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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HSD3B2_chr1_119410150_119428034 | 119418614 | TCTTTTAT others(8): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(68): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0008t0002 | a0001c0001t0002g0002a0001c0001t0002g0009a0001c0001t0002g0022others(5): Show | 71 | 442 | 0.1606 | -15 | c.143 others(30): Show |
HSD3B2 | ENSG00000203859.10 | transcript | ENST00000369416.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HSD3B2_chr1_119410150_119428034 | 119418617 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02717.hp2 others(2): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0004a0006c0006t0003 | a0001c0001t0004g0018a0006c0006t0003g0061 | 5 | 442 | 0.0113 | -15 | c.143 others(30): Show |
HSD3B2 | ENSG00000203859.10 | transcript | ENST00000369416.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HSDL1_chr16_84117141_84150177 | 84127209 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp2 NA18747.hp1 NA18998.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018a0001c0001t0039 | a0001c0001t0002g0241a0001c0001t0002g0275a0001c0001t0002g0317others(3): Show | 6 | 448 | 0.0134 | -15 | c.894 others(32): Show |
HSDL1 | ENSG00000103160.12 | transcript | ENST00000219439.9 | protein_coding | 5/5 | chr16 | TogoVar | ||||||
HSDL1_chr16_84117141_84150177 | 84135350 | TAAGGCTC others(8): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG01884.hp1 HG02922.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0030 | a0001c0001t0006g0152a0001c0001t0006g0153a0001c0001t0006g0154others(4): Show | 7 | 448 | 0.0156 | -15 | c.-7+ others(28): Show |
HSDL1 | ENSG00000103160.12 | transcript | ENST00000219439.9 | protein_coding | 2/5 | chr16 | TogoVar | ||||||
HSDL2_chr9_112375108_112477405 | 112410659 | GCTCATGC others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(150): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0013others(145): Show | 153 | 366 | 0.4180 | -15 | c.395 others(32): Show |
HSDL2 | ENSG00000119471.15 | transcript | ENST00000398805.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HSF5_chr17_58415167_58493408 | 58461213 | CACAACAA others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG02451.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0035a0001c0001t0001g0051a0001c0001t0001g0055others(5): Show | 8 | 332 | 0.0241 | -15 | c.154 others(34): Show |
HSF5 | ENSG00000176160.11 | transcript | ENST00000323777.8 | protein_coding | 4/5 | chr17 | TogoVar | ||||||
HSPA12A_chr10_116666192_116747566 | 116741196 | GGCACCTC others(8): Show |
G | intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 320 | 0.0031 | -15 | c.40+ others(30): Show |
HSPA12A | ENSG00000165868.16 | transcript | ENST00000369209.8 | protein_coding | 1/11 | chr10 | TogoVar | ||||||
HSPA12B_chr20_3727685_3758111 | 3748554 | GGCACAGC others(8): Show |
G | intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0050 | 1 | 424 | 0.0024 | -15 | c.850 others(30): Show |
HSPA12B | ENSG00000132622.11 | transcript | ENST00000254963.7 | protein_coding | 8/12 | chr20 | TogoVar | ||||||
HSPA1L_chr6_31804619_31820283 | 31807394 | GCCAACAT others(8): Show |
G | downstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0012 | 1 | 429 | 0.0023 | -15 | c.*26 others(26): Show |
HSPA1L | ENSG00000204390.10 | transcript | ENST00000375654.5 | protein_coding | 2224 | chr6 | TogoVar | ||||||
HSPA4_chr5_133047013_133111449 | 133106101 | AATTTTTT others(8): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02280.hp2 NA19076.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0002t0078 | a0001c0001t0033g0148a0001c0002t0078g0023 | 2 | 364 | 0.0055 | -15 | c.*16 others(26): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 19/19 | 1666 | chr5 | TogoVar | |||||
HSPA4_chr5_133047013_133111449 | 133106102 | ATTTTTTT others(8): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG01243.hp1 HG01884.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002a0001c0002t0068others(3): Show | a0001c0001t0002g0074a0001c0002t0002g0003a0001c0002t0002g0031others(8): Show | 11 | 364 | 0.0302 | -15 | c.*16 others(26): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 19/19 | 1690 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
HSPB1_chr7_76297673_76309292 | 76305813 | GAAGAAAA others(8): Show |
G | downstream_gene_variant | MODIFIER | HG02015.hp2 HG02273.hp2 NA18747.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001a0001c0002t0001g0001 | 9 | 418 | 0.0215 | -15 | c.*16 others(26): Show |
HSPB1 | ENSG00000106211.10 | transcript | ENST00000248553.7 | protein_coding | 1522 | chr7 | TogoVar | ||||||
HSPB2_chr11_111907734_111919093 | 111913201 | GCCTCCTC others(8): Show |
G | intron_variant | MODIFIER | HG02698.hp1 HG04204.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 2 | 394 | 0.0051 | -15 | c.95- others(28): Show |
HSPB2 | ENSG00000170276.6 | transcript | ENST00000304298.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HSPB8_chr12_119173931_119199746 | 119198239 | CCCAGCCG others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0005 | a0002c0005t0016 | a0002c0005t0016g0157 | 1 | 418 | 0.0024 | -15 | c.*43 others(26): Show |
HSPB8 | ENSG00000152137.8 | transcript | ENST00000281938.7 | protein_coding | 3494 | chr12 | TogoVar | ||||||
HSPBAP1_chr3_122734999_122798831 | 122739670 | GCCCTAGG others(8): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0054 | 1 | 350 | 0.0029 | -15 | c.*66 others(24): Show |
HSPBAP1 | ENSG00000169087.11 | transcript | ENST00000306103.3 | protein_coding | 328 | chr3 | TogoVar | ||||||
HSPD1_chr2_197481584_197504840 | 197485988 | TATATCAT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02886.hp2 HG03579.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002 | a0001c0001t0001g0038a0001c0003t0002g0044a0001c0003t0002g0090 | 4 | 396 | 0.0101 | -15 | c.*10 others(26): Show |
HSPD1 | ENSG00000144381.18 | transcript | ENST00000388968.8 | protein_coding | 595 | chr2 | TogoVar | ||||||
HSPE1_chr2_197495379_197508449 | 197505615 | TGTGTGTG others(8): Show |
T | downstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 406 | 0.0049 | -15 | c.*23 others(26): Show |
HSPE1 | ENSG00000115541.11 | transcript | ENST00000233893.10 | protein_coding | 2167 | chr2 | TogoVar | ||||||
HSPG2_chr1_21817244_21942310 | 21853751 | AAAAATAA others(8): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01243.hp2 HG01934.hp1 others(14): Show |
a0002a0009a0012others(8): Show | a0002c0080a0009c0014a0009c0121others(9): Show | a0002c0080t0002a0009c0014t0001a0009c0121t0001others(9): Show | a0002c0080t0002g0146a0009c0014t0001g0094a0009c0014t0001g0164others(14): Show | 17 | 310 | 0.0548 | -15 | c.643 others(32): Show |
HSPG2 | ENSG00000142798.20 | transcript | ENST00000374695.8 | protein_coding | 50/96 | chr1 | TogoVar | ||||||
HSPG2_chr1_21817244_21942310 | 21926761 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02895.hp1 others(2): Show |
a0004a0006a0010others(1): Show | a0004c0135a0006c0048a0006c0130others(2): Show | a0004c0135t0001a0006c0048t0002a0006c0130t0002others(2): Show | a0004c0135t0001g0102a0006c0048t0002g0103a0006c0130t0002g0104others(2): Show | 5 | 310 | 0.0161 | -15 | c.63+ others(32): Show |
HSPG2 | ENSG00000142798.20 | transcript | ENST00000374695.8 | protein_coding | 1/96 | chr1 | TogoVar | ||||||
HTD2_chr3_58301520_58325193 | 58306571 | CTCGGCCG others(8): Show |
C | 5_prime_UTR_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0002 | 1 | 368 | 0.0027 | -15 | c.-49 others(24): Show |
HTD2 | ENSG00000255154.9 | transcript | ENST00000461393.7 | protein_coding | 1/5 | 11028 | chr3 | TogoVar | |||||
HTR1E_chr6_86932528_87021679 | 86995673 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 300 | 0.0033 | -15 | c.-18 others(36): Show |
HTR1E | ENSG00000168830.8 | transcript | ENST00000305344.7 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
HTR1F_chr3_87787706_87998839 | 87794982 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(104): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0010others(104): Show | 107 | 250 | 0.4280 | -15 | c.-16 others(34): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR1F_chr3_87787706_87998839 | 87831330 | AATTATTA others(8): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01081.hp2 HG01243.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0044a0001c0001t0002g0032a0001c0001t0002g0035others(20): Show | 23 | 250 | 0.0920 | -15 | c.-43 others(32): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR1F_chr3_87787706_87998839 | 87979042 | GGGAGGGA others(8): Show |
G | intron_variant | MODIFIER | HG02717.hp2 HG02976.hp1 NA20129.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0101a0001c0001t0001g0103a0001c0001t0001g0105others(1): Show | 4 | 250 | 0.0160 | -15 | c.-42 others(34): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR1F_chr3_87787706_87998839 | 87987714 | ATGTATTT others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(113): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0008others(113): Show | 116 | 250 | 0.4640 | -15 | c.-42 others(32): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114786574 | GCTGCAAG others(8): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01261.hp1 HG02129.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0019 | a0001c0001t0001g0068a0001c0001t0001g0078a0001c0001t0001g0103others(7): Show | 10 | 176 | 0.0568 | -15 | c.349 others(34): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114806277 | TATACACA others(8): Show |
T | intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0057 | 1 | 176 | 0.0057 | -15 | c.350 others(34): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR2C_chrX_114579086_114915061 | 114806749 | TACACCAT others(8): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01106.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0084a0001c0001t0001g0085a0001c0001t0001g0143others(18): Show | 21 | 176 | 0.1193 | -15 | c.350 others(34): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
HTR3B_chr11_113899796_113954079 | 113926468 | TTTTCCTT others(8): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02970.hp2 others(2): Show |
a0001a0002 | a0001c0005a0002c0002 | a0001c0005t0021a0001c0005t0022a0002c0002t0056 | a0001c0005t0021g0068a0001c0005t0022g0384a0001c0005t0022g0385others(2): Show | 5 | 418 | 0.0120 | -15 | c.214 others(32): Show |
HTR3B | ENSG00000149305.8 | transcript | ENST00000260191.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HTR3B_chr11_113899796_113954079 | 113941785 | GTCCTATC others(8): Show |
G | intron_variant | MODIFIER | NA19009.hp1 | a0007 | a0007c0011 | a0007c0011t0001 | a0007c0011t0001g0235 | 1 | 418 | 0.0024 | -15 | c.697 others(32): Show |
HTR3B | ENSG00000149305.8 | transcript | ENST00000260191.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HTR3B_chr11_113899796_113954079 | 113950877 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0158 | 1 | 418 | 0.0024 | -15 | c.*47 others(26): Show |
HTR3B | ENSG00000149305.8 | transcript | ENST00000260191.8 | protein_coding | 1799 | chr11 | TogoVar | ||||||
HTR3C_chr3_184048047_184065673 | 184050881 | TCCCTTCC others(8): Show |
T | upstream_gene_variant | MODIFIER | HG03098.hp1 HG03579.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017a0002c0002t0001g0079 | 2 | 442 | 0.0045 | -15 | c.-21 others(26): Show |
HTR3C | ENSG00000178084.2 | transcript | ENST00000318351.2 | protein_coding | 2165 | chr3 | TogoVar | ||||||
HTR3C_chr3_184048047_184065673 | 184050886 | TCCCTCCC others(8): Show |
T | upstream_gene_variant | MODIFIER | HG01515.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0016 | 1 | 442 | 0.0023 | -15 | c.-21 others(26): Show |
HTR3C | ENSG00000178084.2 | transcript | ENST00000318351.2 | protein_coding | 2160 | chr3 | TogoVar | ||||||
HTR6_chr1_19659875_19685966 | 19662610 | TTTTTTTG others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(73): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0017others(1): Show | a0001c0001t0003a0001c0001t0008a0001c0001t0013others(8): Show | a0001c0001t0003g0004a0001c0001t0003g0005a0001c0001t0003g0016others(31): Show | 76 | 400 | 0.1900 | -15 | c.-31 others(26): Show |
HTR6 | ENSG00000158748.4 | transcript | ENST00000289753.2 | protein_coding | 2264 | chr1 | TogoVar | ||||||
HTR6_chr1_19659875_19685966 | 19663681 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp1 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0071 | 1 | 400 | 0.0025 | -15 | c.-20 others(26): Show |
HTR6 | ENSG00000158748.4 | transcript | ENST00000289753.2 | protein_coding | 1193 | chr1 | TogoVar | ||||||
HTR6_chr1_19659875_19685966 | 19683758 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 400 | 0.0025 | -15 | c.*43 others(26): Show |
HTR6 | ENSG00000158748.4 | transcript | ENST00000289753.2 | protein_coding | 2793 | chr1 | TogoVar | ||||||
HTR7_chr10_90735823_90863039 | 90807799 | GTTCTTTG others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0024 | a0001c0001t0001g0158a0001c0001t0001g0168a0001c0001t0003g0005others(49): Show | 53 | 404 | 0.1312 | -15 | c.539 others(34): Show |
HTR7 | ENSG00000148680.16 | transcript | ENST00000336152.8 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
HTR7_chr10_90735823_90863039 | 90831478 | CATAAAAG others(8): Show |
C | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0363 | 1 | 404 | 0.0025 | -15 | c.539 others(34): Show |
HTR7 | ENSG00000148680.16 | transcript | ENST00000336152.8 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
HTR7_chr10_90735823_90863039 | 90844725 | TCAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG03688.hp2 NA19055.hp2 NA19067.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0011 | a0001c0001t0005g0279a0001c0001t0005g0361a0001c0001t0005g0369others(1): Show | 4 | 404 | 0.0099 | -15 | c.539 others(34): Show |
HTR7 | ENSG00000148680.16 | transcript | ENST00000336152.8 | protein_coding | 1/3 | chr10 | TogoVar | ||||||
HTRA1_chr10_122456553_122519907 | 122496225 | GTTCTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG02109.hp2 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0095a0001c0001t0001g0181a0001c0001t0001g0201others(2): Show | 5 | 362 | 0.0138 | -15 | c.777 others(32): Show |
HTRA1 | ENSG00000166033.13 | transcript | ENST00000368984.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
HTRA3_chr4_8264754_8312098 | 8304643 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0348 | 1 | 388 | 0.0026 | -15 | c.119 others(32): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HTT_chr4_3069681_3248957 | 3074876 | CCAGCAGC others(8): Show |
C | disruptive_inframe_deletion | MODERATE | HG01891.hp1 | a0045 | a0045c0051 | a0045c0051t0001 | a0045c0051t0001g0048 | 1 | 294 | 0.0034 | -15 | c.96_ others(21): Show |
p.Gln others(11): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 1/67 | 241/13472 | 96/9429 | 32/3142 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
HTT_chr4_3069681_3248957 | 3198215 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01928.hp1 HG01943.hp2 |
a0003a0038 | a0003c0024a0038c0124 | a0003c0024t0019a0038c0124t0019 | a0003c0024t0019g0109a0038c0124t0019g0107 | 2 | 294 | 0.0068 | -15 | c.536 others(34): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 40/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
HUS1B_chr6_650939_662100 | 654803 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01123.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0000 | 1 | 432 | 0.0023 | -15 | c.*12 others(26): Show |
HUS1B | ENSG00000188996.5 | transcript | ENST00000380907.3 | protein_coding | 1135 | chr6 | TogoVar | ||||||
HUWE1_chrX_53527096_53691719 | 53645735 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0182 | 1 | 214 | 0.0047 | -15 | c.352 others(30): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | TogoVar | ||||||
HUWE1_chrX_53527096_53691719 | 53645737 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00597.hp2 NA18959.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007 | a0001c0002t0002g0168a0001c0002t0007g0209 | 2 | 214 | 0.0094 | -15 | c.352 others(30): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | TogoVar | ||||||
HVCN1_chr12_110643686_110694115 | 110683912 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0072 | 1 | 210 | 0.0048 | -15 | c.-19 others(30): Show |
HVCN1 | ENSG00000122986.14 | transcript | ENST00000242607.13 | protein_coding | 2/7 | chr12 | TogoVar | ||||||
HYCC1_chr7_22929211_23019130 | 22934206 | CTTTTTTT others(8): Show |
C | splice_region_variant | LOW | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0071 | a0001c0001t0071g0040 | 1 | 386 | 0.0026 | -15 | c.*11 others(28): Show |
HYCC1 | ENSG00000122591.13 | transcript | ENST00000432176.7 | protein_coding | 11/11 | chr7 | TogoVar | ||||||
HYDIN_chr16_70797084_71235722 | 70864330 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG03130.hp2 NA18942.hp2 NA18962.hp2 others(2): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0002c0005others(1): Show | a0001c0002t0002a0001c0002t0003a0002c0003t0003others(2): Show | a0001c0002t0002g0018a0001c0002t0003g0147a0002c0003t0003g0163others(2): Show | 5 | 174 | 0.0287 | -15 | c.114 others(36): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 67/85 | chr16 | TogoVar | ||||||
HYDIN_chr16_70797084_71235722 | 70884680 | TAAAACAA others(8): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG03225.hp2 |
a0003a0013 | a0003c0055a0013c0083 | a0003c0055t0032a0013c0083t0006 | a0003c0055t0032g0141a0013c0083t0006g0116 | 2 | 174 | 0.0115 | -15 | c.977 others(32): Show |
HYDIN | ENSG00000157423.18 | transcript | ENST00000393567.7 | protein_coding | 58/85 | chr16 | TogoVar |