variant_id string | protein_id string | pos1 int32 | wt_aa string | mut_aa string | seq_len int32 | GeneSymbol string | VariationID int64 | label int8 | split string | source string | stars float32 | cluster string | mut_seq_override string |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NP_006525.2_P559S | NP_006525.2 | 559 | P | S | 1,420 | NCOA3 | 775,436 | 0 | test | existing | 2 | NP_003734.3 | null |
NP_653213.6_G881R | NP_653213.6 | 881 | G | R | 2,211 | LOXHD1 | 1,875,098 | 1 | test | existing | 2 | NP_653213.6 | null |
NP_064551.3_G180V | NP_064551.3 | 180 | G | V | 725 | MCCC1 | 1,458,456 | 1 | test | existing | 2 | NP_001280202.1 | null |
NP_000268.1_E78K | NP_000268.1 | 78 | E | K | 452 | PAH | 102,636 | 1 | test | existing | 3 | NP_004170.1 | null |
NP_000073.1_D266A | NP_000073.1 | 266 | D | A | 396 | ERCC8 | 973,767 | 1 | test | existing | 1 | NP_000073.1 | null |
NP_057240.3_R586Q | NP_057240.3 | 586 | R | Q | 643 | MTMR2 | 543,468 | 0 | test | existing | 2 | NP_056273.2 | null |
NP_000391.1_R666W | NP_000391.1 | 666 | R | W | 760 | ERCC2 | 1,415,975 | 1 | test | existing | 2 | NP_000391.1 | null |
NP_056303.3_G89R | NP_056303.3 | 89 | G | R | 385 | PNKD | 334,310 | 0 | test | existing | 2 | NP_056303.3 | null |
NP_000797.2_E446G | NP_000797.2 | 446 | E | G | 456 | GABRA1 | 833,667 | 0 | test | existing | 1 | NP_068712.1 | null |
NP_006454.1_T313I | NP_006454.1 | 313 | T | I | 424 | STAMBP | 420,170 | 1 | test | existing | 1 | NP_006454.1 | null |
NP_078941.2_G237D | NP_078941.2 | 237 | G | D | 514 | TBL1XR1 | 917,885 | 1 | test | existing | 1 | NP_078941.2 | null |
NP_003602.1_M159T | NP_003602.1 | 159 | M | T | 1,012 | OFD1 | 702,488 | 0 | test | existing | 2 | NP_003602.1 | null |
NP_000381.1_N601S | NP_000381.1 | 601 | N | S | 653 | CHM | 698,222 | 0 | test | existing | 2 | NP_001368782.1 | null |
NP_001153605.1_P782L | NP_001153605.1 | 782 | P | L | 951 | KCNQ5 | 2,179,950 | 0 | test | existing | 2 | NP_001153605.1 | null |
NP_000414.2_V634M | NP_000414.2 | 634 | V | M | 639 | null | null | 0 | test | existing | null | NP_004684.2 | null |
NP_002046.1_E69K | NP_002046.1 | 69 | E | K | 432 | GFAP | 190,333 | 1 | test | existing | 2 | NP_116116.1 | null |
NP_000424.2_V297A | NP_000424.2 | 297 | V | A | 526 | NCF2 | 281,319 | 0 | test | existing | 2 | NP_006638.1 | null |
NP_056374.2_K460R | NP_056374.2 | 460 | K | R | 1,596 | SETBP1 | 2,158,653 | 0 | test | existing | 1 | NP_056374.2 | null |
NP_004251.4_P793L | NP_004251.4 | 793 | P | L | 1,208 | RECQL4 | 1,178,690 | 0 | test | existing | 1 | NP_004251.4 | null |
NP_071445.1_A660G | NP_071445.1 | 660 | A | G | 1,040 | null | null | 0 | test | existing | null | NP_006083.1 | null |
NP_001369746.2_L235R | NP_001369746.2 | 235 | L | R | 476 | null | null | 0 | test | existing | null | NP_001369746.2 | null |
NP_001035197.1_S727N | NP_001035197.1 | 727 | S | N | 1,453 | null | null | 0 | test | existing | null | NP_001035197.1 | null |
NP_068761.4_P1031R | NP_068761.4 | 1,031 | P | R | 1,133 | TRAPPC11 | 448,698 | 0 | test | existing | 2 | NP_951008.1 | null |
NP_476429.2_R375G | NP_476429.2 | 375 | R | G | 628 | KRT3 | 1,665,660 | 0 | test | existing | 2 | NP_004684.2 | null |
NP_000797.2_R214H | NP_000797.2 | 214 | R | H | 456 | GABRA1 | 265,162 | 1 | test | existing | 2 | NP_068712.1 | null |
NP_001017995.1_S883G | NP_001017995.1 | 883 | S | G | 911 | SH3PXD2B | 743,206 | 0 | test | existing | 2 | NP_001017995.1 | null |
NP_000534.3_Y369H | NP_000534.3 | 369 | Y | H | 631 | SMPD1 | 992,700 | 1 | test | existing | 1 | NP_000534.3 | null |
NP_004362.2_Q1051E | NP_004362.2 | 1,051 | Q | E | 1,224 | null | null | 0 | test | existing | null | NP_004362.2 | null |
NP_004510.1_G723E | NP_004510.1 | 723 | G | E | 872 | KCNQ3 | 138,050 | 0 | test | existing | 2 | NP_001191753.1 | null |
NP_005207.3_R298Q | NP_005207.3 | 298 | R | Q | 439 | DDOST | 295,113 | 0 | test | existing | 2 | NP_005207.3 | null |
NP_066264.4_R89G | NP_066264.4 | 89 | R | G | 630 | CHAT | 806,470 | 1 | test | existing | 2 | NP_001333475.2 | null |
NP_009193.2_T154A | NP_009193.2 | 154 | T | A | 189 | PARK7 | 1,119,998 | 1 | test | existing | 1 | NP_009193.2 | null |
NP_001866.2_T924S | NP_001866.2 | 924 | T | S | 1,500 | CPS1 | 703,102 | 0 | test | existing | 1 | NP_001866.2 | null |
NP_057457.1_R156S | NP_057457.1 | 156 | R | S | 414 | null | null | 0 | test | existing | null | NP_057457.1 | null |
NP_004378.1_A119S | NP_004378.1 | 119 | A | S | 324 | NKX2-5 | 9,018 | 0 | test | existing | 2 | NP_001129743.2 | null |
NP_001258750.1_E177K | NP_001258750.1 | 177 | E | K | 219 | TREM2 | 356,674 | 0 | test | existing | 2 | NP_001258750.1 | null |
NP_000780.1_R1279Q | NP_000780.1 | 1,279 | R | Q | 1,306 | ACE | 256,807 | 0 | test | existing | 2 | NP_001369629.1 | null |
NP_004966.1_F416L | NP_004966.1 | 416 | F | L | 858 | KCNB1 | 633,635 | 1 | test | existing | 2 | NP_004966.1 | null |
NP_003150.1_H127R | NP_003150.1 | 127 | H | R | 1,030 | CDKL5 | 143,818 | 1 | test | existing | 2 | NP_001310218.1 | null |
NP_000273.2_Q293E | NP_000273.2 | 293 | Q | E | 728 | null | null | 1 | test | existing | null | NP_000273.2 | null |
NP_056375.2_F182L | NP_056375.2 | 182 | F | L | 960 | null | null | 0 | test | existing | null | NP_056375.2 | null |
NP_001289.1_S401P | NP_001289.1 | 401 | S | P | 694 | CNGA3 | 1,444,626 | 1 | test | existing | 2 | NP_001032406.1 | null |
NP_004362.2_E863Q | NP_004362.2 | 863 | E | Q | 1,224 | COPA | 1,895,530 | 0 | test | existing | 1 | NP_004362.2 | null |
NP_000240.1_L292P | NP_000240.1 | 292 | L | P | 756 | MLH1 | 90,404 | 1 | test | existing | 2 | NP_001341549.1 | null |
NP_001181939.1_S431L | NP_001181939.1 | 431 | S | L | 556 | GRHL3 | 1,611,093 | 0 | test | existing | 2 | NP_001181939.1 | null |
NP_056080.1_V131E | NP_056080.1 | 131 | V | E | 733 | SATB2 | 420,691 | 1 | test | existing | 1 | NP_056080.1 | null |
NP_064551.3_R444H | NP_064551.3 | 444 | R | H | 725 | MCCC1 | 203,796 | 1 | test | existing | 2 | NP_001280202.1 | null |
NP_000483.3_R560T | NP_000483.3 | 560 | R | T | 1,480 | CFTR | 7,113 | 1 | test | existing | 4 | NP_005836.2 | null |
NP_000052.1_R288W | NP_000052.1 | 288 | R | W | 659 | BTK | 11,366 | 1 | test | existing | 2 | NP_005537.3 | null |
NP_982301.1_S151L | NP_982301.1 | 151 | S | L | 461 | null | null | 0 | test | existing | null | NP_982301.1 | null |
NP_003916.1_S123L | NP_003916.1 | 123 | S | L | 580 | MBD4 | 1,338,160 | 0 | test | existing | 2 | NP_001263201.1 | null |
NP_056374.2_E1352K | NP_056374.2 | 1,352 | E | K | 1,596 | SETBP1 | 1,389,169 | 0 | test | existing | 1 | NP_056374.2 | null |
NP_000527.2_M443I | NP_000527.2 | 443 | M | I | 527 | RAG2 | 496,627 | 1 | test | existing | 1 | NP_000527.2 | null |
NP_000527.2_G32V | NP_000527.2 | 32 | G | V | 527 | null | null | 1 | test | existing | null | NP_000527.2 | null |
NP_003051.1_P46S | NP_003051.1 | 46 | P | S | 557 | SLC22A5 | 193,250 | 1 | test | existing | 2 | NP_003050.2 | null |
NP_055134.2_S402F | NP_055134.2 | 402 | S | F | 911 | LEMD3 | 883,454 | 0 | test | existing | 2 | NP_055134.2 | null |
NP_003051.1_V446F | NP_003051.1 | 446 | V | F | 557 | SLC22A5 | 1,424,767 | 1 | test | existing | 2 | NP_003050.2 | null |
NP_036234.3_S608F | NP_036234.3 | 608 | S | F | 1,566 | RERE | 2,336,654 | 0 | test | existing | 1 | NP_036234.3 | null |
NP_079492.2_P343L | NP_079492.2 | 343 | P | L | 417 | WNT10A | 1,413,070 | 1 | test | existing | 1 | NP_478679.1 | null |
NP_115484.2_P366L | NP_115484.2 | 366 | P | L | 888 | SEMA6B | 2,348,795 | 0 | test | existing | 1 | NP_115484.2 | null |
NP_004637.1_E246K | NP_004637.1 | 246 | E | K | 1,241 | null | null | 0 | test | existing | null | NP_004637.1 | null |
NP_076984.2_G275D | NP_076984.2 | 275 | G | D | 526 | ALG8 | 2,563 | 1 | test | existing | 1 | NP_076984.2 | null |
NP_997235.3_R400H | NP_997235.3 | 400 | R | H | 525 | CYP4V2 | 39,254 | 1 | test | existing | 2 | NP_835235.1 | null |
NP_000268.1_T278I | NP_000268.1 | 278 | T | I | 452 | PAH | 102,863 | 1 | test | existing | 3 | NP_004170.1 | null |
NP_000780.1_R1286H | NP_000780.1 | 1,286 | R | H | 1,306 | null | null | 0 | test | existing | null | NP_001369629.1 | null |
NP_004510.1_A375T | NP_004510.1 | 375 | A | T | 872 | KCNQ3 | 1,067,624 | 1 | test | existing | 1 | NP_001191753.1 | null |
NP_000268.1_R420G | NP_000268.1 | 420 | R | G | 452 | PAH | 2,421,739 | 1 | test | existing | 2 | NP_004170.1 | null |
NP_001356355.1_V182L | NP_001356355.1 | 182 | V | L | 885 | KMT5B | 2,502,481 | 1 | test | existing | 1 | NP_001356355.1 | null |
NP_005948.3_R68G | NP_005948.3 | 68 | R | G | 656 | MTHFR | 187,869 | 1 | test | existing | 2 | NP_005948.3 | null |
NP_001258750.1_S183C | NP_001258750.1 | 183 | S | C | 219 | TREM2 | 907,356 | 0 | test | existing | 2 | NP_001258750.1 | null |
NP_003156.1_G272R | NP_003156.1 | 272 | G | R | 603 | STXBP1 | 1,017,158 | 0 | test | existing | 1 | NP_001361243.1 | null |
NP_006256.1_L522V | NP_006256.1 | 522 | L | V | 631 | RAD21 | 1,775,332 | 0 | test | existing | 2 | NP_001130038.2 | null |
NP_443077.1_R191P | NP_443077.1 | 191 | R | P | 250 | MMAB | 2,501,701 | 1 | test | existing | 1 | NP_443077.1 | null |
NP_742105.1_Y562N | NP_742105.1 | 562 | Y | N | 872 | KCNQ2 | 2,001,199 | 1 | test | existing | 2 | NP_001191753.1 | null |
NP_000483.3_N1303I | NP_000483.3 | 1,303 | N | I | 1,480 | CFTR | 53,846 | 1 | test | existing | 2 | NP_005836.2 | null |
NP_000466.2_E52A | NP_000466.2 | 52 | E | A | 470 | NR0B1 | 854,941 | 0 | test | existing | 1 | NP_000466.2 | null |
NP_003150.1_Y86D | NP_003150.1 | 86 | Y | D | 1,030 | CDKL5 | 1,067,592 | 1 | test | existing | 1 | NP_001310218.1 | null |
NP_112190.2_A135V | NP_112190.2 | 135 | A | V | 546 | CDT1 | 128,676 | 0 | test | existing | 2 | NP_112190.2 | null |
NP_068712.1_A305D | NP_068712.1 | 305 | A | D | 473 | GABRB3 | 450,287 | 1 | test | existing | 1 | NP_068712.1 | null |
NP_000491.4_R427C | NP_000491.4 | 427 | R | C | 495 | CYP21A2 | 585,748 | 1 | test | existing | 2 | NP_000763.1 | null |
NP_001273540.1_E679D | NP_001273540.1 | 679 | E | D | 796 | REPS1 | 1,166,689 | 0 | test | existing | 1 | NP_004717.2 | null |
NP_060599.1_R95C | NP_060599.1 | 95 | R | C | 261 | PNPO | 1,297,019 | 1 | test | existing | 2 | NP_060599.1 | null |
NP_001357188.2_E45G | NP_001357188.2 | 45 | E | G | 610 | MEN1 | 643,100 | 1 | test | existing | 2 | NP_001357188.2 | null |
NP_003485.1_E729K | NP_003485.1 | 729 | E | K | 2,080 | DYSF | 572,853 | 0 | test | existing | 1 | NP_001124459.1 | null |
NP_004954.2_Y1072C | NP_004954.2 | 1,072 | Y | C | 1,073 | GUCY2C | 782,874 | 0 | test | existing | 1 | NP_003986.2 | null |
NP_068711.1_I288T | NP_068711.1 | 288 | I | T | 512 | GABRB2 | 421,916 | 1 | test | existing | 2 | NP_068712.1 | null |
NP_060798.2_V1143D | NP_060798.2 | 1,143 | V | D | 1,494 | null | null | 0 | test | existing | null | NP_060798.2 | null |
NP_003602.1_E998K | NP_003602.1 | 998 | E | K | 1,012 | OFD1 | 1,653,522 | 0 | test | existing | 2 | NP_003602.1 | null |
NP_060798.2_S236L | NP_060798.2 | 236 | S | L | 1,494 | MBD5 | 1,639,029 | 0 | test | existing | 2 | NP_060798.2 | null |
NP_849164.2_V60I | NP_849164.2 | 60 | V | I | 383 | CERS3 | 774,226 | 0 | test | existing | 2 | NP_849164.2 | null |
NP_000197.1_V152A | NP_000197.1 | 152 | V | A | 369 | IL2RG | 36,386 | 1 | test | existing | 2 | NP_000197.1 | null |
NP_001008537.1_R1423H | NP_001008537.1 | 1,423 | R | H | 1,516 | NEXMIF | 684,546 | 0 | test | existing | 2 | NP_001008537.1 | null |
NP_001547.1_T344M | NP_001547.1 | 344 | T | M | 756 | null | null | 0 | test | existing | null | NP_001229707.1 | null |
NP_001098548.2_I962V | NP_001098548.2 | 962 | I | V | 1,051 | null | null | 0 | test | existing | null | NP_001098548.2 | null |
NP_000197.1_A348T | NP_000197.1 | 348 | A | T | 369 | IL2RG | 855,653 | 0 | test | existing | 1 | NP_000197.1 | null |
NP_003602.1_R467H | NP_003602.1 | 467 | R | H | 1,012 | OFD1 | 1,164,897 | 0 | test | existing | 2 | NP_003602.1 | null |
NP_003150.1_D193A | NP_003150.1 | 193 | D | A | 1,030 | CDKL5 | 1,432,338 | 1 | test | existing | 1 | NP_001310218.1 | null |
NP_000415.2_L463P | NP_000415.2 | 463 | L | P | 590 | KRT5 | 14,639 | 1 | test | existing | 2 | NP_004684.2 | null |
NP_002388.2_A341T | NP_002388.2 | 341 | A | T | 473 | null | null | 0 | test | existing | null | NP_001351274.1 | null |
NP_000243.1_T66I | NP_000243.1 | 66 | T | I | 603 | MTM1 | 1,338,304 | 1 | test | existing | 1 | NP_056273.2 | null |
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