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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TTLL10_chr1_1168880_1202936 | 1184689 | C | CCCCCGTG others(425): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0006 | a0006c0045 | a0006c0045t0003 | a0006c0045t0003g0077 | 1 | 382 | 0.0026 | 432 | c.126 others(449): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TTLL10_chr1_1168880_1202936 | 1184927 | G | GGACAGTC others(425): Show |
conservative_inframe_insertion | MODERATE | HG00438.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0192 | 1 | 382 | 0.0026 | 432 | c.127 others(441): Show |
p.Lys others(445): Show |
TTLL10 | ENSG00000162571.14 | transcript | ENST00000379289.6 | protein_coding | 13/16 | 1450/2288 | 1273/2022 | 425/673 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
TTLL8_chr22_50013575_50063298 | 50028931 | C | CCCCACAC others(425): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0009 | a0009c0018 | a0009c0018t0002 | a0009c0018t0002g0112 | 1 | 224 | 0.0045 | 432 | c.225 others(451): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | |||||||
TUBA8_chr22_18105809_18136732 | 18106374 | C | CGTGGTTC others(425): Show |
upstream_gene_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0234 | 1 | 426 | 0.0024 | 432 | c.-44 others(443): Show |
TUBA8 | ENSG00000183785.16 | transcript | ENST00000330423.8 | protein_coding | 4434 | chr22 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5370131 | A | ATATGTGT others(425): Show |
intron_variant | MODIFIER | NA19058.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0099 | 1 | 468 | 0.0021 | 432 | c.-6- others(447): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UNC5D_chr8_35230475_35801540 | 35248144 | T | TATATAAT others(425): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 64 | 0.0156 | 432 | c.103 others(451): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
USF1_chr1_161034251_161050977 | 161035893 | A | ACAGAAGA others(425): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(87): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0027 others(15): Show |
90 | 396 | 0.2273 | 432 | c.*40 others(443): Show |
USF1 | ENSG00000158773.14 | transcript | ENST00000368021.7 | protein_coding | 3357 | chr1 | TogoVar | |||||||
USF1_chr1_161034251_161050977 | 161035893 | A | ACAGAAGA others(425): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 | 1 | 396 | 0.0025 | 432 | c.*40 others(443): Show |
USF1 | ENSG00000158773.14 | transcript | ENST00000368021.7 | protein_coding | 3357 | chr1 | TogoVar | |||||||
USF1_chr1_161034251_161050977 | 161035893 | A | ACAGAAGA others(425): Show |
downstream_gene_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 396 | 0.0025 | 432 | c.*40 others(443): Show |
USF1 | ENSG00000158773.14 | transcript | ENST00000368021.7 | protein_coding | 3357 | chr1 | TogoVar | |||||||
USF1_chr1_161034251_161050977 | 161035893 | A | ACAGAAGA others(425): Show |
downstream_gene_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 396 | 0.0025 | 432 | c.*40 others(443): Show |
USF1 | ENSG00000158773.14 | transcript | ENST00000368021.7 | protein_coding | 3357 | chr1 | TogoVar | |||||||
USF1_chr1_161034251_161050977 | 161035893 | A | ACAGAAGA others(425): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(297): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(80): Show |
300 | 396 | 0.7576 | 432 | c.*40 others(443): Show |
USF1 | ENSG00000158773.14 | transcript | ENST00000368021.7 | protein_coding | 3357 | chr1 | TogoVar | |||||||
USF1_chr1_161034251_161050977 | 161035893 | A | ACAGAAGA others(425): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0054 | 1 | 396 | 0.0025 | 432 | c.*40 others(443): Show |
USF1 | ENSG00000158773.14 | transcript | ENST00000368021.7 | protein_coding | 3357 | chr1 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133828339 | G | GGGCTGAC others(425): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0083 | 1 | 200 | 0.0050 | 432 | c.449 others(449): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | |||||||
VAV2_chr9_133756894_133997324 | 133828464 | G | GCTACCGC others(425): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0023 | a0001c0023t0024 | a0001c0023t0024g0023 | 1 | 200 | 0.0050 | 432 | c.449 others(449): Show |
VAV2 | ENSG00000160293.17 | transcript | ENST00000371850.8 | protein_coding | 4/29 | chr9 | TogoVar | |||||||
WDR70_chr5_37374318_37758435 | 37557901 | A | ATACTCTT others(425): Show |
intron_variant | MODIFIER | HG02055.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0238 a0001c0001t0001g0240 |
2 | 242 | 0.0083 | 432 | c.917 others(451): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
WDR70_chr5_37374318_37758435 | 37557901 | A | ATACTCTT others(425): Show |
intron_variant | MODIFIER | HG02572.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 a0001c0001t0001g0226 |
2 | 242 | 0.0083 | 432 | c.917 others(451): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
WDR70_chr5_37374318_37758435 | 37557901 | A | ATACTCTT others(425): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02074.hp1 HG02559.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 others(5): Show |
8 | 242 | 0.0331 | 432 | c.917 others(451): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
WDR70_chr5_37374318_37758435 | 37557901 | A | ATACTCTT others(425): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02683.hp1 NA18960.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0116 a0001c0001t0001g0124 others(2): Show |
5 | 242 | 0.0207 | 432 | c.917 others(451): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
WDR70_chr5_37374318_37758435 | 37557901 | A | ATACTCTT others(425): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0118 |
2 | 242 | 0.0083 | 432 | c.917 others(451): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
WDR70_chr5_37374318_37758435 | 37557901 | A | ATACTCTT others(425): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 242 | 0.0041 | 432 | c.917 others(451): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62370800 | C | CATCATAT others(425): Show |
upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 350 | 0.0029 | 432 | c.-36 others(443): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3568 | chr10 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1119319 | C | CCCAGCGT others(426): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0237 | 1 | 337 | 0.0030 | 433 | c.246 others(450): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1119319 | C | CCCAGCGT others(426): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01243.hp2 HG02486.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(16): Show | a0001c0001t0001g0133 a0001c0001t0003g0121 a0001c0001t0007g0280 others(18): Show |
21 | 337 | 0.0623 | 433 | c.246 others(450): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1119319 | C | CCCAGCGT others(426): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0004 | a0002c0004t0009 | a0002c0004t0009g0032 | 1 | 337 | 0.0030 | 433 | c.246 others(450): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(426): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01106.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 others(3): Show |
6 | 337 | 0.0178 | 433 | c.61+ others(448): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1173281 | C | CCCACCCA others(426): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0087 a0001c0001t0006g0086 a0001c0001t0006g0096 |
3 | 337 | 0.0089 | 433 | c.61+ others(448): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(426): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0003 | a0003c0015 | a0003c0015t0003 | a0003c0015t0003g0044 | 1 | 228 | 0.0044 | 433 | c.259 others(454): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(426): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0001 | a0002c0001t0073 | a0002c0001t0073g0227 | 1 | 228 | 0.0044 | 433 | c.259 others(454): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(426): Show |
intron_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0007 | a0001c0007t0018 | a0001c0007t0018g0045 | 1 | 228 | 0.0044 | 433 | c.259 others(454): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADAP1_chr7_892900_959680 | 906689 | G | GAAAGGAG others(426): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0012 | 1 | 14 | 0.0714 | 433 | c.389 others(450): Show |
ADAP1 | ENSG00000105963.15 | transcript | ENST00000265846.10 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(426): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0000 | 2 | 416 | 0.0048 | 433 | c.*10 others(446): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132729596 | A | AAGGGGAG others(426): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0091 |
3 | 350 | 0.0086 | 433 | c.248 others(448): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132729596 | A | AAGGGGAG others(426): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0161 | 1 | 350 | 0.0029 | 433 | c.248 others(448): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132729596 | A | AAGGGGAG others(426): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(70): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0017a0003c0003others(2): Show | a0001c0001t0001a0001c0017t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0010 others(65): Show |
73 | 350 | 0.2086 | 433 | c.248 others(448): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
ANKLE2_chr12_132720503_132766832 | 132729605 | G | GGGAGGTG others(426): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 a0001c0001t0001g0207 |
2 | 350 | 0.0057 | 433 | c.248 others(448): Show |
ANKLE2 | ENSG00000176915.15 | transcript | ENST00000357997.10 | protein_coding | 11/12 | chr12 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2129048 | C | CGTGGAGC others(426): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 406 | 0.0025 | 433 | c.806 others(446): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 8/31 | chr19 | TogoVar | |||||||
ATF1_chr12_50759101_50826162 | 50823525 | A | ATATTATA others(426): Show |
downstream_gene_variant | MODIFIER | HG02922.hp2 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0325 a0001c0002t0001g0328 |
2 | 382 | 0.0052 | 433 | c.*37 others(444): Show |
ATF1 | ENSG00000123268.9 | transcript | ENST00000262053.8 | protein_coding | 2364 | chr12 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1276785 | T | TCAAAAAA others(426): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02257.hp1 others(15): Show |
a0001a0006 | a0001c0002a0006c0012 | a0001c0002t0001a0001c0002t0004a0006c0012t0001 | a0001c0002t0001g0000 a0001c0002t0004g0000 a0006c0012t0001g0000 |
18 | 442 | 0.0407 | 433 | c.*55 others(444): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4971 | chr17 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1276785 | T | TCAAAAAA others(426): Show |
downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 442 | 0.0023 | 433 | c.*55 others(444): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4971 | chr17 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1276785 | T | TCAAAAAA others(426): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 442 | 0.0023 | 433 | c.*55 others(444): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4971 | chr17 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1276785 | T | TCAAAAAA others(426): Show |
downstream_gene_variant | MODIFIER | HG03669.hp1 HG04199.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0000 | 2 | 442 | 0.0045 | 433 | c.*55 others(444): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4971 | chr17 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1276785 | T | TCAAAAAA others(426): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01517.hp1 NA19000.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0000 | 4 | 442 | 0.0091 | 433 | c.*55 others(444): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4971 | chr17 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1276785 | T | TCAAAAAA others(426): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 442 | 0.0045 | 433 | c.*55 others(444): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4971 | chr17 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1276785 | T | TCAAAAAA others(426): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 442 | 0.0023 | 433 | c.*55 others(444): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4971 | chr17 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1276785 | T | TCAAAAAA others(426): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(217): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0001g0000 others(5): Show |
220 | 442 | 0.4977 | 433 | c.*55 others(444): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4971 | chr17 | TogoVar | |||||||
BHLHA9_chr17_1265444_1276815 | 1276785 | T | TCAAAAAA others(426): Show |
downstream_gene_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 442 | 0.0023 | 433 | c.*55 others(444): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4971 | chr17 | TogoVar | |||||||
C1QTNF12_chr1_1237453_1251722 | 1245158 | C | CCTCTGCC others(426): Show |
intron_variant | MODIFIER | HG01517.hp2 HG02109.hp1 HG02300.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0019 |
8 | 328 | 0.0244 | 433 | c.178 others(448): Show |
C1QTNF12 | ENSG00000184163.3 | transcript | ENST00000330388.2 | protein_coding | 1/7 | chr1 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185836 | G | GGGGTGTG others(426): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 1 | 338 | 0.0030 | 433 | c.300 others(450): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CACNG8_chr19_53957937_53995215 | 53990900 | C | CCCCCAGC others(426): Show |
downstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 394 | 0.0025 | 433 | c.*80 others(444): Show |
CACNG8 | ENSG00000142408.7 | transcript | ENST00000270458.4 | protein_coding | 686 | chr19 | TogoVar | |||||||
CALCOCO2_chr17_48826035_48870245 | 48858046 | A | ATAGAATA others(426): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0285 | 1 | 328 | 0.0031 | 433 | c.100 others(452): Show |
CALCOCO2 | ENSG00000136436.15 | transcript | ENST00000258947.8 | protein_coding | 10/12 | chr17 | TogoVar |