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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMRTC1_chrX_72867025_72948837 | 72893382 | T | TCATAAAG | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 54 | 0.0185 | 7 | c.-94 others(26): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72900297 | T | TAAAAAAA | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 54 | 0.0185 | 7 | c.-94 others(26): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72900298 | C | CAAAAAAA | intron_variant | MODIFIER | NA18950.hp1 NA18960.hp1 NA18970.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0014a0001c0001t0002g0027a0001c0001t0004g0020others(5): Show | 8 | 54 | 0.1482 | 7 | c.-94 others(26): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72943872 | A | AGGAGGAG | upstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0008 | 1 | 54 | 0.0185 | 7 | c.-39 others(16): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 36 | chrX | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22072631 | A | ATTTTTTT | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp2 HG02723.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0017 | a0001c0001t0003g0015a0001c0001t0003g0087a0001c0001t0003g0088others(6): Show | 10 | 324 | 0.0309 | 7 | c.729 others(22): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22075516 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00642.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0023 | a0001c0001t0002g0004a0001c0001t0002g0016a0001c0001t0002g0017others(14): Show | 22 | 324 | 0.0679 | 7 | c.835 others(24): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22078798 | G | GTTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp2 others(113): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(96): Show | 116 | 324 | 0.3580 | 7 | c.836 others(24): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22079301 | T | TATATATA | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01169.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0023 | a0001c0001t0001g0076a0001c0001t0001g0093a0001c0001t0001g0140others(9): Show | 14 | 324 | 0.0432 | 7 | c.836 others(22): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | chr8 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119089293 | T | TATATATA | intron_variant | MODIFIER | HG00544.hp2 HG02083.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001a0001c0002t0001g0116 | 2 | 238 | 0.0084 | 7 | c.88- others(22): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | chr5 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51567042 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG01175.hp1 HG02145.hp1 others(4): Show |
a0002a0015 | a0002c0002a0002c0008a0015c0026 | a0002c0002t0001a0002c0002t0010a0002c0008t0001others(1): Show | a0002c0002t0001g0256a0002c0002t0001g0280a0002c0002t0001g0291others(4): Show | 7 | 346 | 0.0202 | 7 | c.285 others(24): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 3/43 | chr15 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51576183 | T | TAAAAAAA | splice_region_variant others(1): Show |
LOW | HG01255.hp2 HG02922.hp2 HG04204.hp1 others(19): Show |
a0002a0013a0017 | a0002c0004a0013c0034a0017c0024 | a0002c0004t0001a0002c0004t0008a0013c0034t0007others(1): Show | a0002c0004t0001g0006a0002c0004t0001g0297a0002c0004t0001g0298others(18): Show | 22 | 346 | 0.0636 | 7 | c.88- others(16): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 1/43 | chr15 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68441844 | C | CAATATAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(155): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(21): Show | a0001c0001t0001g0089a0001c0001t0001g0169a0001c0001t0001g0192others(153): Show | 158 | 326 | 0.4847 | 7 | c.141 others(26): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 9/20 | chr10 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55163312 | A | ATTTTTTT | intron_variant | MODIFIER | HG01261.hp1 HG02055.hp2 HG02622.hp2 others(3): Show |
a0002a0006 | a0002c0003a0006c0014 | a0002c0003t0001a0006c0014t0001 | a0002c0003t0001g0066a0002c0003t0001g0079a0002c0003t0001g0081others(3): Show | 6 | 398 | 0.0151 | 7 | c.323 others(24): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4/11 | chr19 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55433858 | A | ATATAATT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00609.hp1 others(43): Show |
a0002a0009 | a0002c0002a0009c0009 | a0002c0002t0001a0002c0002t0006a0009c0009t0001 | a0002c0002t0001g0065a0002c0002t0001g0067a0002c0002t0001g0068others(43): Show | 46 | 338 | 0.1361 | 7 | c.104 others(26): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55433948 | A | ATATATTT | intron_variant | MODIFIER | HG02055.hp1 HG02965.hp2 HG03579.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0249a0002c0002t0002g0250a0002c0002t0002g0251others(2): Show | 5 | 338 | 0.0148 | 7 | c.104 others(24): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55473198 | A | AAAAAAAT | intron_variant | MODIFIER | HG02647.hp2 HG02738.hp1 HG03927.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0060a0001c0001t0001g0111a0001c0001t0001g0166others(3): Show | 6 | 338 | 0.0178 | 7 | c.406 others(24): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107229127 | C | CTTTTTTT | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 296 | 0.0034 | 7 | c.429 others(24): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF9_chr20_3244306_3412669 | 3268897 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02055.hp1 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0004a0001c0003t0009 | a0001c0002t0002g0126a0001c0002t0002g0128a0001c0002t0002g0131others(6): Show | 9 | 362 | 0.0249 | 7 | c.278 others(26): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 30/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3304577 | G | GGCTGGGT | intron_variant | MODIFIER | HG00408.hp1 HG02080.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0003a0001c0020 | a0001c0003t0006a0001c0020t0024 | a0001c0003t0006g0008a0001c0003t0006g0009a0001c0003t0006g0348others(4): Show | 7 | 362 | 0.0193 | 7 | c.167 others(22): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 20/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3349192 | C | CAAAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01081.hp1 others(19): Show |
a0001 | a0001c0003 | a0001c0003t0004a0001c0003t0005a0001c0003t0009others(1): Show | a0001c0003t0004g0013a0001c0003t0004g0023a0001c0003t0004g0025others(19): Show | 22 | 362 | 0.0608 | 7 | c.691 others(22): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 7/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3387884 | T | TAAAAAAA | intron_variant | MODIFIER | HG01074.hp1 HG01358.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0007a0001c0003t0004a0001c0004t0003others(2): Show | a0001c0001t0007g0312a0001c0001t0007g0313a0001c0001t0007g0314others(5): Show | 8 | 362 | 0.0221 | 7 | c.84- others(22): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3397318 | G | GTTTTGTT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(175): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(19): Show | a0001c0001t0001g0062a0001c0001t0001g0205a0001c0001t0001g0207others(175): Show | 178 | 362 | 0.4917 | 7 | c.83+ others(24): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 1/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123765561 | A | ATCTATCT | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02258.hp1 others(11): Show |
a0001a0005a0006others(9): Show | a0001c0001a0001c0002a0005c0007others(10): Show | a0001c0001t0001a0001c0002t0002a0005c0007t0002others(10): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0002t0002g0161others(11): Show | 14 | 170 | 0.0824 | 7 | c.215 others(24): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 1/78 | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123866229 | C | CTTTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG01978.hp1 HG02109.hp1 others(7): Show |
a0001a0039a0051 | a0001c0001a0001c0002a0039c0042others(1): Show | a0001c0001t0001a0001c0002t0002a0039c0042t0002others(1): Show | a0001c0001t0001g0020a0001c0001t0001g0052a0001c0001t0001g0057others(7): Show | 10 | 170 | 0.0588 | 7 | c.716 others(24): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 41/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21545274 | T | TAAAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00735.hp1 others(34): Show |
a0003a0008a0009others(33): Show | a0003c0079a0008c0272a0009c0210others(34): Show | a0003c0079t0001a0008c0272t0001a0009c0210t0001others(34): Show | a0003c0079t0001g0019a0008c0272t0001g0185a0009c0210t0001g0209others(34): Show | 37 | 298 | 0.1242 | 7 | c.495 others(22): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 2/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21553070 | A | ATTTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02647.hp2 HG02809.hp2 others(4): Show |
a0005a0052a0053others(4): Show | a0005c0160a0052c0099a0053c0100others(4): Show | a0005c0160t0003a0052c0099t0001a0053c0100t0004others(4): Show | a0005c0160t0003g0010a0052c0099t0001g0109a0053c0100t0004g0009others(4): Show | 7 | 298 | 0.0235 | 7 | c.496 others(24): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 2/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21613934 | A | ATTTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(31): Show |
a0015a0029a0036others(27): Show | a0015c0120a0029c0008a0036c0229others(30): Show | a0015c0120t0002a0029c0008t0001a0036c0229t0005others(30): Show | a0015c0120t0002g0070a0029c0008t0001g0021a0029c0008t0001g0043others(31): Show | 34 | 298 | 0.1141 | 7 | c.385 others(26): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 20/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21726935 | C | CTTTTTTT | intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00621.hp2 others(19): Show |
a0006a0007a0008others(18): Show | a0006c0142a0007c0112a0008c0266others(18): Show | a0006c0142t0003a0007c0112t0006a0008c0266t0005others(18): Show | a0006c0142t0003g0055a0007c0112t0006g0094a0008c0266t0005g0137others(19): Show | 22 | 298 | 0.0738 | 7 | c.744 others(24): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 45/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21795985 | C | CCTCGTAT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(171): Show |
a0002a0003a0004others(126): Show | a0002c0090a0002c0091a0002c0107others(161): Show | a0002c0090t0020a0002c0091t0002a0002c0107t0002others(163): Show | a0002c0090t0020g0027a0002c0091t0002g0015a0002c0107t0002g0067others(171): Show | 174 | 298 | 0.5839 | 7 | c.100 others(28): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21885169 | T | TGTAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(31): Show |
a0002a0006a0014others(25): Show | a0002c0110a0006c0155a0014c0007others(28): Show | a0002c0110t0005a0006c0155t0003a0014c0007t0003others(28): Show | a0002c0110t0005g0245a0006c0155t0003g0022a0014c0007t0003g0288others(31): Show | 34 | 298 | 0.1141 | 7 | c.125 others(26): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 76/81 | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57371941 | C | CAAAAAAA | intron_variant | MODIFIER | HG01169.hp2 HG02622.hp2 HG02717.hp2 others(3): Show |
a0011a0014a0017 | a0011c0018a0014c0014a0017c0063 | a0011c0018t0001a0014c0014t0001a0017c0063t0001 | a0011c0018t0001g0010a0011c0018t0001g0058a0014c0014t0001g0187others(3): Show | 6 | 266 | 0.0226 | 7 | c.875 others(26): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 55/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57476564 | A | AAAAAAAT | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00621.hp1 others(154): Show |
a0001a0004a0005others(43): Show | a0001c0001a0001c0026a0001c0027others(59): Show | a0001c0001t0001a0001c0001t0003a0001c0026t0001others(61): Show | a0001c0001t0001g0145a0001c0001t0001g0149a0001c0001t0001g0170others(154): Show | 157 | 266 | 0.5902 | 7 | c.165 others(26): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 13/73 | chr3 | TogoVar | ||||||
DNAH14_chr1_224924675_225404286 | 225156709 | C | CTTTTTTT | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG03669.hp1 others(2): Show |
a0021a0036a0037others(1): Show | a0021c0034a0036c0120a0037c0121others(1): Show | a0021c0034t0001a0036c0120t0001a0037c0121t0001others(1): Show | a0021c0034t0001g0089a0021c0034t0001g0090a0036c0120t0001g0088others(2): Show | 5 | 240 | 0.0208 | 7 | c.527 others(26): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 34/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225274194 | G | GTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01074.hp1 others(15): Show |
a0001a0011a0016others(2): Show | a0001c0001a0001c0008a0011c0011others(3): Show | a0001c0001t0001a0001c0008t0001a0011c0011t0001others(3): Show | a0001c0001t0001g0034a0001c0001t0001g0105a0001c0001t0001g0132others(15): Show | 18 | 240 | 0.0750 | 7 | c.801 others(26): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 52/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH14_chr1_224924675_225404286 | 225373172 | G | GAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01123.hp2 others(21): Show |
a0004a0006a0011others(16): Show | a0004c0004a0006c0006a0011c0011others(16): Show | a0004c0004t0001a0006c0006t0001a0011c0011t0001others(16): Show | a0004c0004t0001g0074a0006c0006t0001g0109a0006c0006t0001g0137others(21): Show | 24 | 240 | 0.1000 | 7 | c.123 others(28): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 77/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
DNAH17_chr17_78418697_78582396 | 78421898 | A | AGCGGGCG | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG01952.hp2 |
a0009a0032 | a0009c0140a0009c0144a0032c0041 | a0009c0140t0001a0009c0144t0001a0032c0041t0001 | a0009c0140t0001g0071a0009c0144t0001g0093a0032c0041t0001g0009 | 3 | 252 | 0.0119 | 7 | c.*20 others(18): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 1798 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78432204 | A | AAATAAAT | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00733.hp1 others(11): Show |
a0003a0008a0030others(10): Show | a0003c0145a0008c0066a0008c0071others(11): Show | a0003c0145t0002a0008c0066t0002a0008c0071t0002others(11): Show | a0003c0145t0002g0066a0008c0066t0002g0208a0008c0071t0002g0200others(11): Show | 14 | 252 | 0.0556 | 7 | c.122 others(28): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 75/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78446173 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp2 HG01255.hp1 others(9): Show |
a0001a0002a0003others(4): Show | a0001c0008a0001c0105a0001c0114others(8): Show | a0001c0008t0001a0001c0105t0001a0001c0114t0001others(8): Show | a0001c0008t0001g0225a0001c0105t0001g0053a0001c0114t0001g0154others(9): Show | 12 | 252 | 0.0476 | 7 | c.112 others(26): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 69/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78507144 | A | AATTGATT | intron_variant | MODIFIER | HG02647.hp1 HG03471.hp1 NA21309.hp2 |
a0033a0034a0135 | a0033c0074a0034c0073a0135c0194 | a0033c0074t0001a0034c0073t0001a0135c0194t0007 | a0033c0074t0001g0005a0034c0073t0001g0074a0135c0194t0007g0107 | 3 | 252 | 0.0119 | 7 | c.467 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 29/80 | chr17 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78544800 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG02109.hp2 HG02486.hp1 others(4): Show |
a0001a0007a0011others(4): Show | a0001c0109a0007c0151a0011c0007others(4): Show | a0001c0109t0001a0007c0151t0001a0011c0007t0002others(4): Show | a0001c0109t0001g0217a0007c0151t0001g0214a0011c0007t0002g0130others(4): Show | 7 | 252 | 0.0278 | 7 | c.239 others(24): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 16/80 | chr17 | TogoVar | ||||||
DNAH2_chr17_7712744_7838742 | 7838447 | C | CACACACA | downstream_gene_variant | MODIFIER | HG01943.hp1 HG01978.hp2 HG02451.hp1 others(4): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0104a0004c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0104t0002others(4): Show | a0001c0001t0001g0102a0001c0001t0002g0038a0002c0104t0002g0014others(4): Show | 7 | 316 | 0.0222 | 7 | c.*49 others(18): Show |
DNAH2 | ENSG00000183914.15 | transcript | ENST00000572933.6 | protein_coding | 4706 | chr17 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 20957808 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG02080.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0157a0001c0001t0001g0212a0001c0001t0002g0009others(2): Show | 5 | 234 | 0.0214 | 7 | c.106 others(28): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 54/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21020398 | T | TATATATA | intron_variant | MODIFIER | NA18939.hp1 NA18968.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0217a0001c0002t0001g0231 | 2 | 234 | 0.0086 | 7 | c.563 others(24): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 40/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21040358 | A | ATCTTTTT | intron_variant | MODIFIER | HG01257.hp2 HG02040.hp1 HG02735.hp1 others(10): Show |
a0002a0027a0052others(1): Show | a0002c0004a0002c0006a0002c0025others(3): Show | a0002c0004t0001a0002c0004t0002a0002c0006t0001others(4): Show | a0002c0004t0001g0124a0002c0004t0001g0174a0002c0004t0001g0229others(10): Show | 13 | 234 | 0.0556 | 7 | c.450 others(24): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 32/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21131497 | A | AAAGAGAG | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02647.hp2 others(8): Show |
a0007a0010a0011others(4): Show | a0007c0012a0007c0057a0010c0056others(5): Show | a0007c0012t0001a0007c0057t0001a0010c0056t0001others(5): Show | a0007c0012t0001g0179a0007c0012t0001g0182a0007c0012t0001g0183others(8): Show | 11 | 234 | 0.0470 | 7 | c.995 others(24): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 8/61 | chr16 | TogoVar | ||||||
DNAH3_chr16_20928111_21155846 | 21139320 | C | CTTTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00673.hp2 HG02083.hp2 others(14): Show |
a0001a0005a0039others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0159a0001c0001t0002g0004a0001c0001t0002g0009others(14): Show | 17 | 234 | 0.0727 | 7 | c.609 others(24): Show |
DNAH3 | ENSG00000158486.15 | transcript | ENST00000698260.1 | protein_coding | 6/61 | chr16 | TogoVar | ||||||
DNAH5_chr5_13685328_13949688 | 13833131 | C | CAAAAAAA | intron_variant | MODIFIER | HG01070.hp2 HG01243.hp2 HG01361.hp2 others(7): Show |
a0008a0009a0031others(4): Show | a0008c0026a0008c0063a0008c0065others(7): Show | a0008c0026t0002a0008c0063t0006a0008c0065t0002others(7): Show | a0008c0026t0002g0036a0008c0063t0006g0151a0008c0065t0002g0016others(7): Show | 10 | 252 | 0.0397 | 7 | c.588 others(26): Show |
DNAH5 | ENSG00000039139.11 | transcript | ENST00000265104.5 | protein_coding | 35/78 | chr5 | TogoVar | ||||||
DNAH6_chr2_84511498_84824589 | 84557656 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01106.hp1 others(16): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0015a0001c0031others(9): Show | a0001c0001t0001a0001c0015t0001a0001c0031t0001others(9): Show | a0001c0001t0001g0043a0001c0001t0001g0056a0001c0001t0001g0068others(16): Show | 19 | 116 | 0.1638 | 7 | c.160 others(22): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 10/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84605352 | C | CAAAAAAA | intron_variant | MODIFIER | HG02717.hp2 HG02809.hp2 HG02886.hp2 others(7): Show |
a0005a0009a0022 | a0005c0003a0009c0018a0022c0045 | a0005c0003t0001a0009c0018t0002a0022c0045t0001 | a0005c0003t0001g0095a0005c0003t0001g0096a0005c0003t0001g0098others(7): Show | 10 | 116 | 0.0862 | 7 | c.308 others(24): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 19/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH6_chr2_84511498_84824589 | 84693649 | A | AGGAGAAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00735.hp1 others(22): Show |
a0001a0004a0010others(2): Show | a0001c0005a0001c0010a0001c0021others(8): Show | a0001c0005t0001a0001c0010t0001a0001c0021t0001others(8): Show | a0001c0005t0001g0018a0001c0005t0001g0019a0001c0005t0001g0023others(22): Show | 25 | 116 | 0.2155 | 7 | c.729 others(24): Show |
DNAH6 | ENSG00000115423.19 | transcript | ENST00000389394.8 | protein_coding | 45/76 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |