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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFTR_chr7_117475025_117673665 | 117612006 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 202 | 0.0050 | 20 | c.336 others(37): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73449476 | A | AACACACA others(13): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01346.hp1 HG01928.hp1 others(5): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0006a0001c0003t0001a0001c0003t0011others(1): Show | a0001c0002t0006g0010 a0001c0003t0001g0285 a0001c0003t0001g0286 others(3): Show |
8 | 410 | 0.0195 | 20 | c.657 others(37): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73449508 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02735.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0007a0001c0002t0024a0001c0002t0035others(1): Show | a0001c0002t0007g0066 a0001c0002t0024g0100 a0001c0002t0035g0065 others(1): Show |
4 | 410 | 0.0098 | 20 | c.657 others(37): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTTT others(13): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG00642.hp1 HG01891.hp2 others(14): Show |
a0001a0002 | a0001c0002a0002c0001a0002c0005 | a0001c0002t0053a0002c0001t0001a0002c0001t0005others(5): Show | a0001c0002t0053g0126 a0002c0001t0001g0006 a0002c0001t0001g0009 others(14): Show |
17 | 410 | 0.0415 | 20 | c.-13 others(31): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57374287 | A | ATTAGTTC others(13): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01192.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0001 a0001c0001t0002g0208 a0001c0001t0004g0181 |
4 | 294 | 0.0136 | 20 | c.-22 others(31): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 2217 | chr15 | TogoVar | |||||||
CGNL1_chr15_57371505_57555717 | 57405772 | C | CTCTTTCT others(13): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0120 | 1 | 294 | 0.0034 | 20 | c.-16 others(39): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57409037 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0008 | a0002c0008t0017 | a0002c0008t0017g0013 | 1 | 294 | 0.0034 | 20 | c.-15 others(39): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57442182 | G | GAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02717.hp2 HG03471.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0007a0002c0002t0013 | a0001c0001t0001g0188 a0002c0002t0007g0055 a0002c0002t0007g0058 others(2): Show |
5 | 294 | 0.0170 | 20 | c.169 others(37): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57464670 | T | TTTTCCTT others(13): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG01255.hp1 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0013others(6): Show | a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0233 others(10): Show |
13 | 294 | 0.0442 | 20 | c.240 others(39): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27116871 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0321 | 1 | 352 | 0.0028 | 20 | c.-12 others(37): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CGREF1_chr2_27095594_27124128 | 27116923 | C | CTCTCTCT others(13): Show |
intron_variant | MODIFIER | NA19068.hp2 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0071 a0001c0002t0002g0116 |
2 | 352 | 0.0057 | 20 | c.-12 others(37): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
CGRRF1_chr14_54504906_54544292 | 54513566 | T | TTTATGTT others(13): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0214 | 1 | 338 | 0.0030 | 20 | c.104 others(37): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CGRRF1_chr14_54504906_54544292 | 54535359 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | HG02155.hp1 HG02451.hp1 HG03831.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0049 a0001c0001t0001g0086 a0001c0001t0001g0087 others(1): Show |
4 | 338 | 0.0118 | 20 | c.571 others(37): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4401608 | A | AAAGGAAG others(13): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02630.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0140 a0001c0001t0001g0166 others(7): Show |
10 | 384 | 0.0260 | 20 | c.-11 others(31): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 1031 | chr19 | TogoVar | |||||||
CHAF1A_chr19_4397640_4448397 | 4408461 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02040.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 a0001c0001t0001g0264 |
2 | 384 | 0.0052 | 20 | c.104 others(35): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1A_chr19_4397640_4448397 | 4409436 | G | GGCCCGAG others(13): Show |
frameshift_variant | HIGH | NA19076.hp2 | a0017 | a0017c0025 | a0017c0025t0002 | a0017c0025t0002g0102 | 1 | 384 | 0.0026 | 20 | c.638 others(27): Show |
p.Lys others(5): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 3/15 | 781/3366 | 658/2871 | 220/956 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
CHAF1A_chr19_4397640_4448397 | 4411644 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00741.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0002c0002t0002others(1): Show | a0001c0001t0003g0117 a0001c0001t0003g0328 a0001c0001t0003g0330 others(22): Show |
25 | 384 | 0.0651 | 20 | c.960 others(37): Show |
CHAF1A | ENSG00000167670.16 | transcript | ENST00000301280.10 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36389798 | T | TGCGCGCG others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299 | 1 | 346 | 0.0029 | 20 | c.260 others(37): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36389800 | T | TGTGTGCG others(13): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0301 | 1 | 346 | 0.0029 | 20 | c.260 others(37): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHAF1B_chr21_36380392_36424015 | 36389800 | T | TGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0323 | 1 | 346 | 0.0029 | 20 | c.260 others(37): Show |
CHAF1B | ENSG00000159259.8 | transcript | ENST00000314103.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CHAMP1_chr13_114309503_114332322 | 114320955 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01071.hp1 HG03516.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0048 | 2 | 414 | 0.0048 | 20 | c.-17 others(37): Show |
CHAMP1 | ENSG00000198824.8 | transcript | ENST00000361283.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
CHAT_chr10_49609037_49672942 | 49648726 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0220 | 1 | 418 | 0.0024 | 20 | c.138 others(37): Show |
CHAT | ENSG00000070748.19 | transcript | ENST00000337653.7 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CHCHD3_chr7_132779870_133087090 | 132955173 | G | GGGGTGTG others(13): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0309 | 1 | 310 | 0.0032 | 20 | c.369 others(39): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132955173 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01074.hp1 HG02027.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0153 a0001c0001t0001g0159 a0001c0001t0001g0163 others(14): Show |
17 | 310 | 0.0548 | 20 | c.369 others(39): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132963694 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0153 | 1 | 310 | 0.0032 | 20 | c.369 others(39): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 4/7 | chr7 | TogoVar | |||||||
CHCHD3_chr7_132779870_133087090 | 132990951 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02572.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0162 a0001c0001t0001g0189 a0001c0001t0002g0214 others(1): Show |
4 | 310 | 0.0129 | 20 | c.252 others(39): Show |
CHCHD3 | ENSG00000106554.13 | transcript | ENST00000262570.10 | protein_coding | 3/7 | chr7 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126824560 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02258.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0202 a0001c0003t0001g0107 a0001c0003t0001g0109 others(1): Show |
4 | 216 | 0.0185 | 20 | c.412 others(39): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHD1L_chr1_147237684_147300762 | 147299055 | A | AAAAATAA others(13): Show |
downstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 418 | 0.0024 | 20 | c.*35 others(31): Show |
CHD1L | ENSG00000131778.20 | transcript | ENST00000369258.8 | protein_coding | 3294 | chr1 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98911144 | A | AATATATA others(13): Show |
intron_variant | MODIFIER | HG01070.hp2 NA18957.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 a0001c0001t0001g0269 |
2 | 334 | 0.0060 | 20 | c.54- others(35): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD1_chr5_98848985_98934007 | 98917299 | C | CCAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0052 a0001c0003t0006g0053 a0001c0003t0006g0054 others(2): Show |
5 | 334 | 0.0150 | 20 | c.53+ others(35): Show |
CHD1 | ENSG00000153922.12 | transcript | ENST00000614616.5 | protein_coding | 2/35 | chr5 | TogoVar | |||||||
CHD2_chr15_92895324_93032996 | 92999083 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0154 | 1 | 306 | 0.0033 | 20 | c.400 others(37): Show |
CHD2 | ENSG00000173575.24 | transcript | ENST00000394196.9 | protein_coding | 31/38 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CHD5_chr1_6096787_6185321 | 6132880 | T | TTCTCTCT others(13): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0019 | a0001c0019t0085 | a0001c0019t0085g0316 | 1 | 320 | 0.0031 | 20 | c.314 others(39): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 20/41 | chr1 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41419554 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 324 | 0.0031 | 20 | c.612 others(37): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 31/36 | chr20 | TogoVar | |||||||
CHD6_chr20_41397083_41623377 | 41504077 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01934.hp2 NA19068.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 a0001c0001t0002g0227 |
2 | 324 | 0.0062 | 20 | c.853 others(37): Show |
CHD6 | ENSG00000124177.16 | transcript | ENST00000373233.8 | protein_coding | 5/36 | chr20 | TogoVar | |||||||
CHD7_chr8_60673740_60873028 | 60816113 | G | GTCTGTCT others(13): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0021 | a0001c0021t0012 | a0001c0021t0012g0031 | 1 | 236 | 0.0042 | 20 | c.249 others(37): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 7/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHD7_chr8_60673740_60873028 | 60862809 | T | TAATACAT others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG00741.hp2 others(55): Show |
a0001a0006a0007others(2): Show | a0001c0001a0001c0002a0001c0006others(13): Show | a0001c0001t0009a0001c0001t0012a0001c0001t0014others(25): Show | a0001c0001t0009g0224 a0001c0001t0009g0225 a0001c0001t0009g0226 others(55): Show |
58 | 236 | 0.2458 | 20 | c.807 others(37): Show |
CHD7 | ENSG00000171316.14 | transcript | ENST00000423902.7 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CHD8_chr14_21380199_21461123 | 21396566 | T | TTTTATTT others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 260 | 0.0039 | 20 | c.505 others(37): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 27/37 | chr14 | TogoVar | |||||||
CHD8_chr14_21380199_21461123 | 21442680 | A | AGAGGGGA others(13): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03225.hp2 |
a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0239 a0001c0009t0001g0240 |
2 | 260 | 0.0077 | 20 | c.-21 others(41): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | |||||||
CHD8_chr14_21380199_21461123 | 21442738 | C | CGGGAGGA others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01070.hp2 HG01071.hp2 others(12): Show |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0001a0001c0001t0002a0009c0013t0002 | a0001c0001t0001g0085 a0001c0001t0001g0150 a0001c0001t0002g0005 others(12): Show |
15 | 260 | 0.0577 | 20 | c.-21 others(41): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | |||||||
CHD8_chr14_21380199_21461123 | 21454162 | A | AAAAAGAA others(13): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02071.hp1 HG02074.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0135 others(11): Show |
14 | 260 | 0.0539 | 20 | c.-21 others(39): Show |
CHD8 | ENSG00000100888.15 | transcript | ENST00000646647.2 | protein_coding | 1/37 | chr14 | TogoVar | |||||||
CHD9NB_chr16_53036484_53057897 | 53053640 | A | AGATTGAT others(13): Show |
upstream_gene_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0048 | 1 | 406 | 0.0025 | 20 | c.-10 others(31): Show |
CHD9NB | ENSG00000277639.3 | transcript | ENST00000619363.3 | protein_coding | 744 | chr16 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53053640 | A | AGATTGAT others(13): Show |
upstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0005 | 1 | 238 | 0.0042 | 20 | c.-16 others(31): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1350 | chr16 | TogoVar | |||||||
CHD9_chr16_53049991_53332497 | 53070485 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102 | 1 | 238 | 0.0042 | 20 | c.-16 others(41): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53097354 | C | CCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222 | 1 | 238 | 0.0042 | 20 | c.-16 others(41): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53131074 | G | GCCGCCGC others(13): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(232): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0003a0001c0005others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0021 others(232): Show |
235 | 238 | 0.9874 | 20 | c.-16 others(41): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53131074 | G | GCTGCCGC others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0097 | 1 | 238 | 0.0042 | 20 | c.-16 others(41): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53146413 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0061 | 1 | 238 | 0.0042 | 20 | c.-16 others(39): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHD9_chr16_53049991_53332497 | 53146419 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0215 | 1 | 238 | 0.0042 | 20 | c.-16 others(39): Show |
CHD9 | ENSG00000177200.18 | transcript | ENST00000447540.6 | protein_coding | 1/38 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CHDH_chr3_53807335_53851419 | 53810758 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0003 | a0001c0003t0029 | a0001c0003t0029g0170 | 1 | 392 | 0.0026 | 20 | c.*69 others(31): Show |
CHDH | ENSG00000016391.11 | transcript | ENST00000315251.11 | protein_coding | 1576 | chr3 | TogoVar | |||||||
CHEK1_chr11_125620163_125662147 | 125657187 | T | TTTTGTGT others(13): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0044 | 1 | 384 | 0.0026 | 20 | c.*18 others(31): Show |
CHEK1 | ENSG00000149554.15 | transcript | ENST00000438015.7 | protein_coding | 41 | chr11 | TogoVar |