view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFLAR_chr2_201111164_201181687 | 201134640 | TTAAAA | T | intron_variant | MODIFIER | HG00621.hp2 HG02055.hp1 HG02145.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0005a0001c0001t0034a0001c0002t0114others(6): Show | a0001c0001t0005g0162 a0001c0001t0034g0064 a0001c0002t0114g0205 others(6): Show |
9 | 234 | 0.0385 | -5 | c.388 others(22): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CFTR_chr7_117475025_117673665 | 117584930 | GTTTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(106): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0003a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0039 a0001c0001t0001g0053 a0001c0001t0001g0056 others(105): Show |
109 | 202 | 0.5396 | -5 | c.158 others(24): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73426281 | CAAAAT | C | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0013 | a0001c0002t0008g0005 a0001c0002t0008g0119 a0001c0002t0013g0035 |
5 | 410 | 0.0122 | -5 | c.121 others(22): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
CGGBP1_chr3_88046950_88064005 | 88054916 | TTAAGG | T | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01070.hp1 HG01081.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(4): Show | a0001c0001t0005g0008 a0001c0001t0006g0009 a0001c0001t0007g0011 others(5): Show |
32 | 358 | 0.0894 | -5 | c.*55 others(14): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 4/4 | 552 | chr3 | TogoVar | ||||||
CGGBP1_chr3_88046950_88064005 | 88056729 | TACTTC | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(229): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0019 others(31): Show |
232 | 358 | 0.6480 | -5 | c.-24 others(20): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 3/3 | chr3 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57378363 | GTTTTT | G | intron_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG00741.hp1 others(30): Show |
a0001a0002a0004others(7): Show | a0001c0001a0001c0005a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(17): Show | a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 others(30): Show |
33 | 294 | 0.1122 | -5 | c.-16 others(22): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57383595 | CCTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(96): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0005a0001c0011others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(34): Show | a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 others(95): Show |
99 | 294 | 0.3367 | -5 | c.-16 others(22): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57393929 | CTTTTT | C | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01071.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(9): Show | a0001c0001t0001g0165 a0001c0001t0001g0190 a0001c0001t0004g0021 others(18): Show |
21 | 294 | 0.0714 | -5 | c.-16 others(24): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57464670 | TTTTCC | T | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp2 others(49): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0102 a0001c0001t0001g0107 a0001c0001t0001g0118 others(49): Show |
52 | 294 | 0.1769 | -5 | c.240 others(24): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57468234 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG00735.hp1 others(26): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0011others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(13): Show | a0001c0001t0001g0065 a0001c0001t0001g0078 a0001c0001t0001g0109 others(26): Show |
29 | 294 | 0.0986 | -5 | c.240 others(24): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57473899 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00642.hp2 others(36): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0005a0001c0039others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0044 a0001c0001t0001g0126 a0001c0001t0001g0127 others(36): Show |
39 | 294 | 0.1327 | -5 | c.240 others(26): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57510133 | CGATTT | C | intron_variant | MODIFIER | HG02280.hp2 HG02647.hp2 HG02717.hp1 others(3): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0004a0002c0002t0014a0006c0007t0009 | a0001c0001t0004g0047 a0001c0001t0004g0146 a0001c0001t0004g0163 others(3): Show |
6 | 294 | 0.0204 | -5 | c.240 others(24): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57543222 | CCACTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00423.hp1 others(42): Show |
a0002a0005a0007others(2): Show | a0002c0002a0002c0008a0002c0026others(5): Show | a0002c0002t0003a0002c0002t0018a0002c0008t0003others(9): Show | a0002c0002t0003g0031 a0002c0002t0003g0041 a0002c0002t0003g0068 others(42): Show |
45 | 294 | 0.1531 | -5 | c.329 others(22): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27116919 | CTCTCT | C | intron_variant | MODIFIER | HG01106.hp2 HG02071.hp2 NA19086.hp1 |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0001a0001c0002t0001a0003c0005t0001 | a0001c0001t0001g0262 a0001c0002t0001g0161 a0003c0005t0001g0261 |
3 | 352 | 0.0085 | -5 | c.-12 others(22): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CGRRF1_chr14_54504906_54544292 | 54504964 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00597.hp1 HG01099.hp1 HG01243.hp1 others(36): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0008 a0002c0002t0002g0012 a0002c0002t0002g0013 others(24): Show |
39 | 338 | 0.1154 | -5 | c.-49 others(16): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 4941 | chr14 | TogoVar | |||||||
CGRRF1_chr14_54504906_54544292 | 54513566 | TTTATG | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(127): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(72): Show |
130 | 338 | 0.3846 | -5 | c.104 others(22): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4419029 | ATTTTT | A | intron_variant | MODIFIER | HG00621.hp2 HG00735.hp1 HG01891.hp1 others(8): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0003a0001c0001t0004a0007c0010t0006 | a0001c0001t0003g0323 a0001c0001t0003g0324 a0001c0001t0003g0326 others(8): Show |
11 | 384 | 0.0287 | -5 | c.101 others(22): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4427136 | CTTTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG00738.hp1 HG01070.hp1 others(11): Show |
a0002a0005 | a0002c0002a0002c0011a0005c0006 | a0002c0002t0002a0002c0002t0011a0002c0011t0002others(1): Show | a0002c0002t0002g0018 a0002c0002t0002g0030 a0002c0002t0002g0032 others(11): Show |
14 | 384 | 0.0365 | -5 | c.137 others(24): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36383467 | CTGAGT | C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0041 a0001c0001t0001g0090 a0001c0001t0014g0065 others(1): Show |
4 | 346 | 0.0116 | -5 | c.-20 others(16): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 1924 | chr21 | TogoVar | |||||||
CHAF1B_chr21_36380392_36424015 | 36405042 | CGCCCA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(181): Show |
a0001a0003a0007 | a0001c0001a0001c0010a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(171): Show |
184 | 346 | 0.5318 | -5 | c.757 others(22): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHAMP1_chr13_114309503_114332322 | 114312771 | AAAAAG | A | upstream_gene_variant | MODIFIER | HG02818.hp1 HG02886.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0004 a0001c0003t0001g0012 a0001c0003t0001g0064 |
6 | 414 | 0.0145 | -5 | c.-20 others(16): Show |
CHAMP1 | ENSG00000198824.8 | transcript | ENST00000361283.4 | protein_coding | 1731 | chr13 | TogoVar | |||||||
CHAMP1_chr13_114309503_114332322 | 114318857 | CTTTTT | C | intron_variant | MODIFIER | HG00733.hp2 HG01255.hp1 HG01433.hp2 others(31): Show |
a0001a0002a0009 | a0001c0002a0001c0010a0002c0006others(1): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0008others(3): Show | a0001c0002t0001g0007 a0001c0002t0001g0016 a0001c0002t0001g0055 others(15): Show |
34 | 414 | 0.0821 | -5 | c.-17 others(24): Show |
CHAMP1 | ENSG00000198824.8 | transcript | ENST00000361283.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CHAMP1_chr13_114309503_114332322 | 114318882 | TTTTTA | T | intron_variant | MODIFIER | HG02818.hp1 HG02886.hp2 HG02895.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012 a0001c0003t0001g0028 a0001c0003t0001g0058 others(2): Show |
9 | 414 | 0.0217 | -5 | c.-17 others(24): Show |
CHAMP1 | ENSG00000198824.8 | transcript | ENST00000361283.4 | protein_coding | 1/2 | chr13 | TogoVar | |||||||
CHAT_chr10_49609037_49672942 | 49630155 | TCAGTA | T | intron_variant | MODIFIER | HG01243.hp2 HG02630.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0254 a0001c0001t0003g0031 a0001c0001t0003g0032 |
3 | 418 | 0.0072 | -5 | c.111 others(24): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CHAT_chr10_49609037_49672942 | 49644660 | CAGAGT | C | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp1 HG01943.hp1 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0008others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0318 a0001c0001t0003g0353 a0001c0001t0004g0109 others(8): Show |
12 | 418 | 0.0287 | -5 | c.111 others(24): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132822820 | AAAAAC | A | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01109.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(9): Show |
12 | 310 | 0.0387 | -5 | c.524 others(24): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 6/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132849976 | CTATTT | C | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00609.hp2 others(44): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0002c0002t0001 | a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 others(44): Show |
47 | 310 | 0.1516 | -5 | c.454 others(24): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 5/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 133012786 | AGAGGG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(210): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(210): Show |
213 | 310 | 0.6871 | -5 | c.251 others(24): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | |||||||
CHCHD5_chr2_112579609_112594040 | 112580082 | ATTTTT | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(111): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(16): Show |
114 | 444 | 0.2568 | -5 | c.-45 others(16): Show |
CHCHD5 | ENSG00000125611.16 | transcript | ENST00000324913.10 | protein_coding | 4526 | chr2 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126808454 | CATGTT | C | intron_variant | MODIFIER | NA18612.hp1 NA19009.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 a0002c0002t0001g0061 |
2 | 216 | 0.0093 | -5 | c.412 others(24): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126892953 | GTTGTT | G | intron_variant | MODIFIER | HG00323.hp1 HG01123.hp1 HG01167.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(3): Show |
6 | 216 | 0.0278 | -5 | c.496 others(24): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCHD6_chr3_126699240_126965420 | 126913207 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(47): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0087 others(47): Show |
50 | 216 | 0.2315 | -5 | c.496 others(22): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHCT1_chr17_60417489_60436426 | 60420069 | GTTTAT | G | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG00738.hp1 others(77): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0004t0001g0037 others(18): Show |
80 | 322 | 0.2485 | -5 | c.-25 others(16): Show |
CHCT1 | ENSG00000141371.13 | transcript | ENST00000269127.5 | protein_coding | 2419 | chr17 | TogoVar | |||||||
CHD1L_chr1_147237684_147300762 | 147298705 | ATTTAT | A | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02129.hp1 HG02257.hp1 others(13): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0003 a0004c0005t0002g0060 a0004c0005t0002g0061 others(9): Show |
16 | 418 | 0.0383 | -5 | c.*31 others(16): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 2944 | chr1 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98883856 | TATATA | T | intron_variant | MODIFIER | HG01099.hp2 HG02074.hp1 HG02647.hp1 others(7): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0171 others(7): Show |
10 | 334 | 0.0299 | -5 | c.256 others(22): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98883857 | ATATAT | A | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00738.hp2 others(37): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0047 a0001c0001t0001g0138 others(35): Show |
40 | 334 | 0.1198 | -5 | c.256 others(22): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98883859 | ATATTT | A | intron_variant | MODIFIER | HG01167.hp1 HG02109.hp2 HG04204.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0030 | a0001c0001t0001g0090 a0001c0001t0001g0147 a0001c0001t0001g0159 others(4): Show |
7 | 334 | 0.0210 | -5 | c.256 others(22): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 18/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98903308 | TTGTTA | T | intron_variant | MODIFIER | HG04199.hp1 NA18947.hp2 NA18950.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0007a0002c0002t0018 | a0002c0002t0007g0008 a0002c0002t0007g0009 a0002c0002t0007g0010 others(2): Show |
5 | 334 | 0.0150 | -5 | c.373 others(20): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
CHD2_chr15_92895324_93032996 | 92965565 | CAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG00673.hp2 HG02257.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0007 a0001c0001t0003g0274 a0001c0001t0005g0179 others(6): Show |
9 | 306 | 0.0294 | -5 | c.200 others(24): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 92999083 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00642.hp2 others(49): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(14): Show | a0001c0001t0001g0007 a0001c0001t0001g0016 a0001c0001t0006g0266 others(49): Show |
52 | 306 | 0.1699 | -5 | c.400 others(22): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 31/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 93010319 | CTTCTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00639.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0020a0001c0002t0001others(12): Show | a0001c0001t0001g0016 a0001c0001t0020g0113 a0001c0002t0001g0234 others(35): Show |
38 | 306 | 0.1242 | -5 | c.459 others(24): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 35/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD2_chr15_92895324_93032996 | 93015531 | TAACTG | T | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG01169.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0141 a0001c0002t0001g0091 a0001c0002t0001g0286 others(9): Show |
13 | 306 | 0.0425 | -5 | c.490 others(22): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 37/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7912881 | CTTAGA | C | downstream_gene_variant | MODIFIER | NA18942.hp2 NA18944.hp1 NA18982.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0011t0001 | a0001c0001t0001g0003 a0001c0011t0001g0003 |
3 | 366 | 0.0082 | -5 | c.*12 others(16): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 127 | chr17 | TogoVar | |||||||
CHD4_chr12_6565082_6612379 | 6574479 | CTTAAT | C | intron_variant | MODIFIER | HG00438.hp1 NA18944.hp1 NA18951.hp2 others(6): Show |
a0002 | a0002c0001a0002c0017 | a0002c0001t0001a0002c0017t0001 | a0002c0001t0001g0012 a0002c0001t0001g0022 a0002c0001t0001g0165 others(3): Show |
9 | 374 | 0.0241 | -5 | c.536 others(24): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 37/39 | chr12 | TogoVar | |||||||
CHD4_chr12_6565082_6612379 | 6607669 | CCAACA | C | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01175.hp1 HG01255.hp1 others(14): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0002c0005others(1): Show | a0001c0002t0001a0002c0001t0001a0002c0005t0001others(1): Show | a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0233 others(14): Show |
17 | 374 | 0.0455 | -5 | c.-45 others(14): Show |
CHD4 | ENSG00000111642.16 | transcript | ENST00000544040.7 | protein_coding | 291 | chr12 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41419554 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp1 HG01071.hp2 others(13): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0005t0007 | a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0227 others(13): Show |
16 | 324 | 0.0494 | -5 | c.612 others(22): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 31/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41448110 | AAAAAC | A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG00733.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 a0001c0001t0001g0072 a0001c0001t0001g0088 others(13): Show |
16 | 324 | 0.0494 | -5 | c.368 others(22): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 23/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41478991 | AAAAAG | A | intron_variant | MODIFIER | HG00642.hp1 HG01361.hp2 HG02451.hp2 others(12): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0007 | a0001c0001t0001a0001c0003t0001a0005c0007t0001 | a0001c0001t0001g0211 a0001c0003t0001g0284 a0001c0003t0001g0285 others(12): Show |
15 | 324 | 0.0463 | -5 | c.246 others(24): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 16/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41501995 | CTAATT | C | intron_variant | MODIFIER | HG02004.hp1 HG02273.hp1 HG03490.hp1 others(6): Show |
a0002a0007a0014 | a0002c0004a0007c0012a0014c0028 | a0002c0004t0004a0007c0012t0004a0014c0028t0001 | a0002c0004t0004g0311 a0002c0004t0004g0312 a0002c0004t0004g0313 others(6): Show |
9 | 324 | 0.0278 | -5 | c.853 others(22): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 5/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41562840 | TGGGTC | T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp1 others(56): Show |
a0001a0004a0006 | a0001c0001a0004c0006a0006c0009 | a0001c0001t0002a0001c0001t0006a0004c0006t0002others(1): Show | a0001c0001t0002g0149 a0001c0001t0002g0195 a0001c0001t0002g0196 others(56): Show |
59 | 324 | 0.1821 | -5 | c.-23 others(24): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 1/36 | chr20 | TogoVar |