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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADGRG7_chr3_100604601_100700479 | 100605853 | TTCCTTCC others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0011 | 1 | 340 | 0.0029 | -40 | c.-40 others(51): Show |
ADGRG7 | ENSG00000144820.8 | transcript | ENST00000273352.8 | protein_coding | 3747 | chr3 | TogoVar | ||||||
ADGRG7_chr3_100604601_100700479 | 100605884 | CCTTCCTT others(33): Show |
C | upstream_gene_variant | MODIFIER | HG01943.hp2 HG02698.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0227a0003c0003t0001g0251 | 2 | 340 | 0.0059 | -40 | c.-39 others(51): Show |
ADGRG7 | ENSG00000144820.8 | transcript | ENST00000273352.8 | protein_coding | 3716 | chr3 | TogoVar | ||||||
ADGRL3_chr4_61195326_62083335 | 61432573 | CCTTTCTT others(33): Show |
C | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0031 | 1 | 58 | 0.0172 | -40 | c.-17 others(61): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADI1_chr2_3492366_3524531 | 3503308 | GACACGCA others(33): Show |
G | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117 | 1 | 392 | 0.0026 | -40 | c.241 others(57): Show |
ADI1 | ENSG00000182551.14 | transcript | ENST00000327435.11 | protein_coding | 2/3 | chr2 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74300271 | CTTCCTTC others(33): Show |
C | intron_variant | MODIFIER | HG01934.hp2 HG02004.hp1 HG02273.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0002 | a0001c0001t0001g0008a0001c0001t0001g0022a0001c0001t0001g0023others(5): Show | 8 | 200 | 0.0400 | -40 | c.195 others(59): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AFAP1L2_chr10_114289824_114409502 | 114360485 | CTAGATAG others(33): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0238 | 1 | 262 | 0.0038 | -40 | c.17- others(57): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 1/18 | chr10 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7756520 | TGACCCGA others(33): Show |
T | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00609.hp2 HG00639.hp1 others(37): Show |
a0001a0002a0004 | a0001c0002a0001c0007a0001c0017others(3): Show | a0001c0002t0003a0001c0002t0022a0001c0002t0028others(8): Show | a0001c0002t0003g0029a0001c0002t0003g0044a0001c0002t0003g0098others(37): Show | 40 | 318 | 0.1258 | -40 | c.*72 others(51): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 2193 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7840261 | GATGTGTG others(33): Show |
G | intron_variant | MODIFIER | HG02145.hp2 NA20300.hp1 |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0271a0001c0004t0007g0309 | 2 | 318 | 0.0063 | -40 | c.547 others(57): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 5/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7840265 | TGTGTGTG others(33): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp1 HG01261.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0002t0069a0001c0004t0006others(6): Show | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0002t0069g0265others(13): Show | 16 | 318 | 0.0503 | -40 | c.547 others(57): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 5/17 | chr4 | TogoVar | ||||||
AFF1_chr4_86930011_87146039 | 86995957 | GGCCGCCC others(33): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp1 HG01069.hp1 others(14): Show |
a0001a0015 | a0001c0001a0001c0010a0015c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0077a0001c0001t0002g0072a0001c0001t0006g0073others(14): Show | 17 | 294 | 0.0578 | -40 | c.38+ others(57): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148773681 | GGAAGGAA others(33): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0076 | a0001c0001t0076g0153 | 1 | 169 | 0.0059 | -40 | c.104 others(61): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148897233 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | NA19066.hp1 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0019a0001c0001t0002g0020 | 2 | 169 | 0.0118 | -40 | c.136 others(59): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFF3_chr2_99540419_100147590 | 99626446 | CCTTCCCC others(33): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00639.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0020a0001c0001t0002g0036a0001c0001t0004g0041others(18): Show | 21 | 100 | 0.2100 | -40 | c.118 others(61): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 13/24 | chr2 | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 100037540 | ATATTTAT others(33): Show |
A | intron_variant | MODIFIER | HG02976.hp2 NA20300.hp2 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0006 | a0001c0001t0001g0023a0003c0006t0006g0052 | 2 | 100 | 0.0200 | -40 | c.54- others(57): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 4/24 | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235525294 | GATACATA others(33): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01928.hp2 HG02080.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(18): Show | a0001c0001t0005g0012a0001c0001t0007g0008a0001c0001t0008g0069others(19): Show | 22 | 98 | 0.2245 | -40 | c.163 others(59): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGBL1_chr15_86074871_86921156 | 86636720 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 | 1 | 132 | 0.0076 | -40 | c.299 others(61): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGBL1_chr15_86074871_86921156 | 86636722 | TATATATA others(33): Show |
T | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0094 | 1 | 132 | 0.0076 | -40 | c.299 others(61): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGMO_chr7_15195317_15567015 | 15198234 | AGAGAGAG others(33): Show |
A | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120a0001c0001t0001g0124 | 2 | 236 | 0.0085 | -40 | c.*30 others(51): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 2082 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15354367 | TAGACGTG others(33): Show |
T | intron_variant | MODIFIER | NA19084.hp1 | a0009 | a0009c0013 | a0009c0013t0006 | a0009c0013t0006g0229 | 1 | 236 | 0.0042 | -40 | c.126 others(61): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15354464 | GTGTGTAT others(33): Show |
G | intron_variant | MODIFIER | HG02809.hp2 HG03017.hp2 |
a0001a0010 | a0001c0001a0010c0021 | a0001c0001t0003a0010c0021t0001 | a0001c0001t0003g0220a0010c0021t0001g0042 | 2 | 236 | 0.0085 | -40 | c.126 others(61): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15354466 | GTGTATAC others(33): Show |
G | intron_variant | MODIFIER | HG02257.hp2 NA19043.hp2 |
a0002 | a0002c0002a0002c0004 | a0002c0002t0007a0002c0004t0007 | a0002c0002t0007g0217a0002c0004t0007g0008 | 2 | 236 | 0.0085 | -40 | c.126 others(61): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15529638 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 236 | 0.0042 | -40 | c.409 others(59): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGR2_chr7_16786811_16809999 | 16790458 | GCGCTCCT others(33): Show |
G | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036a0001c0001t0001g0056a0001c0001t0001g0181others(1): Show | 6 | 460 | 0.0130 | -40 | c.*24 others(51): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 1352 | chr7 | TogoVar | ||||||
AGR2_chr7_16786811_16809999 | 16790476 | GTGGGATG others(33): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(313): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0020others(155): Show | 316 | 460 | 0.6870 | -40 | c.*23 others(51): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 1334 | chr7 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1030406 | CTGTGAGA others(33): Show |
C | intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 210 | 0.0048 | -40 | c.464 others(57): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AHRR_chr5_316714_443285 | 345086 | GTGTGTGT others(33): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0004 | a0004c0003 | a0004c0003t0024 | a0004c0003t0024g0029 | 1 | 268 | 0.0037 | -40 | c.62+ others(55): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 397354 | GTTAGCCC others(33): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG00741.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0029a0001c0001t0056a0002c0002t0006others(5): Show | a0001c0001t0029g0012a0001c0001t0056g0177a0002c0002t0006g0008others(13): Show | 18 | 268 | 0.0672 | -40 | c.352 others(59): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 417188 | TGTCTAGA others(33): Show |
T | intron_variant | MODIFIER | NA18967.hp2 | a0011 | a0011c0021 | a0011c0021t0019 | a0011c0021t0019g0111 | 1 | 268 | 0.0037 | -40 | c.441 others(57): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 417201 | TGGCTTGG others(33): Show |
T | intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0203 | 1 | 268 | 0.0037 | -40 | c.441 others(57): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 435190 | AGTCGGGT others(33): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02145.hp1 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0003others(1): Show | a0001c0001t0009a0001c0001t0017a0001c0001t0018others(6): Show | a0001c0001t0009g0030a0001c0001t0017g0034a0001c0001t0017g0264others(12): Show | 15 | 268 | 0.0560 | -40 | c.*40 others(49): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 11/11 | 406 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
AK5_chr1_77277019_77564966 | 77475406 | TGTATATA others(33): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0085 | 1 | 284 | 0.0035 | -40 | c.106 others(59): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77475465 | TTATATAT others(33): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02257.hp2 HG02615.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0008a0001c0001t0001g0064a0002c0002t0002g0143 | 3 | 284 | 0.0106 | -40 | c.106 others(59): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AKAP17A_chrX_1586604_1607520 | 1588924 | TTCCCTTC others(33): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0054 | 1 | 151 | 0.0066 | -40 | c.-28 others(51): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2679 | chrX | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1589139 | CTTCCCCT others(33): Show |
C | upstream_gene_variant | MODIFIER | HG01257.hp2 HG02015.hp1 HG03491.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0093a0001c0001t0001g0118 | 3 | 151 | 0.0199 | -40 | c.-26 others(51): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2464 | chrX | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1589159 | CTTCCCCT others(33): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp1 HG03195.hp1 |
a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0070a0002c0003t0004g0071 | 2 | 151 | 0.0133 | -40 | c.-26 others(51): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2444 | chrX | TogoVar | ||||||
AKT1_chr14_104764349_104800748 | 104776068 | CAGCAGGA others(33): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG02055.hp1 HG02109.hp2 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0013a0001c0003t0003g0015a0001c0003t0003g0036others(5): Show | 13 | 386 | 0.0337 | -40 | c.288 others(55): Show |
AKT1 | ENSG00000142208.18 | transcript | ENST00000649815.2 | protein_coding | 5/14 | chr14 | TogoVar | ||||||
ALDH3B2_chr11_67657155_67679623 | 67669093 | GTCTTTGT others(33): Show |
G | intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 390 | 0.0026 | -40 | c.-24 others(59): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ALG6_chr1_63362627_63443553 | 63400243 | ACGTATAT others(33): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00733.hp1 others(80): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0055a0001c0001t0001g0297a0001c0001t0002g0003others(79): Show | 83 | 388 | 0.2139 | -40 | c.168 others(57): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | chr1 | TogoVar | ||||||
ALKBH6_chr19_36004120_36019213 | 36017675 | TGCGAAGA others(33): Show |
T | upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 392 | 0.0026 | -40 | c.-35 others(51): Show |
ALKBH6 | ENSG00000239382.11 | transcript | ENST00000378875.8 | protein_coding | 3463 | chr19 | TogoVar | ||||||
ALOX12B_chr17_8067636_8092716 | 8087219 | CACACACA others(33): Show |
C | intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 462 | 0.0022 | -40 | c.147 others(53): Show |
ALOX12B | ENSG00000179477.11 | transcript | ENST00000647874.1 | protein_coding | 1/14 | chr17 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45391853 | ATCTGAGA others(33): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00642.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0002a0001c0008t0002 | a0001c0001t0001g0083a0001c0001t0001g0133a0001c0001t0001g0181others(16): Show | 20 | 345 | 0.0580 | -40 | c.350 others(57): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOX5_chr10_45369216_45451117 | 45391912 | CCTCCGCC others(33): Show |
C | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0242 | 1 | 345 | 0.0029 | -40 | c.350 others(57): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ALOXE3_chr17_8090900_8123514 | 8107810 | CAAGAAAG others(33): Show |
C | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 422 | 0.0024 | -40 | c.168 others(57): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107954 | AAAGAAAG others(33): Show |
A | intron_variant | MODIFIER | HG06807.hp1 NA19062.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0414a0001c0001t0004g0399 | 2 | 422 | 0.0047 | -40 | c.168 others(57): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21554788 | CCTGTCTG others(33): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01175.hp1 HG02132.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0002g0222a0001c0001t0002g0257a0001c0001t0004g0070others(11): Show | 14 | 370 | 0.0378 | -40 | c.61+ others(53): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AMACR_chr5_33981165_34013050 | 33985965 | CGATCACA others(33): Show |
C | downstream_gene_variant | MODIFIER | HG01099.hp1 HG02451.hp2 HG02559.hp2 others(7): Show |
a0001a0005a0006others(3): Show | a0001c0001a0005c0005a0006c0006others(3): Show | a0001c0001t0001a0001c0001t0009a0005c0005t0001others(4): Show | a0001c0001t0001g0017a0001c0001t0001g0108a0001c0001t0009g0019others(5): Show | 10 | 438 | 0.0228 | -40 | c.*30 others(51): Show |
AMACR | ENSG00000242110.9 | transcript | ENST00000335606.11 | protein_coding | 199 | chr5 | TogoVar | ||||||
AMZ1_chr7_2683202_2724683 | 2701348 | TGGTAGGG others(33): Show |
T | intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 438 | 0.0023 | -40 | c.304 others(55): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ANAPC16_chr10_72211012_72240860 | 72218161 | AAAAAATA others(33): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02129.hp1 HG04199.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0065a0001c0001t0001g0227a0001c0001t0002g0117 | 3 | 352 | 0.0085 | -40 | c.-28 others(57): Show |
ANAPC16 | ENSG00000166295.9 | transcript | ENST00000299381.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ANGEL2_chr1_212987182_213020867 | 213017373 | AGCACTAT others(33): Show |
A | upstream_gene_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | -40 | c.-17 others(51): Show |
ANGEL2 | ENSG00000174606.14 | transcript | ENST00000366962.8 | protein_coding | 1507 | chr1 | TogoVar | ||||||
ANK1_chr8_41648225_41802622 | 41650988 | GGTGTGTG others(33): Show |
G | downstream_gene_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0081 | 1 | 278 | 0.0036 | -40 | c.*47 others(51): Show |
ANK1 | ENSG00000029534.22 | transcript | ENST00000289734.13 | protein_coding | 2236 | chr8 | TogoVar |