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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF804B_chr7_88754700_89343528 | 89156036 | CTTTCTTT others(49): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01070.hp2 HG02132.hp1 others(18): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0002c0002others(8): Show | a0001c0001t0002a0001c0001t0005a0001c0004t0002others(9): Show | a0001c0001t0002g0008 a0001c0001t0002g0101 a0001c0001t0005g0015 others(18): Show |
21 | 166 | 0.1265 | -56 | c.109 others(75): Show |
ZNF804B | ENSG00000182348.7 | transcript | ENST00000333190.5 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
ZP4_chr1_237877404_237895922 | 237883997 | CACACACA others(49): Show |
C | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046 | 1 | 448 | 0.0022 | -56 | c.139 others(73): Show |
ZP4 | ENSG00000116996.10 | transcript | ENST00000366570.5 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
ZYG11B_chr1_52721453_52832336 | 52803101 | TATATATA others(49): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG01069.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0022others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0071 a0001c0001t0001g0074 others(16): Show |
19 | 352 | 0.0540 | -56 | c.169 others(74): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZYG11B_chr1_52721453_52832336 | 52803113 | TATATACA others(49): Show |
T | intron_variant | MODIFIER | HG01255.hp2 HG01257.hp1 HG03688.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011a0001c0001t0019others(2): Show | a0001c0001t0001g0046 a0001c0001t0001g0113 a0001c0001t0001g0146 others(6): Show |
9 | 352 | 0.0256 | -56 | c.169 others(74): Show |
ZYG11B | ENSG00000162378.13 | transcript | ENST00000294353.7 | protein_coding | 10/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42967234 | ATATTATA others(48): Show |
A | upstream_gene_variant | MODIFIER | HG03834.hp1 NA19010.hp1 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 a0001c0001t0001g0076 a0001c0001t0001g0079 |
3 | 324 | 0.0093 | -55 | c.-28 others(66): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2781 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81140959 | GTGAGCCG others(48): Show |
G | intron_variant | MODIFIER | HG03486.hp2 | a0007 | a0007c0008 | a0007c0008t0015 | a0007c0008t0015g0201 | 1 | 368 | 0.0027 | -55 | c.56- others(70): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104862651 | GGCCGGGC others(48): Show |
G | intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0075 | a0002c0075t0027 | a0002c0075t0027g0290 | 1 | 318 | 0.0031 | -55 | c.422 others(70): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 5/49 | chr9 | TogoVar | |||||||
ABCB7_chrX_75046048_75161283 | 75158121 | TGTTACTC others(48): Show |
T | upstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 232 | 0.0043 | -55 | c.-19 others(66): Show |
ABCB7 | ENSG00000131269.19 | transcript | ENST00000373394.8 | protein_coding | 1839 | chrX | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25382296 | CCTGTTCA others(48): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0313 | 1 | 316 | 0.0032 | -55 | c.191 others(72): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ACSF3_chr16_89088852_89161233 | 89137343 | TCGGGAGG others(48): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp1 HG01106.hp1 others(14): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0009 | a0001c0001t0001a0001c0001t0012a0001c0001t0060others(2): Show | a0001c0001t0001g0011 a0001c0001t0001g0084 a0001c0001t0001g0264 others(14): Show |
17 | 368 | 0.0462 | -55 | c.136 others(74): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSF3_chr16_89088852_89161233 | 89137531 | CGGGGAAA others(48): Show |
C | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0086 |
2 | 368 | 0.0054 | -55 | c.136 others(74): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACSF3_chr16_89088852_89161233 | 89137563 | TCGGGAGG others(48): Show |
T | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 368 | 0.0027 | -55 | c.136 others(74): Show |
ACSF3 | ENSG00000176715.17 | transcript | ENST00000614302.5 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ACTN4_chr19_38642649_38736589 | 38735792 | GGGGGCGG others(48): Show |
G | downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0068 | 1 | 314 | 0.0032 | -55 | c.*63 others(66): Show |
ACTN4 | ENSG00000130402.14 | transcript | ENST00000252699.7 | protein_coding | 4204 | chr19 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169763627 | GAGGTTTT others(48): Show |
G | downstream_gene_variant | MODIFIER | NA18960.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0031 | 1 | 418 | 0.0024 | -55 | c.*37 others(66): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 3293 | chr3 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67654344 | CCCTAGGG others(48): Show |
C | upstream_gene_variant | MODIFIER | HG02083.hp1 | a0004 | a0004c0011 | a0004c0011t0012 | a0004c0011t0012g0080 | 1 | 396 | 0.0025 | -55 | c.-39 others(66): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 3615 | chr11 | TogoVar | |||||||
ADAMTS2_chr5_179105853_179350461 | 179349950 | ATTGCCTT others(48): Show |
A | upstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0034 | a0001c0034t0002 | a0001c0034t0002g0134 | 1 | 276 | 0.0036 | -55 | c.-46 others(66): Show |
ADAMTS2 | ENSG00000087116.17 | transcript | ENST00000251582.12 | protein_coding | 4490 | chr5 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45073979 | GGGTGGCT others(48): Show |
G | upstream_gene_variant | MODIFIER | HG01167.hp2 HG02129.hp1 HG02257.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0039a0001c0002t0107others(1): Show | a0001c0002t0004g0153 a0001c0002t0039g0172 a0001c0002t0039g0173 others(2): Show |
5 | 350 | 0.0143 | -55 | c.-10 others(65): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 600 | chr21 | TogoVar | |||||||
ADARB1_chr21_45069580_45231560 | 45073982 | TGGCTCGG others(48): Show |
T | upstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp1 HG04184.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0027 | a0001c0001t0002g0024 a0001c0001t0002g0283 a0001c0002t0027g0006 |
4 | 350 | 0.0114 | -55 | c.-10 others(65): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 597 | chr21 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133135444 | GGGTCTGG others(48): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp1 HG01243.hp1 HG01433.hp2 others(5): Show |
a0001a0015 | a0001c0001a0001c0022a0015c0020 | a0001c0001t0017a0001c0001t0040a0001c0001t0045others(3): Show | a0001c0001t0017g0052 a0001c0001t0017g0130 a0001c0001t0017g0201 others(5): Show |
8 | 368 | 0.0217 | -55 | c.*59 others(66): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 3770 | chr10 | TogoVar | |||||||
ADGRD1_chr12_130948907_131146469 | 131019822 | GGAGATAT others(48): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(124): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0156 others(124): Show |
127 | 242 | 0.5248 | -55 | c.147 others(74): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AGA_chr4_177425774_177447437 | 177444928 | AAGGGCGT others(48): Show |
A | upstream_gene_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 442 | 0.0023 | -55 | c.-26 others(66): Show |
AGA | ENSG00000038002.9 | transcript | ENST00000264595.7 | protein_coding | 2492 | chr4 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240879920 | TTTGTTGC others(48): Show |
T | 3_prime_UTR_variant | MODIFIER | NA18987.hp1 | a0019 | a0019c0018 | a0019c0018t0020 | a0019c0018t0020g0007 | 1 | 444 | 0.0023 | -55 | c.*11 others(66): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 11/11 | 1131 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AKAP17A_chrX_1586604_1607520 | 1587658 | CTCCCCTC others(48): Show |
C | upstream_gene_variant | MODIFIER | HG01168.hp2 HG02630.hp1 HG03453.hp1 others(1): Show |
a0001a0002 | a0001c0004a0002c0002a0002c0003 | a0001c0004t0018a0002c0002t0002a0002c0002t0003others(1): Show | a0001c0004t0018g0015 a0002c0002t0002g0006 a0002c0002t0003g0063 others(1): Show |
4 | 151 | 0.0265 | -55 | c.-41 others(66): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3945 | chrX | TogoVar | |||||||
AKAP17A_chrX_1586604_1607520 | 1589085 | CTCCCCTC others(48): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00558.hp1 others(65): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0025a0002c0002others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(58): Show |
68 | 151 | 0.4503 | -55 | c.-27 others(66): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2518 | chrX | TogoVar | |||||||
ALK_chr2_29187774_29926586 | 29802369 | GAGGGGAG others(48): Show |
G | intron_variant | MODIFIER | HG01074.hp2 HG01106.hp1 HG01123.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0004a0001c0006a0001c0009others(12): Show | a0001c0004t0001a0001c0006t0001a0001c0009t0005others(12): Show | a0001c0004t0001g0021 a0001c0004t0001g0037 a0001c0006t0001g0026 others(16): Show |
19 | 80 | 0.2375 | -55 | c.668 others(74): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107910 | AAAGAAAG others(48): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG04204.hp2 NA18970.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0003g0375 a0001c0001t0004g0378 a0001c0001t0004g0400 others(3): Show |
6 | 422 | 0.0142 | -55 | c.168 others(72): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
AMZ1_chr7_2683202_2724683 | 2702229 | CTGCCCCA others(48): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 NA18957.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0005a0001c0022others(2): Show | a0001c0001t0001a0001c0005t0002a0001c0022t0035others(2): Show | a0001c0001t0001g0189 a0001c0005t0002g0354 a0001c0022t0035g0326 others(3): Show |
6 | 438 | 0.0137 | -55 | c.305 others(70): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ANKDD1A_chr15_64906902_64963691 | 64954494 | CTTCTTCT others(48): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01168.hp1 HG01169.hp1 others(4): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0003 | a0001c0002t0006a0001c0004t0003a0002c0003t0006 | a0001c0002t0006g0011 a0001c0002t0006g0012 a0001c0002t0006g0013 others(4): Show |
7 | 338 | 0.0207 | -55 | c.148 others(74): Show |
ANKDD1A | ENSG00000166839.18 | transcript | ENST00000319580.13 | protein_coding | 14/14 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ANO7_chr2_241183677_241230976 | 241218007 | CTGGGGGC others(48): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0009 | a0009c0017 | a0009c0017t0008 | a0009c0017t0008g0093 | 1 | 396 | 0.0025 | -55 | c.217 others(72): Show |
ANO7 | ENSG00000146205.15 | transcript | ENST00000674324.2 | protein_coding | 20/24 | chr2 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 436875 | GGGTGAGC others(48): Show |
G | intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 286 | 0.0035 | -55 | c.7-2 others(68): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 1/22 | chr11 | TogoVar | |||||||
ANTXR2_chr4_79896146_80078229 | 80015893 | AAGGAAAG others(48): Show |
A | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0210 | 1 | 268 | 0.0037 | -55 | c.945 others(72): Show |
ANTXR2 | ENSG00000163297.18 | transcript | ENST00000403729.7 | protein_coding | 11/16 | chr4 | TogoVar | |||||||
APBB2_chr4_40805027_41219542 | 40982194 | GGAAAGAA others(48): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp2 HG00735.hp2 others(24): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(12): Show | a0001c0002t0001g0060 a0001c0002t0001g0101 a0001c0002t0001g0109 others(24): Show |
27 | 192 | 0.1406 | -55 | c.835 others(74): Show |
APBB2 | ENSG00000163697.18 | transcript | ENST00000508593.6 | protein_coding | 6/17 | chr4 | TogoVar | |||||||
APOH_chr17_66207033_66234415 | 66224656 | GGGAAGGG others(48): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0335 | 1 | 386 | 0.0026 | -55 | c.339 others(70): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
APOH_chr17_66207033_66234415 | 66224661 | GGGAAGGG others(48): Show |
G | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0342 | 1 | 386 | 0.0026 | -55 | c.339 others(70): Show |
APOH | ENSG00000091583.11 | transcript | ENST00000205948.11 | protein_coding | 3/7 | chr17 | TogoVar | |||||||
AQP1_chr7_30906853_30930516 | 30913323 | AGCAGGGG others(48): Show |
A | intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 432 | 0.0023 | -55 | c.384 others(72): Show |
AQP1 | ENSG00000240583.14 | transcript | ENST00000311813.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ARHGAP10_chr4_147727088_148077776 | 147784775 | TAATATAT others(48): Show |
T | intron_variant | MODIFIER | HG00558.hp2 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 a0001c0001t0001g0077 |
2 | 106 | 0.0189 | -55 | c.155 others(74): Show |
ARHGAP10 | ENSG00000071205.12 | transcript | ENST00000336498.8 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ARHGAP20_chr11_110572043_110717437 | 110706593 | ACCTACTC others(48): Show |
A | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0209 | 1 | 226 | 0.0044 | -55 | c.105 others(72): Show |
ARHGAP20 | ENSG00000137727.13 | transcript | ENST00000683387.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
ARHGEF28_chr5_73621196_73946990 | 73737439 | CTTCTTTT others(48): Show |
C | intron_variant | MODIFIER | HG02723.hp2 NA21309.hp2 |
a0003a0028 | a0003c0007a0028c0076 | a0003c0007t0001a0028c0076t0001 | a0003c0007t0001g0045 a0028c0076t0001g0125 |
2 | 188 | 0.0106 | -55 | c.34- others(72): Show |
ARHGEF28 | ENSG00000214944.10 | transcript | ENST00000513042.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARID3A_chr19_921035_980939 | 979841 | GGGAGGGA others(48): Show |
G | downstream_gene_variant | MODIFIER | HG01255.hp2 HG03098.hp1 HG03927.hp1 |
a0001a0002 | a0001c0005a0002c0010 | a0001c0005t0119a0001c0005t0234a0002c0010t0191 | a0001c0005t0119g0090 a0001c0005t0234g0078 a0002c0010t0191g0017 |
3 | 364 | 0.0082 | -55 | c.*77 others(66): Show |
ARID3A | ENSG00000116017.11 | transcript | ENST00000263620.8 | protein_coding | 3903 | chr19 | TogoVar | |||||||
ARID3A_chr19_921035_980939 | 980023 | CCACCTCC others(48): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG02055.hp1 others(22): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0160a0001c0002t0035a0001c0002t0120others(21): Show | a0001c0001t0160g0200 a0001c0002t0035g0041 a0001c0002t0035g0109 others(22): Show |
25 | 364 | 0.0687 | -55 | c.*79 others(66): Show |
ARID3A | ENSG00000116017.11 | transcript | ENST00000263620.8 | protein_coding | 4085 | chr19 | TogoVar | |||||||
ASB6_chr9_129629605_129647151 | 129637966 | AGAAGTGG others(48): Show |
A | frameshift_variant | HIGH | HG02922.hp1 | a0005 | a0005c0010 | a0005c0010t0003 | a0005c0010t0003g0036 | 1 | 422 | 0.0024 | -55 | c.103 others(64): Show |
p.Phe others(5): Show |
ASB6 | ENSG00000148331.12 | transcript | ENST00000277458.5 | protein_coding | 6/6 | 1241/4603 | 1035/1266 | 345/421 | chr9 | TogoVar | |||
ASMTL_chrX_1398139_1457909 | 1402640 | CAAATGCA others(48): Show |
C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(11): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0006a0004c0007others(2): Show | a0001c0001t0001a0003c0006t0001a0004c0007t0001others(2): Show | a0001c0001t0001g0076 a0003c0006t0001g0010 a0003c0006t0001g0035 others(11): Show |
14 | 185 | 0.0757 | -55 | c.*57 others(64): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 498 | chrX | TogoVar | |||||||
ASMTL_chrX_1398139_1457909 | 1406205 | GAGATGGA others(48): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0018 | a0018c0035 | a0018c0035t0001 | a0018c0035t0001g0147 | 1 | 185 | 0.0054 | -55 | c.164 others(74): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
ATG4B_chr2_241632693_241678857 | 241669018 | CACACGGG others(48): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(92): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0003a0001c0002t0005others(12): Show | a0001c0001t0001g0003 a0001c0002t0003g0008 a0001c0002t0003g0018 others(80): Show |
95 | 410 | 0.2317 | -55 | c.957 others(70): Show |
ATG4B | ENSG00000168397.17 | transcript | ENST00000404914.8 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79382755 | TCCAGGAT others(48): Show |
T | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG01891.hp1 others(6): Show |
a0001a0003a0013 | a0001c0004a0001c0010a0001c0017others(3): Show | a0001c0004t0003a0001c0010t0004a0001c0017t0004others(3): Show | a0001c0004t0003g0101 a0001c0004t0003g0102 a0001c0004t0003g0103 others(6): Show |
9 | 298 | 0.0302 | -55 | c.*53 others(66): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 4473 | chr18 | TogoVar | |||||||
ATPAF1_chr1_46627737_46673364 | 46652375 | CACTTATT others(48): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02818.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0014 | a0001c0001t0009g0034 a0001c0001t0009g0146 a0001c0001t0009g0147 others(2): Show |
6 | 412 | 0.0146 | -55 | c.588 others(70): Show |
ATPAF1 | ENSG00000123472.13 | transcript | ENST00000574428.6 | protein_coding | 6/8 | chr1 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97678879 | GGGTGTGT others(48): Show |
G | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0193 | 1 | 446 | 0.0022 | -55 | c.287 others(70): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
AVPI1_chr10_97672424_97692241 | 97678945 | GTGTGTGT others(48): Show |
G | intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0132 | 1 | 446 | 0.0022 | -55 | c.287 others(70): Show |
AVPI1 | ENSG00000119986.7 | transcript | ENST00000370626.4 | protein_coding | 2/2 | chr10 | TogoVar | |||||||
B3GNTL1_chr17_82937149_83056770 | 83032455 | ACCAGGTC others(48): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp1 HG00609.hp1 others(33): Show |
a0001a0002 | a0001c0004a0001c0006a0001c0016others(2): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0010others(13): Show | a0001c0004t0001g0002 a0001c0004t0001g0021 a0001c0004t0001g0025 others(32): Show |
36 | 266 | 0.1353 | -55 | c.297 others(72): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159325041 | TATTATAT others(48): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG01515.hp1 HG02004.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0008t0002others(1): Show | a0001c0001t0001g0021 a0001c0001t0001g0041 a0001c0001t0001g0084 others(3): Show |
6 | 216 | 0.0278 | -55 | c.621 others(71): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 35/36 | chr2 | TogoVar |