regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMRTC1B_chrX_72771890_72853803 | 72776950 | TTCCTCCT others(2): Show |
T | 5_prime_UTR_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0015 | 1 | 26 | 0.0385 | -9 | c.-34 others(18): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/7 | 68134 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
DMRTC1_chrX_72867025_72948837 | 72893077 | GAATCCAA others(2): Show |
G | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 54 | 0.0185 | -9 | c.-94 others(28): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41842764 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01175.hp2 HG01255.hp2 others(24): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0002a0001c0002t0001a0005c0007t0001 | a0001c0001t0002g0014a0001c0002t0001g0002a0001c0002t0001g0003others(7): Show | 27 | 402 | 0.0672 | -9 | c.-23 others(20): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 2277 | chr19 | TogoVar | ||||||
DMTF1_chr7_87147453_87201325 | 87167575 | AATCATAT others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01358.hp1 HG01433.hp1 others(18): Show |
a0001a0008 | a0001c0003a0008c0014 | a0001c0003t0003a0001c0003t0004a0008c0014t0004 | a0001c0003t0003g0008a0001c0003t0003g0012a0001c0003t0003g0018others(7): Show | 21 | 362 | 0.0580 | -9 | c.232 others(24): Show |
DMTF1 | ENSG00000135164.19 | transcript | ENST00000331242.12 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51497911 | AATCATAG others(2): Show |
A | intron_variant | MODIFIER | HG01255.hp2 HG04204.hp1 NA18939.hp1 others(22): Show |
a0002a0017 | a0002c0004a0017c0024 | a0002c0004t0001a0002c0004t0008a0017c0024t0001 | a0002c0004t0001g0006a0002c0004t0001g0297a0002c0004t0001g0298others(21): Show | 25 | 346 | 0.0723 | -9 | c.467 others(26): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 18/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51521414 | CTAGTAGT others(2): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG03579.hp2 HG04115.hp2 |
a0002a0003a0013 | a0002c0033a0003c0003a0013c0034 | a0002c0033t0007a0003c0003t0003a0013c0034t0007 | a0002c0033t0007g0210a0003c0003t0003g0024a0013c0034t0007g0211 | 3 | 346 | 0.0087 | -9 | c.243 others(28): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 13/43 | chr15 | TogoVar | ||||||
DNAAF2_chr14_49620174_49640244 | 49638370 | TAAAAAAA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(94): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0012a0003c0003others(3): Show | a0002c0002t0001a0002c0002t0007a0002c0002t0008others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0006a0002c0002t0001g0010others(38): Show | 97 | 352 | 0.2756 | -9 | c.-32 others(20): Show |
DNAAF2 | ENSG00000165506.15 | transcript | ENST00000298292.13 | protein_coding | 3127 | chr14 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55162997 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(69): Show |
a0001a0003a0005others(1): Show | a0001c0004a0003c0002a0005c0008others(1): Show | a0001c0004t0001a0003c0002t0001a0005c0008t0001others(1): Show | a0001c0004t0001g0117a0003c0002t0001g0002a0003c0002t0001g0006others(12): Show | 72 | 398 | 0.1809 | -9 | c.323 others(24): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4/11 | chr19 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55483833 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02280.hp2 others(10): Show |
a0001a0004 | a0001c0001a0004c0005a0004c0007 | a0001c0001t0001a0004c0005t0001a0004c0005t0002others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0113a0001c0001t0001g0153others(10): Show | 13 | 338 | 0.0385 | -9 | c.405 others(26): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 784018 | GCCCCCAC others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(281): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0004a0001c0016others(22): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(35): Show | a0001c0001t0002g0004a0001c0001t0002g0066a0001c0001t0002g0069others(257): Show | 284 | 378 | 0.7513 | -9 | c.243 others(28): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAAF6_chrX_107201611_107249247 | 107221910 | CATAATAA others(2): Show |
C | intron_variant | MODIFIER | HG02630.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 2 | 296 | 0.0068 | -9 | c.333 others(24): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF9_chr20_3244306_3412669 | 3300678 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG01255.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0036a0001c0003t0004others(3): Show | a0001c0001t0001g0209a0001c0001t0001g0237a0001c0001t0001g0238others(15): Show | 18 | 362 | 0.0497 | -9 | c.178 others(28): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 21/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123866229 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp2 HG02027.hp1 others(9): Show |
a0014a0024a0025others(6): Show | a0014c0016a0024c0024a0025c0079others(7): Show | a0014c0016t0001a0024c0024t0001a0025c0079t0001others(7): Show | a0014c0016t0001g0102a0014c0016t0001g0103a0024c0024t0001g0005others(9): Show | 12 | 170 | 0.0706 | -9 | c.716 others(26): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 41/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123921691 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG03486.hp1 HG03688.hp2 others(2): Show |
a0001a0003a0030others(1): Show | a0001c0002a0001c0003a0003c0019others(2): Show | a0001c0002t0002a0001c0003t0002a0003c0019t0002others(2): Show | a0001c0002t0002g0137a0001c0003t0002g0059a0003c0019t0002g0093others(2): Show | 5 | 170 | 0.0294 | -9 | c.115 others(30): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 65/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21691169 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01071.hp1 others(41): Show |
a0002a0005a0007others(39): Show | a0002c0091a0005c0160a0007c0165others(40): Show | a0002c0091t0002a0005c0160t0003a0007c0165t0001others(40): Show | a0002c0091t0002g0015a0005c0160t0003g0010a0007c0165t0001g0008others(41): Show | 44 | 298 | 0.1477 | -9 | c.604 others(26): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 35/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21728237 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01074.hp1 HG01109.hp1 others(59): Show |
a0003a0004a0005others(53): Show | a0003c0084a0004c0054a0005c0116others(56): Show | a0003c0084t0001a0004c0054t0002a0005c0116t0018others(56): Show | a0003c0084t0001g0032a0004c0054t0002g0063a0005c0116t0018g0097others(59): Show | 62 | 298 | 0.2081 | -9 | c.744 others(28): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21850188 | CTACTAAA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01884.hp1 others(58): Show |
a0002a0004a0005others(49): Show | a0002c0110a0004c0054a0004c0062others(56): Show | a0002c0110t0005a0004c0054t0002a0004c0062t0002others(56): Show | a0002c0110t0005g0245a0004c0054t0002g0063a0004c0062t0002g0281others(58): Show | 61 | 298 | 0.2047 | -9 | c.108 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 66/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21896903 | TAATAAAA others(2): Show |
T | intron_variant | MODIFIER | HG03139.hp2 HG03471.hp2 NA18906.hp2 others(1): Show |
a0006a0012a0108others(1): Show | a0006c0161a0012c0169a0108c0172others(1): Show | a0006c0161t0008a0012c0169t0008a0108c0172t0008others(1): Show | a0006c0161t0008g0099a0012c0169t0008g0116a0108c0172t0008g0087others(1): Show | 4 | 298 | 0.0134 | -9 | c.130 others(30): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 79/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH12_chr3_57288700_57549344 | 57301265 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01255.hp2 HG01891.hp1 others(19): Show |
a0002a0007a0009others(12): Show | a0002c0023a0007c0008a0007c0016others(15): Show | a0002c0023t0001a0007c0008t0002a0007c0016t0001others(15): Show | a0002c0023t0001g0141a0007c0008t0002g0046a0007c0008t0002g0078others(19): Show | 22 | 266 | 0.0827 | -9 | c.113 others(28): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 70/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225011758 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp2 HG01884.hp2 others(24): Show |
a0005a0008a0010others(16): Show | a0005c0031a0008c0007a0010c0010others(17): Show | a0005c0031t0001a0008c0007t0001a0010c0010t0001others(17): Show | a0005c0031t0001g0146a0008c0007t0001g0011a0010c0010t0001g0030others(24): Show | 27 | 240 | 0.1125 | -9 | c.110 others(28): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 10/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225135855 | TATATATT others(2): Show |
T | intron_variant | MODIFIER | HG01258.hp2 HG01261.hp2 HG01891.hp2 others(13): Show |
a0007a0008a0015others(3): Show | a0007c0009a0007c0048a0008c0007others(4): Show | a0007c0009t0001a0007c0048t0001a0008c0007t0001others(4): Show | a0007c0009t0001g0004a0007c0009t0001g0005a0007c0009t0001g0006others(13): Show | 16 | 240 | 0.0667 | -9 | c.425 others(28): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 27/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225274197 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02572.hp2 HG02622.hp2 others(8): Show |
a0007a0009a0020others(5): Show | a0007c0009a0009c0035a0009c0125others(7): Show | a0007c0009t0001a0009c0035t0001a0009c0125t0001others(7): Show | a0007c0009t0001g0006a0009c0035t0001g0214a0009c0035t0001g0215others(8): Show | 11 | 240 | 0.0458 | -9 | c.801 others(28): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 52/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225352088 | ATTAGAAA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(55): Show |
a0001a0006a0011others(18): Show | a0001c0001a0001c0008a0006c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(21): Show | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0132others(55): Show | 58 | 240 | 0.2417 | -9 | c.115 others(28): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 72/85 | chr1 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78477947 | ATTATCAT others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02809.hp1 others(4): Show |
a0049a0072a0073others(4): Show | a0049c0217a0072c0215a0073c0107others(4): Show | a0049c0217t0001a0072c0215t0001a0073c0107t0001others(4): Show | a0049c0217t0001g0237a0072c0215t0001g0100a0073c0107t0001g0143others(4): Show | 7 | 252 | 0.0278 | -9 | c.799 others(28): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78477996 | CCACCATC others(2): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01433.hp2 HG01496.hp2 others(8): Show |
a0001a0003a0005others(8): Show | a0001c0128a0003c0083a0005c0119others(8): Show | a0001c0128t0001a0003c0083t0001a0005c0119t0001others(8): Show | a0001c0128t0001g0233a0003c0083t0001g0152a0005c0119t0001g0020others(8): Show | 11 | 252 | 0.0437 | -9 | c.799 others(28): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78478014 | TCACCATC others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00738.hp2 others(32): Show |
a0001a0002a0003others(29): Show | a0001c0138a0002c0050a0003c0044others(32): Show | a0001c0138t0001a0002c0050t0002a0003c0044t0001others(32): Show | a0001c0138t0001g0226a0002c0050t0002g0004a0003c0044t0001g0106others(32): Show | 35 | 252 | 0.1389 | -9 | c.799 others(28): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78478023 | CCACCACC others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG03579.hp1 |
a0029a0047a0053 | a0029c0201a0047c0219a0053c0046 | a0029c0201t0001a0047c0219t0001a0053c0046t0001 | a0029c0201t0001g0140a0047c0219t0001g0122a0053c0046t0001g0102 | 3 | 252 | 0.0119 | -9 | c.799 others(27): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78478654 | CACCATCA others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG02056.hp1 others(1): Show |
a0001a0020a0121 | a0001c0001a0020c0013a0121c0148 | a0001c0001t0001a0020c0013t0001a0121c0148t0001 | a0001c0001t0001g0159a0020c0013t0001g0167a0020c0013t0001g0184others(1): Show | 4 | 252 | 0.0159 | -9 | c.799 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78504471 | ACCACCCC others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(175): Show |
a0001a0002a0003others(94): Show | a0001c0001a0001c0002a0001c0008others(159): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(161): Show | a0001c0001t0001g0055a0001c0001t0001g0159a0001c0001t0001g0178others(175): Show | 178 | 252 | 0.7064 | -9 | c.495 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 31/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78514503 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp1 HG00738.hp1 others(20): Show |
a0003a0006a0011others(12): Show | a0003c0014a0006c0010a0006c0051others(17): Show | a0003c0014t0001a0006c0010t0001a0006c0051t0001others(17): Show | a0003c0014t0001g0014a0003c0014t0001g0015a0006c0010t0001g0209others(20): Show | 23 | 252 | 0.0913 | -9 | c.411 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 26/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78544800 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00609.hp2 others(24): Show |
a0001a0005a0008others(10): Show | a0001c0001a0001c0008a0001c0040others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0008t0001others(21): Show | a0001c0001t0001g0159a0001c0001t0001g0178a0001c0001t0001g0188others(24): Show | 27 | 252 | 0.1071 | -9 | c.239 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78553311 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG00639.hp2 others(17): Show |
a0001a0003a0005others(12): Show | a0001c0001a0001c0008a0001c0040others(17): Show | a0001c0001t0001a0001c0008t0001a0001c0040t0001others(17): Show | a0001c0001t0001g0188a0001c0008t0001g0239a0001c0040t0001g0054others(17): Show | 20 | 252 | 0.0794 | -9 | c.217 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78554436 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01123.hp2 HG01891.hp1 others(14): Show |
a0001a0010a0026others(14): Show | a0001c0208a0010c0213a0026c0019others(14): Show | a0001c0208t0001a0010c0213t0001a0026c0019t0001others(14): Show | a0001c0208t0001g0065a0010c0213t0001g0138a0026c0019t0001g0127others(14): Show | 17 | 252 | 0.0675 | -9 | c.217 others(28): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7749303 | CCCCCCAA others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01081.hp1 HG01257.hp1 others(24): Show |
a0001a0002a0004others(7): Show | a0001c0005a0001c0018a0002c0003others(12): Show | a0001c0005t0001a0001c0018t0002a0002c0003t0001others(15): Show | a0001c0005t0001g0001a0001c0005t0001g0083a0001c0005t0001g0093others(23): Show | 27 | 316 | 0.0854 | -9 | c.190 others(28): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | chr17 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20974797 | TGCTGGGA others(2): Show |
T | intron_variant | MODIFIER | HG03704.hp1 HG04204.hp2 |
a0028a0044 | a0028c0092a0044c0070 | a0028c0092t0001a0044c0070t0001 | a0028c0092t0001g0041a0044c0070t0001g0042 | 2 | 234 | 0.0086 | -9 | c.812 others(26): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 51/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21002444 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG01496.hp1 NA18906.hp2 |
a0002a0053 | a0002c0089a0053c0090 | a0002c0089t0001a0053c0090t0001 | a0002c0089t0001g0165a0053c0090t0001g0164 | 2 | 234 | 0.0086 | -9 | c.598 others(26): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 42/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21039100 | AAAACTGG others(2): Show |
A | intron_variant | MODIFIER | NA18948.hp1 NA18967.hp1 NA19083.hp2 |
a0001 | a0001c0002a0001c0034 | a0001c0002t0001a0001c0034t0001 | a0001c0002t0001g0155a0001c0002t0001g0196a0001c0034t0001g0060 | 3 | 234 | 0.0128 | -9 | c.459 others(26): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 33/61 | chr16 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13916611 | ATATTAAT others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02970.hp2 HG03540.hp2 others(1): Show |
a0035a0092a0093 | a0035c0025a0092c0114a0093c0113 | a0035c0025t0006a0092c0114t0001a0093c0113t0001 | a0035c0025t0006g0149a0035c0025t0006g0152a0092c0114t0001g0141others(1): Show | 4 | 252 | 0.0159 | -9 | c.109 others(26): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 8/78 | chr5 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84553360 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp1 HG00735.hp1 others(19): Show |
a0001a0005a0006others(7): Show | a0001c0001a0001c0005a0001c0015others(12): Show | a0001c0001t0001a0001c0005t0001a0001c0015t0001others(12): Show | a0001c0001t0001g0054a0001c0001t0001g0056a0001c0001t0001g0067others(19): Show | 22 | 116 | 0.1897 | -9 | c.160 others(26): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 10/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84763797 | TGGAAACT others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG02647.hp1 HG02723.hp2 others(3): Show |
a0001a0015 | a0001c0005a0001c0028a0015c0042 | a0001c0005t0001a0001c0028t0001a0015c0042t0001 | a0001c0005t0001g0018a0001c0005t0001g0019a0001c0005t0001g0024others(3): Show | 6 | 116 | 0.0517 | -9 | c.107 others(28): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 64/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH7_chr2_195732703_196073837 | 196046758 | TACTTACC others(2): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG02109.hp2 HG02559.hp1 others(8): Show |
a0001a0008a0020 | a0001c0063a0008c0009a0020c0024 | a0001c0063t0001a0008c0009t0002a0020c0024t0003 | a0001c0063t0001g0041a0008c0009t0002g0038a0008c0009t0002g0039others(8): Show | 11 | 256 | 0.0430 | -9 | c.398 others(24): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 5/64 | chr2 | TogoVar | ||||||
DNAH8_chr6_38710311_39035792 | 38733985 | AAAATGAT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00741.hp2 others(23): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0007a0001c0101others(16): Show | a0001c0001t0001a0001c0007t0001a0001c0101t0001others(16): Show | a0001c0001t0001g0022a0001c0001t0001g0107a0001c0001t0001g0179others(23): Show | 26 | 284 | 0.0916 | -9 | c.611 others(24): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 4/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38772971 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp2 HG01071.hp1 others(16): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0038a0001c0040others(5): Show | a0001c0001t0001a0001c0038t0001a0001c0040t0002others(5): Show | a0001c0001t0001g0022a0001c0001t0001g0092a0001c0001t0001g0093others(16): Show | 19 | 284 | 0.0669 | -9 | c.176 others(28): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 12/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38827733 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG01175.hp2 HG01256.hp2 others(19): Show |
a0003a0007a0012others(5): Show | a0003c0002a0003c0017a0003c0047others(8): Show | a0003c0002t0001a0003c0017t0001a0003c0047t0001others(8): Show | a0003c0002t0001g0036a0003c0002t0001g0067a0003c0002t0001g0078others(19): Show | 22 | 284 | 0.0775 | -9 | c.408 others(26): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 29/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH8_chr6_38710311_39035792 | 38963253 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02486.hp2 others(3): Show |
a0004a0019a0048others(1): Show | a0004c0021a0019c0053a0048c0096others(1): Show | a0004c0021t0001a0019c0053t0001a0048c0096t0001others(1): Show | a0004c0021t0001g0153a0004c0021t0001g0177a0004c0021t0001g0178others(3): Show | 6 | 284 | 0.0211 | -9 | c.124 others(30): Show |
DNAH8 | ENSG00000124721.18 | transcript | ENST00000327475.11 | protein_coding | 82/92 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11605476 | TCTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(73): Show |
a0001a0002a0003others(43): Show | a0001c0002a0001c0050a0001c0053others(65): Show | a0001c0002t0001a0001c0050t0001a0001c0053t0003others(65): Show | a0001c0002t0001g0023a0001c0002t0001g0129a0001c0002t0001g0145others(73): Show | 76 | 178 | 0.4270 | -9 | c.418 others(26): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 1/68 | chr17 | TogoVar | ||||||
DNAH9_chr17_11593470_11974748 | 11645873 | CTTTTTCT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(37): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0003a0001c0012others(36): Show | a0001c0001t0001a0001c0003t0001a0001c0012t0001others(36): Show | a0001c0001t0001g0124a0001c0003t0001g0087a0001c0012t0001g0035others(37): Show | 40 | 178 | 0.2247 | -9 | c.197 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 11/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11654355 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG01884.hp1 others(21): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0024a0001c0093others(20): Show | a0001c0001t0001a0001c0024t0001a0001c0093t0001others(20): Show | a0001c0001t0001g0088a0001c0024t0001g0006a0001c0093t0001g0166others(21): Show | 24 | 178 | 0.1348 | -9 | c.259 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 14/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11733860 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp2 HG02965.hp1 others(2): Show |
a0018a0027a0063others(1): Show | a0018c0149a0018c0150a0027c0033others(2): Show | a0018c0149t0001a0018c0150t0002a0027c0033t0002others(2): Show | a0018c0149t0001g0011a0018c0150t0002g0012a0027c0033t0002g0103others(2): Show | 5 | 178 | 0.0281 | -9 | c.581 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 28/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH9_chr17_11593470_11974748 | 11826407 | AATTACTA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(118): Show |
a0001a0002a0003others(64): Show | a0001c0001a0001c0002a0001c0012others(104): Show | a0001c0001t0001a0001c0002t0001a0001c0012t0001others(104): Show | a0001c0001t0001g0032a0001c0001t0001g0082a0001c0001t0001g0088others(118): Show | 121 | 178 | 0.6798 | -9 | c.924 others(28): Show |
DNAH9 | ENSG00000007174.18 | transcript | ENST00000262442.9 | protein_coding | 48/68 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |