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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ERO1A_chr14_52634915_52700558 | 52647142 | ATTTTTT | A | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00642.hp1 others(86): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(81): Show | 89 | 398 | 0.2236 | -6 | c.112 others(23): Show |
ERO1A | ENSG00000197930.13 | transcript | ENST00000395686.8 | protein_coding | 13/15 | chr14 | TogoVar | ||||||
ERO1A_chr14_52634915_52700558 | 52668776 | CTATAAT | C | intron_variant | MODIFIER | HG01099.hp1 HG01943.hp1 HG01978.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0030a0001c0001t0031 | a0001c0001t0007g0016a0001c0001t0007g0080a0001c0001t0007g0310others(7): Show | 11 | 398 | 0.0276 | -6 | c.509 others(23): Show |
ERO1A | ENSG00000197930.13 | transcript | ENST00000395686.8 | protein_coding | 6/15 | chr14 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236213677 | TAGAAAC | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(141): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0017others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0013others(138): Show | 144 | 396 | 0.3636 | -6 | c.*48 others(17): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 1423 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236220027 | TTAAAAA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(253): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0013others(250): Show | 256 | 396 | 0.6465 | -6 | c.134 others(23): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 15/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236245324 | ACACACG | A | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG01243.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(4): Show | a0001c0001t0001g0033a0001c0001t0001g0062a0001c0001t0002g0101others(5): Show | 8 | 396 | 0.0202 | -6 | c.432 others(23): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236245351 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG02145.hp1 HG02148.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0022 | a0001c0001t0001g0055a0001c0001t0001g0063a0001c0001t0001g0108others(3): Show | 6 | 396 | 0.0152 | -6 | c.432 others(23): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236245352 | ACACACG | A | intron_variant | MODIFIER | HG00639.hp1 HG00673.hp2 HG01358.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0011a0001c0001t0002g0091a0001c0001t0009g0010 | 3 | 396 | 0.0076 | -6 | c.432 others(23): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236245379 | TACACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG01928.hp1 HG01952.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0022 | a0001c0001t0001g0028a0001c0001t0001g0050a0001c0001t0001g0055others(5): Show | 8 | 396 | 0.0202 | -6 | c.432 others(23): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236245436 | ACACACG | A | intron_variant | MODIFIER | HG03225.hp2 NA19070.hp1 NA19075.hp1 |
a0001a0007 | a0001c0001a0007c0011 | a0001c0001t0001a0001c0001t0036a0007c0011t0071 | a0001c0001t0001g0087a0001c0001t0036g0034a0007c0011t0071g0016 | 3 | 396 | 0.0076 | -6 | c.432 others(23): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236245542 | ATGTATG | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp2 others(29): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(9): Show | a0001c0001t0001g0013a0001c0001t0001g0025a0001c0001t0001g0047others(29): Show | 32 | 396 | 0.0808 | -6 | c.432 others(23): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236250572 | CATATAT | C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01243.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0004others(1): Show | a0001c0001t0003a0001c0001t0049a0001c0003t0002others(5): Show | a0001c0001t0003g0297a0001c0001t0049g0309a0001c0003t0002g0168others(7): Show | 10 | 396 | 0.0253 | -6 | c.349 others(21): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 4/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236251193 | TTATTAA | T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp1 others(77): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0001c0009others(3): Show | a0001c0001t0007a0001c0003t0001a0001c0003t0002others(15): Show | a0001c0001t0007g0259a0001c0001t0007g0286a0001c0001t0007g0342others(76): Show | 80 | 396 | 0.2020 | -6 | c.348 others(21): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 4/15 | chr1 | TogoVar | ||||||
ERO1B_chr1_236210101_236286958 | 236273810 | GAAAAAA | G | intron_variant | MODIFIER | NA18961.hp2 NA18977.hp2 NA18988.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005 | a0001c0001t0002g0026a0001c0001t0003g0317a0001c0001t0005g0315others(6): Show | 9 | 396 | 0.0227 | -6 | c.103 others(23): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
ERP27_chr12_14909039_14943537 | 14926285 | GTATTAA | G | intron_variant | MODIFIER | HG02451.hp1 HG03225.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0266a0001c0001t0002g0277a0001c0001t0014g0272 | 3 | 402 | 0.0075 | -6 | c.334 others(23): Show |
ERP27 | ENSG00000139055.7 | transcript | ENST00000266397.7 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
ERP27_chr12_14909039_14943537 | 14927744 | GCACACA | G | intron_variant | MODIFIER | HG02145.hp2 HG02155.hp2 HG02809.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0066a0001c0001t0001g0140a0001c0001t0001g0168others(9): Show | 12 | 402 | 0.0299 | -6 | c.334 others(23): Show |
ERP27 | ENSG00000139055.7 | transcript | ENST00000266397.7 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
ERP44_chr9_99974185_100104000 | 100024152 | TCAACAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(52): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0128a0001c0001t0001g0132a0001c0001t0001g0161others(51): Show | 55 | 220 | 0.2500 | -6 | c.287 others(23): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 4/11 | chr9 | TogoVar | ||||||
ERP44_chr9_99974185_100104000 | 100067162 | CCTCTCG | C | intron_variant | MODIFIER | HG01081.hp1 HG03209.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002a0001c0001t0006g0003a0001c0001t0006g0004others(1): Show | 4 | 220 | 0.0182 | -6 | c.58- others(21): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
ERP44_chr9_99974185_100104000 | 100079413 | TACACAC | T | intron_variant | MODIFIER | HG00735.hp1 HG01175.hp2 HG01975.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0017a0001c0001t0002g0018a0001c0001t0002g0019others(2): Show | 5 | 220 | 0.0227 | -6 | c.58- others(23): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1/11 | chr9 | TogoVar | ||||||
ERP44_chr9_99974185_100104000 | 100100897 | ATATATG | A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0089a0001c0001t0003g0094others(6): Show | 10 | 220 | 0.0455 | -6 | c.-20 others(17): Show |
ERP44 | ENSG00000023318.9 | transcript | ENST00000262455.7 | protein_coding | 1898 | chr9 | TogoVar | ||||||
ERRFI1_chr1_8006727_8031309 | 8007442 | ACTCTCT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00735.hp1 HG01081.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(9): Show | 30 | 402 | 0.0746 | -6 | c.*57 others(17): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 4284 | chr1 | TogoVar | ||||||
ERV3-1_chr7_64985356_65011687 | 64989443 | TTATATA | T | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00609.hp1 others(31): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0002a0001c0005t0002a0002c0002t0001others(5): Show | a0001c0001t0002g0001a0001c0001t0002g0018a0001c0001t0002g0024others(13): Show | 34 | 458 | 0.0742 | -6 | c.*17 others(17): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 912 | chr7 | TogoVar | ||||||
ERV3-1_chr7_64985356_65011687 | 65009667 | AGAGAGG | A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02818.hp2 HG03130.hp2 others(1): Show |
a0004 | a0004c0004 | a0004c0004t0010a0004c0004t0012 | a0004c0004t0010g0053a0004c0004t0010g0133a0004c0004t0012g0134 | 4 | 458 | 0.0087 | -6 | c.-35 others(17): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 2981 | chr7 | TogoVar | ||||||
ERV3-1_chr7_64985356_65011687 | 65010289 | TTGTGTG | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(92): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0002a0001c0005t0002a0001c0005t0007others(6): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0009others(29): Show | 95 | 458 | 0.2074 | -6 | c.-41 others(17): Show |
ERV3-1 | ENSG00000213462.5 | transcript | ENST00000394323.3 | protein_coding | 3603 | chr7 | TogoVar | ||||||
ESCO1_chr18_21524284_21605704 | 21553449 | TAAAAAA | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp2 others(101): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0016a0001c0001t0001g0017others(98): Show | 104 | 310 | 0.3355 | -6 | c.195 others(25): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 8/11 | chr18 | TogoVar | ||||||
ESCO1_chr18_21524284_21605704 | 21553471 | AAAAAAT | A | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02559.hp1 others(4): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0010 | a0001c0001t0001a0002c0002t0001a0007c0010t0001 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0001t0001g0200others(4): Show | 7 | 310 | 0.0226 | -6 | c.195 others(25): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 8/11 | chr18 | TogoVar | ||||||
ESCO1_chr18_21524284_21605704 | 21579792 | GCGCACA | G | intron_variant | MODIFIER | HG01261.hp1 HG01975.hp1 HG02004.hp2 others(19): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0009others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(2): Show | a0001c0001t0001g0073a0001c0001t0001g0074a0001c0001t0001g0077others(19): Show | 22 | 310 | 0.0710 | -6 | c.-69 others(25): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ESCO1_chr18_21524284_21605704 | 21579794 | GCACACA | G | intron_variant | MODIFIER | HG01109.hp2 HG01123.hp2 HG02622.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0014a0002c0004t0001others(1): Show | a0001c0001t0001g0047a0001c0001t0001g0053a0001c0001t0001g0061others(6): Show | 9 | 310 | 0.0290 | -6 | c.-69 others(25): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 2/11 | chr18 | TogoVar | ||||||
ESCO1_chr18_21524284_21605704 | 21594925 | CTGTGTG | C | intron_variant | MODIFIER | HG02886.hp1 HG03492.hp1 HG04184.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0012 | a0001c0001t0001g0150a0002c0002t0001g0210a0002c0002t0001g0211others(8): Show | 11 | 310 | 0.0355 | -6 | c.-82 others(25): Show |
ESCO1 | ENSG00000141446.11 | transcript | ENST00000269214.10 | protein_coding | 1/11 | chr18 | TogoVar | ||||||
ESF1_chr20_13709325_13789919 | 13716804 | ATTTTTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG01496.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(4): Show | a0001c0001t0001g0108a0001c0001t0001g0109a0001c0001t0001g0218others(20): Show | 25 | 390 | 0.0641 | -6 | c.226 others(23): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 13/13 | chr20 | TogoVar | ||||||
ESF1_chr20_13709325_13789919 | 13748544 | GTGTGTA | G | intron_variant | MODIFIER | HG03704.hp2 NA18970.hp2 NA18980.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0117a0001c0001t0005g0118a0001c0001t0005g0119others(1): Show | 4 | 390 | 0.0103 | -6 | c.182 others(27): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 9/13 | chr20 | TogoVar | ||||||
ESF1_chr20_13709325_13789919 | 13748564 | ATGTGTG | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp2 others(72): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0220a0001c0001t0001g0221a0001c0001t0001g0222others(71): Show | 75 | 390 | 0.1923 | -6 | c.182 others(27): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 9/13 | chr20 | TogoVar | ||||||
ESF1_chr20_13709325_13789919 | 13748570 | GTGTGTA | G | intron_variant | MODIFIER | HG02809.hp2 HG02976.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216a0001c0001t0001g0217a0001c0001t0001g0218 | 3 | 390 | 0.0077 | -6 | c.182 others(27): Show |
ESF1 | ENSG00000089048.15 | transcript | ENST00000617257.2 | protein_coding | 9/13 | chr20 | TogoVar | ||||||
ESPL1_chr12_53263299_53298638 | 53266749 | TTTTTGG | T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00609.hp2 others(54): Show |
a0002a0007a0011others(3): Show | a0002c0003a0007c0007a0007c0032others(4): Show | a0002c0003t0002a0007c0007t0002a0007c0032t0002others(4): Show | a0002c0003t0002g0005a0002c0003t0002g0017a0002c0003t0002g0018others(40): Show | 57 | 334 | 0.1707 | -6 | c.-16 others(17): Show |
ESPL1 | ENSG00000135476.12 | transcript | ENST00000257934.9 | protein_coding | 1549 | chr12 | TogoVar | ||||||
ESPL1_chr12_53263299_53298638 | 53280449 | TCATTTC | T | intron_variant | MODIFIER | HG00597.hp1 HG02486.hp2 HG02896.hp1 others(7): Show |
a0002a0008 | a0002c0003a0008c0008 | a0002c0003t0002a0008c0008t0001 | a0002c0003t0002g0162a0002c0003t0002g0163a0002c0003t0002g0165others(7): Show | 10 | 334 | 0.0299 | -6 | c.249 others(23): Show |
ESPL1 | ENSG00000135476.12 | transcript | ENST00000257934.9 | protein_coding | 12/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ESPNL_chr2_238095340_238138287 | 238103434 | AAAGAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00558.hp1 others(142): Show |
a0001a0002a0003others(16): Show | a0001c0005a0001c0008a0001c0012others(36): Show | a0001c0005t0001a0001c0005t0003a0001c0005t0006others(50): Show | a0001c0005t0001g0122a0001c0005t0003g0009a0001c0005t0003g0050others(122): Show | 145 | 408 | 0.3554 | -6 | c.486 others(23): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ESPNL_chr2_238095340_238138287 | 238126014 | TTGTGTC | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00597.hp1 others(85): Show |
a0001a0002a0003others(10): Show | a0001c0005a0001c0008a0001c0028others(22): Show | a0001c0005t0001a0001c0005t0003a0001c0005t0006others(31): Show | a0001c0005t0001g0122a0001c0005t0003g0009a0001c0005t0003g0052others(74): Show | 88 | 408 | 0.2157 | -6 | c.110 others(23): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ESPNL_chr2_238095340_238138287 | 238126344 | TTGTGTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(81): Show |
a0001a0002a0003others(13): Show | a0001c0008a0001c0012a0001c0016others(33): Show | a0001c0008t0003a0001c0012t0003a0001c0012t0006others(41): Show | a0001c0008t0003g0076a0001c0012t0003g0017a0001c0012t0003g0045others(75): Show | 84 | 408 | 0.2059 | -6 | c.110 others(23): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ESPNL_chr2_238095340_238138287 | 238135691 | AGGAGGC | A | downstream_gene_variant | MODIFIER | HG02015.hp1 NA18612.hp2 NA18975.hp2 others(1): Show |
a0001 | a0001c0002a0001c0016 | a0001c0002t0004a0001c0016t0004 | a0001c0002t0004g0229a0001c0016t0004g0007a0001c0016t0004g0080others(1): Show | 4 | 408 | 0.0098 | -6 | c.*39 others(17): Show |
ESPNL | ENSG00000144488.15 | transcript | ENST00000343063.8 | protein_coding | 2405 | chr2 | TogoVar | ||||||
ESR1_chr6_151802682_152108274 | 151849978 | TTATATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(52): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0005a0001c0001t0001g0028a0001c0001t0001g0044others(52): Show | 55 | 250 | 0.2200 | -6 | c.643 others(23): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ESR1_chr6_151802682_152108274 | 152093348 | CTCTCTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(58): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0025a0001c0001t0001g0048a0001c0001t0001g0063others(57): Show | 61 | 250 | 0.2440 | -6 | c.137 others(25): Show |
ESR1 | ENSG00000091831.25 | transcript | ENST00000206249.8 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ESR2_chr14_64223317_64299371 | 64246734 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(42): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0002a0001c0001t0010a0001c0001t0017others(10): Show | a0001c0001t0002g0003a0001c0001t0002g0030a0001c0001t0002g0032others(41): Show | 45 | 368 | 0.1223 | -6 | c.122 others(25): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 7/8 | chr14 | TogoVar | ||||||
ESR2_chr14_64223317_64299371 | 64253560 | TTGTGTG | T | intron_variant | MODIFIER | HG00544.hp2 HG02040.hp2 HG02071.hp1 others(35): Show |
a0001a0004a0007 | a0001c0002a0001c0003a0001c0015others(2): Show | a0001c0002t0003a0001c0002t0006a0001c0002t0018others(13): Show | a0001c0002t0003g0048a0001c0002t0003g0155a0001c0002t0003g0167others(34): Show | 38 | 368 | 0.1033 | -6 | c.109 others(25): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 6/8 | chr14 | TogoVar | ||||||
ESR2_chr14_64223317_64299371 | 64277625 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(111): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0257a0001c0001t0001g0258a0001c0001t0002g0003others(108): Show | 114 | 368 | 0.3098 | -6 | c.535 others(23): Show |
ESR2 | ENSG00000140009.19 | transcript | ENST00000341099.6 | protein_coding | 3/8 | chr14 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94640576 | CCCTGCA | C | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0180a0001c0001t0001g0267a0001c0001t0001g0268others(3): Show | 6 | 374 | 0.0160 | -6 | c.-74 others(15): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 597 | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94657472 | CGTGTGT | C | intron_variant | MODIFIER | HG02738.hp2 HG04228.hp2 NA18965.hp2 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0284a0001c0001t0001g0305a0001c0008t0001g0276 | 3 | 374 | 0.0080 | -6 | c.491 others(23): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRP1_chr8_94636174_94712466 | 94660709 | CAAAAAA | C | intron_variant | MODIFIER | HG00323.hp2 HG01168.hp1 HG01169.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0001t0011a0001c0002t0001others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0242a0001c0001t0001g0247others(14): Show | 18 | 374 | 0.0481 | -6 | c.491 others(23): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRP1_chr8_94636174_94712466 | 94666786 | GGTTGCT | G | intron_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00735.hp2 others(25): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0001a0001c0003t0001g0088a0001c0003t0001g0134others(24): Show | 28 | 374 | 0.0749 | -6 | c.932 others(23): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRP1_chr8_94636174_94712466 | 94690299 | TTTTTTG | T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(89): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0012 | a0001c0002t0001a0001c0002t0002a0001c0002t0008others(5): Show | a0001c0002t0001g0085a0001c0002t0001g0097a0001c0002t0002g0006others(89): Show | 92 | 374 | 0.2460 | -6 | c.182 others(25): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 13/15 | chr8 | TogoVar | ||||||
ESRP1_chr8_94636174_94712466 | 94700953 | ATGTGTG | A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00597.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0087a0001c0001t0001g0103others(38): Show | 42 | 374 | 0.1123 | -6 | c.*35 others(23): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ESRP1_chr8_94636174_94712466 | 94709752 | GTTGGTT | G | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02886.hp2 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143a0001c0001t0001g0144a0001c0001t0001g0292 | 3 | 374 | 0.0080 | -6 | c.*38 others(17): Show |
ESRP1 | ENSG00000104413.18 | transcript | ENST00000433389.8 | protein_coding | 2287 | chr8 | TogoVar |