view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRX_chr19_40388768_40418378 | 40399901 | TTCTTTTT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG02071.hp1 NA19009.hp1 others(1): Show |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0001 | a0002c0002t0001g0121a0002c0002t0001g0161a0005c0005t0001g0041others(1): Show | 4 | 306 | 0.0131 | -8 | c.185 others(25): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 5/6 | chr19 | TogoVar | |||||||
PRX_chr19_40388768_40418378 | 40405626 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01109.hp2 others(21): Show |
a0002a0005a0006others(1): Show | a0002c0002a0005c0005a0006c0006others(1): Show | a0002c0002t0001a0005c0005t0001a0005c0005t0002others(2): Show | a0002c0002t0001g0015a0002c0002t0001g0049a0002c0002t0001g0086others(20): Show | 24 | 306 | 0.0784 | -8 | c.28- others(23): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
PRX_chr19_40388768_40418378 | 40407212 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG01891.hp1 others(14): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0002c0002t0001a0006c0006t0001 | a0001c0001t0001g0003a0001c0001t0001g0054a0001c0001t0001g0065others(11): Show | 17 | 306 | 0.0556 | -8 | c.27+ others(21): Show |
PRX | ENSG00000105227.16 | transcript | ENST00000324001.8 | protein_coding | 4/6 | chr19 | TogoVar | |||||||
PSAPL1_chr4_7425285_7439930 | 7427840 | ACCGCCCC others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(38): Show |
a0001a0003a0009others(1): Show | a0001c0003a0003c0005a0009c0019others(1): Show | a0001c0003t0004a0001c0003t0012a0001c0003t0044others(3): Show | a0001c0003t0004g0000a0001c0003t0012g0000a0001c0003t0044g0000others(3): Show | 41 | 456 | 0.0899 | -8 | c.*54 others(19): Show |
PSAPL1 | ENSG00000178597.7 | transcript | ENST00000319098.7 | protein_coding | 2444 | chr4 | TogoVar | |||||||
PSAP_chr10_71811298_71856251 | 71822950 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG02135.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0169a0001c0001t0001g0172others(4): Show | 8 | 430 | 0.0186 | -8 | c.778 others(23): Show |
PSAP | ENSG00000197746.15 | transcript | ENST00000394936.8 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
PSAP_chr10_71811298_71856251 | 71835219 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG02145.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0007t0001 | a0001c0001t0001g0222a0001c0001t0002g0028a0001c0001t0002g0059others(4): Show | 8 | 430 | 0.0186 | -8 | c.41- others(21): Show |
PSAP | ENSG00000197746.15 | transcript | ENST00000394936.8 | protein_coding | 1/13 | chr10 | TogoVar | |||||||
PSAP_chr10_71811298_71856251 | 71853211 | AAAACAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02486.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021a0001c0001t0002g0045a0001c0001t0002g0164others(3): Show | 9 | 430 | 0.0209 | -8 | c.-19 others(19): Show |
PSAP | ENSG00000197746.15 | transcript | ENST00000394936.8 | protein_coding | 1961 | chr10 | TogoVar | |||||||
PSAT1_chr9_78292125_78335093 | 78302733 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02074.hp2 HG02698.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0031a0001c0001t0001g0033a0001c0001t0001g0157others(7): Show | 10 | 416 | 0.0240 | -8 | c.191 others(23): Show |
PSAT1 | ENSG00000135069.14 | transcript | ENST00000376588.4 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PSD2_chr5_139790808_139849466 | 139792859 | TTTCCTTC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00639.hp2 others(40): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0049a0001c0001t0001g0050others(39): Show | 43 | 276 | 0.1558 | -8 | c.-31 others(19): Show |
PSD2 | ENSG00000146005.4 | transcript | ENST00000274710.4 | protein_coding | 2948 | chr5 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18594149 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG02300.hp2 |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0009a0003c0004t0035 | a0002c0003t0009g0106a0003c0004t0035g0020 | 2 | 228 | 0.0088 | -8 | c.248 others(27): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 12/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18625187 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00609.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(18): Show | a0001c0001t0001g0005a0001c0001t0001g0054a0001c0001t0001g0212others(21): Show | 24 | 228 | 0.1053 | -8 | c.241 others(27): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 11/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18684204 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00609.hp1 others(40): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0017others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(31): Show | a0001c0001t0001g0030a0001c0001t0001g0055a0001c0001t0001g0068others(40): Show | 43 | 228 | 0.1886 | -8 | c.217 others(29): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18705534 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0017a0001c0001t0055others(3): Show | a0001c0001t0002g0149a0001c0001t0017g0150a0001c0001t0055g0171others(3): Show | 6 | 228 | 0.0263 | -8 | c.217 others(29): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18752522 | ATATATAA others(1): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG01496.hp1 HG02145.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0017a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0054a0001c0001t0057others(8): Show | a0001c0001t0001g0055a0001c0001t0001g0060a0001c0001t0054g0083others(9): Show | 12 | 228 | 0.0526 | -8 | c.217 others(29): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18752546 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01496.hp1 HG02145.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0017a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0054a0001c0001t0057others(8): Show | a0001c0001t0001g0055a0001c0001t0001g0060a0001c0001t0054g0083others(9): Show | 12 | 228 | 0.0526 | -8 | c.217 others(29): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18752569 | ATATATAA others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02559.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0019a0001c0002t0019 | a0001c0001t0003g0151a0001c0001t0019g0186a0001c0002t0019g0182 | 3 | 228 | 0.0132 | -8 | c.217 others(29): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18752585 | ATTATATA others(1): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02818.hp1 HG02818.hp2 others(1): Show |
a0001a0006 | a0001c0001a0001c0028a0006c0019 | a0001c0001t0055a0001c0001t0058a0001c0028t0006others(1): Show | a0001c0001t0055g0171a0001c0001t0058g0016a0001c0028t0006g0195others(1): Show | 4 | 228 | 0.0175 | -8 | c.217 others(29): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 9/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18821855 | ACACACAT others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02056.hp1 HG02818.hp2 others(9): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0016others(3): Show | a0001c0001t0028a0001c0001t0052a0001c0002t0010others(7): Show | a0001c0001t0028g0040a0001c0001t0052g0203a0001c0002t0010g0039others(9): Show | 12 | 228 | 0.0526 | -8 | c.163 others(29): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18823773 | AACACACT others(1): Show |
A | intron_variant | MODIFIER | HG02056.hp1 HG02523.hp2 HG03490.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0016a0002c0003others(1): Show | a0001c0001t0047a0001c0016t0001a0002c0003t0001others(6): Show | a0001c0001t0047g0090a0001c0016t0001g0069a0001c0016t0001g0085others(8): Show | 11 | 228 | 0.0483 | -8 | c.163 others(29): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18865224 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG04228.hp2 NA18944.hp2 NA20300.hp1 |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0020a0003c0004t0001 | a0001c0001t0001g0060a0001c0002t0020g0191a0003c0004t0001g0067 | 3 | 228 | 0.0132 | -8 | c.163 others(27): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 4/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18879043 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp2 HG01081.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0014a0001c0002t0001a0002c0003t0001others(15): Show | a0001c0001t0014g0209a0001c0002t0001g0211a0002c0003t0001g0052others(19): Show | 22 | 228 | 0.0965 | -8 | c.131 others(25): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18882819 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02486.hp2 HG02717.hp2 others(5): Show |
a0001a0004a0012 | a0001c0001a0001c0023a0004c0009others(2): Show | a0001c0001t0003a0001c0001t0030a0001c0023t0015others(4): Show | a0001c0001t0003g0147a0001c0001t0030g0152a0001c0023t0015g0189others(5): Show | 8 | 228 | 0.0351 | -8 | c.131 others(27): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18913086 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01070.hp2 HG02129.hp1 HG02148.hp1 others(6): Show |
a0001a0003a0004 | a0001c0002a0003c0004a0004c0006others(1): Show | a0001c0002t0032a0003c0004t0027a0004c0006t0001others(4): Show | a0001c0002t0032g0210a0003c0004t0027g0156a0004c0006t0001g0041others(6): Show | 9 | 228 | 0.0395 | -8 | c.130 others(27): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18916297 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00609.hp1 others(24): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(16): Show | a0001c0001t0001g0030a0001c0001t0001g0048a0001c0001t0001g0060others(24): Show | 27 | 228 | 0.1184 | -8 | c.130 others(27): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 2/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18941838 | AATTTTTG others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00738.hp1 HG00738.hp2 others(36): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0013others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0061a0001c0001t0002g0149a0001c0001t0002g0166others(36): Show | 39 | 228 | 0.1711 | -8 | c.22- others(23): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | |||||||
PSD3_chr8_18522303_19018703 | 18944571 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02083.hp1 HG02109.hp1 HG02148.hp1 others(2): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0007others(2): Show | a0001c0001t0002a0001c0002t0019a0002c0007t0031others(2): Show | a0001c0001t0002g0200a0001c0002t0019g0199a0002c0007t0031g0001others(2): Show | 5 | 228 | 0.0219 | -8 | c.22- others(23): Show |
PSD3 | ENSG00000156011.19 | transcript | ENST00000327040.13 | protein_coding | 1/15 | chr8 | TogoVar | |||||||
PSD4_chr2_113168971_113214391 | 113169675 | TAAATAAT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(199): Show |
a0001a0002a0003others(10): Show | a0001c0002a0001c0003a0001c0005others(21): Show | a0001c0002t0004a0001c0002t0010a0001c0002t0026others(99): Show | a0001c0002t0004g0080a0001c0002t0004g0199a0001c0002t0010g0145others(163): Show | 202 | 380 | 0.5316 | -8 | c.-44 others(19): Show |
PSD4 | ENSG00000125637.16 | transcript | ENST00000245796.11 | protein_coding | 4295 | chr2 | TogoVar | |||||||
PSD_chr10_102397619_102423785 | 102418060 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00558.hp1 others(43): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0011a0003c0005t0001 | a0001c0001t0001g0004a0001c0001t0001g0042a0001c0001t0001g0043others(13): Show | 46 | 388 | 0.1186 | -8 | c.-84 others(23): Show |
PSD | ENSG00000059915.17 | transcript | ENST00000020673.6 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73134487 | CATTTATT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG02976.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0205a0001c0001t0003g0214a0001c0001t0004g0101others(3): Show | 6 | 378 | 0.0159 | -8 | c.-22 others(19): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 2019 | chr14 | TogoVar | |||||||
PSEN1_chr14_73131507_73228691 | 73138191 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01074.hp2 HG01496.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0095a0001c0001t0002g0266a0001c0001t0002g0270others(22): Show | 25 | 378 | 0.0661 | -8 | c.-13 others(27): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73158282 | TTCTATCT others(1): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG00738.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0099a0001c0001t0001g0137a0001c0001t0002g0141others(7): Show | 10 | 378 | 0.0265 | -8 | c.87+ others(25): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSEN1_chr14_73131507_73228691 | 73212088 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00639.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0070a0001c0001t0001g0100a0001c0001t0001g0109others(25): Show | 28 | 378 | 0.0741 | -8 | c.112 others(25): Show |
PSEN1 | ENSG00000080815.20 | transcript | ENST00000324501.10 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PSG2_chr19_43059209_43087701 | 43068466 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02451.hp1 others(17): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0003a0002c0017others(3): Show | a0001c0001t0001a0002c0003t0001a0002c0017t0001others(3): Show | a0001c0001t0001g0223a0002c0003t0001g0011a0002c0003t0001g0015others(12): Show | 20 | 424 | 0.0472 | -8 | c.965 others(25): Show |
PSG2 | ENSG00000242221.9 | transcript | ENST00000406487.6 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
PSG2_chr19_43059209_43087701 | 43081350 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00738.hp2 others(55): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0019others(25): Show | 58 | 424 | 0.1368 | -8 | c.65- others(21): Show |
PSG2 | ENSG00000242221.9 | transcript | ENST00000406487.6 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
PSG3_chr19_42716642_42745481 | 42736612 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(166): Show |
a0001a0002a0006others(4): Show | a0001c0001a0002c0002a0006c0006others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(79): Show | 169 | 368 | 0.4592 | -8 | c.430 others(25): Show |
PSG3 | ENSG00000221826.10 | transcript | ENST00000327495.10 | protein_coding | 2/6 | chr19 | TogoVar | |||||||
PSG4_chr19_43187702_43210638 | 43189170 | TTGTATTG others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001a0002a0005others(17): Show | a0001c0001a0001c0010a0001c0011others(24): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(33): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0013others(147): Show | 229 | 300 | 0.7633 | -8 | c.*41 others(19): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 3531 | chr19 | TogoVar | |||||||
PSG4_chr19_43187702_43210638 | 43200387 | AAAATTGC others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(178): Show |
a0001a0005a0006others(12): Show | a0001c0001a0001c0010a0001c0011others(18): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(24): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0013others(118): Show | 181 | 300 | 0.6033 | -8 | c.431 others(25): Show |
PSG4 | ENSG00000243137.8 | transcript | ENST00000405312.8 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG5_chr19_43162743_43191536 | 43189170 | TTGTATTG others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(353): Show |
a0001a0002a0003others(18): Show | a0001c0001a0002c0002a0002c0009others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(27): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(205): Show | 356 | 430 | 0.8279 | -8 | c.-27 others(19): Show |
PSG5 | ENSG00000204941.14 | transcript | ENST00000342951.11 | protein_coding | 2635 | chr19 | TogoVar | |||||||
PSG6_chr19_42897086_42922894 | 42918104 | GACACACA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02451.hp1 HG02486.hp1 others(5): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006others(1): Show | a0001c0001t0001a0002c0002t0001a0006c0006t0001others(1): Show | a0001c0001t0001g0005a0002c0002t0001g0003a0006c0006t0001g0030others(3): Show | 8 | 414 | 0.0193 | -8 | c.-32 others(17): Show |
PSG6 | ENSG00000170848.16 | transcript | ENST00000187910.7 | protein_coding | 211 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42933266 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG02970.hp1 NA19060.hp2 |
a0001 | a0001c0002a0001c0015 | a0001c0002t0002a0001c0015t0004 | a0001c0002t0002g0059a0001c0015t0004g0343a0001c0015t0004g0344 | 3 | 416 | 0.0072 | -8 | c.430 others(25): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 2/5 | chr19 | TogoVar | |||||||
PSG7_chr19_42919132_42942207 | 42935873 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01070.hp2 others(23): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0003 | a0001c0002t0002g0003a0001c0002t0002g0061a0001c0002t0002g0062others(15): Show | 26 | 416 | 0.0625 | -8 | c.65- others(21): Show |
PSG7 | ENSG00000221878.13 | transcript | ENST00000406070.7 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
PSG8_chr19_42749233_42770678 | 42765890 | GACACACA others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00558.hp1 others(57): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0001c0017others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0008t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(31): Show | 60 | 438 | 0.1370 | -8 | c.-31 others(17): Show |
PSG8 | ENSG00000124467.20 | transcript | ENST00000306511.5 | protein_coding | 213 | chr19 | TogoVar | |||||||
PSIP1_chr9_15459066_15515970 | 15503365 | CAAAAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG01361.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(1): Show | a0001c0001t0001g0269a0001c0001t0003g0010a0001c0001t0003g0256others(25): Show | 29 | 300 | 0.0967 | -8 | c.149 others(25): Show |
PSIP1 | ENSG00000164985.15 | transcript | ENST00000380733.9 | protein_coding | 3/15 | chr9 | TogoVar | |||||||
PSKH2_chr8_86042109_86074668 | 86049675 | GAAGAAAG others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00673.hp1 HG01261.hp2 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0012a0002c0002t0002others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0226a0001c0001t0001g0228others(10): Show | 23 | 420 | 0.0548 | -8 | c.853 others(23): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
PSKH2_chr8_86042109_86074668 | 86049742 | GAAAGAAA others(1): Show |
G | intron_variant | MODIFIER | HG01071.hp1 HG01433.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0009a0001c0007t0001 | a0001c0001t0001g0032a0001c0001t0001g0072a0001c0001t0001g0077others(3): Show | 8 | 420 | 0.0191 | -8 | c.853 others(23): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
PSKH2_chr8_86042109_86074668 | 86049781 | AAAGAAAG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(131): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0006others(1): Show | a0001c0001t0002a0002c0002t0002a0002c0002t0007others(4): Show | a0001c0001t0002g0119a0001c0001t0002g0185a0002c0002t0002g0008others(95): Show | 134 | 420 | 0.3191 | -8 | c.853 others(25): Show |
PSKH2 | ENSG00000147613.8 | transcript | ENST00000276616.3 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
PSMA2_chr7_42911861_42937174 | 42930217 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(71): Show | 257 | 336 | 0.7649 | -8 | c.41+ others(23): Show |
PSMA2 | ENSG00000106588.12 | transcript | ENST00000223321.9 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
PSMA4_chr15_78535444_78557417 | 78554595 | CAGTTGGA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG02015.hp2 HG02074.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002a0001c0001t0003g0021a0001c0001t0003g0061 | 30 | 430 | 0.0698 | -8 | c.*56 others(19): Show |
PSMA4 | ENSG00000041357.16 | transcript | ENST00000044462.12 | protein_coding | 2179 | chr15 | TogoVar | |||||||
PSMA6_chr14_35287382_35322493 | 35289915 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01074.hp1 HG01346.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036a0001c0001t0003g0037a0001c0001t0003g0174others(12): Show | 17 | 380 | 0.0447 | -8 | c.-25 others(19): Show |
PSMA6 | ENSG00000100902.11 | transcript | ENST00000261479.9 | protein_coding | 2466 | chr14 | TogoVar | |||||||
PSMA8_chr18_26128869_26198355 | 26163213 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01081.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0010a0001c0001t0001g0148a0001c0001t0001g0149others(16): Show | 20 | 268 | 0.0746 | -8 | c.477 others(25): Show |
PSMA8 | ENSG00000154611.15 | transcript | ENST00000415576.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |