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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HPRT1_chrX_134455165_134505668 | 134504906 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 276 | 0.0036 | 7 | c.*48 others(18): Show |
HPRT1 | ENSG00000165704.15 | transcript | ENST00000298556.8 | protein_coding | 4239 | chrX | TogoVar | ||||||
HPS3_chr3_149124638_149178732 | 149151587 | T | TAAAAAAA | intron_variant | MODIFIER | HG03139.hp1 HG03453.hp2 HG03579.hp1 others(3): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0008a0001c0002t0017others(2): Show | a0001c0002t0002g0055a0001c0002t0008g0061a0001c0002t0017g0054others(3): Show | 6 | 392 | 0.0153 | 7 | c.124 others(24): Show |
HPS3 | ENSG00000163755.9 | transcript | ENST00000296051.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HPS5_chr11_18273676_18327140 | 18302831 | G | GGGGGGGA | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00639.hp2 others(24): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(4): Show | a0001c0001t0001g0076a0001c0004t0001g0301a0001c0004t0001g0305others(22): Show | 27 | 372 | 0.0726 | 7 | c.897 others(24): Show |
HPS5 | ENSG00000110756.18 | transcript | ENST00000349215.8 | protein_coding | 8/22 | chr11 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 98571940 | C | CTTTCTTT | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01081.hp1 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0013a0001c0001t0001g0034a0001c0001t0001g0052others(28): Show | 31 | 142 | 0.2183 | 7 | c.132 others(28): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 9/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99094541 | T | TATATATA | intron_variant | MODIFIER | HG01167.hp2 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0095a0001c0001t0006g0007 | 2 | 142 | 0.0141 | 7 | c.610 others(26): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | ||||||
HPSE2_chr10_98452077_99240852 | 99132146 | G | GAAGAAGA | intron_variant | MODIFIER | HG01928.hp1 HG02273.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0015a0002c0002t0002g0017 | 2 | 142 | 0.0141 | 7 | c.610 others(26): Show |
HPSE2 | ENSG00000172987.14 | transcript | ENST00000370552.8 | protein_coding | 3/11 | chr10 | TogoVar | ||||||
HPSE_chr4_83287461_83339848 | 83300814 | C | CAAAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG01433.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0002g0004a0001c0001t0002g0083a0001c0001t0002g0095others(18): Show | 21 | 320 | 0.0656 | 7 | c.147 others(24): Show |
HPSE | ENSG00000173083.16 | transcript | ENST00000311412.10 | protein_coding | 11/11 | chr4 | TogoVar | ||||||
HPSE_chr4_83287461_83339848 | 83321987 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01070.hp2 others(20): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0006others(5): Show | a0001c0001t0001g0055a0001c0001t0001g0066a0001c0001t0001g0307others(20): Show | 23 | 320 | 0.0719 | 7 | c.373 others(22): Show |
HPSE | ENSG00000173083.16 | transcript | ENST00000311412.10 | protein_coding | 2/11 | chr4 | TogoVar | ||||||
HRAS_chr11_527242_540576 | 539384 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00609.hp2 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0001a0001c0002t0001g0003a0001c0002t0001g0014others(7): Show | 47 | 397 | 0.1184 | 7 | c.-40 others(18): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 3809 | chr11 | TogoVar | ||||||
HRH1_chr3_11149493_11268557 | 11176168 | C | CAAAAAAA | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01175.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0113others(18): Show | 21 | 352 | 0.0597 | 7 | c.-36 others(26): Show |
HRH1 | ENSG00000196639.7 | transcript | ENST00000431010.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
HRH2_chr5_175653071_175715756 | 175658713 | G | GGATGACC | intron_variant | MODIFIER | HG00438.hp1 HG02055.hp1 HG02055.hp2 others(41): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0012a0001c0001t0001g0041a0001c0001t0001g0045others(36): Show | 44 | 264 | 0.1667 | 7 | c.-52 others(24): Show |
HRH2 | ENSG00000113749.8 | transcript | ENST00000636584.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HRH2_chr5_175653071_175715756 | 175697462 | C | CAAAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01106.hp1 HG01361.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0045a0001c0001t0001g0049a0001c0001t0001g0054others(18): Show | 22 | 264 | 0.0833 | 7 | c.107 others(28): Show |
HRH2 | ENSG00000113749.8 | transcript | ENST00000636584.2 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
HRH4_chr18_24455637_24484961 | 24470501 | A | ATTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG01074.hp2 HG02647.hp1 others(3): Show |
a0001a0004 | a0001c0001a0001c0006a0004c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0029others(2): Show | a0001c0001t0002g0145a0001c0001t0002g0188a0001c0001t0005g0163others(3): Show | 6 | 424 | 0.0142 | 7 | c.357 others(24): Show |
HRH4 | ENSG00000134489.7 | transcript | ENST00000256906.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
HS2ST1_chr1_86909635_87114982 | 86990837 | T | TATATATA | intron_variant | MODIFIER | HG01256.hp1 HG02965.hp2 HG03831.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0024 | a0001c0001t0001g0067a0001c0001t0001g0076a0001c0001t0001g0081others(3): Show | 6 | 154 | 0.0390 | 7 | c.124 others(26): Show |
HS2ST1 | ENSG00000153936.18 | transcript | ENST00000370550.10 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
HS3ST1_chr4_11388150_11433894 | 11429643 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG01884.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0047a0001c0001t0001g0060a0001c0001t0002g0013others(13): Show | 17 | 440 | 0.0386 | 7 | c.-10 others(18): Show |
HS3ST1 | ENSG00000002587.10 | transcript | ENST00000002596.6 | protein_coding | 750 | chr4 | TogoVar | ||||||
HS3ST2_chr16_22809162_22921338 | 22818925 | C | CCTTCCTT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02895.hp1 others(8): Show |
a0001a0003 | a0001c0002a0003c0008 | a0001c0002t0001a0003c0008t0002 | a0001c0002t0001g0065a0001c0002t0001g0066a0001c0002t0001g0111others(8): Show | 11 | 350 | 0.0314 | 7 | c.485 others(24): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HS3ST2_chr16_22809162_22921338 | 22818951 | C | CTTCCTCA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00609.hp2 others(33): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0161a0001c0001t0001g0224others(33): Show | 36 | 350 | 0.1029 | 7 | c.485 others(24): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HS3ST2_chr16_22809162_22921338 | 22819086 | C | CCTTCCCT | intron_variant | MODIFIER | HG01175.hp2 HG02451.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0217a0001c0001t0001g0218a0001c0001t0001g0299 | 3 | 350 | 0.0086 | 7 | c.485 others(24): Show |
HS3ST2 | ENSG00000122254.7 | transcript | ENST00000261374.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HS3ST3A1_chr17_13489032_13606929 | 13512305 | C | CAAAAAAA | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG01074.hp1 others(23): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0097a0001c0001t0002g0105a0001c0001t0002g0268others(23): Show | 26 | 338 | 0.0769 | 7 | c.600 others(26): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
HS3ST3A1_chr17_13489032_13606929 | 13534547 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG01952.hp2 HG02280.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(4): Show | a0001c0001t0003g0178a0001c0001t0003g0270a0001c0001t0006g0120others(7): Show | 10 | 338 | 0.0296 | 7 | c.600 others(26): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
HS3ST3A1_chr17_13489032_13606929 | 13585186 | C | CTTTTTTT | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01168.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0004a0001c0001t0010a0001c0001t0014others(7): Show | a0001c0001t0004g0019a0001c0001t0010g0031a0001c0001t0014g0012others(8): Show | 11 | 338 | 0.0325 | 7 | c.599 others(26): Show |
HS3ST3A1 | ENSG00000153976.3 | transcript | ENST00000284110.2 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
HS3ST3B1_chr17_14296081_14354404 | 14329366 | A | AAAGAAAG | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01071.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0063a0001c0002t0003 | a0001c0001t0004g0130a0001c0001t0004g0131a0001c0001t0063g0364others(1): Show | 4 | 432 | 0.0093 | 7 | c.555 others(26): Show |
HS3ST3B1 | ENSG00000125430.9 | transcript | ENST00000360954.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
HS3ST4_chr16_25686959_26142685 | 26098958 | A | AAGGGTGC | intron_variant | MODIFIER | HG02486.hp2 HG02922.hp1 HG03209.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0003 | a0001c0001t0003g0001a0001c0001t0003g0162a0003c0003t0003g0064 | 3 | 164 | 0.0183 | 7 | c.735 others(26): Show |
HS3ST4 | ENSG00000182601.7 | transcript | ENST00000331351.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HS3ST5_chr6_114050596_114348023 | 114103857 | A | ATTTTTTT | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01099.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0002g0104a0001c0001t0002g0128a0001c0001t0002g0191others(19): Show | 22 | 206 | 0.1068 | 7 | c.-32 others(26): Show |
HS3ST5 | ENSG00000249853.9 | transcript | ENST00000312719.10 | protein_coding | 3/4 | chr6 | TogoVar | ||||||
HS6ST2_chrX_132621015_132963629 | 132650763 | C | CTCTCTCT | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 201 | 0.0050 | 7 | c.106 others(28): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 4/4 | chrX | TogoVar | ||||||
HS6ST2_chrX_132621015_132963629 | 132793048 | C | CTTTTTTT | intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0009 | a0001c0009t0002 | a0001c0009t0002g0198 | 1 | 201 | 0.0050 | 7 | c.948 others(26): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | ||||||
HS6ST3_chr13_96085107_96844562 | 96152333 | T | TTTTTTTG | intron_variant | MODIFIER | HG02965.hp1 HG04204.hp2 NA19007.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0048a0001c0001t0001g0068a0001c0001t0003g0057others(2): Show | 5 | 116 | 0.0431 | 7 | c.707 others(26): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96270613 | G | GGTATATA | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(39): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0023a0001c0001t0001g0024a0001c0001t0001g0029others(39): Show | 42 | 116 | 0.3621 | 7 | c.707 others(28): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96397854 | T | TTATGAGG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00558.hp1 others(63): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0023a0001c0001t0001g0024others(63): Show | 66 | 116 | 0.5690 | 7 | c.707 others(28): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96464138 | C | CAAAAAAA | intron_variant | MODIFIER | HG02080.hp1 HG02895.hp1 NA18747.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0070a0001c0001t0001g0109a0001c0001t0002g0088others(5): Show | 8 | 116 | 0.0690 | 7 | c.708 others(28): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HS6ST3_chr13_96085107_96844562 | 96689606 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00639.hp1 others(20): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0041a0001c0001t0001g0043a0001c0001t0001g0070others(20): Show | 23 | 116 | 0.1983 | 7 | c.708 others(28): Show |
HS6ST3 | ENSG00000185352.10 | transcript | ENST00000376705.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
HSBP1_chr16_83802978_83824737 | 83822044 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp1 others(134): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0017others(44): Show | 137 | 468 | 0.2927 | 7 | c.*10 others(20): Show |
HSBP1 | ENSG00000230989.8 | transcript | ENST00000433866.7 | protein_coding | 2308 | chr16 | TogoVar | ||||||
HSCB_chr22_28737039_28762510 | 28750945 | C | CTTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0019a0001c0001t0001g0020others(12): Show | 30 | 410 | 0.0732 | 7 | c.569 others(22): Show |
HSCB | ENSG00000100209.11 | transcript | ENST00000216027.8 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
HSD17B11_chr4_87331515_87396188 | 87357948 | A | ATTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG01168.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0271a0001c0001t0001g0272a0001c0001t0001g0287others(16): Show | 19 | 390 | 0.0487 | 7 | c.558 others(22): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87357949 | A | ATTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG01261.hp1 HG02055.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0199a0001c0001t0001g0200a0001c0001t0001g0202others(30): Show | 33 | 390 | 0.0846 | 7 | c.558 others(22): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87370755 | A | ATTATTAT | intron_variant | MODIFIER | HG01168.hp2 HG02040.hp2 HG02083.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0007a0001c0001t0001g0176a0001c0001t0001g0253others(15): Show | 19 | 390 | 0.0487 | 7 | c.557 others(24): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87370755 | A | ATTATTTT | intron_variant | MODIFIER | HG00609.hp1 HG04204.hp1 NA18612.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0180a0001c0001t0001g0190a0001c0001t0001g0287others(15): Show | 18 | 390 | 0.0462 | 7 | c.557 others(24): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
HSD17B11_chr4_87331515_87396188 | 87370757 | T | TATTATTA | intron_variant | MODIFIER | HG00673.hp2 NA18949.hp1 NA18964.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0299a0001c0001t0001g0302a0001c0001t0001g0308others(2): Show | 5 | 390 | 0.0128 | 7 | c.557 others(24): Show |
HSD17B11 | ENSG00000198189.11 | transcript | ENST00000358290.9 | protein_coding | 4/6 | chr4 | TogoVar | ||||||
HSD17B12_chr11_43675738_43861615 | 43690398 | A | ATTTTTTT | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0246a0001c0003t0003g0249a0001c0003t0003g0250others(1): Show | 4 | 280 | 0.0143 | 7 | c.160 others(24): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HSD17B12_chr11_43675738_43861615 | 43757639 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG01167.hp2 HG03540.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004 | a0001c0001t0001a0001c0003t0001a0003c0004t0001 | a0001c0001t0001g0004a0001c0001t0001g0213a0001c0001t0001g0216others(6): Show | 9 | 280 | 0.0321 | 7 | c.283 others(24): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
HSD17B12_chr11_43675738_43861615 | 43777190 | C | CAAGGCAA | intron_variant | MODIFIER | HG02809.hp1 HG02886.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007 | 3 | 280 | 0.0107 | 7 | c.284 others(26): Show |
HSD17B12 | ENSG00000149084.13 | transcript | ENST00000278353.10 | protein_coding | 3/10 | chr11 | TogoVar | ||||||
HSD17B13_chr4_87298794_87327882 | 87308932 | C | CAAAAAAA | intron_variant | MODIFIER | HG02559.hp1 HG03041.hp2 HG03130.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0005 | a0001c0001t0002g0059a0001c0001t0002g0170a0001c0001t0002g0307others(3): Show | 6 | 442 | 0.0136 | 7 | c.812 others(24): Show |
HSD17B13 | ENSG00000170509.12 | transcript | ENST00000328546.5 | protein_coding | 6/6 | chr4 | TogoVar | ||||||
HSD17B14_chr19_48808018_48841491 | 48811494 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(67): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0045others(67): Show | 70 | 394 | 0.1777 | 7 | c.*16 others(18): Show |
HSD17B14 | ENSG00000087076.9 | transcript | ENST00000263278.9 | protein_coding | 1523 | chr19 | TogoVar | ||||||
HSD17B2_chr16_82030253_82103534 | 82090302 | G | GTTTTTTT | intron_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0249a0001c0001t0001g0313a0001c0001t0001g0321others(4): Show | 7 | 366 | 0.0191 | 7 | c.665 others(22): Show |
HSD17B2 | ENSG00000086696.11 | transcript | ENST00000199936.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
HSD17B3_chr9_96230306_96307176 | 96231894 | T | TTTTTTTG | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00438.hp1 others(105): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0017others(105): Show | 108 | 374 | 0.2888 | 7 | c.*35 others(18): Show |
HSD17B3 | ENSG00000130948.10 | transcript | ENST00000375263.8 | protein_coding | 3411 | chr9 | TogoVar | ||||||
HSD17B6_chr12_56758324_56792790 | 56777365 | A | ATTTTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00609.hp1 others(109): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(95): Show | 112 | 360 | 0.3111 | 7 | c.313 others(24): Show |
HSD17B6 | ENSG00000025423.11 | transcript | ENST00000322165.1 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
HSD3B1_chr1_119502210_119520054 | 119510717 | C | CTTTTTTT | intron_variant | MODIFIER | HG01167.hp1 HG02897.hp1 HG03491.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0045a0001c0001t0001g0071a0001c0001t0001g0087others(1): Show | 9 | 410 | 0.0220 | 7 | c.146 others(22): Show |
HSD3B1 | ENSG00000203857.10 | transcript | ENST00000369413.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HSD3B2_chr1_119410150_119428034 | 119426106 | T | TTCCCATA | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019a0001c0001t0002g0062 | 5 | 442 | 0.0113 | 7 | c.*34 others(18): Show |
HSD3B2 | ENSG00000203859.10 | transcript | ENST00000369416.4 | protein_coding | 3073 | chr1 | TogoVar | ||||||
HSDL2_chr9_112375108_112477405 | 112376252 | G | GTTTTTTT | upstream_gene_variant | MODIFIER | HG01433.hp1 NA18944.hp1 NA18945.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0014a0001c0001t0001g0019a0001c0001t0001g0030others(3): Show | 6 | 366 | 0.0164 | 7 | c.-39 others(18): Show |
HSDL2 | ENSG00000119471.15 | transcript | ENST00000398805.8 | protein_coding | 3855 | chr9 | TogoVar | ||||||
HSFX2_chrX_149587512_149600314 | 149589678 | A | ATCCACTG | downstream_gene_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 279 | 0.0036 | 7 | c.*29 others(18): Show |
HSFX2 | ENSG00000268738.3 | transcript | ENST00000598963.3 | protein_coding | 2833 | chrX | TogoVar |