 8762 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_8762_T/C homo ENSG00000198899 missense_variant aTt/aCt - MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) probably_damaging(0.98) - 3586 m.8763T>C 8763 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8763_T/C homo ENSG00000198899 synonymous_variant atT/atC - LOW SNV MT-ATP6 protein_coding - - - 3587 m.8764G>A 8764 G A 18 0.002477291 1 0.000137627 7266 0.002614919 MT_8764_G/A homo&heter ENSG00000198899 missense_variant Gcc/Acc rs1556423534 MODERATE SNV MT-ATP6 protein_coding tolerated(0.12) benign(0.007) - 3588 m.8767A>G 8767 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_8767_A/G homo ENSG00000198899 missense_variant Aca/Gca - MODERATE SNV MT-ATP6 protein_coding deleterious(0.04) benign(0.178) - 3589 m.8767A>T 8767 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8767_A/T homo ENSG00000198899 missense_variant Aca/Tca - MODERATE SNV MT-ATP6 protein_coding tolerated(1) benign(0.027) - 3590 m.8768C>T 8768 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8768_C/T homo ENSG00000198899 missense_variant aCa/aTa rs386829048 MODERATE SNV MT-ATP6 protein_coding tolerated(0.16) probably_damaging(0.909) - 3591 m.8772T>C 8772 T C 40 0.005505092 1 0.000137627 7266 0.005642720 MT_8772_T/C homo&heter ENSG00000198899 synonymous_variant acT/acC rs386829049 LOW SNV MT-ATP6 protein_coding - - - 3592 m.8774A>G 8774 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_8774_A/G homo&heter ENSG00000198899 missense_variant aAc/aGc - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.988) - 3593 m.8781C>A 8781 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8781_C/A homo ENSG00000198899 synonymous_variant ctC/ctA rs369034118 LOW SNV MT-ATP6 protein_coding - - uncertain_significance 3594 m.8782G>A 8782 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8782_G/A heter ENSG00000198899 stop_gained Gga/Aga - HIGH SNV MT-ATP6 protein_coding - - - 3595 m.8783G>A 8783 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_8783_G/A homo&heter ENSG00000198899 missense_variant gGa/gAa - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.999) - 3596 m.8784A>G 8784 A G 74 0.010184421 0 0.000000000 7266 0.010184421 MT_8784_A/G homo ENSG00000198899 synonymous_variant ggA/ggG rs3094283 LOW SNV MT-ATP6 protein_coding - - - 3597 m.8784A>T 8784 A T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8784_A/T homo ENSG00000198899 synonymous_variant ggA/ggT - LOW SNV MT-ATP6 protein_coding - - - 3598 m.8785C>G 8785 C G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8785_C/G homo ENSG00000198899 missense_variant Ctc/Gtc - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.988) - 3599 m.8788C>T 8788 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8788_C/T homo ENSG00000198899 synonymous_variant Ctg/Ttg - LOW SNV MT-ATP6 protein_coding - - - 3600 m.8790G>A 8790 G A 34 0.004679328 1 0.000137627 7266 0.004816956 MT_8790_G/A homo&heter ENSG00000198899 synonymous_variant ctG/ctA rs878853063 LOW SNV MT-ATP6 protein_coding - - likely_benign 3601 m.8790G>C 8790 G C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8790_G/C homo ENSG00000198899 synonymous_variant ctG/ctC - LOW SNV MT-ATP6 protein_coding - - - 3602 m.8793T>C 8793 T C 83 0.011423066 0 0.000000000 7266 0.011423066 MT_8793_T/C homo ENSG00000198899 synonymous_variant ccT/ccC rs1556423537 LOW SNV MT-ATP6 protein_coding - - - 3603 m.8794C>T 8794 C T 486 0.066886870 0 0.000000000 7266 0.066886870 MT_8794_C/T homo ENSG00000198899 missense_variant Cac/Tac rs2298007,COSV62293579 MODERATE SNV MT-ATP6 protein_coding tolerated(1) benign(0.003) - 3604 m.8800T>G 8800 T G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8800_T/G heter ENSG00000198899 missense_variant Ttt/Gtt - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.985) - 3605 m.8802T>C 8802 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_8802_T/C homo ENSG00000198899 synonymous_variant ttT/ttC rs1556423540,COSV62293763 LOW SNV MT-ATP6 protein_coding - - - 3606 m.8803A>G 8803 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8803_A/G homo ENSG00000198899 missense_variant Aca/Gca - MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) probably_damaging(0.988) - 3607 m.8804C>T 8804 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_8804_C/T homo&heter ENSG00000198899 missense_variant aCa/aTa - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.998) - 3608 m.8805A>G 8805 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8805_A/G homo ENSG00000198899 synonymous_variant acA/acG - LOW SNV MT-ATP6 protein_coding - - - 3609 m.8808A>G 8808 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8808_A/G homo ENSG00000198899 synonymous_variant ccA/ccG - LOW SNV MT-ATP6 protein_coding - - - 3610 m.8811C>T 8811 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8811_C/T homo ENSG00000198899 synonymous_variant acC/acT - LOW SNV MT-ATP6 protein_coding - - - 3611 m.8812A>G 8812 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_8812_A/G homo ENSG00000198899 missense_variant Acc/Gcc rs1556423543 MODERATE SNV MT-ATP6 protein_coding tolerated(0.05) probably_damaging(0.988) - 3612 m.8812A>T 8812 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8812_A/T homo ENSG00000198899 missense_variant Acc/Tcc - MODERATE SNV MT-ATP6 protein_coding deleterious(0.03) probably_damaging(0.988) - 3613 m.8817A>G 8817 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8817_A/G homo ENSG00000198899 synonymous_variant caA/caG rs372489053 LOW SNV MT-ATP6 protein_coding - - - 3614 m.8818C>T 8818 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_8818_C/T homo ENSG00000198899 synonymous_variant Cta/Tta rs878853097 LOW SNV MT-ATP6 protein_coding - - likely_benign 3615 m.8820A>G 8820 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8820_A/G homo ENSG00000198899 synonymous_variant ctA/ctG - LOW SNV MT-ATP6 protein_coding - - - 3616 m.8821T>C 8821 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8821_T/C homo ENSG00000198899 missense_variant Tct/Cct - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.989) - 3617 m.8821T>G 8821 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8821_T/G homo ENSG00000198899 missense_variant Tct/Gct - MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) probably_damaging(0.947) - 3618 m.8822C>T 8822 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8822_C/T homo ENSG00000198899 missense_variant tCt/tTt COSV62294449 MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.996) - 3619 m.8823T>C 8823 T C 14 0.001926782 0 0.000000000 7266 0.001926782 MT_8823_T/C homo ENSG00000198899 synonymous_variant tcT/tcC - LOW SNV MT-ATP6 protein_coding - - - 3620 m.8824A>G 8824 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8824_A/G homo ENSG00000198899 missense_variant Ata/Gta - MODERATE SNV MT-ATP6 protein_coding deleterious(0.02) possibly_damaging(0.77) - 3621 m.8825T>C 8825 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8825_T/C homo ENSG00000198899 missense_variant aTa/aCa - MODERATE SNV MT-ATP6 protein_coding deleterious(0.02) probably_damaging(0.932) - 3622 m.8829C>T 8829 C T 105 0.014450867 0 0.000000000 7266 0.014450867 MT_8829_C/T homo ENSG00000198899 synonymous_variant aaC/aaT rs2000976 LOW SNV MT-ATP6 protein_coding - - - 3623 m.8832A>G 8832 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8832_A/G homo ENSG00000198899 synonymous_variant ctA/ctG - LOW SNV MT-ATP6 protein_coding - - - 3624 m.8835C>T 8835 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8835_C/T homo ENSG00000198899 synonymous_variant gcC/gcT rs386829051 LOW SNV MT-ATP6 protein_coding - - - 3625 m.8836A>G 8836 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8836_A/G homo ENSG00000198899 missense_variant Atg/Gtg - MODERATE SNV MT-ATP6 protein_coding deleterious(0) possibly_damaging(0.77) - 3626 m.8837T>C 8837 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8837_T/C homo ENSG00000198899 missense_variant aTg/aCg - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.932) - 3627 m.8838G>A 8838 G A 6 0.000825764 1 0.000137627 7266 0.000963391 MT_8838_G/A homo&heter ENSG00000198899 synonymous_variant atG/atA rs369202065 LOW SNV MT-ATP6 protein_coding - - - 3628 m.8839G>A 8839 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8839_G/A homo ENSG00000198899 missense_variant Gcc/Acc rs1556423547 MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.995) - 3629 m.8841C>T 8841 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_8841_C/T homo ENSG00000198899 synonymous_variant gcC/gcT rs1556423549 LOW SNV MT-ATP6 protein_coding - - - 3630 m.8842A>C 8842 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8842_A/C homo ENSG00000198899 missense_variant Atc/Ctc rs386829052 MODERATE SNV MT-ATP6 protein_coding tolerated(0.14) benign(0.036) - 3631 m.8842A>G 8842 A G 14 0.001926782 0 0.000000000 7266 0.001926782 MT_8842_A/G homo ENSG00000198899 missense_variant Atc/Gtc - MODERATE SNV MT-ATP6 protein_coding tolerated(0.57) benign(0.003) - 3632 m.8843T>C 8843 T C 14 0.001926782 2 0.000275255 7266 0.002202037 MT_8843_T/C homo&heter ENSG00000198899 missense_variant aTc/aCc rs386829053,COSV62294144 MODERATE SNV MT-ATP6 protein_coding tolerated(0.06) benign(0.191) - 3633 m.8844C>T 8844 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8844_C/T homo ENSG00000198899 synonymous_variant atC/atT - LOW SNV MT-ATP6 protein_coding - - - 3634 m.8847C>A 8847 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8847_C/A homo ENSG00000198899 synonymous_variant ccC/ccA - LOW SNV MT-ATP6 protein_coding - - - 3635 m.8848T>C 8848 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_8848_T/C homo ENSG00000198899 synonymous_variant Tta/Cta - LOW SNV MT-ATP6 protein_coding - - - 3636 m.8850A>G 8850 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8850_A/G homo ENSG00000198899 synonymous_variant ttA/ttG - LOW SNV MT-ATP6 protein_coding - - - 3637 m.8851T>C 8851 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8851_T/C homo ENSG00000198899 missense_variant Tga/Cga rs199476136 MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.997) pathogenic,likely_pathogenic 3638 m.8853A>G 8853 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8853_A/G homo ENSG00000198899 synonymous_variant tgA/tgG rs386829054 LOW SNV MT-ATP6 protein_coding - - - 3639 m.8854G>A 8854 G A 8 0.001101018 1 0.000137627 7266 0.001238646 MT_8854_G/A homo&heter ENSG00000198899 missense_variant Gcg/Acg rs386829055 MODERATE SNV MT-ATP6 protein_coding tolerated(0.06) benign(0.007) - 3640 m.8855C>T 8855 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8855_C/T homo ENSG00000198899 missense_variant gCg/gTg - MODERATE SNV MT-ATP6 protein_coding deleterious(0.03) benign(0.138) - 3641 m.8856G>A 8856 G A 82 0.011285439 2 0.000275255 7266 0.011560694 MT_8856_G/A homo&heter ENSG00000198899 synonymous_variant gcG/gcA rs878853078 LOW SNV MT-ATP6 protein_coding - - likely_benign 3642 m.8857G>A 8857 G A 2 0.000275255 2 0.000275255 7266 0.000550509 MT_8857_G/A homo&heter ENSG00000198899 missense_variant Ggc/Agc rs201017581 MODERATE SNV MT-ATP6 protein_coding tolerated(0.06) benign(0.123) - 3643 m.8858G>A 8858 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8858_G/A heter ENSG00000198899 missense_variant gGc/gAc - MODERATE SNV MT-ATP6 protein_coding deleterious(0) possibly_damaging(0.79) - 3644 m.8859C>T 8859 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8859_C/T homo ENSG00000198899 synonymous_variant ggC/ggT rs1556423554 LOW SNV MT-ATP6 protein_coding - - - 3645 m.8860A>C 8860 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8860_A/C homo ENSG00000198899 missense_variant Aca/Cca - MODERATE SNV MT-ATP6 protein_coding deleterious(0) benign(0.31) - 3646 m.8860A>G 8860 A G 7250 0.997797963 1 0.000137627 7266 0.997935590 MT_8860_A/G homo&heter ENSG00000198899 missense_variant Aca/Gca rs2001031 MODERATE SNV MT-ATP6 protein_coding tolerated(0.1) benign(0.003) - 3647 m.8862A>G 8862 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8862_A/G homo ENSG00000198899 synonymous_variant acA/acG - LOW SNV MT-ATP6 protein_coding - - - 3648 m.8863G>A 8863 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8863_G/A homo ENSG00000198899 missense_variant Gtg/Atg - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.997) - 3649 m.8865G>A 8865 G A 21 0.002890173 3 0.000412882 7266 0.003303055 MT_8865_G/A homo&heter ENSG00000198899 synonymous_variant gtG/gtA rs386829056 LOW SNV MT-ATP6 protein_coding - - benign 3650 m.8867T>C 8867 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_8867_T/C homo&heter ENSG00000198899 missense_variant aTt/aCt - MODERATE SNV MT-ATP6 protein_coding deleterious(0.02) benign(0) - 3651 m.8868T>C 8868 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8868_T/C homo ENSG00000198899 synonymous_variant atT/atC rs1556423556 LOW SNV MT-ATP6 protein_coding - - - 3652 m.8869A>G 8869 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8869_A/G homo ENSG00000198899 missense_variant Ata/Gta rs41432347 MODERATE SNV MT-ATP6 protein_coding tolerated(0.23) benign(0.003) - 3653 m.8870T>C 8870 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8870_T/C homo ENSG00000198899 missense_variant aTa/aCa rs1556423560 MODERATE SNV MT-ATP6 protein_coding tolerated(0.64) benign(0) - 3654 m.8871A>G 8871 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_8871_A/G homo&heter ENSG00000198899 synonymous_variant atA/atG - LOW SNV MT-ATP6 protein_coding - - - 3655 m.8875T>C 8875 T C 45 0.006193229 0 0.000000000 7266 0.006193229 MT_8875_T/C homo ENSG00000198899 missense_variant Ttt/Ctt rs201123510 MODERATE SNV MT-ATP6 protein_coding tolerated(1) benign(0.001) - 3656 m.8877T>C 8877 T C 33 0.004541701 0 0.000000000 7266 0.004541701 MT_8877_T/C homo ENSG00000198899 synonymous_variant ttT/ttC rs1569484242 LOW SNV MT-ATP6 protein_coding - - - 3657 m.8881T>C 8881 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_8881_T/C heter ENSG00000198899 missense_variant Tct/Cct - MODERATE SNV MT-ATP6 protein_coding deleterious(0.02) benign(0.149) - 3658 m.8884A>G 8884 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8884_A/G homo ENSG00000198899 missense_variant Aag/Gag - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.988) - 3659 m.8886G>A 8886 G A 8 0.001101018 1 0.000137627 7266 0.001238646 MT_8886_G/A homo&heter ENSG00000198899 synonymous_variant aaG/aaA rs386829057 LOW SNV MT-ATP6 protein_coding - - likely_benign 3660 m.8887A>G 8887 A G 12 0.001651528 0 0.000000000 7266 0.001651528 MT_8887_A/G homo ENSG00000198899 missense_variant Att/Gtt rs1556423565 MODERATE SNV MT-ATP6 protein_coding tolerated(0.07) benign(0) - 3661 m.8889T>C 8889 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8889_T/C homo ENSG00000198899 synonymous_variant atT/atC rs386829058 LOW SNV MT-ATP6 protein_coding - - - 3662 m.8895T>C 8895 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8895_T/C homo ENSG00000198899 synonymous_variant aaT/aaC - LOW SNV MT-ATP6 protein_coding - - - 3663 m.8896G>A 8896 G A 11 0.001513900 1 0.000137627 7266 0.001651528 MT_8896_G/A homo&heter ENSG00000198899 missense_variant Gcc/Acc rs202120082 MODERATE SNV MT-ATP6 protein_coding tolerated(0.12) benign(0.001) - 3664 m.8897C>T 8897 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8897_C/T homo ENSG00000198899 missense_variant gCc/gTc - MODERATE SNV MT-ATP6 protein_coding deleterious(0) benign(0.092) - 3665 m.8898C>T 8898 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8898_C/T homo ENSG00000198899 synonymous_variant gcC/gcT rs1556423569 LOW SNV MT-ATP6 protein_coding - - - 3666 m.8901A>G 8901 A G 6 0.000825764 1 0.000137627 7266 0.000963391 MT_8901_A/G homo&heter ENSG00000198899 synonymous_variant ctA/ctG rs1556423570 LOW SNV MT-ATP6 protein_coding - - - 3667 m.8902G>A 8902 G A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8902_G/A homo ENSG00000198899 missense_variant Gcc/Acc - MODERATE SNV MT-ATP6 protein_coding deleterious(0.02) benign(0.02) - 3668 m.8906A>G 8906 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8906_A/G homo ENSG00000198899 missense_variant cAc/cGc - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.98) - 3669 m.8908T>C 8908 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8908_T/C homo ENSG00000198899 missense_variant Ttc/Ctc - MODERATE SNV MT-ATP6 protein_coding tolerated(1) benign(0) - 3670 m.8910C>T 8910 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8910_C/T homo ENSG00000198899 synonymous_variant ttC/ttT - LOW SNV MT-ATP6 protein_coding - - - 3671 m.8911T>C 8911 T C 8 0.001101018 1 0.000137627 7266 0.001238646 MT_8911_T/C homo&heter ENSG00000198899 synonymous_variant Tta/Cta - LOW SNV MT-ATP6 protein_coding - - - 3672 m.8913A>G 8913 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8913_A/G homo ENSG00000198899 synonymous_variant ttA/ttG rs1556423571 LOW SNV MT-ATP6 protein_coding - - - 3673 m.8920G>A 8920 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8920_G/A homo ENSG00000198899 missense_variant Ggc/Agc rs28406348 MODERATE SNV MT-ATP6 protein_coding deleterious(0.02) probably_damaging(0.998) - 3674 m.8921G>A 8921 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8921_G/A heter ENSG00000198899 missense_variant gGc/gAc rs2298008 MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.999) - 3675 m.8922C>T 8922 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8922_C/T homo ENSG00000198899 synonymous_variant ggC/ggT - LOW SNV MT-ATP6 protein_coding - - - 3676 m.8923A>G 8923 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8923_A/G homo ENSG00000198899 missense_variant Aca/Gca rs200329150 MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.988) - 3677 m.8925A>G 8925 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_8925_A/G homo ENSG00000198899 synonymous_variant acA/acG - LOW SNV MT-ATP6 protein_coding - - - 3678 m.8928T>C 8928 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8928_T/C homo ENSG00000198899 synonymous_variant ccT/ccC rs373263135 LOW SNV MT-ATP6 protein_coding - - - 3679 m.8930C>T 8930 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8930_C/T homo ENSG00000198899 missense_variant aCa/aTa - MODERATE SNV MT-ATP6 protein_coding tolerated(0.05) probably_damaging(0.998) - 3680 m.8931A>G 8931 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8931_A/G homo ENSG00000198899 synonymous_variant acA/acG - LOW SNV MT-ATP6 protein_coding - - - 3681 m.8932C>T 8932 C T 28 0.003853565 0 0.000000000 7266 0.003853565 MT_8932_C/T homo ENSG00000198899 missense_variant Ccc/Tcc rs878853013 MODERATE SNV MT-ATP6 protein_coding tolerated(0.11) probably_damaging(0.996) benign,likely_benign 3682 m.8935C>A 8935 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8935_C/A homo ENSG00000198899 missense_variant Ctt/Att - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.988) - 3683 m.8935C>T 8935 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8935_C/T homo ENSG00000198899 missense_variant Ctt/Ttt rs28377547 MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.997) - 3684 m.8937T>C 8937 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8937_T/C homo ENSG00000198899 synonymous_variant ctT/ctC COSV62293335 LOW SNV MT-ATP6 protein_coding - - - 3685 m.8939T>C 8939 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8939_T/C homo ENSG00000198899 missense_variant aTc/aCc - MODERATE SNV MT-ATP6 protein_coding deleterious(0.02) probably_damaging(0.98) - 3686 m.8940C>T 8940 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8940_C/T homo ENSG00000198899 synonymous_variant atC/atT - LOW SNV MT-ATP6 protein_coding - - - 3687 m.8943C>T 8943 C T 14 0.001926782 0 0.000000000 7266 0.001926782 MT_8943_C/T homo ENSG00000198899 synonymous_variant ccC/ccT rs1057520204 LOW SNV MT-ATP6 protein_coding - - likely_benign 3688 m.8944A>G 8944 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8944_A/G homo ENSG00000198899 missense_variant Ata/Gta - MODERATE SNV MT-ATP6 protein_coding tolerated(0.58) possibly_damaging(0.77) - 3689 m.8945T>C 8945 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8945_T/C homo ENSG00000198899 missense_variant aTa/aCa - MODERATE SNV MT-ATP6 protein_coding deleterious(0.05) probably_damaging(0.932) - 3690 m.8946A>G 8946 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_8946_A/G homo ENSG00000198899 synonymous_variant atA/atG rs879181854 LOW SNV MT-ATP6 protein_coding - - - 3691 m.8947C>T 8947 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_8947_C/T homo ENSG00000198899 synonymous_variant Cta/Tta rs1569484248 LOW SNV MT-ATP6 protein_coding - - - 3692 m.8950G>A 8950 G A 7 0.000963391 0 0.000000000 7266 0.000963391 MT_8950_G/A homo ENSG00000198899 missense_variant Gtt/Att rs1556423574,COSV62293017 MODERATE SNV MT-ATP6 protein_coding tolerated(1) benign(0) benign,likely_pathogenic 3693 m.8952T>C 8952 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_8952_T/C homo&heter ENSG00000198899 synonymous_variant gtT/gtC - LOW SNV MT-ATP6 protein_coding - - - 3694 m.8952T>G 8952 T G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8952_T/G heter ENSG00000198899 synonymous_variant gtT/gtG - LOW SNV MT-ATP6 protein_coding - - - 3695 m.8954T>C 8954 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8954_T/C homo ENSG00000198899 missense_variant aTt/aCt rs1556423576 MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.98) - 3696 m.8955T>C 8955 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8955_T/C homo ENSG00000198899 synonymous_variant atT/atC - LOW SNV MT-ATP6 protein_coding - - - 3697 m.8958C>T 8958 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8958_C/T homo ENSG00000198899 synonymous_variant atC/atT - LOW SNV MT-ATP6 protein_coding - - - 3698 m.8959G>A 8959 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8959_G/A heter ENSG00000198899 missense_variant Gaa/Aaa - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.988) - 3699 m.8961A>G 8961 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8961_A/G homo ENSG00000198899 synonymous_variant gaA/gaG rs1556423578 LOW SNV MT-ATP6 protein_coding - - - 3700 m.8962A>G 8962 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8962_A/G homo ENSG00000198899 missense_variant Acc/Gcc - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.988) - 3701 m.8964C>T 8964 C T 142 0.019543077 0 0.000000000 7266 0.019543077 MT_8964_C/T homo ENSG00000198899 synonymous_variant acC/acT rs879040895 LOW SNV MT-ATP6 protein_coding - - - 3702 m.8965A>G 8965 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8965_A/G heter ENSG00000198899 missense_variant Atc/Gtc - MODERATE SNV MT-ATP6 protein_coding deleterious(0.03) benign(0.005) - 3703 m.8966T>C 8966 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_8966_T/C homo&heter ENSG00000198899 missense_variant aTc/aCc rs1556423580 MODERATE SNV MT-ATP6 protein_coding deleterious(0.05) benign(0.28) - 3704 m.8968A>G 8968 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8968_A/G heter ENSG00000198899 missense_variant Agc/Ggc - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.978) - 3705 m.8970C>T 8970 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_8970_C/T homo ENSG00000198899 synonymous_variant agC/agT rs1556423581 LOW SNV MT-ATP6 protein_coding - - - 3706 m.8973A>G 8973 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8973_A/G homo ENSG00000198899 synonymous_variant ctA/ctG - LOW SNV MT-ATP6 protein_coding - - - 3707 m.8974C>G 8974 C G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8974_C/G homo ENSG00000198899 missense_variant Ctc/Gtc - MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) benign(0.057) - 3708 m.8975T>C 8975 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8975_T/C homo ENSG00000198899 missense_variant cTc/cCc rs1981459 MODERATE SNV MT-ATP6 protein_coding deleterious(0) possibly_damaging(0.56) - 3709 m.8978T>C 8978 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8978_T/C homo ENSG00000198899 missense_variant aTt/aCt - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.98) - 3710 m.8981A>G 8981 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8981_A/G homo ENSG00000198899 missense_variant cAa/cGa - MODERATE SNV MT-ATP6 protein_coding tolerated(1) probably_damaging(0.969) - 3711 m.8982A>G 8982 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_8982_A/G homo&heter ENSG00000198899 synonymous_variant caA/caG - LOW SNV MT-ATP6 protein_coding - - - 3712 m.8986A>G 8986 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8986_A/G homo ENSG00000198899 missense_variant Ata/Gta - MODERATE SNV MT-ATP6 protein_coding tolerated(0.34) benign(0) - 3713 m.8987T>C 8987 T C 9 0.001238646 1 0.000137627 7266 0.001376273 MT_8987_T/C homo&heter ENSG00000198899 missense_variant aTa/aCa - MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) benign(0.062) - 3714 m.8988A>G 8988 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_8988_A/G homo ENSG00000198899 synonymous_variant atA/atG - LOW SNV MT-ATP6 protein_coding - - - 3715 m.8989G>A 8989 G A 5 0.000688137 1 0.000137627 7266 0.000825764 MT_8989_G/A homo&heter ENSG00000198899 missense_variant Gcc/Acc - MODERATE SNV MT-ATP6 protein_coding deleterious(0.03) probably_damaging(0.995) - 3716 m.8991C>T 8991 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_8991_C/T homo ENSG00000198899 synonymous_variant gcC/gcT - LOW SNV MT-ATP6 protein_coding - - - 3717 m.8992C>T 8992 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8992_C/T homo ENSG00000198899 synonymous_variant Ctg/Ttg - LOW SNV MT-ATP6 protein_coding - - - 3718 m.8993T>C 8993 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_8993_T/C heter ENSG00000198899 missense_variant cTg/cCg rs199476133 MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.998) pathogenic 3719 m.8994G>A 8994 G A 58 0.007982384 0 0.000000000 7266 0.007982384 MT_8994_G/A homo ENSG00000198899 synonymous_variant ctG/ctA rs28358887,COSV62293224 LOW SNV MT-ATP6 protein_coding - - - 3720 m.8997C>T 8997 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8997_C/T homo ENSG00000198899 synonymous_variant gcC/gcT - LOW SNV MT-ATP6 protein_coding - - - 3721 m.8998G>A 8998 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_8998_G/A homo ENSG00000198899 missense_variant Gta/Ata rs376792657 MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) possibly_damaging(0.484) - 3722 m.8999T>C 8999 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_8999_T/C homo ENSG00000198899 missense_variant gTa/gCa - MODERATE SNV MT-ATP6 protein_coding deleterious(0) benign(0) - 3723 m.9000A>G 9000 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9000_A/G homo ENSG00000198899 synonymous_variant gtA/gtG - LOW SNV MT-ATP6 protein_coding - - - 3724 m.9003C>T 9003 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9003_C/T homo ENSG00000198899 synonymous_variant cgC/cgT - LOW SNV MT-ATP6 protein_coding - - - 3725 m.9005T>C 9005 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9005_T/C heter ENSG00000198899 missense_variant cTa/cCa - MODERATE SNV MT-ATP6 protein_coding deleterious(0) benign(0.31) - 3726 m.9006A>G 9006 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9006_A/G homo ENSG00000198899 synonymous_variant ctA/ctG rs1556423587 LOW SNV MT-ATP6 protein_coding - - likely_benign 3727 m.9007A>G 9007 A G 15 0.002064410 1 0.000137627 7266 0.002202037 MT_9007_A/G homo&heter ENSG00000198899 missense_variant Acc/Gcc - MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) probably_damaging(0.988) - 3728 m.9007A>T 9007 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9007_A/T homo ENSG00000198899 missense_variant Acc/Tcc - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.988) - 3729 m.9010G>A 9010 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_9010_G/A homo&heter ENSG00000198899 missense_variant Gct/Act rs1556423589 MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.995) - 3730 m.9012T>C 9012 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9012_T/C homo ENSG00000198899 synonymous_variant gcT/gcC - LOW SNV MT-ATP6 protein_coding - - - 3731 m.9016A>G 9016 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9016_A/G homo ENSG00000198899 missense_variant Att/Gtt rs1556423591 MODERATE SNV MT-ATP6 protein_coding deleterious(0.04) possibly_damaging(0.885) - 3732 m.9017T>C 9017 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9017_T/C homo ENSG00000198899 missense_variant aTt/aCt - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.98) - 3733 m.9018T>C 9018 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_9018_T/C homo ENSG00000198899 synonymous_variant atT/atC rs879176661 LOW SNV MT-ATP6 protein_coding - - - 3734 m.9022G>A 9022 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9022_G/A homo ENSG00000198899 missense_variant Gca/Aca - MODERATE SNV MT-ATP6 protein_coding deleterious(0.02) probably_damaging(0.995) - 3735 m.9024A>G 9024 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9024_A/G homo ENSG00000198899 synonymous_variant gcA/gcG - LOW SNV MT-ATP6 protein_coding - - - 3736 m.9025G>A 9025 G A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9025_G/A homo ENSG00000198899 missense_variant Ggc/Agc rs28681063 MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) probably_damaging(0.998) - 3737 m.9027C>T 9027 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9027_C/T homo ENSG00000198899 synonymous_variant ggC/ggT - LOW SNV MT-ATP6 protein_coding - - - 3738 m.9030C>T 9030 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9030_C/T homo ENSG00000198899 synonymous_variant caC/caT - LOW SNV MT-ATP6 protein_coding - - - 3739 m.9033A>G 9033 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_9033_A/G homo ENSG00000198899 synonymous_variant ctA/ctG - LOW SNV MT-ATP6 protein_coding - - - 3740 m.9036C>T 9036 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9036_C/T homo ENSG00000198899 synonymous_variant ctC/ctT - LOW SNV MT-ATP6 protein_coding - - - 3741 m.9037A>G 9037 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9037_A/G homo ENSG00000198899 missense_variant Atg/Gtg - MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) possibly_damaging(0.77) - 3742 m.9038T>C 9038 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9038_T/C homo ENSG00000198899 missense_variant aTg/aCg - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.932) - 3743 m.9039G>A 9039 G A 10 0.001376273 0 0.000000000 7266 0.001376273 MT_9039_G/A homo ENSG00000198899 synonymous_variant atG/atA rs1556423595 LOW SNV MT-ATP6 protein_coding - - - 3744 m.9041A>G 9041 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9041_A/G homo ENSG00000198899 missense_variant cAc/cGc rs879244322 MODERATE SNV MT-ATP6 protein_coding deleterious(0.02) benign(0.331) benign,not_provided 3745 m.9042C>T 9042 C T 54 0.007431874 0 0.000000000 7266 0.007431874 MT_9042_C/T homo ENSG00000198899 synonymous_variant caC/caT rs3020605 LOW SNV MT-ATP6 protein_coding - - - 3746 m.9045A>G 9045 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9045_A/G homo ENSG00000198899 synonymous_variant ctA/ctG - LOW SNV MT-ATP6 protein_coding - - - 3747 m.9051A>G 9051 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_9051_A/G homo ENSG00000198899 synonymous_variant ggA/ggG - LOW SNV MT-ATP6 protein_coding - - - 3748 m.9052A>G 9052 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9052_A/G homo ENSG00000198899 missense_variant Agc/Ggc rs1556423597 MODERATE SNV MT-ATP6 protein_coding tolerated(0.44) benign(0.092) - 3749 m.9052A>T 9052 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9052_A/T homo ENSG00000198899 missense_variant Agc/Tgc - MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) possibly_damaging(0.66) - 3750 m.9053G>A 9053 G A 392 0.053949904 1 0.000137627 7266 0.054087531 MT_9053_G/A homo&heter ENSG00000198899 missense_variant aGc/aAc rs199646902 MODERATE SNV MT-ATP6 protein_coding tolerated(0.19) benign(0.134) - 3751 m.9054C>T 9054 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9054_C/T homo ENSG00000198899 synonymous_variant agC/agT - LOW SNV MT-ATP6 protein_coding - - - 3752 m.9055G>A 9055 G A 75 0.010322048 2 0.000275255 7266 0.010597303 MT_9055_G/A homo&heter ENSG00000198899 missense_variant Gcc/Acc rs193303045 MODERATE SNV MT-ATP6 protein_coding tolerated(0.1) benign(0.399) - 3753 m.9058A>G 9058 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_9058_A/G homo ENSG00000198899 missense_variant Acc/Gcc rs1556423599 MODERATE SNV MT-ATP6 protein_coding tolerated(0.49) benign(0.015) - 3754 m.9061C>T 9061 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_9061_C/T homo ENSG00000198899 synonymous_variant Cta/Tta rs386829061 LOW SNV MT-ATP6 protein_coding - - - 3755 m.9064G>A 9064 G A 15 0.002064410 0 0.000000000 7266 0.002064410 MT_9064_G/A homo ENSG00000198899 missense_variant Gca/Aca rs386420013 MODERATE SNV MT-ATP6 protein_coding tolerated(0.46) benign(0.02) - 3756 m.9065C>T 9065 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9065_C/T homo ENSG00000198899 missense_variant gCa/gTa COSV62292996 MODERATE SNV MT-ATP6 protein_coding tolerated(0.97) benign(0.307) - 3757 m.9066A>G 9066 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9066_A/G homo ENSG00000198899 synonymous_variant gcA/gcG rs1556423601 LOW SNV MT-ATP6 protein_coding - - - 3758 m.9067A>G 9067 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_9067_A/G homo ENSG00000198899 missense_variant Ata/Gta - MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) benign(0.007) - 3759 m.9068T>C 9068 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9068_T/C homo ENSG00000198899 missense_variant aTa/aCa - MODERATE SNV MT-ATP6 protein_coding deleterious(0.03) benign(0.029) - 3760 m.9070T>G 9070 T G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9070_T/G homo ENSG00000198899 missense_variant Tca/Gca rs879190502 MODERATE SNV MT-ATP6 protein_coding tolerated(0.12) benign(0.182) - 3761 m.9071C>T 9071 C T 4 0.000550509 1 0.000137627 7266 0.000688137 MT_9071_C/T homo&heter ENSG00000198899 missense_variant tCa/tTa - MODERATE SNV MT-ATP6 protein_coding tolerated(1) benign(0.011) - 3762 m.9072A>G 9072 A G 54 0.007431874 0 0.000000000 7266 0.007431874 MT_9072_A/G homo ENSG00000198899 synonymous_variant tcA/tcG rs6650106 LOW SNV MT-ATP6 protein_coding - - likely_benign 3763 m.9073A>G 9073 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9073_A/G homo ENSG00000198899 missense_variant Acc/Gcc rs1556423603 MODERATE SNV MT-ATP6 protein_coding tolerated(0.18) benign(0.015) - 3764 m.9077T>C 9077 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9077_T/C homo ENSG00000198899 missense_variant aTt/aCt - MODERATE SNV MT-ATP6 protein_coding tolerated(0.17) benign(0.003) - 3765 m.9078T>C 9078 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_9078_T/C homo ENSG00000198899 synonymous_variant atT/atC rs1556423605 LOW SNV MT-ATP6 protein_coding - - - 3766 m.9079A>G 9079 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9079_A/G homo ENSG00000198899 missense_variant Aac/Gac - MODERATE SNV MT-ATP6 protein_coding tolerated(0.18) benign(0.177) - 3767 m.9080A>G 9080 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_9080_A/G homo ENSG00000198899 missense_variant aAc/aGc rs1556423607 MODERATE SNV MT-ATP6 protein_coding tolerated(0.92) benign(0.01) - 3768 m.9082C>T 9082 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9082_C/T homo ENSG00000198899 missense_variant Ctt/Ttt - MODERATE SNV MT-ATP6 protein_coding tolerated(0.76) possibly_damaging(0.749) - 3769 m.9083T>C 9083 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9083_T/C homo ENSG00000198899 missense_variant cTt/cCt - MODERATE SNV MT-ATP6 protein_coding tolerated(0.55) benign(0.01) - 3770 m.9084T>C 9084 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_9084_T/C homo ENSG00000198899 synonymous_variant ctT/ctC - LOW SNV MT-ATP6 protein_coding - - - 3771 m.9086C>T 9086 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9086_C/T homo ENSG00000198899 missense_variant cCc/cTc - MODERATE SNV MT-ATP6 protein_coding tolerated(0.44) possibly_damaging(0.448) - 3772 m.9088T>C 9088 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_9088_T/C homo&heter ENSG00000198899 missense_variant Tct/Cct rs370460521 MODERATE SNV MT-ATP6 protein_coding tolerated(0.06) benign(0.075) - 3773 m.9090T>C 9090 T C 140 0.019267823 3 0.000412882 7266 0.019680705 MT_9090_T/C homo&heter ENSG00000198899 synonymous_variant tcT/tcC rs386829064 LOW SNV MT-ATP6 protein_coding - - - 3774 m.9092C>T 9092 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9092_C/T homo ENSG00000198899 missense_variant aCa/aTa - MODERATE SNV MT-ATP6 protein_coding deleterious(0.02) possibly_damaging(0.709) - 3775 m.9093A>G 9093 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_9093_A/G homo ENSG00000198899 synonymous_variant acA/acG rs41513156 LOW SNV MT-ATP6 protein_coding - - - 3776 m.9094C>T 9094 C T 27 0.003715937 0 0.000000000 7266 0.003715937 MT_9094_C/T homo ENSG00000198899 missense_variant Ctt/Ttt - MODERATE SNV MT-ATP6 protein_coding tolerated(0.16) possibly_damaging(0.749) - 3777 m.9095T>C 9095 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_9095_T/C homo&heter ENSG00000198899 missense_variant cTt/cCt COSV62293308 MODERATE SNV MT-ATP6 protein_coding tolerated(0.06) benign(0.001) - 3778 m.9096T>C 9096 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9096_T/C homo ENSG00000198899 synonymous_variant ctT/ctC - LOW SNV MT-ATP6 protein_coding - - - 3779 m.9097A>G 9097 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9097_A/G homo ENSG00000198899 missense_variant Atc/Gtc - MODERATE SNV MT-ATP6 protein_coding tolerated(0.21) possibly_damaging(0.885) - 3780 m.9098T>C 9098 T C 22 0.003027801 0 0.000000000 7266 0.003027801 MT_9098_T/C homo ENSG00000198899 missense_variant aTc/aCc rs201559119 MODERATE SNV MT-ATP6 protein_coding tolerated(0.1) probably_damaging(0.98) - 3781 m.9098T>G 9098 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9098_T/G homo ENSG00000198899 missense_variant aTc/aGc - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.98) - 3782 m.9099C>A 9099 C A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_9099_C/A homo&heter ENSG00000198899 missense_variant atC/atA - MODERATE SNV MT-ATP6 protein_coding tolerated(0.14) probably_damaging(0.991) - 3783 m.9099C>T 9099 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_9099_C/T homo ENSG00000198899 synonymous_variant atC/atT - LOW SNV MT-ATP6 protein_coding - - - 3784 m.9100A>G 9100 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9100_A/G homo ENSG00000198899 missense_variant Atc/Gtc - MODERATE SNV MT-ATP6 protein_coding deleterious(0.04) benign(0.063) - 3785 m.9101T>C 9101 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_9101_T/C homo&heter ENSG00000198899 missense_variant aTc/aCc rs199476134 MODERATE SNV MT-ATP6 protein_coding tolerated(1) benign(0.007) benign,pathogenic 3786 m.9101T>G 9101 T G 14 0.001926782 0 0.000000000 7266 0.001926782 MT_9101_T/G homo ENSG00000198899 missense_variant aTc/aGc - MODERATE SNV MT-ATP6 protein_coding deleterious(0.05) benign(0.144) - 3787 m.9103T>C 9103 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9103_T/C homo ENSG00000198899 missense_variant Ttc/Ctc - MODERATE SNV MT-ATP6 protein_coding tolerated(0.19) benign(0.005) - 3788 m.9104T>C 9104 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9104_T/C homo ENSG00000198899 missense_variant tTc/tCc - MODERATE SNV MT-ATP6 protein_coding tolerated(0.21) possibly_damaging(0.593) - 3789 m.9105C>T 9105 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_9105_C/T homo ENSG00000198899 synonymous_variant ttC/ttT - LOW SNV MT-ATP6 protein_coding - - - 3790 m.9108A>G 9108 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9108_A/G homo ENSG00000198899 synonymous_variant acA/acG - LOW SNV MT-ATP6 protein_coding - - - 3791 m.9110T>C 9110 T C 11 0.001513900 2 0.000275255 7266 0.001789155 MT_9110_T/C homo&heter ENSG00000198899 missense_variant aTt/aCt - MODERATE SNV MT-ATP6 protein_coding tolerated(0.14) benign(0.124) - 3792 m.9110T>G 9110 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9110_T/G homo ENSG00000198899 missense_variant aTt/aGt - MODERATE SNV MT-ATP6 protein_coding deleterious(0) benign(0.276) - 3793 m.9111T>C 9111 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_9111_T/C homo ENSG00000198899 synonymous_variant atT/atC COSV62293115 LOW SNV MT-ATP6 protein_coding - - - 3794 m.9115A>G 9115 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_9115_A/G homo ENSG00000198899 missense_variant Att/Gtt - MODERATE SNV MT-ATP6 protein_coding tolerated(0.7) benign(0.01) - 3795 m.9116T>C 9116 T C 10 0.001376273 1 0.000137627 7266 0.001513900 MT_9116_T/C homo&heter ENSG00000198899 missense_variant aTt/aCt rs376203575 MODERATE SNV MT-ATP6 protein_coding tolerated(0.33) benign(0) - 3796 m.9117T>C 9117 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_9117_T/C homo ENSG00000198899 synonymous_variant atT/atC rs1556423615 LOW SNV MT-ATP6 protein_coding - - - 3797 m.9118C>T 9118 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9118_C/T homo ENSG00000198899 synonymous_variant Cta/Tta - LOW SNV MT-ATP6 protein_coding - - - 3798 m.9119T>C 9119 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9119_T/C homo ENSG00000198899 missense_variant cTa/cCa - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.998) - 3799 m.9120A>G 9120 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_9120_A/G homo ENSG00000198899 synonymous_variant ctA/ctG rs2298009 LOW SNV MT-ATP6 protein_coding - - - 3800 m.9123G>A 9123 G A 137 0.018854941 0 0.000000000 7266 0.018854941 MT_9123_G/A homo ENSG00000198899 synonymous_variant ctG/ctA rs28358270,COSV62294304 LOW SNV MT-ATP6 protein_coding - - - 3801 m.9126T>C 9126 T C 24 0.003303055 1 0.000137627 7266 0.003440683 MT_9126_T/C homo&heter ENSG00000198899 synonymous_variant acT/acC - LOW SNV MT-ATP6 protein_coding - - - 3802 m.9127A>G 9127 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9127_A/G homo ENSG00000198899 missense_variant Atc/Gtc rs199732761 MODERATE SNV MT-ATP6 protein_coding tolerated(0.12) benign(0) - 3803 m.9128T>C 9128 T C 60 0.008257638 2 0.000275255 7266 0.008532893 MT_9128_T/C homo&heter ENSG00000198899 missense_variant aTc/aCc rs878867946 MODERATE SNV MT-ATP6 protein_coding tolerated(0.11) benign(0.003) - 3804 m.9129C>T 9129 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_9129_C/T homo&heter ENSG00000198899 synonymous_variant atC/atT rs1556423619 LOW SNV MT-ATP6 protein_coding - - - 3805 m.9133G>A 9133 G A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9133_G/A homo ENSG00000198899 missense_variant Gaa/Aaa COSV62293516 MODERATE SNV MT-ATP6 protein_coding deleterious(0.02) probably_damaging(0.988) - 3806 m.9136A>G 9136 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_9136_A/G heter ENSG00000198899 missense_variant Atc/Gtc - MODERATE SNV MT-ATP6 protein_coding tolerated(0.92) benign(0.001) - 3807 m.9138C>A 9138 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9138_C/A homo ENSG00000198899 missense_variant atC/atA - MODERATE SNV MT-ATP6 protein_coding tolerated(0.09) possibly_damaging(0.51) - 3808 m.9138C>T 9138 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9138_C/T homo ENSG00000198899 synonymous_variant atC/atT - LOW SNV MT-ATP6 protein_coding - - - 3809 m.9139G>A 9139 G A 17 0.002339664 1 0.000137627 7266 0.002477291 MT_9139_G/A homo&heter ENSG00000198899 missense_variant Gct/Act rs879243938 MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) probably_damaging(0.995) - 3810 m.9141T>C 9141 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_9141_T/C homo ENSG00000198899 synonymous_variant gcT/gcC - LOW SNV MT-ATP6 protein_coding - - - 3811 m.9142G>A 9142 G A 8 0.001101018 0 0.000000000 7266 0.001101018 MT_9142_G/A homo ENSG00000198899 missense_variant Gtc/Atc rs200660596 MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) benign(0.02) - 3812 m.9145G>A 9145 G A 4 0.000550509 2 0.000275255 7266 0.000825764 MT_9145_G/A homo&heter ENSG00000198899 missense_variant Gcc/Acc rs1556423622,COSV62293210 MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.995) - 3813 m.9148T>C 9148 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_9148_T/C homo&heter ENSG00000198899 synonymous_variant Tta/Cta - LOW SNV MT-ATP6 protein_coding - - - 3814 m.9150A>G 9150 A G 12 0.001651528 1 0.000137627 7266 0.001789155 MT_9150_A/G homo&heter ENSG00000198899 synonymous_variant ttA/ttG rs193303047 LOW SNV MT-ATP6 protein_coding - - - 3815 m.9151A>G 9151 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9151_A/G homo ENSG00000198899 missense_variant Atc/Gtc rs879206297 MODERATE SNV MT-ATP6 protein_coding deleterious(0) possibly_damaging(0.885) - 3816 m.9152T>C 9152 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_9152_T/C homo&heter ENSG00000198899 missense_variant aTc/aCc rs878853096 MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.98) uncertain_significance,likely_benign,not_provided 3817 m.9156A>G 9156 A G 23 0.003165428 0 0.000000000 7266 0.003165428 MT_9156_A/G homo ENSG00000198899 synonymous_variant caA/caG rs376451568 LOW SNV MT-ATP6 protein_coding - - - 3818 m.9157G>A 9157 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_9157_G/A homo&heter ENSG00000198899 missense_variant Gcc/Acc rs1556423625 MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.995) not_provided,likely_benign 3819 m.9160T>C 9160 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9160_T/C heter ENSG00000198899 missense_variant Tac/Cac COSV62294542 MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.997) - 3820 m.9161A>G 9161 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9161_A/G homo ENSG00000198899 missense_variant tAc/tGc - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.998) - 3821 m.9162C>T 9162 C T 5 0.000688137 1 0.000137627 7266 0.000825764 MT_9162_C/T homo&heter ENSG00000198899 synonymous_variant taC/taT - LOW SNV MT-ATP6 protein_coding - - - 3822 m.9163G>A 9163 G A 2 0.000275255 1 0.000137627 7266 0.000412882 MT_9163_G/A homo&heter ENSG00000198899 missense_variant Gtt/Att rs2298010,COSV62293209 MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) probably_damaging(0.971) - 3823 m.9165T>C 9165 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_9165_T/C homo ENSG00000198899 synonymous_variant gtT/gtC - LOW SNV MT-ATP6 protein_coding - - - 3824 m.9166T>C 9166 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_9166_T/C heter ENSG00000198899 missense_variant Ttc/Ctc rs1057516063 MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.978) likely_pathogenic,uncertain_significance 3825 m.9168C>T 9168 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9168_C/T homo ENSG00000198899 synonymous_variant ttC/ttT - LOW SNV MT-ATP6 protein_coding - - - 3826 m.9171A>G 9171 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9171_A/G homo ENSG00000198899 synonymous_variant acA/acG - LOW SNV MT-ATP6 protein_coding - - - 3827 m.9174T>C 9174 T C 4 0.000550509 1 0.000137627 7266 0.000688137 MT_9174_T/C homo&heter ENSG00000198899 synonymous_variant ctT/ctC - LOW SNV MT-ATP6 protein_coding - - - 3828 m.9178G>A 9178 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9178_G/A homo ENSG00000198899 missense_variant Gta/Ata - MODERATE SNV MT-ATP6 protein_coding deleterious(0.02) probably_damaging(0.997) - 3829 m.9178G>C 9178 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9178_G/C homo ENSG00000198899 missense_variant Gta/Cta - MODERATE SNV MT-ATP6 protein_coding tolerated(1) probably_damaging(0.971) - 3830 m.9179T>C 9179 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9179_T/C heter ENSG00000198899 missense_variant gTa/gCa - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.982) - 3831 m.9180A>G 9180 A G 285 0.039223782 0 0.000000000 7266 0.039223782 MT_9180_A/G homo ENSG00000198899 synonymous_variant gtA/gtG rs2298011 LOW SNV MT-ATP6 protein_coding - - - 3832 m.9181A>G 9181 A G 10 0.001376273 1 0.000137627 7266 0.001513900 MT_9181_A/G homo&heter ENSG00000198899 missense_variant Agc/Ggc rs1556423628 MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.978) - 3833 m.9182G>A 9182 G A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_9182_G/A homo ENSG00000198899 missense_variant aGc/aAc rs1556423629 MODERATE SNV MT-ATP6 protein_coding deleterious(0.01) probably_damaging(0.978) - 3834 m.9186C>A 9186 C A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_9186_C/A homo ENSG00000198899 synonymous_variant ctC/ctA - LOW SNV MT-ATP6 protein_coding - - - 3835 m.9186C>T 9186 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9186_C/T homo ENSG00000198899 synonymous_variant ctC/ctT - LOW SNV MT-ATP6 protein_coding - - - 3836 m.9187T>C 9187 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9187_T/C heter ENSG00000198899 missense_variant Tac/Cac - MODERATE SNV MT-ATP6 protein_coding deleterious(0) probably_damaging(0.997) - 3837 m.9189C>T 9189 C T 11 0.001513900 1 0.000137627 7266 0.001651528 MT_9189_C/T homo&heter ENSG00000198899 synonymous_variant taC/taT - LOW SNV MT-ATP6 protein_coding - - - 3838 m.9192G>A 9192 G A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9192_G/A homo ENSG00000198899 synonymous_variant ctG/ctA rs386829070 LOW SNV MT-ATP6 protein_coding - - - 3839 m.9194A>G 9194 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9194_A/G homo ENSG00000198899 missense_variant cAc/cGc - MODERATE SNV MT-ATP6 protein_coding deleterious(0.04) probably_damaging(0.98) - 3840 m.9195C>A 9195 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9195_C/A homo ENSG00000198899 missense_variant caC/caA - MODERATE SNV MT-ATP6 protein_coding tolerated(1) probably_damaging(0.985) - 3841 m.9196G>A 9196 G A 15 0.002064410 1 0.000137627 7266 0.002202037 MT_9196_G/A homo&heter ENSG00000198899 missense_variant Gac/Aac rs374870159,COSV62294153 MODERATE SNV MT-ATP6 protein_coding tolerated(0.17) benign(0.268) - 3842 m.9202A>G 9202 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9202_A/G homo ENSG00000198899 missense_variant Aca/Gca - MODERATE SNV MT-ATP6 protein_coding deleterious_low_confidence(0) benign(0.052) - 3843 m.9204A>G 9204 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9204_A/G homo ENSG00000198899 synonymous_variant acA/acG - LOW SNV MT-ATP6 protein_coding - - - 3844 m.9205T>C 9205 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9205_T/C homo ENSG00000198899 stop_lost Taa/Caa - HIGH SNV MT-ATP6 protein_coding - - - 3845 m.9210A>G 9210 A G 13 0.001789155 1 0.000137627 7266 0.001926782 MT_9210_A/G homo&heter ENSG00000198938 missense_variant Acc/Gcc rs1556423633 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.81) benign(0) - 3846 m.9211C>T 9211 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9211_C/T homo ENSG00000198938 missense_variant aCc/aTc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) benign(0) - 3847 m.9214A>G 9214 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9214_A/G homo ENSG00000198938 missense_variant cAc/cGc rs1556423637,COSV62294368 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.04) possibly_damaging(0.769) - 3848 m.9215C>T 9215 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9215_C/T homo ENSG00000198938 synonymous_variant caC/caT rs1556423638 LOW SNV MT-CO3 protein_coding - - - 3849 m.9218A>G 9218 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9218_A/G homo ENSG00000198938 synonymous_variant caA/caG rs879185042 LOW SNV MT-CO3 protein_coding - - - 3850 m.9219T>C 9219 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9219_T/C heter ENSG00000198938 missense_variant Tca/Cca - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.02) benign(0.045) - 3851 m.9219T>G 9219 T G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9219_T/G heter ENSG00000198938 missense_variant Tca/Gca - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(1) benign(0) - 3852 m.9221A>G 9221 A G 320 0.044040738 0 0.000000000 7266 0.044040738 MT_9221_A/G homo ENSG00000198938 synonymous_variant tcA/tcG rs367578507 LOW SNV MT-CO3 protein_coding - - - 3853 m.9221A>T 9221 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9221_A/T homo ENSG00000198938 synonymous_variant tcA/tcT - LOW SNV MT-CO3 protein_coding - - - 3854 m.9224T>C 9224 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9224_T/C homo ENSG00000198938 synonymous_variant caT/caC - LOW SNV MT-CO3 protein_coding - - - 3855 m.9225G>A 9225 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9225_G/A heter ENSG00000198938 missense_variant Gcc/Acc - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.08) benign(0.315) - 3856 m.9228T>C 9228 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_9228_T/C homo&heter ENSG00000198938 missense_variant Tat/Cat - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.997) - 3857 m.9230T>C 9230 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_9230_T/C homo ENSG00000198938 synonymous_variant taT/taC rs879058558 LOW SNV MT-CO3 protein_coding - - - 3858 m.9233T>C 9233 T C 11 0.001513900 1 0.000137627 7266 0.001651528 MT_9233_T/C homo&heter ENSG00000198938 synonymous_variant caT/caC - LOW SNV MT-CO3 protein_coding - - - 3859 m.9236A>G 9236 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9236_A/G homo ENSG00000198938 synonymous_variant atA/atG - LOW SNV MT-CO3 protein_coding - - - 3860 m.9237G>A 9237 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9237_G/A heter ENSG00000198938 missense_variant Gta/Ata rs1057516064 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) benign(0.418) likely_pathogenic 3861 m.9242A>G 9242 A G 58 0.007982384 1 0.000137627 7266 0.008120011 MT_9242_A/G homo&heter ENSG00000198938 synonymous_variant aaA/aaG - LOW SNV MT-CO3 protein_coding - - - 3862 m.9243C>T 9243 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9243_C/T homo ENSG00000198938 missense_variant Ccc/Tcc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) benign(0.012) - 3863 m.9245C>T 9245 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9245_C/T homo ENSG00000198938 synonymous_variant ccC/ccT - LOW SNV MT-CO3 protein_coding - - - 3864 m.9247G>A 9247 G A 0 0.000000000 4 0.000550509 7266 0.000550509 MT_9247_G/A heter ENSG00000198938 missense_variant aGc/aAc rs1553140066,COSV62293170 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) possibly_damaging(0.891) - 3865 m.9248C>T 9248 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_9248_C/T homo ENSG00000198938 synonymous_variant agC/agT - LOW SNV MT-CO3 protein_coding - - - 3866 m.9251A>G 9251 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9251_A/G homo ENSG00000198938 synonymous_variant ccA/ccG rs28495963 LOW SNV MT-CO3 protein_coding - - - 3867 m.9254A>C 9254 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9254_A/C heter ENSG00000198938 missense_variant tgA/tgC - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 3868 m.9254A>G 9254 A G 43 0.005917974 4 0.000550509 7266 0.006468483 MT_9254_A/G homo&heter ENSG00000198938 synonymous_variant tgA/tgG rs386829072 LOW SNV MT-CO3 protein_coding - - - 3869 m.9257C>T 9257 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9257_C/T homo ENSG00000198938 synonymous_variant ccC/ccT - LOW SNV MT-CO3 protein_coding - - - 3870 m.9263A>G 9263 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9263_A/G homo ENSG00000198938 synonymous_variant acA/acG - LOW SNV MT-CO3 protein_coding - - - 3871 m.9264G>A 9264 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9264_G/A heter ENSG00000198938 stop_gained Ggg/Agg - HIGH SNV MT-CO3 protein_coding - - - 3872 m.9266G>A 9266 G A 19 0.002614919 0 0.000000000 7266 0.002614919 MT_9266_G/A homo ENSG00000198938 synonymous_variant ggG/ggA rs374335946 LOW SNV MT-CO3 protein_coding - - - 3873 m.9267G>A 9267 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_9267_G/A heter ENSG00000198938 missense_variant Gcc/Acc rs1556423650 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.988) - 3874 m.9269C>T 9269 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9269_C/T homo ENSG00000198938 synonymous_variant gcC/gcT - LOW SNV MT-CO3 protein_coding - - - 3875 m.9270C>T 9270 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9270_C/T homo ENSG00000198938 missense_variant Ctc/Ttc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.04) benign(0.007) - 3876 m.9272C>T 9272 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9272_C/T homo ENSG00000198938 synonymous_variant ctC/ctT - LOW SNV MT-CO3 protein_coding - - - 3877 m.9275A>G 9275 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9275_A/G homo ENSG00000198938 synonymous_variant tcA/tcG - LOW SNV MT-CO3 protein_coding - - - 3878 m.9276G>A 9276 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9276_G/A homo ENSG00000198938 missense_variant Gcc/Acc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) benign(0.009) - 3879 m.9278C>T 9278 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_9278_C/T homo ENSG00000198938 synonymous_variant gcC/gcT - LOW SNV MT-CO3 protein_coding - - - 3880 m.9279C>T 9279 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9279_C/T homo ENSG00000198938 missense_variant Ctc/Ttc - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.22) benign(0.013) - 3881 m.9287G>A 9287 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9287_G/A homo ENSG00000198938 synonymous_variant atG/atA COSV62293832 LOW SNV MT-CO3 protein_coding - - - 3882 m.9288A>G 9288 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_9288_A/G homo ENSG00000198938 missense_variant Acc/Gcc - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.05) probably_damaging(0.969) - 3883 m.9290C>T 9290 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9290_C/T homo ENSG00000198938 synonymous_variant acC/acT - LOW SNV MT-CO3 protein_coding - - - 3884 m.9293C>T 9293 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9293_C/T homo ENSG00000198938 synonymous_variant tcC/tcT - LOW SNV MT-CO3 protein_coding - - - 3885 m.9296C>T 9296 C T 137 0.018854941 0 0.000000000 7266 0.018854941 MT_9296_C/T homo ENSG00000198938 synonymous_variant ggC/ggT - LOW SNV MT-CO3 protein_coding - - - 3886 m.9297C>T 9297 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9297_C/T homo ENSG00000198938 synonymous_variant Cta/Tta rs879070193 LOW SNV MT-CO3 protein_coding - - - 3887 m.9299A>G 9299 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_9299_A/G homo ENSG00000198938 synonymous_variant ctA/ctG rs1556423652 LOW SNV MT-CO3 protein_coding - - - 3888 m.9300G>A 9300 G A 22 0.003027801 0 0.000000000 7266 0.003027801 MT_9300_G/A homo ENSG00000198938 missense_variant Gcc/Acc rs371745772 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.09) benign(0.001) - 3889 m.9302C>T 9302 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9302_C/T homo ENSG00000198938 synonymous_variant gcC/gcT rs878986141 LOW SNV MT-CO3 protein_coding - - - 3890 m.9303A>G 9303 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9303_A/G homo ENSG00000198938 missense_variant Atg/Gtg - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.22) benign(0) - 3891 m.9305G>A 9305 G A 7 0.000963391 1 0.000137627 7266 0.001101018 MT_9305_G/A homo&heter ENSG00000198938 synonymous_variant atG/atA - LOW SNV MT-CO3 protein_coding - - - 3892 m.9308A>G 9308 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9308_A/G heter ENSG00000198938 synonymous_variant tgA/tgG - LOW SNV MT-CO3 protein_coding - - - 3893 m.9309T>C 9309 T C 0 0.000000000 3 0.000412882 7266 0.000412882 MT_9309_T/C heter ENSG00000198938 missense_variant Ttt/Ctt - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.979) - 3894 m.9311T>C 9311 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9311_T/C heter ENSG00000198938 synonymous_variant ttT/ttC rs374617038 LOW SNV MT-CO3 protein_coding - - - 3895 m.9314C>T 9314 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9314_C/T homo ENSG00000198938 synonymous_variant caC/caT rs28434399 LOW SNV MT-CO3 protein_coding - - - 3896 m.9316T>C 9316 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_9316_T/C homo ENSG00000198938 missense_variant tTc/tCc - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.07) benign(0.351) - 3897 m.9317C>A 9317 C A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9317_C/A heter ENSG00000198938 missense_variant ttC/ttA - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.1) benign(0) - 3898 m.9318C>A 9318 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9318_C/A homo ENSG00000198938 missense_variant Cac/Aac - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(1) benign(0.219) - 3899 m.9319A>G 9319 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9319_A/G homo ENSG00000198938 missense_variant cAc/cGc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.03) benign(0.169) - 3900 m.9323C>T 9323 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9323_C/T homo ENSG00000198938 synonymous_variant tcC/tcT - LOW SNV MT-CO3 protein_coding - - - 3901 m.9325T>C 9325 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9325_T/C homo ENSG00000198938 missense_variant aTa/aCa rs879000531 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(1) benign(0) - 3902 m.9327A>G 9327 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_9327_A/G homo ENSG00000198938 missense_variant Acg/Gcg - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.26) benign(0) - 3903 m.9329G>A 9329 G A 34 0.004679328 1 0.000137627 7266 0.004816956 MT_9329_G/A homo&heter ENSG00000198938 synonymous_variant acG/acA rs386829074 LOW SNV MT-CO3 protein_coding - - - 3904 m.9331T>C 9331 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9331_T/C heter ENSG00000198938 missense_variant cTc/cCc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.02) probably_damaging(1) - 3905 m.9332C>T 9332 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9332_C/T homo ENSG00000198938 synonymous_variant ctC/ctT - LOW SNV MT-CO3 protein_coding - - - 3906 m.9335C>T 9335 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9335_C/T homo ENSG00000198938 synonymous_variant ctC/ctT - LOW SNV MT-CO3 protein_coding - - - 3907 m.9336A>G 9336 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_9336_A/G homo ENSG00000198938 missense_variant Ata/Gta rs28474779 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.55) benign(0) - 3908 m.9337T>C 9337 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9337_T/C homo ENSG00000198938 missense_variant aTa/aCa - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(1) benign(0) - 3909 m.9338A>G 9338 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9338_A/G homo ENSG00000198938 synonymous_variant atA/atG rs386829075 LOW SNV MT-CO3 protein_coding - - - 3910 m.9338A>T 9338 A T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_9338_A/T homo ENSG00000198938 missense_variant atA/atT - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.61) benign(0.001) - 3911 m.9342G>A 9342 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9342_G/A homo ENSG00000198938 missense_variant Ggc/Agc rs28672157 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.04) benign(0.024) - 3912 m.9343G>A 9343 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_9343_G/A heter ENSG00000198938 missense_variant gGc/gAc COSV62293839 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) possibly_damaging(0.537) - 3913 m.9344C>T 9344 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9344_C/T homo ENSG00000198938 synonymous_variant ggC/ggT COSV62294168 LOW SNV MT-CO3 protein_coding - - - 3914 m.9347A>G 9347 A G 54 0.007431874 0 0.000000000 7266 0.007431874 MT_9347_A/G homo ENSG00000198938 synonymous_variant ctA/ctG rs2853824 LOW SNV MT-CO3 protein_coding - - - 3915 m.9348C>T 9348 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9348_C/T homo ENSG00000198938 synonymous_variant Cta/Tta - LOW SNV MT-CO3 protein_coding - - - 3916 m.9350A>G 9350 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9350_A/G homo ENSG00000198938 synonymous_variant ctA/ctG - LOW SNV MT-CO3 protein_coding - - - 3917 m.9351A>G 9351 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9351_A/G homo ENSG00000198938 missense_variant Acc/Gcc - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.13) probably_damaging(0.943) - 3918 m.9355A>G 9355 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_9355_A/G homo ENSG00000198938 missense_variant aAc/aGc - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.06) benign(0.001) - 3919 m.9356C>T 9356 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9356_C/T homo ENSG00000198938 synonymous_variant aaC/aaT - LOW SNV MT-CO3 protein_coding - - - 3920 m.9358C>T 9358 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9358_C/T homo ENSG00000198938 missense_variant aCa/aTa - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.19) benign(0.003) - 3921 m.9359A>G 9359 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9359_A/G homo ENSG00000198938 synonymous_variant acA/acG - LOW SNV MT-CO3 protein_coding - - - 3922 m.9360C>T 9360 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9360_C/T homo ENSG00000198938 synonymous_variant Cta/Tta - LOW SNV MT-CO3 protein_coding - - - 3923 m.9361T>C 9361 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9361_T/C heter ENSG00000198938 missense_variant cTa/cCa - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.919) - 3924 m.9362A>G 9362 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9362_A/G homo ENSG00000198938 synonymous_variant ctA/ctG rs878998875 LOW SNV MT-CO3 protein_coding - - - 3925 m.9365C>T 9365 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9365_C/T homo ENSG00000198938 synonymous_variant acC/acT rs1556423665 LOW SNV MT-CO3 protein_coding - - - 3926 m.9366A>T 9366 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9366_A/T homo ENSG00000198938 missense_variant Ata/Tta - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.04) benign(0) - 3927 m.9368A>G 9368 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_9368_A/G homo ENSG00000198938 synonymous_variant atA/atG rs386829076 LOW SNV MT-CO3 protein_coding - - likely_benign 3928 m.9369T>C 9369 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_9369_T/C heter ENSG00000198938 missense_variant Tac/Cac - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.04) benign(0.001) - 3929 m.9371C>T 9371 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9371_C/T homo ENSG00000198938 synonymous_variant taC/taT rs879065290 LOW SNV MT-CO3 protein_coding - - - 3930 m.9374A>G 9374 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_9374_A/G homo ENSG00000198938 synonymous_variant caA/caG rs386829077 LOW SNV MT-CO3 protein_coding - - - 3931 m.9377A>G 9377 A G 136 0.018717314 1 0.000137627 7266 0.018854941 MT_9377_A/G homo&heter ENSG00000198938 synonymous_variant tgA/tgG rs28380140,COSV62293526 LOW SNV MT-CO3 protein_coding - - - 3932 m.9380G>A 9380 G A 37 0.005092210 1 0.000137627 7266 0.005229838 MT_9380_G/A homo&heter ENSG00000198938 synonymous_variant tgG/tgA rs878923250 LOW SNV MT-CO3 protein_coding - - - 3933 m.9381C>T 9381 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9381_C/T heter ENSG00000198938 missense_variant Cgc/Tgc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 3934 m.9383C>T 9383 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9383_C/T homo ENSG00000198938 synonymous_variant cgC/cgT - LOW SNV MT-CO3 protein_coding - - - 3935 m.9386T>C 9386 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_9386_T/C homo&heter ENSG00000198938 synonymous_variant gaT/gaC - LOW SNV MT-CO3 protein_coding - - - 3936 m.9389A>G 9389 A G 16 0.002202037 0 0.000000000 7266 0.002202037 MT_9389_A/G homo ENSG00000198938 synonymous_variant gtA/gtG rs28462217 LOW SNV MT-CO3 protein_coding - - - 3937 m.9391C>T 9391 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9391_C/T homo ENSG00000198938 missense_variant aCa/aTa rs1556423673 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.02) benign(0.001) - 3938 m.9392A>G 9392 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9392_A/G homo ENSG00000198938 synonymous_variant acA/acG - LOW SNV MT-CO3 protein_coding - - - 3939 m.9398A>G 9398 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9398_A/G heter ENSG00000198938 synonymous_variant gaA/gaG - LOW SNV MT-CO3 protein_coding - - - 3940 m.9400G>A 9400 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9400_G/A heter ENSG00000198938 missense_variant aGc/aAc COSV62293237 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) benign(0.045) - 3941 m.9404A>G 9404 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9404_A/G homo ENSG00000198938 synonymous_variant acA/acG - LOW SNV MT-CO3 protein_coding - - - 3942 m.9405T>C 9405 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9405_T/C heter ENSG00000198938 missense_variant Tac/Cac - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.995) - 3943 m.9407C>T 9407 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9407_C/T homo ENSG00000198938 synonymous_variant taC/taT - LOW SNV MT-CO3 protein_coding - - - 3944 m.9410A>G 9410 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9410_A/G homo ENSG00000198938 synonymous_variant caA/caG - LOW SNV MT-CO3 protein_coding - - - 3945 m.9411G>A 9411 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9411_G/A heter ENSG00000198938 missense_variant Ggc/Agc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 3946 m.9419C>T 9419 C T 2 0.000275255 1 0.000137627 7266 0.000412882 MT_9419_C/T homo&heter ENSG00000198938 synonymous_variant caC/caT - LOW SNV MT-CO3 protein_coding - - - 3947 m.9424C>T 9424 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_9424_C/T homo&heter ENSG00000198938 missense_variant cCa/cTa - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.23) benign(0) - 3948 m.9425A>C 9425 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9425_A/C homo ENSG00000198938 synonymous_variant ccA/ccC - LOW SNV MT-CO3 protein_coding - - - 3949 m.9425A>G 9425 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_9425_A/G homo&heter ENSG00000198938 synonymous_variant ccA/ccG rs878987753 LOW SNV MT-CO3 protein_coding - - - 3950 m.9428T>C 9428 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9428_T/C homo ENSG00000198938 synonymous_variant ccT/ccC rs1556423674 LOW SNV MT-CO3 protein_coding - - - 3951 m.9431C>T 9431 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_9431_C/T homo ENSG00000198938 synonymous_variant gtC/gtT - LOW SNV MT-CO3 protein_coding - - - 3952 m.9436A>G 9436 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9436_A/G heter ENSG00000198938 stop_gained aAa/aGa - HIGH SNV MT-CO3 protein_coding - - - 3953 m.9438G>A 9438 G A 17 0.002339664 1 0.000137627 7266 0.002477291 MT_9438_G/A homo&heter ENSG00000198938 missense_variant Ggc/Agc rs267606611 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.04) benign(0.033) benign,pathogenic 3954 m.9440C>T 9440 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9440_C/T homo ENSG00000198938 synonymous_variant ggC/ggT - LOW SNV MT-CO3 protein_coding - - - 3955 m.9445G>A 9445 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9445_G/A heter ENSG00000198938 missense_variant cGa/cAa COSV62293703 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.951) - 3956 m.9447T>C 9447 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9447_T/C heter ENSG00000198938 missense_variant Tac/Cac - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.994) - 3957 m.9448A>G 9448 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9448_A/G homo ENSG00000198938 missense_variant tAc/tGc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.997) - 3958 m.9449C>T 9449 C T 119 0.016377649 1 0.000137627 7266 0.016515277 MT_9449_C/T homo&heter ENSG00000198938 synonymous_variant taC/taT rs28358272 LOW SNV MT-CO3 protein_coding - - - 3959 m.9450G>A 9450 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9450_G/A heter ENSG00000198938 stop_gained Ggg/Agg - HIGH SNV MT-CO3 protein_coding - - - 3960 m.9452G>A 9452 G A 20 0.002752546 1 0.000137627 7266 0.002890173 MT_9452_G/A homo&heter ENSG00000198938 synonymous_variant ggG/ggA rs386829079 LOW SNV MT-CO3 protein_coding - - - 3961 m.9455A>G 9455 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9455_A/G homo ENSG00000198938 synonymous_variant atA/atG - LOW SNV MT-CO3 protein_coding - - - 3962 m.9456A>G 9456 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_9456_A/G homo&heter ENSG00000198938 missense_variant Atc/Gtc - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.19) benign(0) - 3963 m.9458C>T 9458 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9458_C/T homo ENSG00000198938 synonymous_variant atC/atT rs1556423676 LOW SNV MT-CO3 protein_coding - - - 3964 m.9459C>T 9459 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9459_C/T homo ENSG00000198938 synonymous_variant Cta/Tta rs879176711 LOW SNV MT-CO3 protein_coding - - - 3965 m.9461A>G 9461 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9461_A/G homo ENSG00000198938 synonymous_variant ctA/ctG rs386829080 LOW SNV MT-CO3 protein_coding - - - 3966 m.9464T>C 9464 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9464_T/C homo ENSG00000198938 synonymous_variant ttT/ttC - LOW SNV MT-CO3 protein_coding - - - 3967 m.9467T>C 9467 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9467_T/C homo ENSG00000198938 synonymous_variant atT/atC rs878853040 LOW SNV MT-CO3 protein_coding - - likely_benign 3968 m.9468A>G 9468 A G 14 0.001926782 0 0.000000000 7266 0.001926782 MT_9468_A/G homo ENSG00000198938 missense_variant Acc/Gcc rs879015841 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.09) benign(0.018) - 3969 m.9469C>T 9469 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9469_C/T homo ENSG00000198938 missense_variant aCc/aTc - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.35) benign(0) - 3970 m.9473A>C 9473 A C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9473_A/C homo ENSG00000198938 synonymous_variant tcA/tcC - LOW SNV MT-CO3 protein_coding - - - 3971 m.9477G>A 9477 G A 121 0.016652904 1 0.000137627 7266 0.016790531 MT_9477_G/A homo&heter ENSG00000198938 missense_variant Gtt/Att rs2853825 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.12) benign(0) - 3972 m.9477G>GT 9477 G GT 0 0.000000000 3 0.000412882 7266 0.000412882 MT_9478_-/T heter ENSG00000198938 frameshift_variant gtt/gTtt - HIGH insertion MT-CO3 protein_coding - - - 3973 m.9478T>C 9478 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9478_T/C homo ENSG00000198938 missense_variant gTt/gCt rs587776437 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.04) benign(0.003) pathogenic 3974 m.9479T>C 9479 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_9479_T/C homo&heter ENSG00000198938 synonymous_variant gtT/gtC rs372117451 LOW SNV MT-CO3 protein_coding - - - 3975 m.9482T>C 9482 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9482_T/C homo ENSG00000198938 synonymous_variant ttT/ttC - LOW SNV MT-CO3 protein_coding - - - 3976 m.9487T>C 9487 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9487_T/C heter ENSG00000198938 missense_variant tTc/tCc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 3977 m.9488C>T 9488 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9488_C/T homo ENSG00000198938 synonymous_variant ttC/ttT - LOW SNV MT-CO3 protein_coding - - - 3978 m.9489G>A 9489 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9489_G/A homo ENSG00000198938 missense_variant Gca/Aca - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.15) benign(0.003) - 3979 m.9490C>T 9490 C T 13 0.001789155 0 0.000000000 7266 0.001789155 MT_9490_C/T homo ENSG00000198938 missense_variant gCa/gTa - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.12) benign(0.003) - 3980 m.9491A>G 9491 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9491_A/G homo ENSG00000198938 synonymous_variant gcA/gcG - LOW SNV MT-CO3 protein_coding - - - 3981 m.9494A>G 9494 A G 16 0.002202037 2 0.000275255 7266 0.002477291 MT_9494_A/G homo&heter ENSG00000198938 synonymous_variant ggA/ggG rs1556423680 LOW SNV MT-CO3 protein_coding - - - 3982 m.9495T>C 9495 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9495_T/C homo ENSG00000198938 missense_variant Ttt/Ctt rs1556423681 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.979) - 3983 m.9497T>C 9497 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_9497_T/C homo ENSG00000198938 synonymous_variant ttT/ttC - LOW SNV MT-CO3 protein_coding - - - 3984 m.9503A>G 9503 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9503_A/G homo ENSG00000198938 synonymous_variant tgA/tgG - LOW SNV MT-CO3 protein_coding - - - 3985 m.9506C>T 9506 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9506_C/T homo ENSG00000198938 synonymous_variant gcC/gcT - LOW SNV MT-CO3 protein_coding - - - 3986 m.9509T>C 9509 T C 22 0.003027801 1 0.000137627 7266 0.003165428 MT_9509_T/C homo&heter ENSG00000198938 synonymous_variant ttT/ttC rs375478739 LOW SNV MT-CO3 protein_coding - - uncertain_significance 3987 m.9512C>T 9512 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9512_C/T homo ENSG00000198938 synonymous_variant taC/taT rs369378955 LOW SNV MT-CO3 protein_coding - - - 3988 m.9516T>C 9516 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9516_T/C heter ENSG00000198938 missense_variant Tcc/Ccc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.99) - 3989 m.9518C>T 9518 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9518_C/T homo ENSG00000198938 synonymous_variant tcC/tcT - LOW SNV MT-CO3 protein_coding - - - 3990 m.9520G>A 9520 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9520_G/A heter ENSG00000198938 missense_variant aGc/aAc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.94) - 3991 m.9524A>G 9524 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_9524_A/G homo&heter ENSG00000198938 synonymous_variant ctA/ctG - LOW SNV MT-CO3 protein_coding - - - 3992 m.9525G>A 9525 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_9525_G/A homo&heter ENSG00000198938 missense_variant Gcc/Acc rs878977410,COSV62294280 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.03) probably_damaging(0.976) - 3993 m.9527C>T 9527 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9527_C/T homo ENSG00000198938 synonymous_variant gcC/gcT - LOW SNV MT-CO3 protein_coding - - - 3994 m.9530T>C 9530 T C 11 0.001513900 0 0.000000000 7266 0.001513900 MT_9530_T/C homo ENSG00000198938 synonymous_variant ccT/ccC rs879237361 LOW SNV MT-CO3 protein_coding - - - 3995 m.9531A>AC 9531 A AC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9532_-/C heter ENSG00000198938 frameshift_variant acc/aCcc - HIGH insertion MT-CO3 protein_coding - - - 3996 m.9531A>G 9531 A G 19 0.002614919 1 0.000137627 7266 0.002752546 MT_9531_A/G homo&heter ENSG00000198938 missense_variant Acc/Gcc rs386829082 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.03) probably_damaging(0.947) - 3997 m.9532C>T 9532 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9532_C/T heter ENSG00000198938 missense_variant aCc/aTc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.996) - 3998 m.9533C>T 9533 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9533_C/T homo ENSG00000198938 synonymous_variant acC/acT - LOW SNV MT-CO3 protein_coding - - - 3999 m.9536C>A 9536 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9536_C/A homo ENSG00000198938 synonymous_variant ccC/ccA - LOW SNV MT-CO3 protein_coding - - - 4000 m.9536C>T 9536 C T 79 0.010872557 0 0.000000000 7266 0.010872557 MT_9536_C/T homo ENSG00000198938 synonymous_variant ccC/ccT - LOW SNV MT-CO3 protein_coding - - - 4001 m.9539A>G 9539 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9539_A/G homo ENSG00000198938 synonymous_variant caA/caG - LOW SNV MT-CO3 protein_coding - - - 4002 m.9540T>C 9540 T C 3772 0.519130195 0 0.000000000 7266 0.519130195 MT_9540_T/C homo ENSG00000198938 synonymous_variant Tta/Cta rs2248727 LOW SNV MT-CO3 protein_coding - - - 4003 m.9541T>C 9541 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9541_T/C homo ENSG00000198938 missense_variant tTa/tCa rs879143185 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 4004 m.9545A>G 9545 A G 265 0.036471236 0 0.000000000 7266 0.036471236 MT_9545_A/G homo ENSG00000198938 synonymous_variant ggA/ggG rs878853022,COSV62294548 LOW SNV MT-CO3 protein_coding - - benign 4005 m.9547G>A 9547 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9547_G/A heter ENSG00000198938 missense_variant gGg/gAg - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.26) probably_damaging(0.954) - 4006 m.9548G>A 9548 G A 231 0.031791908 0 0.000000000 7266 0.031791908 MT_9548_G/A homo ENSG00000198938 synonymous_variant ggG/ggA rs386829084 LOW SNV MT-CO3 protein_coding - - - 4007 m.9549C>T 9549 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9549_C/T homo ENSG00000198938 missense_variant Cac/Tac - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.27) probably_damaging(0.955) - 4008 m.9554G>A 9554 G A 58 0.007982384 2 0.000275255 7266 0.008257638 MT_9554_G/A homo&heter ENSG00000198938 synonymous_variant tgG/tgA rs193303052,COSV62293119 LOW SNV MT-CO3 protein_coding - - - 4009 m.9557C>T 9557 C T 21 0.002890173 0 0.000000000 7266 0.002890173 MT_9557_C/T homo ENSG00000198938 synonymous_variant ccC/ccT - LOW SNV MT-CO3 protein_coding - - - 4010 m.9560A>G 9560 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9560_A/G homo ENSG00000198938 synonymous_variant ccA/ccG rs372967382 LOW SNV MT-CO3 protein_coding - - - 4011 m.9564G>A 9564 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9564_G/A heter ENSG00000198938 missense_variant Ggc/Agc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.996) - 4012 m.9566C>T 9566 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9566_C/T homo ENSG00000198938 synonymous_variant ggC/ggT - LOW SNV MT-CO3 protein_coding - - - 4013 m.9575G>A 9575 G A 139 0.019130195 1 0.000137627 7266 0.019267823 MT_9575_G/A homo&heter ENSG00000198938 synonymous_variant ccG/ccA rs372078920,COSV62293952 LOW SNV MT-CO3 protein_coding - - - 4014 m.9575G>T 9575 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9575_G/T homo ENSG00000198938 synonymous_variant ccG/ccT COSV62293952 LOW SNV MT-CO3 protein_coding - - - 4015 m.9578A>G 9578 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9578_A/G homo ENSG00000198938 synonymous_variant ctA/ctG - LOW SNV MT-CO3 protein_coding - - - 4016 m.9580A>G 9580 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9580_A/G homo ENSG00000198938 missense_variant aAt/aGt - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.03) benign(0.021) - 4017 m.9581T>C 9581 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9581_T/C homo ENSG00000198938 synonymous_variant aaT/aaC COSV62293770 LOW SNV MT-CO3 protein_coding - - - 4018 m.9589A>G 9589 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9589_A/G heter ENSG00000198938 missense_variant gAa/gGa - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.06) probably_damaging(0.987) - 4019 m.9590A>G 9590 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9590_A/G homo ENSG00000198938 synonymous_variant gaA/gaG - LOW SNV MT-CO3 protein_coding - - - 4020 m.9591G>A 9591 G A 10 0.001376273 0 0.000000000 7266 0.001376273 MT_9591_G/A homo ENSG00000198938 missense_variant Gtc/Atc rs878949273 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.14) possibly_damaging(0.873) - 4021 m.9593C>T 9593 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9593_C/T homo ENSG00000198938 synonymous_variant gtC/gtT - LOW SNV MT-CO3 protein_coding - - - 4022 m.9596A>G 9596 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9596_A/G homo ENSG00000198938 synonymous_variant ccA/ccG - LOW SNV MT-CO3 protein_coding - - - 4023 m.9596A>T 9596 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9596_A/T homo ENSG00000198938 synonymous_variant ccA/ccT - LOW SNV MT-CO3 protein_coding - - - 4024 m.9598T>C 9598 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9598_T/C heter ENSG00000198938 missense_variant cTc/cCc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.996) - 4025 m.9599C>T 9599 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9599_C/T homo ENSG00000198938 synonymous_variant ctC/ctT - LOW SNV MT-CO3 protein_coding - - - 4026 m.9602A>G 9602 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9602_A/G homo ENSG00000198938 synonymous_variant ctA/ctG - LOW SNV MT-CO3 protein_coding - - - 4027 m.9604A>G 9604 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9604_A/G homo ENSG00000198938 missense_variant aAc/aGc rs1556423697 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.943) - 4028 m.9605C>T 9605 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9605_C/T homo ENSG00000198938 synonymous_variant aaC/aaT rs1569484310 LOW SNV MT-CO3 protein_coding - - - 4029 m.9608A>G 9608 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9608_A/G homo ENSG00000198938 synonymous_variant acA/acG rs386829087 LOW SNV MT-CO3 protein_coding - - - 4030 m.9609T>C 9609 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9609_T/C heter ENSG00000198938 missense_variant Tcc/Ccc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) benign(0.359) - 4031 m.9610C>A 9610 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9610_C/A homo ENSG00000198938 missense_variant tCc/tAc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) possibly_damaging(0.828) - 4032 m.9611C>T 9611 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9611_C/T homo ENSG00000198938 synonymous_variant tcC/tcT - LOW SNV MT-CO3 protein_coding - - - 4033 m.9612G>A 9612 G A 7 0.000963391 2 0.000275255 7266 0.001238646 MT_9612_G/A homo&heter ENSG00000198938 missense_variant Gta/Ata - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.994) - 4034 m.9612G>C 9612 G C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9612_G/C homo ENSG00000198938 missense_variant Gta/Cta - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) possibly_damaging(0.863) - 4035 m.9614A>G 9614 A G 20 0.002752546 0 0.000000000 7266 0.002752546 MT_9614_A/G homo ENSG00000198938 synonymous_variant gtA/gtG - LOW SNV MT-CO3 protein_coding - - - 4036 m.9615T>C 9615 T C 22 0.003027801 0 0.000000000 7266 0.003027801 MT_9615_T/C homo ENSG00000198938 synonymous_variant Tta/Cta rs1556423699 LOW SNV MT-CO3 protein_coding - - - 4037 m.9620C>A 9620 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9620_C/A homo ENSG00000198938 synonymous_variant ctC/ctA - LOW SNV MT-CO3 protein_coding - - - 4038 m.9620C>T 9620 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9620_C/T homo ENSG00000198938 synonymous_variant ctC/ctT rs1556423700 LOW SNV MT-CO3 protein_coding - - - 4039 m.9624T>C 9624 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9624_T/C heter ENSG00000198938 missense_variant Tca/Cca - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.981) - 4040 m.9626A>C 9626 A C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9626_A/C homo ENSG00000198938 synonymous_variant tcA/tcC - LOW SNV MT-CO3 protein_coding - - - 4041 m.9629A>G 9629 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_9629_A/G homo&heter ENSG00000198938 synonymous_variant ggA/ggG - LOW SNV MT-CO3 protein_coding - - - 4042 m.9630G>A 9630 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_9630_G/A homo&heter ENSG00000198938 missense_variant Gta/Ata COSV62293188 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) possibly_damaging(0.548) - 4043 m.9631T>C 9631 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9631_T/C homo ENSG00000198938 missense_variant gTa/gCa - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.07) benign(0.266) - 4044 m.9632A>C 9632 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9632_A/C homo ENSG00000198938 synonymous_variant gtA/gtC - LOW SNV MT-CO3 protein_coding - - - 4045 m.9632A>G 9632 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_9632_A/G homo ENSG00000198938 synonymous_variant gtA/gtG rs1556423704 LOW SNV MT-CO3 protein_coding - - - 4046 m.9638C>T 9638 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9638_C/T heter ENSG00000198938 synonymous_variant atC/atT - LOW SNV MT-CO3 protein_coding - - - 4047 m.9641C>T 9641 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_9641_C/T homo ENSG00000198938 synonymous_variant acC/acT - LOW SNV MT-CO3 protein_coding - - - 4048 m.9642T>C 9642 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9642_T/C heter ENSG00000198938 missense_variant Tga/Cga - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.997) - 4049 m.9644A>G 9644 A G 5 0.000688137 1 0.000137627 7266 0.000825764 MT_9644_A/G homo&heter ENSG00000198938 synonymous_variant tgA/tgG - LOW SNV MT-CO3 protein_coding - - - 4050 m.9645G>A 9645 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9645_G/A heter ENSG00000198938 missense_variant Gct/Act - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.07) probably_damaging(0.988) - 4051 m.9647T>C 9647 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_9647_T/C homo ENSG00000198938 synonymous_variant gcT/gcC rs28575684 LOW SNV MT-CO3 protein_coding - - - 4052 m.9650C>T 9650 C T 13 0.001789155 0 0.000000000 7266 0.001789155 MT_9650_C/T homo ENSG00000198938 synonymous_variant caC/caT rs377735161 LOW SNV MT-CO3 protein_coding - - - 4053 m.9651C>T 9651 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9651_C/T homo ENSG00000198938 missense_variant Cat/Tat - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) benign(0.001) - 4054 m.9652A>C 9652 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9652_A/C heter ENSG00000198938 missense_variant cAt/cCt - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) possibly_damaging(0.655) - 4055 m.9653T>C 9653 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_9653_T/C homo ENSG00000198938 synonymous_variant caT/caC - LOW SNV MT-CO3 protein_coding - - - 4056 m.9654A>C 9654 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9654_A/C heter ENSG00000198938 missense_variant Agt/Cgt - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 4057 m.9655G>A 9655 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_9655_G/A homo&heter ENSG00000198938 missense_variant aGt/aAt - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) possibly_damaging(0.891) - 4058 m.9656T>C 9656 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_9656_T/C homo&heter ENSG00000198938 synonymous_variant agT/agC rs1556423706 LOW SNV MT-CO3 protein_coding - - - 4059 m.9657C>T 9657 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9657_C/T homo ENSG00000198938 synonymous_variant Cta/Tta - LOW SNV MT-CO3 protein_coding - - - 4060 m.9659A>G 9659 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9659_A/G homo ENSG00000198938 synonymous_variant ctA/ctG - LOW SNV MT-CO3 protein_coding - - - 4061 m.9661T>C 9661 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9661_T/C homo ENSG00000198938 missense_variant aTa/aCa - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.06) possibly_damaging(0.894) - 4062 m.9662A>G 9662 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9662_A/G homo ENSG00000198938 synonymous_variant atA/atG - LOW SNV MT-CO3 protein_coding - - - 4063 m.9666A>G 9666 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9666_A/G heter ENSG00000198938 missense_variant Aac/Gac - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) benign(0.22) - 4064 m.9667A>G 9667 A G 17 0.002339664 1 0.000137627 7266 0.002477291 MT_9667_A/G homo&heter ENSG00000198938 missense_variant aAc/aGc rs41482146 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.08) benign(0.127) - 4065 m.9668C>T 9668 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9668_C/T homo ENSG00000198938 synonymous_variant aaC/aaT - LOW SNV MT-CO3 protein_coding - - - 4066 m.9670A>G 9670 A G 6 0.000825764 1 0.000137627 7266 0.000963391 MT_9670_A/G homo&heter ENSG00000198938 missense_variant aAc/aGc rs1556423709 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.1) benign(0.005) - 4067 m.9680A>G 9680 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9680_A/G homo ENSG00000198938 synonymous_variant caA/caG - LOW SNV MT-CO3 protein_coding - - - 4068 m.9682T>C 9682 T C 49 0.006743738 0 0.000000000 7266 0.006743738 MT_9682_T/C homo ENSG00000198938 missense_variant aTa/aCa rs199750417 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.28) benign(0.001) - 4069 m.9685T>C 9685 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9685_T/C homo ENSG00000198938 missense_variant aTt/aCt rs1556423710 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.32) benign(0) - 4070 m.9690G>A 9690 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9690_G/A heter ENSG00000198938 missense_variant Gca/Aca - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.04) probably_damaging(0.988) - 4071 m.9692A>G 9692 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9692_A/G homo ENSG00000198938 synonymous_variant gcA/gcG - LOW SNV MT-CO3 protein_coding - - - 4072 m.9695G>A 9695 G A 6 0.000825764 0 0.000000000 7266 0.000825764 MT_9695_G/A homo ENSG00000198938 synonymous_variant ctG/ctA - LOW SNV MT-CO3 protein_coding - - - 4073 m.9696C>T 9696 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9696_C/T homo ENSG00000198938 missense_variant Ctt/Ttt - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.84) benign(0.003) - 4074 m.9698T>C 9698 T C 48 0.006606111 0 0.000000000 7266 0.006606111 MT_9698_T/C homo ENSG00000198938 synonymous_variant ctT/ctC rs9743 LOW SNV MT-CO3 protein_coding - - - 4075 m.9701T>C 9701 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_9701_T/C homo ENSG00000198938 synonymous_variant atT/atC rs1556423711 LOW SNV MT-CO3 protein_coding - - - 4076 m.9704A>G 9704 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9704_A/G homo ENSG00000198938 synonymous_variant acA/acG - LOW SNV MT-CO3 protein_coding - - - 4077 m.9707T>C 9707 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_9707_T/C homo&heter ENSG00000198938 synonymous_variant atT/atC COSV62294172 LOW SNV MT-CO3 protein_coding - - - 4078 m.9708T>C 9708 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_9708_T/C homo ENSG00000198938 synonymous_variant Tta/Cta - LOW SNV MT-CO3 protein_coding - - - 4079 m.9711C>T 9711 C T 3 0.000412882 1 0.000137627 7266 0.000550509 MT_9711_C/T homo&heter ENSG00000198938 synonymous_variant Ctg/Ttg - LOW SNV MT-CO3 protein_coding - - - 4080 m.9713G>A 9713 G A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_9713_G/A homo ENSG00000198938 synonymous_variant ctG/ctA rs879022155 LOW SNV MT-CO3 protein_coding - - - 4081 m.9716T>A 9716 T A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9716_T/A homo ENSG00000198938 synonymous_variant ggT/ggA - LOW SNV MT-CO3 protein_coding - - - 4082 m.9716T>C 9716 T C 17 0.002339664 1 0.000137627 7266 0.002477291 MT_9716_T/C homo&heter ENSG00000198938 synonymous_variant ggT/ggC rs41502750 LOW SNV MT-CO3 protein_coding - - - 4083 m.9717C>T 9717 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9717_C/T homo ENSG00000198938 missense_variant Ctc/Ttc - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.51) benign(0.055) - 4084 m.9720T>C 9720 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9720_T/C heter ENSG00000198938 missense_variant Tat/Cat - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.994) - 4085 m.9721AT>A 9721 AT A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9722_T/- heter ENSG00000198938 frameshift_variant taT/ta - HIGH deletion MT-CO3 protein_coding - - - 4086 m.9722T>C 9722 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_9722_T/C homo ENSG00000198938 synonymous_variant taT/taC - LOW SNV MT-CO3 protein_coding - - - 4087 m.9725T>C 9725 T C 17 0.002339664 0 0.000000000 7266 0.002339664 MT_9725_T/C homo ENSG00000198938 synonymous_variant ttT/ttC - LOW SNV MT-CO3 protein_coding - - - 4088 m.9728C>T 9728 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9728_C/T homo ENSG00000198938 synonymous_variant acC/acT - LOW SNV MT-CO3 protein_coding - - - 4089 m.9729C>T 9729 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9729_C/T homo ENSG00000198938 missense_variant Ctc/Ttc - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.49) probably_damaging(0.987) - 4090 m.9732C>T 9732 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_9732_C/T homo ENSG00000198938 synonymous_variant Cta/Tta - LOW SNV MT-CO3 protein_coding - - - 4091 m.9737A>G 9737 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9737_A/G homo ENSG00000198938 synonymous_variant caA/caG - LOW SNV MT-CO3 protein_coding - - - 4092 m.9738G>A 9738 G A 9 0.001238646 0 0.000000000 7266 0.001238646 MT_9738_G/A homo ENSG00000198938 missense_variant Gcc/Acc rs1556423714 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.03) benign(0.026) - 4093 m.9739C>T 9739 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9739_C/T homo ENSG00000198938 missense_variant gCc/gTc rs879159866 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.04) benign(0.001) - 4094 m.9740C>T 9740 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9740_C/T homo ENSG00000198938 synonymous_variant gcC/gcT - LOW SNV MT-CO3 protein_coding - - - 4095 m.9743A>G 9743 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9743_A/G homo ENSG00000198938 synonymous_variant tcA/tcG - LOW SNV MT-CO3 protein_coding - - - 4096 m.9746G>A 9746 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9746_G/A homo ENSG00000198938 synonymous_variant gaG/gaA - LOW SNV MT-CO3 protein_coding - - - 4097 m.9749C>T 9749 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9749_C/T homo ENSG00000198938 synonymous_variant taC/taT - LOW SNV MT-CO3 protein_coding - - - 4098 m.9750T>C 9750 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9750_T/C homo ENSG00000198938 missense_variant Ttc/Ctc rs1556423717 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.12) benign(0.007) - 4099 m.9751T>C 9751 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9751_T/C homo ENSG00000198938 missense_variant tTc/tCc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.02) benign(0.108) - 4100 m.9752C>A 9752 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9752_C/A homo ENSG00000198938 missense_variant ttC/ttA - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.12) benign(0.007) - 4101 m.9752C>T 9752 C T 2 0.000275255 1 0.000137627 7266 0.000412882 MT_9752_C/T homo&heter ENSG00000198938 synonymous_variant ttC/ttT rs1569484321 LOW SNV MT-CO3 protein_coding - - - 4102 m.9753G>A 9753 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9753_G/A heter ENSG00000198938 missense_variant Gag/Aag - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.972) - 4103 m.9753G>C 9753 G C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_9753_G/C homo ENSG00000198938 missense_variant Gag/Cag rs1569484322 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.972) - 4104 m.9755G>A 9755 G A 64 0.008808148 1 0.000137627 7266 0.008945775 MT_9755_G/A homo&heter ENSG00000198938 synonymous_variant gaG/gaA rs2856985 LOW SNV MT-CO3 protein_coding - - - 4105 m.9755G>C 9755 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9755_G/C homo ENSG00000198938 missense_variant gaG/gaC - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.03) possibly_damaging(0.891) - 4106 m.9757C>T 9757 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9757_C/T heter ENSG00000198938 missense_variant tCt/tTt - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) benign(0.279) - 4107 m.9758T>A 9758 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9758_T/A homo ENSG00000198938 synonymous_variant tcT/tcA - LOW SNV MT-CO3 protein_coding - - - 4108 m.9758T>C 9758 T C 45 0.006193229 0 0.000000000 7266 0.006193229 MT_9758_T/C homo ENSG00000198938 synonymous_variant tcT/tcC rs879028351 LOW SNV MT-CO3 protein_coding - - - 4109 m.9761C>T 9761 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9761_C/T homo ENSG00000198938 synonymous_variant ccC/ccT - LOW SNV MT-CO3 protein_coding - - - 4110 m.9762T>C 9762 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_9762_T/C heter ENSG00000198938 missense_variant Ttc/Ctc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.979) - 4111 m.9764C>T 9764 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_9764_C/T homo ENSG00000198938 synonymous_variant ttC/ttT - LOW SNV MT-CO3 protein_coding - - - 4112 m.9767C>T 9767 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_9767_C/T homo ENSG00000198938 synonymous_variant acC/acT rs878997661 LOW SNV MT-CO3 protein_coding - - - 4113 m.9770T>C 9770 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9770_T/C homo ENSG00000198938 synonymous_variant atT/atC rs879084127 LOW SNV MT-CO3 protein_coding - - - 4114 m.9771T>C 9771 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9771_T/C heter ENSG00000198938 missense_variant Tcc/Ccc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.981) - 4115 m.9773C>T 9773 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_9773_C/T homo ENSG00000198938 synonymous_variant tcC/tcT - LOW SNV MT-CO3 protein_coding - - - 4116 m.9777G>A 9777 G A 1 0.000137627 2 0.000275255 7266 0.000412882 MT_9777_G/A homo&heter ENSG00000198938 missense_variant Ggc/Agc rs1556423722 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.36) probably_damaging(0.999) - 4117 m.9780A>G 9780 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9780_A/G homo ENSG00000198938 missense_variant Atc/Gtc - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(1) possibly_damaging(0.839) - 4118 m.9785C>T 9785 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9785_C/T homo ENSG00000198938 synonymous_variant taC/taT rs879214025 LOW SNV MT-CO3 protein_coding - - - 4119 m.9786G>A 9786 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9786_G/A heter ENSG00000198938 missense_variant Ggc/Agc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.998) - 4120 m.9787G>A 9787 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9787_G/A heter ENSG00000198938 missense_variant gGc/gAc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 4121 m.9791A>G 9791 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9791_A/G homo ENSG00000198938 synonymous_variant tcA/tcG - LOW SNV MT-CO3 protein_coding - - - 4122 m.9794A>G 9794 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9794_A/G homo ENSG00000198938 synonymous_variant acA/acG - LOW SNV MT-CO3 protein_coding - - - 4123 m.9797T>C 9797 T C 11 0.001513900 2 0.000275255 7266 0.001789155 MT_9797_T/C homo&heter ENSG00000198938 synonymous_variant ttT/ttC - LOW SNV MT-CO3 protein_coding - - - 4124 m.9800T>C 9800 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9800_T/C homo ENSG00000198938 synonymous_variant ttT/ttC rs1556423725 LOW SNV MT-CO3 protein_coding - - - 4125 m.9801G>A 9801 G A 9 0.001238646 1 0.000137627 7266 0.001376273 MT_9801_G/A homo&heter ENSG00000198938 missense_variant Gta/Ata rs1556423726 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.2) benign(0.007) - 4126 m.9803A>G 9803 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9803_A/G homo ENSG00000198938 synonymous_variant gtA/gtG - LOW SNV MT-CO3 protein_coding - - - 4127 m.9804G>A 9804 G A 18 0.002477291 2 0.000275255 7266 0.002752546 MT_9804_G/A homo&heter ENSG00000198938 missense_variant Gcc/Acc rs200613617 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.06) benign(0.006) benign,pathogenic,uncertain_significance 4128 m.9809A>C 9809 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9809_A/C homo ENSG00000198938 synonymous_variant acA/acC - LOW SNV MT-CO3 protein_coding - - - 4129 m.9812C>T 9812 C T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_9812_C/T homo ENSG00000198938 synonymous_variant ggC/ggT - LOW SNV MT-CO3 protein_coding - - - 4130 m.9813T>C 9813 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_9813_T/C homo&heter ENSG00000198938 missense_variant Ttc/Ctc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.923) - 4131 m.9815C>T 9815 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_9815_C/T homo ENSG00000198938 synonymous_variant ttC/ttT - LOW SNV MT-CO3 protein_coding - - - 4132 m.9818C>T 9818 C T 55 0.007569502 0 0.000000000 7266 0.007569502 MT_9818_C/T homo ENSG00000198938 synonymous_variant caC/caT rs2854139 LOW SNV MT-CO3 protein_coding - - - 4133 m.9820G>A 9820 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9820_G/A heter ENSG00000198938 missense_variant gGa/gAa - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 4134 m.9822C>A 9822 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9822_C/A homo ENSG00000198938 missense_variant Ctt/Att - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.03) benign(0.069) - 4135 m.9824T>A 9824 T A 142 0.019543077 0 0.000000000 7266 0.019543077 MT_9824_T/A homo ENSG00000198938 synonymous_variant ctT/ctA - LOW SNV MT-CO3 protein_coding - - - 4136 m.9824T>C 9824 T C 387 0.053261767 0 0.000000000 7266 0.053261767 MT_9824_T/C homo ENSG00000198938 synonymous_variant ctT/ctC rs28411821 LOW SNV MT-CO3 protein_coding - - - 4137 m.9827C>T 9827 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9827_C/T homo ENSG00000198938 synonymous_variant caC/caT COSV62293691 LOW SNV MT-CO3 protein_coding - - - 4138 m.9828G>A 9828 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9828_G/A homo ENSG00000198938 missense_variant Gtc/Atc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.02) possibly_damaging(0.863) - 4139 m.9833T>C 9833 T C 20 0.002752546 1 0.000137627 7266 0.002890173 MT_9833_T/C homo&heter ENSG00000198938 synonymous_variant atT/atC rs869082930 LOW SNV MT-CO3 protein_coding - - - 4140 m.9835T>C 9835 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9835_T/C heter ENSG00000198938 missense_variant aTt/aCt - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.967) - 4141 m.9836T>C 9836 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_9836_T/C homo&heter ENSG00000198938 synonymous_variant atT/atC rs1556423731 LOW SNV MT-CO3 protein_coding - - - 4142 m.9838G>A 9838 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9838_G/A heter ENSG00000198938 missense_variant gGc/gAc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.02) probably_damaging(1) - 4143 m.9838G>C 9838 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9838_G/C heter ENSG00000198938 missense_variant gGc/gCc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.997) - 4144 m.9844C>T 9844 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9844_C/T homo ENSG00000198938 missense_variant aCt/aTt - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.08) benign(0.121) - 4145 m.9845T>C 9845 T C 32 0.004404074 0 0.000000000 7266 0.004404074 MT_9845_T/C homo ENSG00000198938 synonymous_variant acT/acC rs368439966 LOW SNV MT-CO3 protein_coding - - - 4146 m.9848C>T 9848 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_9848_C/T homo&heter ENSG00000198938 synonymous_variant ttC/ttT - LOW SNV MT-CO3 protein_coding - - - 4147 m.9851C>T 9851 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9851_C/T homo ENSG00000198938 synonymous_variant ctC/ctT rs879001953 LOW SNV MT-CO3 protein_coding - - - 4148 m.9852A>G 9852 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_9852_A/G homo ENSG00000198938 missense_variant Act/Gct - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.84) benign(0) - 4149 m.9852A>T 9852 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9852_A/T homo ENSG00000198938 missense_variant Act/Tct - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.14) benign(0.001) - 4150 m.9854T>C 9854 T C 9 0.001238646 1 0.000137627 7266 0.001376273 MT_9854_T/C homo&heter ENSG00000198938 synonymous_variant acT/acC - LOW SNV MT-CO3 protein_coding - - - 4151 m.9855A>G 9855 A G 11 0.001513900 0 0.000000000 7266 0.001513900 MT_9855_A/G homo ENSG00000198938 missense_variant Atc/Gtc rs201552272 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(1) benign(0) - 4152 m.9856T>C 9856 T C 15 0.002064410 1 0.000137627 7266 0.002202037 MT_9856_T/C homo&heter ENSG00000198938 missense_variant aTc/aCc - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.15) benign(0.001) - 4153 m.9860C>T 9860 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9860_C/T homo ENSG00000198938 synonymous_variant tgC/tgT - LOW SNV MT-CO3 protein_coding - - - 4154 m.9861T>C 9861 T C 11 0.001513900 0 0.000000000 7266 0.001513900 MT_9861_T/C homo ENSG00000198938 missense_variant Ttc/Ctc rs878853060 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(1) benign(0) benign,likely_benign 4155 m.9863C>G 9863 C G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9863_C/G heter ENSG00000198938 missense_variant ttC/ttG - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(1) benign(0) - 4156 m.9863C>T 9863 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9863_C/T homo ENSG00000198938 synonymous_variant ttC/ttT - LOW SNV MT-CO3 protein_coding - - - 4157 m.9865T>C 9865 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9865_T/C homo ENSG00000198938 missense_variant aTc/aCc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.04) benign(0) - 4158 m.9868G>A 9868 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9868_G/A heter ENSG00000198938 missense_variant cGc/cAc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) benign(0.433) - 4159 m.9869C>G 9869 C G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9869_C/G homo ENSG00000198938 synonymous_variant cgC/cgG - LOW SNV MT-CO3 protein_coding - - - 4160 m.9872A>G 9872 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9872_A/G homo ENSG00000198938 synonymous_variant caA/caG rs878946151 LOW SNV MT-CO3 protein_coding - - - 4161 m.9875A>G 9875 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9875_A/G homo ENSG00000198938 synonymous_variant ctA/ctG - LOW SNV MT-CO3 protein_coding - - - 4162 m.9878A>G 9878 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9878_A/G homo ENSG00000198938 synonymous_variant atA/atG - LOW SNV MT-CO3 protein_coding - - - 4163 m.9885T>C 9885 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9885_T/C heter ENSG00000198938 missense_variant Ttt/Ctt - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.979) - 4164 m.9887T>C 9887 T C 4 0.000550509 1 0.000137627 7266 0.000688137 MT_9887_T/C homo&heter ENSG00000198938 synonymous_variant ttT/ttC - LOW SNV MT-CO3 protein_coding - - - 4165 m.9891T>C 9891 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9891_T/C homo ENSG00000198938 missense_variant Tcc/Ccc - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.09) benign(0.003) - 4166 m.9893C>T 9893 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9893_C/T homo ENSG00000198938 synonymous_variant tcC/tcT - LOW SNV MT-CO3 protein_coding - - - 4167 m.9894A>G 9894 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9894_A/G homo ENSG00000198938 missense_variant Aaa/Gaa - MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.81) benign(0.027) - 4168 m.9896A>G 9896 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_9896_A/G homo ENSG00000198938 synonymous_variant aaA/aaG - LOW SNV MT-CO3 protein_coding - - - 4169 m.9899T>C 9899 T C 23 0.003165428 0 0.000000000 7266 0.003165428 MT_9899_T/C homo ENSG00000198938 synonymous_variant caT/caC rs41345446 LOW SNV MT-CO3 protein_coding - - - 4170 m.9902C>T 9902 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9902_C/T homo ENSG00000198938 synonymous_variant caC/caT - LOW SNV MT-CO3 protein_coding - - - 4171 m.9903T>C 9903 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9903_T/C homo ENSG00000198938 missense_variant Ttt/Ctt rs199999390 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.979) - 4172 m.9904T>C 9904 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9904_T/C heter ENSG00000198938 missense_variant tTt/tCt COSV62294530 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 4173 m.9905T>C 9905 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9905_T/C heter ENSG00000198938 synonymous_variant ttT/ttC rs369730420 LOW SNV MT-CO3 protein_coding - - - 4174 m.9906G>A 9906 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9906_G/A heter ENSG00000198938 missense_variant Ggc/Agc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 4175 m.9909T>C 9909 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9909_T/C homo ENSG00000198938 missense_variant Ttc/Ctc rs28690056 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.979) - 4176 m.9910T>C 9910 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_9910_T/C heter ENSG00000198938 missense_variant tTc/tCc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 4177 m.9911C>A 9911 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9911_C/A homo ENSG00000198938 missense_variant ttC/ttA - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.979) - 4178 m.9911C>T 9911 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9911_C/T homo ENSG00000198938 synonymous_variant ttC/ttT - LOW SNV MT-CO3 protein_coding - - - 4179 m.9912G>A 9912 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9912_G/A heter ENSG00000198938 missense_variant Gaa/Aaa rs28580363 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.993) - 4180 m.9915G>A 9915 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9915_G/A heter ENSG00000198938 missense_variant Gcc/Acc COSV62294006 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.994) - 4181 m.9918G>A 9918 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9918_G/A heter ENSG00000198938 missense_variant Gcc/Acc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.994) - 4182 m.9921G>A 9921 G A 10 0.001376273 0 0.000000000 7266 0.001376273 MT_9921_G/A homo ENSG00000198938 missense_variant Gcc/Acc rs1556423740 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.01) benign(0.009) - 4183 m.9923C>T 9923 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9923_C/T homo ENSG00000198938 synonymous_variant gcC/gcT rs879245005 LOW SNV MT-CO3 protein_coding - - - 4184 m.9926A>G 9926 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9926_A/G homo ENSG00000198938 synonymous_variant tgA/tgG - LOW SNV MT-CO3 protein_coding - - - 4185 m.9932G>A 9932 G A 59 0.008120011 0 0.000000000 7266 0.008120011 MT_9932_G/A homo ENSG00000198938 synonymous_variant tgG/tgA rs377610479,COSV62293502 LOW SNV MT-CO3 protein_coding - - - 4186 m.9935T>C 9935 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_9935_T/C homo ENSG00000198938 synonymous_variant caT/caC rs878861176 LOW SNV MT-CO3 protein_coding - - - 4187 m.9938T>C 9938 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9938_T/C homo ENSG00000198938 synonymous_variant ttT/ttC rs1556423744 LOW SNV MT-CO3 protein_coding - - - 4188 m.9941A>G 9941 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_9941_A/G homo ENSG00000198938 synonymous_variant gtA/gtG - LOW SNV MT-CO3 protein_coding - - - 4189 m.9942G>A 9942 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_9942_G/A heter ENSG00000198938 missense_variant Gat/Aat rs28715301 MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.995) - 4190 m.9944T>C 9944 T C 11 0.001513900 1 0.000137627 7266 0.001651528 MT_9944_T/C homo&heter ENSG00000198938 synonymous_variant gaT/gaC - LOW SNV MT-CO3 protein_coding - - - 4191 m.9947G>A 9947 G A 32 0.004404074 2 0.000275255 7266 0.004679328 MT_9947_G/A homo&heter ENSG00000198938 synonymous_variant gtG/gtA rs370688668 LOW SNV MT-CO3 protein_coding - - benign 4192 m.9948G>A 9948 G A 11 0.001513900 0 0.000000000 7266 0.001513900 MT_9948_G/A homo ENSG00000198938 missense_variant Gtt/Att rs1556423747 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.07) benign(0.003) - 4193 m.9949T>C 9949 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9949_T/C heter ENSG00000198938 missense_variant gTt/gCt - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) benign(0.389) - 4194 m.9950T>C 9950 T C 419 0.057665841 0 0.000000000 7266 0.057665841 MT_9950_T/C homo ENSG00000198938 synonymous_variant gtT/gtC rs3134801 LOW SNV MT-CO3 protein_coding - - - 4195 m.9954C>T 9954 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9954_C/T homo ENSG00000198938 synonymous_variant Cta/Tta - LOW SNV MT-CO3 protein_coding - - - 4196 m.9954CTA>C 9954 CTA C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9955_TA/- heter ENSG00000198938 frameshift_variant cTA/c - HIGH deletion MT-CO3 protein_coding - - - 4197 m.9956A>G 9956 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9956_A/G homo ENSG00000198938 synonymous_variant ctA/ctG - LOW SNV MT-CO3 protein_coding - - - 4198 m.9957T>C 9957 T C 20 0.002752546 0 0.000000000 7266 0.002752546 MT_9957_T/C homo ENSG00000198938 missense_variant Ttt/Ctt rs1556423753 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.08) benign(0) - 4199 m.9962G>A 9962 G A 27 0.003715937 0 0.000000000 7266 0.003715937 MT_9962_G/A homo ENSG00000198938 synonymous_variant ctG/ctA rs879229894 LOW SNV MT-CO3 protein_coding - - - 4200 m.9964A>G 9964 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9964_A/G heter ENSG00000198938 missense_variant tAt/tGt - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 4201 m.9965T>C 9965 T C 11 0.001513900 1 0.000137627 7266 0.001651528 MT_9965_T/C homo&heter ENSG00000198938 synonymous_variant taT/taC - LOW SNV MT-CO3 protein_coding - - - 4202 m.9966G>A 9966 G A 65 0.008945775 2 0.000275255 7266 0.009221029 MT_9966_G/A homo&heter ENSG00000198938 missense_variant Gtc/Atc rs200809063 MODERATE SNV MT-CO3 protein_coding tolerated_low_confidence(0.77) benign(0) likely_benign,benign 4203 m.9968C>A 9968 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9968_C/A homo ENSG00000198938 synonymous_variant gtC/gtA - LOW SNV MT-CO3 protein_coding - - - 4204 m.9968C>T 9968 C T 32 0.004404074 0 0.000000000 7266 0.004404074 MT_9968_C/T homo ENSG00000198938 synonymous_variant gtC/gtT - LOW SNV MT-CO3 protein_coding - - - 4205 m.9971C>T 9971 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_9971_C/T homo ENSG00000198938 synonymous_variant tcC/tcT rs386829090 LOW SNV MT-CO3 protein_coding - - - 4206 m.9973T>C 9973 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9973_T/C heter ENSG00000198938 missense_variant aTc/aCc - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) possibly_damaging(0.818) - 4207 m.9974C>T 9974 C T 2 0.000275255 1 0.000137627 7266 0.000412882 MT_9974_C/T homo&heter ENSG00000198938 synonymous_variant atC/atT - LOW SNV MT-CO3 protein_coding - - - 4208 m.9977T>C 9977 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9977_T/C homo ENSG00000198938 synonymous_variant taT/taC - LOW SNV MT-CO3 protein_coding - - - 4209 m.9979G>A 9979 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9979_G/A heter ENSG00000198938 stop_gained tGa/tAa - HIGH SNV MT-CO3 protein_coding - - - 4210 m.9983A>G 9983 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_9983_A/G homo ENSG00000198938 synonymous_variant tgA/tgG - LOW SNV MT-CO3 protein_coding - - - 4211 m.9984G>A 9984 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9984_G/A heter ENSG00000198938 stop_gained Ggg/Agg - HIGH SNV MT-CO3 protein_coding - - - 4212 m.9985G>A 9985 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_9985_G/A heter ENSG00000198938 missense_variant gGg/gAg - MODERATE SNV MT-CO3 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 4213 m.9986G>A 9986 G A 8 0.001101018 0 0.000000000 7266 0.001101018 MT_9986_G/A homo ENSG00000198938 synonymous_variant ggG/ggA rs879123897 LOW SNV MT-CO3 protein_coding - - - 4214 m.9992C>T 9992 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_9992_C/T homo ENSG00000210164 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TG Mt_tRNA - - - 4215 m.9996T>C 9996 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_9996_T/C homo ENSG00000210164 non_coding_transcript_exon_variant - rs1556423755 MODIFIER SNV MT-TG Mt_tRNA - - - 4216 m.10003T>C 10003 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10003_T/C homo ENSG00000210164 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TG Mt_tRNA - - - 4217 m.10005A>G 10005 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10005_A/G homo ENSG00000210164 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TG Mt_tRNA - - - 4218 m.10006A>G 10006 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_10006_A/G homo&heter ENSG00000210164 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TG Mt_tRNA - - - 4219 m.10007T>C 10007 T C 14 0.001926782 0 0.000000000 7266 0.001926782 MT_10007_T/C homo ENSG00000210164 non_coding_transcript_exon_variant - rs201906571 MODIFIER SNV MT-TG Mt_tRNA - - - 4220 m.10013C>T 10013 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10013_C/T homo ENSG00000210164 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TG Mt_tRNA - - - 4221 m.10014G>A 10014 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_10014_G/A heter ENSG00000210164 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TG Mt_tRNA - - - 4222 m.10018A>G 10018 A G 5 0.000688137 1 0.000137627 7266 0.000825764 MT_10018_A/G homo&heter ENSG00000210164 non_coding_transcript_exon_variant - rs1556423757 MODIFIER SNV MT-TG Mt_tRNA - - benign,not_provided 4223 m.10020T>C 10020 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_10020_T/C homo&heter ENSG00000210164 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TG Mt_tRNA - - - 4224 m.10029A>G 10029 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10029_A/G homo ENSG00000210164 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TG Mt_tRNA - - - 4225 m.10031T>C 10031 T C 46 0.006330856 0 0.000000000 7266 0.006330856 MT_10031_T/C homo ENSG00000210164 non_coding_transcript_exon_variant - rs200048690 MODIFIER SNV MT-TG Mt_tRNA - - - 4226 m.10034T>C 10034 T C 18 0.002477291 0 0.000000000 7266 0.002477291 MT_10034_T/C homo ENSG00000210164 non_coding_transcript_exon_variant - rs41347846 MODIFIER SNV MT-TG Mt_tRNA - - - 4227 m.10039A>G 10039 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10039_A/G homo ENSG00000210164 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TG Mt_tRNA - - - 4228 m.10040C>CA 10040 C CA 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10041_-/A homo ENSG00000210164 non_coding_transcript_exon_variant - - MODIFIER insertion MT-TG Mt_tRNA - - - 4229 m.10042A>C 10042 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10042_A/C homo ENSG00000210164 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TG Mt_tRNA - - - 4230 m.10042A>G 10042 A G 12 0.001651528 0 0.000000000 7266 0.001651528 MT_10042_A/G homo ENSG00000210164 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TG Mt_tRNA - - - 4231 m.10043C>T 10043 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10043_C/T homo ENSG00000210164 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TG Mt_tRNA - - - 4232 m.10044A>G 10044 A G 16 0.002202037 0 0.000000000 7266 0.002202037 MT_10044_A/G homo ENSG00000210164 non_coding_transcript_exon_variant - rs41362547 MODIFIER SNV MT-TG Mt_tRNA - - benign,pathogenic 4233 m.10045T>C 10045 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10045_T/C homo ENSG00000210164 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TG Mt_tRNA - - - 4234 m.10055A>G 10055 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10055_A/G homo ENSG00000210164 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TG Mt_tRNA - - - 4235 m.10068G>A 10068 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10068_G/A heter ENSG00000198840 missense_variant Gcc/Acc - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.3) benign(0.003) - 4236 m.10070C>T 10070 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_10070_C/T homo ENSG00000198840 synonymous_variant gcC/gcT rs1569484340 LOW SNV MT-ND3 protein_coding - - - 4237 m.10071T>C 10071 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_10071_T/C homo&heter ENSG00000198840 synonymous_variant Tta/Cta - LOW SNV MT-ND3 protein_coding - - - 4238 m.10073A>T 10073 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10073_A/T homo ENSG00000198840 missense_variant ttA/ttT - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0.03) probably_damaging(0.97) - 4239 m.10076T>C 10076 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10076_T/C homo ENSG00000198840 synonymous_variant atT/atC - LOW SNV MT-ND3 protein_coding - - - 4240 m.10083A>G 10083 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10083_A/G homo ENSG00000198840 missense_variant Atc/Gtc rs1556423760 MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.17) benign(0) - 4241 m.10084T>C 10084 T C 26 0.003578310 1 0.000137627 7266 0.003715937 MT_10084_T/C homo&heter ENSG00000198840 missense_variant aTc/aCc rs41487950 MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.34) benign(0) likely_benign,benign 4242 m.10086A>G 10086 A G 96 0.013212221 0 0.000000000 7266 0.013212221 MT_10086_A/G homo ENSG00000198840 missense_variant Aac/Gac rs28358274 MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0.05) possibly_damaging(0.903) - 4243 m.10088C>T 10088 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10088_C/T homo ENSG00000198840 synonymous_variant aaC/aaT - LOW SNV MT-ND3 protein_coding - - - 4244 m.10094C>T 10094 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10094_C/T homo ENSG00000198840 synonymous_variant ctC/ctT - LOW SNV MT-ND3 protein_coding - - - 4245 m.10097A>C 10097 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10097_A/C homo ENSG00000198840 synonymous_variant ctA/ctC - LOW SNV MT-ND3 protein_coding - - - 4246 m.10097A>G 10097 A G 32 0.004404074 1 0.000137627 7266 0.004541701 MT_10097_A/G homo&heter ENSG00000198840 synonymous_variant ctA/ctG - LOW SNV MT-ND3 protein_coding - - - 4247 m.10098G>A 10098 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_10098_G/A homo&heter ENSG00000198840 missense_variant Gcc/Acc - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.21) probably_damaging(0.989) - 4248 m.10098G>T 10098 G T 2 0.000275255 1 0.000137627 7266 0.000412882 MT_10098_G/T homo&heter ENSG00000198840 missense_variant Gcc/Tcc rs1569484342 MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(1) probably_damaging(0.983) - 4249 m.10101T>C 10101 T C 25 0.003440683 0 0.000000000 7266 0.003440683 MT_10101_T/C homo ENSG00000198840 synonymous_variant Tta/Cta - LOW SNV MT-ND3 protein_coding - - - 4250 m.10103A>G 10103 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_10103_A/G homo ENSG00000198840 synonymous_variant ttA/ttG - LOW SNV MT-ND3 protein_coding - - - 4251 m.10103A>T 10103 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10103_A/T homo ENSG00000198840 missense_variant ttA/ttT - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.17) probably_damaging(0.992) - 4252 m.10104C>T 10104 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10104_C/T homo ENSG00000198840 synonymous_variant Cta/Tta - LOW SNV MT-ND3 protein_coding - - - 4253 m.10111T>C 10111 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_10111_T/C heter ENSG00000198840 missense_variant aTa/aCa - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.1) possibly_damaging(0.861) - 4254 m.10115T>C 10115 T C 324 0.044591247 0 0.000000000 7266 0.044591247 MT_10115_T/C homo ENSG00000198840 synonymous_variant atT/atC rs3899188 LOW SNV MT-ND3 protein_coding - - - 4255 m.10118T>C 10118 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_10118_T/C homo&heter ENSG00000198840 synonymous_variant atT/atC rs878916424 LOW SNV MT-ND3 protein_coding - - - 4256 m.10123T>C 10123 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10123_T/C heter ENSG00000198840 missense_variant tTt/tCt - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0) probably_damaging(0.961) - 4257 m.10124T>C 10124 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_10124_T/C homo&heter ENSG00000198840 synonymous_variant ttT/ttC rs1556423765 LOW SNV MT-ND3 protein_coding - - - 4258 m.10125T>C 10125 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10125_T/C heter ENSG00000198840 missense_variant Tga/Cga - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 4259 m.10126G>A 10126 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10126_G/A heter ENSG00000198840 stop_gained tGa/tAa - HIGH SNV MT-ND3 protein_coding - - - 4260 m.10127A>G 10127 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10127_A/G homo ENSG00000198840 synonymous_variant tgA/tgG rs112133961 LOW SNV MT-ND3 protein_coding - - - 4261 m.10128C>T 10128 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_10128_C/T homo ENSG00000198840 synonymous_variant Cta/Tta - LOW SNV MT-ND3 protein_coding - - - 4262 m.10129T>C 10129 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_10129_T/C heter ENSG00000198840 missense_variant cTa/cCa - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 4263 m.10130A>C 10130 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10130_A/C homo ENSG00000198840 synonymous_variant ctA/ctC - LOW SNV MT-ND3 protein_coding - - - 4264 m.10136A>G 10136 A G 9 0.001238646 2 0.000275255 7266 0.001513900 MT_10136_A/G homo&heter ENSG00000198840 synonymous_variant caA/caG - LOW SNV MT-ND3 protein_coding - - - 4265 m.10142C>T 10142 C T 19 0.002614919 1 0.000137627 7266 0.002752546 MT_10142_C/T homo&heter ENSG00000198840 synonymous_variant aaC/aaT rs878969753 LOW SNV MT-ND3 protein_coding - - - 4266 m.10143G>A 10143 G A 28 0.003853565 0 0.000000000 7266 0.003853565 MT_10143_G/A homo ENSG00000198840 missense_variant Ggc/Agc rs202131419 MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.98) benign(0) - 4267 m.10144G>T 10144 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10144_G/T homo ENSG00000198840 missense_variant gGc/gTc - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.69) benign(0.056) - 4268 m.10151A>G 10151 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10151_A/G homo ENSG00000198840 synonymous_variant atA/atG - LOW SNV MT-ND3 protein_coding - - - 4269 m.10157A>G 10157 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10157_A/G homo ENSG00000198840 synonymous_variant aaA/aaG rs1569484349 LOW SNV MT-ND3 protein_coding - - - 4270 m.10158T>A 10158 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10158_T/A homo ENSG00000198840 missense_variant Tcc/Acc - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.39) benign(0.003) - 4271 m.10159C>A 10159 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10159_C/A homo ENSG00000198840 missense_variant tCc/tAc - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.41) possibly_damaging(0.57) - 4272 m.10159C>T 10159 C T 12 0.001651528 0 0.000000000 7266 0.001651528 MT_10159_C/T homo ENSG00000198840 missense_variant tCc/tTc - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.25) possibly_damaging(0.489) - 4273 m.10166T>C 10166 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_10166_T/C homo ENSG00000198840 synonymous_variant ccT/ccC rs1556423772 LOW SNV MT-ND3 protein_coding - - - 4274 m.10170G>A 10170 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10170_G/A heter ENSG00000198840 missense_variant Gag/Aag - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 4275 m.10172G>A 10172 G A 20 0.002752546 0 0.000000000 7266 0.002752546 MT_10172_G/A homo ENSG00000198840 synonymous_variant gaG/gaA rs879100790 LOW SNV MT-ND3 protein_coding - - - 4276 m.10174G>A 10174 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10174_G/A heter ENSG00000198840 missense_variant tGc/tAc - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 4277 m.10178C>T 10178 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10178_C/T homo ENSG00000198840 synonymous_variant ggC/ggT - LOW SNV MT-ND3 protein_coding - - - 4278 m.10181C>T 10181 C T 50 0.006881365 0 0.000000000 7266 0.006881365 MT_10181_C/T homo ENSG00000198840 synonymous_variant ttC/ttT rs1556423773 LOW SNV MT-ND3 protein_coding - - - 4279 m.10184C>T 10184 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10184_C/T homo ENSG00000198840 synonymous_variant gaC/gaT - LOW SNV MT-ND3 protein_coding - - - 4280 m.10187T>C 10187 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10187_T/C homo ENSG00000198840 synonymous_variant ccT/ccC - LOW SNV MT-ND3 protein_coding - - - 4281 m.10188A>G 10188 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10188_A/G homo ENSG00000198840 missense_variant Ata/Gta - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0.04) benign(0) - 4282 m.10190A>AT 10190 A AT 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10191_-/T heter ENSG00000198840 frameshift_variant -/T - HIGH insertion MT-ND3 protein_coding - - - 4283 m.10190A>G 10190 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10190_A/G homo ENSG00000198840 synonymous_variant atA/atG rs1569484353 LOW SNV MT-ND3 protein_coding - - - 4284 m.10191T>C 10191 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10191_T/C heter ENSG00000198840 missense_variant Tcc/Ccc rs267606890 MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0) possibly_damaging(0.451) pathogenic 4285 m.10191TC>T 10191 TC T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10192_C/- heter ENSG00000198840 frameshift_variant tCc/tc - HIGH deletion MT-ND3 protein_coding - - - 4286 m.10192C>T 10192 C T 6 0.000825764 1 0.000137627 7266 0.000963391 MT_10192_C/T homo&heter ENSG00000198840 missense_variant tCc/tTc rs1556423776 MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0) benign(0.003) - 4287 m.10196C>T 10196 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10196_C/T homo ENSG00000198840 synonymous_variant ccC/ccT rs1556423778 LOW SNV MT-ND3 protein_coding - - - 4288 m.10197G>A 10197 G A 0 0.000000000 4 0.000550509 7266 0.000550509 MT_10197_G/A heter ENSG00000198840 missense_variant Gcc/Acc rs267606891 MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.999) pathogenic 4289 m.10199C>T 10199 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10199_C/T homo ENSG00000198840 synonymous_variant gcC/gcT - LOW SNV MT-ND3 protein_coding - - - 4290 m.10203G>A 10203 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_10203_G/A homo&heter ENSG00000198840 missense_variant Gtc/Atc rs1556423781 MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.11) benign(0.006) - 4291 m.10205C>T 10205 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10205_C/T homo ENSG00000198840 synonymous_variant gtC/gtT - LOW SNV MT-ND3 protein_coding - - - 4292 m.10208T>C 10208 T C 81 0.011147812 1 0.000137627 7266 0.011285439 MT_10208_T/C homo&heter ENSG00000198840 synonymous_variant ccT/ccC - LOW SNV MT-ND3 protein_coding - - - 4293 m.10211C>T 10211 C T 40 0.005505092 0 0.000000000 7266 0.005505092 MT_10211_C/T homo ENSG00000198840 synonymous_variant ttC/ttT rs1556423783 LOW SNV MT-ND3 protein_coding - - - 4294 m.10217A>G 10217 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10217_A/G homo ENSG00000198840 synonymous_variant atA/atG rs1556423786 LOW SNV MT-ND3 protein_coding - - - 4295 m.10221T>C 10221 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10221_T/C heter ENSG00000198840 missense_variant Ttc/Ctc - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0) probably_damaging(0.996) - 4296 m.10223C>T 10223 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_10223_C/T homo ENSG00000198840 synonymous_variant ttC/ttT - LOW SNV MT-ND3 protein_coding - - - 4297 m.10226C>T 10226 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_10226_C/T homo&heter ENSG00000198840 synonymous_variant ttC/ttT - LOW SNV MT-ND3 protein_coding - - - 4298 m.10229A>G 10229 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10229_A/G homo ENSG00000198840 synonymous_variant ttA/ttG - LOW SNV MT-ND3 protein_coding - - - 4299 m.10231T>C 10231 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10231_T/C heter ENSG00000198840 missense_variant gTa/gCa - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0.01) benign(0.062) - 4300 m.10232A>G 10232 A G 26 0.003578310 1 0.000137627 7266 0.003715937 MT_10232_A/G homo&heter ENSG00000198840 synonymous_variant gtA/gtG - LOW SNV MT-ND3 protein_coding - - - 4301 m.10235T>C 10235 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_10235_T/C homo ENSG00000198840 synonymous_variant gcT/gcC - LOW SNV MT-ND3 protein_coding - - - 4302 m.10236A>G 10236 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10236_A/G homo ENSG00000198840 missense_variant Att/Gtt - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0.02) possibly_damaging(0.516) - 4303 m.10237T>C 10237 T C 9 0.001238646 1 0.000137627 7266 0.001376273 MT_10237_T/C homo&heter ENSG00000198840 missense_variant aTt/aCt rs1556423787 MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0) probably_damaging(0.937) pathogenic,benign 4304 m.10238T>C 10238 T C 88 0.012111203 0 0.000000000 7266 0.012111203 MT_10238_T/C homo ENSG00000198840 synonymous_variant atT/atC rs193302927 LOW SNV MT-ND3 protein_coding - - - 4305 m.10241C>T 10241 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10241_C/T homo ENSG00000198840 synonymous_variant acC/acT - LOW SNV MT-ND3 protein_coding - - - 4306 m.10245T>C 10245 T C 19 0.002614919 0 0.000000000 7266 0.002614919 MT_10245_T/C homo ENSG00000198840 synonymous_variant Tta/Cta - LOW SNV MT-ND3 protein_coding - - - 4307 m.10248T>C 10248 T C 4 0.000550509 1 0.000137627 7266 0.000688137 MT_10248_T/C homo&heter ENSG00000198840 synonymous_variant Tta/Cta - LOW SNV MT-ND3 protein_coding - - - 4308 m.10250A>G 10250 A G 4 0.000550509 1 0.000137627 7266 0.000688137 MT_10250_A/G homo&heter ENSG00000198840 synonymous_variant ttA/ttG - LOW SNV MT-ND3 protein_coding - - - 4309 m.10253T>C 10253 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10253_T/C homo ENSG00000198840 synonymous_variant ttT/ttC rs878991627 LOW SNV MT-ND3 protein_coding - - - 4310 m.10256T>C 10256 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_10256_T/C homo ENSG00000198840 synonymous_variant gaT/gaC rs1556423791 LOW SNV MT-ND3 protein_coding - - - 4311 m.10262A>G 10262 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_10262_A/G homo ENSG00000198840 synonymous_variant gaA/gaG - LOW SNV MT-ND3 protein_coding - - - 4312 m.10264T>C 10264 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10264_T/C heter ENSG00000198840 missense_variant aTt/aCt - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 4313 m.10265T>C 10265 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_10265_T/C homo ENSG00000198840 synonymous_variant atT/atC rs1556423792 LOW SNV MT-ND3 protein_coding - - - 4314 m.10266G>A 10266 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10266_G/A heter ENSG00000198840 missense_variant Gcc/Acc - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.999) - 4315 m.10268C>T 10268 C T 12 0.001651528 0 0.000000000 7266 0.001651528 MT_10268_C/T homo ENSG00000198840 synonymous_variant gcC/gcT rs376426900 LOW SNV MT-ND3 protein_coding - - - 4316 m.10274T>C 10274 T C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_10274_T/C homo ENSG00000198840 synonymous_variant ctT/ctC rs369647419 LOW SNV MT-ND3 protein_coding - - - 4317 m.10277A>G 10277 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_10277_A/G homo&heter ENSG00000198840 synonymous_variant ttA/ttG - LOW SNV MT-ND3 protein_coding - - - 4318 m.10281C>T 10281 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10281_C/T homo ENSG00000198840 synonymous_variant Cta/Tta - LOW SNV MT-ND3 protein_coding - - - 4319 m.10283A>G 10283 A G 5 0.000688137 1 0.000137627 7266 0.000825764 MT_10283_A/G homo&heter ENSG00000198840 synonymous_variant ctA/ctG rs1556423794 LOW SNV MT-ND3 protein_coding - - - 4320 m.10283A>T 10283 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10283_A/T homo ENSG00000198840 synonymous_variant ctA/ctT - LOW SNV MT-ND3 protein_coding - - - 4321 m.10286A>G 10286 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_10286_A/G homo ENSG00000198840 synonymous_variant ccA/ccG - LOW SNV MT-ND3 protein_coding - - - 4322 m.10289A>G 10289 A G 22 0.003027801 0 0.000000000 7266 0.003027801 MT_10289_A/G homo ENSG00000198840 synonymous_variant tgA/tgG rs1556423796 LOW SNV MT-ND3 protein_coding - - - 4323 m.10290G>A 10290 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_10290_G/A heter ENSG00000198840 missense_variant Gcc/Acc - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.941) - 4324 m.10292C>T 10292 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10292_C/T homo ENSG00000198840 synonymous_variant gcC/gcT - LOW SNV MT-ND3 protein_coding - - - 4325 m.10293C>A 10293 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10293_C/A homo ENSG00000198840 missense_variant Cta/Ata - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.49) probably_damaging(0.95) - 4326 m.10295A>G 10295 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_10295_A/G homo&heter ENSG00000198840 synonymous_variant ctA/ctG - LOW SNV MT-ND3 protein_coding - - - 4327 m.10302A>G 10302 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10302_A/G homo ENSG00000198840 missense_variant Act/Gct - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.59) benign(0.003) - 4328 m.10304T>C 10304 T C 8 0.001101018 1 0.000137627 7266 0.001238646 MT_10304_T/C homo&heter ENSG00000198840 synonymous_variant acT/acC rs375959635 LOW SNV MT-ND3 protein_coding - - - 4329 m.10306A>G 10306 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10306_A/G homo ENSG00000198840 missense_variant aAc/aGc - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.28) benign(0.104) - 4330 m.10307C>T 10307 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10307_C/T homo ENSG00000198840 synonymous_variant aaC/aaT rs879018312 LOW SNV MT-ND3 protein_coding - - - 4331 m.10308C>T 10308 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10308_C/T homo ENSG00000198840 synonymous_variant Ctg/Ttg - LOW SNV MT-ND3 protein_coding - - - 4332 m.10310G>A 10310 G A 750 0.103220479 3 0.000412882 7266 0.103633361 MT_10310_G/A homo&heter ENSG00000198840 synonymous_variant ctG/ctA rs41467651 LOW SNV MT-ND3 protein_coding - - - 4333 m.10310G>C 10310 G C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10310_G/C homo ENSG00000198840 synonymous_variant ctG/ctC - LOW SNV MT-ND3 protein_coding - - - 4334 m.10313A>G 10313 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10313_A/G homo ENSG00000198840 synonymous_variant ccA/ccG - LOW SNV MT-ND3 protein_coding - - - 4335 m.10316A>G 10316 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_10316_A/G homo ENSG00000198840 synonymous_variant ctA/ctG - LOW SNV MT-ND3 protein_coding - - - 4336 m.10318T>C 10318 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_10318_T/C heter ENSG00000198840 missense_variant aTa/aCa - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(1) benign(0.006) - 4337 m.10319A>G 10319 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10319_A/G homo ENSG00000198840 synonymous_variant atA/atG - LOW SNV MT-ND3 protein_coding - - - 4338 m.10320G>A 10320 G A 55 0.007569502 0 0.000000000 7266 0.007569502 MT_10320_G/A homo ENSG00000198840 missense_variant Gtt/Att rs28358276 MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.44) benign(0) - 4339 m.10321T>C 10321 T C 45 0.006193229 0 0.000000000 7266 0.006193229 MT_10321_T/C homo ENSG00000198840 missense_variant gTt/gCt rs193302928 MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.09) benign(0) likely_benign,benign 4340 m.10322T>C 10322 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10322_T/C homo ENSG00000198840 synonymous_variant gtT/gtC rs879248551 LOW SNV MT-ND3 protein_coding - - - 4341 m.10323A>G 10323 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10323_A/G homo ENSG00000198840 missense_variant Atg/Gtg - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.29) benign(0.034) - 4342 m.10324T>C 10324 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10324_T/C homo ENSG00000198840 missense_variant aTg/aCg - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.82) benign(0.001) - 4343 m.10325G>A 10325 G A 45 0.006193229 0 0.000000000 7266 0.006193229 MT_10325_G/A homo ENSG00000198840 synonymous_variant atG/atA rs386829097 LOW SNV MT-ND3 protein_coding - - - 4344 m.10326T>C 10326 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10326_T/C heter ENSG00000198840 missense_variant Tca/Cca - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.21) probably_damaging(0.91) - 4345 m.10327C>T 10327 C T 2 0.000275255 1 0.000137627 7266 0.000412882 MT_10327_C/T homo&heter ENSG00000198840 missense_variant tCa/tTa - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.93) benign(0.046) - 4346 m.10331C>T 10331 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10331_C/T homo ENSG00000198840 synonymous_variant tcC/tcT - LOW SNV MT-ND3 protein_coding - - - 4347 m.10335T>C 10335 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10335_T/C homo ENSG00000198840 synonymous_variant Tta/Cta rs878853041 LOW SNV MT-ND3 protein_coding - - likely_benign 4348 m.10340A>G 10340 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10340_A/G homo ENSG00000198840 synonymous_variant ttA/ttG - LOW SNV MT-ND3 protein_coding - - - 4349 m.10342T>C 10342 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10342_T/C homo ENSG00000198840 missense_variant aTc/aCc - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0.02) possibly_damaging(0.801) - 4350 m.10343C>T 10343 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10343_C/T homo ENSG00000198840 synonymous_variant atC/atT - LOW SNV MT-ND3 protein_coding - - - 4351 m.10345T>C 10345 T C 16 0.002202037 1 0.000137627 7266 0.002339664 MT_10345_T/C homo&heter ENSG00000198840 missense_variant aTc/aCc rs201397417 MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.09) benign(0.006) - 4352 m.10350C>A 10350 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10350_C/A homo ENSG00000198840 missense_variant Cta/Ata - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0.01) probably_damaging(1) - 4353 m.10352A>G 10352 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10352_A/G homo ENSG00000198840 synonymous_variant ctA/ctG - LOW SNV MT-ND3 protein_coding - - - 4354 m.10358A>G 10358 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10358_A/G homo ENSG00000198840 synonymous_variant ctA/ctG - LOW SNV MT-ND3 protein_coding - - - 4355 m.10361T>C 10361 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10361_T/C homo ENSG00000198840 synonymous_variant agT/agC - LOW SNV MT-ND3 protein_coding - - - 4356 m.10364G>A 10364 G A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_10364_G/A homo ENSG00000198840 synonymous_variant ctG/ctA rs878863343 LOW SNV MT-ND3 protein_coding - - - 4357 m.10365G>A 10365 G A 2 0.000275255 1 0.000137627 7266 0.000412882 MT_10365_G/A homo&heter ENSG00000198840 missense_variant Gcc/Acc - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.11) benign(0.019) - 4358 m.10366C>T 10366 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10366_C/T heter ENSG00000198840 missense_variant gCc/gTc - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.25) benign(0.033) - 4359 m.10370T>C 10370 T C 17 0.002339664 1 0.000137627 7266 0.002477291 MT_10370_T/C homo&heter ENSG00000198840 synonymous_variant taT/taC rs28673954 LOW SNV MT-ND3 protein_coding - - - 4360 m.10371G>A 10371 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_10371_G/A heter ENSG00000198840 missense_variant Gag/Aag - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 4361 m.10373G>A 10373 G A 96 0.013212221 3 0.000412882 7266 0.013625103 MT_10373_G/A homo&heter ENSG00000198840 synonymous_variant gaG/gaA rs28358277 LOW SNV MT-ND3 protein_coding - - - 4362 m.10376A>G 10376 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_10376_A/G homo ENSG00000198840 synonymous_variant tgA/tgG - LOW SNV MT-ND3 protein_coding - - - 4363 m.10379A>G 10379 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10379_A/G homo ENSG00000198840 synonymous_variant ctA/ctG - LOW SNV MT-ND3 protein_coding - - - 4364 m.10382A>G 10382 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10382_A/G heter ENSG00000198840 synonymous_variant caA/caG - LOW SNV MT-ND3 protein_coding - - - 4365 m.10387G>A 10387 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10387_G/A heter ENSG00000198840 missense_variant gGa/gAa - MODERATE SNV MT-ND3 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 4366 m.10388A>G 10388 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10388_A/G homo ENSG00000198840 synonymous_variant ggA/ggG - LOW SNV MT-ND3 protein_coding - - - 4367 m.10389T>C 10389 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_10389_T/C homo ENSG00000198840 synonymous_variant Tta/Cta - LOW SNV MT-ND3 protein_coding - - - 4368 m.10394C>G 10394 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10394_C/G homo ENSG00000198840 missense_variant gaC/gaG - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(1) benign(0.033) - 4369 m.10394C>T 10394 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10394_C/T homo ENSG00000198840 synonymous_variant gaC/gaT rs1556423806 LOW SNV MT-ND3 protein_coding - - - 4370 m.10397A>G 10397 A G 319 0.043903110 0 0.000000000 7266 0.043903110 MT_10397_A/G homo ENSG00000198840 synonymous_variant tgA/tgG rs879111957 LOW SNV MT-ND3 protein_coding - - - 4371 m.10398A>G 10398 A G 4210 0.579410955 9 0.001238646 7266 0.580649601 MT_10398_A/G homo&heter ENSG00000198840 missense_variant Acc/Gcc rs2853826 MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(1) benign(0) benign,protective 4372 m.10398A>T 10398 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10398_A/T homo ENSG00000198840 missense_variant Acc/Tcc - MODERATE SNV MT-ND3 protein_coding tolerated_low_confidence(0.09) benign(0.015) - 4373 m.10400C>A 10400 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10400_C/A homo ENSG00000198840 synonymous_variant acC/acA - LOW SNV MT-ND3 protein_coding - - - 4374 m.10400C>T 10400 C T 2848 0.391962565 0 0.000000000 7266 0.391962565 MT_10400_C/T homo ENSG00000198840 synonymous_variant acC/acT rs28358278 LOW SNV MT-ND3 protein_coding - - - 4375 m.10403A>G 10403 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_10403_A/G homo ENSG00000198840 synonymous_variant gaA/gaG - LOW SNV MT-ND3 protein_coding - - - 4376 m.10410T>A 10410 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10410_T/A homo ENSG00000210174 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TR Mt_tRNA - - - 4377 m.10410T>C 10410 T C 45 0.006193229 1 0.000137627 7266 0.006330856 MT_10410_T/C homo&heter ENSG00000210174 non_coding_transcript_exon_variant - rs200478835 MODIFIER SNV MT-TR Mt_tRNA - - - 4378 m.10411A>G 10411 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10411_A/G homo ENSG00000210174 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TR Mt_tRNA - - - 4379 m.10412T>C 10412 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10412_T/C heter ENSG00000210174 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TR Mt_tRNA - - - 4380 m.10420A>G 10420 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10420_A/G homo ENSG00000210174 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TR Mt_tRNA - - - 4381 m.10427G>A 10427 G A 6 0.000825764 1 0.000137627 7266 0.000963391 MT_10427_G/A homo&heter ENSG00000210174 non_coding_transcript_exon_variant - rs1556423809 MODIFIER SNV MT-TR Mt_tRNA - - - 4382 m.10440T>C 10440 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10440_T/C heter ENSG00000210174 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TR Mt_tRNA - - - 4383 m.10446A>G 10446 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10446_A/G heter ENSG00000210174 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TR Mt_tRNA - - - 4384 m.10454T>C 10454 T C 59 0.008120011 0 0.000000000 7266 0.008120011 MT_10454_T/C homo ENSG00000210174 non_coding_transcript_exon_variant - rs878874133 MODIFIER SNV MT-TR Mt_tRNA - - - 4385 m.10459A>G 10459 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10459_A/G heter ENSG00000210174 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TR Mt_tRNA - - - 4386 m.10463T>A 10463 T A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10463_T/A homo ENSG00000210174 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TR Mt_tRNA - - - 4387 m.10463T>C 10463 T C 91 0.012524085 0 0.000000000 7266 0.012524085 MT_10463_T/C homo ENSG00000210174 non_coding_transcript_exon_variant - rs28358279 MODIFIER SNV MT-TR Mt_tRNA - - - 4388 m.10469A>G 10469 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10469_A/G homo ENSG00000210174 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TR Mt_tRNA - - - 4389 m.10472G>C 10472 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10472_G/C heter ENSG00000212907 start_lost atG/atC - HIGH SNV MT-ND4L protein_coding deleterious(0.01) probably_damaging(0.969) - 4390 m.10479A>G 10479 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10479_A/G homo ENSG00000212907 missense_variant Att/Gtt - MODERATE SNV MT-ND4L protein_coding tolerated(0.56) benign(0.031) - 4391 m.10481T>C 10481 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_10481_T/C homo&heter ENSG00000212907 synonymous_variant atT/atC - LOW SNV MT-ND4L protein_coding - - - 4392 m.10484C>T 10484 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_10484_C/T homo&heter ENSG00000212907 synonymous_variant taC/taT - LOW SNV MT-ND4L protein_coding - - - 4393 m.10490T>C 10490 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_10490_T/C homo&heter ENSG00000212907 synonymous_variant aaT/aaC rs1556423813 LOW SNV MT-ND4L protein_coding - - - 4394 m.10492T>C 10492 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10492_T/C heter ENSG00000212907 missense_variant aTt/aCt - MODERATE SNV MT-ND4L protein_coding tolerated(0.09) benign(0.117) - 4395 m.10493T>C 10493 T C 11 0.001513900 0 0.000000000 7266 0.001513900 MT_10493_T/C homo ENSG00000212907 synonymous_variant atT/atC rs1556423816,COSV62294237 LOW SNV MT-ND4L protein_coding - - - 4396 m.10495T>C 10495 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_10495_T/C homo&heter ENSG00000212907 missense_variant aTa/aCa - MODERATE SNV MT-ND4L protein_coding tolerated(1) benign(0.001) - 4397 m.10496A>G 10496 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10496_A/G homo ENSG00000212907 synonymous_variant atA/atG rs1556423817 LOW SNV MT-ND4L protein_coding - - - 4398 m.10497C>T 10497 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_10497_C/T homo ENSG00000212907 synonymous_variant Cta/Tta - LOW SNV MT-ND4L protein_coding - - - 4399 m.10499A>G 10499 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_10499_A/G homo ENSG00000212907 synonymous_variant ctA/ctG rs1057520074 LOW SNV MT-ND4L protein_coding - - benign 4400 m.10500G>A 10500 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10500_G/A heter ENSG00000212907 missense_variant Gca/Aca - MODERATE SNV MT-ND4L protein_coding tolerated(0.07) benign(0.08) - 4401 m.10506A>G 10506 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10506_A/G homo ENSG00000212907 missense_variant Acc/Gcc rs199688733 MODERATE SNV MT-ND4L protein_coding tolerated(0.27) benign(0.003) - 4402 m.10511C>T 10511 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10511_C/T homo ENSG00000212907 synonymous_variant atC/atT - LOW SNV MT-ND4L protein_coding - - - 4403 m.10514A>G 10514 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_10514_A/G homo ENSG00000212907 synonymous_variant tcA/tcG rs386829102 LOW SNV MT-ND4L protein_coding - - - 4404 m.10514A>T 10514 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10514_A/T heter ENSG00000212907 synonymous_variant tcA/tcT - LOW SNV MT-ND4L protein_coding - - - 4405 m.10522G>A 10522 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_10522_G/A heter ENSG00000212907 missense_variant gGa/gAa - MODERATE SNV MT-ND4L protein_coding deleterious(0.01) probably_damaging(1) - 4406 m.10523A>G 10523 A G 18 0.002477291 0 0.000000000 7266 0.002477291 MT_10523_A/G homo ENSG00000212907 synonymous_variant ggA/ggG - LOW SNV MT-ND4L protein_coding - - - 4407 m.10524A>G 10524 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10524_A/G heter ENSG00000212907 missense_variant Ata/Gta - MODERATE SNV MT-ND4L protein_coding tolerated(0.24) benign(0.013) - 4408 m.10525T>C 10525 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10525_T/C heter ENSG00000212907 missense_variant aTa/aCa - MODERATE SNV MT-ND4L protein_coding tolerated(0.26) benign(0.225) - 4409 m.10527C>T 10527 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10527_C/T homo ENSG00000212907 synonymous_variant Cta/Tta - LOW SNV MT-ND4L protein_coding - - - 4410 m.10529A>G 10529 A G 11 0.001513900 0 0.000000000 7266 0.001513900 MT_10529_A/G homo ENSG00000212907 synonymous_variant ctA/ctG - LOW SNV MT-ND4L protein_coding - - - 4411 m.10530G>A 10530 G A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_10530_G/A homo ENSG00000212907 missense_variant Gta/Ata - MODERATE SNV MT-ND4L protein_coding tolerated(0.88) benign(0.059) - 4412 m.10531T>C 10531 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_10531_T/C heter ENSG00000212907 missense_variant gTa/gCa - MODERATE SNV MT-ND4L protein_coding tolerated(0.06) benign(0.147) - 4413 m.10532A>C 10532 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10532_A/C homo ENSG00000212907 synonymous_variant gtA/gtC - LOW SNV MT-ND4L protein_coding - - - 4414 m.10532A>G 10532 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10532_A/G homo ENSG00000212907 synonymous_variant gtA/gtG - LOW SNV MT-ND4L protein_coding - - - 4415 m.10533T>C 10533 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_10533_T/C heter ENSG00000212907 missense_variant Tat/Cat - MODERATE SNV MT-ND4L protein_coding tolerated(0.71) probably_damaging(1) - 4416 m.10535T>C 10535 T C 157 0.021607487 0 0.000000000 7266 0.021607487 MT_10535_T/C homo ENSG00000212907 synonymous_variant taT/taC - LOW SNV MT-ND4L protein_coding - - - 4417 m.10544C>T 10544 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10544_C/T homo ENSG00000212907 synonymous_variant caC/caT rs1556423824 LOW SNV MT-ND4L protein_coding - - - 4418 m.10547C>T 10547 C T 2 0.000275255 2 0.000275255 7266 0.000550509 MT_10547_C/T homo&heter ENSG00000212907 synonymous_variant ctC/ctT - LOW SNV MT-ND4L protein_coding - - - 4419 m.10550A>G 10550 A G 42 0.005780347 0 0.000000000 7266 0.005780347 MT_10550_A/G homo ENSG00000212907 synonymous_variant atA/atG rs28358280 LOW SNV MT-ND4L protein_coding - - - 4420 m.10556C>G 10556 C G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10556_C/G homo ENSG00000212907 synonymous_variant tcC/tcG - LOW SNV MT-ND4L protein_coding - - - 4421 m.10556C>T 10556 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10556_C/T homo ENSG00000212907 synonymous_variant tcC/tcT - LOW SNV MT-ND4L protein_coding - - - 4422 m.10557C>T 10557 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10557_C/T heter ENSG00000212907 synonymous_variant Cta/Tta - LOW SNV MT-ND4L protein_coding - - - 4423 m.10560C>T 10560 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_10560_C/T homo&heter ENSG00000212907 synonymous_variant Cta/Tta - LOW SNV MT-ND4L protein_coding - - - 4424 m.10562A>G 10562 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10562_A/G homo ENSG00000212907 synonymous_variant ctA/ctG rs1569484383 LOW SNV MT-ND4L protein_coding - - - 4425 m.10564G>A 10564 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10564_G/A heter ENSG00000212907 missense_variant tGc/tAc - MODERATE SNV MT-ND4L protein_coding deleterious(0) probably_damaging(1) - 4426 m.10565C>T 10565 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_10565_C/T homo ENSG00000212907 synonymous_variant tgC/tgT - LOW SNV MT-ND4L protein_coding - - - 4427 m.10576T>C 10576 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_10576_T/C heter ENSG00000212907 missense_variant aTa/aCa - MODERATE SNV MT-ND4L protein_coding deleterious(0) possibly_damaging(0.488) - 4428 m.10577A>G 10577 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10577_A/G homo ENSG00000212907 synonymous_variant atA/atG - LOW SNV MT-ND4L protein_coding - - - 4429 m.10579T>C 10579 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10579_T/C heter ENSG00000212907 missense_variant aTa/aCa - MODERATE SNV MT-ND4L protein_coding deleterious(0) benign(0.022) - 4430 m.10580A>G 10580 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10580_A/G homo ENSG00000212907 synonymous_variant atA/atG - LOW SNV MT-ND4L protein_coding - - - 4431 m.10581C>T 10581 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10581_C/T homo ENSG00000212907 synonymous_variant Cta/Tta - LOW SNV MT-ND4L protein_coding - - - 4432 m.10583A>G 10583 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10583_A/G homo ENSG00000212907 synonymous_variant ctA/ctG rs386829104 LOW SNV MT-ND4L protein_coding - - - 4433 m.10586G>A 10586 G A 228 0.031379026 1 0.000137627 7266 0.031516653 MT_10586_G/A homo&heter ENSG00000212907 synonymous_variant tcG/tcA rs28358281 LOW SNV MT-ND4L protein_coding - - - 4434 m.10586G>C 10586 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10586_G/C homo ENSG00000212907 synonymous_variant tcG/tcC - LOW SNV MT-ND4L protein_coding - - - 4435 m.10587C>T 10587 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10587_C/T homo ENSG00000212907 synonymous_variant Ctg/Ttg rs879216682 LOW SNV MT-ND4L protein_coding - - - 4436 m.10589G>A 10589 G A 64 0.008808148 0 0.000000000 7266 0.008808148 MT_10589_G/A homo ENSG00000212907 synonymous_variant ctG/ctA rs2853487 LOW SNV MT-ND4L protein_coding - - - 4437 m.10591T>C 10591 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10591_T/C heter ENSG00000212907 missense_variant tTc/tCc - MODERATE SNV MT-ND4L protein_coding deleterious(0) probably_damaging(0.947) - 4438 m.10595T>C 10595 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10595_T/C homo ENSG00000212907 synonymous_variant atT/atC rs1556423831 LOW SNV MT-ND4L protein_coding - - - 4439 m.10597T>C 10597 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10597_T/C heter ENSG00000212907 missense_variant aTa/aCa COSV62294473 MODERATE SNV MT-ND4L protein_coding tolerated(0.13) benign(0.013) - 4440 m.10598A>G 10598 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_10598_A/G homo ENSG00000212907 synonymous_variant atA/atG rs1556423834 LOW SNV MT-ND4L protein_coding - - - 4441 m.10599G>A 10599 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_10599_G/A heter ENSG00000212907 missense_variant Gct/Act - MODERATE SNV MT-ND4L protein_coding tolerated(0.45) benign(0) - 4442 m.10601T>C 10601 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_10601_T/C homo ENSG00000212907 synonymous_variant gcT/gcC rs370873805 LOW SNV MT-ND4L protein_coding - - - 4443 m.10604T>C 10604 T C 26 0.003578310 0 0.000000000 7266 0.003578310 MT_10604_T/C homo ENSG00000212907 synonymous_variant acT/acC - LOW SNV MT-ND4L protein_coding - - - 4444 m.10607C>T 10607 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10607_C/T homo ENSG00000212907 synonymous_variant ctC/ctT rs879012922 LOW SNV MT-ND4L protein_coding - - - 4445 m.10609T>C 10609 T C 488 0.067162125 0 0.000000000 7266 0.067162125 MT_10609_T/C homo ENSG00000212907 missense_variant aTa/aCa rs200487531 MODERATE SNV MT-ND4L protein_coding tolerated(0.79) benign(0.003) - 4446 m.10619C>T 10619 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_10619_C/T homo ENSG00000212907 synonymous_variant aaC/aaT rs1556423838 LOW SNV MT-ND4L protein_coding - - - 4447 m.10622C>T 10622 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_10622_C/T homo ENSG00000212907 synonymous_variant acC/acT - LOW SNV MT-ND4L protein_coding - - - 4448 m.10626T>C 10626 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10626_T/C heter ENSG00000212907 missense_variant Tcc/Ccc - MODERATE SNV MT-ND4L protein_coding tolerated(0.2) possibly_damaging(0.643) - 4449 m.10628C>T 10628 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10628_C/T homo ENSG00000212907 synonymous_variant tcC/tcT - LOW SNV MT-ND4L protein_coding - - - 4450 m.10631C>A 10631 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10631_C/A homo ENSG00000212907 synonymous_variant ctC/ctA - LOW SNV MT-ND4L protein_coding - - - 4451 m.10631C>T 10631 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10631_C/T homo ENSG00000212907 synonymous_variant ctC/ctT - LOW SNV MT-ND4L protein_coding - - - 4452 m.10632T>C 10632 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_10632_T/C homo ENSG00000212907 synonymous_variant Tta/Cta rs878888873 LOW SNV MT-ND4L protein_coding - - likely_benign 4453 m.10634A>G 10634 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10634_A/G homo ENSG00000212907 synonymous_variant ttA/ttG - LOW SNV MT-ND4L protein_coding - - - 4454 m.10635G>A 10635 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10635_G/A homo ENSG00000212907 missense_variant Gcc/Acc - MODERATE SNV MT-ND4L protein_coding tolerated(0.46) benign(0.007) - 4455 m.10637C>T 10637 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10637_C/T homo ENSG00000212907 synonymous_variant gcC/gcT - LOW SNV MT-ND4L protein_coding - - - 4456 m.10640T>C 10640 T C 39 0.005367465 1 0.000137627 7266 0.005505092 MT_10640_T/C homo&heter ENSG00000212907 synonymous_variant aaT/aaC rs386419955 LOW SNV MT-ND4L protein_coding - - - 4457 m.10644G>A 10644 G A 1 0.000137627 2 0.000275255 7266 0.000412882 MT_10644_G/A homo&heter ENSG00000212907 missense_variant Gtg/Atg rs1569484385 MODERATE SNV MT-ND4L protein_coding tolerated(0.75) benign(0.013) likely_benign,uncertain_significance 4458 m.10646G>A 10646 G A 85 0.011698321 1 0.000137627 7266 0.011835948 MT_10646_G/A homo&heter ENSG00000212907 synonymous_variant gtG/gtA rs879148195 LOW SNV MT-ND4L protein_coding - - - 4459 m.10646G>C 10646 G C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10646_G/C homo ENSG00000212907 synonymous_variant gtG/gtC - LOW SNV MT-ND4L protein_coding - - - 4460 m.10649T>C 10649 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_10649_T/C homo ENSG00000212907 synonymous_variant ccT/ccC - LOW SNV MT-ND4L protein_coding - - - 4461 m.10652T>C 10652 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10652_T/C homo ENSG00000212907 synonymous_variant atT/atC - LOW SNV MT-ND4L protein_coding - - - 4462 m.10653G>A 10653 G A 3 0.000412882 1 0.000137627 7266 0.000550509 MT_10653_G/A homo&heter ENSG00000212907 missense_variant Gcc/Acc rs386829108 MODERATE SNV MT-ND4L protein_coding tolerated(0.21) benign(0.003) - 4463 m.10654C>T 10654 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10654_C/T homo ENSG00000212907 missense_variant gCc/gTc - MODERATE SNV MT-ND4L protein_coding tolerated(0.25) benign(0.007) - 4464 m.10655C>T 10655 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10655_C/T homo ENSG00000212907 synonymous_variant gcC/gcT - LOW SNV MT-ND4L protein_coding - - - 4465 m.10658A>G 10658 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10658_A/G homo ENSG00000212907 synonymous_variant atA/atG rs879208489 LOW SNV MT-ND4L protein_coding - - - 4466 m.10659C>T 10659 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10659_C/T homo ENSG00000212907 synonymous_variant Cta/Tta - LOW SNV MT-ND4L protein_coding - - - 4467 m.10664C>T 10664 C T 52 0.007156620 0 0.000000000 7266 0.007156620 MT_10664_C/T homo ENSG00000212907 synonymous_variant gtC/gtT rs193302933 LOW SNV MT-ND4L protein_coding - - - 4468 m.10667T>C 10667 T C 25 0.003440683 1 0.000137627 7266 0.003578310 MT_10667_T/C homo&heter ENSG00000212907 synonymous_variant ttT/ttC rs1569484388 LOW SNV MT-ND4L protein_coding - - - 4469 m.10670C>T 10670 C T 13 0.001789155 0 0.000000000 7266 0.001789155 MT_10670_C/T homo ENSG00000212907 synonymous_variant gcC/gcT rs879190069 LOW SNV MT-ND4L protein_coding - - - 4470 m.10673C>A 10673 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10673_C/A homo ENSG00000212907 synonymous_variant gcC/gcA - LOW SNV MT-ND4L protein_coding - - - 4471 m.10677G>A 10677 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10677_G/A heter ENSG00000212907 missense_variant Gaa/Aaa - MODERATE SNV MT-ND4L protein_coding deleterious(0) benign(0.187) - 4472 m.10679A>G 10679 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_10679_A/G homo ENSG00000212907 synonymous_variant gaA/gaG rs386829109 LOW SNV MT-ND4L protein_coding - - - 4473 m.10680G>A 10680 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10680_G/A homo ENSG00000212907 missense_variant Gca/Aca - MODERATE SNV MT-ND4L protein_coding tolerated(0.08) benign(0.049) - 4474 m.10682A>G 10682 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10682_A/G homo ENSG00000212907 synonymous_variant gcA/gcG - LOW SNV MT-ND4L protein_coding - - - 4475 m.10685G>A 10685 G A 41 0.005642720 4 0.000550509 7266 0.006193229 MT_10685_G/A homo&heter ENSG00000212907 synonymous_variant gcG/gcA rs372025447 LOW SNV MT-ND4L protein_coding - - - 4476 m.10688G>A 10688 G A 231 0.031791908 1 0.000137627 7266 0.031929535 MT_10688_G/A homo&heter ENSG00000212907 synonymous_variant gtG/gtA rs2853488 LOW SNV MT-ND4L protein_coding - - - 4477 m.10691C>T 10691 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10691_C/T homo ENSG00000212907 synonymous_variant ggC/ggT - LOW SNV MT-ND4L protein_coding - - - 4478 m.10692C>T 10692 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10692_C/T homo ENSG00000212907 synonymous_variant Cta/Tta - LOW SNV MT-ND4L protein_coding - - - 4479 m.10694A>G 10694 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10694_A/G homo ENSG00000212907 synonymous_variant ctA/ctG rs386829110 LOW SNV MT-ND4L protein_coding - - - 4480 m.10694A>T 10694 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10694_A/T homo ENSG00000212907 synonymous_variant ctA/ctT - LOW SNV MT-ND4L protein_coding - - - 4481 m.10699T>C 10699 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10699_T/C heter ENSG00000212907 missense_variant cTa/cCa - MODERATE SNV MT-ND4L protein_coding deleterious(0) probably_damaging(1) - 4482 m.10700A>G 10700 A G 11 0.001513900 1 0.000137627 7266 0.001651528 MT_10700_A/G homo&heter ENSG00000212907 synonymous_variant ctA/ctG rs879139020 LOW SNV MT-ND4L protein_coding - - - 4483 m.10702T>C 10702 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10702_T/C heter ENSG00000212907 missense_variant cTa/cCa - MODERATE SNV MT-ND4L protein_coding deleterious(0) probably_damaging(1) - 4484 m.10709A>C 10709 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10709_A/C homo ENSG00000212907 synonymous_variant tcA/tcC rs1556423854 LOW SNV MT-ND4L protein_coding - - - 4485 m.10712C>T 10712 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10712_C/T homo ENSG00000212907 synonymous_variant atC/atT rs869201226 LOW SNV MT-ND4L protein_coding - - - 4486 m.10718C>T 10718 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10718_C/T homo ENSG00000212907 synonymous_variant aaC/aaT - LOW SNV MT-ND4L protein_coding - - - 4487 m.10724T>C 10724 T C 9 0.001238646 1 0.000137627 7266 0.001376273 MT_10724_T/C homo&heter ENSG00000212907 synonymous_variant taT/taC - LOW SNV MT-ND4L protein_coding - - - 4488 m.10726G>A 10726 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10726_G/A heter ENSG00000212907 missense_variant gGc/gAc - MODERATE SNV MT-ND4L protein_coding deleterious(0) probably_damaging(0.962) - 4489 m.10727C>T 10727 C T 14 0.001926782 0 0.000000000 7266 0.001926782 MT_10727_C/T homo ENSG00000212907 synonymous_variant ggC/ggT rs879210237 LOW SNV MT-ND4L protein_coding - - - 4490 m.10733C>T 10733 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10733_C/T homo ENSG00000212907 synonymous_variant gaC/gaT rs28709356 LOW SNV MT-ND4L protein_coding - - - 4491 m.10736C>T 10736 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_10736_C/T homo ENSG00000212907 synonymous_variant taC/taT - LOW SNV MT-ND4L protein_coding - - - 4492 m.10739A>G 10739 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10739_A/G homo ENSG00000212907 synonymous_variant gtA/gtG - LOW SNV MT-ND4L protein_coding - - - 4493 m.10742T>C 10742 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10742_T/C homo ENSG00000212907 synonymous_variant caT/caC - LOW SNV MT-ND4L protein_coding - - - 4494 m.10742T>G 10742 T G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_10742_T/G homo ENSG00000212907 missense_variant caT/caG - MODERATE SNV MT-ND4L protein_coding tolerated(1) benign(0.006) - 4495 m.10745C>T 10745 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10745_C/T homo ENSG00000212907 synonymous_variant aaC/aaT - LOW SNV MT-ND4L protein_coding - - - 4496 m.10746C>T 10746 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10746_C/T heter ENSG00000212907 synonymous_variant Cta/Tta - LOW SNV MT-ND4L protein_coding - - - 4497 m.10750A>G 10750 A G 26 0.003578310 1 0.000137627 7266 0.003715937 MT_10750_A/G homo&heter ENSG00000212907 missense_variant aAc/aGc rs372297272 MODERATE SNV MT-ND4L protein_coding tolerated(0.06) benign(0.056) - 4498 m.10751C>T 10751 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10751_C/T homo ENSG00000212907 synonymous_variant aaC/aaT - LOW SNV MT-ND4L protein_coding - - - 4499 m.10754A>C 10754 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10754_A/C homo ENSG00000212907 synonymous_variant ctA/ctC rs386419971 LOW SNV MT-ND4L protein_coding - - - 4500 m.10754A>G 10754 A G 30 0.004128819 0 0.000000000 7266 0.004128819 MT_10754_A/G homo ENSG00000212907 synonymous_variant ctA/ctG rs386419971 LOW SNV MT-ND4L protein_coding - - - 4501 m.10757C>G 10757 C G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_10757_C/G homo ENSG00000212907 synonymous_variant ctC/ctG - LOW SNV MT-ND4L protein_coding - - - 4502 m.10768A>G 10768 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10768_A/G homo ENSG00000198886 synonymous_variant aaA/aaG - LOW SNV MT-ND4 protein_coding - - - 4503 m.10769C>T 10769 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_10769_C/T homo ENSG00000198886 synonymous_variant Cta/Tta - LOW SNV MT-ND4 protein_coding - - - 4504 m.10771A>G 10771 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10771_A/G homo ENSG00000198886 synonymous_variant ctA/ctG rs1556423860 LOW SNV MT-ND4 protein_coding - - - 4505 m.10774C>T 10774 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10774_C/T homo ENSG00000198886 synonymous_variant atC/atT - LOW SNV MT-ND4 protein_coding - - - 4506 m.10775G>A 10775 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10775_G/A homo ENSG00000198886 missense_variant Gtc/Atc rs879015842 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(1) benign(0) - 4507 m.10780A>G 10780 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10780_A/G homo ENSG00000198886 synonymous_variant ccA/ccG - LOW SNV MT-ND4 protein_coding - - - 4508 m.10780A>T 10780 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10780_A/T homo ENSG00000198886 synonymous_variant ccA/ccT - LOW SNV MT-ND4 protein_coding - - - 4509 m.10783A>C 10783 A C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_10783_A/C homo ENSG00000198886 synonymous_variant acA/acC rs375360074 LOW SNV MT-ND4 protein_coding - - - 4510 m.10785T>C 10785 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10785_T/C homo ENSG00000198886 missense_variant aTt/aCt - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.2) benign(0.005) - 4511 m.10786T>C 10786 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10786_T/C homo ENSG00000198886 synonymous_variant atT/atC - LOW SNV MT-ND4 protein_coding - - - 4512 m.10789A>G 10789 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10789_A/G homo ENSG00000198886 synonymous_variant atA/atG - LOW SNV MT-ND4 protein_coding - - - 4513 m.10790T>C 10790 T C 17 0.002339664 0 0.000000000 7266 0.002339664 MT_10790_T/C homo ENSG00000198886 synonymous_variant Tta/Cta rs28488153 LOW SNV MT-ND4 protein_coding - - - 4514 m.10791T>C 10791 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10791_T/C heter ENSG00000198886 missense_variant tTa/tCa - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.997) - 4515 m.10792A>G 10792 A G 20 0.002752546 0 0.000000000 7266 0.002752546 MT_10792_A/G homo ENSG00000198886 synonymous_variant ttA/ttG rs1569484395 LOW SNV MT-ND4 protein_coding - - - 4516 m.10793C>T 10793 C T 23 0.003165428 1 0.000137627 7266 0.003303055 MT_10793_C/T homo&heter ENSG00000198886 synonymous_variant Cta/Tta rs1569484396 LOW SNV MT-ND4 protein_coding - - - 4517 m.10795A>G 10795 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10795_A/G heter ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4518 m.10798A>G 10798 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10798_A/G homo ENSG00000198886 synonymous_variant ccA/ccG rs1556423866 LOW SNV MT-ND4 protein_coding - - likely_benign 4519 m.10798A>T 10798 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10798_A/T homo ENSG00000198886 synonymous_variant ccA/ccT - LOW SNV MT-ND4 protein_coding - - - 4520 m.10800T>C 10800 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10800_T/C heter ENSG00000198886 missense_variant cTg/cCg - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 4521 m.10801G>A 10801 G A 8 0.001101018 0 0.000000000 7266 0.001101018 MT_10801_G/A homo ENSG00000198886 synonymous_variant ctG/ctA - LOW SNV MT-ND4 protein_coding - - - 4522 m.10807A>G 10807 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_10807_A/G homo ENSG00000198886 synonymous_variant tgA/tgG - LOW SNV MT-ND4 protein_coding - - - 4523 m.10810T>A 10810 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10810_T/A homo ENSG00000198886 synonymous_variant ctT/ctA - LOW SNV MT-ND4 protein_coding - - - 4524 m.10810T>C 10810 T C 256 0.035232590 0 0.000000000 7266 0.035232590 MT_10810_T/C homo ENSG00000198886 synonymous_variant ctT/ctC rs28358282 LOW SNV MT-ND4 protein_coding - - - 4525 m.10813C>T 10813 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_10813_C/T homo ENSG00000198886 synonymous_variant tcC/tcT - LOW SNV MT-ND4 protein_coding - - - 4526 m.10816A>G 10816 A G 21 0.002890173 0 0.000000000 7266 0.002890173 MT_10816_A/G homo ENSG00000198886 synonymous_variant aaA/aaG rs1569484398 LOW SNV MT-ND4 protein_coding - - - 4527 m.10819A>G 10819 A G 159 0.021882742 0 0.000000000 7266 0.021882742 MT_10819_A/G homo ENSG00000198886 synonymous_variant aaA/aaG rs28358283 LOW SNV MT-ND4 protein_coding - - - 4528 m.10822C>G 10822 C G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10822_C/G homo ENSG00000198886 missense_variant caC/caG - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.04) benign(0.134) - 4529 m.10822C>T 10822 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10822_C/T homo ENSG00000198886 synonymous_variant caC/caT rs879041592 LOW SNV MT-ND4 protein_coding - - - 4530 m.10825A>G 10825 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10825_A/G homo ENSG00000198886 synonymous_variant atA/atG rs879058859 LOW SNV MT-ND4 protein_coding - - - 4531 m.10828T>C 10828 T C 25 0.003440683 0 0.000000000 7266 0.003440683 MT_10828_T/C homo ENSG00000198886 synonymous_variant atT/atC rs1569484399 LOW SNV MT-ND4 protein_coding - - - 4532 m.10830G>A 10830 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10830_G/A heter ENSG00000198886 stop_gained tGa/tAa - HIGH SNV MT-ND4 protein_coding - - - 4533 m.10831A>G 10831 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10831_A/G homo ENSG00000198886 synonymous_variant tgA/tgG - LOW SNV MT-ND4 protein_coding - - - 4534 m.10834C>T 10834 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10834_C/T homo ENSG00000198886 synonymous_variant atC/atT rs386829113 LOW SNV MT-ND4 protein_coding - - - 4535 m.10837C>T 10837 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_10837_C/T homo ENSG00000198886 synonymous_variant aaC/aaT - LOW SNV MT-ND4 protein_coding - - - 4536 m.10845C>T 10845 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10845_C/T homo ENSG00000198886 missense_variant aCc/aTc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.39) probably_damaging(0.997) - 4537 m.10848A>G 10848 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10848_A/G heter ENSG00000198886 missense_variant cAc/cGc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.98) - 4538 m.10849C>T 10849 C T 7 0.000963391 1 0.000137627 7266 0.001101018 MT_10849_C/T homo&heter ENSG00000198886 synonymous_variant caC/caT - LOW SNV MT-ND4 protein_coding - - - 4539 m.10853C>T 10853 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10853_C/T homo ENSG00000198886 synonymous_variant Cta/Tta - LOW SNV MT-ND4 protein_coding - - - 4540 m.10854T>C 10854 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10854_T/C heter ENSG00000198886 missense_variant cTa/cCa - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 4541 m.10855A>G 10855 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10855_A/G homo ENSG00000198886 synonymous_variant ctA/ctG COSV62294149 LOW SNV MT-ND4 protein_coding - - - 4542 m.10858T>C 10858 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10858_T/C heter ENSG00000198886 synonymous_variant atT/atC - LOW SNV MT-ND4 protein_coding - - - 4543 m.10859A>G 10859 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10859_A/G homo ENSG00000198886 missense_variant Att/Gtt - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.04) possibly_damaging(0.885) - 4544 m.10861T>C 10861 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_10861_T/C homo ENSG00000198886 synonymous_variant atT/atC rs1556423868 LOW SNV MT-ND4 protein_coding - - - 4545 m.10864C>T 10864 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10864_C/T homo ENSG00000198886 synonymous_variant agC/agT - LOW SNV MT-ND4 protein_coding - - - 4546 m.10865A>C 10865 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10865_A/C heter ENSG00000198886 missense_variant Atc/Ctc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(1) benign(0.006) - 4547 m.10866T>C 10866 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10866_T/C heter ENSG00000198886 missense_variant aTc/aCc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.18) benign(0.025) - 4548 m.10867C>T 10867 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10867_C/T homo ENSG00000198886 synonymous_variant atC/atT - LOW SNV MT-ND4 protein_coding - - - 4549 m.10869T>C 10869 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_10869_T/C heter ENSG00000198886 missense_variant aTc/aCc COSV62294477 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.38) probably_damaging(0.98) - 4550 m.10870C>T 10870 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10870_C/T homo ENSG00000198886 synonymous_variant atC/atT - LOW SNV MT-ND4 protein_coding - - - 4551 m.10872CT>C 10872 CT C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10873_T/- heter ENSG00000198886 frameshift_variant ccT/cc - HIGH deletion MT-ND4 protein_coding - - - 4552 m.10873T>C 10873 T C 3770 0.518854941 0 0.000000000 7266 0.518854941 MT_10873_T/C homo ENSG00000198886 synonymous_variant ccT/ccC rs2857284 LOW SNV MT-ND4 protein_coding - - - 4553 m.10876A>G 10876 A G 24 0.003303055 0 0.000000000 7266 0.003303055 MT_10876_A/G homo ENSG00000198886 synonymous_variant ctA/ctG rs879036391 LOW SNV MT-ND4 protein_coding - - - 4554 m.10877C>T 10877 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10877_C/T homo ENSG00000198886 synonymous_variant Cta/Tta - LOW SNV MT-ND4 protein_coding - - - 4555 m.10882T>C 10882 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10882_T/C homo ENSG00000198886 synonymous_variant ttT/ttC rs28589650 LOW SNV MT-ND4 protein_coding - - - 4556 m.10891A>G 10891 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_10891_A/G homo ENSG00000198886 synonymous_variant caA/caG - LOW SNV MT-ND4 protein_coding - - - 4557 m.10893T>C 10893 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10893_T/C heter ENSG00000198886 missense_variant aTc/aCc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.58) benign(0) - 4558 m.10893T>G 10893 T G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10893_T/G heter ENSG00000198886 missense_variant aTc/aGc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.49) benign(0.027) - 4559 m.10894C>T 10894 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10894_C/T homo ENSG00000198886 synonymous_variant atC/atT - LOW SNV MT-ND4 protein_coding - - - 4560 m.10895A>G 10895 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10895_A/G homo ENSG00000198886 missense_variant Aac/Gac - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.38) benign(0.011) - 4561 m.10897C>T 10897 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_10897_C/T homo ENSG00000198886 synonymous_variant aaC/aaT rs1556423874 LOW SNV MT-ND4 protein_coding - - - 4562 m.10899A>G 10899 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_10899_A/G homo ENSG00000198886 missense_variant aAc/aGc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.19) benign(0.017) - 4563 m.10903C>T 10903 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_10903_C/T homo ENSG00000198886 synonymous_variant aaC/aaT - LOW SNV MT-ND4 protein_coding - - - 4564 m.10904C>T 10904 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_10904_C/T homo&heter ENSG00000198886 synonymous_variant Cta/Tta - LOW SNV MT-ND4 protein_coding - - - 4565 m.10906A>G 10906 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_10906_A/G homo&heter ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4566 m.10907T>C 10907 T C 8 0.001101018 2 0.000275255 7266 0.001376273 MT_10907_T/C homo&heter ENSG00000198886 missense_variant Ttt/Ctt rs879094052 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(1) benign(0) - 4567 m.10908T>A 10908 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10908_T/A homo ENSG00000198886 missense_variant tTt/tAt - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.8) benign(0) - 4568 m.10908T>C 10908 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_10908_T/C homo ENSG00000198886 missense_variant tTt/tCt - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.3) benign(0) - 4569 m.10909T>C 10909 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10909_T/C heter ENSG00000198886 synonymous_variant ttT/ttC rs1569484404 LOW SNV MT-ND4 protein_coding - - - 4570 m.10912C>T 10912 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10912_C/T homo ENSG00000198886 synonymous_variant agC/agT - LOW SNV MT-ND4 protein_coding - - - 4571 m.10914G>A 10914 G A 4 0.000550509 2 0.000275255 7266 0.000825764 MT_10914_G/A homo&heter ENSG00000198886 missense_variant tGt/tAt rs878931758,COSV62293897 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.48) benign(0) - 4572 m.10915T>C 10915 T C 110 0.015139004 0 0.000000000 7266 0.015139004 MT_10915_T/C homo ENSG00000198886 synonymous_variant tgT/tgC rs2857285 LOW SNV MT-ND4 protein_coding - - - 4573 m.10919C>A 10919 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10919_C/A homo ENSG00000198886 missense_variant Cca/Aca - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.41) benign(0.043) - 4574 m.10920C>T 10920 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_10920_C/T homo ENSG00000198886 missense_variant cCa/cTa rs1556423876 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.67) benign(0) - 4575 m.10922A>G 10922 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_10922_A/G heter ENSG00000198886 missense_variant Acc/Gcc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.33) benign(0.007) - 4576 m.10923C>T 10923 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10923_C/T homo ENSG00000198886 missense_variant aCc/aTc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.3) benign(0.018) - 4577 m.10927T>C 10927 T C 12 0.001651528 1 0.000137627 7266 0.001789155 MT_10927_T/C homo&heter ENSG00000198886 synonymous_variant ttT/ttC rs878989001 LOW SNV MT-ND4 protein_coding - - - 4578 m.10931T>C 10931 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10931_T/C homo ENSG00000198886 missense_variant Tcc/Ccc rs1569484408 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.04) probably_damaging(0.989) likely_benign,uncertain_significance 4579 m.10934G>A 10934 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10934_G/A heter ENSG00000198886 missense_variant Gac/Aac - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 4580 m.10936C>T 10936 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10936_C/T homo ENSG00000198886 synonymous_variant gaC/gaT - LOW SNV MT-ND4 protein_coding - - - 4581 m.10940C>T 10940 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10940_C/T homo ENSG00000198886 synonymous_variant Cta/Tta - LOW SNV MT-ND4 protein_coding - - - 4582 m.10946A>AC 10946 A AC 0 0.000000000 3 0.000412882 7266 0.000412882 MT_10947_-/C heter ENSG00000198886 frameshift_variant acc/aCcc - HIGH insertion MT-ND4 protein_coding - - - 4583 m.10951C>T 10951 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10951_C/T homo ENSG00000198886 synonymous_variant ccC/ccT - LOW SNV MT-ND4 protein_coding - - - 4584 m.10953T>C 10953 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10953_T/C heter ENSG00000198886 missense_variant cTc/cCc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 4585 m.10954C>T 10954 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10954_C/T homo ENSG00000198886 synonymous_variant ctC/ctT rs879247797 LOW SNV MT-ND4 protein_coding - - - 4586 m.10955C>T 10955 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_10955_C/T homo ENSG00000198886 synonymous_variant Cta/Tta - LOW SNV MT-ND4 protein_coding - - - 4587 m.10959T>C 10959 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10959_T/C heter ENSG00000198886 missense_variant aTa/aCa - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.18) probably_damaging(0.932) - 4588 m.10960A>G 10960 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10960_A/G homo ENSG00000198886 synonymous_variant atA/atG - LOW SNV MT-ND4 protein_coding - - - 4589 m.10961C>T 10961 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10961_C/T homo ENSG00000198886 synonymous_variant Cta/Tta - LOW SNV MT-ND4 protein_coding - - - 4590 m.10963A>G 10963 A G 4 0.000550509 1 0.000137627 7266 0.000688137 MT_10963_A/G homo&heter ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4591 m.10966T>C 10966 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_10966_T/C homo ENSG00000198886 synonymous_variant acT/acC - LOW SNV MT-ND4 protein_coding - - - 4592 m.10967A>G 10967 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10967_A/G heter ENSG00000198886 missense_variant Acc/Gcc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.23) probably_damaging(0.988) - 4593 m.10969C>T 10969 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_10969_C/T homo ENSG00000198886 synonymous_variant acC/acT - LOW SNV MT-ND4 protein_coding - - - 4594 m.10972A>G 10972 A G 16 0.002202037 0 0.000000000 7266 0.002202037 MT_10972_A/G homo ENSG00000198886 synonymous_variant tgA/tgG - LOW SNV MT-ND4 protein_coding - - - 4595 m.10975C>T 10975 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10975_C/T homo ENSG00000198886 synonymous_variant ctC/ctT - LOW SNV MT-ND4 protein_coding - - - 4596 m.10976C>T 10976 C T 40 0.005505092 0 0.000000000 7266 0.005505092 MT_10976_C/T homo ENSG00000198886 synonymous_variant Cta/Tta COSV62294422 LOW SNV MT-ND4 protein_coding - - - 4597 m.10978A>G 10978 A G 24 0.003303055 0 0.000000000 7266 0.003303055 MT_10978_A/G homo ENSG00000198886 synonymous_variant ctA/ctG rs1556423879,COSV62293944 LOW SNV MT-ND4 protein_coding - - - 4598 m.10990C>T 10990 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_10990_C/T homo ENSG00000198886 synonymous_variant atC/atT - LOW SNV MT-ND4 protein_coding - - - 4599 m.10993G>A 10993 G A 13 0.001789155 0 0.000000000 7266 0.001789155 MT_10993_G/A homo ENSG00000198886 synonymous_variant atG/atA rs373526008 LOW SNV MT-ND4 protein_coding - - - 4600 m.10993G>T 10993 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_10993_G/T homo ENSG00000198886 missense_variant atG/atT - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.58) benign(0.062) - 4601 m.10994G>A 10994 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_10994_G/A heter ENSG00000198886 missense_variant Gca/Aca COSV62293679 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.995) - 4602 m.11002A>G 11002 A G 110 0.015139004 0 0.000000000 7266 0.015139004 MT_11002_A/G homo ENSG00000198886 synonymous_variant caA/caG rs386829114 LOW SNV MT-ND4 protein_coding - - - 4603 m.11004G>A 11004 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11004_G/A homo ENSG00000198886 missense_variant cGc/cAc rs1556423880 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.29) benign(0) - 4604 m.11009T>C 11009 T C 8 0.001101018 1 0.000137627 7266 0.001238646 MT_11009_T/C homo&heter ENSG00000198886 synonymous_variant Tta/Cta rs878978027 LOW SNV MT-ND4 protein_coding - - - 4605 m.11011A>G 11011 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11011_A/G homo ENSG00000198886 synonymous_variant ttA/ttG - LOW SNV MT-ND4 protein_coding - - - 4606 m.11015A>G 11015 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_11015_A/G homo ENSG00000198886 missense_variant Agt/Ggt - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.07) benign(0.019) - 4607 m.11015A>T 11015 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11015_A/T heter ENSG00000198886 missense_variant Agt/Tgt - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.02) possibly_damaging(0.469) - 4608 m.11016G>A 11016 G A 61 0.008395266 2 0.000275255 7266 0.008670520 MT_11016_G/A homo&heter ENSG00000198886 missense_variant aGt/aAt rs28594904 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.63) benign(0) - 4609 m.11017T>C 11017 T C 15 0.002064410 1 0.000137627 7266 0.002202037 MT_11017_T/C homo&heter ENSG00000198886 synonymous_variant agT/agC rs878902408 LOW SNV MT-ND4 protein_coding - - - 4610 m.11020A>G 11020 A G 8 0.001101018 1 0.000137627 7266 0.001238646 MT_11020_A/G homo&heter ENSG00000198886 synonymous_variant gaA/gaG rs1569484415,COSV62294575 LOW SNV MT-ND4 protein_coding - - - 4611 m.11023A>G 11023 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_11023_A/G homo ENSG00000198886 synonymous_variant ccA/ccG - LOW SNV MT-ND4 protein_coding - - - 4612 m.11024C>T 11024 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11024_C/T homo ENSG00000198886 synonymous_variant Cta/Tta rs1556423882 LOW SNV MT-ND4 protein_coding - - - 4613 m.11025T>C 11025 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_11025_T/C homo ENSG00000198886 missense_variant cTa/cCa rs201300253 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.41) benign(0.001) - 4614 m.11026A>G 11026 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_11026_A/G homo&heter ENSG00000198886 synonymous_variant ctA/ctG rs1556423883 LOW SNV MT-ND4 protein_coding - - - 4615 m.11029A>G 11029 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11029_A/G heter ENSG00000198886 synonymous_variant tcA/tcG - LOW SNV MT-ND4 protein_coding - - - 4616 m.11031G>A 11031 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11031_G/A heter ENSG00000198886 missense_variant cGa/cAa - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.1) probably_damaging(0.985) - 4617 m.11031GA>G 11031 GA G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_11032_A/- heter ENSG00000198886 frameshift_variant cgA/cg rs1556423884 HIGH deletion MT-ND4 protein_coding - - - 4618 m.11038A>G 11038 A G 16 0.002202037 1 0.000137627 7266 0.002339664 MT_11038_A/G homo&heter ENSG00000198886 synonymous_variant aaA/aaG rs386829117,COSV99053422 LOW SNV MT-ND4 protein_coding - - - 4619 m.11039C>T 11039 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11039_C/T homo ENSG00000198886 missense_variant Ctc/Ttc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.07) probably_damaging(0.997) - 4620 m.11040T>C 11040 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11040_T/C heter ENSG00000198886 missense_variant cTc/cCc COSV62293285 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.998) - 4621 m.11041C>T 11041 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11041_C/T homo ENSG00000198886 synonymous_variant ctC/ctT - LOW SNV MT-ND4 protein_coding - - - 4622 m.11046T>C 11046 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11046_T/C heter ENSG00000198886 missense_variant cTc/cCc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 4623 m.11047C>A 11047 C A 9 0.001238646 0 0.000000000 7266 0.001238646 MT_11047_C/A homo ENSG00000198886 synonymous_variant ctC/ctA - LOW SNV MT-ND4 protein_coding - - - 4624 m.11050T>C 11050 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11050_T/C homo ENSG00000198886 synonymous_variant tcT/tcC - LOW SNV MT-ND4 protein_coding - - - 4625 m.11053A>G 11053 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11053_A/G homo ENSG00000198886 synonymous_variant atA/atG rs1556423886 LOW SNV MT-ND4 protein_coding - - - 4626 m.11054C>T 11054 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11054_C/T homo ENSG00000198886 synonymous_variant Cta/Tta - LOW SNV MT-ND4 protein_coding - - - 4627 m.11057A>G 11057 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_11057_A/G homo&heter ENSG00000198886 missense_variant Atc/Gtc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.26) possibly_damaging(0.885) - 4628 m.11058T>C 11058 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11058_T/C heter ENSG00000198886 missense_variant aTc/aCc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.17) probably_damaging(0.98) - 4629 m.11059C>T 11059 C T 37 0.005092210 0 0.000000000 7266 0.005092210 MT_11059_C/T homo ENSG00000198886 synonymous_variant atC/atT - LOW SNV MT-ND4 protein_coding - - - 4630 m.11061C>T 11061 C T 34 0.004679328 0 0.000000000 7266 0.004679328 MT_11061_C/T homo ENSG00000198886 missense_variant tCc/tTc rs879204439 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.13) benign(0.125) - 4631 m.11065A>G 11065 A G 54 0.007431874 0 0.000000000 7266 0.007431874 MT_11065_A/G homo ENSG00000198886 synonymous_variant ctA/ctG rs1556423890 LOW SNV MT-ND4 protein_coding - - - 4632 m.11068A>G 11068 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11068_A/G heter ENSG00000198886 synonymous_variant caA/caG - LOW SNV MT-ND4 protein_coding - - - 4633 m.11069A>G 11069 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11069_A/G homo ENSG00000198886 missense_variant Atc/Gtc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.38) benign(0.001) - 4634 m.11071C>T 11071 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11071_C/T homo ENSG00000198886 synonymous_variant atC/atT rs1556423891 LOW SNV MT-ND4 protein_coding - - - 4635 m.11074C>T 11074 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11074_C/T homo ENSG00000198886 synonymous_variant tcC/tcT - LOW SNV MT-ND4 protein_coding - - - 4636 m.11075T>C 11075 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_11075_T/C homo ENSG00000198886 synonymous_variant Tta/Cta rs370409545 LOW SNV MT-ND4 protein_coding - - - 4637 m.11077A>G 11077 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_11077_A/G homo&heter ENSG00000198886 synonymous_variant ttA/ttG - LOW SNV MT-ND4 protein_coding - - - 4638 m.11080T>C 11080 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11080_T/C homo ENSG00000198886 synonymous_variant atT/atC - LOW SNV MT-ND4 protein_coding - - - 4639 m.11083A>G 11083 A G 27 0.003715937 0 0.000000000 7266 0.003715937 MT_11083_A/G homo ENSG00000198886 synonymous_variant atA/atG rs1556423893 LOW SNV MT-ND4 protein_coding - - - 4640 m.11084A>G 11084 A G 51 0.007018993 0 0.000000000 7266 0.007018993 MT_11084_A/G homo ENSG00000198886 missense_variant Aca/Gca rs199476113 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(1) probably_damaging(0.988) benign,pathogenic 4641 m.11087T>C 11087 T C 11 0.001513900 2 0.000275255 7266 0.001789155 MT_11087_T/C homo&heter ENSG00000198886 missense_variant Ttc/Ctc rs28433448 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.917) - 4642 m.11089C>T 11089 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11089_C/T homo ENSG00000198886 synonymous_variant ttC/ttT - LOW SNV MT-ND4 protein_coding - - - 4643 m.11092A>G 11092 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_11092_A/G homo ENSG00000198886 synonymous_variant acA/acG - LOW SNV MT-ND4 protein_coding - - - 4644 m.11093G>A 11093 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11093_G/A heter ENSG00000198886 missense_variant Gcc/Acc COSV62293810 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.03) possibly_damaging(0.728) - 4645 m.11095C>T 11095 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11095_C/T homo ENSG00000198886 synonymous_variant gcC/gcT - LOW SNV MT-ND4 protein_coding - - - 4646 m.11101A>G 11101 A G 28 0.003853565 0 0.000000000 7266 0.003853565 MT_11101_A/G homo ENSG00000198886 synonymous_variant gaA/gaG rs879228903 LOW SNV MT-ND4 protein_coding - - - 4647 m.11101A>T 11101 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11101_A/T homo ENSG00000198886 missense_variant gaA/gaT - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.988) - 4648 m.11105A>G 11105 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11105_A/G heter ENSG00000198886 missense_variant Atc/Gtc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.03) benign(0.024) - 4649 m.11107C>T 11107 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11107_C/T homo ENSG00000198886 synonymous_variant atC/atT - LOW SNV MT-ND4 protein_coding - - - 4650 m.11116T>C 11116 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_11116_T/C homo ENSG00000198886 synonymous_variant taT/taC - LOW SNV MT-ND4 protein_coding - - - 4651 m.11117A>G 11117 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11117_A/G homo ENSG00000198886 missense_variant Atc/Gtc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.16) benign(0.003) - 4652 m.11118T>C 11118 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11118_T/C heter ENSG00000198886 missense_variant aTc/aCc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) benign(0.191) - 4653 m.11119C>T 11119 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11119_C/T homo ENSG00000198886 synonymous_variant atC/atT - LOW SNV MT-ND4 protein_coding - - - 4654 m.11128A>G 11128 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11128_A/G homo ENSG00000198886 synonymous_variant gaA/gaG - LOW SNV MT-ND4 protein_coding - - - 4655 m.11129A>G 11129 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11129_A/G homo ENSG00000198886 missense_variant Acc/Gcc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(1) benign(0.003) - 4656 m.11131C>T 11131 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_11131_C/T homo&heter ENSG00000198886 synonymous_variant acC/acT - LOW SNV MT-ND4 protein_coding - - - 4657 m.11137T>C 11137 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11137_T/C homo ENSG00000198886 synonymous_variant ctT/ctC rs1556423897 LOW SNV MT-ND4 protein_coding - - - 4658 m.11138A>G 11138 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11138_A/G heter ENSG00000198886 missense_variant Atc/Gtc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.14) possibly_damaging(0.885) - 4659 m.11139TC>T 11139 TC T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11140_C/- heter ENSG00000198886 frameshift_variant atC/at - HIGH deletion MT-ND4 protein_coding - - - 4660 m.11140C>T 11140 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11140_C/T homo ENSG00000198886 synonymous_variant atC/atT - LOW SNV MT-ND4 protein_coding - - - 4661 m.11143C>T 11143 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_11143_C/T homo ENSG00000198886 synonymous_variant ccC/ccT rs1556423898 LOW SNV MT-ND4 protein_coding - - - 4662 m.11144A>G 11144 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_11144_A/G homo&heter ENSG00000198886 missense_variant Acc/Gcc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.988) - 4663 m.11146C>T 11146 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11146_C/T homo ENSG00000198886 synonymous_variant acC/acT rs3134800 LOW SNV MT-ND4 protein_coding - - - 4664 m.11147T>C 11147 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11147_T/C homo ENSG00000198886 synonymous_variant Ttg/Ctg - LOW SNV MT-ND4 protein_coding - - - 4665 m.11149G>A 11149 G A 27 0.003715937 0 0.000000000 7266 0.003715937 MT_11149_G/A homo ENSG00000198886 synonymous_variant ttG/ttA - LOW SNV MT-ND4 protein_coding - - - 4666 m.11150G>A 11150 G A 35 0.004816956 0 0.000000000 7266 0.004816956 MT_11150_G/A homo ENSG00000198886 missense_variant Gct/Act rs386829118 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) benign(0.03) - 4667 m.11151C>T 11151 C T 39 0.005367465 0 0.000000000 7266 0.005367465 MT_11151_C/T homo ENSG00000198886 missense_variant gCt/gTt rs1556423903 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.12) benign(0) - 4668 m.11152T>C 11152 T C 16 0.002202037 1 0.000137627 7266 0.002339664 MT_11152_T/C homo&heter ENSG00000198886 synonymous_variant gcT/gcC rs879141836 LOW SNV MT-ND4 protein_coding - - - 4669 m.11154T>C 11154 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11154_T/C heter ENSG00000198886 missense_variant aTc/aCc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.98) - 4670 m.11164A>G 11164 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_11164_A/G homo ENSG00000198886 synonymous_variant cgA/cgG rs1569484423 LOW SNV MT-ND4 protein_coding - - - 4671 m.11167A>G 11167 A G 9 0.001238646 1 0.000137627 7266 0.001376273 MT_11167_A/G homo&heter ENSG00000198886 synonymous_variant tgA/tgG rs377109096 LOW SNV MT-ND4 protein_coding - - likely_benign 4672 m.11169G>A 11169 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11169_G/A heter ENSG00000198886 missense_variant gGc/gAc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 4673 m.11170C>T 11170 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11170_C/T homo ENSG00000198886 synonymous_variant ggC/ggT - LOW SNV MT-ND4 protein_coding - - - 4674 m.11172A>G 11172 A G 15 0.002064410 0 0.000000000 7266 0.002064410 MT_11172_A/G homo ENSG00000198886 missense_variant aAc/aGc rs2853489 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.04) probably_damaging(0.988) - 4675 m.11173C>T 11173 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11173_C/T homo ENSG00000198886 synonymous_variant aaC/aaT - LOW SNV MT-ND4 protein_coding - - - 4676 m.11176G>A 11176 G A 105 0.014450867 0 0.000000000 7266 0.014450867 MT_11176_G/A homo ENSG00000198886 synonymous_variant caG/caA rs2853490 LOW SNV MT-ND4 protein_coding - - - 4677 m.11177C>T 11177 C T 136 0.018717314 0 0.000000000 7266 0.018717314 MT_11177_C/T homo ENSG00000198886 missense_variant Cca/Tca rs28358284 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.03) probably_damaging(0.996) - 4678 m.11179A>G 11179 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11179_A/G homo ENSG00000198886 synonymous_variant ccA/ccG - LOW SNV MT-ND4 protein_coding - - - 4679 m.11180G>A 11180 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11180_G/A heter ENSG00000198886 missense_variant Gaa/Aaa - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.988) - 4680 m.11182A>G 11182 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11182_A/G homo ENSG00000198886 synonymous_variant gaA/gaG - LOW SNV MT-ND4 protein_coding - - - 4681 m.11184G>A 11184 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11184_G/A heter ENSG00000198886 missense_variant cGc/cAc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.996) - 4682 m.11188G>A 11188 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11188_G/A homo ENSG00000198886 synonymous_variant ctG/ctA - LOW SNV MT-ND4 protein_coding - - - 4683 m.11190A>G 11190 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11190_A/G homo ENSG00000198886 missense_variant aAc/aGc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.03) probably_damaging(0.988) - 4684 m.11195G>A 11195 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_11195_G/A heter ENSG00000198886 missense_variant Ggc/Agc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.05) probably_damaging(0.998) - 4685 m.11197C>G 11197 C G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11197_C/G heter ENSG00000198886 synonymous_variant ggC/ggG - LOW SNV MT-ND4 protein_coding - - - 4686 m.11197C>T 11197 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11197_C/T homo ENSG00000198886 synonymous_variant ggC/ggT rs75214962 LOW SNV MT-ND4 protein_coding - - - 4687 m.11200A>G 11200 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11200_A/G homo ENSG00000198886 synonymous_variant acA/acG - LOW SNV MT-ND4 protein_coding - - - 4688 m.11203C>T 11203 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11203_C/T homo ENSG00000198886 synonymous_variant taC/taT - LOW SNV MT-ND4 protein_coding - - - 4689 m.11204T>C 11204 T C 30 0.004128819 1 0.000137627 7266 0.004266446 MT_11204_T/C homo&heter ENSG00000198886 missense_variant Ttc/Ctc rs201803443 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.01) benign(0.001) - 4690 m.11206C>A 11206 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11206_C/A homo ENSG00000198886 missense_variant ttC/ttA rs28756874 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.01) benign(0.001) - 4691 m.11206C>T 11206 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11206_C/T homo ENSG00000198886 synonymous_variant ttC/ttT - LOW SNV MT-ND4 protein_coding - - - 4692 m.11209A>G 11209 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11209_A/G homo ENSG00000198886 synonymous_variant ctA/ctG rs386829121 LOW SNV MT-ND4 protein_coding - - - 4693 m.11212C>T 11212 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11212_C/T homo ENSG00000198886 synonymous_variant ttC/ttT rs1556423909 LOW SNV MT-ND4 protein_coding - - - 4694 m.11215C>T 11215 C T 106 0.014588494 1 0.000137627 7266 0.014726122 MT_11215_C/T homo&heter ENSG00000198886 synonymous_variant taC/taT rs386419997,COSV62293352 LOW SNV MT-ND4 protein_coding - - - 4695 m.11216A>G 11216 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11216_A/G heter ENSG00000198886 missense_variant Acc/Gcc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.988) - 4696 m.11218C>T 11218 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_11218_C/T homo&heter ENSG00000198886 synonymous_variant acC/acT - LOW SNV MT-ND4 protein_coding - - - 4697 m.11221A>G 11221 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11221_A/G homo ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4698 m.11225G>A 11225 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_11225_G/A heter ENSG00000198886 missense_variant Ggc/Agc COSV62292944 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 4699 m.11227C>T 11227 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11227_C/T homo ENSG00000198886 synonymous_variant ggC/ggT rs879006904 LOW SNV MT-ND4 protein_coding - - - 4700 m.11230C>T 11230 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11230_C/T homo ENSG00000198886 synonymous_variant tcC/tcT - LOW SNV MT-ND4 protein_coding - - - 4701 m.11232T>C 11232 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11232_T/C heter ENSG00000198886 missense_variant cTt/cCt - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 4702 m.11233T>C 11233 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_11233_T/C homo&heter ENSG00000198886 synonymous_variant ctT/ctC rs1556423912 LOW SNV MT-ND4 protein_coding - - - 4703 m.11239A>G 11239 A G 32 0.004404074 0 0.000000000 7266 0.004404074 MT_11239_A/G homo ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4704 m.11245C>T 11245 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11245_C/T heter ENSG00000198886 synonymous_variant atC/atT - LOW SNV MT-ND4 protein_coding - - - 4705 m.11248A>G 11248 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11248_A/G homo ENSG00000198886 synonymous_variant gcA/gcG - LOW SNV MT-ND4 protein_coding - - - 4706 m.11249C>T 11249 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11249_C/T homo ENSG00000198886 synonymous_variant Cta/Tta - LOW SNV MT-ND4 protein_coding - - - 4707 m.11251A>G 11251 A G 145 0.019955959 0 0.000000000 7266 0.019955959 MT_11251_A/G homo ENSG00000198886 synonymous_variant ctA/ctG rs869096886,COSV62293827 LOW SNV MT-ND4 protein_coding - - - 4708 m.11253T>C 11253 T C 20 0.002752546 2 0.000275255 7266 0.003027801 MT_11253_T/C homo&heter ENSG00000198886 missense_variant aTt/aCt rs200145866,COSV62294075 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.15) benign(0.005) benign,pathogenic 4709 m.11254T>C 11254 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_11254_T/C homo ENSG00000198886 synonymous_variant atT/atC - LOW SNV MT-ND4 protein_coding - - - 4710 m.11255T>C 11255 T C 4 0.000550509 1 0.000137627 7266 0.000688137 MT_11255_T/C homo&heter ENSG00000198886 missense_variant Tac/Cac rs1556423916 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.2) benign(0) - 4711 m.11257C>T 11257 C T 19 0.002614919 0 0.000000000 7266 0.002614919 MT_11257_C/T homo ENSG00000198886 synonymous_variant taC/taT rs377469212 LOW SNV MT-ND4 protein_coding - - - 4712 m.11260T>C 11260 T C 9 0.001238646 1 0.000137627 7266 0.001376273 MT_11260_T/C homo&heter ENSG00000198886 synonymous_variant acT/acC rs386829124 LOW SNV MT-ND4 protein_coding - - - 4713 m.11266C>T 11266 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_11266_C/T homo ENSG00000198886 synonymous_variant aaC/aaT - LOW SNV MT-ND4 protein_coding - - - 4714 m.11272A>G 11272 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11272_A/G homo ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4715 m.11274G>A 11274 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11274_G/A heter ENSG00000198886 missense_variant gGc/gAc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 4716 m.11278A>G 11278 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11278_A/G homo ENSG00000198886 synonymous_variant tcA/tcG - LOW SNV MT-ND4 protein_coding - - - 4717 m.11286T>C 11286 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11286_T/C homo ENSG00000198886 missense_variant aTt/aCt - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.15) probably_damaging(0.98) - 4718 m.11287T>C 11287 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_11287_T/C homo ENSG00000198886 synonymous_variant atT/atC rs386829125 LOW SNV MT-ND4 protein_coding - - - 4719 m.11288C>T 11288 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11288_C/T homo ENSG00000198886 synonymous_variant Cta/Tta rs879102161 LOW SNV MT-ND4 protein_coding - - - 4720 m.11290A>G 11290 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11290_A/G homo ENSG00000198886 synonymous_variant ctA/ctG rs1556423923 LOW SNV MT-ND4 protein_coding - - - 4721 m.11293A>G 11293 A G 14 0.001926782 0 0.000000000 7266 0.001926782 MT_11293_A/G homo ENSG00000198886 synonymous_variant ctA/ctG rs386829126 LOW SNV MT-ND4 protein_coding - - - 4722 m.11296C>T 11296 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11296_C/T homo ENSG00000198886 synonymous_variant ctC/ctT rs1556423925 LOW SNV MT-ND4 protein_coding - - - 4723 m.11299T>C 11299 T C 60 0.008257638 4 0.000550509 7266 0.008808148 MT_11299_T/C homo&heter ENSG00000198886 synonymous_variant acT/acC rs28358285 LOW SNV MT-ND4 protein_coding - - - 4724 m.11302C>T 11302 C T 17 0.002339664 0 0.000000000 7266 0.002339664 MT_11302_C/T homo ENSG00000198886 synonymous_variant ctC/ctT rs1569484430 LOW SNV MT-ND4 protein_coding - - - 4725 m.11305T>C 11305 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_11305_T/C homo&heter ENSG00000198886 synonymous_variant acT/acC - LOW SNV MT-ND4 protein_coding - - - 4726 m.11308C>T 11308 C T 12 0.001651528 0 0.000000000 7266 0.001651528 MT_11308_C/T homo ENSG00000198886 synonymous_variant gcC/gcT rs371426284 LOW SNV MT-ND4 protein_coding - - - 4727 m.11311A>G 11311 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11311_A/G homo ENSG00000198886 synonymous_variant caA/caG - LOW SNV MT-ND4 protein_coding - - - 4728 m.11314A>G 11314 A G 30 0.004128819 1 0.000137627 7266 0.004266446 MT_11314_A/G homo&heter ENSG00000198886 synonymous_variant gaA/gaG rs386829128 LOW SNV MT-ND4 protein_coding - - - 4729 m.11317A>G 11317 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11317_A/G homo ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4730 m.11318T>C 11318 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_11318_T/C homo&heter ENSG00000198886 missense_variant Tca/Cca - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.35) benign(0) - 4731 m.11323C>T 11323 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_11323_C/T homo ENSG00000198886 synonymous_variant aaC/aaT - LOW SNV MT-ND4 protein_coding - - - 4732 m.11326C>T 11326 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11326_C/T homo ENSG00000198886 synonymous_variant tcC/tcT - LOW SNV MT-ND4 protein_coding - - - 4733 m.11329A>G 11329 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11329_A/G homo ENSG00000198886 synonymous_variant tgA/tgG - LOW SNV MT-ND4 protein_coding - - - 4734 m.11330G>A 11330 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11330_G/A heter ENSG00000198886 missense_variant Gcc/Acc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.23) benign(0.134) - 4735 m.11332C>T 11332 C T 26 0.003578310 0 0.000000000 7266 0.003578310 MT_11332_C/T homo ENSG00000198886 synonymous_variant gcC/gcT rs55714831 LOW SNV MT-ND4 protein_coding - - - 4736 m.11334A>G 11334 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_11334_A/G heter ENSG00000198886 missense_variant aAc/aGc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.21) probably_damaging(0.988) - 4737 m.11335C>T 11335 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_11335_C/T homo ENSG00000198886 synonymous_variant aaC/aaT rs2853491 LOW SNV MT-ND4 protein_coding - - - 4738 m.11337A>G 11337 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11337_A/G homo ENSG00000198886 missense_variant aAc/aGc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.77) benign(0.017) - 4739 m.11339T>C 11339 T C 21 0.002890173 0 0.000000000 7266 0.002890173 MT_11339_T/C homo ENSG00000198886 synonymous_variant Tta/Cta rs55944643 LOW SNV MT-ND4 protein_coding - - - 4740 m.11341A>G 11341 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11341_A/G homo ENSG00000198886 synonymous_variant ttA/ttG - LOW SNV MT-ND4 protein_coding - - - 4741 m.11344A>G 11344 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11344_A/G homo ENSG00000198886 synonymous_variant atA/atG - LOW SNV MT-ND4 protein_coding - - - 4742 m.11346G>A 11346 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11346_G/A heter ENSG00000198886 stop_gained tGa/tAa - HIGH SNV MT-ND4 protein_coding - - - 4743 m.11347A>G 11347 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11347_A/G homo ENSG00000198886 synonymous_variant tgA/tgG - LOW SNV MT-ND4 protein_coding - - - 4744 m.11350A>G 11350 A G 14 0.001926782 0 0.000000000 7266 0.001926782 MT_11350_A/G homo ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4745 m.11351G>A 11351 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_11351_G/A heter ENSG00000198886 missense_variant Gct/Act - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.995) - 4746 m.11353T>C 11353 T C 33 0.004541701 0 0.000000000 7266 0.004541701 MT_11353_T/C homo ENSG00000198886 synonymous_variant gcT/gcC rs879061542 LOW SNV MT-ND4 protein_coding - - - 4747 m.11355A>G 11355 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11355_A/G homo ENSG00000198886 missense_variant tAc/tGc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(1) benign(0.007) - 4748 m.11355A>T 11355 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11355_A/T homo ENSG00000198886 missense_variant tAc/tTc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.02) benign(0.294) - 4749 m.11359A>G 11359 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11359_A/G homo ENSG00000198886 synonymous_variant acA/acG - LOW SNV MT-ND4 protein_coding - - - 4750 m.11360A>G 11360 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11360_A/G homo ENSG00000198886 missense_variant Ata/Gta rs878928689 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.12) possibly_damaging(0.77) uncertain_significance 4751 m.11361T>C 11361 T C 2 0.000275255 3 0.000412882 7266 0.000688137 MT_11361_T/C homo&heter ENSG00000198886 missense_variant aTa/aCa - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.12) probably_damaging(0.932) - 4752 m.11362A>G 11362 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_11362_A/G homo ENSG00000198886 synonymous_variant atA/atG rs878886289 LOW SNV MT-ND4 protein_coding - - - 4753 m.11363G>A 11363 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_11363_G/A homo&heter ENSG00000198886 missense_variant Gct/Act - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 4754 m.11365T>C 11365 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11365_T/C homo ENSG00000198886 synonymous_variant gcT/gcC rs28609979 LOW SNV MT-ND4 protein_coding - - - 4755 m.11368T>C 11368 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_11368_T/C homo ENSG00000198886 synonymous_variant ttT/ttC - LOW SNV MT-ND4 protein_coding - - - 4756 m.11371A>G 11371 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11371_A/G homo ENSG00000198886 synonymous_variant atA/atG rs878980270 LOW SNV MT-ND4 protein_coding - - - 4757 m.11374A>G 11374 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11374_A/G homo ENSG00000198886 synonymous_variant gtA/gtG - LOW SNV MT-ND4 protein_coding - - - 4758 m.11377G>A 11377 G A 29 0.003991192 1 0.000137627 7266 0.004128819 MT_11377_G/A homo&heter ENSG00000198886 synonymous_variant aaG/aaA rs193302938 LOW SNV MT-ND4 protein_coding - - - 4759 m.11380A>G 11380 A G 33 0.004541701 1 0.000137627 7266 0.004679328 MT_11380_A/G homo&heter ENSG00000198886 synonymous_variant atA/atG - LOW SNV MT-ND4 protein_coding - - - 4760 m.11383T>C 11383 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_11383_T/C homo ENSG00000198886 synonymous_variant ccT/ccC rs1556423938,COSV62294132 LOW SNV MT-ND4 protein_coding - - - 4761 m.11386T>C 11386 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_11386_T/C homo ENSG00000198886 synonymous_variant ctT/ctC rs1556423940 LOW SNV MT-ND4 protein_coding - - - 4762 m.11389C>T 11389 C T 8 0.001101018 1 0.000137627 7266 0.001238646 MT_11389_C/T homo&heter ENSG00000198886 synonymous_variant taC/taT rs1556423942 LOW SNV MT-ND4 protein_coding - - - 4763 m.11392A>C 11392 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11392_A/C homo ENSG00000198886 synonymous_variant ggA/ggC - LOW SNV MT-ND4 protein_coding - - - 4764 m.11392A>G 11392 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11392_A/G heter ENSG00000198886 synonymous_variant ggA/ggG - LOW SNV MT-ND4 protein_coding - - - 4765 m.11395C>T 11395 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11395_C/T homo ENSG00000198886 synonymous_variant ctC/ctT - LOW SNV MT-ND4 protein_coding - - - 4766 m.11398C>T 11398 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11398_C/T homo ENSG00000198886 synonymous_variant caC/caT rs1556423943 LOW SNV MT-ND4 protein_coding - - - 4767 m.11401A>G 11401 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11401_A/G heter ENSG00000198886 synonymous_variant ttA/ttG - LOW SNV MT-ND4 protein_coding - - - 4768 m.11404A>G 11404 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_11404_A/G homo ENSG00000198886 synonymous_variant tgA/tgG rs1556423945 LOW SNV MT-ND4 protein_coding - - - 4769 m.11407C>T 11407 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_11407_C/T homo ENSG00000198886 synonymous_variant ctC/ctT - LOW SNV MT-ND4 protein_coding - - - 4770 m.11408C>T 11408 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11408_C/T heter ENSG00000198886 missense_variant Cct/Tct - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.996) - 4771 m.11410T>C 11410 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_11410_T/C homo ENSG00000198886 synonymous_variant ccT/ccC rs1556423947 LOW SNV MT-ND4 protein_coding - - - 4772 m.11416C>T 11416 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11416_C/T homo ENSG00000198886 synonymous_variant gcC/gcT - LOW SNV MT-ND4 protein_coding - - - 4773 m.11419T>C 11419 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11419_T/C homo ENSG00000198886 synonymous_variant caT/caC - LOW SNV MT-ND4 protein_coding - - - 4774 m.11422C>T 11422 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_11422_C/T homo ENSG00000198886 synonymous_variant gtC/gtT - LOW SNV MT-ND4 protein_coding - - - 4775 m.11423G>A 11423 G A 0 0.000000000 3 0.000412882 7266 0.000412882 MT_11423_G/A heter ENSG00000198886 missense_variant Gaa/Aaa - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.988) - 4776 m.11428C>A 11428 C A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11428_C/A homo ENSG00000198886 synonymous_variant gcC/gcA - LOW SNV MT-ND4 protein_coding - - - 4777 m.11428C>T 11428 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11428_C/T homo ENSG00000198886 synonymous_variant gcC/gcT rs1057520176 LOW SNV MT-ND4 protein_coding - - likely_benign 4778 m.11431C>T 11431 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11431_C/T heter ENSG00000198886 synonymous_variant ccC/ccT - LOW SNV MT-ND4 protein_coding - - - 4779 m.11432A>G 11432 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11432_A/G heter ENSG00000198886 missense_variant Atc/Gtc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.17) possibly_damaging(0.885) - 4780 m.11435G>A 11435 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11435_G/A heter ENSG00000198886 missense_variant Gct/Act - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 4781 m.11437T>C 11437 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_11437_T/C homo ENSG00000198886 synonymous_variant gcT/gcC rs1556423949 LOW SNV MT-ND4 protein_coding - - - 4782 m.11440G>A 11440 G A 84 0.011560694 0 0.000000000 7266 0.011560694 MT_11440_G/A homo ENSG00000198886 synonymous_variant ggG/ggA rs386829130 LOW SNV MT-ND4 protein_coding - - - 4783 m.11440G>C 11440 G C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11440_G/C homo ENSG00000198886 synonymous_variant ggG/ggC - LOW SNV MT-ND4 protein_coding - - - 4784 m.11447G>A 11447 G A 10 0.001376273 1 0.000137627 7266 0.001513900 MT_11447_G/A homo&heter ENSG00000198886 missense_variant Gta/Ata rs2853492 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) benign(0.009) - 4785 m.11453G>A 11453 G A 1 0.000137627 2 0.000275255 7266 0.000412882 MT_11453_G/A homo&heter ENSG00000198886 missense_variant Gcc/Acc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 4786 m.11455C>T 11455 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11455_C/T homo ENSG00000198886 synonymous_variant gcC/gcT - LOW SNV MT-ND4 protein_coding - - - 4787 m.11456G>A 11456 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_11456_G/A heter ENSG00000198886 missense_variant Gca/Aca COSV62293716 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.03) probably_damaging(0.995) - 4788 m.11461A>G 11461 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11461_A/G homo ENSG00000198886 synonymous_variant gtA/gtG - LOW SNV MT-ND4 protein_coding - - - 4789 m.11464C>A 11464 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11464_C/A homo ENSG00000198886 synonymous_variant ctC/ctA - LOW SNV MT-ND4 protein_coding - - - 4790 m.11465T>C 11465 T C 26 0.003578310 2 0.000275255 7266 0.003853565 MT_11465_T/C homo&heter ENSG00000198886 synonymous_variant Tta/Cta rs369606982 LOW SNV MT-ND4 protein_coding - - - 4791 m.11467A>G 11467 A G 285 0.039223782 0 0.000000000 7266 0.039223782 MT_11467_A/G homo ENSG00000198886 synonymous_variant ttA/ttG rs2853493,COSV62294568 LOW SNV MT-ND4 protein_coding - - likely_pathogenic 4792 m.11470A>G 11470 A G 5 0.000688137 1 0.000137627 7266 0.000825764 MT_11470_A/G homo&heter ENSG00000198886 synonymous_variant aaA/aaG rs878968914 LOW SNV MT-ND4 protein_coding - - - 4793 m.11473A>G 11473 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11473_A/G homo ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4794 m.11476C>T 11476 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11476_C/T homo ENSG00000198886 synonymous_variant ggC/ggT rs386829131 LOW SNV MT-ND4 protein_coding - - - 4795 m.11478G>A 11478 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11478_G/A heter ENSG00000198886 missense_variant gGc/gAc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 4796 m.11479C>T 11479 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11479_C/T homo ENSG00000198886 synonymous_variant ggC/ggT - LOW SNV MT-ND4 protein_coding - - - 4797 m.11482T>C 11482 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11482_T/C homo ENSG00000198886 synonymous_variant taT/taC rs386829132 LOW SNV MT-ND4 protein_coding - - - 4798 m.11485T>C 11485 T C 20 0.002752546 0 0.000000000 7266 0.002752546 MT_11485_T/C homo ENSG00000198886 synonymous_variant ggT/ggC rs28529320 LOW SNV MT-ND4 protein_coding - - - 4799 m.11488A>G 11488 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11488_A/G homo ENSG00000198886 synonymous_variant atA/atG - LOW SNV MT-ND4 protein_coding - - - 4800 m.11490T>C 11490 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11490_T/C heter ENSG00000198886 missense_variant aTa/aCa - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.932) - 4801 m.11491A>G 11491 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11491_A/G homo ENSG00000198886 synonymous_variant atA/atG - LOW SNV MT-ND4 protein_coding - - - 4802 m.11497C>T 11497 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11497_C/T homo ENSG00000198886 synonymous_variant ctC/ctT - LOW SNV MT-ND4 protein_coding - - - 4803 m.11502T>C 11502 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_11502_T/C heter ENSG00000198886 missense_variant cTc/cCc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.21) benign(0.007) - 4804 m.11503C>T 11503 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_11503_C/T homo ENSG00000198886 synonymous_variant ctC/ctT - LOW SNV MT-ND4 protein_coding - - - 4805 m.11506T>C 11506 T C 7 0.000963391 1 0.000137627 7266 0.001101018 MT_11506_T/C homo&heter ENSG00000198886 synonymous_variant atT/atC rs878894616 LOW SNV MT-ND4 protein_coding - - - 4806 m.11509C>T 11509 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11509_C/T homo ENSG00000198886 synonymous_variant ctC/ctT - LOW SNV MT-ND4 protein_coding - - - 4807 m.11512C>T 11512 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11512_C/T homo ENSG00000198886 synonymous_variant aaC/aaT - LOW SNV MT-ND4 protein_coding - - - 4808 m.11516C>T 11516 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11516_C/T homo ENSG00000198886 synonymous_variant Ctg/Ttg - LOW SNV MT-ND4 protein_coding - - - 4809 m.11516CT>C 11516 CT C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11517_T/- heter ENSG00000198886 frameshift_variant cTg/cg - HIGH deletion MT-ND4 protein_coding - - - 4810 m.11518G>A 11518 G A 7 0.000963391 0 0.000000000 7266 0.000963391 MT_11518_G/A homo ENSG00000198886 synonymous_variant ctG/ctA rs878885684 LOW SNV MT-ND4 protein_coding - - - 4811 m.11518G>C 11518 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11518_G/C homo ENSG00000198886 synonymous_variant ctG/ctC - LOW SNV MT-ND4 protein_coding - - - 4812 m.11527C>T 11527 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_11527_C/T homo ENSG00000198886 synonymous_variant caC/caT - LOW SNV MT-ND4 protein_coding - - - 4813 m.11530A>G 11530 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11530_A/G homo ENSG00000198886 synonymous_variant atA/atG - LOW SNV MT-ND4 protein_coding - - - 4814 m.11533C>T 11533 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11533_C/T homo ENSG00000198886 synonymous_variant gcC/gcT - LOW SNV MT-ND4 protein_coding - - - 4815 m.11534T>C 11534 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11534_T/C heter ENSG00000198886 missense_variant Tac/Cac - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.997) - 4816 m.11535A>G 11535 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11535_A/G heter ENSG00000198886 missense_variant tAc/tGc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 4817 m.11536C>T 11536 C T 65 0.008945775 0 0.000000000 7266 0.008945775 MT_11536_C/T homo ENSG00000198886 synonymous_variant taC/taT rs878907375 LOW SNV MT-ND4 protein_coding - - - 4818 m.11539C>T 11539 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11539_C/T homo ENSG00000198886 synonymous_variant ccC/ccT - LOW SNV MT-ND4 protein_coding - - - 4819 m.11542C>T 11542 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11542_C/T homo ENSG00000198886 synonymous_variant ttC/ttT - LOW SNV MT-ND4 protein_coding - - - 4820 m.11545T>C 11545 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_11545_T/C homo&heter ENSG00000198886 synonymous_variant ctT/ctC - LOW SNV MT-ND4 protein_coding - - - 4821 m.11548A>G 11548 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11548_A/G homo ENSG00000198886 synonymous_variant gtA/gtG - LOW SNV MT-ND4 protein_coding - - - 4822 m.11549C>T 11549 C T 2 0.000275255 1 0.000137627 7266 0.000412882 MT_11549_C/T homo&heter ENSG00000198886 synonymous_variant Cta/Tta - LOW SNV MT-ND4 protein_coding - - - 4823 m.11554C>T 11554 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11554_C/T homo ENSG00000198886 synonymous_variant tcC/tcT - LOW SNV MT-ND4 protein_coding - - - 4824 m.11557A>G 11557 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_11557_A/G homo ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4825 m.11560A>G 11560 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_11560_A/G homo&heter ENSG00000198886 synonymous_variant tgA/tgG rs878853103 LOW SNV MT-ND4 protein_coding - - likely_benign 4826 m.11561G>A 11561 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11561_G/A heter ENSG00000198886 missense_variant Ggc/Agc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 4827 m.11562G>A 11562 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11562_G/A heter ENSG00000198886 missense_variant gGc/gAc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 4828 m.11563C>T 11563 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11563_C/T homo ENSG00000198886 synonymous_variant ggC/ggT - LOW SNV MT-ND4 protein_coding - - - 4829 m.11566A>G 11566 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11566_A/G homo ENSG00000198886 synonymous_variant atA/atG - LOW SNV MT-ND4 protein_coding - - - 4830 m.11567A>G 11567 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11567_A/G homo ENSG00000198886 missense_variant Att/Gtt - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.21) benign(0.005) - 4831 m.11569T>C 11569 T C 4 0.000550509 1 0.000137627 7266 0.000688137 MT_11569_T/C homo&heter ENSG00000198886 synonymous_variant atT/atC rs386829133 LOW SNV MT-ND4 protein_coding - - - 4832 m.11575A>G 11575 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11575_A/G homo ENSG00000198886 synonymous_variant acA/acG - LOW SNV MT-ND4 protein_coding - - - 4833 m.11579T>C 11579 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11579_T/C heter ENSG00000198886 missense_variant Tcc/Ccc COSV62293229 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.989) - 4834 m.11581C>A 11581 C A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11581_C/A homo ENSG00000198886 synonymous_variant tcC/tcA - LOW SNV MT-ND4 protein_coding - - - 4835 m.11581C>T 11581 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11581_C/T homo ENSG00000198886 synonymous_variant tcC/tcT - LOW SNV MT-ND4 protein_coding - - - 4836 m.11582A>C 11582 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11582_A/C heter ENSG00000198886 missense_variant Atc/Ctc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.01) possibly_damaging(0.885) - 4837 m.11582A>G 11582 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11582_A/G homo ENSG00000198886 missense_variant Atc/Gtc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.03) possibly_damaging(0.885) - 4838 m.11583T>C 11583 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11583_T/C heter ENSG00000198886 missense_variant aTc/aCc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.04) probably_damaging(0.98) - 4839 m.11589T>C 11589 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11589_T/C heter ENSG00000198886 missense_variant cTa/cCa - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 4840 m.11590A>G 11590 A G 17 0.002339664 0 0.000000000 7266 0.002339664 MT_11590_A/G homo ENSG00000198886 synonymous_variant ctA/ctG rs370318850 LOW SNV MT-ND4 protein_coding - - uncertain_significance 4841 m.11593A>T 11593 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11593_A/T homo ENSG00000198886 synonymous_variant cgA/cgT - LOW SNV MT-ND4 protein_coding - - - 4842 m.11602C>T 11602 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11602_C/T heter ENSG00000198886 synonymous_variant gaC/gaT - LOW SNV MT-ND4 protein_coding - - - 4843 m.11604T>C 11604 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11604_T/C heter ENSG00000198886 missense_variant cTa/cCa - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 4844 m.11605A>G 11605 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11605_A/G homo ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4845 m.11608A>G 11608 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11608_A/G homo ENSG00000198886 synonymous_variant aaA/aaG rs373062010 LOW SNV MT-ND4 protein_coding - - - 4846 m.11609T>C 11609 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11609_T/C heter ENSG00000198886 missense_variant Tcg/Ccg - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.989) - 4847 m.11611G>A 11611 G A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11611_G/A homo ENSG00000198886 synonymous_variant tcG/tcA rs386829134 LOW SNV MT-ND4 protein_coding - - - 4848 m.11613T>C 11613 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11613_T/C heter ENSG00000198886 missense_variant cTc/cCc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 4849 m.11614C>T 11614 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11614_C/T homo ENSG00000198886 synonymous_variant ctC/ctT - LOW SNV MT-ND4 protein_coding - - - 4850 m.11617T>C 11617 T C 1 0.000137627 2 0.000275255 7266 0.000412882 MT_11617_T/C homo&heter ENSG00000198886 synonymous_variant atT/atC rs386829135 LOW SNV MT-ND4 protein_coding - - - 4851 m.11623C>T 11623 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_11623_C/T homo ENSG00000198886 synonymous_variant taC/taT - LOW SNV MT-ND4 protein_coding - - - 4852 m.11626T>C 11626 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_11626_T/C homo ENSG00000198886 synonymous_variant tcT/tcC - LOW SNV MT-ND4 protein_coding - - - 4853 m.11632C>T 11632 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_11632_C/T homo ENSG00000198886 synonymous_variant atC/atT - LOW SNV MT-ND4 protein_coding - - - 4854 m.11634G>A 11634 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_11634_G/A heter ENSG00000198886 missense_variant aGc/aAc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.978) - 4855 m.11635C>T 11635 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11635_C/T homo ENSG00000198886 synonymous_variant agC/agT - LOW SNV MT-ND4 protein_coding - - - 4856 m.11638C>T 11638 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11638_C/T homo ENSG00000198886 synonymous_variant caC/caT - LOW SNV MT-ND4 protein_coding - - - 4857 m.11641A>G 11641 A G 56 0.007707129 0 0.000000000 7266 0.007707129 MT_11641_A/G homo ENSG00000198886 synonymous_variant atA/atG rs2853494 LOW SNV MT-ND4 protein_coding - - - 4858 m.11642G>A 11642 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11642_G/A heter ENSG00000198886 missense_variant Gcc/Acc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 4859 m.11644C>T 11644 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11644_C/T homo ENSG00000198886 synonymous_variant gcC/gcT - LOW SNV MT-ND4 protein_coding - - - 4860 m.11647C>T 11647 C T 29 0.003991192 0 0.000000000 7266 0.003991192 MT_11647_C/T homo ENSG00000198886 synonymous_variant ctC/ctT rs1556423971 LOW SNV MT-ND4 protein_coding - - - 4861 m.11648G>A 11648 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11648_G/A heter ENSG00000198886 missense_variant Gta/Ata - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.997) - 4862 m.11649T>C 11649 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11649_T/C heter ENSG00000198886 missense_variant gTa/gCa - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.982) - 4863 m.11650A>G 11650 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11650_A/G homo ENSG00000198886 synonymous_variant gtA/gtG - LOW SNV MT-ND4 protein_coding - - - 4864 m.11651G>A 11651 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11651_G/A homo ENSG00000198886 missense_variant Gta/Ata - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) benign(0.436) - 4865 m.11653A>G 11653 A G 18 0.002477291 0 0.000000000 7266 0.002477291 MT_11653_A/G homo ENSG00000198886 synonymous_variant gtA/gtG rs1556423973 LOW SNV MT-ND4 protein_coding - - - 4866 m.11654A>G 11654 A G 21 0.002890173 1 0.000137627 7266 0.003027801 MT_11654_A/G homo&heter ENSG00000198886 missense_variant Aca/Gca - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.65) benign(0) - 4867 m.11659C>T 11659 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_11659_C/T homo ENSG00000198886 synonymous_variant gcC/gcT rs386829136 LOW SNV MT-ND4 protein_coding - - - 4868 m.11662T>C 11662 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11662_T/C homo ENSG00000198886 synonymous_variant atT/atC - LOW SNV MT-ND4 protein_coding - - - 4869 m.11665C>T 11665 C T 129 0.017753922 0 0.000000000 7266 0.017753922 MT_11665_C/T homo ENSG00000198886 synonymous_variant ctC/ctT rs28631764 LOW SNV MT-ND4 protein_coding - - - 4870 m.11671A>G 11671 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11671_A/G heter ENSG00000198886 synonymous_variant caA/caG - LOW SNV MT-ND4 protein_coding - - - 4871 m.11674C>T 11674 C T 36 0.004954583 0 0.000000000 7266 0.004954583 MT_11674_C/T homo ENSG00000198886 synonymous_variant acC/acT rs28358286 LOW SNV MT-ND4 protein_coding - - - 4872 m.11677C>T 11677 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11677_C/T heter ENSG00000198886 synonymous_variant ccC/ccT - LOW SNV MT-ND4 protein_coding - - - 4873 m.11682G>A 11682 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11682_G/A heter ENSG00000198886 missense_variant aGc/aAc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.978) - 4874 m.11686C>T 11686 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11686_C/T homo ENSG00000198886 synonymous_variant ttC/ttT rs5018194 LOW SNV MT-ND4 protein_coding - - - 4875 m.11687A>G 11687 A G 1 0.000137627 2 0.000275255 7266 0.000412882 MT_11687_A/G homo&heter ENSG00000198886 missense_variant Acc/Gcc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.2) benign(0.01) - 4876 m.11689C>T 11689 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11689_C/T homo ENSG00000198886 synonymous_variant acC/acT - LOW SNV MT-ND4 protein_coding - - - 4877 m.11690G>A 11690 G A 0 0.000000000 5 0.000688137 7266 0.000688137 MT_11690_G/A heter ENSG00000198886 missense_variant Ggc/Agc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 4878 m.11692C>T 11692 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11692_C/T homo ENSG00000198886 synonymous_variant ggC/ggT COSV62293561 LOW SNV MT-ND4 protein_coding - - - 4879 m.11696G>A 11696 G A 117 0.016102395 0 0.000000000 7266 0.016102395 MT_11696_G/A homo ENSG00000198886 missense_variant Gtc/Atc rs200873900 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.72) benign(0.005) benign,pathogenic 4880 m.11699A>G 11699 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11699_A/G homo ENSG00000198886 missense_variant Att/Gtt - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.4) benign(0) - 4881 m.11700T>C 11700 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11700_T/C heter ENSG00000198886 missense_variant aTt/aCt - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.58) benign(0) - 4882 m.11701T>C 11701 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_11701_T/C homo&heter ENSG00000198886 synonymous_variant atT/atC - LOW SNV MT-ND4 protein_coding - - - 4883 m.11706T>G 11706 T G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11706_T/G heter ENSG00000198886 stop_gained aTa/aGa - HIGH SNV MT-ND4 protein_coding - - - 4884 m.11708A>G 11708 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11708_A/G homo ENSG00000198886 missense_variant Atc/Gtc rs386829138 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.11) benign(0.003) - 4885 m.11709T>C 11709 T C 0 0.000000000 3 0.000412882 7266 0.000412882 MT_11709_T/C heter ENSG00000198886 missense_variant aTc/aCc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.01) benign(0.191) - 4886 m.11710C>T 11710 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_11710_C/T homo&heter ENSG00000198886 synonymous_variant atC/atT - LOW SNV MT-ND4 protein_coding - - - 4887 m.11711G>A 11711 G A 1 0.000137627 4 0.000550509 7266 0.000688137 MT_11711_G/A homo&heter ENSG00000198886 missense_variant Gcc/Acc COSV62293124 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.995) - 4888 m.11713C>T 11713 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11713_C/T homo ENSG00000198886 synonymous_variant gcC/gcT - LOW SNV MT-ND4 protein_coding - - - 4889 m.11716C>T 11716 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11716_C/T homo ENSG00000198886 synonymous_variant caC/caT - LOW SNV MT-ND4 protein_coding - - - 4890 m.11717G>A 11717 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_11717_G/A heter ENSG00000198886 stop_gained Ggg/Agg - HIGH SNV MT-ND4 protein_coding - - - 4891 m.11718G>A 11718 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11718_G/A heter ENSG00000198886 missense_variant gGg/gAg - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 4892 m.11719G>A 11719 G A 6876 0.946325351 0 0.000000000 7266 0.946325351 MT_11719_G/A homo ENSG00000198886 synonymous_variant ggG/ggA rs2853495 LOW SNV MT-ND4 protein_coding - - - 4893 m.11722T>C 11722 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_11722_T/C homo ENSG00000198886 synonymous_variant ctT/ctC rs28471078 LOW SNV MT-ND4 protein_coding - - - 4894 m.11728C>T 11728 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11728_C/T homo ENSG00000198886 synonymous_variant tcC/tcT rs1556423987 LOW SNV MT-ND4 protein_coding - - - 4895 m.11731A>G 11731 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11731_A/G homo ENSG00000198886 synonymous_variant tcA/tcG - LOW SNV MT-ND4 protein_coding - - - 4896 m.11732T>C 11732 T C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_11732_T/C homo ENSG00000198886 synonymous_variant Tta/Cta rs879040138 LOW SNV MT-ND4 protein_coding - - - 4897 m.11734A>G 11734 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11734_A/G homo ENSG00000198886 synonymous_variant ttA/ttG rs879103455 LOW SNV MT-ND4 protein_coding - - - 4898 m.11735C>T 11735 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11735_C/T homo ENSG00000198886 synonymous_variant Cta/Tta - LOW SNV MT-ND4 protein_coding - - - 4899 m.11737A>G 11737 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11737_A/G homo ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4900 m.11744C>T 11744 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11744_C/T homo ENSG00000198886 synonymous_variant Cta/Tta - LOW SNV MT-ND4 protein_coding - - - 4901 m.11746A>G 11746 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11746_A/G homo ENSG00000198886 synonymous_variant ctA/ctG rs386829140 LOW SNV MT-ND4 protein_coding - - - 4902 m.11747G>A 11747 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11747_G/A homo ENSG00000198886 missense_variant Gca/Aca - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 4903 m.11762G>A 11762 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11762_G/A heter ENSG00000198886 missense_variant Gaa/Aaa - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.988) - 4904 m.11764A>G 11764 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_11764_A/G homo&heter ENSG00000198886 synonymous_variant gaA/gaG - LOW SNV MT-ND4 protein_coding - - - 4905 m.11767C>T 11767 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11767_C/T homo ENSG00000198886 synonymous_variant cgC/cgT - LOW SNV MT-ND4 protein_coding - - - 4906 m.11770T>C 11770 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11770_T/C homo ENSG00000198886 synonymous_variant acT/acC - LOW SNV MT-ND4 protein_coding - - - 4907 m.11775G>A 11775 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_11775_G/A heter ENSG00000198886 missense_variant aGt/aAt COSV62293362 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.07) probably_damaging(0.978) - 4908 m.11776T>C 11776 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_11776_T/C homo ENSG00000198886 synonymous_variant agT/agC rs28396842 LOW SNV MT-ND4 protein_coding - - - 4909 m.11778G>A 11778 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11778_G/A homo ENSG00000198886 missense_variant cGc/cAc rs199476112 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.996) pathogenic 4910 m.11779C>T 11779 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11779_C/T homo ENSG00000198886 synonymous_variant cgC/cgT - LOW SNV MT-ND4 protein_coding - - - 4911 m.11782C>T 11782 C T 19 0.002614919 0 0.000000000 7266 0.002614919 MT_11782_C/T homo ENSG00000198886 synonymous_variant atC/atT - LOW SNV MT-ND4 protein_coding - - - 4912 m.11785A>G 11785 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11785_A/G homo ENSG00000198886 synonymous_variant atA/atG - LOW SNV MT-ND4 protein_coding - - - 4913 m.11787T>C 11787 T C 0 0.000000000 3 0.000412882 7266 0.000412882 MT_11787_T/C heter ENSG00000198886 missense_variant aTc/aCc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.03) probably_damaging(0.98) - 4914 m.11788C>T 11788 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11788_C/T homo ENSG00000198886 synonymous_variant atC/atT rs1556423994 LOW SNV MT-ND4 protein_coding - - - 4915 m.11792T>G 11792 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11792_T/G homo ENSG00000198886 missense_variant Tct/Gct - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(1) probably_damaging(0.947) - 4916 m.11794T>C 11794 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11794_T/C homo ENSG00000198886 synonymous_variant tcT/tcC - LOW SNV MT-ND4 protein_coding - - - 4917 m.11797A>G 11797 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11797_A/G heter ENSG00000198886 synonymous_variant caA/caG - LOW SNV MT-ND4 protein_coding - - - 4918 m.11800A>G 11800 A G 31 0.004266446 1 0.000137627 7266 0.004404074 MT_11800_A/G homo&heter ENSG00000198886 synonymous_variant ggA/ggG rs1556423995 LOW SNV MT-ND4 protein_coding - - - 4919 m.11809T>C 11809 T C 22 0.003027801 1 0.000137627 7266 0.003165428 MT_11809_T/C homo&heter ENSG00000198886 synonymous_variant acT/acC - LOW SNV MT-ND4 protein_coding - - - 4920 m.11810C>T 11810 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11810_C/T homo ENSG00000198886 synonymous_variant Cta/Tta - LOW SNV MT-ND4 protein_coding - - - 4921 m.11812A>G 11812 A G 65 0.008945775 0 0.000000000 7266 0.008945775 MT_11812_A/G homo ENSG00000198886 synonymous_variant ctA/ctG rs3088053 LOW SNV MT-ND4 protein_coding - - - 4922 m.11815C>A 11815 C A 8 0.001101018 0 0.000000000 7266 0.001101018 MT_11815_C/A homo ENSG00000198886 synonymous_variant ctC/ctA - LOW SNV MT-ND4 protein_coding - - - 4923 m.11818A>G 11818 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_11818_A/G homo ENSG00000198886 synonymous_variant ccA/ccG - LOW SNV MT-ND4 protein_coding - - - 4924 m.11819C>T 11819 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11819_C/T heter ENSG00000198886 synonymous_variant Cta/Tta - LOW SNV MT-ND4 protein_coding - - - 4925 m.11821A>G 11821 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11821_A/G homo ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4926 m.11824A>G 11824 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_11824_A/G homo&heter ENSG00000198886 synonymous_variant atA/atG rs1556423997 LOW SNV MT-ND4 protein_coding - - - 4927 m.11825G>A 11825 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11825_G/A homo ENSG00000198886 missense_variant Gct/Act rs879083692 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.2) benign(0.012) - 4928 m.11827T>C 11827 T C 11 0.001513900 2 0.000275255 7266 0.001789155 MT_11827_T/C homo&heter ENSG00000198886 synonymous_variant gcT/gcC rs368026942 LOW SNV MT-ND4 protein_coding - - - 4929 m.11830T>C 11830 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11830_T/C homo ENSG00000198886 synonymous_variant ttT/ttC - LOW SNV MT-ND4 protein_coding - - - 4930 m.11836A>G 11836 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11836_A/G homo ENSG00000198886 synonymous_variant tgA/tgG - LOW SNV MT-ND4 protein_coding - - - 4931 m.11839T>C 11839 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11839_T/C homo ENSG00000198886 synonymous_variant ctT/ctC - LOW SNV MT-ND4 protein_coding - - - 4932 m.11840C>T 11840 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_11840_C/T homo ENSG00000198886 synonymous_variant Cta/Tta rs28550734 LOW SNV MT-ND4 protein_coding - - - 4933 m.11841T>C 11841 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_11841_T/C homo&heter ENSG00000198886 missense_variant cTa/cCa - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.04) benign(0.296) - 4934 m.11842A>G 11842 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11842_A/G homo ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4935 m.11843G>A 11843 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11843_G/A homo ENSG00000198886 missense_variant Gca/Aca rs28713729 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.07) probably_damaging(0.995) - 4936 m.11851C>T 11851 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11851_C/T homo ENSG00000198886 synonymous_variant ctC/ctT - LOW SNV MT-ND4 protein_coding - - - 4937 m.11852G>A 11852 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11852_G/A homo ENSG00000198886 missense_variant Gct/Act rs373915038 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.79) benign(0.012) - 4938 m.11854T>C 11854 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11854_T/C homo ENSG00000198886 synonymous_variant gcT/gcC - LOW SNV MT-ND4 protein_coding - - - 4939 m.11857C>T 11857 C T 2 0.000275255 1 0.000137627 7266 0.000412882 MT_11857_C/T homo&heter ENSG00000198886 synonymous_variant aaC/aaT - LOW SNV MT-ND4 protein_coding - - - 4940 m.11864T>C 11864 T C 7 0.000963391 1 0.000137627 7266 0.001101018 MT_11864_T/C homo&heter ENSG00000198886 synonymous_variant Tta/Cta rs878955413 LOW SNV MT-ND4 protein_coding - - - 4941 m.11866A>AC 11866 A AC 0 0.000000000 2 0.000275255 7266 0.000275255 MT_11867_-/C heter ENSG00000198886 frameshift_variant -/C - HIGH insertion MT-ND4 protein_coding - - - 4942 m.11866A>G 11866 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11866_A/G homo ENSG00000198886 synonymous_variant ttA/ttG - LOW SNV MT-ND4 protein_coding - - - 4943 m.11869C>A 11869 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11869_C/A homo ENSG00000198886 synonymous_variant ccC/ccA rs879067987 LOW SNV MT-ND4 protein_coding - - - 4944 m.11875T>C 11875 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_11875_T/C homo&heter ENSG00000198886 synonymous_variant acT/acC rs1556424006,COSV62294299 LOW SNV MT-ND4 protein_coding - - - 4945 m.11878T>C 11878 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_11878_T/C homo ENSG00000198886 synonymous_variant atT/atC - LOW SNV MT-ND4 protein_coding - - - 4946 m.11881C>T 11881 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_11881_C/T homo ENSG00000198886 synonymous_variant aaC/aaT - LOW SNV MT-ND4 protein_coding - - - 4947 m.11884A>G 11884 A G 12 0.001651528 1 0.000137627 7266 0.001789155 MT_11884_A/G homo&heter ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4948 m.11887G>A 11887 G A 25 0.003440683 1 0.000137627 7266 0.003578310 MT_11887_G/A homo&heter ENSG00000198886 synonymous_variant ctG/ctA rs1556424007 LOW SNV MT-ND4 protein_coding - - - 4949 m.11890A>G 11890 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_11890_A/G homo&heter ENSG00000198886 synonymous_variant ggA/ggG - LOW SNV MT-ND4 protein_coding - - - 4950 m.11893A>G 11893 A G 11 0.001513900 1 0.000137627 7266 0.001651528 MT_11893_A/G homo&heter ENSG00000198886 synonymous_variant gaA/gaG rs878934321 LOW SNV MT-ND4 protein_coding - - - 4951 m.11899T>C 11899 T C 16 0.002202037 2 0.000275255 7266 0.002477291 MT_11899_T/C homo&heter ENSG00000198886 synonymous_variant tcT/tcC rs28718242 LOW SNV MT-ND4 protein_coding - - likely_benign 4952 m.11900G>A 11900 G A 0 0.000000000 3 0.000412882 7266 0.000412882 MT_11900_G/A heter ENSG00000198886 missense_variant Gtg/Atg rs878983346,COSV62293759 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.997) - 4953 m.11902G>A 11902 G A 10 0.001376273 0 0.000000000 7266 0.001376273 MT_11902_G/A homo ENSG00000198886 synonymous_variant gtG/gtA COSV62292941 LOW SNV MT-ND4 protein_coding - - - 4954 m.11903C>T 11903 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11903_C/T homo ENSG00000198886 synonymous_variant Cta/Tta - LOW SNV MT-ND4 protein_coding - - - 4955 m.11905A>G 11905 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11905_A/G homo ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4956 m.11907T>C 11907 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11907_T/C heter ENSG00000198886 missense_variant gTa/gCa - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.16) benign(0.04) - 4957 m.11908A>G 11908 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_11908_A/G homo ENSG00000198886 synonymous_variant gtA/gtG rs878997763 LOW SNV MT-ND4 protein_coding - - - 4958 m.11914G>A 11914 G A 679 0.093448940 1 0.000137627 7266 0.093586568 MT_11914_G/A homo&heter ENSG00000198886 synonymous_variant acG/acA rs2853496,COSV62294301 LOW SNV MT-ND4 protein_coding - - - 4959 m.11914G>C 11914 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11914_G/C heter ENSG00000198886 synonymous_variant acG/acC COSV62294301 LOW SNV MT-ND4 protein_coding - - - 4960 m.11916T>C 11916 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11916_T/C heter ENSG00000198886 missense_variant tTc/tCc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.959) - 4961 m.11918T>G 11918 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11918_T/G homo ENSG00000198886 missense_variant Tcc/Gcc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.02) possibly_damaging(0.82) - 4962 m.11920C>T 11920 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11920_C/T homo ENSG00000198886 synonymous_variant tcC/tcT - LOW SNV MT-ND4 protein_coding - - - 4963 m.11923A>G 11923 A G 13 0.001789155 0 0.000000000 7266 0.001789155 MT_11923_A/G homo ENSG00000198886 synonymous_variant tgA/tgG rs386829142 LOW SNV MT-ND4 protein_coding - - - 4964 m.11924T>G 11924 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11924_T/G homo ENSG00000198886 missense_variant Tca/Gca - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.01) benign(0) - 4965 m.11926A>T 11926 A T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_11926_A/T homo ENSG00000198886 synonymous_variant tcA/tcT - LOW SNV MT-ND4 protein_coding - - - 4966 m.11928A>G 11928 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_11928_A/G homo ENSG00000198886 missense_variant aAt/aGt rs1569484466,COSV62293194 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.12) probably_damaging(0.954) - 4967 m.11929T>C 11929 T C 3 0.000412882 2 0.000275255 7266 0.000688137 MT_11929_T/C homo&heter ENSG00000198886 synonymous_variant aaT/aaC - LOW SNV MT-ND4 protein_coding - - - 4968 m.11930A>C 11930 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11930_A/C homo ENSG00000198886 missense_variant Atc/Ctc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.64) benign(0) - 4969 m.11930A>G 11930 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11930_A/G homo ENSG00000198886 missense_variant Atc/Gtc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.2) benign(0) - 4970 m.11932C>A 11932 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11932_C/A homo ENSG00000198886 missense_variant atC/atA - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.21) benign(0.047) - 4971 m.11932C>T 11932 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_11932_C/T homo ENSG00000198886 synonymous_variant atC/atT - LOW SNV MT-ND4 protein_coding - - - 4972 m.11933A>T 11933 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11933_A/T homo ENSG00000198886 missense_variant Act/Tct - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.26) probably_damaging(0.954) - 4973 m.11935T>A 11935 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11935_T/A homo ENSG00000198886 synonymous_variant acT/acA - LOW SNV MT-ND4 protein_coding - - - 4974 m.11935T>C 11935 T C 20 0.002752546 0 0.000000000 7266 0.002752546 MT_11935_T/C homo ENSG00000198886 synonymous_variant acT/acC - LOW SNV MT-ND4 protein_coding - - - 4975 m.11938C>T 11938 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11938_C/T homo ENSG00000198886 synonymous_variant ctC/ctT rs1556424019 LOW SNV MT-ND4 protein_coding - - - 4976 m.11940T>C 11940 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_11940_T/C heter ENSG00000198886 missense_variant cTa/cCa - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) benign(0.096) - 4977 m.11941A>G 11941 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11941_A/G homo ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4978 m.11944T>C 11944 T C 508 0.069914671 0 0.000000000 7266 0.069914671 MT_11944_T/C homo ENSG00000198886 synonymous_variant ctT/ctC rs3087901 LOW SNV MT-ND4 protein_coding - - - 4979 m.11946C>T 11946 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11946_C/T heter ENSG00000198886 missense_variant aCa/aTa - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.33) benign(0.401) - 4980 m.11947A>G 11947 A G 35 0.004816956 0 0.000000000 7266 0.004816956 MT_11947_A/G homo ENSG00000198886 synonymous_variant acA/acG rs28359168 LOW SNV MT-ND4 protein_coding - - - 4981 m.11950A>G 11950 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11950_A/G homo ENSG00000198886 synonymous_variant ggA/ggG - LOW SNV MT-ND4 protein_coding - - - 4982 m.11955A>G 11955 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11955_A/G heter ENSG00000198886 missense_variant aAc/aGc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.05) probably_damaging(0.954) - 4983 m.11956C>T 11956 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11956_C/T homo ENSG00000198886 synonymous_variant aaC/aaT - LOW SNV MT-ND4 protein_coding - - - 4984 m.11959A>G 11959 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11959_A/G homo ENSG00000198886 synonymous_variant atA/atG rs879222985 LOW SNV MT-ND4 protein_coding - - - 4985 m.11962A>G 11962 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11962_A/G homo ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4986 m.11963G>A 11963 G A 25 0.003440683 1 0.000137627 7266 0.003578310 MT_11963_G/A homo&heter ENSG00000198886 missense_variant Gtc/Atc rs201803948 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(1) benign(0) - 4987 m.11965C>T 11965 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11965_C/T homo ENSG00000198886 synonymous_variant gtC/gtT - LOW SNV MT-ND4 protein_coding - - - 4988 m.11968A>T 11968 A T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11968_A/T homo ENSG00000198886 synonymous_variant acA/acT - LOW SNV MT-ND4 protein_coding - - - 4989 m.11969G>A 11969 G A 80 0.011010184 1 0.000137627 7266 0.011147812 MT_11969_G/A homo&heter ENSG00000198886 missense_variant Gcc/Acc rs28359169 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.02) benign(0.003) - 4990 m.11971C>T 11971 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_11971_C/T homo ENSG00000198886 synonymous_variant gcC/gcT - LOW SNV MT-ND4 protein_coding - - - 4991 m.11974A>G 11974 A G 13 0.001789155 0 0.000000000 7266 0.001789155 MT_11974_A/G homo ENSG00000198886 synonymous_variant ctA/ctG - LOW SNV MT-ND4 protein_coding - - - 4992 m.11977C>T 11977 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_11977_C/T homo&heter ENSG00000198886 synonymous_variant taC/taT - LOW SNV MT-ND4 protein_coding - - - 4993 m.11981C>T 11981 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_11981_C/T homo ENSG00000198886 missense_variant Ctc/Ttc rs386829143 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.986) - 4994 m.11982T>C 11982 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11982_T/C heter ENSG00000198886 missense_variant cTc/cCc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.991) - 4995 m.11984T>C 11984 T C 9 0.001238646 1 0.000137627 7266 0.001376273 MT_11984_T/C homo&heter ENSG00000198886 missense_variant Tac/Cac rs200911567 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.31) probably_damaging(0.986) benign 4996 m.11986C>T 11986 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_11986_C/T homo ENSG00000198886 synonymous_variant taC/taT - LOW SNV MT-ND4 protein_coding - - - 4997 m.11990T>C 11990 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11990_T/C heter ENSG00000198886 missense_variant Ttt/Ctt - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.8) benign(0) - 4998 m.11992T>C 11992 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_11992_T/C homo&heter ENSG00000198886 synonymous_variant ttT/ttC COSV62294117 LOW SNV MT-ND4 protein_coding - - - 4999 m.11994C>T 11994 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11994_C/T heter ENSG00000198886 missense_variant aCc/aTc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(1) benign(0) - 5000 m.11995C>T 11995 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_11995_C/T heter ENSG00000198886 synonymous_variant acC/acT - LOW SNV MT-ND4 protein_coding - - - 5001 m.11998A>G 11998 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_11998_A/G homo ENSG00000198886 synonymous_variant acA/acG - LOW SNV MT-ND4 protein_coding - - - 5002 m.12004A>G 12004 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12004_A/G homo ENSG00000198886 synonymous_variant caA/caG - LOW SNV MT-ND4 protein_coding - - - 5003 m.12005T>C 12005 T C 1 0.000137627 2 0.000275255 7266 0.000412882 MT_12005_T/C homo&heter ENSG00000198886 missense_variant Tgg/Cgg COSV62293163 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(1) benign(0) - 5004 m.12005T>G 12005 T G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12005_T/G heter ENSG00000198886 missense_variant Tgg/Ggg COSV62293163 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) benign(0.031) - 5005 m.12007G>A 12007 G A 432 0.059454996 1 0.000137627 7266 0.059592623 MT_12007_G/A homo&heter ENSG00000198886 synonymous_variant tgG/tgA rs2853497 LOW SNV MT-ND4 protein_coding - - - 5006 m.12011T>A 12011 T A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12011_T/A heter ENSG00000198886 missense_variant Tca/Aca - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.18) benign(0) - 5007 m.12011T>C 12011 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_12011_T/C homo ENSG00000198886 missense_variant Tca/Cca rs386829144 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.65) benign(0) - 5008 m.12014C>T 12014 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12014_C/T homo ENSG00000198886 missense_variant Ctc/Ttc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.48) benign(0.43) - 5009 m.12015T>C 12015 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_12015_T/C heter ENSG00000198886 missense_variant cTc/cCc COSV62293879 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.25) benign(0.001) - 5010 m.12016C>T 12016 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12016_C/T homo ENSG00000198886 synonymous_variant ctC/ctT - LOW SNV MT-ND4 protein_coding - - - 5011 m.12017A>G 12017 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12017_A/G homo ENSG00000198886 missense_variant Acc/Gcc rs879136236 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.08) benign(0.019) - 5012 m.12019C>T 12019 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_12019_C/T homo ENSG00000198886 synonymous_variant acC/acT rs1556424036 LOW SNV MT-ND4 protein_coding - - - 5013 m.12020C>T 12020 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12020_C/T homo ENSG00000198886 missense_variant Cac/Tac - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.77) possibly_damaging(0.889) - 5014 m.12026A>G 12026 A G 177 0.024360033 0 0.000000000 7266 0.024360033 MT_12026_A/G homo ENSG00000198886 missense_variant Att/Gtt rs202136725 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.07) benign(0.01) - 5015 m.12027T>C 12027 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12027_T/C heter ENSG00000198886 missense_variant aTt/aCt - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.37) benign(0) - 5016 m.12030A>G 12030 A G 18 0.002477291 0 0.000000000 7266 0.002477291 MT_12030_A/G homo ENSG00000198886 missense_variant aAc/aGc rs1556424041 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.43) benign(0.003) - 5017 m.12031C>A 12031 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12031_C/A homo ENSG00000198886 missense_variant aaC/aaA - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.34) benign(0) - 5018 m.12034C>T 12034 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12034_C/T homo ENSG00000198886 synonymous_variant aaC/aaT - LOW SNV MT-ND4 protein_coding - - - 5019 m.12040A>G 12040 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_12040_A/G homo ENSG00000198886 synonymous_variant aaA/aaG - LOW SNV MT-ND4 protein_coding - - - 5020 m.12046A>T 12046 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12046_A/T homo ENSG00000198886 synonymous_variant tcA/tcT - LOW SNV MT-ND4 protein_coding - - - 5021 m.12049C>T 12049 C T 18 0.002477291 0 0.000000000 7266 0.002477291 MT_12049_C/T homo ENSG00000198886 synonymous_variant ttC/ttT rs1569484480 LOW SNV MT-ND4 protein_coding - - - 5022 m.12061C>T 12061 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12061_C/T homo ENSG00000198886 synonymous_variant aaC/aaT rs1556424043 LOW SNV MT-ND4 protein_coding - - - 5023 m.12063C>T 12063 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12063_C/T homo ENSG00000198886 missense_variant aCc/aTc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.21) benign(0) - 5024 m.12067C>A 12067 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12067_C/A homo ENSG00000198886 synonymous_variant ctC/ctA - LOW SNV MT-ND4 protein_coding - - - 5025 m.12067C>T 12067 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12067_C/T homo ENSG00000198886 synonymous_variant ctC/ctT rs1556424044 LOW SNV MT-ND4 protein_coding - - - 5026 m.12070G>A 12070 G A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12070_G/A homo ENSG00000198886 synonymous_variant atG/atA - LOW SNV MT-ND4 protein_coding - - - 5027 m.12071T>A 12071 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12071_T/A homo ENSG00000198886 missense_variant Ttc/Atc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.37) benign(0.009) - 5028 m.12071T>C 12071 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_12071_T/C homo&heter ENSG00000198886 missense_variant Ttc/Ctc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.56) benign(0) - 5029 m.12076A>G 12076 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12076_A/G homo ENSG00000198886 synonymous_variant atA/atG rs879252537 LOW SNV MT-ND4 protein_coding - - - 5030 m.12082A>G 12082 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_12082_A/G homo ENSG00000198886 synonymous_variant ctA/ctG rs372164720 LOW SNV MT-ND4 protein_coding - - - 5031 m.12084C>T 12084 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_12084_C/T homo&heter ENSG00000198886 missense_variant tCc/tTc rs1556424051 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.1) benign(0) - 5032 m.12085C>T 12085 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12085_C/T homo ENSG00000198886 synonymous_variant tcC/tcT - LOW SNV MT-ND4 protein_coding - - - 5033 m.12088C>T 12088 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12088_C/T homo ENSG00000198886 synonymous_variant ccC/ccT rs878866559 LOW SNV MT-ND4 protein_coding - - - 5034 m.12091T>C 12091 T C 131 0.018029177 0 0.000000000 7266 0.018029177 MT_12091_T/C homo ENSG00000198886 synonymous_variant atT/atC rs28415973 LOW SNV MT-ND4 protein_coding - - - 5035 m.12092C>A 12092 C A 21 0.002890173 1 0.000137627 7266 0.003027801 MT_12092_C/A homo&heter ENSG00000198886 missense_variant Ctc/Atc - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.72) probably_damaging(0.954) - 5036 m.12094C>T 12094 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12094_C/T homo ENSG00000198886 synonymous_variant ctC/ctT - LOW SNV MT-ND4 protein_coding - - - 5037 m.12103C>A 12103 C A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_12103_C/A homo ENSG00000198886 synonymous_variant tcC/tcA - LOW SNV MT-ND4 protein_coding - - - 5038 m.12103C>T 12103 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12103_C/T homo ENSG00000198886 synonymous_variant tcC/tcT - LOW SNV MT-ND4 protein_coding - - - 5039 m.12106C>T 12106 C T 29 0.003991192 0 0.000000000 7266 0.003991192 MT_12106_C/T homo ENSG00000198886 synonymous_variant ctC/ctT rs879069347 LOW SNV MT-ND4 protein_coding - - - 5040 m.12109C>T 12109 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12109_C/T homo ENSG00000198886 synonymous_variant aaC/aaT - LOW SNV MT-ND4 protein_coding - - - 5041 m.12112C>T 12112 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12112_C/T homo ENSG00000198886 synonymous_variant ccC/ccT rs28695839 LOW SNV MT-ND4 protein_coding - - - 5042 m.12115C>T 12115 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12115_C/T homo ENSG00000198886 synonymous_variant gaC/gaT rs1556424057 LOW SNV MT-ND4 protein_coding - - - 5043 m.12117T>C 12117 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_12117_T/C heter ENSG00000198886 missense_variant aTc/aCc - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.04) probably_damaging(0.924) - 5044 m.12118C>T 12118 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_12118_C/T homo&heter ENSG00000198886 synonymous_variant atC/atT - LOW SNV MT-ND4 protein_coding - - - 5045 m.12121T>C 12121 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_12121_T/C homo ENSG00000198886 synonymous_variant atT/atC rs879137257 LOW SNV MT-ND4 protein_coding - - - 5046 m.12123C>T 12123 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12123_C/T homo ENSG00000198886 missense_variant aCc/aTc rs1569484488 MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.09) benign(0.104) - 5047 m.12125G>A 12125 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_12125_G/A heter ENSG00000198886 stop_gained Ggg/Agg - HIGH SNV MT-ND4 protein_coding - - - 5048 m.12126G>A 12126 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_12126_G/A heter ENSG00000198886 missense_variant gGg/gAg - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 5049 m.12127G>A 12127 G A 17 0.002339664 0 0.000000000 7266 0.002339664 MT_12127_G/A homo ENSG00000198886 synonymous_variant ggG/ggA rs878982369 LOW SNV MT-ND4 protein_coding - - - 5050 m.12128T>C 12128 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12128_T/C homo ENSG00000198886 missense_variant Ttt/Ctt - MODERATE SNV MT-ND4 protein_coding tolerated_low_confidence(0.53) benign(0) - 5051 m.12130T>C 12130 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_12130_T/C homo ENSG00000198886 synonymous_variant ttT/ttC - LOW SNV MT-ND4 protein_coding - - - 5052 m.12133C>T 12133 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12133_C/T homo ENSG00000198886 synonymous_variant tcC/tcT rs386829146 LOW SNV MT-ND4 protein_coding - - - 5053 m.12134T>C 12134 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12134_T/C homo ENSG00000198886 missense_variant Tct/Cct - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0.01) benign(0.316) - 5054 m.12135C>A 12135 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12135_C/A homo ENSG00000198886 missense_variant tCt/tAt rs1556424062 MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) possibly_damaging(0.618) - 5055 m.12135C>T 12135 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_12135_C/T homo ENSG00000198886 missense_variant tCt/tTt - MODERATE SNV MT-ND4 protein_coding deleterious_low_confidence(0) possibly_damaging(0.496) - 5056 m.12136T>C 12136 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_12136_T/C homo ENSG00000198886 synonymous_variant tcT/tcC rs1556424065 LOW SNV MT-ND4 protein_coding - - - 5057 m.12141A>G 12141 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12141_A/G homo ENSG00000210176 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TH Mt_tRNA - - - 5058 m.12142A>G 12142 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12142_A/G homo ENSG00000210176 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TH Mt_tRNA - - - 5059 m.12150T>C 12150 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12150_T/C heter ENSG00000210176 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TH Mt_tRNA - - - 5060 m.12151A>G 12151 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12151_A/G homo ENSG00000210176 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TH Mt_tRNA - - - 5061 m.12153C>T 12153 C T 21 0.002890173 0 0.000000000 7266 0.002890173 MT_12153_C/T homo ENSG00000210176 non_coding_transcript_exon_variant - rs376606918 MODIFIER SNV MT-TH Mt_tRNA - - uncertain_significance,benign 5062 m.12161T>C 12161 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12161_T/C homo ENSG00000210176 non_coding_transcript_exon_variant - rs386829147 MODIFIER SNV MT-TH Mt_tRNA - - - 5063 m.12164G>A 12164 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12164_G/A homo ENSG00000210176 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TH Mt_tRNA - - - 5064 m.12170G>A 12170 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_12170_G/A heter ENSG00000210176 non_coding_transcript_exon_variant - rs1556424072 MODIFIER SNV MT-TH Mt_tRNA - - not_provided 5065 m.12171A>G 12171 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_12171_A/G homo ENSG00000210176 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TH Mt_tRNA - - - 5066 m.12172A>G 12172 A G 28 0.003853565 3 0.000412882 7266 0.004266446 MT_12172_A/G homo&heter ENSG00000210176 non_coding_transcript_exon_variant - rs1556424073 MODIFIER SNV MT-TH Mt_tRNA - - - 5067 m.12173T>C 12173 T C 2 0.000275255 2 0.000275255 7266 0.000550509 MT_12173_T/C homo&heter ENSG00000210176 non_coding_transcript_exon_variant - rs1556424075 MODIFIER SNV MT-TH Mt_tRNA - - - 5068 m.12175T>C 12175 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12175_T/C homo ENSG00000210176 non_coding_transcript_exon_variant - rs1057520099 MODIFIER SNV MT-TH Mt_tRNA - - uncertain_significance,benign 5069 m.12177A>G 12177 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12177_A/G homo ENSG00000210176 non_coding_transcript_exon_variant - rs1569484492 MODIFIER SNV MT-TH Mt_tRNA - - uncertain_significance 5070 m.12178C>T 12178 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12178_C/T homo ENSG00000210176 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TH Mt_tRNA - - - 5071 m.12182A>G 12182 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12182_A/G homo ENSG00000210176 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TH Mt_tRNA - - - 5072 m.12184A>G 12184 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12184_A/G homo ENSG00000210176 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TH Mt_tRNA - - - 5073 m.12187C>T 12187 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12187_C/T homo ENSG00000210176 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TH Mt_tRNA - - - 5074 m.12188T>A 12188 T A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12188_T/A homo ENSG00000210176 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TH Mt_tRNA - - - 5075 m.12188T>C 12188 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12188_T/C homo ENSG00000210176 non_coding_transcript_exon_variant - rs879128211 MODIFIER SNV MT-TH Mt_tRNA - - - 5076 m.12189T>C 12189 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_12189_T/C homo ENSG00000210176 non_coding_transcript_exon_variant - rs28505538 MODIFIER SNV MT-TH Mt_tRNA - - - 5077 m.12190A>G 12190 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12190_A/G homo ENSG00000210176 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TH Mt_tRNA - - - 5078 m.12192G>A 12192 G A 17 0.002339664 1 0.000137627 7266 0.002477291 MT_12192_G/A homo&heter ENSG00000210176 non_coding_transcript_exon_variant - rs3134560 MODIFIER SNV MT-TH Mt_tRNA - - pathogenic,benign 5079 m.12193A>G 12193 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12193_A/G homo ENSG00000210176 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TH Mt_tRNA - - - 5080 m.12196C>T 12196 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12196_C/T homo ENSG00000210176 non_coding_transcript_exon_variant - rs1556424080 MODIFIER SNV MT-TH Mt_tRNA - - - 5081 m.12200A>G 12200 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_12200_A/G homo ENSG00000210176 non_coding_transcript_exon_variant - rs1569484498 MODIFIER SNV MT-TH Mt_tRNA - - - 5082 m.12212A>G 12212 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12212_A/G homo ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5083 m.12214C>A 12214 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12214_C/A homo ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5084 m.12214C>T 12214 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12214_C/T homo ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5085 m.12215T>A 12215 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12215_T/A homo ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5086 m.12215T>C 12215 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12215_T/C homo ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5087 m.12216C>T 12216 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_12216_C/T homo ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5088 m.12217A>G 12217 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12217_A/G homo ENSG00000210184 non_coding_transcript_exon_variant - rs1556424082 MODIFIER SNV MT-TS2 Mt_tRNA - - - 5089 m.12220A>G 12220 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12220_A/G homo ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5090 m.12223A>G 12223 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12223_A/G homo ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5091 m.12224C>T 12224 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_12224_C/T homo ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5092 m.12231C>T 12231 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12231_C/T homo ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5093 m.12234A>C 12234 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12234_A/C homo ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5094 m.12234A>G 12234 A G 18 0.002477291 0 0.000000000 7266 0.002477291 MT_12234_A/G homo ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5095 m.12235T>C 12235 T C 7 0.000963391 1 0.000137627 7266 0.001101018 MT_12235_T/C homo&heter ENSG00000210184 non_coding_transcript_exon_variant - rs1556424083 MODIFIER SNV MT-TS2 Mt_tRNA - - - 5096 m.12236G>A 12236 G A 115 0.015827140 2 0.000275255 7266 0.016102395 MT_12236_G/A homo&heter ENSG00000210184 non_coding_transcript_exon_variant - rs28359170 MODIFIER SNV MT-TS2 Mt_tRNA - - uncertain_significance,benign 5097 m.12236GC>G 12236 GC G 5 0.000688137 2 0.000275255 7266 0.000963391 MT_12237_C/- homo&heter ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER deletion MT-TS2 Mt_tRNA - - - 5098 m.12237C>T 12237 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_12237_C/T homo ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5099 m.12238C>T 12238 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12238_C/T heter ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5100 m.12239C>T 12239 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12239_C/T homo ENSG00000210184 non_coding_transcript_exon_variant - rs376062400 MODIFIER SNV MT-TS2 Mt_tRNA - - benign 5101 m.12242A>G 12242 A G 2 0.000275255 2 0.000275255 7266 0.000550509 MT_12242_A/G homo&heter ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5102 m.12243T>C 12243 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12243_T/C heter ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5103 m.12245T>C 12245 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12245_T/C homo ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5104 m.12248A>G 12248 A G 22 0.003027801 0 0.000000000 7266 0.003027801 MT_12248_A/G homo ENSG00000210184 non_coding_transcript_exon_variant - rs202114991 MODIFIER SNV MT-TS2 Mt_tRNA - - - 5105 m.12249A>AT 12249 A AT 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12250_-/T homo ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER insertion MT-TS2 Mt_tRNA - - - 5106 m.12250C>T 12250 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12250_C/T homo ENSG00000210184 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TS2 Mt_tRNA - - - 5107 m.12278T>C 12278 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_12278_T/C heter ENSG00000210191 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL2 Mt_tRNA - - - 5108 m.12279A>G 12279 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12279_A/G homo ENSG00000210191 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL2 Mt_tRNA - - - 5109 m.12280A>G 12280 A G 27 0.003715937 4 0.000550509 7266 0.004266446 MT_12280_A/G homo&heter ENSG00000210191 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL2 Mt_tRNA - - - 5110 m.12281C>T 12281 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12281_C/T homo ENSG00000210191 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL2 Mt_tRNA - - - 5111 m.12285T>C 12285 T C 16 0.002202037 2 0.000275255 7266 0.002477291 MT_12285_T/C homo&heter ENSG00000210191 non_coding_transcript_exon_variant - rs386419957 MODIFIER SNV MT-TL2 Mt_tRNA - - - 5112 m.12295T>C 12295 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12295_T/C heter ENSG00000210191 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL2 Mt_tRNA - - - 5113 m.12297T>C 12297 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12297_T/C homo ENSG00000210191 non_coding_transcript_exon_variant - rs121434464 MODIFIER SNV MT-TL2 Mt_tRNA - - benign,not_provided,pathogenic 5114 m.12301G>A 12301 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12301_G/A heter ENSG00000210191 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL2 Mt_tRNA - - - 5115 m.12302C>T 12302 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_12302_C/T homo ENSG00000210191 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL2 Mt_tRNA - - - 5116 m.12303C>T 12303 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12303_C/T heter ENSG00000210191 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL2 Mt_tRNA - - - 5117 m.12305C>CA 12305 C CA 1 0.000137627 1 0.000137627 7266 0.000275255 MT_12306_-/A homo&heter ENSG00000210191 non_coding_transcript_exon_variant - - MODIFIER insertion MT-TL2 Mt_tRNA - - - 5118 m.12308A>G 12308 A G 283 0.038948527 0 0.000000000 7266 0.038948527 MT_12308_A/G homo ENSG00000210191 non_coding_transcript_exon_variant - rs2853498 MODIFIER SNV MT-TL2 Mt_tRNA - - - 5119 m.12311T>C 12311 T C 22 0.003027801 0 0.000000000 7266 0.003027801 MT_12311_T/C homo ENSG00000210191 non_coding_transcript_exon_variant - rs201754056 MODIFIER SNV MT-TL2 Mt_tRNA - - - 5120 m.12318G>A 12318 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12318_G/A heter ENSG00000210191 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL2 Mt_tRNA - - - 5121 m.12322C>T 12322 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_12322_C/T homo&heter ENSG00000210191 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL2 Mt_tRNA - - - 5122 m.12332A>G 12332 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_12332_A/G homo&heter ENSG00000210191 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TL2 Mt_tRNA - - - 5123 m.12337A>T 12337 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12337_A/T homo ENSG00000198786 start_lost Ata/Tta - HIGH SNV MT-ND5 protein_coding deleterious_low_confidence(0.04) unknown(0) - 5124 m.12338T>C 12338 T C 158 0.021745114 0 0.000000000 7266 0.021745114 MT_12338_T/C homo ENSG00000198786 start_lost aTa/aCa rs201863060 HIGH SNV MT-ND5 protein_coding deleterious_low_confidence(0) unknown(0) pathogenic,benign 5125 m.12340A>G 12340 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12340_A/G homo ENSG00000198786 missense_variant Acc/Gcc rs28490236 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.12) unknown(0) - 5126 m.12342C>T 12342 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12342_C/T homo ENSG00000198786 synonymous_variant acC/acT - LOW SNV MT-ND5 protein_coding - - - 5127 m.12346C>T 12346 C T 16 0.002202037 1 0.000137627 7266 0.002339664 MT_12346_C/T homo&heter ENSG00000198786 missense_variant Cac/Tac rs200279497 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.79) unknown(0) benign,likely_benign 5128 m.12348C>T 12348 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12348_C/T homo ENSG00000198786 synonymous_variant caC/caT rs879025446 LOW SNV MT-ND5 protein_coding - - - 5129 m.12351T>C 12351 T C 7 0.000963391 1 0.000137627 7266 0.001101018 MT_12351_T/C homo&heter ENSG00000198786 synonymous_variant acT/acC rs879171402 LOW SNV MT-ND5 protein_coding - - - 5130 m.12354T>C 12354 T C 48 0.006606111 0 0.000000000 7266 0.006606111 MT_12354_T/C homo ENSG00000198786 synonymous_variant acT/acC rs386829150 LOW SNV MT-ND5 protein_coding - - - 5131 m.12358A>G 12358 A G 314 0.043214974 0 0.000000000 7266 0.043214974 MT_12358_A/G homo ENSG00000198786 missense_variant Acc/Gcc rs201027657 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.61) unknown(0) - 5132 m.12360C>T 12360 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_12360_C/T homo ENSG00000198786 synonymous_variant acC/acT - LOW SNV MT-ND5 protein_coding - - - 5133 m.12361A>G 12361 A G 109 0.015001376 0 0.000000000 7266 0.015001376 MT_12361_A/G homo ENSG00000198786 missense_variant Acc/Gcc rs3134561 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.08) unknown(0) - 5134 m.12361ACCCTAACCCTGACTT>A 12361 ACCCTAACCCTGACTT A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12362_CCCTAACCCTGACTT/- heter ENSG00000198786 inframe_deletion aCCCTAACCCTGACTTcc/acc - MODERATE deletion MT-ND5 protein_coding - - - 5135 m.12362C>T 12362 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_12362_C/T homo ENSG00000198786 missense_variant aCc/aTc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.47) unknown(0) - 5136 m.12363C>T 12363 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12363_C/T homo ENSG00000198786 synonymous_variant acC/acT rs1556424090 LOW SNV MT-ND5 protein_coding - - - 5137 m.12366A>G 12366 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_12366_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5138 m.12367A>G 12367 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12367_A/G homo ENSG00000198786 missense_variant Acc/Gcc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.26) unknown(0) - 5139 m.12372G>A 12372 G A 582 0.080099092 0 0.000000000 7266 0.080099092 MT_12372_G/A homo ENSG00000198786 synonymous_variant ctG/ctA rs2853499 LOW SNV MT-ND5 protein_coding - - likely_pathogenic 5140 m.12373A>G 12373 A G 17 0.002339664 0 0.000000000 7266 0.002339664 MT_12373_A/G homo ENSG00000198786 missense_variant Act/Gct rs1556424095 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.62) unknown(0) - 5141 m.12375T>C 12375 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12375_T/C homo ENSG00000198786 synonymous_variant acT/acC rs1556424097 LOW SNV MT-ND5 protein_coding - - - 5142 m.12378C>T 12378 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12378_C/T homo ENSG00000198786 synonymous_variant tcC/tcT - LOW SNV MT-ND5 protein_coding - - - 5143 m.12379C>T 12379 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12379_C/T heter ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5144 m.12382A>AT 12382 A AT 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12383_-/T heter ENSG00000198786 frameshift_variant att/aTtt - HIGH insertion MT-ND5 protein_coding - - - 5145 m.12382A>C 12382 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12382_A/C homo ENSG00000198786 missense_variant Att/Ctt - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.86) unknown(0) - 5146 m.12383T>C 12383 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12383_T/C heter ENSG00000198786 missense_variant aTt/aCt - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.41) unknown(0) - 5147 m.12384T>C 12384 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12384_T/C homo ENSG00000198786 synonymous_variant atT/atC rs1556424098 LOW SNV MT-ND5 protein_coding - - - 5148 m.12384TC>T 12384 TC T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12385_C/- heter ENSG00000198786 frameshift_variant Ccc/cc - HIGH deletion MT-ND5 protein_coding - - - 5149 m.12390C>T 12390 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12390_C/T homo ENSG00000198786 synonymous_variant ccC/ccT - LOW SNV MT-ND5 protein_coding - - - 5150 m.12392T>C 12392 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12392_T/C heter ENSG00000198786 missense_variant aTc/aCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.05) unknown(0) - 5151 m.12393C>T 12393 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_12393_C/T homo ENSG00000198786 synonymous_variant atC/atT - LOW SNV MT-ND5 protein_coding - - - 5152 m.12396T>C 12396 T C 18 0.002477291 0 0.000000000 7266 0.002477291 MT_12396_T/C homo ENSG00000198786 synonymous_variant ctT/ctC rs200890363 LOW SNV MT-ND5 protein_coding - - - 5153 m.12397A>G 12397 A G 19 0.002614919 0 0.000000000 7266 0.002614919 MT_12397_A/G homo ENSG00000198786 missense_variant Acc/Gcc rs1556424100 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.62) unknown(0) risk_factor,benign 5154 m.12398C>T 12398 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_12398_C/T homo ENSG00000198786 missense_variant aCc/aTc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.51) unknown(0) - 5155 m.12400A>G 12400 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_12400_A/G homo ENSG00000198786 missense_variant Acc/Gcc rs201405598 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.1) unknown(0) - 5156 m.12403C>T 12403 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12403_C/T homo ENSG00000198786 missense_variant Ctc/Ttc rs879096684 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.25) unknown(0) - 5157 m.12405C>A 12405 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12405_C/A homo ENSG00000198786 synonymous_variant ctC/ctA - LOW SNV MT-ND5 protein_coding - - - 5158 m.12405C>T 12405 C T 252 0.034682081 0 0.000000000 7266 0.034682081 MT_12405_C/T homo ENSG00000198786 synonymous_variant ctC/ctT rs1556424102 LOW SNV MT-ND5 protein_coding - - - 5159 m.12406G>A 12406 G A 520 0.071566199 1 0.000137627 7266 0.071703826 MT_12406_G/A homo&heter ENSG00000198786 missense_variant Gtt/Att rs28617389 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.66) benign(0) - 5160 m.12408T>C 12408 T C 30 0.004128819 0 0.000000000 7266 0.004128819 MT_12408_T/C homo ENSG00000198786 synonymous_variant gtT/gtC rs386829157 LOW SNV MT-ND5 protein_coding - - - 5161 m.12410A>G 12410 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12410_A/G homo ENSG00000198786 missense_variant aAc/aGc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.24) benign(0.003) - 5162 m.12411C>T 12411 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12411_C/T homo ENSG00000198786 synonymous_variant aaC/aaT - LOW SNV MT-ND5 protein_coding - - - 5163 m.12414T>C 12414 T C 48 0.006606111 1 0.000137627 7266 0.006743738 MT_12414_T/C homo&heter ENSG00000198786 synonymous_variant ccT/ccC rs193302950 LOW SNV MT-ND5 protein_coding - - - 5167 m.12426C>A 12426 C A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12426_C/A homo ENSG00000198786 missense_variant aaC/aaA rs386829158 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.66) benign(0.161) - 5168 m.12429A>G 12429 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12429_A/G homo ENSG00000198786 synonymous_variant tcA/tcG - LOW SNV MT-ND5 protein_coding - - - 5169 m.12431A>G 12431 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12431_A/G heter ENSG00000198786 missense_variant tAc/tGc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.997) - 5170 m.12432C>T 12432 C T 23 0.003165428 0 0.000000000 7266 0.003165428 MT_12432_C/T homo ENSG00000198786 synonymous_variant taC/taT rs878853046 LOW SNV MT-ND5 protein_coding - - uncertain_significance 5171 m.12435C>A 12435 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12435_C/A homo ENSG00000198786 synonymous_variant ccC/ccA - LOW SNV MT-ND5 protein_coding - - - 5172 m.12438T>C 12438 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_12438_T/C homo ENSG00000198786 synonymous_variant caT/caC - LOW SNV MT-ND5 protein_coding - - - 5173 m.12441T>C 12441 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_12441_T/C homo ENSG00000198786 synonymous_variant taT/taC rs1556424110 LOW SNV MT-ND5 protein_coding - - - 5174 m.12442G>A 12442 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12442_G/A heter ENSG00000198786 missense_variant Gta/Ata - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.02) possibly_damaging(0.801) - 5175 m.12446A>T 12446 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12446_A/T heter ENSG00000198786 missense_variant aAa/aTa - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.997) - 5176 m.12447A>G 12447 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12447_A/G homo ENSG00000198786 synonymous_variant aaA/aaG - LOW SNV MT-ND5 protein_coding - - - 5177 m.12448T>C 12448 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12448_T/C heter ENSG00000198786 missense_variant Tcc/Ccc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) benign(0.198) - 5178 m.12451A>G 12451 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_12451_A/G homo ENSG00000198786 missense_variant Att/Gtt - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.09) benign(0.001) - 5179 m.12452T>C 12452 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12452_T/C heter ENSG00000198786 missense_variant aTt/aCt - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.85) benign(0.003) - 5180 m.12453T>C 12453 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12453_T/C homo ENSG00000198786 synonymous_variant atT/atC - LOW SNV MT-ND5 protein_coding - - - 5181 m.12454G>A 12454 G A 22 0.003027801 0 0.000000000 7266 0.003027801 MT_12454_G/A homo ENSG00000198786 missense_variant Gtc/Atc rs200656196 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.82) benign(0.001) - 5182 m.12457G>A 12457 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12457_G/A heter ENSG00000198786 missense_variant Gca/Aca COSV62292980 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.25) probably_damaging(0.991) - 5183 m.12466T>C 12466 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12466_T/C heter ENSG00000198786 missense_variant Ttt/Ctt - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.04) probably_damaging(0.96) - 5184 m.12468T>C 12468 T C 13 0.001789155 1 0.000137627 7266 0.001926782 MT_12468_T/C homo&heter ENSG00000198786 synonymous_variant ttT/ttC rs1569484519 LOW SNV MT-ND5 protein_coding - - - 5185 m.12469A>G 12469 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12469_A/G homo ENSG00000198786 missense_variant Att/Gtt - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.11) benign(0.014) - 5186 m.12471T>C 12471 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12471_T/C homo ENSG00000198786 synonymous_variant atT/atC - LOW SNV MT-ND5 protein_coding - - - 5187 m.12474C>T 12474 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12474_C/T homo ENSG00000198786 synonymous_variant atC/atT - LOW SNV MT-ND5 protein_coding - - - 5188 m.12477T>C 12477 T C 63 0.008670520 0 0.000000000 7266 0.008670520 MT_12477_T/C homo ENSG00000198786 synonymous_variant agT/agC rs28608480 LOW SNV MT-ND5 protein_coding - - - 5189 m.12478C>T 12478 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12478_C/T heter ENSG00000198786 missense_variant Ctc/Ttc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.994) - 5190 m.12480C>A 12480 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12480_C/A homo ENSG00000198786 synonymous_variant ctC/ctA - LOW SNV MT-ND5 protein_coding - - - 5191 m.12481T>C 12481 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12481_T/C heter ENSG00000198786 missense_variant Ttc/Ctc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.57) benign(0.001) - 5192 m.12483C>T 12483 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12483_C/T homo ENSG00000198786 synonymous_variant ttC/ttT - LOW SNV MT-ND5 protein_coding - - - 5193 m.12486C>T 12486 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12486_C/T homo ENSG00000198786 synonymous_variant ccC/ccT - LOW SNV MT-ND5 protein_coding - - - 5194 m.12489A>G 12489 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12489_A/G homo ENSG00000198786 synonymous_variant acA/acG - LOW SNV MT-ND5 protein_coding - - - 5195 m.12490A>G 12490 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12490_A/G homo ENSG00000198786 missense_variant Aca/Gca - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.17) benign(0.161) - 5196 m.12492AAT>A 12492 AAT A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12493_AT/- heter ENSG00000198786 frameshift_variant ATa/a - HIGH deletion MT-ND5 protein_coding - - - 5197 m.12494T>C 12494 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12494_T/C heter ENSG00000198786 missense_variant aTa/aCa - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.16) benign(0.105) - 5198 m.12498C>T 12498 C T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_12498_C/T homo ENSG00000198786 synonymous_variant ttC/ttT rs1556424120 LOW SNV MT-ND5 protein_coding - - - 5199 m.12501G>A 12501 G A 42 0.005780347 2 0.000275255 7266 0.006055601 MT_12501_G/A homo&heter ENSG00000198786 synonymous_variant atG/atA rs28397767 LOW SNV MT-ND5 protein_coding - - - 5200 m.12501G>C 12501 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12501_G/C homo ENSG00000198786 missense_variant atG/atC - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0) - 5201 m.12502T>C 12502 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12502_T/C heter ENSG00000198786 missense_variant Tgc/Cgc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.26) probably_damaging(0.992) - 5202 m.12505C>T 12505 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12505_C/T heter ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5203 m.12507A>G 12507 A G 27 0.003715937 1 0.000137627 7266 0.003853565 MT_12507_A/G homo&heter ENSG00000198786 synonymous_variant ctA/ctG rs879094131 LOW SNV MT-ND5 protein_coding - - - 5204 m.12508G>A 12508 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12508_G/A heter ENSG00000198786 missense_variant Gac/Aac COSV62294471 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.43) benign(0.006) - 5205 m.12510C>T 12510 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_12510_C/T homo ENSG00000198786 synonymous_variant gaC/gaT rs1556424124 LOW SNV MT-ND5 protein_coding - - - 5206 m.12512A>T 12512 A T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_12512_A/T homo ENSG00000198786 missense_variant cAa/cTa - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.11) probably_damaging(0.945) - 5207 m.12517G>A 12517 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_12517_G/A homo&heter ENSG00000198786 missense_variant Gtt/Att - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.14) benign(0.005) - 5208 m.12519T>C 12519 T C 120 0.016515277 0 0.000000000 7266 0.016515277 MT_12519_T/C homo ENSG00000198786 synonymous_variant gtT/gtC rs28359171 LOW SNV MT-ND5 protein_coding - - - 5209 m.12520A>G 12520 A G 2 0.000275255 2 0.000275255 7266 0.000550509 MT_12520_A/G homo&heter ENSG00000198786 missense_variant Att/Gtt - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.31) probably_damaging(0.943) - 5210 m.12522T>C 12522 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12522_T/C homo ENSG00000198786 synonymous_variant atT/atC - LOW SNV MT-ND5 protein_coding - - - 5211 m.12523A>G 12523 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12523_A/G homo ENSG00000198786 missense_variant Atc/Gtc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.23) benign(0.011) - 5212 m.12525C>T 12525 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12525_C/T homo ENSG00000198786 synonymous_variant atC/atT - LOW SNV MT-ND5 protein_coding - - - 5213 m.12528G>A 12528 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12528_G/A homo ENSG00000198786 synonymous_variant tcG/tcA rs1569484520 LOW SNV MT-ND5 protein_coding - - - 5214 m.12530A>G 12530 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12530_A/G homo ENSG00000198786 missense_variant aAc/aGc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.09) benign(0.056) - 5215 m.12531C>T 12531 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12531_C/T homo ENSG00000198786 synonymous_variant aaC/aaT - LOW SNV MT-ND5 protein_coding - - - 5216 m.12533G>A 12533 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12533_G/A heter ENSG00000198786 stop_gained tGa/tAa - HIGH SNV MT-ND5 protein_coding - - - 5217 m.12534A>G 12534 A G 12 0.001651528 0 0.000000000 7266 0.001651528 MT_12534_A/G homo ENSG00000198786 synonymous_variant tgA/tgG - LOW SNV MT-ND5 protein_coding - - - 5218 m.12535C>T 12535 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_12535_C/T homo ENSG00000198786 missense_variant Cac/Tac rs876661356 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) possibly_damaging(0.685) uncertain_significance,benign 5219 m.12540A>G 12540 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12540_A/G homo ENSG00000198786 synonymous_variant tgA/tgG - LOW SNV MT-ND5 protein_coding - - - 5220 m.12541G>A 12541 G A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12541_G/A homo ENSG00000198786 missense_variant Gcc/Acc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.21) benign(0.007) - 5221 m.12542C>T 12542 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_12542_C/T homo ENSG00000198786 missense_variant gCc/gTc rs201922401 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.12) benign(0.265) - 5222 m.12543C>T 12543 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12543_C/T heter ENSG00000198786 synonymous_variant gcC/gcT - LOW SNV MT-ND5 protein_coding - - - 5223 m.12544A>G 12544 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12544_A/G homo ENSG00000198786 missense_variant Aca/Gca - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.02) benign(0.033) - 5224 m.12545C>T 12545 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_12545_C/T homo ENSG00000198786 missense_variant aCa/aTa - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.06) probably_damaging(0.955) - 5225 m.12546A>T 12546 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12546_A/T homo ENSG00000198786 synonymous_variant acA/acT - LOW SNV MT-ND5 protein_coding - - - 5226 m.12549C>T 12549 C T 70 0.009633911 0 0.000000000 7266 0.009633911 MT_12549_C/T homo ENSG00000198786 synonymous_variant acC/acT - LOW SNV MT-ND5 protein_coding - - - 5227 m.12557C>T 12557 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_12557_C/T homo ENSG00000198786 missense_variant aCc/aTc rs1556424125 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.34) benign(0.005) - 5228 m.12561G>A 12561 G A 66 0.009083402 1 0.000137627 7266 0.009221029 MT_12561_G/A homo&heter ENSG00000198786 synonymous_variant caG/caA rs28759201 LOW SNV MT-ND5 protein_coding - - - 5229 m.12562C>T 12562 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12562_C/T homo ENSG00000198786 missense_variant Ctc/Ttc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.998) - 5230 m.12563T>C 12563 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12563_T/C heter ENSG00000198786 missense_variant cTc/cCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 5231 m.12564C>T 12564 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12564_C/T homo ENSG00000198786 synonymous_variant ctC/ctT - LOW SNV MT-ND5 protein_coding - - - 5232 m.12570A>G 12570 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12570_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5233 m.12572G>A 12572 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12572_G/A heter ENSG00000198786 missense_variant aGc/aAc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.09) probably_damaging(0.99) - 5234 m.12582A>G 12582 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_12582_A/G homo&heter ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5235 m.12585C>T 12585 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12585_C/T homo ENSG00000198786 synonymous_variant gaC/gaT - LOW SNV MT-ND5 protein_coding - - - 5236 m.12588C>T 12588 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_12588_C/T homo ENSG00000198786 synonymous_variant taC/taT - LOW SNV MT-ND5 protein_coding - - - 5237 m.12589T>C 12589 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12589_T/C heter ENSG00000198786 missense_variant Ttc/Ctc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.99) - 5238 m.12591C>T 12591 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12591_C/T homo ENSG00000198786 synonymous_variant ttC/ttT - LOW SNV MT-ND5 protein_coding - - - 5239 m.12599T>C 12599 T C 4 0.000550509 1 0.000137627 7266 0.000688137 MT_12599_T/C homo&heter ENSG00000198786 missense_variant aTa/aCa rs1556424129 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.13) benign(0.003) - 5240 m.12602T>C 12602 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12602_T/C heter ENSG00000198786 missense_variant tTc/tCc COSV62293737 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 5241 m.12603C>T 12603 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12603_C/T homo ENSG00000198786 synonymous_variant ttC/ttT - LOW SNV MT-ND5 protein_coding - - - 5242 m.12605T>C 12605 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12605_T/C heter ENSG00000198786 missense_variant aTc/aCc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.86) benign(0.027) - 5243 m.12609T>C 12609 T C 19 0.002614919 1 0.000137627 7266 0.002752546 MT_12609_T/C homo&heter ENSG00000198786 synonymous_variant ccT/ccC rs367601393 LOW SNV MT-ND5 protein_coding - - - 5244 m.12612A>G 12612 A G 112 0.015414258 0 0.000000000 7266 0.015414258 MT_12612_A/G homo ENSG00000198786 synonymous_variant gtA/gtG rs28359172 LOW SNV MT-ND5 protein_coding - - - 5245 m.12612A>T 12612 A T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12612_A/T homo ENSG00000198786 synonymous_variant gtA/gtT - LOW SNV MT-ND5 protein_coding - - - 5246 m.12615A>G 12615 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12615_A/G homo ENSG00000198786 synonymous_variant gcA/gcG - LOW SNV MT-ND5 protein_coding - - - 5247 m.12616T>C 12616 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_12616_T/C homo ENSG00000198786 synonymous_variant Ttg/Ctg rs1556424132 LOW SNV MT-ND5 protein_coding - - - 5248 m.12618G>A 12618 G A 69 0.009496284 1 0.000137627 7266 0.009633911 MT_12618_G/A homo&heter ENSG00000198786 synonymous_variant ttG/ttA rs878955011,COSV62294215 LOW SNV MT-ND5 protein_coding - - - 5249 m.12621C>T 12621 C T 42 0.005780347 0 0.000000000 7266 0.005780347 MT_12621_C/T homo ENSG00000198786 synonymous_variant ttC/ttT - LOW SNV MT-ND5 protein_coding - - - 5250 m.12622G>A 12622 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12622_G/A homo ENSG00000198786 missense_variant Gtt/Att - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.2) benign(0.041) - 5251 m.12624T>C 12624 T C 7 0.000963391 1 0.000137627 7266 0.001101018 MT_12624_T/C homo&heter ENSG00000198786 synonymous_variant gtT/gtC rs1569484523 LOW SNV MT-ND5 protein_coding - - - 5252 m.12630G>A 12630 G A 69 0.009496284 2 0.000275255 7266 0.009771539 MT_12630_G/A homo&heter ENSG00000198786 synonymous_variant tgG/tgA rs41445245,COSV62293475 LOW SNV MT-ND5 protein_coding - - - 5253 m.12633C>A 12633 C A 20 0.002752546 0 0.000000000 7266 0.002752546 MT_12633_C/A homo ENSG00000198786 synonymous_variant tcC/tcA rs3926883 LOW SNV MT-ND5 protein_coding - - - 5254 m.12633C>T 12633 C T 40 0.005505092 0 0.000000000 7266 0.005505092 MT_12633_C/T homo ENSG00000198786 synonymous_variant tcC/tcT - LOW SNV MT-ND5 protein_coding - - - 5255 m.12634A>G 12634 A G 22 0.003027801 0 0.000000000 7266 0.003027801 MT_12634_A/G homo ENSG00000198786 missense_variant Atc/Gtc rs1556424136 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.943) - 5256 m.12636C>T 12636 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_12636_C/T homo ENSG00000198786 synonymous_variant atC/atT rs1556424137 LOW SNV MT-ND5 protein_coding - - - 5257 m.12639A>G 12639 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12639_A/G homo ENSG00000198786 synonymous_variant atA/atG - LOW SNV MT-ND5 protein_coding - - - 5258 m.12640G>A 12640 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12640_G/A heter ENSG00000198786 missense_variant Gaa/Aaa - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.994) - 5259 m.12642A>G 12642 A G 3 0.000412882 3 0.000412882 7266 0.000825764 MT_12642_A/G homo&heter ENSG00000198786 synonymous_variant gaA/gaG rs879096210 LOW SNV MT-ND5 protein_coding - - - 5260 m.12645C>T 12645 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12645_C/T homo ENSG00000198786 synonymous_variant ttC/ttT - LOW SNV MT-ND5 protein_coding - - - 5261 m.12648A>G 12648 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_12648_A/G homo ENSG00000198786 synonymous_variant tcA/tcG - LOW SNV MT-ND5 protein_coding - - - 5262 m.12651G>A 12651 G A 21 0.002890173 0 0.000000000 7266 0.002890173 MT_12651_G/A homo ENSG00000198786 synonymous_variant ctG/ctA rs386829161 LOW SNV MT-ND5 protein_coding - - - 5263 m.12651G>C 12651 G C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12651_G/C homo ENSG00000198786 synonymous_variant ctG/ctC - LOW SNV MT-ND5 protein_coding - - - 5264 m.12654A>G 12654 A G 35 0.004816956 3 0.000412882 7266 0.005229838 MT_12654_A/G homo&heter ENSG00000198786 synonymous_variant tgA/tgG rs386829162 LOW SNV MT-ND5 protein_coding - - - 5265 m.12661A>G 12661 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12661_A/G homo ENSG00000198786 missense_variant Aac/Gac - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) benign(0.003) - 5266 m.12661A>T 12661 A T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_12661_A/T homo ENSG00000198786 missense_variant Aac/Tac - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.05) benign(0.181) - 5267 m.12662A>G 12662 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_12662_A/G homo ENSG00000198786 missense_variant aAc/aGc rs879105366 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.1) benign(0.082) - 5268 m.12666A>C 12666 A C 17 0.002339664 0 0.000000000 7266 0.002339664 MT_12666_A/C homo ENSG00000198786 synonymous_variant tcA/tcC - LOW SNV MT-ND5 protein_coding - - - 5269 m.12667G>A 12667 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_12667_G/A heter ENSG00000198786 missense_variant Gac/Aac - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 5270 m.12669C>T 12669 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12669_C/T homo ENSG00000198786 synonymous_variant gaC/gaT rs41369547 LOW SNV MT-ND5 protein_coding - - - 5271 m.12672A>G 12672 A G 37 0.005092210 0 0.000000000 7266 0.005092210 MT_12672_A/G homo ENSG00000198786 synonymous_variant ccA/ccG - LOW SNV MT-ND5 protein_coding - - - 5272 m.12674A>G 12674 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12674_A/G homo ENSG00000198786 missense_variant aAc/aGc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.04) probably_damaging(0.994) - 5273 m.12675C>T 12675 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12675_C/T homo ENSG00000198786 synonymous_variant aaC/aaT - LOW SNV MT-ND5 protein_coding - - - 5274 m.12678T>C 12678 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_12678_T/C homo ENSG00000198786 synonymous_variant atT/atC rs878890757 LOW SNV MT-ND5 protein_coding - - - 5275 m.12681T>C 12681 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_12681_T/C homo ENSG00000198786 synonymous_variant aaT/aaC rs878853080 LOW SNV MT-ND5 protein_coding - - likely_benign 5276 m.12683A>G 12683 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12683_A/G heter ENSG00000198786 missense_variant cAg/cGg - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) probably_damaging(0.986) - 5277 m.12684G>A 12684 G A 8 0.001101018 0 0.000000000 7266 0.001101018 MT_12684_G/A homo ENSG00000198786 synonymous_variant caG/caA rs28410409,COSV62293960 LOW SNV MT-ND5 protein_coding - - - 5278 m.12687C>T 12687 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12687_C/T homo ENSG00000198786 synonymous_variant ttC/ttT - LOW SNV MT-ND5 protein_coding - - - 5279 m.12690C>T 12690 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12690_C/T homo ENSG00000198786 synonymous_variant ttC/ttT - LOW SNV MT-ND5 protein_coding - - - 5280 m.12692A>G 12692 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12692_A/G heter ENSG00000198786 stop_gained aAa/aGa - HIGH SNV MT-ND5 protein_coding - - - 5281 m.12693A>G 12693 A G 199 0.027387834 0 0.000000000 7266 0.027387834 MT_12693_A/G homo ENSG00000198786 synonymous_variant aaA/aaG rs28359173 LOW SNV MT-ND5 protein_coding - - - 5282 m.12693A>T 12693 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12693_A/T heter ENSG00000198786 missense_variant aaA/aaT - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.997) - 5283 m.12696T>C 12696 T C 23 0.003165428 3 0.000412882 7266 0.003578310 MT_12696_T/C homo&heter ENSG00000198786 synonymous_variant taT/taC rs1556424148 LOW SNV MT-ND5 protein_coding - - - 5284 m.12698T>C 12698 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12698_T/C heter ENSG00000198786 missense_variant cTa/cCa - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 5285 m.12699A>G 12699 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_12699_A/G homo&heter ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5286 m.12705C>T 12705 C T 4615 0.635150014 0 0.000000000 7266 0.635150014 MT_12705_C/T homo ENSG00000198786 synonymous_variant atC/atT rs193302956,COSV62293963 LOW SNV MT-ND5 protein_coding - - - 5287 m.12709C>T 12709 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12709_C/T homo ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5288 m.12712A>G 12712 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12712_A/G homo ENSG00000198786 missense_variant Att/Gtt - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.28) benign(0.036) - 5289 m.12714T>C 12714 T C 56 0.007707129 0 0.000000000 7266 0.007707129 MT_12714_T/C homo ENSG00000198786 synonymous_variant atT/atC rs386829163 LOW SNV MT-ND5 protein_coding - - - 5290 m.12715A>G 12715 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_12715_A/G homo ENSG00000198786 missense_variant Acc/Gcc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.36) probably_damaging(0.978) - 5291 m.12717C>A 12717 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12717_C/A homo ENSG00000198786 synonymous_variant acC/acA - LOW SNV MT-ND5 protein_coding - - - 5292 m.12717C>T 12717 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_12717_C/T homo ENSG00000198786 synonymous_variant acC/acT - LOW SNV MT-ND5 protein_coding - - - 5293 m.12720A>G 12720 A G 55 0.007569502 0 0.000000000 7266 0.007569502 MT_12720_A/G homo ENSG00000198786 synonymous_variant atA/atG rs2853500 LOW SNV MT-ND5 protein_coding - - - 5294 m.12726C>T 12726 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12726_C/T homo ENSG00000198786 synonymous_variant atC/atT - LOW SNV MT-ND5 protein_coding - - - 5295 m.12727T>C 12727 T C 17 0.002339664 0 0.000000000 7266 0.002339664 MT_12727_T/C homo ENSG00000198786 synonymous_variant Tta/Cta rs1556424156 LOW SNV MT-ND5 protein_coding - - - 5296 m.12729A>G 12729 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12729_A/G homo ENSG00000198786 synonymous_variant ttA/ttG - LOW SNV MT-ND5 protein_coding - - - 5297 m.12732T>C 12732 T C 33 0.004541701 0 0.000000000 7266 0.004541701 MT_12732_T/C homo ENSG00000198786 synonymous_variant gtT/gtC rs879130718 LOW SNV MT-ND5 protein_coding - - - 5298 m.12735C>A 12735 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12735_C/A homo ENSG00000198786 synonymous_variant acC/acA - LOW SNV MT-ND5 protein_coding - - - 5299 m.12736G>A 12736 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12736_G/A heter ENSG00000198786 missense_variant Gct/Act COSV62293552 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 5300 m.12738T>C 12738 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_12738_T/C homo&heter ENSG00000198786 synonymous_variant gcT/gcC rs376006500 LOW SNV MT-ND5 protein_coding - - - 5301 m.12741C>T 12741 C T 12 0.001651528 0 0.000000000 7266 0.001651528 MT_12741_C/T homo ENSG00000198786 synonymous_variant aaC/aaT rs1556424160 LOW SNV MT-ND5 protein_coding - - - 5302 m.12745C>T 12745 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12745_C/T homo ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5303 m.12747A>G 12747 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12747_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5304 m.12750C>T 12750 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12750_C/T heter ENSG00000198786 synonymous_variant ttC/ttT - LOW SNV MT-ND5 protein_coding - - - 5305 m.12753A>G 12753 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_12753_A/G homo ENSG00000198786 synonymous_variant caA/caG - LOW SNV MT-ND5 protein_coding - - - 5306 m.12756G>A 12756 G A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12756_G/A homo ENSG00000198786 synonymous_variant ctG/ctA COSV62293312 LOW SNV MT-ND5 protein_coding - - - 5307 m.12757T>C 12757 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12757_T/C homo ENSG00000198786 missense_variant Ttc/Ctc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.99) - 5308 m.12759C>T 12759 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12759_C/T heter ENSG00000198786 synonymous_variant ttC/ttT - LOW SNV MT-ND5 protein_coding - - - 5309 m.12760A>G 12760 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12760_A/G heter ENSG00000198786 missense_variant Atc/Gtc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.03) probably_damaging(0.943) - 5310 m.12768A>G 12768 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_12768_A/G homo ENSG00000198786 synonymous_variant tgA/tgG rs28591518 LOW SNV MT-ND5 protein_coding - - - 5311 m.12770A>G 12770 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_12770_A/G heter ENSG00000198786 missense_variant gAg/gGg rs267606894 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.996) pathogenic 5312 m.12771G>A 12771 G A 105 0.014450867 4 0.000550509 7266 0.015001376 MT_12771_G/A homo&heter ENSG00000198786 synonymous_variant gaG/gaA rs878865822,COSV62293212 LOW SNV MT-ND5 protein_coding - - - 5313 m.12773G>A 12773 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12773_G/A heter ENSG00000198786 missense_variant gGc/gAc COSV62294446 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 5314 m.12774C>T 12774 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12774_C/T homo ENSG00000198786 synonymous_variant ggC/ggT - LOW SNV MT-ND5 protein_coding - - - 5315 m.12775G>A 12775 G A 0 0.000000000 4 0.000550509 7266 0.000550509 MT_12775_G/A heter ENSG00000198786 missense_variant Gta/Ata - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.03) probably_damaging(0.998) - 5316 m.12777A>G 12777 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12777_A/G homo ENSG00000198786 synonymous_variant gtA/gtG - LOW SNV MT-ND5 protein_coding - - - 5317 m.12780A>G 12780 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_12780_A/G homo ENSG00000198786 synonymous_variant ggA/ggG rs1556424169 LOW SNV MT-ND5 protein_coding - - - 5318 m.12781A>G 12781 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12781_A/G homo ENSG00000198786 missense_variant Att/Gtt rs1569484533 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.943) - 5319 m.12783T>C 12783 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12783_T/C homo ENSG00000198786 synonymous_variant atT/atC - LOW SNV MT-ND5 protein_coding - - - 5320 m.12785T>C 12785 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12785_T/C heter ENSG00000198786 missense_variant aTa/aCa - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.967) - 5321 m.12786A>G 12786 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12786_A/G homo ENSG00000198786 synonymous_variant atA/atG - LOW SNV MT-ND5 protein_coding - - - 5322 m.12789C>A 12789 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12789_C/A homo ENSG00000198786 synonymous_variant tcC/tcA - LOW SNV MT-ND5 protein_coding - - - 5323 m.12792C>T 12792 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12792_C/T homo ENSG00000198786 synonymous_variant ttC/ttT - LOW SNV MT-ND5 protein_coding - - - 5324 m.12793T>C 12793 T C 20 0.002752546 0 0.000000000 7266 0.002752546 MT_12793_T/C homo ENSG00000198786 synonymous_variant Ttg/Ctg - LOW SNV MT-ND5 protein_coding - - - 5325 m.12795G>A 12795 G A 11 0.001513900 1 0.000137627 7266 0.001651528 MT_12795_G/A homo&heter ENSG00000198786 synonymous_variant ttG/ttA rs1556424173 LOW SNV MT-ND5 protein_coding - - - 5326 m.12797T>C 12797 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12797_T/C heter ENSG00000198786 missense_variant cTc/cCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 5327 m.12799A>G 12799 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12799_A/G heter ENSG00000198786 missense_variant Atc/Gtc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.943) - 5328 m.12800T>C 12800 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12800_T/C heter ENSG00000198786 missense_variant aTc/aCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.99) - 5329 m.12804T>C 12804 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_12804_T/C homo ENSG00000198786 synonymous_variant agT/agC rs1556424175 LOW SNV MT-ND5 protein_coding - - - 5330 m.12807A>C 12807 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12807_A/C heter ENSG00000198786 missense_variant tgA/tgC - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 5331 m.12810A>G 12810 A G 91 0.012524085 1 0.000137627 7266 0.012661712 MT_12810_A/G homo&heter ENSG00000198786 synonymous_variant tgA/tgG rs28359174 LOW SNV MT-ND5 protein_coding - - likely_benign 5332 m.12811T>C 12811 T C 248 0.034131572 0 0.000000000 7266 0.034131572 MT_12811_T/C homo ENSG00000198786 missense_variant Tac/Cac rs199974018 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.34) benign(0.011) pathogenic,uncertain_significance,benign 5333 m.12812A>G 12812 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_12812_A/G heter ENSG00000198786 missense_variant tAc/tGc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) benign(0.011) - 5334 m.12813C>T 12813 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_12813_C/T homo ENSG00000198786 synonymous_variant taC/taT - LOW SNV MT-ND5 protein_coding - - - 5335 m.12814G>A 12814 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_12814_G/A heter ENSG00000198786 missense_variant Gcc/Acc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.998) - 5336 m.12815C>G 12815 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12815_C/G homo ENSG00000198786 missense_variant gCc/gGc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) probably_damaging(0.997) - 5337 m.12816C>T 12816 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12816_C/T homo ENSG00000198786 synonymous_variant gcC/gcT - LOW SNV MT-ND5 protein_coding - - - 5338 m.12820G>A 12820 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12820_G/A homo ENSG00000198786 missense_variant Gca/Aca rs200567053 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0) - 5339 m.12822A>G 12822 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12822_A/G homo ENSG00000198786 synonymous_variant gcA/gcG rs878904866,COSV62293198 LOW SNV MT-ND5 protein_coding - - - 5340 m.12831C>T 12831 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12831_C/T homo ENSG00000198786 synonymous_variant aaC/aaT - LOW SNV MT-ND5 protein_coding - - - 5341 m.12835G>A 12835 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12835_G/A heter ENSG00000198786 missense_variant Gca/Aca - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 5342 m.12840C>T 12840 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12840_C/T homo ENSG00000198786 synonymous_variant gcC/gcT - LOW SNV MT-ND5 protein_coding - - - 5343 m.12842T>C 12842 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12842_T/C homo ENSG00000198786 missense_variant aTt/aCt - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) benign(0.265) - 5344 m.12843T>A 12843 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12843_T/A homo ENSG00000198786 missense_variant atT/atA - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.06) benign(0.08) - 5345 m.12846A>G 12846 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12846_A/G homo ENSG00000198786 synonymous_variant caA/caG - LOW SNV MT-ND5 protein_coding - - - 5346 m.12850A>G 12850 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_12850_A/G homo ENSG00000198786 missense_variant Atc/Gtc rs28705385 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.66) probably_damaging(0.943) - 5347 m.12851T>C 12851 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_12851_T/C heter ENSG00000198786 missense_variant aTc/aCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.99) - 5348 m.12852C>T 12852 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12852_C/T homo ENSG00000198786 synonymous_variant atC/atT - LOW SNV MT-ND5 protein_coding - - - 5349 m.12853C>T 12853 C T 3 0.000412882 1 0.000137627 7266 0.000550509 MT_12853_C/T homo&heter ENSG00000198786 synonymous_variant Cta/Tta rs28689615 LOW SNV MT-ND5 protein_coding - - - 5350 m.12855A>G 12855 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12855_A/G homo ENSG00000198786 synonymous_variant ctA/ctG rs1556424178 LOW SNV MT-ND5 protein_coding - - - 5351 m.12858C>T 12858 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_12858_C/T homo ENSG00000198786 synonymous_variant taC/taT rs879012050 LOW SNV MT-ND5 protein_coding - - - 5352 m.12864T>C 12864 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_12864_T/C homo ENSG00000198786 synonymous_variant cgT/cgC - LOW SNV MT-ND5 protein_coding - - - 5353 m.12865A>G 12865 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12865_A/G homo ENSG00000198786 missense_variant Atc/Gtc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.31) probably_damaging(0.943) - 5354 m.12866T>C 12866 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12866_T/C heter ENSG00000198786 missense_variant aTc/aCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.99) - 5355 m.12867C>T 12867 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12867_C/T homo ENSG00000198786 synonymous_variant atC/atT - LOW SNV MT-ND5 protein_coding - - - 5356 m.12868G>A 12868 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12868_G/A heter ENSG00000198786 missense_variant Ggc/Agc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 5357 m.12870C>T 12870 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_12870_C/T homo ENSG00000198786 synonymous_variant ggC/ggT - LOW SNV MT-ND5 protein_coding - - - 5358 m.12872A>G 12872 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12872_A/G heter ENSG00000198786 missense_variant gAt/gGt - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 5359 m.12873T>C 12873 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_12873_T/C homo ENSG00000198786 synonymous_variant gaT/gaC - LOW SNV MT-ND5 protein_coding - - - 5360 m.12877G>A 12877 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_12877_G/A heter ENSG00000198786 missense_variant Ggt/Agt - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 5361 m.12879T>C 12879 T C 42 0.005780347 0 0.000000000 7266 0.005780347 MT_12879_T/C homo ENSG00000198786 synonymous_variant ggT/ggC rs1556424182 LOW SNV MT-ND5 protein_coding - - - 5362 m.12880T>C 12880 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_12880_T/C homo&heter ENSG00000198786 missense_variant Ttc/Ctc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.61) probably_damaging(0.99) - 5363 m.12882C>T 12882 C T 511 0.070327553 0 0.000000000 7266 0.070327553 MT_12882_C/T homo ENSG00000198786 synonymous_variant ttC/ttT rs386420001 LOW SNV MT-ND5 protein_coding - - - 5364 m.12883A>G 12883 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12883_A/G homo ENSG00000198786 missense_variant Atc/Gtc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.12) benign(0.007) - 5365 m.12888C>A 12888 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12888_C/A homo ENSG00000198786 synonymous_variant ctC/ctA - LOW SNV MT-ND5 protein_coding - - - 5366 m.12891C>T 12891 C T 15 0.002064410 0 0.000000000 7266 0.002064410 MT_12891_C/T homo ENSG00000198786 synonymous_variant gcC/gcT rs1569484542 LOW SNV MT-ND5 protein_coding - - - 5367 m.12892T>C 12892 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_12892_T/C homo&heter ENSG00000198786 synonymous_variant Tta/Cta - LOW SNV MT-ND5 protein_coding - - - 5368 m.12894A>G 12894 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12894_A/G homo ENSG00000198786 synonymous_variant ttA/ttG - LOW SNV MT-ND5 protein_coding - - - 5369 m.12897A>G 12897 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12897_A/G homo ENSG00000198786 synonymous_variant gcA/gcG - LOW SNV MT-ND5 protein_coding - - - 5370 m.12899G>A 12899 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12899_G/A heter ENSG00000198786 stop_gained tGa/tAa - HIGH SNV MT-ND5 protein_coding - - - 5371 m.12900A>G 12900 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12900_A/G homo ENSG00000198786 synonymous_variant tgA/tgG - LOW SNV MT-ND5 protein_coding - - - 5372 m.12903T>C 12903 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_12903_T/C homo ENSG00000198786 synonymous_variant ttT/ttC rs878853027 LOW SNV MT-ND5 protein_coding - - uncertain_significance 5373 m.12904A>G 12904 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_12904_A/G homo ENSG00000198786 missense_variant Atc/Gtc rs386829168 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.07) benign(0.01) - 5374 m.12905T>G 12905 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12905_T/G homo ENSG00000198786 missense_variant aTc/aGc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.04) benign(0.09) - 5375 m.12906C>A 12906 C A 12 0.001651528 0 0.000000000 7266 0.001651528 MT_12906_C/A homo ENSG00000198786 missense_variant atC/atA - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.41) benign(0.052) - 5376 m.12906C>T 12906 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_12906_C/T homo ENSG00000198786 synonymous_variant atC/atT rs28690070 LOW SNV MT-ND5 protein_coding - - - 5377 m.12909A>G 12909 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_12909_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5378 m.12910C>T 12910 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12910_C/T heter ENSG00000198786 missense_variant Cac/Tac - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.15) probably_damaging(0.986) - 5379 m.12936A>G 12936 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12936_A/G homo ENSG00000198786 synonymous_variant caA/caG - LOW SNV MT-ND5 protein_coding - - - 5380 m.12939A>G 12939 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12939_A/G homo ENSG00000198786 synonymous_variant atA/atG rs879072385 LOW SNV MT-ND5 protein_coding - - - 5381 m.12940G>A 12940 G A 23 0.003165428 0 0.000000000 7266 0.003165428 MT_12940_G/A homo ENSG00000198786 missense_variant Gcc/Acc rs200106331,COSV62293631 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) benign(0.003) - 5382 m.12945T>C 12945 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12945_T/C homo ENSG00000198786 synonymous_variant ctT/ctC - LOW SNV MT-ND5 protein_coding - - - 5383 m.12946C>T 12946 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12946_C/T heter ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5384 m.12948A>G 12948 A G 37 0.005092210 0 0.000000000 7266 0.005092210 MT_12948_A/G homo ENSG00000198786 synonymous_variant ctA/ctG rs1569484548 LOW SNV MT-ND5 protein_coding - - - 5385 m.12950A>C 12950 A C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12950_A/C homo ENSG00000198786 missense_variant aAc/aCc rs201361958 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.14) benign(0.317) - 5386 m.12950A>G 12950 A G 51 0.007018993 0 0.000000000 7266 0.007018993 MT_12950_A/G homo ENSG00000198786 missense_variant aAc/aGc rs201361958 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.64) benign(0.035) - 5387 m.12952G>A 12952 G A 1 0.000137627 2 0.000275255 7266 0.000412882 MT_12952_G/A homo&heter ENSG00000198786 missense_variant Gct/Act - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.69) benign(0.003) - 5388 m.12954T>C 12954 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_12954_T/C homo ENSG00000198786 synonymous_variant gcT/gcC rs878875112,COSV62294180 LOW SNV MT-ND5 protein_coding - - - 5389 m.12957T>C 12957 T C 55 0.007569502 1 0.000137627 7266 0.007707129 MT_12957_T/C homo&heter ENSG00000198786 synonymous_variant aaT/aaC rs879047389,COSV62294492 LOW SNV MT-ND5 protein_coding - - - 5390 m.12961A>G 12961 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12961_A/G homo ENSG00000198786 missense_variant Agc/Ggc rs386829171 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.04) benign(0.056) - 5391 m.12963C>T 12963 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12963_C/T homo ENSG00000198786 synonymous_variant agC/agT - LOW SNV MT-ND5 protein_coding - - - 5392 m.12966C>A 12966 C A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12966_C/A homo ENSG00000198786 synonymous_variant ctC/ctA - LOW SNV MT-ND5 protein_coding - - - 5393 m.12967A>G 12967 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12967_A/G homo ENSG00000198786 missense_variant Acc/Gcc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.02) benign(0.089) - 5394 m.12972A>C 12972 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12972_A/C homo ENSG00000198786 synonymous_variant ccA/ccC - LOW SNV MT-ND5 protein_coding - - - 5395 m.12972A>G 12972 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12972_A/G homo ENSG00000198786 synonymous_variant ccA/ccG rs879068938 LOW SNV MT-ND5 protein_coding - - - 5396 m.12973C>T 12973 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12973_C/T homo ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5397 m.12975A>G 12975 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_12975_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5398 m.12975A>T 12975 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12975_A/T homo ENSG00000198786 synonymous_variant ctA/ctT - LOW SNV MT-ND5 protein_coding - - - 5399 m.12976C>T 12976 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_12976_C/T homo ENSG00000198786 synonymous_variant Cta/Tta rs1569484553 LOW SNV MT-ND5 protein_coding - - - 5400 m.12988C>T 12988 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12988_C/T homo ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5401 m.12990A>G 12990 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_12990_A/G homo&heter ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5402 m.12991G>A 12991 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_12991_G/A heter ENSG00000198786 missense_variant Gca/Aca COSV62293623 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 5403 m.12996A>G 12996 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_12996_A/G homo&heter ENSG00000198786 synonymous_variant gcA/gcG - LOW SNV MT-ND5 protein_coding - - - 5404 m.12999A>G 12999 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_12999_A/G homo ENSG00000198786 synonymous_variant gcA/gcG - LOW SNV MT-ND5 protein_coding - - - 5405 m.13000G>A 13000 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13000_G/A heter ENSG00000198786 missense_variant Ggc/Agc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 5406 m.13001G>C 13001 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13001_G/C homo ENSG00000198786 missense_variant gGc/gCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.999) - 5407 m.13005A>G 13005 A G 6 0.000825764 1 0.000137627 7266 0.000963391 MT_13005_A/G homo&heter ENSG00000198786 synonymous_variant aaA/aaG - LOW SNV MT-ND5 protein_coding - - - 5408 m.13006T>C 13006 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13006_T/C heter ENSG00000198786 missense_variant Tca/Cca - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 5409 m.13008A>G 13008 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13008_A/G homo ENSG00000198786 synonymous_variant tcA/tcG - LOW SNV MT-ND5 protein_coding - - - 5410 m.13011C>T 13011 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13011_C/T homo ENSG00000198786 synonymous_variant gcC/gcT - LOW SNV MT-ND5 protein_coding - - - 5411 m.13015T>C 13015 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_13015_T/C homo ENSG00000198786 synonymous_variant Tta/Cta rs1556424201 LOW SNV MT-ND5 protein_coding - - - 5412 m.13016T>C 13016 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13016_T/C heter ENSG00000198786 missense_variant tTa/tCa - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 5413 m.13017A>G 13017 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_13017_A/G homo ENSG00000198786 synonymous_variant ttA/ttG - LOW SNV MT-ND5 protein_coding - - - 5414 m.13020T>A 13020 T A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13020_T/A homo ENSG00000198786 synonymous_variant ggT/ggA - LOW SNV MT-ND5 protein_coding - - - 5415 m.13020T>C 13020 T C 35 0.004816956 2 0.000275255 7266 0.005092210 MT_13020_T/C homo&heter ENSG00000198786 synonymous_variant ggT/ggC rs75577869 LOW SNV MT-ND5 protein_coding - - - 5416 m.13023C>T 13023 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13023_C/T homo ENSG00000198786 synonymous_variant ctC/ctT - LOW SNV MT-ND5 protein_coding - - - 5417 m.13029C>T 13029 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13029_C/T homo ENSG00000198786 synonymous_variant ccC/ccT rs28448767 LOW SNV MT-ND5 protein_coding - - - 5418 m.13030T>C 13030 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13030_T/C heter ENSG00000198786 missense_variant Tga/Cga - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 5419 m.13032A>G 13032 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13032_A/G homo ENSG00000198786 synonymous_variant tgA/tgG rs386829172 LOW SNV MT-ND5 protein_coding - - - 5420 m.13034T>C 13034 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13034_T/C heter ENSG00000198786 missense_variant cTc/cCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 5421 m.13038C>A 13038 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13038_C/A homo ENSG00000198786 synonymous_variant ccC/ccA - LOW SNV MT-ND5 protein_coding - - - 5422 m.13038C>T 13038 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13038_C/T homo ENSG00000198786 synonymous_variant ccC/ccT - LOW SNV MT-ND5 protein_coding - - - 5423 m.13042G>A 13042 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13042_G/A heter ENSG00000198786 missense_variant Gcc/Acc rs267606898,COSV62292993 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) pathogenic 5424 m.13044C>G 13044 C G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13044_C/G homo ENSG00000198786 synonymous_variant gcC/gcG - LOW SNV MT-ND5 protein_coding - - - 5425 m.13044C>T 13044 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_13044_C/T homo ENSG00000198786 synonymous_variant gcC/gcT - LOW SNV MT-ND5 protein_coding - - - 5426 m.13050A>G 13050 A G 18 0.002477291 1 0.000137627 7266 0.002614919 MT_13050_A/G homo&heter ENSG00000198786 synonymous_variant gaA/gaG rs1556424206 LOW SNV MT-ND5 protein_coding - - - 5427 m.13053C>T 13053 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13053_C/T homo ENSG00000198786 synonymous_variant ggC/ggT - LOW SNV MT-ND5 protein_coding - - - 5428 m.13056C>T 13056 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13056_C/T homo ENSG00000198786 synonymous_variant ccC/ccT rs1556424208 LOW SNV MT-ND5 protein_coding - - - 5429 m.13061CA>C 13061 CA C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13062_A/- heter ENSG00000198786 frameshift_variant ccA/cc - HIGH deletion MT-ND5 protein_coding - - - 5430 m.13062A>C 13062 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13062_A/C homo ENSG00000198786 synonymous_variant ccA/ccC - LOW SNV MT-ND5 protein_coding - - - 5431 m.13062A>G 13062 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13062_A/G homo ENSG00000198786 synonymous_variant ccA/ccG rs28670513 LOW SNV MT-ND5 protein_coding - - - 5432 m.13063G>A 13063 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13063_G/A heter ENSG00000198786 missense_variant Gtc/Atc COSV62292981 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.986) - 5433 m.13064T>C 13064 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13064_T/C heter ENSG00000198786 missense_variant gTc/gCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.992) - 5434 m.13065C>T 13065 C T 2 0.000275255 1 0.000137627 7266 0.000412882 MT_13065_C/T homo&heter ENSG00000198786 synonymous_variant gtC/gtT rs28533150 LOW SNV MT-ND5 protein_coding - - - 5435 m.13069G>A 13069 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_13069_G/A heter ENSG00000198786 missense_variant Gcc/Acc COSV62293315 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 5436 m.13071C>T 13071 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13071_C/T heter ENSG00000198786 synonymous_variant gcC/gcT - LOW SNV MT-ND5 protein_coding - - - 5437 m.13074A>G 13074 A G 28 0.003853565 0 0.000000000 7266 0.003853565 MT_13074_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5438 m.13077C>T 13077 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13077_C/T homo ENSG00000198786 synonymous_variant ctC/ctT COSV62293318 LOW SNV MT-ND5 protein_coding - - - 5439 m.13080C>T 13080 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13080_C/T homo ENSG00000198786 synonymous_variant caC/caT - LOW SNV MT-ND5 protein_coding - - - 5440 m.13083A>G 13083 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13083_A/G homo ENSG00000198786 synonymous_variant tcA/tcG - LOW SNV MT-ND5 protein_coding - - - 5441 m.13092A>G 13092 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_13092_A/G homo&heter ENSG00000198786 synonymous_variant atA/atG rs879103212 LOW SNV MT-ND5 protein_coding - - - 5442 m.13093G>A 13093 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13093_G/A heter ENSG00000198786 missense_variant Gtt/Att - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.986) - 5443 m.13095T>C 13095 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13095_T/C homo ENSG00000198786 synonymous_variant gtT/gtC rs28477492 LOW SNV MT-ND5 protein_coding - - - 5444 m.13097T>C 13097 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13097_T/C heter ENSG00000198786 missense_variant gTa/gCa - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.992) - 5445 m.13098A>G 13098 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_13098_A/G homo ENSG00000198786 synonymous_variant gtA/gtG rs1556424217 LOW SNV MT-ND5 protein_coding - - - 5446 m.13098A>T 13098 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13098_A/T homo ENSG00000198786 synonymous_variant gtA/gtT - LOW SNV MT-ND5 protein_coding - - - 5447 m.13099G>A 13099 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13099_G/A heter ENSG00000198786 missense_variant Gca/Aca - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 5448 m.13101A>C 13101 A C 25 0.003440683 0 0.000000000 7266 0.003440683 MT_13101_A/C homo ENSG00000198786 synonymous_variant gcA/gcC rs1556424219 LOW SNV MT-ND5 protein_coding - - - 5449 m.13101A>G 13101 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13101_A/G homo ENSG00000198786 synonymous_variant gcA/gcG - LOW SNV MT-ND5 protein_coding - - - 5450 m.13101A>T 13101 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13101_A/T homo ENSG00000198786 synonymous_variant gcA/gcT - LOW SNV MT-ND5 protein_coding - - - 5451 m.13104A>G 13104 A G 82 0.011285439 0 0.000000000 7266 0.011285439 MT_13104_A/G homo ENSG00000198786 synonymous_variant ggA/ggG rs878871104 LOW SNV MT-ND5 protein_coding - - - 5452 m.13105A>G 13105 A G 482 0.066336361 4 0.000550509 7266 0.066886870 MT_13105_A/G homo&heter ENSG00000198786 missense_variant Atc/Gtc rs2853501,COSV62294516 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.49) benign(0.007) - 5453 m.13111T>C 13111 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_13111_T/C homo ENSG00000198786 synonymous_variant Tta/Cta rs1556424221 LOW SNV MT-ND5 protein_coding - - - 5454 m.13113A>G 13113 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13113_A/G homo ENSG00000198786 synonymous_variant ttA/ttG - LOW SNV MT-ND5 protein_coding - - - 5455 m.13116C>T 13116 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_13116_C/T homo ENSG00000198786 synonymous_variant ctC/ctT COSV62293695 LOW SNV MT-ND5 protein_coding - - - 5456 m.13117A>G 13117 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13117_A/G homo ENSG00000198786 missense_variant Atc/Gtc rs878966690 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.11) probably_damaging(0.943) - 5457 m.13122C>T 13122 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13122_C/T homo ENSG00000198786 synonymous_variant cgC/cgT - LOW SNV MT-ND5 protein_coding - - - 5458 m.13124T>C 13124 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13124_T/C heter ENSG00000198786 missense_variant tTc/tCc COSV62293756 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) possibly_damaging(0.758) - 5459 m.13125C>T 13125 C T 2 0.000275255 1 0.000137627 7266 0.000412882 MT_13125_C/T homo&heter ENSG00000198786 synonymous_variant ttC/ttT - LOW SNV MT-ND5 protein_coding - - - 5460 m.13127A>AC 13127 A AC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13128_-/C heter ENSG00000198786 frameshift_variant cac/caCc - HIGH insertion MT-ND5 protein_coding - - - 5461 m.13131C>T 13131 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13131_C/T homo ENSG00000198786 synonymous_variant ccC/ccT - LOW SNV MT-ND5 protein_coding - - - 5462 m.13132C>T 13132 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13132_C/T homo ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5463 m.13132CT>C 13132 CT C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13133_T/- heter ENSG00000198786 frameshift_variant cTa/ca - HIGH deletion MT-ND5 protein_coding - - - 5464 m.13133T>C 13133 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13133_T/C heter ENSG00000198786 missense_variant cTa/cCa - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 5465 m.13134A>G 13134 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_13134_A/G homo&heter ENSG00000198786 synonymous_variant ctA/ctG rs1556424224 LOW SNV MT-ND5 protein_coding - - - 5466 m.13135G>A 13135 G A 125 0.017203413 0 0.000000000 7266 0.017203413 MT_13135_G/A homo ENSG00000198786 missense_variant Gca/Aca rs200044200 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.25) benign(0.011) - 5467 m.13140A>G 13140 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_13140_A/G homo&heter ENSG00000198786 synonymous_variant gaA/gaG - LOW SNV MT-ND5 protein_coding - - - 5468 m.13143T>C 13143 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_13143_T/C homo ENSG00000198786 synonymous_variant aaT/aaC rs386829174 LOW SNV MT-ND5 protein_coding - - - 5469 m.13145G>A 13145 G A 40 0.005505092 5 0.000688137 7266 0.006193229 MT_13145_G/A homo&heter ENSG00000198786 missense_variant aGc/aAc rs386829175 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0.003) - 5470 m.13149A>G 13149 A G 17 0.002339664 0 0.000000000 7266 0.002339664 MT_13149_A/G homo ENSG00000198786 synonymous_variant ccA/ccG rs1569484564 LOW SNV MT-ND5 protein_coding - - - 5471 m.13150C>T 13150 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13150_C/T homo ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5472 m.13152A>G 13152 A G 69 0.009496284 0 0.000000000 7266 0.009496284 MT_13152_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5473 m.13153A>G 13153 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_13153_A/G homo ENSG00000198786 missense_variant Atc/Gtc rs878957731 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.22) benign(0.007) - 5474 m.13154T>C 13154 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_13154_T/C homo&heter ENSG00000198786 missense_variant aTc/aCc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.08) benign(0.265) - 5475 m.13158A>G 13158 A G 13 0.001789155 0 0.000000000 7266 0.001789155 MT_13158_A/G homo ENSG00000198786 synonymous_variant caA/caG rs1556424229 LOW SNV MT-ND5 protein_coding - - - 5476 m.13159A>G 13159 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13159_A/G heter ENSG00000198786 missense_variant Act/Gct - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.994) - 5477 m.13161T>C 13161 T C 11 0.001513900 1 0.000137627 7266 0.001651528 MT_13161_T/C homo&heter ENSG00000198786 synonymous_variant acT/acC - LOW SNV MT-ND5 protein_coding - - - 5478 m.13164A>G 13164 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13164_A/G homo ENSG00000198786 synonymous_variant ctA/ctG rs1556424230 LOW SNV MT-ND5 protein_coding - - - 5479 m.13165A>G 13165 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13165_A/G heter ENSG00000198786 missense_variant Aca/Gca - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.64) benign(0.033) - 5480 m.13167A>G 13167 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13167_A/G homo ENSG00000198786 synonymous_variant acA/acG rs1569484567 LOW SNV MT-ND5 protein_coding - - - 5481 m.13168C>T 13168 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13168_C/T homo ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5482 m.13169T>C 13169 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13169_T/C heter ENSG00000198786 missense_variant cTa/cCa - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 5483 m.13170A>G 13170 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_13170_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5484 m.13174T>C 13174 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13174_T/C homo ENSG00000198786 synonymous_variant Tta/Cta rs1556424231 LOW SNV MT-ND5 protein_coding - - - 5485 m.13177G>A 13177 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13177_G/A heter ENSG00000198786 missense_variant Ggc/Agc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 5486 m.13182T>C 13182 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_13182_T/C homo ENSG00000198786 synonymous_variant gcT/gcC rs1569484568 LOW SNV MT-ND5 protein_coding - - - 5487 m.13183A>G 13183 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13183_A/G homo ENSG00000198786 missense_variant Atc/Gtc rs879155747 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.03) benign(0.011) - 5488 m.13184T>C 13184 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_13184_T/C homo&heter ENSG00000198786 missense_variant aTc/aCc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.09) possibly_damaging(0.456) - 5489 m.13188C>T 13188 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13188_C/T homo ENSG00000198786 synonymous_variant acC/acT rs879224282 LOW SNV MT-ND5 protein_coding - - - 5490 m.13191T>C 13191 T C 15 0.002064410 2 0.000275255 7266 0.002339664 MT_13191_T/C homo&heter ENSG00000198786 synonymous_variant acT/acC - LOW SNV MT-ND5 protein_coding - - - 5491 m.13192C>T 13192 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13192_C/T homo ENSG00000198786 synonymous_variant Ctg/Ttg rs386829176 LOW SNV MT-ND5 protein_coding - - - 5492 m.13194G>A 13194 G A 64 0.008808148 0 0.000000000 7266 0.008808148 MT_13194_G/A homo ENSG00000198786 synonymous_variant ctG/ctA rs1556424235 LOW SNV MT-ND5 protein_coding - - - 5493 m.13197C>T 13197 C T 21 0.002890173 0 0.000000000 7266 0.002890173 MT_13197_C/T homo ENSG00000198786 synonymous_variant ttC/ttT rs1569484572 LOW SNV MT-ND5 protein_coding - - - 5494 m.13201G>A 13201 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_13201_G/A heter ENSG00000198786 missense_variant Gca/Aca - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 5495 m.13203A>C 13203 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13203_A/C homo ENSG00000198786 synonymous_variant gcA/gcC COSV62293535 LOW SNV MT-ND5 protein_coding - - - 5496 m.13203A>G 13203 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13203_A/G homo ENSG00000198786 synonymous_variant gcA/gcG rs878885400,COSV62293535 LOW SNV MT-ND5 protein_coding - - - 5497 m.13204G>A 13204 G A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13204_G/A homo ENSG00000198786 missense_variant Gtc/Atc COSV62293739 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0.007) - 5498 m.13208G>A 13208 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_13208_G/A heter ENSG00000198786 missense_variant tGc/tAc COSV99053427 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 5499 m.13209C>T 13209 C T 4 0.000550509 1 0.000137627 7266 0.000688137 MT_13209_C/T homo&heter ENSG00000198786 synonymous_variant tgC/tgT - LOW SNV MT-ND5 protein_coding - - - 5500 m.13212C>T 13212 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_13212_C/T homo ENSG00000198786 synonymous_variant gcC/gcT rs1556424241 LOW SNV MT-ND5 protein_coding - - likely_benign 5501 m.13215T>A 13215 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13215_T/A homo ENSG00000198786 synonymous_variant ctT/ctA COSV62293130 LOW SNV MT-ND5 protein_coding - - - 5502 m.13215T>C 13215 T C 13 0.001789155 1 0.000137627 7266 0.001926782 MT_13215_T/C homo&heter ENSG00000198786 synonymous_variant ctT/ctC rs386419958,COSV62293130 LOW SNV MT-ND5 protein_coding - - - 5503 m.13221A>G 13221 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13221_A/G homo ENSG00000198786 synonymous_variant caA/caG - LOW SNV MT-ND5 protein_coding - - - 5504 m.13224T>C 13224 T C 4 0.000550509 1 0.000137627 7266 0.000688137 MT_13224_T/C homo&heter ENSG00000198786 synonymous_variant aaT/aaC - LOW SNV MT-ND5 protein_coding - - - 5505 m.13225G>A 13225 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13225_G/A homo ENSG00000198786 missense_variant Gac/Aac - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 5506 m.13227C>T 13227 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13227_C/T homo ENSG00000198786 synonymous_variant gaC/gaT - LOW SNV MT-ND5 protein_coding - - - 5507 m.13230C>T 13230 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13230_C/T homo ENSG00000198786 synonymous_variant atC/atT - LOW SNV MT-ND5 protein_coding - - - 5508 m.13230CA>C 13230 CA C 0 0.000000000 3 0.000412882 7266 0.000412882 MT_13231_A/- heter ENSG00000198786 frameshift_variant Aaa/aa - HIGH deletion MT-ND5 protein_coding - - - 5509 m.13236A>G 13236 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13236_A/G homo ENSG00000198786 synonymous_variant aaA/aaG - LOW SNV MT-ND5 protein_coding - - - 5510 m.13239C>T 13239 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13239_C/T homo ENSG00000198786 synonymous_variant atC/atT - LOW SNV MT-ND5 protein_coding - - - 5511 m.13243G>T 13243 G T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13243_G/T heter ENSG00000198786 missense_variant Gcc/Tcc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.997) - 5512 m.13245C>A 13245 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13245_C/A homo ENSG00000198786 synonymous_variant gcC/gcA - LOW SNV MT-ND5 protein_coding - - - 5513 m.13246T>C 13246 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13246_T/C homo ENSG00000198786 missense_variant Ttc/Ctc rs1556424250 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.99) - 5514 m.13251C>T 13251 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13251_C/T homo ENSG00000198786 synonymous_variant tcC/tcT rs879111156 LOW SNV MT-ND5 protein_coding - - - 5515 m.13254T>C 13254 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_13254_T/C homo ENSG00000198786 synonymous_variant acT/acC rs372462497 LOW SNV MT-ND5 protein_coding - - - 5516 m.13260T>C 13260 T C 36 0.004954583 2 0.000275255 7266 0.005229838 MT_13260_T/C homo&heter ENSG00000198786 synonymous_variant agT/agC - LOW SNV MT-ND5 protein_coding - - - 5517 m.13263A>G 13263 A G 249 0.034269199 1 0.000137627 7266 0.034406826 MT_13263_A/G homo&heter ENSG00000198786 synonymous_variant caA/caG rs28359175 LOW SNV MT-ND5 protein_coding - - - 5518 m.13266A>G 13266 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_13266_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5519 m.13269A>G 13269 A G 82 0.011285439 0 0.000000000 7266 0.011285439 MT_13269_A/G homo ENSG00000198786 synonymous_variant ggA/ggG rs28604589 LOW SNV MT-ND5 protein_coding - - - 5520 m.13272C>T 13272 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13272_C/T homo ENSG00000198786 synonymous_variant ctC/ctT - LOW SNV MT-ND5 protein_coding - - - 5521 m.13276A>G 13276 A G 53 0.007294247 1 0.000137627 7266 0.007431874 MT_13276_A/G homo&heter ENSG00000198786 missense_variant Ata/Gta rs2853502 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.02) benign(0.005) - 5522 m.13278A>G 13278 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_13278_A/G homo ENSG00000198786 synonymous_variant atA/atG - LOW SNV MT-ND5 protein_coding - - - 5523 m.13281T>C 13281 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_13281_T/C homo ENSG00000198786 synonymous_variant gtT/gtC rs879154628,COSV62378256 LOW SNV MT-ND5 protein_coding - - - 5524 m.13285A>G 13285 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13285_A/G homo ENSG00000198786 missense_variant Atc/Gtc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.09) probably_damaging(0.943) - 5525 m.13287C>T 13287 C T 15 0.002064410 0 0.000000000 7266 0.002064410 MT_13287_C/T homo ENSG00000198786 synonymous_variant atC/atT rs1556424257 LOW SNV MT-ND5 protein_coding - - - 5526 m.13288G>A 13288 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13288_G/A heter ENSG00000198786 missense_variant Ggc/Agc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 5527 m.13289G>A 13289 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13289_G/A heter ENSG00000198786 missense_variant gGc/gAc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 5528 m.13290C>T 13290 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13290_C/T homo ENSG00000198786 synonymous_variant ggC/ggT - LOW SNV MT-ND5 protein_coding - - - 5529 m.13292T>C 13292 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13292_T/C heter ENSG00000198786 missense_variant aTc/aCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.99) - 5530 m.13293C>T 13293 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13293_C/T homo ENSG00000198786 synonymous_variant atC/atT rs1556424259 LOW SNV MT-ND5 protein_coding - - - 5531 m.13299A>G 13299 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_13299_A/G homo ENSG00000198786 synonymous_variant caA/caG - LOW SNV MT-ND5 protein_coding - - - 5532 m.13302A>G 13302 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13302_A/G homo ENSG00000198786 synonymous_variant ccA/ccG - LOW SNV MT-ND5 protein_coding - - - 5533 m.13305C>T 13305 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13305_C/T homo ENSG00000198786 synonymous_variant caC/caT - LOW SNV MT-ND5 protein_coding - - - 5534 m.13306C>T 13306 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13306_C/T homo ENSG00000198786 synonymous_variant Cta/Tta rs28564743 LOW SNV MT-ND5 protein_coding - - - 5535 m.13308A>G 13308 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13308_A/G homo ENSG00000198786 synonymous_variant ctA/ctG rs386829178 LOW SNV MT-ND5 protein_coding - - - 5536 m.13320C>T 13320 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_13320_C/T homo ENSG00000198786 synonymous_variant caC/caT - LOW SNV MT-ND5 protein_coding - - - 5537 m.13322T>C 13322 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13322_T/C homo ENSG00000198786 missense_variant aTc/aCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.99) - 5538 m.13323C>T 13323 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13323_C/T homo ENSG00000198786 synonymous_variant atC/atT - LOW SNV MT-ND5 protein_coding - - - 5539 m.13326T>C 13326 T C 28 0.003853565 1 0.000137627 7266 0.003991192 MT_13326_T/C homo&heter ENSG00000198786 synonymous_variant tgT/tgC rs878889334,COSV62377774 LOW SNV MT-ND5 protein_coding - - - 5540 m.13327A>G 13327 A G 4 0.000550509 1 0.000137627 7266 0.000688137 MT_13327_A/G homo&heter ENSG00000198786 missense_variant Acc/Gcc rs1556424263 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.994) - 5541 m.13327A>T 13327 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13327_A/T homo ENSG00000198786 missense_variant Acc/Tcc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.994) - 5542 m.13328C>T 13328 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13328_C/T heter ENSG00000198786 missense_variant aCc/aTc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 5543 m.13329C>T 13329 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_13329_C/T homo ENSG00000198786 synonymous_variant acC/acT rs1569484578 LOW SNV MT-ND5 protein_coding - - - 5544 m.13333G>A 13333 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13333_G/A heter ENSG00000198786 missense_variant Gcc/Acc COSV62378187 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.998) - 5545 m.13335C>T 13335 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13335_C/T homo ENSG00000198786 synonymous_variant gcC/gcT rs28612966 LOW SNV MT-ND5 protein_coding - - - 5546 m.13336T>C 13336 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13336_T/C heter ENSG00000198786 missense_variant Ttc/Ctc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.99) - 5547 m.13345G>A 13345 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13345_G/A heter ENSG00000198786 missense_variant Gcc/Acc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 5548 m.13347C>T 13347 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13347_C/T homo ENSG00000198786 synonymous_variant gcC/gcT rs1556424264 LOW SNV MT-ND5 protein_coding - - - 5549 m.13350A>G 13350 A G 14 0.001926782 0 0.000000000 7266 0.001926782 MT_13350_A/G homo ENSG00000198786 synonymous_variant atA/atG rs879224236 LOW SNV MT-ND5 protein_coding - - - 5550 m.13352T>C 13352 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13352_T/C heter ENSG00000198786 missense_variant cTa/cCa COSV62378265 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 5551 m.13353A>G 13353 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_13353_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5552 m.13356T>C 13356 T C 8 0.001101018 1 0.000137627 7266 0.001238646 MT_13356_T/C homo&heter ENSG00000198786 synonymous_variant ttT/ttC - LOW SNV MT-ND5 protein_coding - - - 5553 m.13359G>A 13359 G A 13 0.001789155 0 0.000000000 7266 0.001789155 MT_13359_G/A homo ENSG00000198786 synonymous_variant atG/atA rs1556424268,COSV62378116 LOW SNV MT-ND5 protein_coding - - - 5554 m.13365C>T 13365 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13365_C/T homo ENSG00000198786 synonymous_variant tcC/tcT - LOW SNV MT-ND5 protein_coding - - - 5555 m.13368G>A 13368 G A 107 0.014726122 0 0.000000000 7266 0.014726122 MT_13368_G/A homo ENSG00000198786 synonymous_variant ggG/ggA rs3899498 LOW SNV MT-ND5 protein_coding - - - 5556 m.13368G>C 13368 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13368_G/C homo ENSG00000198786 synonymous_variant ggG/ggC - LOW SNV MT-ND5 protein_coding - - - 5557 m.13369T>C 13369 T C 0 0.000000000 4 0.000550509 7266 0.000550509 MT_13369_T/C heter ENSG00000198786 missense_variant Tcc/Ccc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 5558 m.13370C>T 13370 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13370_C/T heter ENSG00000198786 missense_variant tCc/tTc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 5559 m.13371C>T 13371 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13371_C/T homo ENSG00000198786 synonymous_variant tcC/tcT - LOW SNV MT-ND5 protein_coding - - - 5560 m.13374C>T 13374 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13374_C/T homo ENSG00000198786 synonymous_variant atC/atT - LOW SNV MT-ND5 protein_coding - - - 5561 m.13377C>T 13377 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13377_C/T homo ENSG00000198786 synonymous_variant atC/atT - LOW SNV MT-ND5 protein_coding - - - 5562 m.13380C>T 13380 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13380_C/T homo ENSG00000198786 synonymous_variant caC/caT - LOW SNV MT-ND5 protein_coding - - - 5563 m.13383C>T 13383 C T 19 0.002614919 0 0.000000000 7266 0.002614919 MT_13383_C/T homo ENSG00000198786 synonymous_variant aaC/aaT - LOW SNV MT-ND5 protein_coding - - - 5564 m.13386T>C 13386 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13386_T/C homo ENSG00000198786 synonymous_variant ctT/ctC - LOW SNV MT-ND5 protein_coding - - - 5565 m.13391A>G 13391 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13391_A/G heter ENSG00000198786 missense_variant aAt/aGt - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.994) - 5566 m.13392T>C 13392 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13392_T/C homo ENSG00000198786 synonymous_variant aaT/aaC rs375947030 LOW SNV MT-ND5 protein_coding - - - 5567 m.13395A>G 13395 A G 42 0.005780347 0 0.000000000 7266 0.005780347 MT_13395_A/G homo ENSG00000198786 synonymous_variant gaA/gaG rs386829179 LOW SNV MT-ND5 protein_coding - - - 5568 m.13398A>G 13398 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13398_A/G homo ENSG00000198786 synonymous_variant caA/caG - LOW SNV MT-ND5 protein_coding - - - 5569 m.13401T>C 13401 T C 12 0.001651528 1 0.000137627 7266 0.001789155 MT_13401_T/C homo&heter ENSG00000198786 synonymous_variant gaT/gaC rs28379170 LOW SNV MT-ND5 protein_coding - - - 5570 m.13404T>C 13404 T C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_13404_T/C homo ENSG00000198786 synonymous_variant atT/atC rs1556424275 LOW SNV MT-ND5 protein_coding - - - 5571 m.13406G>A 13406 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13406_G/A heter ENSG00000198786 missense_variant cGa/cAa COSV62378024 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.993) - 5572 m.13407A>G 13407 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_13407_A/G homo ENSG00000198786 synonymous_variant cgA/cgG rs372140505 LOW SNV MT-ND5 protein_coding - - - 5573 m.13413A>G 13413 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13413_A/G homo ENSG00000198786 synonymous_variant atA/atG - LOW SNV MT-ND5 protein_coding - - - 5574 m.13416A>G 13416 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13416_A/G homo ENSG00000198786 synonymous_variant ggA/ggG - LOW SNV MT-ND5 protein_coding - - - 5575 m.13419A>G 13419 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13419_A/G homo ENSG00000198786 synonymous_variant ggA/ggG - LOW SNV MT-ND5 protein_coding - - - 5576 m.13419A>T 13419 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13419_A/T homo ENSG00000198786 synonymous_variant ggA/ggT - LOW SNV MT-ND5 protein_coding - - - 5577 m.13422A>G 13422 A G 21 0.002890173 0 0.000000000 7266 0.002890173 MT_13422_A/G homo ENSG00000198786 synonymous_variant ctA/ctG rs386829180 LOW SNV MT-ND5 protein_coding - - - 5578 m.13431C>T 13431 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13431_C/T homo ENSG00000198786 synonymous_variant acC/acT rs879088265 LOW SNV MT-ND5 protein_coding - - - 5579 m.13432A>C 13432 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13432_A/C heter ENSG00000198786 missense_variant Ata/Cta - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0.005) - 5580 m.13434A>G 13434 A G 35 0.004816956 1 0.000137627 7266 0.004954583 MT_13434_A/G homo&heter ENSG00000198786 synonymous_variant atA/atG - LOW SNV MT-ND5 protein_coding - - - 5581 m.13437T>C 13437 T C 24 0.003303055 3 0.000412882 7266 0.003715937 MT_13437_T/C homo&heter ENSG00000198786 synonymous_variant ccT/ccC rs386829181 LOW SNV MT-ND5 protein_coding - - - 5582 m.13440C>T 13440 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13440_C/T homo ENSG00000198786 synonymous_variant ctC/ctT rs879201736 LOW SNV MT-ND5 protein_coding - - - 5583 m.13443T>C 13443 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_13443_T/C homo ENSG00000198786 synonymous_variant acT/acC rs1556424279 LOW SNV MT-ND5 protein_coding - - - 5584 m.13449C>T 13449 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_13449_C/T homo ENSG00000198786 synonymous_variant acC/acT - LOW SNV MT-ND5 protein_coding - - - 5585 m.13455C>T 13455 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13455_C/T homo ENSG00000198786 synonymous_variant ctC/ctT - LOW SNV MT-ND5 protein_coding - - - 5586 m.13457C>T 13457 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13457_C/T homo ENSG00000198786 missense_variant aCc/aTc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0.01) - 5587 m.13458C>T 13458 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13458_C/T homo ENSG00000198786 synonymous_variant acC/acT - LOW SNV MT-ND5 protein_coding - - - 5588 m.13461T>C 13461 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13461_T/C homo ENSG00000198786 synonymous_variant atT/atC - LOW SNV MT-ND5 protein_coding - - - 5589 m.13462G>A 13462 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13462_G/A heter ENSG00000198786 missense_variant Ggc/Agc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) benign(0.233) - 5590 m.13465A>T 13465 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13465_A/T homo ENSG00000198786 missense_variant Agc/Tgc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.05) probably_damaging(0.929) - 5591 m.13466G>A 13466 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13466_G/A heter ENSG00000198786 missense_variant aGc/aAc rs3902404 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.12) benign(0.02) - 5592 m.13468C>T 13468 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13468_C/T homo ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5593 m.13470A>G 13470 A G 31 0.004266446 2 0.000275255 7266 0.004541701 MT_13470_A/G homo&heter ENSG00000198786 synonymous_variant ctA/ctG rs370875951 LOW SNV MT-ND5 protein_coding - - - 5594 m.13473A>G 13473 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13473_A/G homo ENSG00000198786 synonymous_variant gcA/gcG - LOW SNV MT-ND5 protein_coding - - - 5595 m.13474T>C 13474 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_13474_T/C homo ENSG00000198786 synonymous_variant Tta/Cta rs373303503 LOW SNV MT-ND5 protein_coding - - - 5596 m.13477G>A 13477 G A 22 0.003027801 0 0.000000000 7266 0.003027801 MT_13477_G/A homo ENSG00000198786 missense_variant Gca/Aca rs200283691 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0.007) - 5597 m.13482A>G 13482 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13482_A/G homo ENSG00000198786 synonymous_variant ggA/ggG - LOW SNV MT-ND5 protein_coding - - - 5598 m.13482A>T 13482 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13482_A/T heter ENSG00000198786 synonymous_variant ggA/ggT - LOW SNV MT-ND5 protein_coding - - - 5599 m.13485A>G 13485 A G 54 0.007431874 2 0.000275255 7266 0.007707129 MT_13485_A/G homo&heter ENSG00000198786 synonymous_variant atA/atG rs28359176 LOW SNV MT-ND5 protein_coding - - likely_benign 5600 m.13488T>C 13488 T C 31 0.004266446 0 0.000000000 7266 0.004266446 MT_13488_T/C homo ENSG00000198786 synonymous_variant ccT/ccC rs878853050 LOW SNV MT-ND5 protein_coding - - likely_benign 5601 m.13491C>T 13491 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13491_C/T homo ENSG00000198786 synonymous_variant ttC/ttT - LOW SNV MT-ND5 protein_coding - - - 5602 m.13493T>C 13493 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13493_T/C heter ENSG00000198786 missense_variant cTc/cCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.952) - 5603 m.13494C>T 13494 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_13494_C/T homo ENSG00000198786 synonymous_variant ctC/ctT - LOW SNV MT-ND5 protein_coding - - - 5604 m.13497A>G 13497 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_13497_A/G homo ENSG00000198786 synonymous_variant acA/acG - LOW SNV MT-ND5 protein_coding - - - 5605 m.13500T>C 13500 T C 46 0.006330856 2 0.000275255 7266 0.006606111 MT_13500_T/C homo&heter ENSG00000198786 synonymous_variant ggT/ggC rs879066842 LOW SNV MT-ND5 protein_coding - - - 5606 m.13502T>A 13502 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13502_T/A homo ENSG00000198786 missense_variant tTc/tAc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.99) - 5607 m.13504T>C 13504 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13504_T/C heter ENSG00000198786 missense_variant Tac/Cac - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) benign(0.033) - 5608 m.13506C>T 13506 C T 232 0.031929535 0 0.000000000 7266 0.031929535 MT_13506_C/T homo ENSG00000198786 synonymous_variant taC/taT rs2857287 LOW SNV MT-ND5 protein_coding - - - 5609 m.13509C>T 13509 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13509_C/T homo ENSG00000198786 synonymous_variant tcC/tcT - LOW SNV MT-ND5 protein_coding - - - 5610 m.13512A>G 13512 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13512_A/G homo ENSG00000198786 synonymous_variant aaA/aaG rs878930809,COSV62377991 LOW SNV MT-ND5 protein_coding - - - 5611 m.13515C>T 13515 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13515_C/T homo ENSG00000198786 synonymous_variant gaC/gaT - LOW SNV MT-ND5 protein_coding - - - 5612 m.13522A>G 13522 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13522_A/G heter ENSG00000198786 missense_variant Atc/Gtc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.943) - 5613 m.13527A>G 13527 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13527_A/G homo ENSG00000198786 synonymous_variant gaA/gaG - LOW SNV MT-ND5 protein_coding - - - 5614 m.13528A>G 13528 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_13528_A/G homo ENSG00000198786 missense_variant Acc/Gcc rs55882959 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) probably_damaging(0.994) benign,uncertain_significance 5615 m.13532C>T 13532 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13532_C/T homo ENSG00000198786 missense_variant gCa/gTa COSV62378564 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) probably_damaging(0.997) - 5616 m.13533A>G 13533 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13533_A/G homo ENSG00000198786 synonymous_variant gcA/gcG - LOW SNV MT-ND5 protein_coding - - - 5617 m.13535A>G 13535 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13535_A/G homo ENSG00000198786 missense_variant aAc/aGc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.04) benign(0.015) - 5618 m.13539A>G 13539 A G 11 0.001513900 0 0.000000000 7266 0.001513900 MT_13539_A/G homo ENSG00000198786 synonymous_variant atA/atG - LOW SNV MT-ND5 protein_coding - - - 5619 m.13542A>C 13542 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13542_A/C homo ENSG00000198786 synonymous_variant tcA/tcC - LOW SNV MT-ND5 protein_coding - - - 5620 m.13542A>G 13542 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_13542_A/G homo ENSG00000198786 synonymous_variant tcA/tcG rs386829182 LOW SNV MT-ND5 protein_coding - - - 5621 m.13543T>C 13543 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13543_T/C heter ENSG00000198786 missense_variant Tac/Cac - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.19) benign(0.009) - 5622 m.13547C>T 13547 C T 5 0.000688137 1 0.000137627 7266 0.000825764 MT_13547_C/T homo&heter ENSG00000198786 missense_variant aCa/aTa - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.03) benign(0.028) - 5623 m.13552G>A 13552 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_13552_G/A homo&heter ENSG00000198786 missense_variant Gcc/Acc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.1) benign(0.018) - 5624 m.13556G>A 13556 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13556_G/A heter ENSG00000198786 stop_gained tGa/tAa COSV62377676 HIGH SNV MT-ND5 protein_coding - - - 5625 m.13557A>G 13557 A G 11 0.001513900 0 0.000000000 7266 0.001513900 MT_13557_A/G homo ENSG00000198786 synonymous_variant tgA/tgG rs1556424287 LOW SNV MT-ND5 protein_coding - - - 5626 m.13558G>A 13558 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13558_G/A heter ENSG00000198786 missense_variant Gcc/Acc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.991) - 5627 m.13562T>C 13562 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13562_T/C heter ENSG00000198786 missense_variant cTa/cCa - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.996) - 5628 m.13562T>G 13562 T G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13562_T/G heter ENSG00000198786 missense_variant cTa/cGa - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.996) - 5629 m.13563A>G 13563 A G 130 0.017891550 0 0.000000000 7266 0.017891550 MT_13563_A/G homo ENSG00000198786 synonymous_variant ctA/ctG rs386829183 LOW SNV MT-ND5 protein_coding - - - 5630 m.13565C>T 13565 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_13565_C/T homo ENSG00000198786 missense_variant tCt/tTt rs56039545 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.11) probably_damaging(0.992) - 5631 m.13569T>C 13569 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13569_T/C homo ENSG00000198786 synonymous_variant atT/atC - LOW SNV MT-ND5 protein_coding - - - 5632 m.13575C>T 13575 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_13575_C/T homo ENSG00000198786 synonymous_variant ctC/ctT rs1556424294 LOW SNV MT-ND5 protein_coding - - - 5633 m.13577T>C 13577 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13577_T/C heter ENSG00000198786 missense_variant aTc/aCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.04) probably_damaging(0.963) - 5634 m.13578C>T 13578 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_13578_C/T homo ENSG00000198786 synonymous_variant atC/atT - LOW SNV MT-ND5 protein_coding - - - 5635 m.13579G>A 13579 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_13579_G/A heter ENSG00000198786 missense_variant Gct/Act - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.991) - 5636 m.13581T>C 13581 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_13581_T/C homo ENSG00000198786 synonymous_variant gcT/gcC - LOW SNV MT-ND5 protein_coding - - - 5637 m.13583C>T 13583 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13583_C/T homo ENSG00000198786 missense_variant aCc/aTc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.994) - 5638 m.13584C>T 13584 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_13584_C/T homo&heter ENSG00000198786 synonymous_variant acC/acT - LOW SNV MT-ND5 protein_coding - - - 5639 m.13585T>C 13585 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13585_T/C heter ENSG00000198786 missense_variant Tcc/Ccc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.981) - 5640 m.13590G>A 13590 G A 612 0.084227911 1 0.000137627 7266 0.084365538 MT_13590_G/A homo&heter ENSG00000198786 synonymous_variant ctG/ctA rs28359177 LOW SNV MT-ND5 protein_coding - - - 5641 m.13602T>C 13602 T C 44 0.006055601 1 0.000137627 7266 0.006193229 MT_13602_T/C homo&heter ENSG00000198786 synonymous_variant taT/taC rs386829185 LOW SNV MT-ND5 protein_coding - - - 5642 m.13604G>A 13604 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13604_G/A heter ENSG00000198786 missense_variant aGc/aAc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.99) - 5643 m.13608T>C 13608 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_13608_T/C homo&heter ENSG00000198786 synonymous_variant acT/acC - LOW SNV MT-ND5 protein_coding - - - 5644 m.13611A>G 13611 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13611_A/G homo ENSG00000198786 synonymous_variant cgA/cgG - LOW SNV MT-ND5 protein_coding - - - 5645 m.13614A>G 13614 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13614_A/G homo ENSG00000198786 synonymous_variant atA/atG - LOW SNV MT-ND5 protein_coding - - - 5646 m.13615A>G 13615 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_13615_A/G homo ENSG00000198786 missense_variant Att/Gtt - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.18) benign(0.011) - 5647 m.13617T>C 13617 T C 110 0.015139004 0 0.000000000 7266 0.015139004 MT_13617_T/C homo ENSG00000198786 synonymous_variant atT/atC rs2853503 LOW SNV MT-ND5 protein_coding - - - 5648 m.13620T>C 13620 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_13620_T/C homo ENSG00000198786 synonymous_variant ctT/ctC - LOW SNV MT-ND5 protein_coding - - - 5649 m.13623C>T 13623 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_13623_C/T homo ENSG00000198786 synonymous_variant ctC/ctT - LOW SNV MT-ND5 protein_coding - - - 5650 m.13624A>C 13624 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13624_A/C heter ENSG00000198786 missense_variant Acc/Ccc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.998) - 5651 m.13626C>T 13626 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13626_C/T homo ENSG00000198786 synonymous_variant acC/acT rs376146541 LOW SNV MT-ND5 protein_coding - - - 5652 m.13627C>T 13627 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13627_C/T homo ENSG00000198786 synonymous_variant Cta/Tta rs879159696 LOW SNV MT-ND5 protein_coding - - - 5653 m.13629A>G 13629 A G 26 0.003578310 0 0.000000000 7266 0.003578310 MT_13629_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5654 m.13630A>G 13630 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_13630_A/G homo ENSG00000198786 missense_variant Aca/Gca rs1556424302 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) benign(0.317) - 5655 m.13632A>C 13632 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13632_A/C homo ENSG00000198786 synonymous_variant acA/acC - LOW SNV MT-ND5 protein_coding - - - 5656 m.13632A>G 13632 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13632_A/G homo ENSG00000198786 synonymous_variant acA/acG - LOW SNV MT-ND5 protein_coding - - - 5657 m.13634G>A 13634 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13634_G/A heter ENSG00000198786 missense_variant gGt/gAt - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.02) possibly_damaging(0.593) - 5658 m.13635T>C 13635 T C 28 0.003853565 1 0.000137627 7266 0.003991192 MT_13635_T/C homo&heter ENSG00000198786 synonymous_variant ggT/ggC rs878853075 LOW SNV MT-ND5 protein_coding - - likely_benign 5659 m.13635T>G 13635 T G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13635_T/G homo ENSG00000198786 synonymous_variant ggT/ggG - LOW SNV MT-ND5 protein_coding - - - 5660 m.13637A>G 13637 A G 21 0.002890173 0 0.000000000 7266 0.002890173 MT_13637_A/G homo ENSG00000198786 missense_variant cAa/cGa rs200855215 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.04) benign(0.015) pathogenic,benign 5661 m.13638A>G 13638 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_13638_A/G homo ENSG00000198786 synonymous_variant caA/caG - LOW SNV MT-ND5 protein_coding - - - 5662 m.13641T>C 13641 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_13641_T/C homo&heter ENSG00000198786 synonymous_variant ccT/ccC - LOW SNV MT-ND5 protein_coding - - - 5663 m.13646T>A 13646 T A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13646_T/A homo ENSG00000198786 missense_variant tTc/tAc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.09) possibly_damaging(0.596) - 5664 m.13650C>G 13650 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13650_C/G homo ENSG00000198786 synonymous_variant ccC/ccG COSV62378070 LOW SNV MT-ND5 protein_coding - - - 5665 m.13650C>T 13650 C T 575 0.079135701 1 0.000137627 7266 0.079273328 MT_13650_C/T homo&heter ENSG00000198786 synonymous_variant ccC/ccT rs2854123,COSV62378070 LOW SNV MT-ND5 protein_coding - - - 5666 m.13651A>G 13651 A G 41 0.005642720 1 0.000137627 7266 0.005780347 MT_13651_A/G homo&heter ENSG00000198786 missense_variant Acc/Gcc rs1569484594 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.17) probably_damaging(0.994) - 5667 m.13653C>T 13653 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_13653_C/T homo ENSG00000198786 synonymous_variant acC/acT rs878899783 LOW SNV MT-ND5 protein_coding - - - 5668 m.13656T>C 13656 T C 32 0.004404074 1 0.000137627 7266 0.004541701 MT_13656_T/C homo&heter ENSG00000198786 synonymous_variant ctT/ctC - LOW SNV MT-ND5 protein_coding - - - 5669 m.13658C>T 13658 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13658_C/T homo ENSG00000198786 missense_variant aCt/aTt - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.65) benign(0.015) - 5670 m.13659T>C 13659 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_13659_T/C homo&heter ENSG00000198786 synonymous_variant acT/acC - LOW SNV MT-ND5 protein_coding - - - 5671 m.13661A>G 13661 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13661_A/G homo ENSG00000198786 missense_variant aAc/aGc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.38) benign(0.056) - 5672 m.13662C>T 13662 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_13662_C/T homo ENSG00000198786 synonymous_variant aaC/aaT - LOW SNV MT-ND5 protein_coding - - - 5673 m.13665T>C 13665 T C 4 0.000550509 1 0.000137627 7266 0.000688137 MT_13665_T/C homo&heter ENSG00000198786 synonymous_variant atT/atC rs1569484596 LOW SNV MT-ND5 protein_coding - - - 5674 m.13674T>C 13674 T C 4 0.000550509 1 0.000137627 7266 0.000688137 MT_13674_T/C homo&heter ENSG00000198786 synonymous_variant aaT/aaC - LOW SNV MT-ND5 protein_coding - - - 5675 m.13676A>G 13676 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_13676_A/G homo&heter ENSG00000198786 missense_variant aAc/aGc COSV62378489 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.04) benign(0.265) - 5676 m.13677C>T 13677 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13677_C/T homo ENSG00000198786 synonymous_variant aaC/aaT - LOW SNV MT-ND5 protein_coding - - - 5677 m.13680C>T 13680 C T 16 0.002202037 0 0.000000000 7266 0.002202037 MT_13680_C/T homo ENSG00000198786 synonymous_variant ccC/ccT rs1556424304,COSV62377776 LOW SNV MT-ND5 protein_coding - - - 5678 m.13681A>G 13681 A G 47 0.006468483 3 0.000412882 7266 0.006881365 MT_13681_A/G homo&heter ENSG00000198786 missense_variant Acc/Gcc rs386829187 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.65) benign(0.011) - 5679 m.13683C>T 13683 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13683_C/T homo ENSG00000198786 synonymous_variant acC/acT - LOW SNV MT-ND5 protein_coding - - - 5680 m.13685T>C 13685 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13685_T/C heter ENSG00000198786 missense_variant cTa/cCa - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 5681 m.13687C>T 13687 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13687_C/T homo ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5682 m.13692C>T 13692 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13692_C/T homo ENSG00000198786 synonymous_variant aaC/aaT - LOW SNV MT-ND5 protein_coding - - - 5683 m.13698T>C 13698 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13698_T/C homo ENSG00000198786 synonymous_variant atT/atC - LOW SNV MT-ND5 protein_coding - - - 5684 m.13701A>G 13701 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13701_A/G homo ENSG00000198786 synonymous_variant aaA/aaG COSV62378300 LOW SNV MT-ND5 protein_coding - - - 5685 m.13707G>A 13707 G A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_13707_G/A homo ENSG00000198786 synonymous_variant ctG/ctA - LOW SNV MT-ND5 protein_coding - - - 5686 m.13708G>A 13708 G A 353 0.048582439 3 0.000412882 7266 0.048995321 MT_13708_G/A homo&heter ENSG00000198786 missense_variant Gca/Aca rs28359178 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.19) benign(0) conflicting_interpretations_of_pathogenicity,benign 5687 m.13710A>G 13710 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_13710_A/G homo ENSG00000198786 synonymous_variant gcA/gcG rs200295632,COSV62377873 LOW SNV MT-ND5 protein_coding - - - 5688 m.13711G>A 13711 G A 14 0.001926782 0 0.000000000 7266 0.001926782 MT_13711_G/A homo ENSG00000198786 missense_variant Gcc/Acc rs879489195,COSV62378269 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.12) benign(0.005) - 5689 m.13712C>T 13712 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13712_C/T homo ENSG00000198786 missense_variant gCc/gTc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.3) benign(0.003) - 5690 m.13713C>T 13713 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13713_C/T homo ENSG00000198786 synonymous_variant gcC/gcT - LOW SNV MT-ND5 protein_coding - - - 5691 m.13716A>G 13716 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13716_A/G homo ENSG00000198786 synonymous_variant ggA/ggG - LOW SNV MT-ND5 protein_coding - - - 5692 m.13718G>C 13718 G C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_13718_G/C homo&heter ENSG00000198786 missense_variant aGc/aCc rs1556424311 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.99) - 5693 m.13720C>T 13720 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_13720_C/T homo ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5694 m.13722A>C 13722 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13722_A/C homo ENSG00000198786 synonymous_variant ctA/ctC - LOW SNV MT-ND5 protein_coding - - - 5695 m.13722A>G 13722 A G 44 0.006055601 3 0.000412882 7266 0.006468483 MT_13722_A/G homo&heter ENSG00000198786 synonymous_variant ctA/ctG rs386829190 LOW SNV MT-ND5 protein_coding - - benign 5696 m.13725C>T 13725 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13725_C/T homo ENSG00000198786 synonymous_variant ttC/ttT - LOW SNV MT-ND5 protein_coding - - - 5697 m.13730G>A 13730 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13730_G/A heter ENSG00000198786 missense_variant gGa/gAa rs387906425 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(1) pathogenic 5698 m.13731A>G 13731 A G 22 0.003027801 2 0.000275255 7266 0.003303055 MT_13731_A/G homo&heter ENSG00000198786 synonymous_variant ggA/ggG rs1556424319 LOW SNV MT-ND5 protein_coding - - - 5699 m.13732T>C 13732 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13732_T/C heter ENSG00000198786 missense_variant Ttt/Ctt - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.31) probably_damaging(0.99) - 5700 m.13734T>C 13734 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_13734_T/C homo ENSG00000198786 synonymous_variant ttT/ttC rs41421644 LOW SNV MT-ND5 protein_coding - - - 5701 m.13740T>C 13740 T C 10 0.001376273 1 0.000137627 7266 0.001513900 MT_13740_T/C homo&heter ENSG00000198786 synonymous_variant atT/atC rs28630861 LOW SNV MT-ND5 protein_coding - - - 5702 m.13743T>C 13743 T C 7 0.000963391 1 0.000137627 7266 0.001101018 MT_13743_T/C homo&heter ENSG00000198786 synonymous_variant acT/acC rs1556424321 LOW SNV MT-ND5 protein_coding - - - 5703 m.13745A>G 13745 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13745_A/G homo ENSG00000198786 missense_variant aAc/aGc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.64) benign(0.056) - 5704 m.13748A>G 13748 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_13748_A/G homo ENSG00000198786 missense_variant aAc/aGc rs879029751 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.14) benign(0.056) - 5705 m.13749C>T 13749 C T 18 0.002477291 0 0.000000000 7266 0.002477291 MT_13749_C/T homo ENSG00000198786 synonymous_variant aaC/aaT rs1569484601 LOW SNV MT-ND5 protein_coding - - - 5706 m.13752T>C 13752 T C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_13752_T/C homo ENSG00000198786 synonymous_variant atT/atC rs375571402 LOW SNV MT-ND5 protein_coding - - - 5707 m.13753T>C 13753 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_13753_T/C homo ENSG00000198786 missense_variant Tcc/Ccc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0.003) - 5708 m.13754C>A 13754 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13754_C/A homo ENSG00000198786 missense_variant tCc/tAc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.21) possibly_damaging(0.577) - 5709 m.13755C>T 13755 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13755_C/T homo ENSG00000198786 synonymous_variant tcC/tcT rs368357802 LOW SNV MT-ND5 protein_coding - - - 5710 m.13759G>A 13759 G A 411 0.056564822 2 0.000275255 7266 0.056840077 MT_13759_G/A homo&heter ENSG00000198786 missense_variant Gca/Aca rs386420024 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0) - 5711 m.13760C>T 13760 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13760_C/T homo ENSG00000198786 missense_variant gCa/gTa - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.07) benign(0.006) - 5712 m.13763C>T 13763 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13763_C/T homo ENSG00000198786 missense_variant tCc/tTc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.04) benign(0.024) - 5713 m.13766C>A 13766 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13766_C/A homo ENSG00000198786 missense_variant cCc/cAc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.22) possibly_damaging(0.652) - 5714 m.13767C>T 13767 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_13767_C/T homo ENSG00000198786 synonymous_variant ccC/ccT - LOW SNV MT-ND5 protein_coding - - - 5715 m.13768T>A 13768 T A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_13768_T/A homo ENSG00000198786 missense_variant Ttc/Atc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.13) benign(0.003) - 5716 m.13768T>C 13768 T C 21 0.002890173 0 0.000000000 7266 0.002890173 MT_13768_T/C homo ENSG00000198786 missense_variant Ttc/Ctc rs1556424325 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.05) benign(0) - 5717 m.13769T>C 13769 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13769_T/C homo ENSG00000198786 missense_variant tTc/tCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.03) benign(0) - 5718 m.13773A>G 13773 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13773_A/G homo ENSG00000198786 synonymous_variant caA/caG - LOW SNV MT-ND5 protein_coding - - - 5719 m.13774A>G 13774 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13774_A/G homo ENSG00000198786 missense_variant Aca/Gca - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) benign(0.18) - 5720 m.13779A>G 13779 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_13779_A/G homo ENSG00000198786 synonymous_variant acA/acG - LOW SNV MT-ND5 protein_coding - - - 5721 m.13780A>G 13780 A G 12 0.001651528 0 0.000000000 7266 0.001651528 MT_13780_A/G homo ENSG00000198786 missense_variant Atc/Gtc rs41358152 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) benign(0.003) - 5722 m.13781T>C 13781 T C 4 0.000550509 2 0.000275255 7266 0.000825764 MT_13781_T/C homo&heter ENSG00000198786 missense_variant aTc/aCc rs386829193 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.02) benign(0.017) - 5723 m.13782C>T 13782 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13782_C/T homo ENSG00000198786 synonymous_variant atC/atT rs368889908 LOW SNV MT-ND5 protein_coding - - - 5724 m.13788C>A 13788 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13788_C/A homo ENSG00000198786 synonymous_variant ctC/ctA - LOW SNV MT-ND5 protein_coding - - - 5725 m.13788C>T 13788 C T 14 0.001926782 0 0.000000000 7266 0.001926782 MT_13788_C/T homo ENSG00000198786 synonymous_variant ctC/ctT - LOW SNV MT-ND5 protein_coding - - - 5726 m.13789T>C 13789 T C 168 0.023121387 0 0.000000000 7266 0.023121387 MT_13789_T/C homo ENSG00000198786 missense_variant Tac/Cac rs28359179 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.27) probably_damaging(0.998) - 5727 m.13790A>G 13790 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_13790_A/G homo&heter ENSG00000198786 missense_variant tAc/tGc rs1556424326 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) probably_damaging(0.999) - 5728 m.13799T>C 13799 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13799_T/C heter ENSG00000198786 missense_variant cTc/cCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 5729 m.13800C>A 13800 C A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13800_C/A homo ENSG00000198786 synonymous_variant ctC/ctA - LOW SNV MT-ND5 protein_coding - - - 5730 m.13800C>T 13800 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13800_C/T homo ENSG00000198786 synonymous_variant ctC/ctT - LOW SNV MT-ND5 protein_coding - - - 5731 m.13801A>G 13801 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13801_A/G homo ENSG00000198786 missense_variant Aca/Gca - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.48) benign(0.033) - 5732 m.13802C>T 13802 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13802_C/T homo ENSG00000198786 missense_variant aCa/aTa rs1556424329 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.22) probably_damaging(0.955) - 5733 m.13803A>G 13803 A G 201 0.027663088 0 0.000000000 7266 0.027663088 MT_13803_A/G homo ENSG00000198786 synonymous_variant acA/acG rs28359180 LOW SNV MT-ND5 protein_coding - - - 5734 m.13804G>A 13804 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13804_G/A homo ENSG00000198786 missense_variant Gcc/Acc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.03) probably_damaging(0.998) - 5735 m.13806C>T 13806 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13806_C/T heter ENSG00000198786 synonymous_variant gcC/gcT - LOW SNV MT-ND5 protein_coding - - - 5736 m.13808T>C 13808 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13808_T/C heter ENSG00000198786 missense_variant cTc/cCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 5737 m.13810G>A 13810 G A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13810_G/A homo ENSG00000198786 missense_variant Gct/Act - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.61) benign(0.017) - 5738 m.13812T>C 13812 T C 8 0.001101018 1 0.000137627 7266 0.001238646 MT_13812_T/C homo&heter ENSG00000198786 synonymous_variant gcT/gcC rs1556424331 LOW SNV MT-ND5 protein_coding - - - 5739 m.13812T>G 13812 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13812_T/G homo ENSG00000198786 synonymous_variant gcT/gcG - LOW SNV MT-ND5 protein_coding - - - 5740 m.13813G>A 13813 G A 2 0.000275255 1 0.000137627 7266 0.000412882 MT_13813_G/A homo&heter ENSG00000198786 missense_variant Gtc/Atc rs1556424332 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.32) benign(0.003) - 5741 m.13814T>C 13814 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13814_T/C homo ENSG00000198786 missense_variant gTc/gCc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.1) benign(0.003) - 5742 m.13815C>T 13815 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13815_C/T homo ENSG00000198786 synonymous_variant gtC/gtT - LOW SNV MT-ND5 protein_coding - - - 5743 m.13816A>T 13816 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13816_A/T heter ENSG00000198786 missense_variant Act/Tct - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.04) probably_damaging(0.994) - 5744 m.13818T>C 13818 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_13818_T/C homo ENSG00000198786 synonymous_variant acT/acC - LOW SNV MT-ND5 protein_coding - - - 5745 m.13820T>C 13820 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_13820_T/C homo ENSG00000198786 missense_variant tTc/tCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) benign(0.003) - 5746 m.13821C>T 13821 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_13821_C/T homo ENSG00000198786 synonymous_variant ttC/ttT rs879008690 LOW SNV MT-ND5 protein_coding - - - 5747 m.13824A>G 13824 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13824_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5748 m.13825G>A 13825 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13825_G/A heter ENSG00000198786 stop_gained Gga/Aga - HIGH SNV MT-ND5 protein_coding - - - 5749 m.13827A>G 13827 A G 33 0.004541701 2 0.000275255 7266 0.004816956 MT_13827_A/G homo&heter ENSG00000198786 synonymous_variant ggA/ggG rs1556424334 LOW SNV MT-ND5 protein_coding - - - 5750 m.13828C>T 13828 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13828_C/T heter ENSG00000198786 missense_variant Ctt/Ttt - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0.041) - 5751 m.13830T>C 13830 T C 16 0.002202037 2 0.000275255 7266 0.002477291 MT_13830_T/C homo&heter ENSG00000198786 synonymous_variant ctT/ctC rs386829194 LOW SNV MT-ND5 protein_coding - - - 5752 m.13831C>T 13831 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13831_C/T homo ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5753 m.13833A>G 13833 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13833_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5754 m.13834A>G 13834 A G 17 0.002339664 0 0.000000000 7266 0.002339664 MT_13834_A/G homo ENSG00000198786 missense_variant Aca/Gca rs1556424337 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.08) benign(0.024) - 5755 m.13836A>T 13836 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13836_A/T homo ENSG00000198786 synonymous_variant acA/acT - LOW SNV MT-ND5 protein_coding - - - 5756 m.13839C>T 13839 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_13839_C/T homo&heter ENSG00000198786 synonymous_variant gcC/gcT - LOW SNV MT-ND5 protein_coding - - - 5757 m.13842A>G 13842 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13842_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5758 m.13848C>T 13848 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13848_C/T homo ENSG00000198786 synonymous_variant ctC/ctT - LOW SNV MT-ND5 protein_coding - - - 5759 m.13849A>T 13849 A T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13849_A/T homo ENSG00000198786 missense_variant Aac/Tac - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.1) benign(0.015) - 5760 m.13850A>G 13850 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13850_A/G heter ENSG00000198786 missense_variant aAc/aGc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.26) benign(0.338) - 5761 m.13857A>G 13857 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_13857_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5762 m.13858A>G 13858 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13858_A/G homo ENSG00000198786 missense_variant Acc/Gcc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.06) benign(0.007) - 5763 m.13859C>T 13859 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13859_C/T heter ENSG00000198786 missense_variant aCc/aTc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) possibly_damaging(0.502) - 5764 m.13860C>T 13860 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13860_C/T homo ENSG00000198786 synonymous_variant acC/acT - LOW SNV MT-ND5 protein_coding - - - 5765 m.13862A>G 13862 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_13862_A/G homo&heter ENSG00000198786 missense_variant aAc/aGc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.34) benign(0.035) - 5766 m.13866A>G 13866 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13866_A/G homo ENSG00000198786 synonymous_variant aaA/aaG - LOW SNV MT-ND5 protein_coding - - - 5767 m.13874T>C 13874 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13874_T/C homo ENSG00000198786 missense_variant aTa/aCa - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.57) benign(0.005) - 5768 m.13879T>A 13879 T A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13879_T/A homo ENSG00000198786 missense_variant Tcc/Acc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.59) benign(0.001) - 5769 m.13879T>C 13879 T C 32 0.004404074 4 0.000550509 7266 0.004954583 MT_13879_T/C homo&heter ENSG00000198786 missense_variant Tcc/Ccc rs879087566 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.51) benign(0.001) - 5770 m.13879T>G 13879 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13879_T/G homo ENSG00000198786 missense_variant Tcc/Gcc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.41) benign(0.036) - 5771 m.13880C>A 13880 C A 101 0.013900358 0 0.000000000 7266 0.013900358 MT_13880_C/A homo ENSG00000198786 missense_variant tCc/tAc rs28359181 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0.12) - 5772 m.13880C>T 13880 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13880_C/T heter ENSG00000198786 missense_variant tCc/tTc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.55) benign(0.379) - 5773 m.13884A>G 13884 A G 11 0.001513900 2 0.000275255 7266 0.001789155 MT_13884_A/G homo&heter ENSG00000198786 synonymous_variant ccA/ccG rs1556424342 LOW SNV MT-ND5 protein_coding - - - 5774 m.13886T>A 13886 T A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13886_T/A homo ENSG00000198786 missense_variant cTa/cAa - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.27) benign(0.3) - 5775 m.13886T>C 13886 T C 60 0.008257638 0 0.000000000 7266 0.008257638 MT_13886_T/C homo ENSG00000198786 missense_variant cTa/cCa rs28359182 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.2) benign(0.003) - 5776 m.13887A>G 13887 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13887_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5777 m.13888T>C 13888 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13888_T/C homo ENSG00000198786 missense_variant Tgc/Cgc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.35) benign(0) - 5778 m.13889G>A 13889 G A 7 0.000963391 3 0.000412882 7266 0.001376273 MT_13889_G/A homo&heter ENSG00000198786 missense_variant tGc/tAc rs1556424343 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0) - 5779 m.13890C>T 13890 C T 15 0.002064410 0 0.000000000 7266 0.002064410 MT_13890_C/T homo ENSG00000198786 synonymous_variant tgC/tgT - LOW SNV MT-ND5 protein_coding - - - 5780 m.13893A>G 13893 A G 13 0.001789155 0 0.000000000 7266 0.001789155 MT_13893_A/G homo ENSG00000198786 synonymous_variant acA/acG - LOW SNV MT-ND5 protein_coding - - - 5781 m.13893ATTT>A 13893 ATTT A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13894_TTT/- heter ENSG00000198786 inframe_deletion TTT/- - MODERATE deletion MT-ND5 protein_coding - - - 5782 m.13895T>C 13895 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13895_T/C heter ENSG00000198786 missense_variant tTt/tCt - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.31) probably_damaging(0.995) - 5783 m.13896T>C 13896 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_13896_T/C homo ENSG00000198786 synonymous_variant ttT/ttC COSV62378245 LOW SNV MT-ND5 protein_coding - - - 5784 m.13899T>C 13899 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13899_T/C homo ENSG00000198786 synonymous_variant taT/taC rs370031192 LOW SNV MT-ND5 protein_coding - - - 5785 m.13903T>C 13903 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13903_T/C heter ENSG00000198786 missense_variant Tcc/Ccc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 5786 m.13905C>T 13905 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13905_C/T homo ENSG00000198786 synonymous_variant tcC/tcT - LOW SNV MT-ND5 protein_coding - - - 5787 m.13908C>T 13908 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13908_C/T homo ENSG00000198786 synonymous_variant aaC/aaT - LOW SNV MT-ND5 protein_coding - - - 5788 m.13911A>G 13911 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_13911_A/G homo ENSG00000198786 synonymous_variant atA/atG - LOW SNV MT-ND5 protein_coding - - - 5789 m.13914C>A 13914 C A 96 0.013212221 0 0.000000000 7266 0.013212221 MT_13914_C/A homo ENSG00000198786 synonymous_variant ctC/ctA rs1556424345 LOW SNV MT-ND5 protein_coding - - - 5790 m.13914C>T 13914 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13914_C/T homo ENSG00000198786 synonymous_variant ctC/ctT - LOW SNV MT-ND5 protein_coding - - - 5791 m.13915G>A 13915 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_13915_G/A heter ENSG00000198786 stop_gained Gga/Aga - HIGH SNV MT-ND5 protein_coding - - - 5792 m.13916G>A 13916 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13916_G/A heter ENSG00000198786 missense_variant gGa/gAa - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 5793 m.13917A>G 13917 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13917_A/G heter ENSG00000198786 synonymous_variant ggA/ggG - LOW SNV MT-ND5 protein_coding - - - 5794 m.13918T>C 13918 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_13918_T/C heter ENSG00000198786 missense_variant Ttc/Ctc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(0.99) - 5795 m.13919T>A 13919 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13919_T/A homo ENSG00000198786 missense_variant tTc/tAc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) probably_damaging(0.99) - 5796 m.13923C>T 13923 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13923_C/T homo ENSG00000198786 synonymous_variant taC/taT rs367969815 LOW SNV MT-ND5 protein_coding - - - 5797 m.13924C>T 13924 C T 22 0.003027801 0 0.000000000 7266 0.003027801 MT_13924_C/T homo ENSG00000198786 missense_variant Cct/Tct rs200713907 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.08) probably_damaging(0.998) - 5798 m.13926T>C 13926 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_13926_T/C homo ENSG00000198786 synonymous_variant ccT/ccC rs878853047,COSV62378320 LOW SNV MT-ND5 protein_coding - - uncertain_significance 5799 m.13927A>T 13927 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13927_A/T homo ENSG00000198786 missense_variant Agc/Tgc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.03) possibly_damaging(0.861) - 5800 m.13928G>A 13928 G A 7 0.000963391 3 0.000412882 7266 0.001376273 MT_13928_G/A homo&heter ENSG00000198786 missense_variant aGc/aAc rs28359184 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.11) benign(0.003) - 5801 m.13928G>C 13928 G C 900 0.123864575 0 0.000000000 7266 0.123864575 MT_13928_G/C homo ENSG00000198786 missense_variant aGc/aCc rs28359184 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0.18) - 5802 m.13931T>C 13931 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13931_T/C heter ENSG00000198786 missense_variant aTc/aCc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.44) benign(0.015) - 5803 m.13932C>T 13932 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13932_C/T homo ENSG00000198786 synonymous_variant atC/atT rs1556424353 LOW SNV MT-ND5 protein_coding - - - 5804 m.13933A>G 13933 A G 12 0.001651528 0 0.000000000 7266 0.001651528 MT_13933_A/G homo ENSG00000198786 missense_variant Aca/Gca rs879235634 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.06) benign(0.056) - 5805 m.13934C>T 13934 C T 34 0.004679328 0 0.000000000 7266 0.004679328 MT_13934_C/T homo ENSG00000198786 missense_variant aCa/aTa rs193302971 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.9) benign(0.02) - 5806 m.13935A>G 13935 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_13935_A/G homo&heter ENSG00000198786 synonymous_variant acA/acG - LOW SNV MT-ND5 protein_coding - - - 5807 m.13938C>T 13938 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13938_C/T homo ENSG00000198786 synonymous_variant caC/caT rs879210991 LOW SNV MT-ND5 protein_coding - - - 5808 m.13942A>G 13942 A G 50 0.006881365 0 0.000000000 7266 0.006881365 MT_13942_A/G homo ENSG00000198786 missense_variant Aca/Gca rs200657506 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.05) benign(0.074) - 5809 m.13943C>T 13943 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_13943_C/T homo ENSG00000198786 missense_variant aCa/aTa rs1556424357 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.23) benign(0.05) - 5810 m.13946T>C 13946 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13946_T/C heter ENSG00000198786 missense_variant aTc/aCc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.48) possibly_damaging(0.456) - 5811 m.13947C>T 13947 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13947_C/T homo ENSG00000198786 synonymous_variant atC/atT - LOW SNV MT-ND5 protein_coding - - - 5812 m.13948C>T 13948 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13948_C/T homo ENSG00000198786 missense_variant Ccc/Tcc rs878869470 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.998) - 5813 m.13952A>G 13952 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13952_A/G heter ENSG00000198786 missense_variant tAt/tGt - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.17) probably_damaging(0.955) - 5814 m.13953T>C 13953 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13953_T/C homo ENSG00000198786 synonymous_variant taT/taC - LOW SNV MT-ND5 protein_coding - - - 5815 m.13954C>T 13954 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_13954_C/T homo ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5816 m.13957G>A 13957 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13957_G/A homo ENSG00000198786 missense_variant Ggc/Agc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.35) benign(0.026) - 5817 m.13958G>A 13958 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13958_G/A heter ENSG00000198786 missense_variant gGc/gAc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.03) possibly_damaging(0.537) - 5818 m.13958G>C 13958 G C 69 0.009496284 0 0.000000000 7266 0.009496284 MT_13958_G/C homo ENSG00000198786 missense_variant gGc/gCc rs202081448 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.02) benign(0.318) - 5819 m.13959C>T 13959 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13959_C/T homo ENSG00000198786 synonymous_variant ggC/ggT - LOW SNV MT-ND5 protein_coding - - - 5820 m.13962T>C 13962 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13962_T/C homo ENSG00000198786 synonymous_variant ctT/ctC - LOW SNV MT-ND5 protein_coding - - - 5821 m.13965T>C 13965 T C 11 0.001513900 0 0.000000000 7266 0.001513900 MT_13965_T/C homo ENSG00000198786 synonymous_variant ctT/ctC rs869156190 LOW SNV MT-ND5 protein_coding - - - 5822 m.13966A>G 13966 A G 65 0.008945775 0 0.000000000 7266 0.008945775 MT_13966_A/G homo ENSG00000198786 missense_variant Acg/Gcg rs41535848 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.14) benign(0.005) - 5823 m.13967C>T 13967 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_13967_C/T homo ENSG00000198786 missense_variant aCg/aTg rs386829197 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0.015) - 5824 m.13968G>A 13968 G A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_13968_G/A homo ENSG00000198786 synonymous_variant acG/acA - LOW SNV MT-ND5 protein_coding - - - 5825 m.13970G>A 13970 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13970_G/A heter ENSG00000198786 missense_variant aGc/aAc COSV62377937 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.05) probably_damaging(0.99) - 5826 m.13973A>T 13973 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13973_A/T homo ENSG00000198786 missense_variant cAa/cTa - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.986) - 5827 m.13975A>G 13975 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13975_A/G heter ENSG00000198786 missense_variant Aac/Gac - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.02) probably_damaging(0.994) - 5828 m.13975A>T 13975 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13975_A/T homo ENSG00000198786 missense_variant Aac/Tac - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.07) probably_damaging(0.999) - 5829 m.13976A>G 13976 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13976_A/G heter ENSG00000198786 missense_variant aAc/aGc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.24) probably_damaging(0.994) - 5830 m.13980G>A 13980 G A 40 0.005505092 0 0.000000000 7266 0.005505092 MT_13980_G/A homo ENSG00000198786 synonymous_variant ctG/ctA rs1569484618 LOW SNV MT-ND5 protein_coding - - - 5831 m.13980G>C 13980 G C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_13980_G/C homo&heter ENSG00000198786 synonymous_variant ctG/ctC - LOW SNV MT-ND5 protein_coding - - - 5832 m.13981C>T 13981 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_13981_C/T homo ENSG00000198786 missense_variant Ccc/Tcc rs201144988 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.14) benign(0.012) - 5833 m.13983C>T 13983 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13983_C/T homo ENSG00000198786 synonymous_variant ccC/ccT - LOW SNV MT-ND5 protein_coding - - - 5834 m.13984C>T 13984 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_13984_C/T homo ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5835 m.13986A>G 13986 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13986_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5836 m.13988T>A 13988 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_13988_T/A homo ENSG00000198786 missense_variant cTc/cAc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.47) probably_damaging(0.999) - 5837 m.13992C>A 13992 C A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_13992_C/A heter ENSG00000198786 synonymous_variant ctC/ctA - LOW SNV MT-ND5 protein_coding - - - 5838 m.13992C>T 13992 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_13992_C/T homo ENSG00000198786 synonymous_variant ctC/ctT - LOW SNV MT-ND5 protein_coding - - - 5839 m.13995A>G 13995 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_13995_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5840 m.13998C>T 13998 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13998_C/T homo ENSG00000198786 synonymous_variant gaC/gaT - LOW SNV MT-ND5 protein_coding - - - 5841 m.13999C>T 13999 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_13999_C/T homo ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5842 m.14000T>A 14000 T A 65 0.008945775 0 0.000000000 7266 0.008945775 MT_14000_T/A homo ENSG00000198786 missense_variant cTa/cAa rs28359185 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.37) probably_damaging(0.999) benign,likely_benign 5843 m.14001A>G 14001 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14001_A/G homo ENSG00000198786 synonymous_variant ctA/ctG - LOW SNV MT-ND5 protein_coding - - - 5844 m.14001A>T 14001 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14001_A/T heter ENSG00000198786 synonymous_variant ctA/ctT - LOW SNV MT-ND5 protein_coding - - - 5845 m.14002A>G 14002 A G 7 0.000963391 1 0.000137627 7266 0.001101018 MT_14002_A/G homo&heter ENSG00000198786 missense_variant Acc/Gcc rs386829198 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.16) benign(0.003) benign,likely_benign 5846 m.14003C>T 14003 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14003_C/T homo ENSG00000198786 missense_variant aCc/aTc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.63) benign(0.01) - 5847 m.14004C>T 14004 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14004_C/T homo ENSG00000198786 synonymous_variant acC/acT - LOW SNV MT-ND5 protein_coding - - - 5848 m.14007A>G 14007 A G 12 0.001651528 0 0.000000000 7266 0.001651528 MT_14007_A/G homo ENSG00000198786 synonymous_variant tgA/tgG - LOW SNV MT-ND5 protein_coding - - - 5849 m.14013A>G 14013 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14013_A/G homo ENSG00000198786 synonymous_variant gaA/gaG - LOW SNV MT-ND5 protein_coding - - - 5850 m.14016G>A 14016 G A 31 0.004266446 1 0.000137627 7266 0.004404074 MT_14016_G/A homo&heter ENSG00000198786 synonymous_variant aaG/aaA rs1556424367 LOW SNV MT-ND5 protein_coding - - - 5851 m.14017C>T 14017 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14017_C/T homo ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5852 m.14020T>C 14020 T C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_14020_T/C homo ENSG00000198786 synonymous_variant Tta/Cta rs1556424369 LOW SNV MT-ND5 protein_coding - - - 5853 m.14022A>G 14022 A G 4 0.000550509 1 0.000137627 7266 0.000688137 MT_14022_A/G homo&heter ENSG00000198786 synonymous_variant ttA/ttG rs878853101 LOW SNV MT-ND5 protein_coding - - likely_benign 5854 m.14025T>C 14025 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_14025_T/C homo ENSG00000198786 synonymous_variant ccT/ccC rs879073899 LOW SNV MT-ND5 protein_coding - - - 5855 m.14028A>G 14028 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14028_A/G homo ENSG00000198786 synonymous_variant aaA/aaG - LOW SNV MT-ND5 protein_coding - - - 5856 m.14029A>G 14029 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14029_A/G homo ENSG00000198786 missense_variant Aca/Gca - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.33) benign(0.033) - 5857 m.14030C>T 14030 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14030_C/T homo ENSG00000198786 missense_variant aCa/aTa - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.32) probably_damaging(0.955) - 5858 m.14032A>G 14032 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14032_A/G heter ENSG00000198786 missense_variant Att/Gtt - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.21) probably_damaging(0.943) - 5859 m.14033T>C 14033 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14033_T/C heter ENSG00000198786 missense_variant aTt/aCt COSV62378021 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.37) probably_damaging(0.99) - 5860 m.14034T>C 14034 T C 11 0.001513900 0 0.000000000 7266 0.001513900 MT_14034_T/C homo ENSG00000198786 synonymous_variant atT/atC rs60673542,COSV62378103 LOW SNV MT-ND5 protein_coding - - - 5861 m.14037A>G 14037 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14037_A/G homo ENSG00000198786 synonymous_variant tcA/tcG rs879181324 LOW SNV MT-ND5 protein_coding - - - 5862 m.14040G>A 14040 G A 39 0.005367465 3 0.000412882 7266 0.005780347 MT_14040_G/A homo&heter ENSG00000198786 synonymous_variant caG/caA rs57180882 LOW SNV MT-ND5 protein_coding - - likely_benign 5863 m.14041C>T 14041 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14041_C/T homo ENSG00000198786 missense_variant Cac/Tac - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0.003) - 5864 m.14046A>G 14046 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14046_A/G homo ENSG00000198786 synonymous_variant caA/caG - LOW SNV MT-ND5 protein_coding - - - 5865 m.14047A>G 14047 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14047_A/G homo ENSG00000198786 missense_variant Atc/Gtc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.38) benign(0.003) - 5866 m.14049C>T 14049 C T 5 0.000688137 1 0.000137627 7266 0.000825764 MT_14049_C/T homo&heter ENSG00000198786 synonymous_variant atC/atT rs3900944 LOW SNV MT-ND5 protein_coding - - - 5867 m.14050T>C 14050 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14050_T/C heter ENSG00000198786 missense_variant Tcc/Ccc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.33) probably_damaging(0.995) - 5868 m.14052C>T 14052 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14052_C/T homo ENSG00000198786 synonymous_variant tcC/tcT - LOW SNV MT-ND5 protein_coding - - - 5869 m.14053A>G 14053 A G 47 0.006468483 0 0.000000000 7266 0.006468483 MT_14053_A/G homo ENSG00000198786 missense_variant Acc/Gcc rs200134839 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0) - 5870 m.14055C>T 14055 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14055_C/T homo ENSG00000198786 synonymous_variant acC/acT - LOW SNV MT-ND5 protein_coding - - - 5871 m.14058C>T 14058 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_14058_C/T homo ENSG00000198786 synonymous_variant tcC/tcT rs201017328 LOW SNV MT-ND5 protein_coding - - - 5872 m.14059A>G 14059 A G 39 0.005367465 0 0.000000000 7266 0.005367465 MT_14059_A/G homo ENSG00000198786 missense_variant Atc/Gtc rs878865648 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.16) benign(0.007) - 5873 m.14060T>C 14060 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_14060_T/C homo&heter ENSG00000198786 missense_variant aTc/aCc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0.027) - 5874 m.14063T>C 14063 T C 9 0.001238646 2 0.000275255 7266 0.001513900 MT_14063_T/C homo&heter ENSG00000198786 missense_variant aTc/aCc rs1556424379 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.88) benign(0.001) - 5875 m.14064C>T 14064 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14064_C/T homo ENSG00000198786 synonymous_variant atC/atT - LOW SNV MT-ND5 protein_coding - - - 5876 m.14067C>T 14067 C T 56 0.007707129 0 0.000000000 7266 0.007707129 MT_14067_C/T homo ENSG00000198786 synonymous_variant acC/acT - LOW SNV MT-ND5 protein_coding - - - 5877 m.14070A>C 14070 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14070_A/C homo ENSG00000198786 synonymous_variant tcA/tcC - LOW SNV MT-ND5 protein_coding - - - 5878 m.14070A>G 14070 A G 12 0.001651528 0 0.000000000 7266 0.001651528 MT_14070_A/G homo ENSG00000198786 synonymous_variant tcA/tcG rs879201732 LOW SNV MT-ND5 protein_coding - - - 5879 m.14071A>G 14071 A G 7 0.000963391 1 0.000137627 7266 0.001101018 MT_14071_A/G homo&heter ENSG00000198786 missense_variant Acc/Gcc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.29) benign(0.318) - 5880 m.14073C>T 14073 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14073_C/T homo ENSG00000198786 synonymous_variant acC/acT - LOW SNV MT-ND5 protein_coding - - - 5881 m.14079A>G 14079 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14079_A/G homo ENSG00000198786 synonymous_variant aaA/aaG - LOW SNV MT-ND5 protein_coding - - - 5882 m.14081G>A 14081 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14081_G/A heter ENSG00000198786 missense_variant gGc/gAc COSV62378189 MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) probably_damaging(1) - 5883 m.14082C>T 14082 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14082_C/T homo ENSG00000198786 synonymous_variant ggC/ggT - LOW SNV MT-ND5 protein_coding - - - 5884 m.14083A>C 14083 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14083_A/C heter ENSG00000198786 missense_variant Ata/Cta - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0.005) - 5885 m.14088T>C 14088 T C 21 0.002890173 0 0.000000000 7266 0.002890173 MT_14088_T/C homo ENSG00000198786 synonymous_variant atT/atC rs193302974 LOW SNV MT-ND5 protein_coding - - - 5886 m.14091A>G 14091 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14091_A/G homo ENSG00000198786 synonymous_variant aaA/aaG - LOW SNV MT-ND5 protein_coding - - - 5887 m.14094T>C 14094 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_14094_T/C homo ENSG00000198786 synonymous_variant ctT/ctC rs376259144,COSV62378015 LOW SNV MT-ND5 protein_coding - - - 5888 m.14097C>T 14097 C T 10 0.001376273 1 0.000137627 7266 0.001513900 MT_14097_C/T homo&heter ENSG00000198786 synonymous_variant taC/taT rs1556424382,COSV62378377 LOW SNV MT-ND5 protein_coding - - - 5889 m.14099T>C 14099 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14099_T/C heter ENSG00000198786 missense_variant tTc/tCc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.07) benign(0.131) - 5890 m.14100C>T 14100 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_14100_C/T homo ENSG00000198786 synonymous_variant ttC/ttT - LOW SNV MT-ND5 protein_coding - - - 5891 m.14106T>C 14106 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14106_T/C heter ENSG00000198786 synonymous_variant tcT/tcC - LOW SNV MT-ND5 protein_coding - - - 5892 m.14107T>C 14107 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14107_T/C heter ENSG00000198786 missense_variant Ttc/Ctc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.01) benign(0.131) - 5893 m.14109C>T 14109 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14109_C/T homo ENSG00000198786 synonymous_variant ttC/ttT - LOW SNV MT-ND5 protein_coding - - - 5894 m.14110T>C 14110 T C 37 0.005092210 0 0.000000000 7266 0.005092210 MT_14110_T/C homo ENSG00000198786 missense_variant Ttc/Ctc rs371451099,COSV62378259 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0.131) - 5895 m.14114T>C 14114 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14114_T/C heter ENSG00000198786 missense_variant tTc/tCc - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) benign(0.131) - 5896 m.14115C>T 14115 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14115_C/T homo ENSG00000198786 synonymous_variant ttC/ttT - LOW SNV MT-ND5 protein_coding - - - 5897 m.14116C>T 14116 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14116_C/T homo ENSG00000198786 missense_variant Cca/Tca - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.7) benign(0.131) - 5898 m.14118A>C 14118 A C 2 0.000275255 3 0.000412882 7266 0.000688137 MT_14118_A/C homo&heter ENSG00000198786 synonymous_variant ccA/ccC - LOW SNV MT-ND5 protein_coding - - - 5899 m.14118A>G 14118 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_14118_A/G homo ENSG00000198786 synonymous_variant ccA/ccG rs1556424383 LOW SNV MT-ND5 protein_coding - - - 5900 m.14120T>C 14120 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_14120_T/C heter ENSG00000198786 missense_variant cTc/cCc COSV62377648 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.13) possibly_damaging(0.483) - 5901 m.14122A>G 14122 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_14122_A/G homo&heter ENSG00000198786 missense_variant Atc/Gtc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.59) benign(0.131) - 5902 m.14123T>C 14123 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14123_T/C heter ENSG00000198786 missense_variant aTc/aCc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) benign(0.131) - 5903 m.14124C>T 14124 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_14124_C/T homo ENSG00000198786 synonymous_variant atC/atT - LOW SNV MT-ND5 protein_coding - - - 5904 m.14125C>T 14125 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14125_C/T homo ENSG00000198786 synonymous_variant Cta/Tta rs1556424384,COSV62377922 LOW SNV MT-ND5 protein_coding - - - 5905 m.14126T>C 14126 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14126_T/C heter ENSG00000198786 missense_variant cTa/cCa - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0) possibly_damaging(0.483) - 5906 m.14128A>G 14128 A G 31 0.004266446 2 0.000275255 7266 0.004541701 MT_14128_A/G homo&heter ENSG00000198786 missense_variant Acc/Gcc rs386829201 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(1) possibly_damaging(0.483) - 5907 m.14129C>T 14129 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14129_C/T homo ENSG00000198786 missense_variant aCc/aTc rs879039557 MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.44) possibly_damaging(0.483) - 5908 m.14130C>G 14130 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14130_C/G homo ENSG00000198786 synonymous_variant acC/acG - LOW SNV MT-ND5 protein_coding - - - 5909 m.14130C>T 14130 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14130_C/T homo ENSG00000198786 synonymous_variant acC/acT rs368165609 LOW SNV MT-ND5 protein_coding - - - 5910 m.14131C>T 14131 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_14131_C/T homo ENSG00000198786 synonymous_variant Cta/Tta - LOW SNV MT-ND5 protein_coding - - - 5911 m.14132T>C 14132 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_14132_T/C heter ENSG00000198786 missense_variant cTa/cCa - MODERATE SNV MT-ND5 protein_coding deleterious_low_confidence(0.03) possibly_damaging(0.483) - 5912 m.14133A>G 14133 A G 33 0.004541701 1 0.000137627 7266 0.004679328 MT_14133_A/G homo&heter ENSG00000198786 synonymous_variant ctA/ctG rs879100848 LOW SNV MT-ND5 protein_coding - - benign 5913 m.14139A>G 14139 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14139_A/G homo ENSG00000198786 synonymous_variant ctA/ctG rs878918283 LOW SNV MT-ND5 protein_coding - - - 5914 m.14140A>G 14140 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14140_A/G homo ENSG00000198786 missense_variant Atc/Gtc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.41) benign(0.131) - 5915 m.14141T>C 14141 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14141_T/C heter ENSG00000198786 missense_variant aTc/aCc - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.12) benign(0.131) - 5916 m.14142C>A 14142 C A 6 0.000825764 0 0.000000000 7266 0.000825764 MT_14142_C/A homo ENSG00000198786 missense_variant atC/atA - MODERATE SNV MT-ND5 protein_coding tolerated_low_confidence(0.6) benign(0.131) - 5917 m.14142C>T 14142 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14142_C/T homo ENSG00000198786 synonymous_variant atC/atT - LOW SNV MT-ND5 protein_coding - - - 5918 m.14148A>G 14148 A G 43 0.005917974 3 0.000412882 7266 0.006330856 MT_14148_A/G homo&heter ENSG00000198786 stop_retained_variant taA/taG rs28357668 LOW SNV MT-ND5 protein_coding - - likely_benign 5919 m.14149C>T 14149 C T 21 0.002890173 0 0.000000000 7266 0.002890173 MT_14149_C/T homo ENSG00000198695 stop_retained_variant agG/agA - LOW SNV MT-ND6 protein_coding - - - 5920 m.14151T>C 14151 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14151_T/C heter ENSG00000198695 stop_lost Agg/Ggg - HIGH SNV MT-ND6 protein_coding - - - 5921 m.14152A>G 14152 A G 36 0.004954583 1 0.000137627 7266 0.005092210 MT_14152_A/G homo&heter ENSG00000198695 synonymous_variant aaT/aaC rs28357669 LOW SNV MT-ND6 protein_coding - - - 5922 m.14153T>C 14153 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_14153_T/C heter ENSG00000198695 missense_variant aAt/aGt - MODERATE SNV MT-ND6 protein_coding tolerated(0.11) probably_damaging(0.986) - 5923 m.14155C>T 14155 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_14155_C/T homo ENSG00000198695 synonymous_variant ggG/ggA - LOW SNV MT-ND6 protein_coding - - - 5924 m.14158C>T 14158 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14158_C/T homo ENSG00000198695 synonymous_variant cgG/cgA rs1556424391 LOW SNV MT-ND6 protein_coding - - - 5925 m.14160G>A 14160 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14160_G/A heter ENSG00000198695 missense_variant Cgg/Tgg COSV62378232 MODERATE SNV MT-ND6 protein_coding deleterious(0) probably_damaging(0.999) - 5926 m.14162G>A 14162 G A 1 0.000137627 2 0.000275255 7266 0.000412882 MT_14162_G/A homo&heter ENSG00000198695 missense_variant gCt/gTt COSV62377623 MODERATE SNV MT-ND6 protein_coding tolerated(0.3) benign(0.003) - 5927 m.14165A>G 14165 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14165_A/G heter ENSG00000198695 missense_variant aTt/aCt - MODERATE SNV MT-ND6 protein_coding deleterious(0) possibly_damaging(0.821) - 5928 m.14167C>T 14167 C T 43 0.005917974 0 0.000000000 7266 0.005917974 MT_14167_C/T homo ENSG00000198695 synonymous_variant gaG/gaA rs193302977 LOW SNV MT-ND6 protein_coding - - - 5929 m.14172T>C 14172 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_14172_T/C heter ENSG00000198695 missense_variant Att/Gtt - MODERATE SNV MT-ND6 protein_coding tolerated(0.06) probably_damaging(0.994) - 5930 m.14173T>C 14173 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14173_T/C homo ENSG00000198695 synonymous_variant gtA/gtG - LOW SNV MT-ND6 protein_coding - - - 5931 m.14176A>G 14176 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14176_A/G homo ENSG00000198695 synonymous_variant atT/atC - LOW SNV MT-ND6 protein_coding - - - 5932 m.14178T>C 14178 T C 240 0.033030553 4 0.000550509 7266 0.033581062 MT_14178_T/C homo&heter ENSG00000198695 missense_variant Att/Gtt rs28357671 MODERATE SNV MT-ND6 protein_coding tolerated(0.62) benign(0.023) - 5933 m.14179A>G 14179 A G 16 0.002202037 0 0.000000000 7266 0.002202037 MT_14179_A/G homo ENSG00000198695 synonymous_variant taT/taC rs878941565 LOW SNV MT-ND6 protein_coding - - - 5934 m.14180T>C 14180 T C 39 0.005367465 3 0.000412882 7266 0.005780347 MT_14180_T/C homo&heter ENSG00000198695 missense_variant tAt/tGt rs200933339 MODERATE SNV MT-ND6 protein_coding deleterious(0.01) probably_damaging(0.91) - 5935 m.14181A>G 14181 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14181_A/G homo ENSG00000198695 missense_variant Tat/Cat - MODERATE SNV MT-ND6 protein_coding tolerated(0.16) benign(0.007) - 5936 m.14182T>C 14182 T C 73 0.010046793 0 0.000000000 7266 0.010046793 MT_14182_T/C homo ENSG00000198695 synonymous_variant gtA/gtG rs372515139 LOW SNV MT-ND6 protein_coding - - - 5937 m.14185A>G 14185 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_14185_A/G heter ENSG00000198695 synonymous_variant ggT/ggC - LOW SNV MT-ND6 protein_coding - - - 5938 m.14187C>T 14187 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14187_C/T homo ENSG00000198695 missense_variant Ggt/Agt - MODERATE SNV MT-ND6 protein_coding tolerated(0.47) probably_damaging(1) - 5939 m.14188A>G 14188 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14188_A/G homo ENSG00000198695 synonymous_variant gtT/gtC - LOW SNV MT-ND6 protein_coding - - - 5940 m.14189A>G 14189 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14189_A/G homo ENSG00000198695 missense_variant gTt/gCt - MODERATE SNV MT-ND6 protein_coding tolerated(0.16) possibly_damaging(0.448) - 5941 m.14193A>G 14193 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14193_A/G homo ENSG00000198695 missense_variant Ttt/Ctt rs1556424397 MODERATE SNV MT-ND6 protein_coding tolerated(0.2) benign(0.038) - 5942 m.14194C>T 14194 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14194_C/T homo ENSG00000198695 synonymous_variant ttG/ttA - LOW SNV MT-ND6 protein_coding - - - 5943 m.14196A>G 14196 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14196_A/G heter ENSG00000198695 synonymous_variant Ttg/Ctg - LOW SNV MT-ND6 protein_coding - - - 5944 m.14197T>C 14197 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14197_T/C homo ENSG00000198695 synonymous_variant acA/acG - LOW SNV MT-ND6 protein_coding - - - 5945 m.14198G>A 14198 G A 9 0.001238646 1 0.000137627 7266 0.001376273 MT_14198_G/A homo&heter ENSG00000198695 missense_variant aCa/aTa - MODERATE SNV MT-ND6 protein_coding tolerated(0.08) probably_damaging(0.969) - 5946 m.14199T>C 14199 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14199_T/C heter ENSG00000198695 missense_variant Aca/Gca - MODERATE SNV MT-ND6 protein_coding tolerated(0.3) benign(0.038) - 5947 m.14200T>C 14200 T C 49 0.006743738 0 0.000000000 7266 0.006743738 MT_14200_T/C homo ENSG00000198695 synonymous_variant tgA/tgG rs386829205 LOW SNV MT-ND6 protein_coding - - - 5948 m.14203A>G 14203 A G 109 0.015001376 0 0.000000000 7266 0.015001376 MT_14203_A/G homo ENSG00000198695 synonymous_variant ggT/ggC rs1569484633 LOW SNV MT-ND6 protein_coding - - - 5949 m.14206A>G 14206 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14206_A/G homo ENSG00000198695 synonymous_variant acT/acC - LOW SNV MT-ND6 protein_coding - - - 5950 m.14206A>T 14206 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14206_A/T homo ENSG00000198695 synonymous_variant acT/acA - LOW SNV MT-ND6 protein_coding - - - 5951 m.14207G>A 14207 G A 4 0.000550509 3 0.000412882 7266 0.000963391 MT_14207_G/A homo&heter ENSG00000198695 missense_variant aCt/aTt rs879217937 MODERATE SNV MT-ND6 protein_coding deleterious(0.01) benign(0.331) - 5952 m.14207G>C 14207 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14207_G/C heter ENSG00000198695 missense_variant aCt/aGt - MODERATE SNV MT-ND6 protein_coding tolerated(0.55) benign(0.355) - 5953 m.14208T>C 14208 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14208_T/C homo ENSG00000198695 missense_variant Act/Gct COSV62377737 MODERATE SNV MT-ND6 protein_coding tolerated(1) benign(0.011) - 5954 m.14209A>G 14209 A G 18 0.002477291 0 0.000000000 7266 0.002477291 MT_14209_A/G homo ENSG00000198695 synonymous_variant gtT/gtC rs375812335 LOW SNV MT-ND6 protein_coding - - - 5955 m.14210A>G 14210 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_14210_A/G homo&heter ENSG00000198695 missense_variant gTt/gCt - MODERATE SNV MT-ND6 protein_coding deleterious(0.02) probably_damaging(0.997) - 5956 m.14211C>T 14211 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14211_C/T homo ENSG00000198695 missense_variant Gtt/Att - MODERATE SNV MT-ND6 protein_coding tolerated(0.15) probably_damaging(0.997) - 5957 m.14212T>C 14212 T C 153 0.021056978 0 0.000000000 7266 0.021056978 MT_14212_T/C homo ENSG00000198695 synonymous_variant gtA/gtG rs28357672 LOW SNV MT-ND6 protein_coding - - - 5958 m.14215T>C 14215 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_14215_T/C homo&heter ENSG00000198695 synonymous_variant gtA/gtG rs879144433 LOW SNV MT-ND6 protein_coding - - - 5959 m.14218T>C 14218 T C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_14218_T/C homo ENSG00000198695 synonymous_variant ttA/ttG rs28553869 LOW SNV MT-ND6 protein_coding - - - 5960 m.14220A>G 14220 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14220_A/G homo ENSG00000198695 synonymous_variant Tta/Cta rs1556424403 LOW SNV MT-ND6 protein_coding - - - 5961 m.14221T>C 14221 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_14221_T/C homo ENSG00000198695 synonymous_variant tgA/tgG rs879209684 LOW SNV MT-ND6 protein_coding - - - 5962 m.14225C>T 14225 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14225_C/T homo ENSG00000198695 missense_variant cGt/cAt - MODERATE SNV MT-ND6 protein_coding tolerated(0.51) possibly_damaging(0.752) - 5963 m.14226G>A 14226 G A 6 0.000825764 0 0.000000000 7266 0.000825764 MT_14226_G/A homo ENSG00000198695 missense_variant Cgt/Tgt - MODERATE SNV MT-ND6 protein_coding tolerated(0.24) benign(0.011) - 5964 m.14227C>T 14227 C T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_14227_C/T homo ENSG00000198695 synonymous_variant ggG/ggA rs372138080 LOW SNV MT-ND6 protein_coding - - - 5965 m.14230A>G 14230 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14230_A/G homo ENSG00000198695 synonymous_variant taT/taC - LOW SNV MT-ND6 protein_coding - - - 5966 m.14231T>C 14231 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14231_T/C heter ENSG00000198695 missense_variant tAt/tGt - MODERATE SNV MT-ND6 protein_coding tolerated(0.37) probably_damaging(1) - 5967 m.14233A>G 14233 A G 65 0.008945775 1 0.000137627 7266 0.009083402 MT_14233_A/G homo&heter ENSG00000198695 synonymous_variant gaT/gaC rs3915611,COSV62377874 LOW SNV MT-ND6 protein_coding - - - 5968 m.14239C>T 14239 C T 13 0.001789155 0 0.000000000 7266 0.001789155 MT_14239_C/T homo ENSG00000198695 synonymous_variant ttG/ttA - LOW SNV MT-ND6 protein_coding - - - 5969 m.14242A>G 14242 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14242_A/G homo ENSG00000198695 synonymous_variant gcT/gcC - LOW SNV MT-ND6 protein_coding - - - 5970 m.14245C>T 14245 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14245_C/T homo ENSG00000198695 synonymous_variant ggG/ggA - LOW SNV MT-ND6 protein_coding - - - 5971 m.14248C>T 14248 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_14248_C/T homo ENSG00000198695 synonymous_variant gcG/gcA - LOW SNV MT-ND6 protein_coding - - - 5972 m.14249G>A 14249 G A 3 0.000412882 1 0.000137627 7266 0.000550509 MT_14249_G/A homo&heter ENSG00000198695 missense_variant gCg/gTg rs1556424407 MODERATE SNV MT-ND6 protein_coding tolerated(1) benign(0.309) - 5973 m.14249G>C 14249 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14249_G/C heter ENSG00000198695 missense_variant gCg/gGg - MODERATE SNV MT-ND6 protein_coding tolerated(0.07) probably_damaging(0.933) - 5974 m.14251A>G 14251 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14251_A/G homo ENSG00000198695 synonymous_variant ggT/ggC rs1556424409 LOW SNV MT-ND6 protein_coding - - - 5975 m.14256T>C 14256 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_14256_T/C homo ENSG00000198695 missense_variant Att/Gtt - MODERATE SNV MT-ND6 protein_coding tolerated(0.94) benign(0.246) - 5976 m.14257A>G 14257 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14257_A/G homo ENSG00000198695 synonymous_variant ccT/ccC rs1556424411 LOW SNV MT-ND6 protein_coding - - - 5977 m.14258G>A 14258 G A 6 0.000825764 0 0.000000000 7266 0.000825764 MT_14258_G/A homo ENSG00000198695 missense_variant cCt/cTt rs202227543 MODERATE SNV MT-ND6 protein_coding tolerated(0.62) benign(0.338) - 5978 m.14259G>A 14259 G A 5 0.000688137 2 0.000275255 7266 0.000963391 MT_14259_G/A homo&heter ENSG00000198695 missense_variant Cct/Tct - MODERATE SNV MT-ND6 protein_coding tolerated(0.47) benign(0.007) - 5979 m.14259G>C 14259 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14259_G/C homo ENSG00000198695 missense_variant Cct/Gct - MODERATE SNV MT-ND6 protein_coding tolerated(0.53) benign(0.165) - 5980 m.14260A>G 14260 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_14260_A/G homo ENSG00000198695 synonymous_variant gaT/gaC rs386829207 LOW SNV MT-ND6 protein_coding - - - 5981 m.14261T>C 14261 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14261_T/C heter ENSG00000198695 missense_variant gAt/gGt COSV62377696 MODERATE SNV MT-ND6 protein_coding tolerated(0.15) probably_damaging(1) - 5982 m.14263C>T 14263 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14263_C/T homo ENSG00000198695 synonymous_variant gaG/gaA - LOW SNV MT-ND6 protein_coding - - - 5983 m.14266C>T 14266 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14266_C/T homo ENSG00000198695 synonymous_variant cgG/cgA - LOW SNV MT-ND6 protein_coding - - - 5984 m.14268G>A 14268 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_14268_G/A heter ENSG00000198695 missense_variant Cgg/Tgg - MODERATE SNV MT-ND6 protein_coding tolerated(0.17) probably_damaging(0.992) - 5985 m.14271T>C 14271 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14271_T/C heter ENSG00000198695 missense_variant Att/Gtt - MODERATE SNV MT-ND6 protein_coding tolerated(1) benign(0.007) - 5986 m.14272C>T 14272 C T 10 0.001376273 1 0.000137627 7266 0.001513900 MT_14272_C/T homo&heter ENSG00000198695 synonymous_variant ttG/ttA COSV62378414 LOW SNV MT-ND6 protein_coding - - - 5987 m.14274A>G 14274 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14274_A/G homo ENSG00000198695 synonymous_variant Ttg/Ctg - LOW SNV MT-ND6 protein_coding - - - 5988 m.14276C>A 14276 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14276_C/A homo ENSG00000198695 missense_variant gGg/gTg - MODERATE SNV MT-ND6 protein_coding deleterious(0.02) probably_damaging(0.982) - 5989 m.14278T>C 14278 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14278_T/C homo ENSG00000198695 synonymous_variant tcA/tcG - LOW SNV MT-ND6 protein_coding - - - 5990 m.14279G>A 14279 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14279_G/A homo ENSG00000198695 missense_variant tCa/tTa rs869025187,COSV62377821 MODERATE SNV MT-ND6 protein_coding tolerated(0.66) benign(0.011) uncertain_significance,pathogenic 5991 m.14280A>G 14280 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_14280_A/G homo ENSG00000198695 missense_variant Tca/Cca - MODERATE SNV MT-ND6 protein_coding tolerated(0.21) benign(0.005) - 5992 m.14281C>T 14281 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14281_C/T homo ENSG00000198695 synonymous_variant ggG/ggA rs1556424416 LOW SNV MT-ND6 protein_coding - - - 5993 m.14284C>T 14284 C T 60 0.008257638 0 0.000000000 7266 0.008257638 MT_14284_C/T homo ENSG00000198695 synonymous_variant gaG/gaA rs28357673 LOW SNV MT-ND6 protein_coding - - - 5994 m.14287T>C 14287 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_14287_T/C homo ENSG00000198695 synonymous_variant ggA/ggG COSV62378585 LOW SNV MT-ND6 protein_coding - - - 5995 m.14290T>C 14290 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_14290_T/C homo ENSG00000198695 synonymous_variant gaA/gaG rs879023200 LOW SNV MT-ND6 protein_coding - - - 5996 m.14291T>C 14291 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_14291_T/C heter ENSG00000198695 missense_variant gAa/gGa COSV62378371 MODERATE SNV MT-ND6 protein_coding tolerated(0.21) probably_damaging(0.999) - 5997 m.14298T>C 14298 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14298_T/C homo ENSG00000198695 missense_variant Att/Gtt rs879200945 MODERATE SNV MT-ND6 protein_coding tolerated(0.74) benign(0.019) - 5998 m.14299T>C 14299 T C 18 0.002477291 0 0.000000000 7266 0.002477291 MT_14299_T/C homo ENSG00000198695 synonymous_variant atA/atG - LOW SNV MT-ND6 protein_coding - - - 5999 m.14302T>C 14302 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_14302_T/C homo ENSG00000198695 synonymous_variant tgA/tgG - LOW SNV MT-ND6 protein_coding - - - 6000 m.14305G>A 14305 G A 35 0.004816956 2 0.000275255 7266 0.005092210 MT_14305_G/A homo&heter ENSG00000198695 synonymous_variant agC/agT rs386829208,COSV62377914 LOW SNV MT-ND6 protein_coding - - - 6001 m.14308T>C 14308 T C 131 0.018029177 0 0.000000000 7266 0.018029177 MT_14308_T/C homo ENSG00000198695 synonymous_variant ggA/ggG rs28357674 LOW SNV MT-ND6 protein_coding - - - 6002 m.14311T>C 14311 T C 29 0.003991192 0 0.000000000 7266 0.003991192 MT_14311_T/C homo ENSG00000198695 synonymous_variant gtA/gtG rs1556424422 LOW SNV MT-ND6 protein_coding - - - 6003 m.14313C>T 14313 C T 3 0.000412882 1 0.000137627 7266 0.000550509 MT_14313_C/T homo&heter ENSG00000198695 missense_variant Gta/Ata - MODERATE SNV MT-ND6 protein_coding tolerated(1) benign(0.031) - 6004 m.14314A>G 14314 A G 4 0.000550509 1 0.000137627 7266 0.000688137 MT_14314_A/G homo&heter ENSG00000198695 synonymous_variant agT/agC - LOW SNV MT-ND6 protein_coding - - - 6005 m.14315C>T 14315 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14315_C/T homo ENSG00000198695 missense_variant aGt/aAt - MODERATE SNV MT-ND6 protein_coding tolerated(0.37) benign(0.003) - 6006 m.14316T>C 14316 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14316_T/C homo ENSG00000198695 missense_variant Agt/Ggt - MODERATE SNV MT-ND6 protein_coding tolerated(1) benign(0.082) - 6007 m.14318T>C 14318 T C 241 0.033168181 0 0.000000000 7266 0.033168181 MT_14318_T/C homo ENSG00000198695 missense_variant aAt/aGt rs28357675 MODERATE SNV MT-ND6 protein_coding tolerated(0.33) benign(0.017) - 6008 m.14319T>C 14319 T C 18 0.002477291 0 0.000000000 7266 0.002477291 MT_14319_T/C homo ENSG00000198695 missense_variant Aat/Gat rs199476110 MODERATE SNV MT-ND6 protein_coding tolerated(0.75) benign(0.003) benign,risk_factor 6009 m.14320A>G 14320 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14320_A/G homo ENSG00000198695 synonymous_variant ttT/ttC - LOW SNV MT-ND6 protein_coding - - - 6010 m.14322A>G 14322 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_14322_A/G homo ENSG00000198695 missense_variant Ttt/Ctt - MODERATE SNV MT-ND6 protein_coding tolerated(0.17) benign(0.007) - 6011 m.14323G>A 14323 G A 71 0.009771539 0 0.000000000 7266 0.009771539 MT_14323_G/A homo ENSG00000198695 synonymous_variant aaC/aaT rs879208488,COSV62377908 LOW SNV MT-ND6 protein_coding - - - 6012 m.14325T>C 14325 T C 6 0.000825764 2 0.000275255 7266 0.001101018 MT_14325_T/C homo&heter ENSG00000198695 missense_variant Aac/Gac rs397515505,COSV62378462 MODERATE SNV MT-ND6 protein_coding tolerated(0.63) benign(0.355) benign,pathogenic 6013 m.14326T>C 14326 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14326_T/C homo ENSG00000198695 synonymous_variant gtA/gtG rs879044749 LOW SNV MT-ND6 protein_coding - - - 6014 m.14329C>T 14329 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14329_C/T homo ENSG00000198695 synonymous_variant gtG/gtA - LOW SNV MT-ND6 protein_coding - - - 6015 m.14330A>G 14330 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14330_A/G homo ENSG00000198695 missense_variant gTg/gCg - MODERATE SNV MT-ND6 protein_coding deleterious(0.05) benign(0.001) - 6016 m.14334C>T 14334 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14334_C/T homo ENSG00000198695 missense_variant Gtt/Att - MODERATE SNV MT-ND6 protein_coding tolerated(0.41) benign(0.043) - 6017 m.14335C>T 14335 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14335_C/T homo ENSG00000198695 synonymous_variant gtG/gtA rs1556424426 LOW SNV MT-ND6 protein_coding - - - 6018 m.14337C>T 14337 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14337_C/T homo ENSG00000198695 missense_variant Gtg/Atg - MODERATE SNV MT-ND6 protein_coding tolerated(0.17) probably_damaging(0.92) - 6019 m.14340C>T 14340 C T 16 0.002202037 0 0.000000000 7266 0.002202037 MT_14340_C/T homo ENSG00000198695 missense_variant Gtg/Atg - MODERATE SNV MT-ND6 protein_coding tolerated(0.16) possibly_damaging(0.537) - 6020 m.14344A>G 14344 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14344_A/G homo ENSG00000198695 synonymous_variant gaT/gaC - LOW SNV MT-ND6 protein_coding - - - 6021 m.14348T>C 14348 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14348_T/C heter ENSG00000198695 missense_variant tAt/tGt - MODERATE SNV MT-ND6 protein_coding tolerated(0.17) benign(0.001) - 6022 m.14350C>T 14350 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14350_C/T homo ENSG00000198695 synonymous_variant gaG/gaA - LOW SNV MT-ND6 protein_coding - - - 6023 m.14351T>C 14351 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_14351_T/C homo&heter ENSG00000198695 missense_variant gAg/gGg COSV62377844 MODERATE SNV MT-ND6 protein_coding tolerated(0.58) benign(0.129) - 6024 m.14353T>C 14353 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_14353_T/C homo&heter ENSG00000198695 synonymous_variant aaA/aaG COSV62378283 LOW SNV MT-ND6 protein_coding - - - 6025 m.14355T>C 14355 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14355_T/C heter ENSG00000198695 missense_variant Aaa/Gaa - MODERATE SNV MT-ND6 protein_coding tolerated(0.4) benign(0.129) - 6026 m.14356C>T 14356 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14356_C/T homo ENSG00000198695 synonymous_variant gtG/gtA rs386829209 LOW SNV MT-ND6 protein_coding - - - 6027 m.14357A>G 14357 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14357_A/G homo ENSG00000198695 missense_variant gTg/gCg - MODERATE SNV MT-ND6 protein_coding tolerated(0.26) benign(0.01) - 6028 m.14364G>A 14364 G A 35 0.004816956 2 0.000275255 7266 0.005092210 MT_14364_G/A homo&heter ENSG00000198695 synonymous_variant Ctg/Ttg rs879086798,COSV62378185 LOW SNV MT-ND6 protein_coding - - - 6029 m.14365C>T 14365 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_14365_C/T homo ENSG00000198695 synonymous_variant gtG/gtA rs2853815 LOW SNV MT-ND6 protein_coding - - - 6030 m.14368C>T 14368 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14368_C/T homo ENSG00000198695 synonymous_variant ttG/ttA - LOW SNV MT-ND6 protein_coding - - - 6031 m.14370A>G 14370 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14370_A/G homo ENSG00000198695 synonymous_variant Ttg/Ctg - LOW SNV MT-ND6 protein_coding - - - 6032 m.14371T>C 14371 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14371_T/C homo ENSG00000198695 synonymous_variant ggA/ggG rs386829210 LOW SNV MT-ND6 protein_coding - - - 6033 m.14374T>C 14374 T C 14 0.001926782 0 0.000000000 7266 0.001926782 MT_14374_T/C homo ENSG00000198695 synonymous_variant gtA/gtG - LOW SNV MT-ND6 protein_coding - - - 6034 m.14375A>G 14375 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_14375_A/G heter ENSG00000198695 missense_variant gTa/gCa - MODERATE SNV MT-ND6 protein_coding tolerated(0.13) benign(0.01) - 6035 m.14378T>C 14378 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14378_T/C heter ENSG00000198695 missense_variant gAg/gGg - MODERATE SNV MT-ND6 protein_coding deleterious(0.01) probably_damaging(0.999) - 6036 m.14383C>T 14383 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14383_C/T homo ENSG00000198695 synonymous_variant gcG/gcA - LOW SNV MT-ND6 protein_coding - - - 6037 m.14384G>A 14384 G A 20 0.002752546 0 0.000000000 7266 0.002752546 MT_14384_G/A homo ENSG00000198695 missense_variant gCg/gTg rs1556424435 MODERATE SNV MT-ND6 protein_coding tolerated(0.62) benign(0.003) - 6038 m.14386T>C 14386 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_14386_T/C homo ENSG00000198695 synonymous_variant ttA/ttG - LOW SNV MT-ND6 protein_coding - - - 6039 m.14388A>G 14388 A G 4 0.000550509 1 0.000137627 7266 0.000688137 MT_14388_A/G homo&heter ENSG00000198695 synonymous_variant Tta/Cta - LOW SNV MT-ND6 protein_coding - - - 6040 m.14389C>T 14389 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14389_C/T homo ENSG00000198695 synonymous_variant ggG/ggA - LOW SNV MT-ND6 protein_coding - - - 6041 m.14392C>T 14392 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_14392_C/T homo ENSG00000198695 synonymous_variant gtG/gtA rs878982979 LOW SNV MT-ND6 protein_coding - - - 6042 m.14393A>G 14393 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14393_A/G homo ENSG00000198695 missense_variant gTg/gCg rs878853104 MODERATE SNV MT-ND6 protein_coding tolerated(0.06) benign(0.006) likely_benign,benign 6043 m.14395T>C 14395 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14395_T/C homo ENSG00000198695 synonymous_variant ttA/ttG - LOW SNV MT-ND6 protein_coding - - - 6044 m.14400C>T 14400 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14400_C/T heter ENSG00000198695 missense_variant Gtt/Att - MODERATE SNV MT-ND6 protein_coding deleterious(0.03) benign(0.08) - 6045 m.14404C>T 14404 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14404_C/T homo ENSG00000198695 synonymous_variant gtG/gtA rs386829211 LOW SNV MT-ND6 protein_coding - - - 6046 m.14405A>G 14405 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14405_A/G homo ENSG00000198695 missense_variant gTg/gCg - MODERATE SNV MT-ND6 protein_coding tolerated(0.07) benign(0.001) - 6047 m.14407C>T 14407 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14407_C/T homo ENSG00000198695 synonymous_variant ttG/ttA - LOW SNV MT-ND6 protein_coding - - - 6048 m.14410G>A 14410 G A 23 0.003165428 1 0.000137627 7266 0.003303055 MT_14410_G/A homo&heter ENSG00000198695 synonymous_variant gtC/gtT COSV62378358 LOW SNV MT-ND6 protein_coding - - - 6049 m.14417A>G 14417 A G 32 0.004404074 1 0.000137627 7266 0.004541701 MT_14417_A/G homo&heter ENSG00000198695 missense_variant gTt/gCt rs878905427 MODERATE SNV MT-ND6 protein_coding tolerated(0.58) benign(0.003) - 6050 m.14418C>T 14418 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14418_C/T homo ENSG00000198695 missense_variant Gtt/Att - MODERATE SNV MT-ND6 protein_coding tolerated(0.5) benign(0.007) - 6051 m.14419C>T 14419 C T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_14419_C/T homo ENSG00000198695 synonymous_variant ggG/ggA - LOW SNV MT-ND6 protein_coding - - - 6052 m.14420C>T 14420 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14420_C/T homo ENSG00000198695 missense_variant gGg/gAg rs1556424442 MODERATE SNV MT-ND6 protein_coding deleterious(0.02) probably_damaging(0.913) - 6053 m.14422T>C 14422 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14422_T/C heter ENSG00000198695 synonymous_variant tcA/tcG - LOW SNV MT-ND6 protein_coding - - - 6054 m.14423G>C 14423 G C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14423_G/C heter ENSG00000198695 missense_variant tCa/tGa COSV62377652 MODERATE SNV MT-ND6 protein_coding deleterious(0) probably_damaging(1) - 6055 m.14424A>G 14424 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_14424_A/G heter ENSG00000198695 missense_variant Tca/Cca - MODERATE SNV MT-ND6 protein_coding deleterious(0) probably_damaging(0.999) - 6056 m.14424A>T 14424 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14424_A/T homo ENSG00000198695 missense_variant Tca/Aca - MODERATE SNV MT-ND6 protein_coding deleterious(0.03) probably_damaging(0.998) - 6057 m.14428C>T 14428 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_14428_C/T homo ENSG00000198695 synonymous_variant tgG/tgA - LOW SNV MT-ND6 protein_coding - - - 6058 m.14431T>C 14431 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14431_T/C homo ENSG00000198695 synonymous_variant gcA/gcG - LOW SNV MT-ND6 protein_coding - - - 6059 m.14432G>A 14432 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14432_G/A heter ENSG00000198695 missense_variant gCa/gTa COSV62378388 MODERATE SNV MT-ND6 protein_coding tolerated(0.6) possibly_damaging(0.537) - 6060 m.14433C>T 14433 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14433_C/T homo ENSG00000198695 missense_variant Gca/Aca rs1556424444 MODERATE SNV MT-ND6 protein_coding tolerated(1) benign(0.015) - 6061 m.14440A>G 14440 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_14440_A/G homo ENSG00000198695 synonymous_variant taT/taC - LOW SNV MT-ND6 protein_coding - - - 6062 m.14443C>T 14443 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_14443_C/T homo ENSG00000198695 synonymous_variant gaG/gaA - LOW SNV MT-ND6 protein_coding - - - 6063 m.14446C>T 14446 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_14446_C/T homo ENSG00000198695 synonymous_variant gaG/gaA - LOW SNV MT-ND6 protein_coding - - - 6064 m.14449A>G 14449 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14449_A/G homo ENSG00000198695 synonymous_variant atT/atC - LOW SNV MT-ND6 protein_coding - - - 6065 m.14452A>G 14452 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14452_A/G homo ENSG00000198695 synonymous_variant gcT/gcC rs879179740 LOW SNV MT-ND6 protein_coding - - - 6066 m.14455C>T 14455 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14455_C/T homo ENSG00000198695 synonymous_variant atG/atA - LOW SNV MT-ND6 protein_coding - - - 6067 m.14456A>G 14456 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14456_A/G heter ENSG00000198695 missense_variant aTg/aCg - MODERATE SNV MT-ND6 protein_coding deleterious(0) probably_damaging(0.993) - 6068 m.14458C>T 14458 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14458_C/T homo ENSG00000198695 synonymous_variant gcG/gcA - LOW SNV MT-ND6 protein_coding - - - 6069 m.14459G>A 14459 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14459_G/A heter ENSG00000198695 missense_variant gCg/gTg rs199476105 MODERATE SNV MT-ND6 protein_coding deleterious(0) probably_damaging(0.999) pathogenic 6070 m.14461T>C 14461 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14461_T/C homo ENSG00000198695 synonymous_variant acA/acG - LOW SNV MT-ND6 protein_coding - - - 6071 m.14462G>A 14462 G A 0 0.000000000 4 0.000550509 7266 0.000550509 MT_14462_G/A heter ENSG00000198695 missense_variant aCa/aTa - MODERATE SNV MT-ND6 protein_coding deleterious(0.01) benign(0.166) - 6072 m.14463T>C 14463 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_14463_T/C homo&heter ENSG00000198695 missense_variant Aca/Gca - MODERATE SNV MT-ND6 protein_coding tolerated(0.4) benign(0.011) - 6073 m.14466T>C 14466 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14466_T/C heter ENSG00000198695 missense_variant Act/Gct - MODERATE SNV MT-ND6 protein_coding deleterious(0) probably_damaging(0.998) - 6074 m.14470T>A 14470 T A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14470_T/A homo ENSG00000198695 synonymous_variant ggA/ggT rs3135030 LOW SNV MT-ND6 protein_coding - - likely_benign 6075 m.14470T>C 14470 T C 225 0.030966144 2 0.000275255 7266 0.031241398 MT_14470_T/C homo&heter ENSG00000198695 synonymous_variant ggA/ggG rs3135030 LOW SNV MT-ND6 protein_coding - - - 6076 m.14476G>A 14476 G A 42 0.005780347 0 0.000000000 7266 0.005780347 MT_14476_G/A homo ENSG00000198695 synonymous_variant gtC/gtT rs1057520103 LOW SNV MT-ND6 protein_coding - - benign 6077 m.14480A>G 14480 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14480_A/G homo ENSG00000198695 missense_variant gTt/gCt - MODERATE SNV MT-ND6 protein_coding deleterious(0) possibly_damaging(0.778) - 6078 m.14482C>T 14482 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_14482_C/T homo ENSG00000198695 synonymous_variant atG/atA - LOW SNV MT-ND6 protein_coding - - - 6079 m.14484T>C 14484 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14484_T/C homo ENSG00000198695 missense_variant Atg/Gtg rs199476104 MODERATE SNV MT-ND6 protein_coding deleterious(0.02) probably_damaging(0.99) pathogenic 6080 m.14485C>T 14485 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14485_C/T homo ENSG00000198695 synonymous_variant atG/atA rs386829213 LOW SNV MT-ND6 protein_coding - - - 6081 m.14487T>C 14487 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14487_T/C heter ENSG00000198695 missense_variant Atg/Gtg rs199476109 MODERATE SNV MT-ND6 protein_coding deleterious(0) probably_damaging(0.99) pathogenic 6082 m.14488T>C 14488 T C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_14488_T/C homo ENSG00000198695 synonymous_variant ggA/ggG - LOW SNV MT-ND6 protein_coding - - - 6083 m.14491C>T 14491 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14491_C/T homo ENSG00000198695 synonymous_variant ggG/ggA - LOW SNV MT-ND6 protein_coding - - - 6084 m.14494T>C 14494 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_14494_T/C homo ENSG00000198695 synonymous_variant ttA/ttG rs879250748 LOW SNV MT-ND6 protein_coding - - - 6085 m.14496A>G 14496 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14496_A/G homo ENSG00000198695 synonymous_variant Tta/Cta - LOW SNV MT-ND6 protein_coding - - - 6086 m.14497A>G 14497 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14497_A/G homo ENSG00000198695 synonymous_variant taT/taC rs1556424454 LOW SNV MT-ND6 protein_coding - - - 6087 m.14501A>G 14501 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14501_A/G homo ENSG00000198695 missense_variant aTt/aCt - MODERATE SNV MT-ND6 protein_coding deleterious(0) benign(0.37) - 6088 m.14502T>C 14502 T C 75 0.010322048 0 0.000000000 7266 0.010322048 MT_14502_T/C homo ENSG00000198695 missense_variant Att/Gtt rs201327354 MODERATE SNV MT-ND6 protein_coding tolerated(0.6) benign(0.012) - 6089 m.14509A>G 14509 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_14509_A/G heter ENSG00000198695 synonymous_variant gtT/gtC - LOW SNV MT-ND6 protein_coding - - - 6090 m.14511C>T 14511 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14511_C/T homo ENSG00000198695 missense_variant Gtt/Att - MODERATE SNV MT-ND6 protein_coding deleterious(0.01) benign(0.311) - 6091 m.14512T>C 14512 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14512_T/C homo ENSG00000198695 synonymous_variant atA/atG rs879103744 LOW SNV MT-ND6 protein_coding - - - 6092 m.14514T>C 14514 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_14514_T/C homo&heter ENSG00000198695 missense_variant Ata/Gta - MODERATE SNV MT-ND6 protein_coding tolerated(0.24) benign(0.003) - 6093 m.14515T>C 14515 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14515_T/C homo ENSG00000198695 synonymous_variant ttA/ttG - LOW SNV MT-ND6 protein_coding - - - 6094 m.14518A>G 14518 A G 20 0.002752546 1 0.000137627 7266 0.002890173 MT_14518_A/G homo&heter ENSG00000198695 synonymous_variant ggT/ggC - LOW SNV MT-ND6 protein_coding - - - 6095 m.14518A>T 14518 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14518_A/T homo ENSG00000198695 synonymous_variant ggT/ggA - LOW SNV MT-ND6 protein_coding - - - 6096 m.14521C>T 14521 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14521_C/T homo ENSG00000198695 synonymous_variant atG/atA - LOW SNV MT-ND6 protein_coding - - - 6097 m.14524A>G 14524 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_14524_A/G homo ENSG00000198695 synonymous_variant taT/taC - LOW SNV MT-ND6 protein_coding - - - 6098 m.14527A>G 14527 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_14527_A/G homo ENSG00000198695 synonymous_variant ggT/ggC rs386829214 LOW SNV MT-ND6 protein_coding - - - 6099 m.14530T>C 14530 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14530_T/C heter ENSG00000198695 synonymous_variant ggA/ggG rs878975885 LOW SNV MT-ND6 protein_coding - - - 6100 m.14536A>G 14536 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14536_A/G homo ENSG00000198695 synonymous_variant ttT/ttC - LOW SNV MT-ND6 protein_coding - - - 6101 m.14536A>T 14536 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14536_A/T homo ENSG00000198695 missense_variant ttT/ttA - MODERATE SNV MT-ND6 protein_coding tolerated(0.58) benign(0.003) - 6102 m.14540T>C 14540 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14540_T/C heter ENSG00000198695 missense_variant aAt/aGt - MODERATE SNV MT-ND6 protein_coding tolerated(1) benign(0.005) - 6103 m.14542C>A 14542 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14542_C/A homo ENSG00000198695 synonymous_variant ctG/ctT - LOW SNV MT-ND6 protein_coding - - - 6104 m.14542C>T 14542 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14542_C/T homo ENSG00000198695 synonymous_variant ctG/ctA - LOW SNV MT-ND6 protein_coding - - - 6105 m.14544G>A 14544 G A 29 0.003991192 0 0.000000000 7266 0.003991192 MT_14544_G/A homo ENSG00000198695 synonymous_variant Ctg/Ttg rs371485573 LOW SNV MT-ND6 protein_coding - - - 6106 m.14547T>C 14547 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_14547_T/C heter ENSG00000198695 missense_variant Att/Gtt COSV62378217 MODERATE SNV MT-ND6 protein_coding tolerated(1) benign(0.005) - 6107 m.14551A>G 14551 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14551_A/G homo ENSG00000198695 synonymous_variant gtT/gtC rs377722239 LOW SNV MT-ND6 protein_coding - - - 6108 m.14552A>G 14552 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_14552_A/G homo ENSG00000198695 missense_variant gTt/gCt rs1556424459 MODERATE SNV MT-ND6 protein_coding tolerated(0.48) benign(0.001) - 6109 m.14553C>T 14553 C T 8 0.001101018 1 0.000137627 7266 0.001238646 MT_14553_C/T homo&heter ENSG00000198695 missense_variant Gtt/Att - MODERATE SNV MT-ND6 protein_coding tolerated(0.29) benign(0.003) - 6110 m.14554A>G 14554 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14554_A/G homo ENSG00000198695 synonymous_variant tgT/tgC - LOW SNV MT-ND6 protein_coding - - - 6111 m.14560G>A 14560 G A 228 0.031379026 1 0.000137627 7266 0.031516653 MT_14560_G/A homo&heter ENSG00000198695 synonymous_variant gtC/gtT rs28357676 LOW SNV MT-ND6 protein_coding - - - 6112 m.14560G>C 14560 G C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_14560_G/C homo ENSG00000198695 synonymous_variant gtC/gtG - LOW SNV MT-ND6 protein_coding - - - 6113 m.14562C>T 14562 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14562_C/T homo ENSG00000198695 missense_variant Gtc/Atc - MODERATE SNV MT-ND6 protein_coding tolerated(0.24) benign(0.06) - 6114 m.14563C>A 14563 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14563_C/A homo ENSG00000198695 synonymous_variant gtG/gtT - LOW SNV MT-ND6 protein_coding - - - 6115 m.14564A>G 14564 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_14564_A/G homo ENSG00000198695 missense_variant gTg/gCg rs1556424461 MODERATE SNV MT-ND6 protein_coding tolerated(0.25) benign(0.003) - 6116 m.14566A>C 14566 A C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_14566_A/C homo&heter ENSG00000198695 synonymous_variant ggT/ggG - LOW SNV MT-ND6 protein_coding - - - 6117 m.14566A>G 14566 A G 199 0.027387834 0 0.000000000 7266 0.027387834 MT_14566_A/G homo ENSG00000198695 synonymous_variant ggT/ggC rs28357677 LOW SNV MT-ND6 protein_coding - - - 6118 m.14569G>A 14569 G A 277 0.038122764 1 0.000137627 7266 0.038260391 MT_14569_G/A homo&heter ENSG00000198695 synonymous_variant agC/agT rs386420019,COSV62377702 LOW SNV MT-ND6 protein_coding - - - 6119 m.14573A>G 14573 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_14573_A/G heter ENSG00000198695 missense_variant gTt/gCt - MODERATE SNV MT-ND6 protein_coding tolerated(0.1) benign(0.166) - 6120 m.14575A>G 14575 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14575_A/G homo ENSG00000198695 synonymous_variant atT/atC - LOW SNV MT-ND6 protein_coding - - - 6121 m.14577T>G 14577 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14577_T/G homo ENSG00000198695 missense_variant Att/Ctt - MODERATE SNV MT-ND6 protein_coding deleterious(0.01) benign(0.01) - 6122 m.14581T>C 14581 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_14581_T/C homo ENSG00000198695 synonymous_variant gtA/gtG rs1556424467,COSV62377879 LOW SNV MT-ND6 protein_coding - - - 6123 m.14582A>G 14582 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_14582_A/G homo ENSG00000198695 missense_variant gTa/gCa rs41354845 MODERATE SNV MT-ND6 protein_coding tolerated(0.44) benign(0.011) - 6124 m.14584T>C 14584 T C 10 0.001376273 1 0.000137627 7266 0.001513900 MT_14584_T/C homo&heter ENSG00000198695 synonymous_variant ttA/ttG rs1569484662 LOW SNV MT-ND6 protein_coding - - - 6125 m.14587A>C 14587 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14587_A/C homo ENSG00000198695 synonymous_variant ggT/ggG - LOW SNV MT-ND6 protein_coding - - - 6126 m.14587A>G 14587 A G 71 0.009771539 0 0.000000000 7266 0.009771539 MT_14587_A/G homo ENSG00000198695 synonymous_variant ggT/ggC rs1556424469 LOW SNV MT-ND6 protein_coding - - - 6127 m.14590C>T 14590 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_14590_C/T homo ENSG00000198695 synonymous_variant ggG/ggA - LOW SNV MT-ND6 protein_coding - - - 6128 m.14596A>G 14596 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_14596_A/G homo ENSG00000198695 synonymous_variant atT/atC - LOW SNV MT-ND6 protein_coding - - - 6129 m.14598T>C 14598 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14598_T/C heter ENSG00000198695 missense_variant Att/Gtt rs1057518882,COSV62378546 MODERATE SNV MT-ND6 protein_coding tolerated(0.29) probably_damaging(0.994) likely_benign,likely_pathogenic 6130 m.14599A>G 14599 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_14599_A/G homo ENSG00000198695 synonymous_variant ccT/ccC rs1556424470 LOW SNV MT-ND6 protein_coding - - - 6131 m.14601G>A 14601 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14601_G/A heter ENSG00000198695 missense_variant Cct/Tct COSV62377705 MODERATE SNV MT-ND6 protein_coding deleterious(0) probably_damaging(1) - 6132 m.14605A>C 14605 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14605_A/C heter ENSG00000198695 synonymous_variant ccT/ccG - LOW SNV MT-ND6 protein_coding - - - 6133 m.14605A>G 14605 A G 25 0.003440683 1 0.000137627 7266 0.003578310 MT_14605_A/G homo&heter ENSG00000198695 synonymous_variant ccT/ccC rs386829222 LOW SNV MT-ND6 protein_coding - - - 6134 m.14612G>A 14612 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14612_G/A heter ENSG00000198695 missense_variant tCt/tTt - MODERATE SNV MT-ND6 protein_coding deleterious(0) probably_damaging(1) - 6135 m.14617A>G 14617 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_14617_A/G homo ENSG00000198695 synonymous_variant ttT/ttC - LOW SNV MT-ND6 protein_coding - - - 6136 m.14620C>T 14620 C T 30 0.004128819 0 0.000000000 7266 0.004128819 MT_14620_C/T homo ENSG00000198695 synonymous_variant ggG/ggA rs879141731,COSV62378466 LOW SNV MT-ND6 protein_coding - - - 6137 m.14623C>A 14623 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14623_C/A homo ENSG00000198695 synonymous_variant gtG/gtT - LOW SNV MT-ND6 protein_coding - - - 6138 m.14623C>T 14623 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14623_C/T homo ENSG00000198695 synonymous_variant gtG/gtA - LOW SNV MT-ND6 protein_coding - - - 6139 m.14626A>G 14626 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14626_A/G homo ENSG00000198695 synonymous_variant ttT/ttC - LOW SNV MT-ND6 protein_coding - - - 6140 m.14629C>T 14629 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14629_C/T homo ENSG00000198695 synonymous_variant ggG/ggA - LOW SNV MT-ND6 protein_coding - - - 6141 m.14632C>T 14632 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_14632_C/T homo ENSG00000198695 synonymous_variant atG/atA rs879159198 LOW SNV MT-ND6 protein_coding - - - 6142 m.14634T>C 14634 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_14634_T/C homo&heter ENSG00000198695 missense_variant Atg/Gtg - MODERATE SNV MT-ND6 protein_coding tolerated(0.78) benign(0.003) - 6143 m.14635T>C 14635 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_14635_T/C homo&heter ENSG00000198695 synonymous_variant gtA/gtG - LOW SNV MT-ND6 protein_coding - - - 6144 m.14637C>CT 14637 C CT 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14638_-/T heter ENSG00000198695 frameshift_variant -/A - HIGH insertion MT-ND6 protein_coding - - - 6145 m.14638T>C 14638 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14638_T/C heter ENSG00000198695 synonymous_variant ttA/ttG - LOW SNV MT-ND6 protein_coding - - - 6146 m.14641A>G 14641 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14641_A/G heter ENSG00000198695 synonymous_variant ggT/ggC - LOW SNV MT-ND6 protein_coding - - - 6147 m.14650C>T 14650 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14650_C/T homo ENSG00000198695 synonymous_variant ttG/ttA - LOW SNV MT-ND6 protein_coding - - - 6148 m.14651A>G 14651 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14651_A/G heter ENSG00000198695 missense_variant tTg/tCg - MODERATE SNV MT-ND6 protein_coding deleterious(0.01) probably_damaging(0.98) - 6149 m.14659C>T 14659 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_14659_C/T homo ENSG00000198695 synonymous_variant ttG/ttA - LOW SNV MT-ND6 protein_coding - - - 6150 m.14664C>T 14664 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14664_C/T homo ENSG00000198695 missense_variant Gct/Act rs386829223 MODERATE SNV MT-ND6 protein_coding tolerated(0.2) benign(0.006) - 6151 m.14666T>C 14666 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14666_T/C heter ENSG00000198695 missense_variant tAt/tGt - MODERATE SNV MT-ND6 protein_coding deleterious(0) probably_damaging(1) - 6152 m.14668C>T 14668 C T 860 0.118359483 0 0.000000000 7266 0.118359483 MT_14668_C/T homo ENSG00000198695 synonymous_variant atG/atA rs28357678 LOW SNV MT-ND6 protein_coding - - - 6153 m.14669A>G 14669 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14669_A/G homo ENSG00000198695 missense_variant aTg/aCg rs1556424477 MODERATE SNV MT-ND6 protein_coding tolerated(0.95) benign(0) - 6154 m.14671CATT>C 14671 CATT C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14672_ATT/- heter ENSG00000210194 non_coding_transcript_exon_variant - - MODIFIER deletion MT-TE Mt_tRNA - - - 6155 m.14674T>C 14674 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14674_T/C homo ENSG00000210194 non_coding_transcript_exon_variant - rs387906421 MODIFIER SNV MT-TE Mt_tRNA - - likely_pathogenic,pathogenic 6156 m.14683A>G 14683 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_14683_A/G homo ENSG00000210194 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TE Mt_tRNA - - - 6157 m.14687A>G 14687 A G 29 0.003991192 0 0.000000000 7266 0.003991192 MT_14687_A/G homo ENSG00000210194 non_coding_transcript_exon_variant - rs200189658 MODIFIER SNV MT-TE Mt_tRNA - - - 6158 m.14690A>G 14690 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14690_A/G homo ENSG00000210194 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TE Mt_tRNA - - - 6159 m.14691C>T 14691 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_14691_C/T homo&heter ENSG00000210194 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TE Mt_tRNA - - - 6160 m.14692A>G 14692 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_14692_A/G homo ENSG00000210194 non_coding_transcript_exon_variant - rs879192165 MODIFIER SNV MT-TE Mt_tRNA - - pathogenic 6161 m.14693A>AT 14693 A AT 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14694_-/T homo ENSG00000210194 non_coding_transcript_exon_variant - - MODIFIER insertion MT-TE Mt_tRNA - - - 6162 m.14693A>G 14693 A G 65 0.008945775 1 0.000137627 7266 0.009083402 MT_14693_A/G homo&heter ENSG00000210194 non_coding_transcript_exon_variant - rs386829226 MODIFIER SNV MT-TE Mt_tRNA - - - 6163 m.14696A>G 14696 A G 20 0.002752546 0 0.000000000 7266 0.002752546 MT_14696_A/G homo ENSG00000210194 non_coding_transcript_exon_variant - rs1556424481 MODIFIER SNV MT-TE Mt_tRNA - - - 6164 m.14697C>T 14697 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14697_C/T homo ENSG00000210194 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TE Mt_tRNA - - - 6165 m.14706A>G 14706 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_14706_A/G homo ENSG00000210194 non_coding_transcript_exon_variant - rs1057516070 MODIFIER SNV MT-TE Mt_tRNA - - uncertain_significance,benign,not_provided 6166 m.14710G>A 14710 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_14710_G/A heter ENSG00000210194 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TE Mt_tRNA - - - 6167 m.14721G>A 14721 G A 0 0.000000000 3 0.000412882 7266 0.000412882 MT_14721_G/A heter ENSG00000210194 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TE Mt_tRNA - - - 6168 m.14726A>G 14726 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14726_A/G homo ENSG00000210194 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TE Mt_tRNA - - - 6169 m.14727T>C 14727 T C 17 0.002339664 0 0.000000000 7266 0.002339664 MT_14727_T/C homo ENSG00000210194 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TE Mt_tRNA - - - 6170 m.14743A>G 14743 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14743_A/G homo - intergenic_variant - rs527236161 MODIFIER SNV - - - - likely_pathogenic 6171 m.14744C>T 14744 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14744_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 6172 m.14745C>A 14745 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14745_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 6173 m.14745C>T 14745 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14745_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 6174 m.14749G>A 14749 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14749_G/A heter ENSG00000198727 synonymous_variant atG/atA - LOW SNV MT-CYB protein_coding - - - 6175 m.14750A>G 14750 A G 9 0.001238646 3 0.000412882 7266 0.001651528 MT_14750_A/G homo&heter ENSG00000198727 missense_variant Acc/Gcc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.26) benign(0) - 6176 m.14750A>T 14750 A T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_14750_A/T homo ENSG00000198727 missense_variant Acc/Tcc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.022) - 6177 m.14751C>T 14751 C T 24 0.003303055 1 0.000137627 7266 0.003440683 MT_14751_C/T homo&heter ENSG00000198727 missense_variant aCc/aTc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.05) benign(0.17) - 6178 m.14753C>T 14753 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14753_C/T homo ENSG00000198727 missense_variant Cca/Tca rs527236162 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.32) benign(0.015) likely_pathogenic 6179 m.14755A>C 14755 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14755_A/C homo ENSG00000198727 synonymous_variant ccA/ccC - LOW SNV MT-CYB protein_coding - - - 6180 m.14755A>G 14755 A G 14 0.001926782 0 0.000000000 7266 0.001926782 MT_14755_A/G homo ENSG00000198727 synonymous_variant ccA/ccG - LOW SNV MT-CYB protein_coding - - - 6181 m.14755A>T 14755 A T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_14755_A/T homo ENSG00000198727 synonymous_variant ccA/ccT - LOW SNV MT-CYB protein_coding - - - 6182 m.14757T>C 14757 T C 8 0.001101018 1 0.000137627 7266 0.001238646 MT_14757_T/C homo&heter ENSG00000198727 missense_variant aTa/aCa - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.16) benign(0) - 6183 m.14760G>A 14760 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14760_G/A heter ENSG00000198727 missense_variant cGc/cAc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.985) - 6184 m.14764A>G 14764 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14764_A/G homo ENSG00000198727 synonymous_variant aaA/aaG - LOW SNV MT-CYB protein_coding - - - 6185 m.14766C>T 14766 C T 6859 0.943985687 0 0.000000000 7266 0.943985687 MT_14766_C/T homo ENSG00000198727 missense_variant aCt/aTt rs193302980 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.04) benign(0.003) likely_pathogenic,benign 6186 m.14767T>C 14767 T C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_14767_T/C homo ENSG00000198727 synonymous_variant acT/acC COSV62377684 LOW SNV MT-CYB protein_coding - - - 6187 m.14769A>G 14769 A G 155 0.021332232 3 0.000412882 7266 0.021745114 MT_14769_A/G homo&heter ENSG00000198727 missense_variant aAc/aGc rs28357679 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.983) - 6188 m.14770C>T 14770 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14770_C/T homo ENSG00000198727 synonymous_variant aaC/aaT rs1556424488 LOW SNV MT-CYB protein_coding - - - 6189 m.14773C>T 14773 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14773_C/T homo ENSG00000198727 synonymous_variant ccC/ccT - LOW SNV MT-CYB protein_coding - - - 6190 m.14776A>G 14776 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14776_A/G homo ENSG00000198727 synonymous_variant ctA/ctG - LOW SNV MT-CYB protein_coding - - - 6191 m.14778T>C 14778 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_14778_T/C homo&heter ENSG00000198727 missense_variant aTa/aCa - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.06) benign(0.042) - 6192 m.14783T>C 14783 T C 2850 0.392237820 0 0.000000000 7266 0.392237820 MT_14783_T/C homo ENSG00000198727 synonymous_variant Tta/Cta rs193302982 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6193 m.14788T>C 14788 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_14788_T/C homo&heter ENSG00000198727 synonymous_variant atT/atC - LOW SNV MT-CYB protein_coding - - - 6194 m.14790A>G 14790 A G 9 0.001238646 2 0.000275255 7266 0.001513900 MT_14790_A/G homo&heter ENSG00000198727 missense_variant aAc/aGc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.001) - 6195 m.14791C>T 14791 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_14791_C/T homo&heter ENSG00000198727 synonymous_variant aaC/aaT - LOW SNV MT-CYB protein_coding - - - 6196 m.14793A>G 14793 A G 57 0.007844756 0 0.000000000 7266 0.007844756 MT_14793_A/G homo ENSG00000198727 missense_variant cAc/cGc rs2853504 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.06) benign(0.003) - 6197 m.14794C>T 14794 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_14794_C/T homo ENSG00000198727 synonymous_variant caC/caT - LOW SNV MT-CYB protein_coding - - - 6198 m.14797A>C 14797 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14797_A/C homo ENSG00000198727 synonymous_variant tcA/tcC - LOW SNV MT-CYB protein_coding - - - 6199 m.14798T>C 14798 T C 92 0.012661712 4 0.000550509 7266 0.013212221 MT_14798_T/C homo&heter ENSG00000198727 missense_variant Ttc/Ctc rs28357681 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.44) benign(0) - 6200 m.14799T>C 14799 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14799_T/C heter ENSG00000198727 missense_variant tTc/tCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.105) - 6201 m.14800C>T 14800 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14800_C/T homo ENSG00000198727 synonymous_variant ttC/ttT rs527236164 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6202 m.14803C>T 14803 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14803_C/T homo ENSG00000198727 synonymous_variant atC/atT rs878940736 LOW SNV MT-CYB protein_coding - - - 6203 m.14804G>A 14804 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_14804_G/A heter ENSG00000198727 missense_variant Gac/Aac COSV62377970 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.983) - 6204 m.14808T>C 14808 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14808_T/C heter ENSG00000198727 missense_variant cTc/cCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 6205 m.14812C>T 14812 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14812_C/T homo ENSG00000198727 synonymous_variant ccC/ccT - LOW SNV MT-CYB protein_coding - - - 6206 m.14814C>T 14814 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14814_C/T homo ENSG00000198727 missense_variant aCc/aTc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.192) - 6207 m.14815C>T 14815 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_14815_C/T homo ENSG00000198727 synonymous_variant acC/acT - LOW SNV MT-CYB protein_coding - - - 6208 m.14818A>G 14818 A G 3 0.000412882 1 0.000137627 7266 0.000550509 MT_14818_A/G homo&heter ENSG00000198727 synonymous_variant ccA/ccG - LOW SNV MT-CYB protein_coding - - - 6209 m.14819T>C 14819 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14819_T/C homo ENSG00000198727 missense_variant Tcc/Ccc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.08) benign(0.007) - 6210 m.14821C>G 14821 C G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14821_C/G homo ENSG00000198727 synonymous_variant tcC/tcG - LOW SNV MT-CYB protein_coding - - - 6211 m.14826T>C 14826 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_14826_T/C homo&heter ENSG00000198727 missense_variant aTc/aCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.986) - 6212 m.14827C>T 14827 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14827_C/T homo ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6213 m.14831G>A 14831 G A 29 0.003991192 4 0.000550509 7266 0.004541701 MT_14831_G/A homo&heter ENSG00000198727 missense_variant Gca/Aca rs199795644 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.2) benign(0) pathogenic,benign 6214 m.14832C>T 14832 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14832_C/T homo ENSG00000198727 missense_variant gCa/gTa - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.16) benign(0.011) - 6215 m.14839A>G 14839 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_14839_A/G homo ENSG00000198727 synonymous_variant tgA/tgG - LOW SNV MT-CYB protein_coding - - - 6216 m.14840A>G 14840 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14840_A/G heter ENSG00000198727 missense_variant Aac/Gac - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.989) - 6217 m.14841A>G 14841 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_14841_A/G heter ENSG00000198727 missense_variant aAc/aGc rs1556424497 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.971) - 6218 m.14843T>C 14843 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14843_T/C heter ENSG00000198727 missense_variant Ttc/Ctc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.03) benign(0.001) - 6219 m.14845C>T 14845 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_14845_C/T homo ENSG00000198727 synonymous_variant ttC/ttT - LOW SNV MT-CYB protein_coding - - - 6220 m.14848C>T 14848 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14848_C/T homo ENSG00000198727 synonymous_variant ggC/ggT - LOW SNV MT-CYB protein_coding - - - 6221 m.14851A>C 14851 A C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14851_A/C heter ENSG00000198727 synonymous_variant tcA/tcC - LOW SNV MT-CYB protein_coding - - - 6222 m.14853T>C 14853 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14853_T/C heter ENSG00000198727 missense_variant cTc/cCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6223 m.14854C>T 14854 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14854_C/T homo ENSG00000198727 synonymous_variant ctC/ctT rs1057516071 LOW SNV MT-CYB protein_coding - - uncertain_significance 6224 m.14857T>A 14857 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14857_T/A homo ENSG00000198727 synonymous_variant ctT/ctA COSV62377851 LOW SNV MT-CYB protein_coding - - - 6225 m.14857T>C 14857 T C 19 0.002614919 0 0.000000000 7266 0.002614919 MT_14857_T/C homo ENSG00000198727 synonymous_variant ctT/ctC rs1556424500,COSV62377851 LOW SNV MT-CYB protein_coding - - - 6226 m.14860C>T 14860 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_14860_C/T homo ENSG00000198727 synonymous_variant ggC/ggT - LOW SNV MT-CYB protein_coding - - - 6227 m.14861G>A 14861 G A 47 0.006468483 2 0.000275255 7266 0.006743738 MT_14861_G/A homo&heter ENSG00000198727 missense_variant Gcc/Acc rs2853505 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.21) benign(0.009) - 6228 m.14862C>T 14862 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14862_C/T homo ENSG00000198727 missense_variant gCc/gTc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.47) benign(0.162) - 6229 m.14865G>A 14865 G A 0 0.000000000 3 0.000412882 7266 0.000412882 MT_14865_G/A heter ENSG00000198727 missense_variant tGc/tAc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 6230 m.14866C>T 14866 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14866_C/T homo ENSG00000198727 synonymous_variant tgC/tgT rs879000658 LOW SNV MT-CYB protein_coding - - - 6231 m.14867C>T 14867 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14867_C/T homo ENSG00000198727 synonymous_variant Ctg/Ttg - LOW SNV MT-CYB protein_coding - - - 6232 m.14869G>A 14869 G A 47 0.006468483 1 0.000137627 7266 0.006606111 MT_14869_G/A homo&heter ENSG00000198727 synonymous_variant ctG/ctA rs879218419 LOW SNV MT-CYB protein_coding - - - 6233 m.14870A>G 14870 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14870_A/G heter ENSG00000198727 missense_variant Atc/Gtc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.24) benign(0) - 6234 m.14872C>T 14872 C T 21 0.002890173 0 0.000000000 7266 0.002890173 MT_14872_C/T homo ENSG00000198727 synonymous_variant atC/atT rs878879194,COSV62377781 LOW SNV MT-CYB protein_coding - - - 6235 m.14875C>T 14875 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14875_C/T homo ENSG00000198727 synonymous_variant ctC/ctT - LOW SNV MT-CYB protein_coding - - - 6236 m.14878A>G 14878 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14878_A/G homo ENSG00000198727 synonymous_variant caA/caG - LOW SNV MT-CYB protein_coding - - - 6237 m.14879A>G 14879 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_14879_A/G homo&heter ENSG00000198727 missense_variant Atc/Gtc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.03) benign(0.01) - 6238 m.14881C>T 14881 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_14881_C/T homo ENSG00000198727 synonymous_variant atC/atT rs879146729 LOW SNV MT-CYB protein_coding - - - 6239 m.14883C>T 14883 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_14883_C/T homo ENSG00000198727 missense_variant aCc/aTc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.49) benign(0) - 6240 m.14884C>T 14884 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14884_C/T homo ENSG00000198727 synonymous_variant acC/acT - LOW SNV MT-CYB protein_coding - - - 6241 m.14890A>G 14890 A G 6 0.000825764 1 0.000137627 7266 0.000963391 MT_14890_A/G homo&heter ENSG00000198727 synonymous_variant ggA/ggG rs878908293 LOW SNV MT-CYB protein_coding - - - 6242 m.14893A>G 14893 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_14893_A/G homo ENSG00000198727 synonymous_variant ctA/ctG rs878992560,COSV62377858 LOW SNV MT-CYB protein_coding - - - 6243 m.14894T>C 14894 T C 7 0.000963391 1 0.000137627 7266 0.001101018 MT_14894_T/C homo&heter ENSG00000198727 missense_variant Ttc/Ctc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.03) probably_damaging(0.965) - 6244 m.14896C>T 14896 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_14896_C/T homo ENSG00000198727 synonymous_variant ttC/ttT - LOW SNV MT-CYB protein_coding - - - 6245 m.14899A>G 14899 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14899_A/G homo ENSG00000198727 synonymous_variant ctA/ctG - LOW SNV MT-CYB protein_coding - - - 6246 m.14902C>T 14902 C T 10 0.001376273 1 0.000137627 7266 0.001513900 MT_14902_C/T homo&heter ENSG00000198727 synonymous_variant gcC/gcT rs878991672 LOW SNV MT-CYB protein_coding - - - 6247 m.14903A>G 14903 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14903_A/G homo ENSG00000198727 missense_variant Atg/Gtg - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) possibly_damaging(0.79) - 6248 m.14905G>A 14905 G A 209 0.028764107 2 0.000275255 7266 0.029039361 MT_14905_G/A homo&heter ENSG00000198727 synonymous_variant atG/atA rs193302983 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6249 m.14911C>T 14911 C T 57 0.007844756 0 0.000000000 7266 0.007844756 MT_14911_C/T homo ENSG00000198727 synonymous_variant taC/taT rs28357683 LOW SNV MT-CYB protein_coding - - likely_benign 6250 m.14912T>C 14912 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_14912_T/C heter ENSG00000198727 missense_variant Tca/Cca - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.125) - 6251 m.14914A>G 14914 A G 14 0.001926782 0 0.000000000 7266 0.001926782 MT_14914_A/G homo ENSG00000198727 synonymous_variant tcA/tcG rs386829229 LOW SNV MT-CYB protein_coding - - - 6252 m.14914A>T 14914 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14914_A/T homo ENSG00000198727 synonymous_variant tcA/tcT - LOW SNV MT-CYB protein_coding - - - 6253 m.14915C>T 14915 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14915_C/T homo ENSG00000198727 missense_variant Cca/Tca - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(1) benign(0.015) - 6254 m.14920C>T 14920 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14920_C/T homo ENSG00000198727 synonymous_variant gaC/gaT - LOW SNV MT-CYB protein_coding - - - 6255 m.14921G>A 14921 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14921_G/A heter ENSG00000198727 missense_variant Gcc/Acc COSV62377838 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(1) probably_damaging(0.993) - 6256 m.14924T>C 14924 T C 5 0.000688137 2 0.000275255 7266 0.000963391 MT_14924_T/C homo&heter ENSG00000198727 missense_variant Tca/Cca - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.04) benign(0.204) - 6257 m.14926A>G 14926 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14926_A/G homo ENSG00000198727 synonymous_variant tcA/tcG - LOW SNV MT-CYB protein_coding - - - 6258 m.14927A>G 14927 A G 57 0.007844756 0 0.000000000 7266 0.007844756 MT_14927_A/G homo ENSG00000198727 missense_variant Acc/Gcc rs201551481 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) benign(0) - 6259 m.14929C>T 14929 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14929_C/T homo ENSG00000198727 synonymous_variant acC/acT - LOW SNV MT-CYB protein_coding - - - 6260 m.14935T>C 14935 T C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_14935_T/C homo ENSG00000198727 synonymous_variant ttT/ttC rs527236204 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6261 m.14943T>C 14943 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14943_T/C heter ENSG00000198727 missense_variant aTc/aCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) benign(0.068) - 6262 m.14944C>T 14944 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_14944_C/T homo ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6263 m.14945G>A 14945 G A 5 0.000688137 1 0.000137627 7266 0.000825764 MT_14945_G/A homo&heter ENSG00000198727 missense_variant Gcc/Acc COSV62377951 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.87) probably_damaging(0.994) - 6264 m.14950C>T 14950 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_14950_C/T homo ENSG00000198727 synonymous_variant caC/caT rs527236166 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6265 m.14953C>CT 14953 C CT 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14954_-/T heter ENSG00000198727 frameshift_variant -/T - HIGH insertion MT-CYB protein_coding - - - 6266 m.14953C>G 14953 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14953_C/G homo ENSG00000198727 missense_variant atC/atG - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.992) - 6267 m.14953C>T 14953 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_14953_C/T homo ENSG00000198727 synonymous_variant atC/atT rs879117423 LOW SNV MT-CYB protein_coding - - - 6268 m.14954A>G 14954 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14954_A/G homo ENSG00000198727 missense_variant Act/Gct - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.983) - 6269 m.14956T>C 14956 T C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_14956_T/C homo ENSG00000198727 synonymous_variant acT/acC rs1556424507 LOW SNV MT-CYB protein_coding - - - 6270 m.14957C>T 14957 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14957_C/T heter ENSG00000198727 missense_variant Cga/Tga - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 6271 m.14958G>A 14958 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14958_G/A heter ENSG00000198727 missense_variant cGa/cAa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.978) - 6272 m.14959A>G 14959 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14959_A/G homo ENSG00000198727 synonymous_variant cgA/cgG - LOW SNV MT-CYB protein_coding - - - 6273 m.14960G>A 14960 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14960_G/A heter ENSG00000198727 missense_variant Gac/Aac COSV62377720 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.996) - 6274 m.14962C>T 14962 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14962_C/T homo ENSG00000198727 synonymous_variant gaC/gaT - LOW SNV MT-CYB protein_coding - - - 6275 m.14965A>G 14965 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_14965_A/G homo ENSG00000198727 synonymous_variant gtA/gtG - LOW SNV MT-CYB protein_coding - - - 6276 m.14968T>A 14968 T A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_14968_T/A heter ENSG00000198727 missense_variant aaT/aaA COSV62378514 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.989) - 6277 m.14968T>C 14968 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_14968_T/C homo ENSG00000198727 synonymous_variant aaT/aaC rs527236167,COSV62378514 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6278 m.14969T>C 14969 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14969_T/C homo ENSG00000198727 missense_variant Tat/Cat rs1569484685 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.05) probably_damaging(0.995) uncertain_significance 6279 m.14971T>C 14971 T C 48 0.006606111 0 0.000000000 7266 0.006606111 MT_14971_T/C homo ENSG00000198727 synonymous_variant taT/taC - LOW SNV MT-CYB protein_coding - - - 6280 m.14972G>A 14972 G A 0 0.000000000 3 0.000412882 7266 0.000412882 MT_14972_G/A heter ENSG00000198727 missense_variant Ggc/Agc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6281 m.14974C>T 14974 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14974_C/T homo ENSG00000198727 synonymous_variant ggC/ggT rs527236168 LOW SNV MT-CYB protein_coding - - - 6282 m.14977A>G 14977 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14977_A/G homo ENSG00000198727 synonymous_variant tgA/tgG - LOW SNV MT-CYB protein_coding - - - 6283 m.14978A>G 14978 A G 77 0.010597303 1 0.000137627 7266 0.010734930 MT_14978_A/G homo&heter ENSG00000198727 missense_variant Atc/Gtc rs199997767 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.09) benign(0) - 6284 m.14979T>C 14979 T C 154 0.021194605 1 0.000137627 7266 0.021332232 MT_14979_T/C homo&heter ENSG00000198727 missense_variant aTc/aCc rs200786872 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.06) possibly_damaging(0.673) - 6285 m.14980C>A 14980 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14980_C/A homo ENSG00000198727 missense_variant atC/atA - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.12) benign(0.027) - 6286 m.14981A>G 14981 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14981_A/G homo ENSG00000198727 missense_variant Atc/Gtc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) benign(0) - 6287 m.14983C>T 14983 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14983_C/T homo ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6288 m.14985G>A 14985 G A 0 0.000000000 3 0.000412882 7266 0.000412882 MT_14985_G/A heter ENSG00000198727 missense_variant cGc/cAc rs207459995 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.993) uncertain_significance,pathogenic 6289 m.14988A>G 14988 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_14988_A/G homo ENSG00000198727 missense_variant tAc/tGc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.02) probably_damaging(0.938) - 6290 m.14989C>T 14989 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_14989_C/T homo ENSG00000198727 synonymous_variant taC/taT rs373470520 LOW SNV MT-CYB protein_coding - - - 6291 m.14990C>T 14990 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_14990_C/T homo ENSG00000198727 missense_variant Ctt/Ttt - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.995) - 6292 m.14992T>C 14992 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14992_T/C homo ENSG00000198727 synonymous_variant ctT/ctC - LOW SNV MT-CYB protein_coding - - - 6293 m.14996G>A 14996 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_14996_G/A homo ENSG00000198727 missense_variant Gcc/Acc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) benign(0.003) - 6294 m.15001T>C 15001 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_15001_T/C homo ENSG00000198727 synonymous_variant aaT/aaC rs527236169 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6295 m.15004C>T 15004 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15004_C/T homo ENSG00000198727 synonymous_variant ggC/ggT - LOW SNV MT-CYB protein_coding - - - 6296 m.15007C>T 15007 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15007_C/T homo ENSG00000198727 synonymous_variant gcC/gcT rs879113703 LOW SNV MT-CYB protein_coding - - - 6297 m.15010A>G 15010 A G 21 0.002890173 0 0.000000000 7266 0.002890173 MT_15010_A/G homo ENSG00000198727 synonymous_variant tcA/tcG - LOW SNV MT-CYB protein_coding - - - 6298 m.15013A>G 15013 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15013_A/G homo ENSG00000198727 synonymous_variant atA/atG - LOW SNV MT-CYB protein_coding - - - 6299 m.15014T>C 15014 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15014_T/C heter ENSG00000198727 missense_variant Ttc/Ctc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.03) benign(0.014) - 6300 m.15015T>C 15015 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15015_T/C heter ENSG00000198727 missense_variant tTc/tCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) possibly_damaging(0.898) - 6301 m.15016C>T 15016 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_15016_C/T homo ENSG00000198727 synonymous_variant ttC/ttT - LOW SNV MT-CYB protein_coding - - - 6302 m.15019T>C 15019 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15019_T/C homo ENSG00000198727 synonymous_variant ttT/ttC - LOW SNV MT-CYB protein_coding - - - 6303 m.15022C>T 15022 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_15022_C/T homo ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6304 m.15024G>A 15024 G A 24 0.003303055 1 0.000137627 7266 0.003440683 MT_15024_G/A homo&heter ENSG00000198727 missense_variant tGc/tAc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(1) - 6305 m.15025C>T 15025 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15025_C/T homo ENSG00000198727 synonymous_variant tgC/tgT - LOW SNV MT-CYB protein_coding - - - 6306 m.15028C>A 15028 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15028_C/A homo ENSG00000198727 synonymous_variant ctC/ctA rs1556424519 LOW SNV MT-CYB protein_coding - - - 6307 m.15031C>T 15031 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15031_C/T homo ENSG00000198727 synonymous_variant ttC/ttT rs1556424522 LOW SNV MT-CYB protein_coding - - - 6308 m.15038A>G 15038 A G 35 0.004816956 0 0.000000000 7266 0.004816956 MT_15038_A/G homo ENSG00000198727 missense_variant Atc/Gtc rs202045169 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.94) possibly_damaging(0.763) - 6309 m.15038A>T 15038 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15038_A/T heter ENSG00000198727 missense_variant Atc/Ttc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.982) - 6310 m.15039T>C 15039 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_15039_T/C heter ENSG00000198727 missense_variant aTc/aCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.04) probably_damaging(0.992) - 6311 m.15040C>A 15040 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15040_C/A homo ENSG00000198727 missense_variant atC/atA - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.07) probably_damaging(0.992) - 6312 m.15040C>T 15040 C T 68 0.009358657 0 0.000000000 7266 0.009358657 MT_15040_C/T homo ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6313 m.15042G>A 15042 G A 0 0.000000000 3 0.000412882 7266 0.000412882 MT_15042_G/A heter ENSG00000198727 missense_variant gGg/gAg - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(1) - 6314 m.15043G>A 15043 G A 2876 0.395816130 1 0.000137627 7266 0.395953757 MT_15043_G/A homo&heter ENSG00000198727 synonymous_variant ggG/ggA rs193302985 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6315 m.15045G>A 15045 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_15045_G/A heter ENSG00000198727 missense_variant cGa/cAa COSV62377662 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.997) - 6316 m.15046A>G 15046 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15046_A/G homo ENSG00000198727 synonymous_variant cgA/cgG - LOW SNV MT-CYB protein_coding - - - 6317 m.15047G>A 15047 G A 15 0.002064410 1 0.000137627 7266 0.002202037 MT_15047_G/A homo&heter ENSG00000198727 missense_variant Ggc/Agc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) benign(0.37) - 6318 m.15048G>A 15048 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15048_G/A heter ENSG00000198727 missense_variant gGc/gAc COSV62378113 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.992) - 6319 m.15049C>T 15049 C T 29 0.003991192 0 0.000000000 7266 0.003991192 MT_15049_C/T homo ENSG00000198727 synonymous_variant ggC/ggT rs527236170 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6320 m.15050C>T 15050 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15050_C/T homo ENSG00000198727 synonymous_variant Cta/Tta - LOW SNV MT-CYB protein_coding - - - 6321 m.15052A>G 15052 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15052_A/G homo ENSG00000198727 synonymous_variant ctA/ctG - LOW SNV MT-CYB protein_coding - - - 6322 m.15053T>C 15053 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15053_T/C heter ENSG00000198727 missense_variant Tat/Cat - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(1) - 6323 m.15055T>C 15055 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_15055_T/C homo ENSG00000198727 synonymous_variant taT/taC - LOW SNV MT-CYB protein_coding - - - 6324 m.15059G>A 15059 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_15059_G/A heter ENSG00000198727 stop_gained Gga/Aga - HIGH SNV MT-CYB protein_coding - - - 6325 m.15060G>A 15060 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15060_G/A heter ENSG00000198727 missense_variant gGa/gAa rs1057516072 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(1) likely_pathogenic,uncertain_significance 6326 m.15061A>G 15061 A G 15 0.002064410 1 0.000137627 7266 0.002202037 MT_15061_A/G homo&heter ENSG00000198727 synonymous_variant ggA/ggG rs527236205,COSV62378179 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6327 m.15062T>C 15062 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_15062_T/C heter ENSG00000198727 missense_variant Tca/Cca - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 6328 m.15065T>C 15065 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15065_T/C heter ENSG00000198727 missense_variant Ttt/Ctt - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.992) - 6329 m.15066T>A 15066 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15066_T/A homo ENSG00000198727 missense_variant tTt/tAt - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(1) probably_damaging(0.992) - 6330 m.15067T>C 15067 T C 25 0.003440683 0 0.000000000 7266 0.003440683 MT_15067_T/C homo ENSG00000198727 synonymous_variant ttT/ttC rs386829233 LOW SNV MT-CYB protein_coding - - - 6331 m.15070C>A 15070 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15070_C/A homo ENSG00000198727 synonymous_variant ctC/ctA - LOW SNV MT-CYB protein_coding - - - 6332 m.15071T>C 15071 T C 74 0.010184421 1 0.000137627 7266 0.010322048 MT_15071_T/C homo&heter ENSG00000198727 missense_variant Tac/Cac rs199999794 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.02) benign(0.025) likely_benign,benign 6333 m.15074T>C 15074 T C 4 0.000550509 1 0.000137627 7266 0.000688137 MT_15074_T/C homo&heter ENSG00000198727 missense_variant Tca/Cca rs201169089 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.23) benign(0.003) - 6334 m.15076A>G 15076 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15076_A/G homo ENSG00000198727 synonymous_variant tcA/tcG - LOW SNV MT-CYB protein_coding - - - 6335 m.15077G>A 15077 G A 17 0.002339664 0 0.000000000 7266 0.002339664 MT_15077_G/A homo ENSG00000198727 missense_variant Gaa/Aaa rs201943501,COSV62378381 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.08) probably_damaging(0.993) - 6336 m.15080A>G 15080 A G 11 0.001513900 2 0.000275255 7266 0.001789155 MT_15080_A/G homo&heter ENSG00000198727 missense_variant Acc/Gcc rs386829235 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.993) - 6337 m.15085A>G 15085 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15085_A/G homo ENSG00000198727 synonymous_variant tgA/tgG - LOW SNV MT-CYB protein_coding - - - 6338 m.15087A>G 15087 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15087_A/G heter ENSG00000198727 missense_variant aAc/aGc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.972) - 6339 m.15087A>T 15087 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15087_A/T heter ENSG00000198727 missense_variant aAc/aTc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6340 m.15088C>T 15088 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15088_C/T homo ENSG00000198727 synonymous_variant aaC/aaT rs1556424530 LOW SNV MT-CYB protein_coding - - - 6341 m.15090T>C 15090 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_15090_T/C homo ENSG00000198727 missense_variant aTc/aCc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.14) possibly_damaging(0.572) - 6342 m.15091C>T 15091 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15091_C/T homo ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6343 m.15094C>T 15094 C T 20 0.002752546 0 0.000000000 7266 0.002752546 MT_15094_C/T homo ENSG00000198727 synonymous_variant ggC/ggT rs386829236 LOW SNV MT-CYB protein_coding - - - 6344 m.15095A>G 15095 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15095_A/G homo ENSG00000198727 missense_variant Att/Gtt - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(1) benign(0.009) - 6345 m.15097T>C 15097 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_15097_T/C homo ENSG00000198727 synonymous_variant atT/atC rs1556424531 LOW SNV MT-CYB protein_coding - - - 6346 m.15098A>C 15098 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15098_A/C homo ENSG00000198727 missense_variant Atc/Ctc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.27) benign(0.009) - 6347 m.15098A>G 15098 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15098_A/G homo ENSG00000198727 missense_variant Atc/Gtc rs527236172 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.27) benign(0) likely_benign,likely_pathogenic 6348 m.15099T>C 15099 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15099_T/C homo ENSG00000198727 missense_variant aTc/aCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.03) benign(0.207) - 6349 m.15103C>G 15103 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15103_C/G homo ENSG00000198727 synonymous_variant ctC/ctG - LOW SNV MT-CYB protein_coding - - - 6350 m.15103C>T 15103 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_15103_C/T homo ENSG00000198727 synonymous_variant ctC/ctT - LOW SNV MT-CYB protein_coding - - - 6351 m.15106G>A 15106 G A 35 0.004816956 0 0.000000000 7266 0.004816956 MT_15106_G/A homo ENSG00000198727 synonymous_variant ctG/ctA - LOW SNV MT-CYB protein_coding - - - 6352 m.15109T>C 15109 T C 12 0.001651528 1 0.000137627 7266 0.001789155 MT_15109_T/C homo&heter ENSG00000198727 synonymous_variant ctT/ctC - LOW SNV MT-CYB protein_coding - - - 6353 m.15110G>A 15110 G A 144 0.019818332 1 0.000137627 7266 0.019955959 MT_15110_G/A homo&heter ENSG00000198727 missense_variant Gca/Aca rs28357685,COSV62378311 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.69) benign(0.009) - 6354 m.15113A>G 15113 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_15113_A/G homo ENSG00000198727 missense_variant Act/Gct - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.996) - 6355 m.15115T>C 15115 T C 143 0.019680705 0 0.000000000 7266 0.019680705 MT_15115_T/C homo ENSG00000198727 synonymous_variant acT/acC rs879035822 LOW SNV MT-CYB protein_coding - - - 6356 m.15118A>G 15118 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15118_A/G homo ENSG00000198727 synonymous_variant atA/atG - LOW SNV MT-CYB protein_coding - - - 6357 m.15119G>A 15119 G A 9 0.001238646 0 0.000000000 7266 0.001238646 MT_15119_G/A homo ENSG00000198727 missense_variant Gca/Aca rs201194402 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.02) benign(0.006) - 6358 m.15122A>G 15122 A G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_15122_A/G homo ENSG00000198727 missense_variant Aca/Gca rs1556424535 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.987) - 6359 m.15127C>T 15127 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15127_C/T homo ENSG00000198727 synonymous_variant gcC/gcT rs1057516074 LOW SNV MT-CYB protein_coding - - uncertain_significance 6360 m.15130C>A 15130 C A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15130_C/A heter ENSG00000198727 missense_variant ttC/ttA - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.003) - 6361 m.15130C>T 15130 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15130_C/T homo ENSG00000198727 synonymous_variant ttC/ttT - LOW SNV MT-CYB protein_coding - - - 6362 m.15131A>C 15131 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15131_A/C homo ENSG00000198727 missense_variant Ata/Cta - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.04) possibly_damaging(0.894) - 6363 m.15131A>G 15131 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15131_A/G homo ENSG00000198727 missense_variant Ata/Gta - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.52) possibly_damaging(0.894) - 6364 m.15132T>C 15132 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15132_T/C heter ENSG00000198727 missense_variant aTa/aCa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.987) - 6365 m.15133A>G 15133 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_15133_A/G homo ENSG00000198727 synonymous_variant atA/atG - LOW SNV MT-CYB protein_coding - - - 6366 m.15136C>T 15136 C T 54 0.007431874 0 0.000000000 7266 0.007431874 MT_15136_C/T homo ENSG00000198727 synonymous_variant ggC/ggT rs2854124 LOW SNV MT-CYB protein_coding - - - 6367 m.15139T>C 15139 T C 7 0.000963391 1 0.000137627 7266 0.001101018 MT_15139_T/C homo&heter ENSG00000198727 synonymous_variant taT/taC - LOW SNV MT-CYB protein_coding - - - 6368 m.15140G>A 15140 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15140_G/A homo ENSG00000198727 missense_variant Gtc/Atc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.02) probably_damaging(0.981) - 6369 m.15141T>C 15141 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15141_T/C heter ENSG00000198727 missense_variant gTc/gCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 6370 m.15142C>T 15142 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_15142_C/T homo ENSG00000198727 synonymous_variant gtC/gtT - LOW SNV MT-CYB protein_coding - - - 6371 m.15145C>T 15145 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15145_C/T homo ENSG00000198727 synonymous_variant ctC/ctT - LOW SNV MT-CYB protein_coding - - - 6372 m.15148G>A 15148 G A 41 0.005642720 0 0.000000000 7266 0.005642720 MT_15148_G/A homo ENSG00000198727 synonymous_variant ccG/ccA rs527236206 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6373 m.15149T>C 15149 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15149_T/C heter ENSG00000198727 missense_variant Tga/Cga - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(1) - 6374 m.15151A>G 15151 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15151_A/G homo ENSG00000198727 synonymous_variant tgA/tgG - LOW SNV MT-CYB protein_coding - - - 6375 m.15152G>A 15152 G A 2 0.000275255 2 0.000275255 7266 0.000550509 MT_15152_G/A homo&heter ENSG00000198727 missense_variant Ggc/Agc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(1) - 6376 m.15153G>A 15153 G A 1 0.000137627 3 0.000412882 7266 0.000550509 MT_15153_G/A homo&heter ENSG00000198727 missense_variant gGc/gAc rs1556424536 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(1) - 6377 m.15154C>A 15154 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15154_C/A homo ENSG00000198727 synonymous_variant ggC/ggA - LOW SNV MT-CYB protein_coding - - - 6378 m.15154C>T 15154 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15154_C/T homo ENSG00000198727 synonymous_variant ggC/ggT rs1556424538 LOW SNV MT-CYB protein_coding - - - 6379 m.15160A>G 15160 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15160_A/G homo ENSG00000198727 synonymous_variant atA/atG - LOW SNV MT-CYB protein_coding - - - 6380 m.15164T>C 15164 T C 2 0.000275255 2 0.000275255 7266 0.000550509 MT_15164_T/C homo&heter ENSG00000198727 missense_variant Ttc/Ctc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.014) - 6381 m.15165T>C 15165 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15165_T/C heter ENSG00000198727 missense_variant tTc/tCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.986) - 6382 m.15170G>A 15170 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15170_G/A heter ENSG00000198727 stop_gained Ggg/Agg - HIGH SNV MT-CYB protein_coding - - - 6383 m.15172G>A 15172 G A 32 0.004404074 0 0.000000000 7266 0.004404074 MT_15172_G/A homo ENSG00000198727 synonymous_variant ggG/ggA rs367572771 LOW SNV MT-CYB protein_coding - - - 6384 m.15173G>A 15173 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15173_G/A heter ENSG00000198727 missense_variant Gcc/Acc rs878866549 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6385 m.15175C>T 15175 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_15175_C/T homo ENSG00000198727 synonymous_variant gcC/gcT rs1569484693 LOW SNV MT-CYB protein_coding - - - 6386 m.15178A>G 15178 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15178_A/G homo ENSG00000198727 synonymous_variant acA/acG rs1556424543 LOW SNV MT-CYB protein_coding - - - 6387 m.15183T>C 15183 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15183_T/C heter ENSG00000198727 missense_variant aTt/aCt - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.992) - 6388 m.15184T>C 15184 T C 16 0.002202037 0 0.000000000 7266 0.002202037 MT_15184_T/C homo ENSG00000198727 synonymous_variant atT/atC rs879103897 LOW SNV MT-CYB protein_coding - - - 6389 m.15187A>G 15187 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15187_A/G homo ENSG00000198727 synonymous_variant acA/acG - LOW SNV MT-CYB protein_coding - - - 6390 m.15190C>T 15190 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15190_C/T homo ENSG00000198727 synonymous_variant aaC/aaT - LOW SNV MT-CYB protein_coding - - - 6391 m.15191T>C 15191 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_15191_T/C homo ENSG00000198727 synonymous_variant Tta/Cta rs878912989,COSV62377814 LOW SNV MT-CYB protein_coding - - likely_benign 6392 m.15194C>T 15194 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15194_C/T homo ENSG00000198727 synonymous_variant Cta/Tta - LOW SNV MT-CYB protein_coding - - - 6393 m.15198C>T 15198 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15198_C/T heter ENSG00000198727 missense_variant tCc/tTc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6394 m.15199C>T 15199 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15199_C/T homo ENSG00000198727 synonymous_variant tcC/tcT - LOW SNV MT-CYB protein_coding - - - 6395 m.15200G>A 15200 G A 0 0.000000000 3 0.000412882 7266 0.000412882 MT_15200_G/A heter ENSG00000198727 missense_variant Gcc/Acc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.997) - 6396 m.15201C>T 15201 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15201_C/T heter ENSG00000198727 missense_variant gCc/gTc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 6397 m.15203A>G 15203 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15203_A/G homo ENSG00000198727 missense_variant Atc/Gtc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.22) benign(0) - 6398 m.15204T>C 15204 T C 52 0.007156620 0 0.000000000 7266 0.007156620 MT_15204_T/C homo ENSG00000198727 missense_variant aTc/aCc rs28357687 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.03) benign(0.285) - 6399 m.15205C>T 15205 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15205_C/T homo ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6400 m.15206C>T 15206 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15206_C/T heter ENSG00000198727 missense_variant Cca/Tca - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.997) - 6401 m.15208A>G 15208 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15208_A/G homo&heter ENSG00000198727 synonymous_variant ccA/ccG - LOW SNV MT-CYB protein_coding - - - 6402 m.15209T>C 15209 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15209_T/C homo ENSG00000198727 missense_variant Tac/Cac - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6403 m.15211C>T 15211 C T 16 0.002202037 1 0.000137627 7266 0.002339664 MT_15211_C/T homo&heter ENSG00000198727 synonymous_variant taC/taT rs386829237 LOW SNV MT-CYB protein_coding - - - 6404 m.15213T>C 15213 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15213_T/C homo ENSG00000198727 missense_variant aTt/aCt - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.992) - 6405 m.15214T>C 15214 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15214_T/C homo ENSG00000198727 synonymous_variant atT/atC rs527236173 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6406 m.15216G>A 15216 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15216_G/A heter ENSG00000198727 missense_variant gGg/gAg COSV62377640 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(1) - 6407 m.15217G>A 15217 G A 149 0.020506468 2 0.000275255 7266 0.020781723 MT_15217_G/A homo&heter ENSG00000198727 synonymous_variant ggG/ggA rs193302989 LOW SNV MT-CYB protein_coding - - likely_benign 6408 m.15218A>G 15218 A G 105 0.014450867 2 0.000275255 7266 0.014726122 MT_15218_A/G homo&heter ENSG00000198727 missense_variant Aca/Gca rs2853506 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.07) probably_damaging(0.972) - 6409 m.15220A>G 15220 A G 5 0.000688137 1 0.000137627 7266 0.000825764 MT_15220_A/G homo&heter ENSG00000198727 synonymous_variant acA/acG - LOW SNV MT-CYB protein_coding - - - 6410 m.15221G>A 15221 G A 18 0.002477291 0 0.000000000 7266 0.002477291 MT_15221_G/A homo ENSG00000198727 missense_variant Gac/Aac - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.39) benign(0.033) - 6411 m.15223C>T 15223 C T 101 0.013900358 0 0.000000000 7266 0.013900358 MT_15223_C/T homo ENSG00000198727 synonymous_variant gaC/gaT rs3134742 LOW SNV MT-CYB protein_coding - - - 6412 m.15224C>T 15224 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15224_C/T homo ENSG00000198727 synonymous_variant Cta/Tta rs878954540 LOW SNV MT-CYB protein_coding - - - 6413 m.15226A>G 15226 A G 21 0.002890173 0 0.000000000 7266 0.002890173 MT_15226_A/G homo ENSG00000198727 synonymous_variant ctA/ctG rs527236174 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6414 m.15227G>A 15227 G A 2 0.000275255 1 0.000137627 7266 0.000412882 MT_15227_G/A homo&heter ENSG00000198727 missense_variant Gtt/Att rs1556424548 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.981) - 6415 m.15229T>C 15229 T C 26 0.003578310 0 0.000000000 7266 0.003578310 MT_15229_T/C homo ENSG00000198727 synonymous_variant gtT/gtC rs1569484699 LOW SNV MT-CYB protein_coding - - - 6416 m.15232A>G 15232 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_15232_A/G homo&heter ENSG00000198727 synonymous_variant caA/caG - LOW SNV MT-CYB protein_coding - - - 6417 m.15235A>G 15235 A G 127 0.017478668 0 0.000000000 7266 0.017478668 MT_15235_A/G homo ENSG00000198727 synonymous_variant tgA/tgG rs201250154 LOW SNV MT-CYB protein_coding - - benign 6418 m.15236A>G 15236 A G 61 0.008395266 0 0.000000000 7266 0.008395266 MT_15236_A/G homo ENSG00000198727 missense_variant Atc/Gtc rs386829239 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.12) benign(0) - 6419 m.15237T>C 15237 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15237_T/C homo&heter ENSG00000198727 missense_variant aTc/aCc rs879217377 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.207) - 6420 m.15238C>A 15238 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15238_C/A homo ENSG00000198727 missense_variant atC/atA - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.443) - 6421 m.15240G>A 15240 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15240_G/A heter ENSG00000198727 stop_gained tGa/tAa - HIGH SNV MT-CYB protein_coding - - - 6422 m.15241A>G 15241 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15241_A/G homo ENSG00000198727 synonymous_variant tgA/tgG - LOW SNV MT-CYB protein_coding - - - 6423 m.15244A>G 15244 A G 102 0.014037985 1 0.000137627 7266 0.014175612 MT_15244_A/G homo&heter ENSG00000198727 synonymous_variant ggA/ggG rs28357369 LOW SNV MT-CYB protein_coding - - - 6424 m.15245G>A 15245 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15245_G/A homo ENSG00000198727 missense_variant Ggc/Agc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(1) - 6425 m.15246G>A 15246 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15246_G/A heter ENSG00000198727 missense_variant gGc/gAc rs1057516075 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(1) uncertain_significance,likely_pathogenic 6426 m.15246G>C 15246 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15246_G/C homo ENSG00000198727 missense_variant gGc/gCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.999) - 6427 m.15249A>G 15249 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15249_A/G heter ENSG00000198727 missense_variant tAc/tGc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6428 m.15253A>G 15253 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15253_A/G homo ENSG00000198727 synonymous_variant tcA/tcG - LOW SNV MT-CYB protein_coding - - - 6429 m.15256A>G 15256 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15256_A/G homo ENSG00000198727 synonymous_variant gtA/gtG - LOW SNV MT-CYB protein_coding - - - 6430 m.15257G>A 15257 G A 18 0.002477291 1 0.000137627 7266 0.002614919 MT_15257_G/A homo&heter ENSG00000198727 missense_variant Gac/Aac rs41518645,COSV62378578 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) benign(0.007) benign,conflicting_interpretations_of_pathogenicity 6431 m.15258A>G 15258 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15258_A/G homo ENSG00000198727 missense_variant gAc/gGc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.03) benign(0.007) - 6432 m.15259C>T 15259 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_15259_C/T homo ENSG00000198727 synonymous_variant gaC/gaT rs527236207 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6433 m.15261G>A 15261 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15261_G/A homo&heter ENSG00000198727 missense_variant aGt/aAt rs1556424551 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.54) benign(0.006) - 6434 m.15262T>C 15262 T C 35 0.004816956 1 0.000137627 7266 0.004954583 MT_15262_T/C homo&heter ENSG00000198727 synonymous_variant agT/agC rs1057520097,COSV62378004 LOW SNV MT-CYB protein_coding - - likely_benign 6435 m.15263C>T 15263 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15263_C/T homo ENSG00000198727 missense_variant Ccc/Tcc rs200455825 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) benign(0.205) - 6436 m.15264C>T 15264 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15264_C/T heter ENSG00000198727 missense_variant cCc/cTc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.393) - 6437 m.15265C>T 15265 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15265_C/T homo&heter ENSG00000198727 synonymous_variant ccC/ccT - LOW SNV MT-CYB protein_coding - - - 6438 m.15272A>C 15272 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15272_A/C homo ENSG00000198727 missense_variant Aca/Cca - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6439 m.15274A>G 15274 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15274_A/G homo ENSG00000198727 synonymous_variant acA/acG - LOW SNV MT-CYB protein_coding - - - 6440 m.15277A>G 15277 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15277_A/G homo ENSG00000198727 synonymous_variant cgA/cgG - LOW SNV MT-CYB protein_coding - - - 6441 m.15283T>C 15283 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15283_T/C homo ENSG00000198727 synonymous_variant ttT/ttC - LOW SNV MT-CYB protein_coding - - - 6442 m.15286C>T 15286 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15286_C/T homo ENSG00000198727 synonymous_variant acC/acT - LOW SNV MT-CYB protein_coding - - - 6443 m.15287T>C 15287 T C 16 0.002202037 1 0.000137627 7266 0.002339664 MT_15287_T/C homo&heter ENSG00000198727 missense_variant Ttt/Ctt rs527236044 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.15) benign(0.001) likely_pathogenic,benign 6444 m.15289T>C 15289 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15289_T/C homo ENSG00000198727 synonymous_variant ttT/ttC rs527236175 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6445 m.15292C>T 15292 C T 15 0.002064410 0 0.000000000 7266 0.002064410 MT_15292_C/T homo ENSG00000198727 synonymous_variant caC/caT - LOW SNV MT-CYB protein_coding - - - 6446 m.15293T>C 15293 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15293_T/C homo ENSG00000198727 missense_variant Ttc/Ctc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 6447 m.15294T>C 15294 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15294_T/C homo&heter ENSG00000198727 missense_variant tTc/tCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6448 m.15295C>T 15295 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15295_C/T homo ENSG00000198727 synonymous_variant ttC/ttT - LOW SNV MT-CYB protein_coding - - - 6449 m.15297T>C 15297 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15297_T/C homo ENSG00000198727 missense_variant aTc/aCc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.06) possibly_damaging(0.769) - 6450 m.15298C>T 15298 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_15298_C/T homo ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6451 m.15299T>C 15299 T C 16 0.002202037 3 0.000412882 7266 0.002614919 MT_15299_T/C homo&heter ENSG00000198727 synonymous_variant Ttg/Ctg rs878871827 LOW SNV MT-CYB protein_coding - - - 6452 m.15300T>C 15300 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15300_T/C homo ENSG00000198727 missense_variant tTg/tCg rs1556424556 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6453 m.15301G>A 15301 G A 3565 0.490641343 2 0.000275255 7266 0.490916598 MT_15301_G/A homo&heter ENSG00000198727 synonymous_variant ttG/ttA rs193302991 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6454 m.15306T>C 15306 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_15306_T/C heter ENSG00000198727 missense_variant tTc/tCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 6455 m.15307C>T 15307 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15307_C/T homo ENSG00000198727 synonymous_variant ttC/ttT - LOW SNV MT-CYB protein_coding - - - 6456 m.15309T>C 15309 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15309_T/C heter ENSG00000198727 missense_variant aTt/aCt - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.03) benign(0.378) - 6457 m.15310T>C 15310 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15310_T/C homo ENSG00000198727 synonymous_variant atT/atC rs1556424560,COSV62378328 LOW SNV MT-CYB protein_coding - - - 6458 m.15311A>G 15311 A G 86 0.011835948 0 0.000000000 7266 0.011835948 MT_15311_A/G homo ENSG00000198727 missense_variant Att/Gtt rs35070048 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.15) benign(0.062) - 6459 m.15313T>C 15313 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_15313_T/C homo ENSG00000198727 synonymous_variant atT/atC COSV62377942 LOW SNV MT-CYB protein_coding - - - 6460 m.15314G>A 15314 G A 46 0.006330856 2 0.000275255 7266 0.006606111 MT_15314_G/A homo&heter ENSG00000198727 missense_variant Gca/Aca rs527236176 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.57) benign(0.001) likely_pathogenic,benign 6461 m.15315C>T 15315 C T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_15315_C/T homo ENSG00000198727 missense_variant gCa/gTa rs879191792 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.23) benign(0.066) - 6462 m.15316A>G 15316 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15316_A/G homo ENSG00000198727 synonymous_variant gcA/gcG - LOW SNV MT-CYB protein_coding - - - 6463 m.15317G>A 15317 G A 13 0.001789155 1 0.000137627 7266 0.001926782 MT_15317_G/A homo&heter ENSG00000198727 missense_variant Gcc/Acc rs2853507 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.03) benign(0.01) - 6464 m.15323G>A 15323 G A 63 0.008670520 1 0.000137627 7266 0.008808148 MT_15323_G/A homo&heter ENSG00000198727 missense_variant Gca/Aca rs527236177 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.77) benign(0.006) benign,likely_pathogenic 6465 m.15324C>T 15324 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15324_C/T homo ENSG00000198727 missense_variant gCa/gTa - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(1) benign(0.001) - 6466 m.15326A>G 15326 A G 7219 0.993531517 3 0.000412882 7266 0.993944399 MT_15326_A/G homo&heter ENSG00000198727 missense_variant Aca/Gca rs2853508 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.28) benign(0.009) likely_pathogenic,benign 6467 m.15328A>G 15328 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15328_A/G homo ENSG00000198727 synonymous_variant acA/acG rs527236178 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6468 m.15330T>C 15330 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15330_T/C heter ENSG00000198727 missense_variant cTc/cCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.999) - 6469 m.15334C>T 15334 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15334_C/T homo ENSG00000198727 synonymous_variant caC/caT rs527236179 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6470 m.15337C>T 15337 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15337_C/T homo ENSG00000198727 synonymous_variant ctC/ctT rs370483256 LOW SNV MT-CYB protein_coding - - - 6471 m.15338C>T 15338 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_15338_C/T homo ENSG00000198727 synonymous_variant Cta/Tta - LOW SNV MT-CYB protein_coding - - - 6472 m.15340A>G 15340 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15340_A/G homo ENSG00000198727 synonymous_variant ctA/ctG - LOW SNV MT-CYB protein_coding - - - 6473 m.15341T>C 15341 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15341_T/C homo ENSG00000198727 missense_variant Ttc/Ctc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.991) - 6474 m.15343C>T 15343 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15343_C/T homo ENSG00000198727 synonymous_variant ttC/ttT - LOW SNV MT-CYB protein_coding - - - 6475 m.15344T>C 15344 T C 11 0.001513900 0 0.000000000 7266 0.001513900 MT_15344_T/C homo ENSG00000198727 synonymous_variant Ttg/Ctg COSV62378154 LOW SNV MT-CYB protein_coding - - - 6476 m.15345T>C 15345 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_15345_T/C heter ENSG00000198727 missense_variant tTg/tCg - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6477 m.15346G>A 15346 G A 152 0.020919350 2 0.000275255 7266 0.021194605 MT_15346_G/A homo&heter ENSG00000198727 synonymous_variant ttG/ttA rs527236180 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6478 m.15349C>T 15349 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_15349_C/T homo ENSG00000198727 synonymous_variant caC/caT rs527236201 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6479 m.15353A>G 15353 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15353_A/G homo ENSG00000198727 missense_variant Acg/Gcg - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) benign(0.003) - 6480 m.15355G>A 15355 G A 35 0.004816956 4 0.000550509 7266 0.005367465 MT_15355_G/A homo&heter ENSG00000198727 synonymous_variant acG/acA rs527236181 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6481 m.15358A>G 15358 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_15358_A/G homo&heter ENSG00000198727 synonymous_variant ggA/ggG - LOW SNV MT-CYB protein_coding - - - 6482 m.15363A>G 15363 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15363_A/G homo ENSG00000198727 missense_variant aAc/aGc rs527236182 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.05) probably_damaging(0.993) likely_pathogenic 6483 m.15364C>T 15364 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15364_C/T homo ENSG00000198727 synonymous_variant aaC/aaT - LOW SNV MT-CYB protein_coding - - - 6484 m.15366A>G 15366 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15366_A/G heter ENSG00000198727 missense_variant aAc/aGc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.993) - 6485 m.15367C>T 15367 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_15367_C/T homo ENSG00000198727 synonymous_variant aaC/aaT rs1556424576 LOW SNV MT-CYB protein_coding - - - 6486 m.15370C>G 15370 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15370_C/G homo ENSG00000198727 synonymous_variant ccC/ccG - LOW SNV MT-CYB protein_coding - - - 6487 m.15370C>T 15370 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15370_C/T homo ENSG00000198727 synonymous_variant ccC/ccT - LOW SNV MT-CYB protein_coding - - - 6488 m.15375G>A 15375 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15375_G/A heter ENSG00000198727 missense_variant gGa/gAa COSV62378107 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(1) - 6489 m.15376A>G 15376 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15376_A/G homo ENSG00000198727 synonymous_variant ggA/ggG - LOW SNV MT-CYB protein_coding - - - 6490 m.15376A>T 15376 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15376_A/T homo ENSG00000198727 synonymous_variant ggA/ggT - LOW SNV MT-CYB protein_coding - - - 6491 m.15379C>T 15379 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_15379_C/T homo ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6492 m.15380A>G 15380 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_15380_A/G homo&heter ENSG00000198727 missense_variant Acc/Gcc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.13) benign(0.044) - 6493 m.15381C>T 15381 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_15381_C/T homo ENSG00000198727 missense_variant aCc/aTc rs199721378 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.13) benign(0.361) - 6494 m.15382C>T 15382 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15382_C/T homo ENSG00000198727 synonymous_variant acC/acT - LOW SNV MT-CYB protein_coding - - - 6495 m.15383T>C 15383 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15383_T/C homo ENSG00000198727 missense_variant Tcc/Ccc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.04) probably_damaging(0.998) - 6496 m.15385C>T 15385 C T 12 0.001651528 0 0.000000000 7266 0.001651528 MT_15385_C/T homo ENSG00000198727 synonymous_variant tcC/tcT rs527236183 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6497 m.15386C>G 15386 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15386_C/G homo ENSG00000198727 missense_variant Cat/Gat - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(1) benign(0.105) - 6498 m.15388T>C 15388 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15388_T/C homo ENSG00000198727 synonymous_variant caT/caC rs879233095 LOW SNV MT-CYB protein_coding - - - 6499 m.15391C>T 15391 C T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_15391_C/T homo ENSG00000198727 synonymous_variant tcC/tcT rs879239614 LOW SNV MT-CYB protein_coding - - - 6500 m.15394T>C 15394 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_15394_T/C homo&heter ENSG00000198727 synonymous_variant gaT/gaC - LOW SNV MT-CYB protein_coding - - - 6501 m.15395A>G 15395 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15395_A/G homo ENSG00000198727 missense_variant Aaa/Gaa COSV62378160 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.995) - 6502 m.15397A>G 15397 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15397_A/G homo ENSG00000198727 synonymous_variant aaA/aaG - LOW SNV MT-CYB protein_coding - - - 6503 m.15398A>G 15398 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15398_A/G homo ENSG00000198727 missense_variant Atc/Gtc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.08) benign(0.005) - 6504 m.15400C>T 15400 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15400_C/T homo ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6505 m.15401A>C 15401 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15401_A/C homo ENSG00000198727 missense_variant Acc/Ccc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(1) possibly_damaging(0.806) - 6506 m.15401A>G 15401 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15401_A/G homo ENSG00000198727 missense_variant Acc/Gcc rs200521299 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.02) benign(0.027) - 6507 m.15402C>T 15402 C T 27 0.003715937 0 0.000000000 7266 0.003715937 MT_15402_C/T homo ENSG00000198727 missense_variant aCc/aTc rs879163418 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) possibly_damaging(0.565) - 6508 m.15412T>C 15412 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_15412_T/C homo ENSG00000198727 synonymous_variant ccT/ccC rs368640334 LOW SNV MT-CYB protein_coding - - - 6509 m.15412T>G 15412 T G 19 0.002614919 0 0.000000000 7266 0.002614919 MT_15412_T/G homo ENSG00000198727 synonymous_variant ccT/ccG - LOW SNV MT-CYB protein_coding - - - 6510 m.15418C>T 15418 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_15418_C/T homo ENSG00000198727 synonymous_variant taC/taT - LOW SNV MT-CYB protein_coding - - - 6511 m.15421A>G 15421 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15421_A/G homo ENSG00000198727 synonymous_variant acA/acG rs1569484715 LOW SNV MT-CYB protein_coding - - - 6512 m.15422A>G 15422 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15422_A/G homo ENSG00000198727 missense_variant Atc/Gtc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.08) benign(0) - 6513 m.15423T>C 15423 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15423_T/C homo&heter ENSG00000198727 missense_variant aTc/aCc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.15) benign(0.007) - 6514 m.15424C>T 15424 C T 3 0.000412882 2 0.000275255 7266 0.000688137 MT_15424_C/T homo&heter ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6515 m.15427A>G 15427 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15427_A/G homo ENSG00000198727 synonymous_variant aaA/aaG - LOW SNV MT-CYB protein_coding - - - 6516 m.15430C>T 15430 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15430_C/T homo ENSG00000198727 synonymous_variant gaC/gaT - LOW SNV MT-CYB protein_coding - - - 6517 m.15431G>A 15431 G A 90 0.012386457 1 0.000137627 7266 0.012524085 MT_15431_G/A homo&heter ENSG00000198727 missense_variant Gcc/Acc rs193302993 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.05) benign(0.225) benign,likely_pathogenic 6518 m.15434C>T 15434 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15434_C/T homo ENSG00000198727 missense_variant Ctc/Ttc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.03) probably_damaging(0.999) - 6519 m.15436C>T 15436 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_15436_C/T homo ENSG00000198727 synonymous_variant ctC/ctT - LOW SNV MT-CYB protein_coding - - - 6520 m.15437G>A 15437 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15437_G/A heter ENSG00000198727 missense_variant Ggc/Agc rs878853058 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(1) uncertain_significance 6521 m.15439C>T 15439 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15439_C/T homo ENSG00000198727 synonymous_variant ggC/ggT - LOW SNV MT-CYB protein_coding - - - 6522 m.15440T>C 15440 T C 56 0.007707129 0 0.000000000 7266 0.007707129 MT_15440_T/C homo ENSG00000198727 synonymous_variant Tta/Cta - LOW SNV MT-CYB protein_coding - - - 6523 m.15442A>G 15442 A G 4 0.000550509 2 0.000275255 7266 0.000825764 MT_15442_A/G homo&heter ENSG00000198727 synonymous_variant ttA/ttG - LOW SNV MT-CYB protein_coding - - - 6524 m.15445T>C 15445 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_15445_T/C homo ENSG00000198727 synonymous_variant ctT/ctC rs386829247 LOW SNV MT-CYB protein_coding - - - 6525 m.15449T>C 15449 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_15449_T/C homo&heter ENSG00000198727 missense_variant Ttc/Ctc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(1) benign(0.001) - 6526 m.15449T>G 15449 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15449_T/G homo ENSG00000198727 missense_variant Ttc/Gtc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.03) benign(0.073) - 6527 m.15452C>A 15452 C A 145 0.019955959 0 0.000000000 7266 0.019955959 MT_15452_C/A homo ENSG00000198727 missense_variant Ctt/Att rs193302994 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.51) benign(0.236) likely_pathogenic,benign 6528 m.15454T>C 15454 T C 15 0.002064410 1 0.000137627 7266 0.002202037 MT_15454_T/C homo&heter ENSG00000198727 synonymous_variant ctT/ctC rs879015290,COSV62378632 LOW SNV MT-CYB protein_coding - - - 6529 m.15455C>A 15455 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15455_C/A homo ENSG00000198727 missense_variant Ctc/Atc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.26) benign(0.405) - 6530 m.15458T>C 15458 T C 23 0.003165428 1 0.000137627 7266 0.003303055 MT_15458_T/C homo&heter ENSG00000198727 missense_variant Tcc/Ccc rs527236185 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.24) benign(0.187) benign,likely_pathogenic 6531 m.15459C>T 15459 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15459_C/T homo ENSG00000198727 missense_variant tCc/tTc rs527236186 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.87) benign(0.153) likely_benign,likely_pathogenic 6532 m.15460C>T 15460 C T 22 0.003027801 1 0.000137627 7266 0.003165428 MT_15460_C/T homo&heter ENSG00000198727 synonymous_variant tcC/tcT rs1556424589 LOW SNV MT-CYB protein_coding - - - 6533 m.15461T>C 15461 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15461_T/C homo ENSG00000198727 synonymous_variant Tta/Cta - LOW SNV MT-CYB protein_coding - - - 6534 m.15463A>G 15463 A G 12 0.001651528 0 0.000000000 7266 0.001651528 MT_15463_A/G homo ENSG00000198727 synonymous_variant ttA/ttG - LOW SNV MT-CYB protein_coding - - - 6535 m.15465T>C 15465 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15465_T/C homo ENSG00000198727 missense_variant aTg/aCg COSV62378147 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.49) probably_damaging(0.987) - 6536 m.15466G>A 15466 G A 11 0.001513900 0 0.000000000 7266 0.001513900 MT_15466_G/A homo ENSG00000198727 synonymous_variant atG/atA rs375562872 LOW SNV MT-CYB protein_coding - - - 6537 m.15467A>G 15467 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15467_A/G homo ENSG00000198727 missense_variant Aca/Gca rs1569484723 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.32) benign(0.003) likely_benign,uncertain_significance 6538 m.15468C>T 15468 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15468_C/T homo ENSG00000198727 missense_variant aCa/aTa - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.16) possibly_damaging(0.607) - 6539 m.15470T>C 15470 T C 28 0.003853565 1 0.000137627 7266 0.003991192 MT_15470_T/C homo&heter ENSG00000198727 synonymous_variant Tta/Cta rs527236187 LOW SNV MT-CYB protein_coding - - likely_pathogenic,benign 6540 m.15475A>G 15475 A G 56 0.007707129 0 0.000000000 7266 0.007707129 MT_15475_A/G homo ENSG00000198727 synonymous_variant acA/acG - LOW SNV MT-CYB protein_coding - - - 6541 m.15478A>G 15478 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15478_A/G homo ENSG00000198727 synonymous_variant ctA/ctG - LOW SNV MT-CYB protein_coding - - - 6542 m.15479T>C 15479 T C 40 0.005505092 1 0.000137627 7266 0.005642720 MT_15479_T/C homo&heter ENSG00000198727 missense_variant Ttc/Ctc rs202008188 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.06) benign(0.009) - 6543 m.15480T>A 15480 T A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15480_T/A heter ENSG00000198727 missense_variant tTc/tAc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) benign(0.02) - 6544 m.15480T>C 15480 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15480_T/C heter ENSG00000198727 missense_variant tTc/tCc rs1556424591 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) possibly_damaging(0.749) - 6545 m.15481C>T 15481 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_15481_C/T homo ENSG00000198727 synonymous_variant ttC/ttT - LOW SNV MT-CYB protein_coding - - - 6546 m.15482T>C 15482 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15482_T/C homo&heter ENSG00000198727 missense_variant Tca/Cca rs1556424592 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.04) possibly_damaging(0.503) - 6547 m.15483C>T 15483 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15483_C/T homo ENSG00000198727 missense_variant tCa/tTa - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.15) benign(0.383) - 6548 m.15487A>G 15487 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_15487_A/G homo ENSG00000198727 synonymous_variant ccA/ccG rs28357370 LOW SNV MT-CYB protein_coding - - likely_benign 6549 m.15487A>T 15487 A T 520 0.071566199 0 0.000000000 7266 0.071566199 MT_15487_A/T homo ENSG00000198727 synonymous_variant ccA/ccT rs28357370 LOW SNV MT-CYB protein_coding - - - 6550 m.15493C>T 15493 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_15493_C/T homo ENSG00000198727 synonymous_variant ctC/ctT rs879060042 LOW SNV MT-CYB protein_coding - - - 6551 m.15494C>A 15494 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15494_C/A homo ENSG00000198727 missense_variant Cta/Ata - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.997) - 6552 m.15495T>C 15495 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15495_T/C homo ENSG00000198727 missense_variant cTa/cCa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6553 m.15496A>G 15496 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_15496_A/G homo ENSG00000198727 synonymous_variant ctA/ctG rs879051368,COSV62377828 LOW SNV MT-CYB protein_coding - - - 6554 m.15497G>A 15497 G A 65 0.008945775 0 0.000000000 7266 0.008945775 MT_15497_G/A homo ENSG00000198727 missense_variant Ggc/Agc rs199951903 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.05) benign(0.25) benign,risk_factor,likely_benign 6555 m.15499C>T 15499 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15499_C/T homo ENSG00000198727 synonymous_variant ggC/ggT rs878918088 LOW SNV MT-CYB protein_coding - - - 6556 m.15500G>A 15500 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15500_G/A heter ENSG00000198727 missense_variant Gac/Aac COSV62378131 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.996) - 6557 m.15502C>T 15502 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15502_C/T homo ENSG00000198727 synonymous_variant gaC/gaT - LOW SNV MT-CYB protein_coding - - - 6558 m.15505A>G 15505 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15505_A/G homo&heter ENSG00000198727 synonymous_variant ccA/ccG - LOW SNV MT-CYB protein_coding - - - 6559 m.15508C>T 15508 C T 99 0.013625103 1 0.000137627 7266 0.013762731 MT_15508_C/T homo&heter ENSG00000198727 synonymous_variant gaC/gaT rs3134743 LOW SNV MT-CYB protein_coding - - - 6560 m.15510A>G 15510 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15510_A/G homo ENSG00000198727 missense_variant aAt/aGt - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.022) - 6561 m.15511T>C 15511 T C 26 0.003578310 1 0.000137627 7266 0.003715937 MT_15511_T/C homo&heter ENSG00000198727 synonymous_variant aaT/aaC rs527236188 LOW SNV MT-CYB protein_coding - - likely_benign,likely_pathogenic 6562 m.15512T>C 15512 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15512_T/C heter ENSG00000198727 missense_variant Tat/Cat rs879031246 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.02) probably_damaging(0.998) - 6563 m.15514T>C 15514 T C 49 0.006743738 0 0.000000000 7266 0.006743738 MT_15514_T/C homo ENSG00000198727 synonymous_variant taT/taC rs878853086 LOW SNV MT-CYB protein_coding - - likely_benign 6564 m.15515A>G 15515 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15515_A/G homo ENSG00000198727 missense_variant Acc/Gcc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.015) - 6565 m.15516C>T 15516 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15516_C/T homo ENSG00000198727 missense_variant aCc/aTc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.14) benign(0.007) - 6566 m.15517C>T 15517 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15517_C/T homo ENSG00000198727 synonymous_variant acC/acT - LOW SNV MT-CYB protein_coding - - - 6567 m.15518C>T 15518 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_15518_C/T homo ENSG00000198727 synonymous_variant Cta/Tta - LOW SNV MT-CYB protein_coding - - - 6568 m.15519T>C 15519 T C 17 0.002339664 0 0.000000000 7266 0.002339664 MT_15519_T/C homo ENSG00000198727 missense_variant cTa/cCa rs200913192 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(1) possibly_damaging(0.623) - 6569 m.15520A>G 15520 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15520_A/G homo ENSG00000198727 synonymous_variant ctA/ctG - LOW SNV MT-CYB protein_coding - - - 6570 m.15521G>A 15521 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15521_G/A heter ENSG00000198727 missense_variant Gcc/Acc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.997) - 6571 m.15523C>T 15523 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15523_C/T homo ENSG00000198727 synonymous_variant gcC/gcT - LOW SNV MT-CYB protein_coding - - - 6572 m.15524A>G 15524 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15524_A/G homo ENSG00000198727 missense_variant Aac/Gac - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.03) probably_damaging(0.99) - 6573 m.15525A>G 15525 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15525_A/G homo ENSG00000198727 missense_variant aAc/aGc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.972) - 6574 m.15526C>T 15526 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15526_C/T homo ENSG00000198727 synonymous_variant aaC/aaT - LOW SNV MT-CYB protein_coding - - - 6575 m.15529C>A 15529 C A 19 0.002614919 0 0.000000000 7266 0.002614919 MT_15529_C/A homo ENSG00000198727 synonymous_variant ccC/ccA - LOW SNV MT-CYB protein_coding - - - 6576 m.15529C>T 15529 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15529_C/T homo ENSG00000198727 synonymous_variant ccC/ccT - LOW SNV MT-CYB protein_coding - - - 6577 m.15530T>A 15530 T A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15530_T/A homo ENSG00000198727 missense_variant Tta/Ata - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.02) probably_damaging(0.997) - 6578 m.15530T>C 15530 T C 8 0.001101018 2 0.000275255 7266 0.001376273 MT_15530_T/C homo&heter ENSG00000198727 synonymous_variant Tta/Cta rs1556424600 LOW SNV MT-CYB protein_coding - - - 6579 m.15532A>G 15532 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15532_A/G homo ENSG00000198727 synonymous_variant ttA/ttG - LOW SNV MT-CYB protein_coding - - - 6580 m.15533A>G 15533 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15533_A/G homo ENSG00000198727 missense_variant Aac/Gac rs1556424601 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.06) benign(0.151) - 6581 m.15534A>G 15534 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15534_A/G heter ENSG00000198727 missense_variant aAc/aGc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.51) benign(0.001) - 6582 m.15535C>T 15535 C T 298 0.041012937 0 0.000000000 7266 0.041012937 MT_15535_C/T homo ENSG00000198727 synonymous_variant aaC/aaT rs28357371 LOW SNV MT-CYB protein_coding - - - 6583 m.15536A>AC 15536 A AC 0 0.000000000 3 0.000412882 7266 0.000412882 MT_15537_-/C heter ENSG00000198727 frameshift_variant acc/aCcc - HIGH insertion MT-CYB protein_coding - - - 6584 m.15541T>C 15541 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_15541_T/C homo ENSG00000198727 synonymous_variant ccT/ccC rs386829250 LOW SNV MT-CYB protein_coding - - - 6585 m.15544C>A 15544 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15544_C/A homo ENSG00000198727 synonymous_variant ccC/ccA - LOW SNV MT-CYB protein_coding - - - 6586 m.15547C>T 15547 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_15547_C/T homo ENSG00000198727 synonymous_variant caC/caT - LOW SNV MT-CYB protein_coding - - - 6587 m.15550C>T 15550 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_15550_C/T homo ENSG00000198727 synonymous_variant atC/atT rs1556424606 LOW SNV MT-CYB protein_coding - - - 6588 m.15553G>A 15553 G A 8 0.001101018 1 0.000137627 7266 0.001238646 MT_15553_G/A homo&heter ENSG00000198727 synonymous_variant aaG/aaA rs527236189 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6589 m.15557G>A 15557 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15557_G/A heter ENSG00000198727 missense_variant Gaa/Aaa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 6590 m.15559A>G 15559 A G 2 0.000275255 2 0.000275255 7266 0.000550509 MT_15559_A/G homo&heter ENSG00000198727 synonymous_variant gaA/gaG rs1556424612 LOW SNV MT-CYB protein_coding - - - 6591 m.15560T>C 15560 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15560_T/C heter ENSG00000198727 missense_variant Tga/Cga - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) possibly_damaging(0.849) - 6592 m.15562A>G 15562 A G 22 0.003027801 0 0.000000000 7266 0.003027801 MT_15562_A/G homo ENSG00000198727 synonymous_variant tgA/tgG rs1556424613 LOW SNV MT-CYB protein_coding - - - 6593 m.15565T>C 15565 T C 27 0.003715937 0 0.000000000 7266 0.003715937 MT_15565_T/C homo ENSG00000198727 synonymous_variant taT/taC rs879116676 LOW SNV MT-CYB protein_coding - - - 6594 m.15574C>T 15574 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_15574_C/T homo ENSG00000198727 synonymous_variant ttC/ttT - LOW SNV MT-CYB protein_coding - - - 6595 m.15575G>A 15575 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15575_G/A heter ENSG00000198727 missense_variant Gcc/Acc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6596 m.15580C>T 15580 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15580_C/T homo ENSG00000198727 synonymous_variant taC/taT - LOW SNV MT-CYB protein_coding - - - 6597 m.15581A>G 15581 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15581_A/G homo ENSG00000198727 missense_variant Aca/Gca - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(1) benign(0.006) - 6598 m.15584A>G 15584 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15584_A/G homo ENSG00000198727 missense_variant Att/Gtt - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.926) - 6599 m.15586T>C 15586 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_15586_T/C homo&heter ENSG00000198727 synonymous_variant atT/atC rs878971797 LOW SNV MT-CYB protein_coding - - - 6600 m.15589C>A 15589 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15589_C/A homo ENSG00000198727 synonymous_variant ctC/ctA - LOW SNV MT-CYB protein_coding - - - 6601 m.15592A>G 15592 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15592_A/G homo ENSG00000198727 synonymous_variant cgA/cgG rs386829251 LOW SNV MT-CYB protein_coding - - - 6602 m.15595C>A 15595 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15595_C/A homo ENSG00000198727 synonymous_variant tcC/tcA - LOW SNV MT-CYB protein_coding - - - 6603 m.15596G>A 15596 G A 10 0.001376273 0 0.000000000 7266 0.001376273 MT_15596_G/A homo ENSG00000198727 missense_variant Gtc/Atc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(1) benign(0.033) - 6604 m.15597T>C 15597 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15597_T/C heter ENSG00000198727 missense_variant gTc/gCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.434) - 6605 m.15601T>C 15601 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_15601_T/C homo ENSG00000198727 synonymous_variant ccT/ccC - LOW SNV MT-CYB protein_coding - - - 6606 m.15603A>AT 15603 A AT 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15604_-/T heter ENSG00000198727 frameshift_variant aac/aaTc - HIGH insertion MT-CYB protein_coding - - - 6607 m.15603A>G 15603 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15603_A/G homo&heter ENSG00000198727 missense_variant aAc/aGc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.972) - 6608 m.15604C>T 15604 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_15604_C/T homo ENSG00000198727 synonymous_variant aaC/aaT - LOW SNV MT-CYB protein_coding - - - 6609 m.15607A>G 15607 A G 88 0.012111203 1 0.000137627 7266 0.012248830 MT_15607_A/G homo&heter ENSG00000198727 synonymous_variant aaA/aaG rs193302996 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6610 m.15608C>T 15608 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15608_C/T homo ENSG00000198727 synonymous_variant Cta/Tta - LOW SNV MT-CYB protein_coding - - - 6611 m.15609T>C 15609 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15609_T/C heter ENSG00000198727 missense_variant cTa/cCa COSV62378352 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6612 m.15613A>G 15613 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15613_A/G homo ENSG00000198727 synonymous_variant ggA/ggG - LOW SNV MT-CYB protein_coding - - - 6613 m.15617G>A 15617 G A 5 0.000688137 1 0.000137627 7266 0.000825764 MT_15617_G/A homo&heter ENSG00000198727 missense_variant Gtc/Atc rs1556424625 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.966) - 6614 m.15618T>C 15618 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15618_T/C heter ENSG00000198727 missense_variant gTc/gCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.997) - 6615 m.15619C>T 15619 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15619_C/T homo ENSG00000198727 synonymous_variant gtC/gtT - LOW SNV MT-CYB protein_coding - - - 6616 m.15622T>C 15622 T C 36 0.004954583 1 0.000137627 7266 0.005092210 MT_15622_T/C homo&heter ENSG00000198727 synonymous_variant ctT/ctC rs878972059 LOW SNV MT-CYB protein_coding - - - 6617 m.15622T>G 15622 T G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15622_T/G homo ENSG00000198727 synonymous_variant ctT/ctG - LOW SNV MT-CYB protein_coding - - - 6618 m.15623G>A 15623 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15623_G/A homo ENSG00000198727 missense_variant Gcc/Acc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.997) - 6619 m.15625C>T 15625 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15625_C/T homo ENSG00000198727 synonymous_variant gcC/gcT rs368653085 LOW SNV MT-CYB protein_coding - - - 6620 m.15626C>T 15626 C T 10 0.001376273 0 0.000000000 7266 0.001376273 MT_15626_C/T homo ENSG00000198727 synonymous_variant Cta/Tta rs386829254 LOW SNV MT-CYB protein_coding - - - 6621 m.15627T>C 15627 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15627_T/C heter ENSG00000198727 missense_variant cTa/cCa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6622 m.15629T>C 15629 T C 52 0.007156620 0 0.000000000 7266 0.007156620 MT_15629_T/C homo ENSG00000198727 synonymous_variant Tta/Cta rs28357373 LOW SNV MT-CYB protein_coding - - - 6623 m.15630T>C 15630 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15630_T/C homo ENSG00000198727 missense_variant tTa/tCa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) possibly_damaging(0.886) - 6624 m.15631A>G 15631 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15631_A/G homo ENSG00000198727 synonymous_variant ttA/ttG - LOW SNV MT-CYB protein_coding - - - 6625 m.15632C>A 15632 C A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15632_C/A homo ENSG00000198727 missense_variant Cta/Ata - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.27) benign(0.293) - 6626 m.15632C>T 15632 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15632_C/T homo ENSG00000198727 synonymous_variant Cta/Tta rs1556424632 LOW SNV MT-CYB protein_coding - - - 6627 m.15636C>T 15636 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15636_C/T heter ENSG00000198727 missense_variant tCc/tTc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6628 m.15637C>T 15637 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15637_C/T homo ENSG00000198727 synonymous_variant tcC/tcT rs527236190 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6629 m.15638A>T 15638 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15638_A/T homo ENSG00000198727 missense_variant Atc/Ttc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.992) - 6630 m.15639T>C 15639 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_15639_T/C heter ENSG00000198727 missense_variant aTc/aCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.996) - 6631 m.15640C>T 15640 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15640_C/T homo ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6632 m.15641C>T 15641 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15641_C/T homo ENSG00000198727 missense_variant Ctc/Ttc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.03) probably_damaging(0.997) - 6633 m.15642T>C 15642 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15642_T/C heter ENSG00000198727 missense_variant cTc/cCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6634 m.15644A>G 15644 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15644_A/G homo ENSG00000198727 missense_variant Atc/Gtc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.48) probably_damaging(0.926) - 6635 m.15646C>T 15646 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15646_C/T homo ENSG00000198727 synonymous_variant atC/atT rs879113411 LOW SNV MT-CYB protein_coding - - - 6636 m.15647C>T 15647 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15647_C/T homo ENSG00000198727 synonymous_variant Cta/Tta - LOW SNV MT-CYB protein_coding - - - 6637 m.15648T>C 15648 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15648_T/C heter ENSG00000198727 missense_variant cTa/cCa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(1) - 6638 m.15649A>G 15649 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_15649_A/G homo ENSG00000198727 synonymous_variant ctA/ctG rs527236191 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6639 m.15651C>T 15651 C T 13 0.001789155 0 0.000000000 7266 0.001789155 MT_15651_C/T homo ENSG00000198727 missense_variant gCa/gTa - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(1) benign(0) - 6640 m.15652A>G 15652 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15652_A/G homo ENSG00000198727 synonymous_variant gcA/gcG rs879225883 LOW SNV MT-CYB protein_coding - - - 6641 m.15653A>G 15653 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15653_A/G homo ENSG00000198727 missense_variant Ata/Gta rs878890251 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.29) benign(0.001) - 6642 m.15654T>A 15654 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15654_T/A homo ENSG00000198727 missense_variant aTa/aAa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) benign(0.106) - 6643 m.15655A>G 15655 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15655_A/G homo ENSG00000198727 synonymous_variant atA/atG - LOW SNV MT-CYB protein_coding - - - 6644 m.15658C>T 15658 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_15658_C/T homo ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6645 m.15661C>T 15661 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_15661_C/T homo ENSG00000198727 synonymous_variant ccC/ccT - LOW SNV MT-CYB protein_coding - - - 6646 m.15662A>G 15662 A G 99 0.013625103 0 0.000000000 7266 0.013625103 MT_15662_A/G homo ENSG00000198727 missense_variant Atc/Gtc rs3094280 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.04) benign(0.001) - 6647 m.15663T>C 15663 T C 4 0.000550509 2 0.000275255 7266 0.000825764 MT_15663_T/C homo&heter ENSG00000198727 missense_variant aTc/aCc rs369851331 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.07) benign(0.001) - 6648 m.15670T>C 15670 T C 117 0.016102395 3 0.000412882 7266 0.016515277 MT_15670_T/C homo&heter ENSG00000198727 synonymous_variant caT/caC rs193302997 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6649 m.15671A>G 15671 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_15671_A/G homo ENSG00000198727 missense_variant Ata/Gta - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.03) benign(0) - 6650 m.15672T>C 15672 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_15672_T/C homo ENSG00000198727 missense_variant aTa/aCa rs199967113 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(1) benign(0) - 6651 m.15673A>G 15673 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15673_A/G homo ENSG00000198727 synonymous_variant atA/atG - LOW SNV MT-CYB protein_coding - - - 6652 m.15674T>C 15674 T C 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15674_T/C homo&heter ENSG00000198727 missense_variant Tcc/Ccc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) possibly_damaging(0.572) - 6653 m.15679A>G 15679 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15679_A/G homo ENSG00000198727 synonymous_variant aaA/aaG - LOW SNV MT-CYB protein_coding - - - 6654 m.15682A>G 15682 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15682_A/G homo ENSG00000198727 synonymous_variant caA/caG rs527236192 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6655 m.15688C>T 15688 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_15688_C/T homo ENSG00000198727 synonymous_variant agC/agT - LOW SNV MT-CYB protein_coding - - - 6656 m.15691A>G 15691 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15691_A/G homo ENSG00000198727 synonymous_variant atA/atG rs376851243 LOW SNV MT-CYB protein_coding - - - 6657 m.15693T>C 15693 T C 27 0.003715937 1 0.000137627 7266 0.003853565 MT_15693_T/C homo&heter ENSG00000198727 missense_variant aTa/aCa rs200975632,COSV62378471 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.81) benign(0.003) - 6658 m.15696T>C 15696 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15696_T/C heter ENSG00000198727 missense_variant tTt/tCt - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 6659 m.15697T>C 15697 T C 14 0.001926782 0 0.000000000 7266 0.001926782 MT_15697_T/C homo ENSG00000198727 synonymous_variant ttT/ttC - LOW SNV MT-CYB protein_coding - - - 6660 m.15700C>T 15700 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15700_C/T homo ENSG00000198727 synonymous_variant cgC/cgT - LOW SNV MT-CYB protein_coding - - - 6661 m.15703A>G 15703 A G 10 0.001376273 1 0.000137627 7266 0.001513900 MT_15703_A/G homo&heter ENSG00000198727 synonymous_variant ccA/ccG - LOW SNV MT-CYB protein_coding - - - 6662 m.15704C>T 15704 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15704_C/T homo ENSG00000198727 synonymous_variant Cta/Tta - LOW SNV MT-CYB protein_coding - - - 6663 m.15709C>T 15709 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15709_C/T homo&heter ENSG00000198727 synonymous_variant agC/agT - LOW SNV MT-CYB protein_coding - - - 6664 m.15712A>G 15712 A G 11 0.001513900 1 0.000137627 7266 0.001651528 MT_15712_A/G homo&heter ENSG00000198727 synonymous_variant caA/caG rs374778622 LOW SNV MT-CYB protein_coding - - - 6665 m.15713T>C 15713 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_15713_T/C heter ENSG00000198727 missense_variant Tca/Cca - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.02) benign(0.417) - 6666 m.15714C>T 15714 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_15714_C/T homo ENSG00000198727 missense_variant tCa/tTa - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.31) benign(0) - 6667 m.15715A>G 15715 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15715_A/G homo ENSG00000198727 synonymous_variant tcA/tcG rs386829258 LOW SNV MT-CYB protein_coding - - - 6668 m.15717T>C 15717 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15717_T/C heter ENSG00000198727 missense_variant cTt/cCt - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) possibly_damaging(0.703) - 6669 m.15718T>A 15718 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15718_T/A homo ENSG00000198727 synonymous_variant ctT/ctA - LOW SNV MT-CYB protein_coding - - - 6670 m.15718T>C 15718 T C 5 0.000688137 0 0.000000000 7266 0.000688137 MT_15718_T/C homo ENSG00000198727 synonymous_variant ctT/ctC - LOW SNV MT-CYB protein_coding - - - 6671 m.15721T>C 15721 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_15721_T/C homo&heter ENSG00000198727 synonymous_variant taT/taC rs879011405 LOW SNV MT-CYB protein_coding - - - 6672 m.15724A>G 15724 A G 87 0.011973576 1 0.000137627 7266 0.012111203 MT_15724_A/G homo&heter ENSG00000198727 synonymous_variant tgA/tgG - LOW SNV MT-CYB protein_coding - - - 6673 m.15725C>T 15725 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15725_C/T homo ENSG00000198727 missense_variant Ctc/Ttc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.06) benign(0.014) - 6674 m.15726T>C 15726 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15726_T/C heter ENSG00000198727 missense_variant cTc/cCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.935) - 6675 m.15727C>A 15727 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15727_C/A homo ENSG00000198727 synonymous_variant ctC/ctA - LOW SNV MT-CYB protein_coding - - - 6676 m.15727C>T 15727 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15727_C/T homo ENSG00000198727 synonymous_variant ctC/ctT - LOW SNV MT-CYB protein_coding - - - 6677 m.15728C>T 15728 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15728_C/T homo ENSG00000198727 synonymous_variant Cta/Tta - LOW SNV MT-CYB protein_coding - - - 6678 m.15731G>A 15731 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15731_G/A homo ENSG00000198727 missense_variant Gcc/Acc rs1556424652 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.17) benign(0.003) - 6679 m.15732C>T 15732 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15732_C/T homo ENSG00000198727 missense_variant gCc/gTc rs879129589 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(1) benign(0.003) - 6680 m.15734G>A 15734 G A 48 0.006606111 4 0.000550509 7266 0.007156620 MT_15734_G/A homo&heter ENSG00000198727 missense_variant Gca/Aca rs386829259 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.11) benign(0.015) - 6681 m.15735C>T 15735 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_15735_C/T homo ENSG00000198727 missense_variant gCa/gTa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) benign(0.012) - 6682 m.15737G>A 15737 G A 10 0.001376273 2 0.000275255 7266 0.001651528 MT_15737_G/A homo&heter ENSG00000198727 missense_variant Gac/Aac - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.5) benign(0.006) - 6683 m.15740C>T 15740 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_15740_C/T homo ENSG00000198727 missense_variant Ctc/Ttc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.997) - 6684 m.15744T>C 15744 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15744_T/C heter ENSG00000198727 missense_variant cTc/cCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.999) - 6685 m.15745C>T 15745 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15745_C/T homo&heter ENSG00000198727 synonymous_variant ctC/ctT - LOW SNV MT-CYB protein_coding - - - 6686 m.15746A>G 15746 A G 32 0.004404074 1 0.000137627 7266 0.004541701 MT_15746_A/G homo&heter ENSG00000198727 missense_variant Att/Gtt rs386829260 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.18) benign(0) benign 6687 m.15747T>C 15747 T C 7 0.000963391 2 0.000275255 7266 0.001238646 MT_15747_T/C homo&heter ENSG00000198727 missense_variant aTt/aCt - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.75) benign(0.007) - 6688 m.15748T>C 15748 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15748_T/C homo ENSG00000198727 synonymous_variant atT/atC - LOW SNV MT-CYB protein_coding - - - 6689 m.15749C>T 15749 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15749_C/T homo ENSG00000198727 synonymous_variant Cta/Tta - LOW SNV MT-CYB protein_coding - - - 6690 m.15752A>G 15752 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15752_A/G heter ENSG00000198727 missense_variant Acc/Gcc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.972) - 6691 m.15754C>T 15754 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15754_C/T homo ENSG00000198727 synonymous_variant acC/acT - LOW SNV MT-CYB protein_coding - - - 6692 m.15758A>C 15758 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15758_A/C homo ENSG00000198727 missense_variant Atc/Ctc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.099) - 6693 m.15758A>G 15758 A G 53 0.007294247 0 0.000000000 7266 0.007294247 MT_15758_A/G homo ENSG00000198727 missense_variant Atc/Gtc rs527236193 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.02) benign(0.003) likely_pathogenic,benign 6694 m.15760C>T 15760 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15760_C/T homo ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6695 m.15761G>A 15761 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15761_G/A heter ENSG00000198727 stop_gained Gga/Aga - HIGH SNV MT-CYB protein_coding - - - 6696 m.15763A>G 15763 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15763_A/G homo&heter ENSG00000198727 synonymous_variant ggA/ggG - LOW SNV MT-CYB protein_coding - - - 6697 m.15765G>A 15765 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15765_G/A homo&heter ENSG00000198727 missense_variant gGa/gAa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(1) - 6698 m.15766A>G 15766 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15766_A/G homo ENSG00000198727 synonymous_variant ggA/ggG rs373906549 LOW SNV MT-CYB protein_coding - - - 6699 m.15767C>G 15767 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15767_C/G homo ENSG00000198727 missense_variant Caa/Gaa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.983) - 6700 m.15769A>G 15769 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_15769_A/G homo ENSG00000198727 synonymous_variant caA/caG - LOW SNV MT-CYB protein_coding - - - 6701 m.15773G>A 15773 G A 11 0.001513900 4 0.000550509 7266 0.002064410 MT_15773_G/A homo&heter ENSG00000198727 missense_variant Gta/Ata rs386829261 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.03) probably_damaging(0.997) - 6702 m.15774T>C 15774 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_15774_T/C homo&heter ENSG00000198727 missense_variant gTa/gCa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(0.993) - 6703 m.15775A>G 15775 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_15775_A/G homo ENSG00000198727 synonymous_variant gtA/gtG rs879070232 LOW SNV MT-CYB protein_coding - - - 6704 m.15776A>G 15776 A G 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15776_A/G homo&heter ENSG00000198727 missense_variant Agc/Ggc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.38) - 6705 m.15777G>A 15777 G A 10 0.001376273 0 0.000000000 7266 0.001376273 MT_15777_G/A homo ENSG00000198727 missense_variant aGc/aAc rs879182710 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.02) benign(0.027) benign,likely_benign 6706 m.15777G>C 15777 G C 9 0.001238646 0 0.000000000 7266 0.001238646 MT_15777_G/C homo ENSG00000198727 missense_variant aGc/aCc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) benign(0.38) - 6707 m.15784T>C 15784 T C 394 0.054225158 1 0.000137627 7266 0.054362786 MT_15784_T/C homo&heter ENSG00000198727 synonymous_variant ccT/ccC rs527236194 LOW SNV MT-CYB protein_coding - - likely_pathogenic 6708 m.15785T>C 15785 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15785_T/C heter ENSG00000198727 missense_variant Ttt/Ctt rs879052837 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.04) probably_damaging(0.995) - 6709 m.15787T>C 15787 T C 16 0.002202037 0 0.000000000 7266 0.002202037 MT_15787_T/C homo ENSG00000198727 synonymous_variant ttT/ttC - LOW SNV MT-CYB protein_coding - - - 6710 m.15788A>G 15788 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15788_A/G homo ENSG00000198727 missense_variant Acc/Gcc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.151) - 6711 m.15789C>T 15789 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15789_C/T homo ENSG00000198727 missense_variant aCc/aTc rs1556424663 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(1) benign(0.006) - 6712 m.15790C>T 15790 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_15790_C/T homo ENSG00000198727 synonymous_variant acC/acT rs879063269 LOW SNV MT-CYB protein_coding - - - 6713 m.15791A>G 15791 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15791_A/G homo ENSG00000198727 missense_variant Atc/Gtc rs1556424666 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.08) benign(0.003) - 6714 m.15793C>T 15793 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15793_C/T homo ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6715 m.15795T>C 15795 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15795_T/C heter ENSG00000198727 missense_variant aTt/aCt - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 6716 m.15796T>C 15796 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15796_T/C homo ENSG00000198727 synonymous_variant atT/atC - LOW SNV MT-CYB protein_coding - - - 6717 m.15799A>G 15799 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_15799_A/G homo ENSG00000198727 synonymous_variant ggA/ggG - LOW SNV MT-CYB protein_coding - - - 6718 m.15802A>G 15802 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15802_A/G homo ENSG00000198727 synonymous_variant caA/caG - LOW SNV MT-CYB protein_coding - - - 6719 m.15803G>A 15803 G A 12 0.001651528 3 0.000412882 7266 0.002064410 MT_15803_G/A homo&heter ENSG00000198727 missense_variant Gta/Ata - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.14) benign(0.129) - 6720 m.15804T>C 15804 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15804_T/C homo ENSG00000198727 missense_variant gTa/gCa rs1556424669 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.07) benign(0.38) - 6721 m.15805A>G 15805 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_15805_A/G homo ENSG00000198727 synonymous_variant gtA/gtG - LOW SNV MT-CYB protein_coding - - - 6722 m.15806G>A 15806 G A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15806_G/A homo&heter ENSG00000198727 missense_variant Gca/Aca - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) benign(0.039) - 6723 m.15807C>G 15807 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15807_C/G homo ENSG00000198727 missense_variant gCa/gGa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.304) - 6724 m.15808A>G 15808 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15808_A/G homo ENSG00000198727 synonymous_variant gcA/gcG - LOW SNV MT-CYB protein_coding - - - 6725 m.15809T>C 15809 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15809_T/C heter ENSG00000198727 missense_variant Tcc/Ccc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.998) - 6726 m.15811C>T 15811 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15811_C/T homo ENSG00000198727 synonymous_variant tcC/tcT - LOW SNV MT-CYB protein_coding - - - 6727 m.15812G>A 15812 G A 29 0.003991192 1 0.000137627 7266 0.004128819 MT_15812_G/A homo&heter ENSG00000198727 missense_variant Gta/Ata rs200336777 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.09) benign(0.028) benign,pathogenic 6728 m.15813T>C 15813 T C 2 0.000275255 2 0.000275255 7266 0.000550509 MT_15813_T/C homo&heter ENSG00000198727 missense_variant gTa/gCa - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.11) benign(0.012) - 6729 m.15814A>G 15814 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15814_A/G homo ENSG00000198727 synonymous_variant gtA/gtG - LOW SNV MT-CYB protein_coding - - - 6730 m.15815C>T 15815 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15815_C/T homo ENSG00000198727 synonymous_variant Cta/Tta rs1556424672 LOW SNV MT-CYB protein_coding - - - 6731 m.15817A>G 15817 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_15817_A/G homo ENSG00000198727 synonymous_variant ctA/ctG rs1556424673 LOW SNV MT-CYB protein_coding - - - 6732 m.15818T>C 15818 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15818_T/C heter ENSG00000198727 missense_variant Tac/Cac - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) probably_damaging(1) - 6733 m.15820C>T 15820 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15820_C/T homo ENSG00000198727 synonymous_variant taC/taT - LOW SNV MT-CYB protein_coding - - - 6734 m.15821T>C 15821 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15821_T/C heter ENSG00000198727 missense_variant Ttc/Ctc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.991) - 6735 m.15823C>T 15823 C T 2 0.000275255 1 0.000137627 7266 0.000412882 MT_15823_C/T homo&heter ENSG00000198727 synonymous_variant ttC/ttT - LOW SNV MT-CYB protein_coding - - - 6736 m.15824A>G 15824 A G 92 0.012661712 0 0.000000000 7266 0.012661712 MT_15824_A/G homo ENSG00000198727 missense_variant Aca/Gca rs28357376 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.61) benign(0) - 6737 m.15828C>T 15828 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15828_C/T heter ENSG00000198727 missense_variant aCa/aTa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.01) benign(0.036) - 6738 m.15832C>T 15832 C T 13 0.001789155 0 0.000000000 7266 0.001789155 MT_15832_C/T homo ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6739 m.15833C>T 15833 C T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_15833_C/T homo ENSG00000198727 synonymous_variant Cta/Tta rs41504845 LOW SNV MT-CYB protein_coding - - likely_benign 6740 m.15836A>G 15836 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15836_A/G homo ENSG00000198727 missense_variant Atc/Gtc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.41) benign(0) - 6741 m.15837T>C 15837 T C 0 0.000000000 2 0.000275255 7266 0.000275255 MT_15837_T/C heter ENSG00000198727 missense_variant aTc/aCc COSV99053419 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.07) benign(0.062) - 6742 m.15839C>T 15839 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15839_C/T homo ENSG00000198727 synonymous_variant Cta/Tta - LOW SNV MT-CYB protein_coding - - - 6743 m.15843T>C 15843 T C 1 0.000137627 2 0.000275255 7266 0.000412882 MT_15843_T/C homo&heter ENSG00000198727 missense_variant aTa/aCa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.02) benign(0.088) - 6744 m.15844A>G 15844 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15844_A/G homo ENSG00000198727 synonymous_variant atA/atG rs1556424675 LOW SNV MT-CYB protein_coding - - - 6745 m.15845C>T 15845 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15845_C/T heter ENSG00000198727 missense_variant Cca/Tca - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.994) - 6746 m.15847A>G 15847 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15847_A/G homo ENSG00000198727 synonymous_variant ccA/ccG - LOW SNV MT-CYB protein_coding - - - 6747 m.15848A>G 15848 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_15848_A/G homo ENSG00000198727 missense_variant Act/Gct rs1057520206 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.13) benign(0) uncertain_significance,benign 6748 m.15849C>T 15849 C T 69 0.009496284 0 0.000000000 7266 0.009496284 MT_15849_C/T homo ENSG00000198727 missense_variant aCt/aTt rs202225494 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.52) benign(0.001) - 6749 m.15850T>C 15850 T C 48 0.006606111 1 0.000137627 7266 0.006743738 MT_15850_T/C homo&heter ENSG00000198727 synonymous_variant acT/acC - LOW SNV MT-CYB protein_coding - - - 6750 m.15851A>G 15851 A G 105 0.014450867 0 0.000000000 7266 0.014450867 MT_15851_A/G homo ENSG00000198727 missense_variant Atc/Gtc rs3094281 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.18) benign(0.001) - 6751 m.15852T>C 15852 T C 9 0.001238646 1 0.000137627 7266 0.001376273 MT_15852_T/C homo&heter ENSG00000198727 missense_variant aTc/aCc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.48) benign(0.035) - 6752 m.15853C>T 15853 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15853_C/T homo ENSG00000198727 synonymous_variant atC/atT - LOW SNV MT-CYB protein_coding - - - 6753 m.15854T>G 15854 T G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15854_T/G homo ENSG00000198727 missense_variant Tcc/Gcc - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.23) probably_damaging(0.928) - 6754 m.15856C>T 15856 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15856_C/T heter ENSG00000198727 synonymous_variant tcC/tcT - LOW SNV MT-CYB protein_coding - - - 6755 m.15857C>T 15857 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_15857_C/T homo ENSG00000198727 synonymous_variant Cta/Tta - LOW SNV MT-CYB protein_coding - - - 6756 m.15860A>G 15860 A G 25 0.003440683 0 0.000000000 7266 0.003440683 MT_15860_A/G homo ENSG00000198727 missense_variant Att/Gtt rs201023973 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.17) benign(0) - 6757 m.15862T>C 15862 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_15862_T/C homo ENSG00000198727 synonymous_variant atT/atC rs386829263 LOW SNV MT-CYB protein_coding - - - 6758 m.15863G>A 15863 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15863_G/A heter ENSG00000198727 missense_variant Gaa/Aaa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) probably_damaging(0.999) - 6759 m.15865A>G 15865 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15865_A/G homo ENSG00000198727 synonymous_variant gaA/gaG rs879154157 LOW SNV MT-CYB protein_coding - - - 6760 m.15870A>T 15870 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15870_A/T homo ENSG00000198727 missense_variant aAa/aTa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0) benign(0.36) - 6761 m.15872A>G 15872 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15872_A/G homo ENSG00000198727 missense_variant Ata/Gta - MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.07) possibly_damaging(0.681) - 6762 m.15874A>G 15874 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_15874_A/G homo ENSG00000198727 synonymous_variant atA/atG - LOW SNV MT-CYB protein_coding - - - 6763 m.15877C>A 15877 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15877_C/A homo ENSG00000198727 synonymous_variant ctC/ctA - LOW SNV MT-CYB protein_coding - - - 6764 m.15877C>T 15877 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15877_C/T homo ENSG00000198727 synonymous_variant ctC/ctT - LOW SNV MT-CYB protein_coding - - - 6765 m.15878A>C 15878 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15878_A/C homo ENSG00000198727 missense_variant Aaa/Caa - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.02) probably_damaging(0.949) - 6766 m.15880A>G 15880 A G 8 0.001101018 0 0.000000000 7266 0.001101018 MT_15880_A/G homo ENSG00000198727 synonymous_variant aaA/aaG - LOW SNV MT-CYB protein_coding - - - 6767 m.15882G>A 15882 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15882_G/A heter ENSG00000198727 stop_gained tGg/tAg - HIGH SNV MT-CYB protein_coding - - - 6768 m.15883G>A 15883 G A 66 0.009083402 0 0.000000000 7266 0.009083402 MT_15883_G/A homo ENSG00000198727 synonymous_variant tgG/tgA rs1556424679 LOW SNV MT-CYB protein_coding - - - 6769 m.15884G>A 15884 G A 51 0.007018993 2 0.000275255 7266 0.007294247 MT_15884_G/A homo&heter ENSG00000198727 missense_variant Gcc/Acc rs527236195 MODERATE SNV MT-CYB protein_coding tolerated_low_confidence(0.37) possibly_damaging(0.494) benign,likely_pathogenic 6770 m.15884G>C 15884 G C 38 0.005229838 1 0.000137627 7266 0.005367465 MT_15884_G/C homo&heter ENSG00000198727 missense_variant Gcc/Ccc rs527236195 MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.03) possibly_damaging(0.675) benign 6771 m.15885C>T 15885 C T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_15885_C/T homo ENSG00000198727 missense_variant gCc/gTc - MODERATE SNV MT-CYB protein_coding deleterious_low_confidence(0.02) possibly_damaging(0.494) - 6772 m.15886C>A 15886 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15886_C/A homo ENSG00000198727 synonymous_variant gcC/gcA - LOW SNV MT-CYB protein_coding - - - 6773 m.15887T>C 15887 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15887_T/C heter ENSG00000198727 incomplete_terminal_codon_variant,coding_sequence_variant T/C - LOW SNV MT-CYB protein_coding - - - 6774 m.15889T>C 15889 T C 36 0.004954583 1 0.000137627 7266 0.005092210 MT_15889_T/C homo&heter ENSG00000210195 non_coding_transcript_exon_variant - rs199833246 MODIFIER SNV MT-TT Mt_tRNA - - - 6775 m.15891C>T 15891 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15891_C/T homo ENSG00000210195 non_coding_transcript_exon_variant - rs1556424681 MODIFIER SNV MT-TT Mt_tRNA - - - 6776 m.15892T>C 15892 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_15892_T/C homo ENSG00000210195 non_coding_transcript_exon_variant - rs1556424683 MODIFIER SNV MT-TT Mt_tRNA - - - 6777 m.15894G>A 15894 G A 6 0.000825764 0 0.000000000 7266 0.000825764 MT_15894_G/A homo ENSG00000210195 non_coding_transcript_exon_variant - rs1569484752 MODIFIER SNV MT-TT Mt_tRNA - - - 6778 m.15895T>C 15895 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15895_T/C heter ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6779 m.15896A>G 15896 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15896_A/G homo ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6780 m.15897G>A 15897 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15897_G/A heter ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6781 m.15900T>C 15900 T C 7 0.000963391 0 0.000000000 7266 0.000963391 MT_15900_T/C homo ENSG00000210195 non_coding_transcript_exon_variant - rs878927456 MODIFIER SNV MT-TT Mt_tRNA - - - 6782 m.15901A>G 15901 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15901_A/G homo ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6783 m.15902A>G 15902 A G 6 0.000825764 1 0.000137627 7266 0.000963391 MT_15902_A/G homo&heter ENSG00000210195 non_coding_transcript_exon_variant - rs1556424685 MODIFIER SNV MT-TT Mt_tRNA - - - 6784 m.15903A>G 15903 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15903_A/G homo ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6785 m.15904C>T 15904 C T 23 0.003165428 0 0.000000000 7266 0.003165428 MT_15904_C/T homo ENSG00000210195 non_coding_transcript_exon_variant - rs35788393 MODIFIER SNV MT-TT Mt_tRNA - - - 6786 m.15905T>C 15905 T C 21 0.002890173 0 0.000000000 7266 0.002890173 MT_15905_T/C homo ENSG00000210195 non_coding_transcript_exon_variant - rs879126276 MODIFIER SNV MT-TT Mt_tRNA - - - 6787 m.15905TA>T 15905 TA T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15906_A/- heter ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER deletion MT-TT Mt_tRNA - - - 6788 m.15907A>G 15907 A G 10 0.001376273 0 0.000000000 7266 0.001376273 MT_15907_A/G homo ENSG00000210195 non_coding_transcript_exon_variant - rs41383248 MODIFIER SNV MT-TT Mt_tRNA - - - 6789 m.15908T>C 15908 T C 19 0.002614919 1 0.000137627 7266 0.002752546 MT_15908_T/C homo&heter ENSG00000210195 non_coding_transcript_exon_variant - rs386829266 MODIFIER SNV MT-TT Mt_tRNA - - - 6790 m.15909A>G 15909 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15909_A/G homo ENSG00000210195 non_coding_transcript_exon_variant - rs1556424690 MODIFIER SNV MT-TT Mt_tRNA - - - 6791 m.15910C>T 15910 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15910_C/T homo ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6792 m.15911A>G 15911 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15911_A/G homo ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6793 m.15913C>T 15913 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15913_C/T homo ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6794 m.15916T>C 15916 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15916_T/C homo ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6795 m.15924A>G 15924 A G 153 0.021056978 4 0.000550509 7266 0.021607487 MT_15924_A/G homo&heter ENSG00000210195 non_coding_transcript_exon_variant - rs193303001 MODIFIER SNV MT-TT Mt_tRNA - - - 6796 m.15926C>A 15926 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15926_C/A homo ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6797 m.15926C>T 15926 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15926_C/T homo ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6798 m.15927G>A 15927 G A 125 0.017203413 3 0.000412882 7266 0.017616295 MT_15927_G/A homo&heter ENSG00000210195 non_coding_transcript_exon_variant - rs193303002 MODIFIER SNV MT-TT Mt_tRNA - - benign,likely_pathogenic 6799 m.15928G>A 15928 G A 113 0.015551885 0 0.000000000 7266 0.015551885 MT_15928_G/A homo ENSG00000210195 non_coding_transcript_exon_variant - rs527236198 MODIFIER SNV MT-TT Mt_tRNA - - likely_pathogenic,benign 6800 m.15928G>T 15928 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15928_G/T homo ENSG00000210195 non_coding_transcript_exon_variant - rs527236198 MODIFIER SNV MT-TT Mt_tRNA - - not_provided 6801 m.15929A>G 15929 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_15929_A/G homo ENSG00000210195 non_coding_transcript_exon_variant - rs878866272 MODIFIER SNV MT-TT Mt_tRNA - - - 6802 m.15930G>A 15930 G A 102 0.014037985 3 0.000412882 7266 0.014450867 MT_15930_G/A homo&heter ENSG00000210195 non_coding_transcript_exon_variant - rs41441949 MODIFIER SNV MT-TT Mt_tRNA - - - 6803 m.15930G>T 15930 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15930_G/T homo ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6804 m.15932T>C 15932 T C 5 0.000688137 1 0.000137627 7266 0.000825764 MT_15932_T/C homo&heter ENSG00000210195 non_coding_transcript_exon_variant - rs527236199 MODIFIER SNV MT-TT Mt_tRNA - - - 6805 m.15935A>G 15935 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15935_A/G homo ENSG00000210195 non_coding_transcript_exon_variant - rs1556424699 MODIFIER SNV MT-TT Mt_tRNA - - - 6806 m.15936A>G 15936 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15936_A/G homo ENSG00000210195 non_coding_transcript_exon_variant - rs1556424701 MODIFIER SNV MT-TT Mt_tRNA - - - 6807 m.15937A>G 15937 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15937_A/G homo ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6808 m.15938C>T 15938 C T 11 0.001513900 0 0.000000000 7266 0.001513900 MT_15938_C/T homo ENSG00000210195 non_coding_transcript_exon_variant - rs200572753 MODIFIER SNV MT-TT Mt_tRNA - - - 6809 m.15939C>CT 15939 C CT 13 0.001789155 0 0.000000000 7266 0.001789155 MT_15940_-/T homo ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER insertion MT-TT Mt_tRNA - - - 6810 m.15939C>T 15939 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15939_C/T homo ENSG00000210195 non_coding_transcript_exon_variant - rs878981265 MODIFIER SNV MT-TT Mt_tRNA - - - 6811 m.15939CT>C 15939 CT C 183 0.025185797 0 0.000000000 7266 0.025185797 MT_15940_T/- homo ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER deletion MT-TT Mt_tRNA - - - 6812 m.15940T>C 15940 T C 15 0.002064410 1 0.000137627 7266 0.002202037 MT_15940_T/C homo&heter ENSG00000210195 non_coding_transcript_exon_variant - rs879197567 MODIFIER SNV MT-TT Mt_tRNA - - - 6813 m.15941T>C 15941 T C 36 0.004954583 0 0.000000000 7266 0.004954583 MT_15941_T/C homo ENSG00000210195 non_coding_transcript_exon_variant - rs193303003 MODIFIER SNV MT-TT Mt_tRNA - - - 6814 m.15942T>C 15942 T C 33 0.004541701 0 0.000000000 7266 0.004541701 MT_15942_T/C homo ENSG00000210195 non_coding_transcript_exon_variant - rs28535186 MODIFIER SNV MT-TT Mt_tRNA - - - 6815 m.15943T>C 15943 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_15943_T/C homo ENSG00000210195 non_coding_transcript_exon_variant - rs527236200 MODIFIER SNV MT-TT Mt_tRNA - - likely_pathogenic,benign 6816 m.15945C>T 15945 C T 1 0.000137627 1 0.000137627 7266 0.000275255 MT_15945_C/T homo&heter ENSG00000210195 non_coding_transcript_exon_variant - rs1556424707 MODIFIER SNV MT-TT Mt_tRNA - - - 6817 m.15946C>T 15946 C T 2 0.000275255 1 0.000137627 7266 0.000412882 MT_15946_C/T homo&heter ENSG00000210195 non_coding_transcript_exon_variant - rs202014122 MODIFIER SNV MT-TT Mt_tRNA - - - 6818 m.15947A>G 15947 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15947_A/G homo ENSG00000210195 non_coding_transcript_exon_variant - rs1556424708 MODIFIER SNV MT-TT Mt_tRNA - - - 6819 m.15948A>G 15948 A G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15948_A/G heter ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6820 m.15949G>A 15949 G A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15949_G/A homo ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6821 m.15950G>A 15950 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15950_G/A homo ENSG00000210195 non_coding_transcript_exon_variant - rs118203890 MODIFIER SNV MT-TT Mt_tRNA - - uncertain_significance,risk_factor 6822 m.15951A>G 15951 A G 57 0.007844756 0 0.000000000 7266 0.007844756 MT_15951_A/G homo ENSG00000210195 non_coding_transcript_exon_variant - rs199993959 MODIFIER SNV MT-TT Mt_tRNA - - - 6823 m.15952C>T 15952 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_15952_C/T homo ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6824 m.15953A>T 15953 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15953_A/T homo ENSG00000210195 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TT Mt_tRNA - - - 6825 m.15954A>C 15954 A C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_15954_A/C homo - intergenic_variant - rs28561372 MODIFIER SNV - - - - - 6826 m.15954A>G 15954 A G 11 0.001513900 0 0.000000000 7266 0.001513900 MT_15954_A/G homo - intergenic_variant - rs28561372 MODIFIER SNV - - - - - 6827 m.15961G>A 15961 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15961_G/A heter ENSG00000210196 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TP Mt_tRNA - - - 6828 m.15965A>G 15965 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15965_A/G homo ENSG00000210196 non_coding_transcript_exon_variant - rs199474700 MODIFIER SNV MT-TP Mt_tRNA - - risk_factor,benign 6829 m.15968T>C 15968 T C 41 0.005642720 2 0.000275255 7266 0.005917974 MT_15968_T/C homo&heter ENSG00000210196 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TP Mt_tRNA - - - 6830 m.15970T>C 15970 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_15970_T/C homo&heter ENSG00000210196 non_coding_transcript_exon_variant - rs375213730 MODIFIER SNV MT-TP Mt_tRNA - - - 6831 m.15972T>C 15972 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_15972_T/C homo ENSG00000210196 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TP Mt_tRNA - - - 6832 m.15977C>T 15977 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15977_C/T heter ENSG00000210196 non_coding_transcript_exon_variant - rs1556424716 MODIFIER SNV MT-TP Mt_tRNA - - - 6833 m.15978C>T 15978 C T 18 0.002477291 2 0.000275255 7266 0.002752546 MT_15978_C/T homo&heter ENSG00000210196 non_coding_transcript_exon_variant - rs201041059 MODIFIER SNV MT-TP Mt_tRNA - - - 6834 m.15983T>C 15983 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_15983_T/C homo ENSG00000210196 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TP Mt_tRNA - - - 6835 m.15984T>C 15984 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_15984_T/C homo ENSG00000210196 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TP Mt_tRNA - - - 6836 m.15986G>A 15986 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_15986_G/A heter ENSG00000210196 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TP Mt_tRNA - - - 6837 m.16000G>A 16000 G A 6 0.000825764 1 0.000137627 7266 0.000963391 MT_16000_G/A homo&heter ENSG00000210196 non_coding_transcript_exon_variant - rs1556424722 MODIFIER SNV MT-TP Mt_tRNA - - - 6838 m.16000G>T 16000 G T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_16000_G/T homo ENSG00000210196 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TP Mt_tRNA - - - 6839 m.16008T>C 16008 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16008_T/C heter ENSG00000210196 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TP Mt_tRNA - - - 6840 m.16009T>C 16009 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16009_T/C heter ENSG00000210196 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TP Mt_tRNA - - - 6841 m.16015T>C 16015 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16015_T/C heter ENSG00000210196 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TP Mt_tRNA - - - 6842 m.16017T>C 16017 T C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_16017_T/C homo ENSG00000210196 non_coding_transcript_exon_variant - rs201864830 MODIFIER SNV MT-TP Mt_tRNA - - - 6843 m.16019C>A 16019 C A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16019_C/A heter ENSG00000210196 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TP Mt_tRNA - - - 6844 m.16020T>C 16020 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16020_T/C heter ENSG00000210196 non_coding_transcript_exon_variant - - MODIFIER SNV MT-TP Mt_tRNA - - - 6845 m.16023G>A 16023 G A 0 0.000000000 2 0.000275255 7266 0.000275255 MT_16023_G/A heter ENSG00000210196 non_coding_transcript_exon_variant - rs55934780 MODIFIER SNV MT-TP Mt_tRNA - - - 6846 m.16026C>T 16026 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16026_C/T heter - intergenic_variant - - MODIFIER SNV - - - - - 6847 m.16027T>C 16027 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16027_T/C heter - intergenic_variant - - MODIFIER SNV - - - - - 6848 m.16034G>A 16034 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16034_G/A heter - intergenic_variant - - MODIFIER SNV - - - - - 6849 m.16035G>A 16035 G A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16035_G/A heter - intergenic_variant - - MODIFIER SNV - - - - - 6850 m.16037A>G 16037 A G 14 0.001926782 0 0.000000000 7266 0.001926782 MT_16037_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 6851 m.16038A>G 16038 A G 16 0.002202037 0 0.000000000 7266 0.002202037 MT_16038_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 6852 m.16042G>A 16042 G A 7 0.000963391 0 0.000000000 7266 0.000963391 MT_16042_G/A homo - intergenic_variant - rs1556424727 MODIFIER SNV - - - - - 6853 m.16048G>A 16048 G A 12 0.001651528 0 0.000000000 7266 0.001651528 MT_16048_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 6854 m.16051A>G 16051 A G 199 0.027387834 3 0.000412882 7266 0.027800716 MT_16051_A/G homo&heter - intergenic_variant - rs117565943 MODIFIER SNV - - - - - 6855 m.16052C>T 16052 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16052_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 6856 m.16053C>G 16053 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16053_C/G homo - intergenic_variant - - MODIFIER SNV - - - - - 6857 m.16058A>T 16058 A T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_16058_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 6858 m.16063T>C 16063 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_16063_T/C homo - intergenic_variant - rs1556424729 MODIFIER SNV - - - - - 6859 m.16065G>A 16065 G A 0 0.000000000 4 0.000550509 7266 0.000550509 MT_16065_G/A heter - intergenic_variant - - MODIFIER SNV - - - - - 6860 m.16066A>G 16066 A G 20 0.002752546 0 0.000000000 7266 0.002752546 MT_16066_A/G homo - intergenic_variant - rs1556424730 MODIFIER SNV - - - - - 6861 m.16067C>T 16067 C T 12 0.001651528 0 0.000000000 7266 0.001651528 MT_16067_C/T homo - intergenic_variant - rs1556424732 MODIFIER SNV - - - - - 6862 m.16068T>C 16068 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16068_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 6863 m.16069C>T 16069 C T 73 0.010046793 0 0.000000000 7266 0.010046793 MT_16069_C/T homo - intergenic_variant - rs147903261 MODIFIER SNV - - - - - 6864 m.16071C>T 16071 C T 12 0.001651528 0 0.000000000 7266 0.001651528 MT_16071_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 6865 m.16073C>T 16073 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16073_C/T heter - intergenic_variant - - MODIFIER SNV - - - - - 6866 m.16075T>C 16075 T C 16 0.002202037 0 0.000000000 7266 0.002202037 MT_16075_T/C homo - intergenic_variant - rs878991048 MODIFIER SNV - - - - - 6867 m.16076C>T 16076 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16076_C/T heter - intergenic_variant - - MODIFIER SNV - - - - - 6868 m.16076CA>C 16076 CA C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16077_A/- homo - intergenic_variant - - MODIFIER deletion - - - - - 6869 m.16079C>T 16079 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_16079_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 6870 m.16080A>G 16080 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16080_A/G homo - intergenic_variant - rs1556424738 MODIFIER SNV - - - - - 6871 m.16082C>T 16082 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_16082_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 6872 m.16083C>T 16083 C T 14 0.001926782 0 0.000000000 7266 0.001926782 MT_16083_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 6873 m.16084G>A 16084 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16084_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 6874 m.16085C>T 16085 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16085_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 6875 m.16086T>C 16086 T C 147 0.020231214 12 0.001651528 7266 0.021882742 MT_16086_T/C homo&heter - intergenic_variant - rs386420030 MODIFIER SNV - - - - - 6876 m.16092T>A 16092 T A 23 0.003165428 0 0.000000000 7266 0.003165428 MT_16092_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 6877 m.16092T>C 16092 T C 211 0.029039361 11 0.001513900 7266 0.030553262 MT_16092_T/C homo&heter - intergenic_variant - rs1556424740 MODIFIER SNV - - - - - 6878 m.16093T>C 16093 T C 457 0.062895679 105 0.014450867 7266 0.077346546 MT_16093_T/C homo&heter - intergenic_variant - rs2853511 MODIFIER SNV - - - - - 6879 m.16093T>G 16093 T G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_16093_T/G homo - intergenic_variant - - MODIFIER SNV - - - - - 6880 m.16094T>C 16094 T C 6 0.000825764 1 0.000137627 7266 0.000963391 MT_16094_T/C homo&heter - intergenic_variant - rs1556424743 MODIFIER SNV - - - - - 6881 m.16095C>T 16095 C T 11 0.001513900 1 0.000137627 7266 0.001651528 MT_16095_C/T homo&heter - intergenic_variant - rs1556424744 MODIFIER SNV - - - - - 6882 m.16097T>C 16097 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16097_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 6883 m.16098A>G 16098 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16098_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 6884 m.16102T>C 16102 T C 2 0.000275255 1 0.000137627 7266 0.000412882 MT_16102_T/C homo&heter - intergenic_variant - rs1569484770 MODIFIER SNV - - - - - 6885 m.16103A>G 16103 A G 0 0.000000000 2 0.000275255 7266 0.000275255 MT_16103_A/G heter - intergenic_variant - - MODIFIER SNV - - - - - 6886 m.16104C>A 16104 C A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_16104_C/A homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 6887 m.16104C>T 16104 C T 11 0.001513900 3 0.000412882 7266 0.001926782 MT_16104_C/T homo&heter - intergenic_variant - rs1569484771 MODIFIER SNV - - - - - 6888 m.16108C>T 16108 C T 61 0.008395266 0 0.000000000 7266 0.008395266 MT_16108_C/T homo - intergenic_variant - rs386829271 MODIFIER SNV - - - - - 6889 m.16111C>A 16111 C A 12 0.001651528 0 0.000000000 7266 0.001651528 MT_16111_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 6890 m.16111C>G 16111 C G 4 0.000550509 1 0.000137627 7266 0.000688137 MT_16111_C/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 6891 m.16111C>T 16111 C T 405 0.055739059 2 0.000275255 7266 0.056014313 MT_16111_C/T homo&heter - intergenic_variant - rs35315169 MODIFIER SNV - - - - - 6892 m.16112C>G 16112 C G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16112_C/G homo - intergenic_variant - - MODIFIER SNV - - - - - 6893 m.16114C>A 16114 C A 66 0.009083402 1 0.000137627 7266 0.009221029 MT_16114_C/A homo&heter - intergenic_variant - rs879157695 MODIFIER SNV - - - - - 6894 m.16114C>G 16114 C G 4 0.000550509 1 0.000137627 7266 0.000688137 MT_16114_C/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 6895 m.16114C>T 16114 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_16114_C/T homo - intergenic_variant - rs879157695 MODIFIER SNV - - - - - 6896 m.16117T>C 16117 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16117_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 6897 m.16119A>G 16119 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16119_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 6898 m.16124T>C 16124 T C 165 0.022708505 6 0.000825764 7266 0.023534269 MT_16124_T/C homo&heter - intergenic_variant - rs386829272 MODIFIER SNV - - - - - 6899 m.16125G>A 16125 G A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_16125_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 6900 m.16126T>C 16126 T C 463 0.063721442 2 0.000275255 7266 0.063996697 MT_16126_T/C homo&heter - intergenic_variant - rs147029798 MODIFIER SNV - - - - - 6901 m.16127A>G 16127 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16127_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 6902 m.16127A>T 16127 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16127_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 6903 m.16129G>A 16129 G A 1405 0.193366364 31 0.004266446 7266 0.197632810 MT_16129_G/A homo&heter - intergenic_variant - rs41534744 MODIFIER SNV - - - - - 6904 m.16129G>C 16129 G C 12 0.001651528 0 0.000000000 7266 0.001651528 MT_16129_G/C homo - intergenic_variant - rs41534744 MODIFIER SNV - - - - - 6905 m.16131T>C 16131 T C 8 0.001101018 2 0.000275255 7266 0.001376273 MT_16131_T/C homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 6906 m.16132A>G 16132 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16132_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 6907 m.16133C>T 16133 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16133_C/T homo - intergenic_variant - rs369248643 MODIFIER SNV - - - - - 6908 m.16134C>T 16134 C T 36 0.004954583 1 0.000137627 7266 0.005092210 MT_16134_C/T homo&heter - intergenic_variant - rs878944072 MODIFIER SNV - - - - - 6909 m.16136T>C 16136 T C 123 0.016928159 0 0.000000000 7266 0.016928159 MT_16136_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 6910 m.16140T>C 16140 T C 299 0.041150564 0 0.000000000 7266 0.041150564 MT_16140_T/C homo - intergenic_variant - rs3134562 MODIFIER SNV - - - - - 6911 m.16141A>G 16141 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16141_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 6912 m.16142C>T 16142 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16142_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 6913 m.16144T>A 16144 T A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16144_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 6914 m.16144T>C 16144 T C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_16144_T/C homo - intergenic_variant - rs41505649 MODIFIER SNV - - - - - 6915 m.16145G>A 16145 G A 163 0.022433251 1 0.000137627 7266 0.022570878 MT_16145_G/A homo&heter - intergenic_variant - rs41419246 MODIFIER SNV - - - - - 6916 m.16146A>G 16146 A G 6 0.000825764 1 0.000137627 7266 0.000963391 MT_16146_A/G homo&heter - intergenic_variant - rs878869807 MODIFIER SNV - - - - - 6917 m.16147C>A 16147 C A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_16147_C/A homo&heter - intergenic_variant - rs2854125 MODIFIER SNV - - - - - 6918 m.16147C>T 16147 C T 26 0.003578310 2 0.000275255 7266 0.003853565 MT_16147_C/T homo&heter - intergenic_variant - rs2854125 MODIFIER SNV - - - - - 6919 m.16148C>T 16148 C T 126 0.017341040 6 0.000825764 7266 0.018166804 MT_16148_C/T homo&heter - intergenic_variant - rs201893071 MODIFIER SNV - - - - - 6920 m.16150C>T 16150 C T 21 0.002890173 2 0.000275255 7266 0.003165428 MT_16150_C/T homo&heter - intergenic_variant - rs879004379 MODIFIER SNV - - - - - 6921 m.16152T>C 16152 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16152_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 6922 m.16153G>A 16153 G A 32 0.004404074 2 0.000275255 7266 0.004679328 MT_16153_G/A homo&heter - intergenic_variant - rs2853512 MODIFIER SNV - - - - - 6923 m.16154T>C 16154 T C 9 0.001238646 1 0.000137627 7266 0.001376273 MT_16154_T/C homo&heter - intergenic_variant - rs1556424767 MODIFIER SNV - - - - - 6924 m.16155A>G 16155 A G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16155_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 6925 m.16156G>A 16156 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16156_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 6926 m.16157T>C 16157 T C 31 0.004266446 1 0.000137627 7266 0.004404074 MT_16157_T/C homo&heter - intergenic_variant - rs386829276 MODIFIER SNV - - - - - 6927 m.16158A>G 16158 A G 11 0.001513900 1 0.000137627 7266 0.001651528 MT_16158_A/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 6928 m.16161T>TG 16161 T TG 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16162_-/G homo - intergenic_variant - - MODIFIER insertion - - - - - 6929 m.16161TA>T 16161 TA T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_16162_A/- homo - intergenic_variant - - MODIFIER deletion - - - - - 6930 m.16162A>G 16162 A G 224 0.030828516 0 0.000000000 7266 0.030828516 MT_16162_A/G homo - intergenic_variant - rs41466049 MODIFIER SNV - - - - - 6931 m.16163A>G 16163 A G 29 0.003991192 1 0.000137627 7266 0.004128819 MT_16163_A/G homo&heter - intergenic_variant - rs41479950 MODIFIER SNV - - - - - 6932 m.16164A>G 16164 A G 135 0.018579686 1 0.000137627 7266 0.018717314 MT_16164_A/G homo&heter - intergenic_variant - rs879051423 MODIFIER SNV - - - - - 6933 m.16164A>T 16164 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16164_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 6934 m.16165A>G 16165 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16165_A/G homo - intergenic_variant - rs1556424777 MODIFIER SNV - - - - - 6935 m.16166A>AC 16166 A AC 7 0.000963391 0 0.000000000 7266 0.000963391 MT_16167_-/C homo - intergenic_variant - - MODIFIER insertion - - - - - 6936 m.16166A>C 16166 A C 6 0.000825764 0 0.000000000 7266 0.000825764 MT_16166_A/C homo - intergenic_variant - - MODIFIER SNV - - - - - 6937 m.16166A>G 16166 A G 35 0.004816956 0 0.000000000 7266 0.004816956 MT_16166_A/G homo - intergenic_variant - rs1556424779 MODIFIER SNV - - - - - 6938 m.16167C>T 16167 C T 33 0.004541701 1 0.000137627 7266 0.004679328 MT_16167_C/T homo&heter - intergenic_variant - rs371419667 MODIFIER SNV - - - - - 6939 m.16168C>T 16168 C T 64 0.008808148 0 0.000000000 7266 0.008808148 MT_16168_C/T homo - intergenic_variant - rs375568603 MODIFIER SNV - - - - - 6940 m.16169C>T 16169 C T 44 0.006055601 3 0.000412882 7266 0.006468483 MT_16169_C/T homo&heter - intergenic_variant - rs878862655 MODIFIER SNV - - - - - 6941 m.16170A>C 16170 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16170_A/C homo - intergenic_variant - - MODIFIER SNV - - - - - 6942 m.16170A>G 16170 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_16170_A/G homo - intergenic_variant - rs879121566 MODIFIER SNV - - - - - 6943 m.16171A>G 16171 A G 13 0.001789155 0 0.000000000 7266 0.001789155 MT_16171_A/G homo - intergenic_variant - rs879250453 MODIFIER SNV - - - - - 6944 m.16172T>C 16172 T C 786 0.108175062 7 0.000963391 7266 0.109138453 MT_16172_T/C homo&heter - intergenic_variant - rs2853817 MODIFIER SNV - - - - - 6945 m.16172T>G 16172 T G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16172_T/G heter - intergenic_variant - - MODIFIER SNV - - - - - 6946 m.16173C>T 16173 C T 29 0.003991192 3 0.000412882 7266 0.004404074 MT_16173_C/T homo&heter - intergenic_variant - rs1556424780 MODIFIER SNV - - - - - 6947 m.16174C>T 16174 C T 39 0.005367465 0 0.000000000 7266 0.005367465 MT_16174_C/T homo - intergenic_variant - rs879124420 MODIFIER SNV - - - - - 6948 m.16175A>C 16175 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16175_A/C homo - intergenic_variant - - MODIFIER SNV - - - - - 6949 m.16175A>G 16175 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_16175_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 6950 m.16176C>G 16176 C G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16176_C/G homo - intergenic_variant - - MODIFIER SNV - - - - - 6951 m.16176C>T 16176 C T 38 0.005229838 1 0.000137627 7266 0.005367465 MT_16176_C/T homo&heter - intergenic_variant - rs377430850 MODIFIER SNV - - - - - 6952 m.16177A>G 16177 A G 5 0.000688137 3 0.000412882 7266 0.001101018 MT_16177_A/G homo&heter - intergenic_variant - rs1556424782 MODIFIER SNV - - - - - 6953 m.16178T>C 16178 T C 23 0.003165428 1 0.000137627 7266 0.003303055 MT_16178_T/C homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 6954 m.16178TC>T 16178 TC T 7 0.000963391 4 0.000550509 7266 0.001513900 MT_16179_C/- homo&heter - intergenic_variant - - MODIFIER deletion - - - - - 6955 m.16178TCA>T 16178 TCA T 2 0.000275255 14 0.001926782 7266 0.002202037 MT_16179_CA/- homo&heter - intergenic_variant - - MODIFIER deletion - - - - - 6956 m.16179C>A 16179 C A 6 0.000825764 0 0.000000000 7266 0.000825764 MT_16179_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 6957 m.16179C>T 16179 C T 58 0.007982384 4 0.000550509 7266 0.008532893 MT_16179_C/T homo&heter - intergenic_variant - rs28509370 MODIFIER SNV - - - - - 6958 m.16179CA>C 16179 CA C 11 0.001513900 168 0.023121387 7266 0.024635288 MT_16180_A/- homo&heter - intergenic_variant - - MODIFIER deletion - - - - - 6959 m.16179CAA>C 16179 CAA C 17 0.002339664 555 0.076383154 7266 0.078722819 MT_16180_AA/- homo&heter - intergenic_variant - rs371240719 MODIFIER deletion - - - - - 6960 m.16180A>C 16180 A C 0 0.000000000 5 0.000688137 7266 0.000688137 MT_16180_A/C heter - intergenic_variant - - MODIFIER SNV - - - - - 6961 m.16180A>G 16180 A G 7 0.000963391 1 0.000137627 7266 0.001101018 MT_16180_A/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 6962 m.16180A>T 16180 A T 1 0.000137627 10 0.001376273 7266 0.001513900 MT_16180_A/T homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 6964 m.16181A>C 16181 A C 22 0.003027801 14 0.001926782 7266 0.004954583 MT_16181_A/C homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 6965 m.16181A>G 16181 A G 10 0.001376273 1 0.000137627 7266 0.001513900 MT_16181_A/G homo&heter - intergenic_variant - rs878888282 MODIFIER SNV - - - - - 6966 m.16181A>T 16181 A T 2 0.000275255 14 0.001926782 7266 0.002202037 MT_16181_A/T homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 7025 m.16194AT>A 16194 AT A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16195_T/- heter - intergenic_variant - - MODIFIER deletion - - - - - 7026 m.16195T>A 16195 T A 1 0.000137627 1 0.000137627 7266 0.000275255 MT_16195_T/A homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 7027 m.16195T>C 16195 T C 3 0.000412882 15 0.002064410 7266 0.002477291 MT_16195_T/C homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 7028 m.16195T>TCCC 16195 T TCCC 0 0.000000000 5 0.000688137 7266 0.000688137 MT_16196_-/CCC heter - intergenic_variant - - MODIFIER insertion - - - - - 7029 m.16195T>TCCCC 16195 T TCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16196_-/CCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 7030 m.16195T>TCCCCC 16195 T TCCCCC 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16196_-/CCCCC heter - intergenic_variant - - MODIFIER insertion - - - - - 7031 m.16195T>TCGC 16195 T TCGC 0 0.000000000 2 0.000275255 7266 0.000275255 MT_16196_-/CGC heter - intergenic_variant - - MODIFIER insertion - - - - - 7032 m.16201C>T 16201 C T 9 0.001238646 0 0.000000000 7266 0.001238646 MT_16201_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7033 m.16203A>G 16203 A G 50 0.006881365 0 0.000000000 7266 0.006881365 MT_16203_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7034 m.16204G>A 16204 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16204_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7035 m.16206A>C 16206 A C 11 0.001513900 0 0.000000000 7266 0.001513900 MT_16206_A/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7036 m.16207A>G 16207 A G 35 0.004816956 0 0.000000000 7266 0.004816956 MT_16207_A/G homo - intergenic_variant - rs386829277 MODIFIER SNV - - - - - 7037 m.16209T>C 16209 T C 158 0.021745114 0 0.000000000 7266 0.021745114 MT_16209_T/C homo - intergenic_variant - rs386829278 MODIFIER SNV - - - - - 7038 m.16212A>G 16212 A G 11 0.001513900 2 0.000275255 7266 0.001789155 MT_16212_A/G homo&heter - intergenic_variant - rs374955668 MODIFIER SNV - - - - - 7039 m.16213G>A 16213 G A 106 0.014588494 5 0.000688137 7266 0.015276631 MT_16213_G/A homo&heter - intergenic_variant - rs1556424801 MODIFIER SNV - - - - - 7040 m.16213G>C 16213 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16213_G/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7041 m.16213G>T 16213 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16213_G/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7042 m.16214C>T 16214 C T 37 0.005092210 2 0.000275255 7266 0.005367465 MT_16214_C/T homo&heter - intergenic_variant - rs368055283 MODIFIER SNV - - - - - 7043 m.16215A>G 16215 A G 23 0.003165428 3 0.000412882 7266 0.003578310 MT_16215_A/G homo&heter - intergenic_variant - rs1556424803 MODIFIER SNV - - - - - 7044 m.16215A>T 16215 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16215_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7045 m.16216A>G 16216 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16216_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7046 m.16217T>C 16217 T C 659 0.090696394 5 0.000688137 7266 0.091384531 MT_16217_T/C homo&heter - intergenic_variant - rs35134837 MODIFIER SNV - - - - - 7047 m.16218C>T 16218 C T 86 0.011835948 1 0.000137627 7266 0.011973576 MT_16218_C/T homo&heter - intergenic_variant - rs386829280 MODIFIER SNV - - - - - 7048 m.16219A>G 16219 A G 28 0.003853565 1 0.000137627 7266 0.003991192 MT_16219_A/G homo&heter - intergenic_variant - rs878960666 MODIFIER SNV - - - - - 7049 m.16220A>C 16220 A C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_16220_A/C homo - intergenic_variant - rs386829281 MODIFIER SNV - - - - - 7050 m.16220A>G 16220 A G 10 0.001376273 1 0.000137627 7266 0.001513900 MT_16220_A/G homo&heter - intergenic_variant - rs386829281 MODIFIER SNV - - - - - 7051 m.16221C>A 16221 C A 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16221_C/A heter - intergenic_variant - rs1556424808 MODIFIER SNV - - - - - 7052 m.16221C>T 16221 C T 18 0.002477291 1 0.000137627 7266 0.002614919 MT_16221_C/T homo&heter - intergenic_variant - rs1556424808 MODIFIER SNV - - - - - 7053 m.16222C>A 16222 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16222_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7054 m.16222C>T 16222 C T 35 0.004816956 1 0.000137627 7266 0.004954583 MT_16222_C/T homo&heter - intergenic_variant - rs386829282 MODIFIER SNV - - - - - 7055 m.16223C>T 16223 C T 4462 0.614093036 4 0.000550509 7266 0.614643545 MT_16223_C/T homo&heter - intergenic_variant - rs2853513 MODIFIER SNV - - - - - 7056 m.16224T>C 16224 T C 73 0.010046793 2 0.000275255 7266 0.010322048 MT_16224_T/C homo&heter - intergenic_variant - rs386420031 MODIFIER SNV - - - - - 7057 m.16227A>G 16227 A G 91 0.012524085 1 0.000137627 7266 0.012661712 MT_16227_A/G homo&heter - intergenic_variant - rs386829285 MODIFIER SNV - - - - - 7058 m.16229T>C 16229 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_16229_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7059 m.16230A>G 16230 A G 67 0.009221029 0 0.000000000 7266 0.009221029 MT_16230_A/G homo - intergenic_variant - rs2853514 MODIFIER SNV - - - - - 7060 m.16230A>T 16230 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16230_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7061 m.16231T>C 16231 T C 81 0.011147812 0 0.000000000 7266 0.011147812 MT_16231_T/C homo - intergenic_variant - rs386829286 MODIFIER SNV - - - - - 7062 m.16232C>A 16232 C A 47 0.006468483 0 0.000000000 7266 0.006468483 MT_16232_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7063 m.16232C>T 16232 C T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_16232_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7064 m.16233A>C 16233 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16233_A/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7065 m.16233A>G 16233 A G 9 0.001238646 0 0.000000000 7266 0.001238646 MT_16233_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7066 m.16234C>T 16234 C T 260 0.035783099 5 0.000688137 7266 0.036471236 MT_16234_C/T homo&heter - intergenic_variant - rs368259300 MODIFIER SNV - - - - - 7067 m.16235A>G 16235 A G 61 0.008395266 1 0.000137627 7266 0.008532893 MT_16235_A/G homo&heter - intergenic_variant - rs376167878 MODIFIER SNV - - - - - 7068 m.16239C>A 16239 C A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16239_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7069 m.16239C>G 16239 C G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16239_C/G homo - intergenic_variant - rs386829287 MODIFIER SNV - - - - - 7070 m.16239C>T 16239 C T 112 0.015414258 2 0.000275255 7266 0.015689513 MT_16239_C/T homo&heter - intergenic_variant - rs386829287 MODIFIER SNV - - - - - 7071 m.16240A>C 16240 A C 10 0.001376273 0 0.000000000 7266 0.001376273 MT_16240_A/C homo - intergenic_variant - rs386829288 MODIFIER SNV - - - - - 7072 m.16240A>G 16240 A G 30 0.004128819 0 0.000000000 7266 0.004128819 MT_16240_A/G homo - intergenic_variant - rs386829288 MODIFIER SNV - - - - - 7073 m.16241A>G 16241 A G 11 0.001513900 1 0.000137627 7266 0.001651528 MT_16241_A/G homo&heter - intergenic_variant - rs1556424819 MODIFIER SNV - - - - - 7074 m.16241A>T 16241 A T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16241_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7075 m.16242C>G 16242 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16242_C/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7076 m.16242C>T 16242 C T 13 0.001789155 2 0.000275255 7266 0.002064410 MT_16242_C/T homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 7077 m.16243T>C 16243 T C 124 0.017065786 1 0.000137627 7266 0.017203413 MT_16243_T/C homo&heter - intergenic_variant - rs386829289 MODIFIER SNV - - - - - 7078 m.16244G>A 16244 G A 10 0.001376273 0 0.000000000 7266 0.001376273 MT_16244_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7079 m.16245C>T 16245 C T 44 0.006055601 0 0.000000000 7266 0.006055601 MT_16245_C/T homo - intergenic_variant - rs1556424820 MODIFIER SNV - - - - - 7080 m.16246A>T 16246 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16246_A/T homo - intergenic_variant - rs386829290 MODIFIER SNV - - - - - 7081 m.16247A>AT 16247 A AT 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16248_-/T homo - intergenic_variant - - MODIFIER insertion - - - - - 7082 m.16247A>G 16247 A G 11 0.001513900 1 0.000137627 7266 0.001651528 MT_16247_A/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 7083 m.16247A>T 16247 A T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16247_A/T heter - intergenic_variant - - MODIFIER SNV - - - - - 7084 m.16248C>T 16248 C T 23 0.003165428 0 0.000000000 7266 0.003165428 MT_16248_C/T homo - intergenic_variant - rs1556424821 MODIFIER SNV - - - - - 7085 m.16249T>A 16249 T A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16249_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7086 m.16249T>C 16249 T C 161 0.022157996 2 0.000275255 7266 0.022433251 MT_16249_T/C homo&heter - intergenic_variant - rs372301309 MODIFIER SNV - - - - - 7087 m.16250C>T 16250 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16250_C/T homo - intergenic_variant - rs879054701 MODIFIER SNV - - - - - 7088 m.16254A>G 16254 A G 21 0.002890173 1 0.000137627 7266 0.003027801 MT_16254_A/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 7089 m.16255G>A 16255 G A 15 0.002064410 0 0.000000000 7266 0.002064410 MT_16255_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7090 m.16255G>C 16255 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16255_G/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7091 m.16256C>A 16256 C A 13 0.001789155 0 0.000000000 7266 0.001789155 MT_16256_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7092 m.16256C>G 16256 C G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16256_C/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7093 m.16256C>T 16256 C T 179 0.024635288 2 0.000275255 7266 0.024910542 MT_16256_C/T homo&heter - intergenic_variant - rs2857289 MODIFIER SNV - - - - - 7094 m.16257C>A 16257 C A 236 0.032480044 0 0.000000000 7266 0.032480044 MT_16257_C/A homo - intergenic_variant - rs376682258 MODIFIER SNV - - - - - 7095 m.16257C>T 16257 C T 14 0.001926782 1 0.000137627 7266 0.002064410 MT_16257_C/T homo&heter - intergenic_variant - rs376682258 MODIFIER SNV - - - - - 7096 m.16257CA>C 16257 CA C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16258_A/- heter - intergenic_variant - - MODIFIER deletion - - - - - 7097 m.16258A>AC 16258 A AC 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16259_-/C homo - intergenic_variant - - MODIFIER insertion - - - - - 7098 m.16258A>C 16258 A C 8 0.001101018 0 0.000000000 7266 0.001101018 MT_16258_A/C homo - intergenic_variant - rs375364184 MODIFIER SNV - - - - - 7099 m.16258A>G 16258 A G 7 0.000963391 0 0.000000000 7266 0.000963391 MT_16258_A/G homo - intergenic_variant - rs375364184 MODIFIER SNV - - - - - 7100 m.16258A>T 16258 A T 4 0.000550509 0 0.000000000 7266 0.000550509 MT_16258_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7101 m.16259C>A 16259 C A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_16259_C/A homo - intergenic_variant - rs1556424830 MODIFIER SNV - - - - - 7102 m.16259C>T 16259 C T 19 0.002614919 2 0.000275255 7266 0.002890173 MT_16259_C/T homo&heter - intergenic_variant - rs1556424830 MODIFIER SNV - - - - - 7103 m.16260C>T 16260 C T 223 0.030690889 3 0.000412882 7266 0.031103771 MT_16260_C/T homo&heter - intergenic_variant - rs373855397 MODIFIER SNV - - - - - 7104 m.16261C>T 16261 C T 543 0.074731627 5 0.000688137 7266 0.075419763 MT_16261_C/T homo&heter - intergenic_variant - rs138126107 MODIFIER SNV - - - - - 7105 m.16262C>T 16262 C T 6 0.000825764 0 0.000000000 7266 0.000825764 MT_16262_C/T homo - intergenic_variant - rs1556424834 MODIFIER SNV - - - - - 7106 m.16263T>C 16263 T C 53 0.007294247 0 0.000000000 7266 0.007294247 MT_16263_T/C homo - intergenic_variant - rs386829294 MODIFIER SNV - - - - - 7107 m.16263T>TC 16263 T TC 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16264_-/C homo - intergenic_variant - - MODIFIER insertion - - - - - 7108 m.16264C>G 16264 C G 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16264_C/G heter - intergenic_variant - - MODIFIER SNV - - - - - 7109 m.16264C>T 16264 C T 152 0.020919350 2 0.000275255 7266 0.021194605 MT_16264_C/T homo&heter - intergenic_variant - rs878922147 MODIFIER SNV - - - - - 7110 m.16265A>C 16265 A C 40 0.005505092 0 0.000000000 7266 0.005505092 MT_16265_A/C homo - intergenic_variant - rs386829295 MODIFIER SNV - - - - - 7111 m.16265A>G 16265 A G 16 0.002202037 1 0.000137627 7266 0.002339664 MT_16265_A/G homo&heter - intergenic_variant - rs386829295 MODIFIER SNV - - - - - 7112 m.16265A>T 16265 A T 24 0.003303055 0 0.000000000 7266 0.003303055 MT_16265_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7113 m.16266C>A 16266 C A 101 0.013900358 0 0.000000000 7266 0.013900358 MT_16266_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7114 m.16266C>G 16266 C G 26 0.003578310 0 0.000000000 7266 0.003578310 MT_16266_C/G homo - intergenic_variant - rs879098011 MODIFIER SNV - - - - - 7115 m.16266C>T 16266 C T 261 0.035920727 5 0.000688137 7266 0.036608863 MT_16266_C/T homo&heter - intergenic_variant - rs879098011 MODIFIER SNV - - - - - 7116 m.16267C>T 16267 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16267_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7117 m.16268C>T 16268 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16268_C/T homo - intergenic_variant - rs1556424835 MODIFIER SNV - - - - - 7118 m.16269A>G 16269 A G 7 0.000963391 1 0.000137627 7266 0.001101018 MT_16269_A/G homo&heter - intergenic_variant - rs1556424837 MODIFIER SNV - - - - - 7119 m.16270C>G 16270 C G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16270_C/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7120 m.16270C>T 16270 C T 250 0.034406826 4 0.000550509 7266 0.034957336 MT_16270_C/T homo&heter - intergenic_variant - rs2857290 MODIFIER SNV - - - - - 7121 m.16271T>C 16271 T C 39 0.005367465 1 0.000137627 7266 0.005505092 MT_16271_T/C homo&heter - intergenic_variant - rs386829296 MODIFIER SNV - - - - - 7122 m.16272A>G 16272 A G 22 0.003027801 0 0.000000000 7266 0.003027801 MT_16272_A/G homo - intergenic_variant - rs1556424843 MODIFIER SNV - - - - - 7123 m.16274G>A 16274 G A 295 0.040600055 3 0.000412882 7266 0.041012937 MT_16274_G/A homo&heter - intergenic_variant - rs144095641 MODIFIER SNV - - - - - 7124 m.16275A>G 16275 A G 5 0.000688137 0 0.000000000 7266 0.000688137 MT_16275_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7125 m.16278C>T 16278 C T 848 0.116707955 5 0.000688137 7266 0.117396091 MT_16278_C/T homo&heter - intergenic_variant - rs41458645 MODIFIER SNV - - - - - 7126 m.16280A>G 16280 A G 2 0.000275255 3 0.000412882 7266 0.000688137 MT_16280_A/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 7127 m.16282C>CA 16282 C CA 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16283_-/A homo - intergenic_variant - - MODIFIER insertion - - - - - 7128 m.16282C>CT 16282 C CT 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16283_-/T homo - intergenic_variant - - MODIFIER insertion - - - - - 7129 m.16284A>G 16284 A G 30 0.004128819 5 0.000688137 7266 0.004816956 MT_16284_A/G homo&heter - intergenic_variant - rs1556424845 MODIFIER SNV - - - - - 7130 m.16286C>A 16286 C A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_16286_C/A homo - intergenic_variant - rs1556424846 MODIFIER SNV - - - - - 7131 m.16286C>G 16286 C G 13 0.001789155 0 0.000000000 7266 0.001789155 MT_16286_C/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7132 m.16286C>T 16286 C T 30 0.004128819 2 0.000275255 7266 0.004404074 MT_16286_C/T homo&heter - intergenic_variant - rs1556424846 MODIFIER SNV - - - - - 7133 m.16287C>A 16287 C A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_16287_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7134 m.16287C>T 16287 C T 53 0.007294247 2 0.000275255 7266 0.007569502 MT_16287_C/T homo&heter - intergenic_variant - rs376279087 MODIFIER SNV - - - - - 7135 m.16288T>C 16288 T C 49 0.006743738 0 0.000000000 7266 0.006743738 MT_16288_T/C homo - intergenic_variant - rs386829301 MODIFIER SNV - - - - - 7136 m.16289A>G 16289 A G 17 0.002339664 3 0.000412882 7266 0.002752546 MT_16289_A/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 7137 m.16290C>A 16290 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16290_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7138 m.16290C>G 16290 C G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16290_C/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7139 m.16290C>T 16290 C T 536 0.073768236 0 0.000000000 7266 0.073768236 MT_16290_C/T homo - intergenic_variant - rs1556424849 MODIFIER SNV - - - - - 7140 m.16291C>A 16291 C A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_16291_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7141 m.16291C>T 16291 C T 197 0.027112579 4 0.000550509 7266 0.027663088 MT_16291_C/T homo&heter - intergenic_variant - rs35302802 MODIFIER SNV - - - - - 7142 m.16292C>A 16292 C A 5 0.000688137 0 0.000000000 7266 0.000688137 MT_16292_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7143 m.16292C>T 16292 C T 152 0.020919350 4 0.000550509 7266 0.021469860 MT_16292_C/T homo&heter - intergenic_variant - rs144417390 MODIFIER SNV - - - - - 7144 m.16292CA>C 16292 CA C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16293_A/- heter - intergenic_variant - - MODIFIER deletion - - - - - 7145 m.16293A>ACT 16293 A ACT 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16294_-/CT homo - intergenic_variant - - MODIFIER insertion - - - - - 7146 m.16293A>C 16293 A C 23 0.003165428 0 0.000000000 7266 0.003165428 MT_16293_A/C homo - intergenic_variant - rs878890610 MODIFIER SNV - - - - - 7147 m.16293A>G 16293 A G 177 0.024360033 2 0.000275255 7266 0.024635288 MT_16293_A/G homo&heter - intergenic_variant - rs878890610 MODIFIER SNV - - - - - 7148 m.16293A>T 16293 A T 28 0.003853565 0 0.000000000 7266 0.003853565 MT_16293_A/T homo - intergenic_variant - rs878890610 MODIFIER SNV - - - - - 7149 m.16294C>G 16294 C G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16294_C/G homo - intergenic_variant - rs140662392 MODIFIER SNV - - - - - 7150 m.16294C>T 16294 C T 414 0.056977704 5 0.000688137 7266 0.057665841 MT_16294_C/T homo&heter - intergenic_variant - rs140662392 MODIFIER SNV - - - - - 7151 m.16295C>G 16295 C G 6 0.000825764 0 0.000000000 7266 0.000825764 MT_16295_C/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7152 m.16295C>T 16295 C T 121 0.016652904 2 0.000275255 7266 0.016928159 MT_16295_C/T homo&heter - intergenic_variant - rs878874012 MODIFIER SNV - - - - - 7153 m.16296C>T 16296 C T 40 0.005505092 1 0.000137627 7266 0.005642720 MT_16296_C/T homo&heter - intergenic_variant - rs879138789 MODIFIER SNV - - - - - 7154 m.16296CT>C 16296 CT C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16297_T/- homo - intergenic_variant - - MODIFIER deletion - - - - - 7155 m.16296CTT>C 16296 CTT C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16297_TT/- homo - intergenic_variant - - MODIFIER deletion - - - - - 7156 m.16297T>A 16297 T A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16297_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7157 m.16297T>C 16297 T C 256 0.035232590 0 0.000000000 7266 0.035232590 MT_16297_T/C homo - intergenic_variant - rs386829303 MODIFIER SNV - - - - - 7158 m.16298T>C 16298 T C 640 0.088081475 3 0.000412882 7266 0.088494357 MT_16298_T/C homo&heter - intergenic_variant - rs148377232 MODIFIER SNV - - - - - 7159 m.16299A>G 16299 A G 46 0.006330856 0 0.000000000 7266 0.006330856 MT_16299_A/G homo - intergenic_variant - rs879021682 MODIFIER SNV - - - - - 7160 m.16300A>G 16300 A G 58 0.007982384 0 0.000000000 7266 0.007982384 MT_16300_A/G homo - intergenic_variant - rs879082592 MODIFIER SNV - - - - - 7161 m.16301C>A 16301 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16301_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7162 m.16301C>G 16301 C G 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16301_C/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7163 m.16301C>T 16301 C T 41 0.005642720 2 0.000275255 7266 0.005917974 MT_16301_C/T homo&heter - intergenic_variant - rs879194775 MODIFIER SNV - - - - - 7164 m.16302A>G 16302 A G 41 0.005642720 2 0.000275255 7266 0.005917974 MT_16302_A/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 7165 m.16303G>A 16303 G A 6 0.000825764 0 0.000000000 7266 0.000825764 MT_16303_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7166 m.16303G>T 16303 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16303_G/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7167 m.16304T>C 16304 T C 863 0.118772364 4 0.000550509 7266 0.119322874 MT_16304_T/C homo&heter - intergenic_variant - rs386829305 MODIFIER SNV - - - - - 7168 m.16304T>G 16304 T G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16304_T/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7169 m.16305A>G 16305 A G 4 0.000550509 1 0.000137627 7266 0.000688137 MT_16305_A/G homo&heter - intergenic_variant - rs1556424858 MODIFIER SNV - - - - - 7170 m.16305A>T 16305 A T 7 0.000963391 0 0.000000000 7266 0.000963391 MT_16305_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7171 m.16309A>G 16309 A G 263 0.036195981 4 0.000550509 7266 0.036746491 MT_16309_A/G homo&heter - intergenic_variant - rs373517769 MODIFIER SNV - - - - - 7172 m.16310G>A 16310 G A 4 0.000550509 0 0.000000000 7266 0.000550509 MT_16310_G/A homo - intergenic_variant - rs878932546 MODIFIER SNV - - - - - 7173 m.16311T>C 16311 T C 1121 0.154280209 21 0.002890173 7266 0.157170383 MT_16311_T/C homo&heter - intergenic_variant - rs34799580 MODIFIER SNV - - - - - 7174 m.16311T>G 16311 T G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16311_T/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7175 m.16312A>G 16312 A G 12 0.001651528 1 0.000137627 7266 0.001789155 MT_16312_A/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 7176 m.16316A>G 16316 A G 105 0.014450867 0 0.000000000 7266 0.014450867 MT_16316_A/G homo - intergenic_variant - rs1556424861 MODIFIER SNV - - - - - 7177 m.16317A>C 16317 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16317_A/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7178 m.16317A>G 16317 A G 2 0.000275255 1 0.000137627 7266 0.000412882 MT_16317_A/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 7179 m.16317A>T 16317 A T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_16317_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7180 m.16318A>C 16318 A C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16318_A/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7181 m.16318A>G 16318 A G 20 0.002752546 2 0.000275255 7266 0.003027801 MT_16318_A/G homo&heter - intergenic_variant - rs879067317 MODIFIER SNV - - - - - 7182 m.16318A>T 16318 A T 31 0.004266446 0 0.000000000 7266 0.004266446 MT_16318_A/T homo - intergenic_variant - rs879067317 MODIFIER SNV - - - - - 7183 m.16319G>A 16319 G A 816 0.112303881 2 0.000275255 7266 0.112579136 MT_16319_G/A homo&heter - intergenic_variant - rs35105996 MODIFIER SNV - - - - - 7184 m.16320C>T 16320 C T 190 0.026149188 0 0.000000000 7266 0.026149188 MT_16320_C/T homo - intergenic_variant - rs62581338 MODIFIER SNV - - - - - 7185 m.16322AT>A 16322 AT A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16323_T/- homo - intergenic_variant - - MODIFIER deletion - - - - - 7186 m.16323T>C 16323 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16323_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7187 m.16324T>C 16324 T C 21 0.002890173 0 0.000000000 7266 0.002890173 MT_16324_T/C homo - intergenic_variant - rs1556424863 MODIFIER SNV - - - - - 7188 m.16325T>C 16325 T C 206 0.028351225 1 0.000137627 7266 0.028488852 MT_16325_T/C homo&heter - intergenic_variant - rs35452858 MODIFIER SNV - - - - - 7189 m.16326A>G 16326 A G 4 0.000550509 0 0.000000000 7266 0.000550509 MT_16326_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7190 m.16327C>A 16327 C A 7 0.000963391 0 0.000000000 7266 0.000963391 MT_16327_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7191 m.16327C>T 16327 C T 285 0.039223782 2 0.000275255 7266 0.039499037 MT_16327_C/T homo&heter - intergenic_variant - rs41355449 MODIFIER SNV - - - - - 7192 m.16328C>T 16328 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16328_C/T homo - intergenic_variant - rs1556424865 MODIFIER SNV - - - - - 7193 m.16329G>A 16329 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16329_G/A homo - intergenic_variant - rs879032205 MODIFIER SNV - - - - - 7194 m.16330T>C 16330 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16330_T/C homo - intergenic_variant - rs386829307 MODIFIER SNV - - - - - 7195 m.16335A>G 16335 A G 98 0.013487476 4 0.000550509 7266 0.014037985 MT_16335_A/G homo&heter - intergenic_variant - rs386829308 MODIFIER SNV - - - - - 7196 m.16336G>A 16336 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16336_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7197 m.16338A>G 16338 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16338_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7198 m.16342T>C 16342 T C 11 0.001513900 0 0.000000000 7266 0.001513900 MT_16342_T/C homo - intergenic_variant - rs878900150 MODIFIER SNV - - - - - 7199 m.16343A>C 16343 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16343_A/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7200 m.16343A>G 16343 A G 25 0.003440683 0 0.000000000 7266 0.003440683 MT_16343_A/G homo - intergenic_variant - rs374065731 MODIFIER SNV - - - - - 7201 m.16344C>T 16344 C T 33 0.004541701 0 0.000000000 7266 0.004541701 MT_16344_C/T homo - intergenic_variant - rs141667876 MODIFIER SNV - - - - - 7202 m.16346G>A 16346 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16346_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7203 m.16346G>C 16346 G C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16346_G/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7204 m.16348C>T 16348 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16348_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7205 m.16352T>C 16352 T C 47 0.006468483 0 0.000000000 7266 0.006468483 MT_16352_T/C homo - intergenic_variant - rs1556424871 MODIFIER SNV - - - - - 7206 m.16353C>T 16353 C T 26 0.003578310 0 0.000000000 7266 0.003578310 MT_16353_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7207 m.16354C>A 16354 C A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16354_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7208 m.16354C>T 16354 C T 46 0.006330856 1 0.000137627 7266 0.006468483 MT_16354_C/T homo&heter - intergenic_variant - rs878897391 MODIFIER SNV - - - - - 7209 m.16355C>A 16355 C A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16355_C/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7210 m.16355C>T 16355 C T 154 0.021194605 5 0.000688137 7266 0.021882742 MT_16355_C/T homo&heter - intergenic_variant - rs138576863 MODIFIER SNV - - - - - 7211 m.16356T>C 16356 T C 82 0.011285439 1 0.000137627 7266 0.011423066 MT_16356_T/C homo&heter - intergenic_variant - rs62581340 MODIFIER SNV - - - - - 7212 m.16357T>C 16357 T C 91 0.012524085 0 0.000000000 7266 0.012524085 MT_16357_T/C homo - intergenic_variant - rs370567324 MODIFIER SNV - - - - - 7213 m.16359T>C 16359 T C 14 0.001926782 0 0.000000000 7266 0.001926782 MT_16359_T/C homo - intergenic_variant - rs879000501 MODIFIER SNV - - - - - 7214 m.16360C>T 16360 C T 96 0.013212221 2 0.000275255 7266 0.013487476 MT_16360_C/T homo&heter - intergenic_variant - rs117017250 MODIFIER SNV - - - - - 7215 m.16361G>A 16361 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16361_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7216 m.16362T>C 16362 T C 2297 0.316129920 7 0.000963391 7266 0.317093311 MT_16362_T/C homo&heter - intergenic_variant - rs62581341 MODIFIER SNV - - - - - 7217 m.16365C>T 16365 C T 5 0.000688137 0 0.000000000 7266 0.000688137 MT_16365_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7218 m.16366C>T 16366 C T 5 0.000688137 2 0.000275255 7266 0.000963391 MT_16366_C/T homo&heter - intergenic_variant - rs879032397 MODIFIER SNV - - - - - 7219 m.16368T>C 16368 T C 45 0.006193229 3 0.000412882 7266 0.006606111 MT_16368_T/C homo&heter - intergenic_variant - rs1556424875 MODIFIER SNV - - - - - 7220 m.16372T>A 16372 T A 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16372_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7221 m.16380C>T 16380 C T 19 0.002614919 1 0.000137627 7266 0.002752546 MT_16380_C/T homo&heter - intergenic_variant - rs878952395 MODIFIER SNV - - - - - 7222 m.16381T>C 16381 T C 13 0.001789155 0 0.000000000 7266 0.001789155 MT_16381_T/C homo - intergenic_variant - rs1556424876 MODIFIER SNV - - - - - 7223 m.16390G>A 16390 G A 487 0.067024498 7 0.000963391 7266 0.067987889 MT_16390_G/A homo&heter - intergenic_variant - rs41378955 MODIFIER SNV - - - - - 7224 m.16390G>T 16390 G T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16390_G/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7225 m.16391G>A 16391 G A 21 0.002890173 2 0.000275255 7266 0.003165428 MT_16391_G/A homo&heter - intergenic_variant - rs869031877 MODIFIER SNV - - - - - 7226 m.16392T>C 16392 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16392_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7227 m.16394C>T 16394 C T 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16394_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7228 m.16395C>T 16395 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16395_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7229 m.16398G>A 16398 G A 10 0.001376273 0 0.000000000 7266 0.001376273 MT_16398_G/A homo - intergenic_variant - rs1556424878 MODIFIER SNV - - - - - 7230 m.16399A>G 16399 A G 193 0.026562070 3 0.000412882 7266 0.026974952 MT_16399_A/G homo&heter - intergenic_variant - rs139001869 MODIFIER SNV - - - - - 7231 m.16400C>T 16400 C T 21 0.002890173 0 0.000000000 7266 0.002890173 MT_16400_C/T homo - intergenic_variant - rs1556424881 MODIFIER SNV - - - - - 7232 m.16422T>C 16422 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16422_T/C homo - intergenic_variant - rs1569484813 MODIFIER SNV - - - - - 7233 m.16424T>C 16424 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16424_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7234 m.16428G>A 16428 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16428_G/A homo - intergenic_variant - rs1556424883 MODIFIER SNV - - - - - 7235 m.16429C>T 16429 C T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16429_C/T homo - intergenic_variant - rs1556424884 MODIFIER SNV - - - - - 7236 m.16430A>G 16430 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16430_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7237 m.16437T>C 16437 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_16437_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7238 m.16438G>A 16438 G A 12 0.001651528 2 0.000275255 7266 0.001926782 MT_16438_G/A homo&heter - intergenic_variant - rs878937079 MODIFIER SNV - - - - - 7239 m.16440T>C 16440 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16440_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7240 m.16443T>C 16443 T C 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16443_T/C homo - intergenic_variant - rs371960162 MODIFIER SNV - - - - - 7241 m.16445T>C 16445 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_16445_T/C homo - intergenic_variant - rs1556424885 MODIFIER SNV - - - - - 7242 m.16448T>C 16448 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16448_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7243 m.16452T>C 16452 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16452_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7244 m.16463A>G 16463 A G 54 0.007431874 0 0.000000000 7266 0.007431874 MT_16463_A/G homo - intergenic_variant - rs878856034 MODIFIER SNV - - - - - 7245 m.16465C>T 16465 C T 27 0.003715937 3 0.000412882 7266 0.004128819 MT_16465_C/T homo&heter - intergenic_variant - rs1556424888 MODIFIER SNV - - - - - 7246 m.16466A>C 16466 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16466_A/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7247 m.16467C>T 16467 C T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16467_C/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7248 m.16468T>C 16468 T C 15 0.002064410 0 0.000000000 7266 0.002064410 MT_16468_T/C homo - intergenic_variant - rs879224782 MODIFIER SNV - - - - - 7249 m.16470G>A 16470 G A 30 0.004128819 0 0.000000000 7266 0.004128819 MT_16470_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7250 m.16471G>A 16471 G A 31 0.004266446 0 0.000000000 7266 0.004266446 MT_16471_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7251 m.16471G>C 16471 G C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16471_G/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7252 m.16472G>C 16472 G C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16472_G/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7253 m.16473G>A 16473 G A 30 0.004128819 0 0.000000000 7266 0.004128819 MT_16473_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7254 m.16476A>G 16476 A G 3 0.000412882 0 0.000000000 7266 0.000412882 MT_16476_A/G homo - intergenic_variant - - MODIFIER SNV - - - - - 7255 m.16476A>T 16476 A T 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16476_A/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7256 m.16482A>G 16482 A G 20 0.002752546 0 0.000000000 7266 0.002752546 MT_16482_A/G homo - intergenic_variant - rs878935154 MODIFIER SNV - - - - - 7257 m.16483G>A 16483 G A 8 0.001101018 0 0.000000000 7266 0.001101018 MT_16483_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7258 m.16484T>TA 16484 T TA 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16485_-/A homo - intergenic_variant - - MODIFIER insertion - - - - - 7259 m.16485G>A 16485 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16485_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7260 m.16485G>T 16485 G T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16485_G/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7261 m.16486A>C 16486 A C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16486_A/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7262 m.16488C>T 16488 C T 5 0.000688137 1 0.000137627 7266 0.000825764 MT_16488_C/T homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 7263 m.16489T>C 16489 T C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16489_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7264 m.16490G>A 16490 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16490_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7265 m.16496G>A 16496 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16496_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7266 m.16497A>G 16497 A G 79 0.010872557 5 0.000688137 7266 0.011560694 MT_16497_A/G homo&heter - intergenic_variant - rs376846509 MODIFIER SNV - - - - - 7267 m.16502T>C 16502 T C 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16502_T/C heter - intergenic_variant - - MODIFIER SNV - - - - - 7268 m.16505T>C 16505 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16505_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7269 m.16509T>C 16509 T C 4 0.000550509 0 0.000000000 7266 0.000550509 MT_16509_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7270 m.16512T>C 16512 T C 3 0.000412882 1 0.000137627 7266 0.000550509 MT_16512_T/C homo&heter - intergenic_variant - rs373943637 MODIFIER SNV - - - - - 7271 m.16516G>A 16516 G A 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16516_G/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7272 m.16518G>T 16518 G T 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16518_G/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7273 m.16519T>A 16519 T A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16519_T/A homo - intergenic_variant - - MODIFIER SNV - - - - - 7274 m.16519T>C 16519 T C 4040 0.556014313 14 0.001926782 7266 0.557941096 MT_16519_T/C homo&heter - intergenic_variant - rs3937033 MODIFIER SNV - - - - - 7275 m.16523A>G 16523 A G 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16523_A/G homo - intergenic_variant - rs1556424897 MODIFIER SNV - - - - - 7276 m.16524A>C 16524 A C 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16524_A/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7277 m.16524A>G 16524 A G 15 0.002064410 1 0.000137627 7266 0.002202037 MT_16524_A/G homo&heter - intergenic_variant - rs1556424898 MODIFIER SNV - - - - - 7278 m.16525A>G 16525 A G 8 0.001101018 4 0.000550509 7266 0.001651528 MT_16525_A/G homo&heter - intergenic_variant - - MODIFIER SNV - - - - - 7279 m.16526G>A 16526 G A 67 0.009221029 0 0.000000000 7266 0.009221029 MT_16526_G/A homo - intergenic_variant - rs386829315 MODIFIER SNV - - - - - 7280 m.16526G>T 16526 G T 8 0.001101018 0 0.000000000 7266 0.001101018 MT_16526_G/T homo - intergenic_variant - - MODIFIER SNV - - - - - 7281 m.16527C>T 16527 C T 86 0.011835948 4 0.000550509 7266 0.012386457 MT_16527_C/T homo&heter - intergenic_variant - rs370705831 MODIFIER SNV - - - - - 7282 m.16537C>T 16537 C T 0 0.000000000 1 0.000137627 7266 0.000137627 MT_16537_C/T heter - intergenic_variant - - MODIFIER SNV - - - - - 7283 m.16540C>T 16540 C T 0 0.000000000 3 0.000412882 7266 0.000412882 MT_16540_C/T heter - intergenic_variant - - MODIFIER SNV - - - - - 7284 m.16544T>C 16544 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16544_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7285 m.16555T>C 16555 T C 1 0.000137627 0 0.000000000 7266 0.000137627 MT_16555_T/C homo - intergenic_variant - - MODIFIER SNV - - - - - 7286 m.16566G>A 16566 G A 2 0.000275255 0 0.000000000 7266 0.000275255 MT_16566_G/A homo - intergenic_variant - - MODIFIER SNV - - - - -