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 | 72879356 | T | TTTCCC | intron_variant | MODIFIER | HG01074.hp2 HG01516.hp1 HG01516.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008a0001c0001t0009others(4): Show | a0001c0001t0003g0039a0001c0001t0003g0040a0001c0001t0003g0041others(9): Show | 12 | 54 | 0.2222 | 5 | c.-94 others(22): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72880587 | G | GTTTGC | intron_variant | MODIFIER | HG02257.hp2 HG02886.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0018 | a0001c0001t0010g0053a0001c0001t0010g0054a0001c0001t0018g0023 | 3 | 54 | 0.0556 | 5 | c.-94 others(22): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72893391 | A | AACTAG | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0039 | 1 | 54 | 0.0185 | 5 | c.-94 others(24): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC1_chrX_72867025_72948837 | 72903205 | T | TTCAAC | intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0005 | 1 | 54 | 0.0185 | 5 | c.-94 others(24): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | ||||||
DMRTC2_chr19_41840042_41857333 | 41843032 | T | TAAAAA | upstream_gene_variant | MODIFIER | HG01943.hp2 HG02647.hp1 HG03130.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0028others(1): Show | 6 | 402 | 0.0149 | 5 | c.-20 others(16): Show |
DMRTC2 | ENSG00000142025.16 | transcript | ENST00000269945.8 | protein_coding | 2009 | chr19 | TogoVar | ||||||
DMTF1_chr7_87147453_87201325 | 87173488 | T | TTTTTG | intron_variant | MODIFIER | HG00544.hp2 HG01358.hp1 HG01433.hp1 others(13): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0008a0001c0003t0003g0012a0001c0003t0003g0018others(3): Show | 16 | 362 | 0.0442 | 5 | c.328 others(18): Show |
DMTF1 | ENSG00000135164.19 | transcript | ENST00000331242.12 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22061749 | A | ATTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01175.hp2 HG02109.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0003a0001c0001t0007a0001c0007t0007others(1): Show | a0001c0001t0003g0078a0001c0001t0003g0079a0001c0001t0003g0080others(5): Show | 8 | 324 | 0.0247 | 5 | c.-17 others(24): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22072631 | A | ATTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00642.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0168a0001c0001t0001g0217a0001c0001t0001g0218others(29): Show | 38 | 324 | 0.1173 | 5 | c.729 others(20): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
DMTN_chr8_22051814_22087525 | 22079301 | T | TATATA | intron_variant | MODIFIER | HG00408.hp2 HG01346.hp2 HG01975.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0001g0094a0001c0001t0001g0108others(4): Show | 9 | 324 | 0.0278 | 5 | c.836 others(20): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | chr8 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119089999 | C | CTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01099.hp2 others(9): Show |
a0001a0002a0023 | a0001c0001a0002c0003a0023c0029 | a0001c0001t0001a0001c0001t0004a0002c0003t0001others(1): Show | a0001c0001t0001g0031a0001c0001t0001g0168a0001c0001t0001g0169others(9): Show | 12 | 238 | 0.0504 | 5 | c.88- others(20): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 1/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL1_chr5_119066087_119254127 | 119182621 | A | ATAAGT | intron_variant | MODIFIER | HG00544.hp1 HG01891.hp1 HG02055.hp2 others(12): Show |
a0001a0009a0012others(3): Show | a0001c0004a0009c0010a0012c0016others(3): Show | a0001c0004t0003a0009c0010t0007a0012c0016t0013others(3): Show | a0001c0004t0003g0005a0001c0004t0003g0007a0001c0004t0003g0008others(12): Show | 15 | 238 | 0.0630 | 5 | c.713 others(24): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 28/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
DMXL2_chr15_51442791_51627771 | 51567042 | C | CTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG02145.hp2 HG02897.hp1 others(12): Show |
a0002a0007 | a0002c0002a0002c0006a0002c0031others(2): Show | a0002c0002t0001a0002c0006t0001a0002c0031t0001others(2): Show | a0002c0002t0001g0215a0002c0002t0001g0246a0002c0002t0001g0261others(12): Show | 15 | 346 | 0.0434 | 5 | c.285 others(22): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 3/43 | chr15 | TogoVar | ||||||
DNA2_chr10_68409064_68476973 | 68437669 | A | AAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(224): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0153others(222): Show | 227 | 326 | 0.6963 | 5 | c.141 others(22): Show |
DNA2 | ENSG00000138346.16 | transcript | ENST00000358410.8 | protein_coding | 9/20 | chr10 | TogoVar | ||||||
DNAAF10_chr2_68124805_68162527 | 68126985 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00621.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(39): Show | 51 | 432 | 0.1181 | 5 | c.*42 others(16): Show |
DNAAF10 | ENSG00000243667.7 | transcript | ENST00000295121.11 | protein_coding | 2819 | chr2 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55163312 | A | ATTTTT | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp1 HG02165.hp2 others(19): Show |
a0001a0002a0004 | a0001c0004a0002c0003a0004c0005 | a0001c0004t0001a0002c0003t0001a0004c0005t0001 | a0001c0004t0001g0156a0002c0003t0001g0009a0002c0003t0001g0030others(7): Show | 22 | 398 | 0.0553 | 5 | c.323 others(22): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4/11 | chr19 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55433897 | A | ATATAT | intron_variant | MODIFIER | HG02109.hp1 HG03098.hp1 HG03486.hp2 others(2): Show |
a0005 | a0005c0004 | a0005c0004t0003a0005c0004t0005 | a0005c0004t0003g0066a0005c0004t0003g0258a0005c0004t0003g0259others(2): Show | 5 | 338 | 0.0148 | 5 | c.104 others(24): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55433939 | A | ATATTT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00609.hp1 others(43): Show |
a0002a0009 | a0002c0002a0009c0009 | a0002c0002t0001a0002c0002t0006a0009c0009t0001 | a0002c0002t0001g0065a0002c0002t0001g0067a0002c0002t0001g0068others(43): Show | 46 | 338 | 0.1361 | 5 | c.104 others(22): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 8/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55469474 | C | CTTTTT | intron_variant | MODIFIER | HG01169.hp2 HG01358.hp1 HG01981.hp2 others(16): Show |
a0001a0005a0006 | a0001c0001a0005c0004a0006c0006 | a0001c0001t0001a0005c0004t0003a0006c0006t0001 | a0001c0001t0001g0082a0001c0001t0001g0159a0001c0001t0001g0179others(16): Show | 19 | 338 | 0.0562 | 5 | c.406 others(22): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
DNAAF4_chr15_55425308_55513234 | 55483833 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp1 HG01943.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061a0001c0001t0001g0082a0001c0001t0001g0134others(8): Show | 11 | 338 | 0.0325 | 5 | c.405 others(22): Show |
DNAAF4 | ENSG00000256061.7 | transcript | ENST00000321149.7 | protein_coding | 4/9 | chr15 | TogoVar | ||||||
DNAAF5_chr7_721699_791475 | 726577 | G | GACGAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(150): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0019others(11): Show | a0001c0001t0003a0001c0001t0004a0001c0004t0001others(18): Show | a0001c0001t0003g0320a0001c0001t0004g0021a0001c0001t0004g0022others(133): Show | 153 | 378 | 0.4048 | 5 | c.-14 others(14): Show |
DNAAF5 | ENSG00000164818.16 | transcript | ENST00000297440.11 | protein_coding | 121 | chr7 | TogoVar | ||||||
DNAAF6_chrX_107201611_107249247 | 107229127 | C | CTTTTT | intron_variant | MODIFIER | HG02027.hp1 HG06807.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130a0001c0001t0001g0212a0001c0001t0001g0219 | 3 | 296 | 0.0101 | 5 | c.429 others(22): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DNAAF6_chrX_107201611_107249247 | 107244858 | A | AGAGAG | downstream_gene_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 296 | 0.0034 | 5 | c.*15 others(16): Show |
DNAAF6 | ENSG00000080572.14 | transcript | ENST00000372453.8 | protein_coding | 612 | chrX | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3268897 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp1 others(68): Show |
a0001a0012 | a0001c0002a0001c0006a0001c0007others(4): Show | a0001c0002t0002a0001c0002t0014a0001c0002t0016others(13): Show | a0001c0002t0002g0063a0001c0002t0002g0065a0001c0002t0002g0114others(68): Show | 71 | 362 | 0.1961 | 5 | c.278 others(24): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 30/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3293292 | C | CAAAAA | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00738.hp1 others(32): Show |
a0001a0005a0010others(1): Show | a0001c0003a0001c0020a0005c0022others(2): Show | a0001c0003t0004a0001c0003t0005a0001c0003t0009others(6): Show | a0001c0003t0004g0007a0001c0003t0004g0023a0001c0003t0004g0025others(32): Show | 35 | 362 | 0.0967 | 5 | c.223 others(22): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 25/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3319262 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(36): Show |
a0001a0008a0012 | a0001c0002a0001c0007a0001c0010others(2): Show | a0001c0002t0002a0001c0002t0016a0001c0002t0020others(6): Show | a0001c0002t0002g0063a0001c0002t0002g0065a0001c0002t0002g0113others(36): Show | 39 | 362 | 0.1077 | 5 | c.135 others(22): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 16/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3335757 | C | CAAAAA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG02074.hp2 others(31): Show |
a0001 | a0001c0001a0001c0004a0001c0018 | a0001c0001t0003a0001c0004t0003a0001c0004t0018others(4): Show | a0001c0001t0003g0318a0001c0004t0003g0069a0001c0004t0003g0074others(31): Show | 34 | 362 | 0.0939 | 5 | c.982 others(22): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 10/36 | chr20 | TogoVar | ||||||
DNAAF9_chr20_3244306_3412669 | 3357629 | G | GCTTAT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(161): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0018others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(15): Show | a0001c0001t0001g0062a0001c0001t0001g0205a0001c0001t0001g0207others(161): Show | 164 | 362 | 0.4530 | 5 | c.690 others(22): Show |
DNAAF9 | ENSG00000088854.13 | transcript | ENST00000252032.10 | protein_coding | 7/36 | chr20 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123765585 | T | TATCTA | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02486.hp2 others(4): Show |
a0001a0008a0016others(3): Show | a0001c0059a0008c0008a0016c0020others(3): Show | a0001c0059t0002a0008c0008t0001a0016c0020t0001others(3): Show | a0001c0059t0002g0014a0008c0008t0001g0013a0008c0008t0001g0019others(4): Show | 7 | 170 | 0.0412 | 5 | c.215 others(22): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 1/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123782329 | G | GCCTCC | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(73): Show |
a0001a0003a0004others(26): Show | a0001c0001a0001c0002a0001c0003others(34): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(34): Show | a0001c0001t0001g0020a0001c0001t0001g0025a0001c0001t0001g0026others(73): Show | 76 | 170 | 0.4471 | 5 | c.842 others(20): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 6/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123866229 | C | CTTTTT | intron_variant | MODIFIER | HG01071.hp1 HG01074.hp2 HG01175.hp1 others(10): Show |
a0001a0002a0023others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(5): Show | a0001c0001t0001g0026a0001c0001t0001g0064a0001c0001t0001g0089others(10): Show | 13 | 170 | 0.0765 | 5 | c.716 others(22): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 41/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21545274 | T | TAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(39): Show |
a0002a0003a0004others(33): Show | a0002c0107a0003c0010a0004c0054others(38): Show | a0002c0107t0002a0003c0010t0001a0004c0054t0002others(39): Show | a0002c0107t0002g0067a0003c0010t0001g0062a0004c0054t0002g0063others(39): Show | 42 | 298 | 0.1409 | 5 | c.495 others(20): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 2/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21574867 | C | CTTTTT | intron_variant | MODIFIER | NA18949.hp1 NA18955.hp2 NA18956.hp2 others(6): Show |
a0002a0005a0007others(6): Show | a0002c0107a0005c0115a0007c0112others(6): Show | a0002c0107t0002a0005c0115t0001a0007c0112t0006others(6): Show | a0002c0107t0002g0067a0005c0115t0001g0098a0007c0112t0006g0094others(6): Show | 9 | 298 | 0.0302 | 5 | c.159 others(24): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 8/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21612554 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00597.hp2 others(29): Show |
a0015a0029a0037others(26): Show | a0015c0120a0015c0124a0029c0008others(28): Show | a0015c0120t0002a0015c0124t0002a0029c0008t0001others(28): Show | a0015c0120t0002g0070a0015c0124t0002g0103a0029c0008t0001g0021others(29): Show | 32 | 298 | 0.1074 | 5 | c.385 others(24): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 20/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21619936 | A | ATTAAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(175): Show |
a0001a0002a0004others(133): Show | a0001c0001a0002c0090a0002c0091others(163): Show | a0001c0001t0004a0002c0090t0020a0002c0091t0002others(165): Show | a0001c0001t0004g0253a0001c0001t0004g0277a0002c0090t0020g0027others(175): Show | 178 | 298 | 0.5973 | 5 | c.437 others(20): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 24/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21664134 | G | GTTTTT | intron_variant | MODIFIER | HG01993.hp1 HG02257.hp1 HG02622.hp1 others(4): Show |
a0050a0053a0129others(4): Show | a0050c0134a0053c0100a0129c0066others(4): Show | a0050c0134t0001a0053c0100t0004a0129c0066t0003others(4): Show | a0050c0134t0001g0078a0053c0100t0004g0009a0129c0066t0003g0090others(4): Show | 7 | 298 | 0.0235 | 5 | c.532 others(24): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 30/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21678327 | T | TCTATC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(137): Show |
a0001a0003a0004others(119): Show | a0001c0001a0001c0002a0003c0079others(127): Show | a0001c0001t0004a0001c0002t0004a0003c0079t0001others(127): Show | a0001c0001t0004g0253a0001c0002t0004g0296a0001c0002t0004g0297others(137): Show | 140 | 298 | 0.4698 | 5 | c.532 others(24): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 30/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21718188 | G | GTTTTT | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 NA18949.hp2 others(1): Show |
a0008a0017a0031 | a0008c0262a0017c0016a0031c0263 | a0008c0262t0001a0017c0016t0003a0031c0263t0002 | a0008c0262t0001g0139a0017c0016t0003g0172a0017c0016t0003g0173others(1): Show | 4 | 298 | 0.0134 | 5 | c.713 others(22): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 43/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789808 | T | TCTTTC | intron_variant | MODIFIER | HG00597.hp1 HG01167.hp2 HG01993.hp2 others(20): Show |
a0002a0003a0007others(19): Show | a0002c0107a0002c0141a0003c0084others(20): Show | a0002c0107t0002a0002c0141t0002a0003c0084t0001others(20): Show | a0002c0107t0002g0067a0002c0141t0002g0026a0003c0084t0001g0032others(20): Show | 23 | 298 | 0.0772 | 5 | c.100 others(24): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21804082 | T | TTTTTG | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG01981.hp2 others(15): Show |
a0047a0050a0083others(15): Show | a0047c0175a0050c0134a0083c0145others(15): Show | a0047c0175t0001a0050c0134t0001a0083c0145t0001others(15): Show | a0047c0175t0001g0001a0050c0134t0001g0078a0083c0145t0001g0240others(15): Show | 18 | 298 | 0.0604 | 5 | c.101 others(26): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 62/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21873784 | C | CTTTTT | intron_variant | MODIFIER | HG01081.hp1 HG01884.hp1 HG01891.hp1 others(8): Show |
a0006a0012a0017others(8): Show | a0006c0161a0012c0169a0017c0016others(8): Show | a0006c0161t0008a0012c0169t0008a0017c0016t0003others(8): Show | a0006c0161t0008g0099a0012c0169t0008g0116a0017c0016t0003g0173others(8): Show | 11 | 298 | 0.0369 | 5 | c.121 others(24): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 74/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21874329 | T | TTTTTG | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00738.hp1 others(31): Show |
a0001a0004a0012others(26): Show | a0001c0001a0001c0002a0004c0009others(27): Show | a0001c0001t0004a0001c0002t0004a0004c0009t0004others(27): Show | a0001c0001t0004g0253a0001c0001t0004g0277a0001c0002t0004g0296others(31): Show | 34 | 298 | 0.1141 | 5 | c.121 others(24): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 74/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21874334 | T | TTTTTG | intron_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01069.hp2 others(44): Show |
a0006a0008a0012others(41): Show | a0006c0161a0008c0266a0012c0169others(42): Show | a0006c0161t0008a0008c0266t0005a0012c0169t0008others(42): Show | a0006c0161t0008g0099a0008c0266t0005g0137a0012c0169t0008g0116others(44): Show | 47 | 298 | 0.1577 | 5 | c.121 others(24): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 74/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH11_chr7_21538039_21906839 | 21885169 | T | TGTAAA | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00423.hp2 others(57): Show |
a0002a0004a0006others(46): Show | a0002c0090a0002c0107a0004c0009others(54): Show | a0002c0090t0020a0002c0107t0002a0004c0009t0002others(55): Show | a0002c0090t0020g0027a0002c0107t0002g0067a0004c0009t0002g0038others(57): Show | 60 | 298 | 0.2013 | 5 | c.125 others(24): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 76/81 | chr7 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21900740 | A | ATTCTC | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(47): Show |
a0006a0014a0017others(35): Show | a0006c0142a0006c0146a0006c0155others(43): Show | a0006c0142t0003a0006c0146t0003a0006c0155t0003others(43): Show | a0006c0142t0003g0055a0006c0146t0003g0048a0006c0155t0003g0022others(47): Show | 50 | 298 | 0.1678 | 5 | c.133 others(24): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 81/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
DNAH12_chr3_57288700_57549344 | 57288708 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01192.hp1 others(36): Show |
a0001a0002a0009others(6): Show | a0001c0001a0001c0026a0001c0085others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0026t0001others(10): Show | a0001c0001t0001g0145a0001c0001t0001g0149a0001c0001t0001g0173others(36): Show | 39 | 266 | 0.1466 | 5 | c.*50 others(16): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 4991 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57333329 | C | CTTTTT | intron_variant | MODIFIER | HG01169.hp2 HG01934.hp1 HG02615.hp1 others(6): Show |
a0011a0013a0014others(2): Show | a0011c0043a0013c0009a0014c0014others(2): Show | a0011c0043t0002a0013c0009t0001a0014c0014t0001others(2): Show | a0011c0043t0002g0079a0013c0009t0001g0116a0014c0014t0001g0187others(6): Show | 9 | 266 | 0.0338 | 5 | c.997 others(24): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 62/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57406356 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00639.hp2 others(68): Show |
a0001a0005a0008others(10): Show | a0001c0001a0001c0026a0001c0027others(16): Show | a0001c0001t0001a0001c0001t0003a0001c0026t0001others(17): Show | a0001c0001t0001g0145a0001c0001t0001g0149a0001c0001t0001g0170others(68): Show | 71 | 266 | 0.2669 | 5 | c.627 others(22): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 40/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57420908 | C | CAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01255.hp2 others(6): Show |
a0001a0009a0011others(5): Show | a0001c0001a0009c0025a0011c0043others(5): Show | a0001c0001t0003a0009c0025t0003a0011c0043t0002others(5): Show | a0001c0001t0003g0001a0001c0001t0003g0003a0009c0025t0003g0004others(6): Show | 9 | 266 | 0.0338 | 5 | c.556 others(22): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 36/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57424470 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00733.hp1 others(30): Show |
a0002a0003a0006others(6): Show | a0002c0002a0003c0003a0003c0044others(7): Show | a0002c0002t0001a0003c0003t0001a0003c0044t0001others(7): Show | a0002c0002t0001g0216a0003c0003t0001g0013a0003c0003t0001g0017others(30): Show | 33 | 266 | 0.1241 | 5 | c.537 others(22): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 35/73 | chr3 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57435373 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00621.hp1 others(56): Show |
a0001a0005a0007others(16): Show | a0001c0001a0001c0026a0001c0085others(22): Show | a0001c0001t0001a0001c0026t0001a0001c0085t0001others(22): Show | a0001c0001t0001g0184a0001c0001t0001g0188a0001c0001t0001g0192others(56): Show | 59 | 266 | 0.2218 | 5 | c.465 others(24): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 30/73 | chr3 | TogoVar |