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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH14_chr1_224924675_225404286 | 225130815 | TATAATA | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp2 others(28): Show |
a0000a0003a0005others(15): Show | a0000c0102a0003c0002a0005c0005others(17): Show | a0000c0102t0003a0003c0002t0001a0005c0005t0001others(17): Show | a0000c0102t0003g0177a0003c0002t0001g0178a0005c0005t0001g0133others(28): Show | 31 | 240 | 0.1292 | -6 | c.425 others(25): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 27/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225149050 | TGCCTAG | T | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
a0010a0017a0078others(4): Show | a0010c0010a0017c0015a0078c0089others(4): Show | a0010c0010t0001a0017c0015t0001a0078c0089t0001others(4): Show | a0010c0010t0001g0030a0010c0010t0001g0031a0010c0010t0001g0032others(9): Show | 12 | 240 | 0.0500 | -6 | c.494 others(25): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 31/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225290631 | ATGTGTG | A | intron_variant | MODIFIER | HG00280.hp2 HG01074.hp1 HG01123.hp1 others(18): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0003a0004c0004others(8): Show | a0001c0001t0001a0002c0003t0001a0004c0004t0001others(8): Show | a0001c0001t0001g0159a0001c0001t0001g0167a0001c0001t0001g0171others(18): Show | 21 | 240 | 0.0875 | -6 | c.846 others(23): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225290645 | GTGTATA | G | intron_variant | MODIFIER | HG01106.hp1 HG02451.hp2 HG03041.hp1 |
a0014a0056a0057 | a0014c0013a0056c0059a0057c0060 | a0014c0013t0001a0056c0059t0001a0057c0060t0001 | a0014c0013t0001g0228a0056c0059t0001g0223a0057c0060t0001g0225 | 3 | 240 | 0.0125 | -6 | c.846 others(23): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225290647 | GTATATA | G | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01074.hp2 others(4): Show |
a0003a0005a0019others(1): Show | a0003c0002a0005c0041a0019c0016others(1): Show | a0003c0002t0001a0005c0041t0001a0019c0016t0001others(1): Show | a0003c0002t0001g0110a0003c0002t0001g0127a0003c0002t0001g0178others(4): Show | 7 | 240 | 0.0292 | -6 | c.846 others(23): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 55/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335224 | CACATAT | C | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG03927.hp1 others(1): Show |
a0021a0048a0087 | a0021c0034a0048c0071a0087c0097 | a0021c0034t0001a0048c0071t0001a0087c0097t0001 | a0021c0034t0001g0089a0021c0034t0001g0090a0048c0071t0001g0037others(1): Show | 4 | 240 | 0.0167 | -6 | c.100 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225335492 | TGTGTAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(68): Show |
a0001a0006a0008others(23): Show | a0001c0001a0001c0008a0006c0006others(25): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(27): Show | a0001c0001t0001g0105a0001c0001t0001g0132a0001c0001t0001g0147others(68): Show | 71 | 240 | 0.2958 | -6 | c.100 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335782 | TTCATAA | T | intron_variant | MODIFIER | HG01106.hp1 HG01258.hp2 HG01891.hp2 others(12): Show |
a0001a0008a0014others(4): Show | a0001c0001a0008c0007a0014c0013others(4): Show | a0001c0001t0001a0008c0007t0001a0014c0013t0001others(4): Show | a0001c0001t0001g0189a0008c0007t0001g0003a0008c0007t0001g0010others(12): Show | 15 | 240 | 0.0625 | -6 | c.100 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | chr1 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225335882 | TATGTAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG01070.hp1 others(26): Show |
a0001a0006a0011others(11): Show | a0001c0001a0006c0006a0011c0011others(11): Show | a0001c0001t0001a0001c0001t0002a0006c0006t0001others(12): Show | a0001c0001t0001g0034a0001c0001t0001g0132a0001c0001t0001g0147others(26): Show | 29 | 240 | 0.1208 | -6 | c.100 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225336004 | TGTATAC | T | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01081.hp2 others(53): Show |
a0001a0006a0008others(18): Show | a0001c0001a0001c0008a0006c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(22): Show | a0001c0001t0001g0105a0001c0001t0001g0132a0001c0001t0001g0147others(53): Show | 56 | 240 | 0.2333 | -6 | c.100 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 66/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225342683 | AACACAC | A | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02572.hp1 others(2): Show |
a0003a0004a0059others(1): Show | a0003c0002a0004c0004a0059c0057others(1): Show | a0003c0002t0001a0004c0004t0001a0059c0057t0001others(1): Show | a0003c0002t0001g0148a0004c0004t0001g0053a0004c0004t0001g0054others(2): Show | 5 | 240 | 0.0208 | -6 | c.106 others(27): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 69/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225367008 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00558.hp1 others(83): Show |
a0001a0002a0003others(39): Show | a0001c0001a0001c0008a0002c0003others(45): Show | a0001c0001t0001a0001c0008t0001a0002c0003t0001others(45): Show | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0132others(83): Show | 86 | 240 | 0.3583 | -6 | c.120 others(25): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 76/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225374145 | CTATATA | C | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01515.hp2 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0073a0004c0004others(2): Show | a0001c0001t0001a0002c0073t0001a0004c0004t0001others(2): Show | a0001c0001t0001g0132a0001c0001t0001g0147a0001c0001t0001g0149others(5): Show | 8 | 240 | 0.0333 | -6 | c.123 others(25): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225374248 | CTATATA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(61): Show |
a0003a0010a0012others(31): Show | a0003c0002a0010c0010a0012c0024others(32): Show | a0003c0002t0001a0010c0010t0001a0012c0024t0001others(32): Show | a0003c0002t0001g0106a0003c0002t0001g0110a0003c0002t0001g0113others(61): Show | 64 | 240 | 0.2667 | -6 | c.123 others(25): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78425756 | CTTTTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG01074.hp2 HG01099.hp2 others(13): Show |
a0003a0008a0019others(13): Show | a0003c0099a0008c0066a0019c0049others(13): Show | a0003c0099t0002a0008c0066t0002a0019c0049t0002others(13): Show | a0003c0099t0002g0133a0008c0066t0002g0208a0019c0049t0002g0144others(13): Show | 16 | 252 | 0.0635 | -6 | c.129 others(25): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 79/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78427966 | CAAAAAA | C | intron_variant | MODIFIER | HG01106.hp1 HG01123.hp2 HG01516.hp2 others(11): Show |
a0002a0004a0005others(9): Show | a0002c0050a0004c0199a0005c0226others(9): Show | a0002c0050t0002a0004c0199t0002a0005c0226t0002others(9): Show | a0002c0050t0002g0004a0004c0199t0002g0141a0005c0226t0002g0079others(11): Show | 14 | 252 | 0.0556 | -6 | c.125 others(25): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 77/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78443545 | CTTTTTA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(220): Show |
a0001a0002a0003others(122): Show | a0001c0001a0001c0002a0001c0008others(200): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(202): Show | a0001c0001t0001g0055a0001c0001t0001g0159a0001c0001t0001g0178others(220): Show | 223 | 252 | 0.8849 | -6 | c.115 others(27): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 71/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78473668 | CGCTGAG | C | intron_variant | MODIFIER | HG00558.hp2 HG01255.hp1 HG01891.hp1 others(10): Show |
a0001a0002a0003others(10): Show | a0001c0208a0002c0161a0003c0044others(10): Show | a0001c0208t0001a0002c0161t0003a0003c0044t0001others(10): Show | a0001c0208t0001g0065a0002c0161t0003g0246a0003c0044t0001g0106others(10): Show | 13 | 252 | 0.0516 | -6 | c.851 others(25): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 54/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78478302 | CACCACA | C | intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG02895.hp2 others(4): Show |
a0003a0011a0095others(2): Show | a0003c0006a0011c0007a0095c0088others(2): Show | a0003c0006t0001a0011c0007t0002a0095c0088t0002others(2): Show | a0003c0006t0001g0148a0003c0006t0001g0149a0011c0007t0002g0045others(4): Show | 7 | 252 | 0.0278 | -6 | c.799 others(23): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 51/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78482070 | CTTTTTT | C | intron_variant | MODIFIER | HG01123.hp2 HG02258.hp1 HG02976.hp1 others(2): Show |
a0005a0076a0094others(2): Show | a0005c0053a0076c0221a0094c0093others(2): Show | a0005c0053t0001a0076c0221t0001a0094c0093t0001others(2): Show | a0005c0053t0001g0176a0076c0221t0001g0139a0094c0093t0001g0089others(2): Show | 5 | 252 | 0.0198 | -6 | c.765 others(25): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 48/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78483654 | TAATAAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(194): Show |
a0001a0002a0003others(114): Show | a0001c0001a0001c0002a0001c0008others(175): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(177): Show | a0001c0001t0001g0055a0001c0001t0001g0159a0001c0001t0001g0178others(194): Show | 197 | 252 | 0.7818 | -6 | c.764 others(25): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 48/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78506133 | CTAGTTA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(61): Show |
a0001a0004a0007others(26): Show | a0001c0002a0001c0020a0001c0031others(56): Show | a0001c0002t0001a0001c0002t0004a0001c0020t0001others(57): Show | a0001c0002t0001g0205a0001c0002t0004g0001a0001c0002t0004g0002others(61): Show | 64 | 252 | 0.2540 | -6 | c.480 others(23): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 30/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78519167 | CAAAAAA | C | intron_variant | MODIFIER | HG01123.hp2 HG02109.hp2 HG02280.hp1 others(12): Show |
a0004a0010a0025others(12): Show | a0004c0103a0010c0212a0025c0017others(12): Show | a0004c0103t0001a0010c0212t0001a0025c0017t0001others(12): Show | a0004c0103t0001g0111a0010c0212t0001g0025a0025c0017t0001g0078others(12): Show | 15 | 252 | 0.0595 | -6 | c.386 others(25): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 25/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78538138 | CAAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG00738.hp1 others(35): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0020a0001c0109others(33): Show | a0001c0001t0001a0001c0020t0001a0001c0109t0001others(33): Show | a0001c0001t0001g0055a0001c0001t0001g0236a0001c0020t0001g0081others(35): Show | 38 | 252 | 0.1508 | -6 | c.267 others(23): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 18/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78553314 | TTTTTTA | T | intron_variant | MODIFIER | HG01891.hp1 HG02622.hp2 HG02738.hp1 others(3): Show |
a0001a0007a0051others(3): Show | a0001c0208a0007c0151a0051c0158others(3): Show | a0001c0208t0001a0007c0151t0001a0051c0158t0001others(3): Show | a0001c0208t0001g0065a0007c0151t0001g0214a0051c0158t0001g0097others(3): Show | 6 | 252 | 0.0238 | -6 | c.217 others(23): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78554436 | CAAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp2 HG02280.hp1 others(7): Show |
a0002a0005a0021others(7): Show | a0002c0089a0005c0226a0021c0228others(7): Show | a0002c0089t0001a0005c0226t0002a0021c0228t0001others(7): Show | a0002c0089t0001g0037a0005c0226t0002g0079a0021c0228t0001g0016others(7): Show | 10 | 252 | 0.0397 | -6 | c.217 others(25): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 14/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7714130 | TGTGTGC | T | upstream_gene_variant | MODIFIER | HG02257.hp1 HG03516.hp1 NA18906.hp2 |
a0001a0017 | a0001c0018a0017c0024 | a0001c0018t0002a0017c0024t0002 | a0001c0018t0002g0254a0017c0024t0002g0252a0017c0024t0002g0253 | 3 | 316 | 0.0095 | -6 | c.-46 others(17): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 3613 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7749303 | CCCCCCA | C | intron_variant | MODIFIER | HG00140.hp1 HG01192.hp2 HG02257.hp2 others(5): Show |
a0001a0002a0021 | a0001c0006a0001c0053a0002c0031others(4): Show | a0001c0006t0003a0001c0053t0001a0002c0031t0002others(4): Show | a0001c0006t0003g0274a0001c0053t0001g0098a0002c0031t0002g0075others(5): Show | 8 | 316 | 0.0253 | -6 | c.190 others(25): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 12/85 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7789166 | AAAAAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(135): Show |
a0001a0002a0003others(32): Show | a0001c0001a0001c0002a0001c0005others(60): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(88): Show | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0113others(134): Show | 138 | 316 | 0.4367 | -6 | c.690 others(23): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 44/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH2_chr17_7712744_7838742 | 7793441 | CTTTCTT | C | intron_variant | MODIFIER | HG01099.hp2 HG01123.hp2 HG01517.hp1 others(9): Show |
a0001a0002a0003others(6): Show | a0001c0049a0002c0048a0003c0004others(6): Show | a0001c0049t0002a0002c0048t0001a0003c0004t0002others(7): Show | a0001c0049t0002g0010a0002c0048t0001g0205a0003c0004t0002g0027others(9): Show | 12 | 316 | 0.0380 | -6 | c.756 others(23): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 48/85 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
DNAH3_chr16_20928111_21155846 | 20969086 | CTGTGTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00609.hp2 others(29): Show |
a0001a0002a0004others(9): Show | a0001c0022a0001c0026a0002c0006others(17): Show | a0001c0022t0001a0001c0026t0002a0002c0006t0001others(19): Show | a0001c0022t0001g0161a0001c0026t0002g0003a0002c0006t0001g0064others(29): Show | 32 | 234 | 0.1368 | -6 | c.832 others(23): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 52/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21064860 | GGTGTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01168.hp1 others(34): Show |
a0001a0002a0003others(14): Show | a0001c0011a0001c0026a0001c0033others(23): Show | a0001c0011t0001a0001c0026t0002a0001c0033t0001others(24): Show | a0001c0011t0001g0125a0001c0011t0001g0176a0001c0026t0002g0003others(34): Show | 37 | 234 | 0.1581 | -6 | c.338 others(25): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 24/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21073526 | GGGTCTC | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp2 others(51): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0011a0001c0013others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0011t0001others(21): Show | a0001c0001t0001g0157a0001c0001t0001g0159a0001c0001t0001g0163others(51): Show | 54 | 234 | 0.2308 | -6 | c.294 others(25): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 21/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21128879 | AAAAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00639.hp2 others(62): Show |
a0001a0003a0005others(21): Show | a0001c0033a0001c0094a0001c0095others(33): Show | a0001c0033t0001a0001c0094t0001a0001c0095t0001others(34): Show | a0001c0033t0001g0075a0001c0033t0001g0077a0001c0094t0001g0116others(62): Show | 65 | 234 | 0.2778 | -6 | c.996 others(23): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 8/61 | chr16 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13686412 | TTAAATC | T | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00741.hp2 HG01106.hp1 others(4): Show |
a0042a0069a0091others(3): Show | a0042c0159a0042c0173a0069c0086others(4): Show | a0042c0159t0002a0042c0173t0002a0069c0086t0002others(4): Show | a0042c0159t0002g0198a0042c0173t0002g0201a0069c0086t0002g0065others(4): Show | 7 | 252 | 0.0278 | -6 | c.*55 others(17): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 3915 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13713434 | CATATAT | C | intron_variant | MODIFIER | HG01256.hp1 HG01257.hp2 HG01978.hp1 others(4): Show |
a0018a0021a0043others(3): Show | a0018c0017a0018c0090a0021c0087others(4): Show | a0018c0017t0001a0018c0090t0001a0021c0087t0001others(4): Show | a0018c0017t0001g0073a0018c0090t0001g0068a0021c0087t0001g0066others(4): Show | 7 | 252 | 0.0278 | -6 | c.131 others(25): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 75/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13713462 | TATATAC | T | intron_variant | MODIFIER | HG00438.hp2 HG01081.hp2 HG02647.hp2 others(2): Show |
a0001a0008a0014others(1): Show | a0001c0006a0008c0056a0014c0131others(2): Show | a0001c0006t0002a0008c0056t0003a0014c0131t0005others(2): Show | a0001c0006t0002g0120a0008c0056t0003g0250a0014c0131t0005g0011others(2): Show | 5 | 252 | 0.0198 | -6 | c.131 others(25): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 75/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13778590 | GAAAGAA | G | intron_variant | MODIFIER | HG01069.hp1 HG01257.hp1 HG01943.hp2 others(4): Show |
a0004a0015a0020others(4): Show | a0004c0112a0015c0176a0020c0014others(4): Show | a0004c0112t0001a0015c0176t0001a0020c0014t0001others(4): Show | a0004c0112t0001g0033a0015c0176t0001g0164a0020c0014t0001g0020others(4): Show | 7 | 252 | 0.0278 | -6 | c.895 others(25): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 53/78 | chr5 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13861971 | AAAAAAC | A | intron_variant | MODIFIER | HG01069.hp1 HG01243.hp2 HG02145.hp2 others(6): Show |
a0008a0009a0053others(5): Show | a0008c0063a0008c0065a0009c0171others(6): Show | a0008c0063t0006a0008c0065t0002a0009c0171t0020others(6): Show | a0008c0063t0006g0151a0008c0065t0002g0016a0009c0171t0020g0176others(6): Show | 9 | 252 | 0.0357 | -6 | c.479 others(23): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 29/78 | chr5 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84580316 | GCACACA | G | intron_variant | MODIFIER | HG00735.hp2 HG01361.hp1 HG01884.hp2 others(29): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0005a0001c0010others(13): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(13): Show | a0001c0001t0001g0045a0001c0001t0001g0056a0001c0005t0001g0018others(29): Show | 32 | 116 | 0.2759 | -6 | c.222 others(23): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 14/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84668852 | GTGTGTA | G | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp2 HG02572.hp2 others(20): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0010a0001c0015others(8): Show | a0001c0001t0001a0001c0010t0001a0001c0015t0001others(8): Show | a0001c0001t0001g0068a0001c0001t0001g0073a0001c0001t0001g0077others(20): Show | 23 | 116 | 0.1983 | -6 | c.608 others(23): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 37/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84674610 | ACTTTAT | A | intron_variant | MODIFIER | HG02717.hp1 HG03486.hp1 NA18906.hp2 others(1): Show |
a0008a0020 | a0008c0011a0020c0041 | a0008c0011t0001a0020c0041t0001 | a0008c0011t0001g0048a0008c0011t0001g0064a0008c0011t0001g0072others(1): Show | 4 | 116 | 0.0345 | -6 | c.661 others(25): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 40/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84683412 | ATTTTTT | A | intron_variant | MODIFIER | HG01884.hp2 HG02818.hp1 HG02886.hp2 others(2): Show |
a0009a0012 | a0009c0018a0009c0046a0012c0019others(1): Show | a0009c0018t0002a0009c0046t0001a0012c0019t0001others(1): Show | a0009c0018t0002g0093a0009c0018t0002g0104a0009c0046t0001g0094others(2): Show | 5 | 116 | 0.0431 | -6 | c.691 others(25): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 42/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84763714 | ATGTGTG | A | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01069.hp1 others(16): Show |
a0001a0003a0007others(3): Show | a0001c0001a0001c0022a0001c0024others(7): Show | a0001c0001t0001a0001c0022t0001a0001c0024t0001others(7): Show | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0045others(16): Show | 19 | 116 | 0.1638 | -6 | c.107 others(25): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 64/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84808129 | ATATGTG | A | intron_variant | MODIFIER | HG00735.hp1 HG02809.hp2 HG02897.hp2 others(3): Show |
a0001a0005a0010 | a0001c0036a0005c0003a0010c0016 | a0001c0036t0003a0005c0003t0001a0010c0016t0001 | a0001c0036t0003g0060a0005c0003t0001g0095a0005c0003t0001g0096others(3): Show | 6 | 116 | 0.0517 | -6 | c.116 others(25): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 71/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84808131 | ATGTGTG | A | intron_variant | MODIFIER | HG02698.hp2 HG02738.hp1 HG04204.hp1 |
a0001a0014 | a0001c0001a0014c0017 | a0001c0001t0001a0014c0017t0001 | a0001c0001t0001g0067a0014c0017t0001g0115a0014c0017t0001g0116 | 3 | 116 | 0.0259 | -6 | c.116 others(25): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 71/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84824546 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01074.hp2 others(25): Show |
a0001a0003a0005others(4): Show | a0001c0010a0001c0021a0001c0036others(10): Show | a0001c0010t0001a0001c0021t0001a0001c0036t0003others(10): Show | a0001c0010t0001g0020a0001c0010t0001g0025a0001c0010t0001g0026others(25): Show | 28 | 116 | 0.2414 | -6 | c.*51 others(17): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 4958 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195740585 | ATGTGTG | A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02109.hp1 others(1): Show |
a0006a0017 | a0006c0005a0017c0019 | a0006c0005t0001a0017c0019t0001 | a0006c0005t0001g0004a0006c0005t0001g0005a0017c0019t0001g0088others(1): Show | 4 | 256 | 0.0156 | -6 | c.118 others(25): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195740650 | TACACAC | T | intron_variant | MODIFIER | HG01928.hp2 HG02723.hp2 HG02922.hp2 others(5): Show |
a0001a0003a0015others(4): Show | a0001c0006a0003c0004a0003c0025others(5): Show | a0001c0006t0002a0003c0004t0003a0003c0025t0003others(5): Show | a0001c0006t0002g0062a0003c0004t0003g0105a0003c0025t0003g0101others(5): Show | 8 | 256 | 0.0313 | -6 | c.118 others(25): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 64/64 | chr2 | TogoVar | ||||||
DNAH7_chr2_195732703_196073837 | 195778643 | AATATAT | A | intron_variant | MODIFIER | HG01496.hp1 HG02809.hp2 HG03453.hp2 others(3): Show |
a0012a0020a0021 | a0012c0011a0020c0024a0021c0071 | a0012c0011t0003a0020c0024t0003a0021c0071t0003 | a0012c0011t0003g0024a0012c0011t0003g0025a0012c0011t0003g0026others(3): Show | 6 | 256 | 0.0234 | -6 | c.108 others(25): Show |
DNAH7 | ENSG00000118997.14 | transcript | ENST00000312428.11 | protein_coding | 58/64 | chr2 | TogoVar |