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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HSD3B7_chr16_30980207_30994147 | 30988883 | CGACCCTC others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 | 1 | 314 | 0.0032 | -13 | c.*70 others(22): Show |
HSD3B7 | ENSG00000099377.14 | transcript | ENST00000297679.10 | protein_coding | 7/7 | 703 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HSDL2_chr9_112375108_112477405 | 112474067 | GCTATCTA others(6): Show |
G | downstream_gene_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 366 | 0.0027 | -13 | c.*35 others(24): Show |
HSDL2 | ENSG00000119471.15 | transcript | ENST00000398805.8 | protein_coding | 1663 | chr9 | TogoVar | |||||||
HSF1_chr8_144286604_144319720 | 144313650 | CCGCCTCC others(6): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01069.hp1 HG01099.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0126 |
4 | 330 | 0.0121 | -13 | c.124 others(28): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HSF1_chr8_144286604_144319720 | 144313665 | GCCGCCCC others(6): Show |
G | intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 330 | 0.0030 | -13 | c.124 others(28): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HSF1_chr8_144286604_144319720 | 144313697 | TCCCCGCG others(6): Show |
T | intron_variant | MODIFIER | HG03540.hp2 HG04184.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0084 |
2 | 330 | 0.0061 | -13 | c.124 others(29): Show |
HSF1 | ENSG00000185122.11 | transcript | ENST00000528838.6 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HSF5_chr17_58415167_58493408 | 58438816 | GCACTAAG others(6): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG03704.hp2 NA18906.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0305 others(3): Show |
6 | 332 | 0.0181 | -13 | c.172 others(34): Show |
HSF5 | ENSG00000176160.11 | transcript | ENST00000323777.8 | protein_coding | 5/5 | chr17 | TogoVar | |||||||
HSH2D_chr19_16138685_16163575 | 16141666 | GTAATCCC others(6): Show |
G | upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 394 | 0.0025 | -13 | c.-21 others(24): Show |
HSH2D | ENSG00000196684.12 | transcript | ENST00000613986.4 | protein_coding | 2018 | chr19 | TogoVar | |||||||
HSH2D_chr19_16138685_16163575 | 16144686 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01346.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 a0001c0001t0001g0241 |
2 | 394 | 0.0051 | -13 | c.-28 others(28): Show |
HSH2D | ENSG00000196684.12 | transcript | ENST00000613986.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HSH2D_chr19_16138685_16163575 | 16147486 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02896.hp2 HG03209.hp1 others(2): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0005c0007t0002 | a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0192 others(2): Show |
5 | 394 | 0.0127 | -13 | c.-27 others(30): Show |
HSH2D | ENSG00000196684.12 | transcript | ENST00000613986.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
HSP90AA1_chr14_102075742_102092044 | 102076410 | AATAAATA others(6): Show |
A | downstream_gene_variant | MODIFIER | HG03098.hp1 HG03579.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0019 | 2 | 398 | 0.0050 | -13 | c.*52 others(24): Show |
HSP90AA1 | ENSG00000080824.19 | transcript | ENST00000216281.13 | protein_coding | 4331 | chr14 | TogoVar | |||||||
HSPA4_chr5_133047013_133111449 | 133071446 | TCAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01516.hp1 | a0010 | a0010c0008 | a0010c0008t0073 | a0010c0008t0073g0016 | 1 | 364 | 0.0028 | -13 | c.429 others(28): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HSPA4_chr5_133047013_133111449 | 133092806 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0288 a0001c0001t0006g0319 |
2 | 364 | 0.0055 | -13 | c.165 others(28): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
HSPA4_chr5_133047013_133111449 | 133106101 | AATTTTTT others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG03486.hp1 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0053 | a0001c0001t0025g0004 a0001c0001t0025g0182 a0001c0001t0053g0135 |
3 | 364 | 0.0082 | -13 | c.*16 others(24): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 19/19 | 1666 | chr5 | TogoVar | ||||||
HSPA4_chr5_133047013_133111449 | 133106102 | ATTTTTTT others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0347 | 1 | 364 | 0.0028 | -13 | c.*16 others(24): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 19/19 | 1692 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HSPA4_chr5_133047013_133111449 | 133106128 | TTTTTTTT others(6): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG01081.hp1 HG01255.hp2 others(30): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0029a0001c0002t0081 | a0001c0002t0002g0002 a0001c0002t0002g0007 a0001c0002t0002g0008 others(29): Show |
33 | 364 | 0.0907 | -13 | c.*16 others(24): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 19/19 | 1693 | chr5 | TogoVar | ||||||
HSPA4_chr5_133047013_133111449 | 133109785 | AAAAAAAA others(6): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0278 others(58): Show |
61 | 364 | 0.1676 | -13 | c.*53 others(24): Show |
HSPA4 | ENSG00000170606.16 | transcript | ENST00000304858.7 | protein_coding | 3337 | chr5 | TogoVar | |||||||
HSPA5_chr9_125229853_125246343 | 125245951 | GTTTTTTT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 404 | 0.0025 | -13 | c.-48 others(24): Show |
HSPA5 | ENSG00000044574.9 | transcript | ENST00000324460.7 | protein_coding | 4609 | chr9 | TogoVar | |||||||
HSPB1_chr7_76297673_76309292 | 76305813 | GAAGAAAA others(6): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp2 HG03225.hp1 HG03471.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0002c0004t0001g0001 |
3 | 418 | 0.0072 | -13 | c.*16 others(24): Show |
HSPB1 | ENSG00000106211.10 | transcript | ENST00000248553.7 | protein_coding | 1522 | chr7 | TogoVar | |||||||
HSPB1_chr7_76297673_76309292 | 76305816 | GAAAAAAA others(6): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02717.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 3 | 418 | 0.0072 | -13 | c.*16 others(24): Show |
HSPB1 | ENSG00000106211.10 | transcript | ENST00000248553.7 | protein_coding | 1525 | chr7 | TogoVar | |||||||
HSPG2_chr1_21817244_21942310 | 21881311 | ACCCAGGG others(6): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(291): Show |
a0001a0002a0003others(72): Show | a0001c0001a0001c0002a0001c0003others(121): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(127): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 others(282): Show |
294 | 310 | 0.9484 | -13 | c.181 others(28): Show |
HSPG2 | ENSG00000142798.20 | transcript | ENST00000374695.8 | protein_coding | 14/96 | chr1 | TogoVar | |||||||
HSPH1_chr13_31129973_31166904 | 31162620 | CGCTTATA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 396 | 0.0025 | -13 | c.-10 others(24): Show |
HSPH1 | ENSG00000120694.20 | transcript | ENST00000320027.10 | protein_coding | 717 | chr13 | TogoVar | |||||||
HTD2_chr3_58301520_58325193 | 58303502 | TTTTTTGT others(6): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02647.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0026 a0001c0001t0010g0045 |
5 | 368 | 0.0136 | -13 | c.-35 others(24): Show |
HTD2 | ENSG00000255154.9 | transcript | ENST00000461393.7 | protein_coding | 3017 | chr3 | TogoVar | |||||||
HTR1D_chr1_23186895_23222502 | 23199415 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00621.hp2 others(116): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0002g0001 a0001c0001t0002g0008 a0001c0001t0002g0010 others(67): Show |
119 | 356 | 0.3343 | -13 | c.-78 others(32): Show |
HTR1D | ENSG00000179546.5 | transcript | ENST00000374619.2 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
HTR1F_chr3_87787706_87998839 | 87795171 | AAACAAGG others(6): Show |
A | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0234 | 1 | 250 | 0.0040 | -13 | c.-16 others(32): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
HTR1F_chr3_87787706_87998839 | 87987708 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0115 | 1 | 250 | 0.0040 | -13 | c.-42 others(30): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HTR1F_chr3_87787706_87998839 | 87987758 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 250 | 0.0040 | -13 | c.-42 others(30): Show |
HTR1F | ENSG00000179097.7 | transcript | ENST00000319595.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
HTR2B_chr2_231103230_231130042 | 231121396 | TAATAAAC others(6): Show |
T | intron_variant | MODIFIER | NA18988.hp2 NA18990.hp1 NA18997.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 a0001c0001t0001g0066 a0001c0001t0001g0067 |
4 | 416 | 0.0096 | -13 | c.352 others(30): Show |
HTR2B | ENSG00000135914.6 | transcript | ENST00000258400.4 | protein_coding | 2/3 | chr2 | TogoVar | |||||||
HTR2C_chrX_114579086_114915061 | 114806350 | CACACCAT others(6): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02559.hp1 HG02886.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0143 others(2): Show |
5 | 176 | 0.0284 | -13 | c.350 others(32): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114806672 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | NA18981.hp1 NA18983.hp1 NA18986.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0125 a0001c0001t0001g0126 others(2): Show |
5 | 176 | 0.0284 | -13 | c.350 others(32): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114806736 | CACACCAT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00609.hp1 others(123): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0059 others(123): Show |
126 | 176 | 0.7159 | -13 | c.350 others(32): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HTR2C_chrX_114579086_114915061 | 114806823 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | NA18940.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0110 |
2 | 176 | 0.0114 | -13 | c.350 others(32): Show |
HTR2C | ENSG00000147246.10 | transcript | ENST00000276198.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HTR3B_chr11_113899796_113954079 | 113948584 | TGGGGCGT others(6): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0059 | a0002c0002t0059g0262 | 1 | 418 | 0.0024 | -13 | c.*24 others(24): Show |
HTR3B | ENSG00000149305.8 | transcript | ENST00000260191.8 | protein_coding | 9/9 | 2448 | chr11 | TogoVar | ||||||
HTR3B_chr11_113899796_113954079 | 113950877 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0194 | 1 | 418 | 0.0024 | -13 | c.*47 others(24): Show |
HTR3B | ENSG00000149305.8 | transcript | ENST00000260191.8 | protein_coding | 1799 | chr11 | TogoVar | |||||||
HTR6_chr1_19659875_19685966 | 19667954 | ACATGGGG others(6): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01106.hp2 others(13): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0010a0001c0001t0016others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0047 a0001c0001t0010g0019 others(7): Show |
16 | 400 | 0.0400 | -13 | c.714 others(30): Show |
HTR6 | ENSG00000158748.4 | transcript | ENST00000289753.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
HTR6_chr1_19659875_19685966 | 19674135 | TGGGATTA others(6): Show |
T | intron_variant | MODIFIER | NA19054.hp2 NA19087.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 400 | 0.0050 | -13 | c.715 others(30): Show |
HTR6 | ENSG00000158748.4 | transcript | ENST00000289753.2 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
HTR6_chr1_19659875_19685966 | 19683758 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02559.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(2): Show | a0001c0001t0001g0001 a0001c0001t0012g0018 a0001c0001t0012g0116 others(4): Show |
13 | 400 | 0.0325 | -13 | c.*43 others(24): Show |
HTR6 | ENSG00000158748.4 | transcript | ENST00000289753.2 | protein_coding | 2793 | chr1 | TogoVar | |||||||
HTRA1_chr10_122456553_122519907 | 122496225 | GTTCTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG03453.hp1 HG03486.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0120 a0001c0001t0001g0169 others(7): Show |
10 | 362 | 0.0276 | -13 | c.777 others(30): Show |
HTRA1 | ENSG00000166033.13 | transcript | ENST00000368984.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HTRA1_chr10_122456553_122519907 | 122501961 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 a0001c0001t0001g0117 |
2 | 362 | 0.0055 | -13 | c.778 others(30): Show |
HTRA1 | ENSG00000166033.13 | transcript | ENST00000368984.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HTRA1_chr10_122456553_122519907 | 122511737 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(104): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0035 others(94): Show |
107 | 362 | 0.2956 | -13 | c.117 others(30): Show |
HTRA1 | ENSG00000166033.13 | transcript | ENST00000368984.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
HTRA3_chr4_8264754_8312098 | 8304643 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG03139.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 a0001c0001t0002g0165 a0001c0001t0002g0166 |
3 | 388 | 0.0077 | -13 | c.119 others(30): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTRA4_chr8_38969228_38993663 | 38981063 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02280.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0001a0001c0002t0014 | a0001c0001t0007g0149 a0001c0002t0001g0013 a0001c0002t0001g0028 others(4): Show |
15 | 428 | 0.0351 | -13 | c.100 others(30): Show |
HTRA4 | ENSG00000169495.5 | transcript | ENST00000302495.5 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
HTT_chr4_3069681_3248957 | 3198215 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02886.hp2 HG03225.hp1 |
a0035a0062 | a0035c0042a0062c0082 | a0035c0042t0005a0062c0082t0005 | a0035c0042t0005g0076 a0035c0042t0005g0085 a0062c0082t0005g0083 |
3 | 294 | 0.0102 | -13 | c.536 others(32): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 40/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HTT_chr4_3069681_3248957 | 3229427 | AACCACAC others(6): Show |
A | intron_variant | MODIFIER | HG01175.hp2 | a0006 | a0006c0015 | a0006c0015t0001 | a0006c0015t0001g0139 | 1 | 294 | 0.0034 | -13 | c.810 others(30): Show |
HTT | ENSG00000197386.14 | transcript | ENST00000355072.11 | protein_coding | 59/66 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
HUNK_chr21_31868020_32009064 | 31914408 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 328 | 0.0031 | -13 | c.262 others(32): Show |
HUNK | ENSG00000142149.9 | transcript | ENST00000270112.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
HUS1B_chr6_650939_662100 | 654803 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01069.hp2 NA19030.hp1 |
a0001a0017 | a0001c0001a0017c0007 | a0001c0001t0001a0017c0007t0001 | a0001c0001t0001g0000 a0017c0007t0001g0000 |
3 | 432 | 0.0069 | -13 | c.*12 others(24): Show |
HUS1B | ENSG00000188996.5 | transcript | ENST00000380907.3 | protein_coding | 1135 | chr6 | TogoVar | |||||||
HUS1B_chr6_650939_662100 | 658632 | ATATATAT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 HG03453.hp1 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0000 | 2 | 432 | 0.0046 | -13 | c.-17 others(24): Show |
HUS1B | ENSG00000188996.5 | transcript | ENST00000380907.3 | protein_coding | 1533 | chr6 | TogoVar | |||||||
HUS1_chr7_47958288_47984615 | 47970232 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0029 | 2 | 410 | 0.0049 | -13 | c.541 others(28): Show |
HUS1 | ENSG00000136273.13 | transcript | ENST00000258774.10 | protein_coding | 5/7 | chr7 | TogoVar | |||||||
HUWE1_chrX_53527096_53691719 | 53645733 | AAAAATAT others(6): Show |
A | intron_variant | MODIFIER | HG01928.hp1 HG03490.hp1 NA18957.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0015 | a0001c0002t0002a0001c0002t0005a0001c0003t0002others(1): Show | a0001c0002t0002g0135 a0001c0002t0005g0120 a0001c0003t0002g0143 others(3): Show |
6 | 214 | 0.0280 | -13 | c.352 others(28): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | TogoVar | |||||||
HUWE1_chrX_53527096_53691719 | 53645735 | AAATATAT others(6): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00438.hp2 others(32): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0003a0001c0006others(5): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(13): Show | a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0175 others(32): Show |
35 | 214 | 0.1636 | -13 | c.352 others(28): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | TogoVar | |||||||
HUWE1_chrX_53527096_53691719 | 53645737 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG01071.hp2 HG01261.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0007 | a0001c0002t0002g0127 a0001c0002t0002g0147 a0001c0002t0002g0159 others(6): Show |
9 | 214 | 0.0421 | -13 | c.352 others(28): Show |
HUWE1 | ENSG00000086758.17 | transcript | ENST00000262854.11 | protein_coding | 6/83 | chrX | TogoVar |