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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPRYD4_chr12_56463578_56484708 | 56481199 | CT | C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01891.hp1 HG02015.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0015others(1): Show | a0001c0001t0002g0001 a0001c0001t0005g0001 a0001c0001t0015g0002 others(1): Show |
6 | 370 | 0.0162 | -1 | c.*11 others(7): Show |
SPRYD4 | ENSG00000176422.14 | transcript | ENST00000338146.7 | protein_coding | 1492 | chr12 | TogoVar | |||||||
SPRYD7_chr13_49907702_49941340 | 49909142 | CT | C | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02738.hp2 HG02818.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0013 | a0001c0001t0002g0001 a0001c0001t0002g0049 a0001c0001t0003g0012 others(4): Show |
10 | 380 | 0.0263 | -1 | c.*59 others(6): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 3559 | chr13 | TogoVar | |||||||
SPRYD7_chr13_49907702_49941340 | 49911147 | AT | A | downstream_gene_variant | MODIFIER | HG01167.hp2 HG02280.hp1 HG02602.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0002g0010 others(7): Show |
13 | 380 | 0.0342 | -1 | c.*39 others(6): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 1554 | chr13 | TogoVar | |||||||
SPRYD7_chr13_49907702_49941340 | 49916605 | TA | T | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01167.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0018others(1): Show | a0001c0001t0003g0019 a0001c0001t0003g0036 a0001c0001t0003g0037 others(8): Show |
18 | 380 | 0.0474 | -1 | c.494 others(9): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 4/4 | chr13 | TogoVar | |||||||
SPRYD7_chr13_49907702_49941340 | 49919726 | CA | C | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00733.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0082 a0001c0001t0002g0120 a0001c0001t0003g0019 others(23): Show |
55 | 380 | 0.1447 | -1 | c.493 others(9): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 4/4 | chr13 | TogoVar | |||||||
SPRYD7_chr13_49907702_49941340 | 49921518 | TG | T | frameshift_variant | HIGH | NA19075.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0139 | 1 | 380 | 0.0026 | -1 | c.452 others(4): Show |
p.Pro others(5): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 4/5 | 557/3057 | 452/591 | 151/196 | chr13 | TogoVar | |||
SPRYD7_chr13_49907702_49941340 | 49923659 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00733.hp2 others(56): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0003g0019 a0001c0001t0003g0036 a0001c0001t0003g0037 others(26): Show |
59 | 380 | 0.1553 | -1 | c.391 others(9): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
SPRYD7_chr13_49907702_49941340 | 49924988 | AT | A | intron_variant | MODIFIER | HG00621.hp2 HG02040.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 3 | 380 | 0.0079 | -1 | c.390 others(9): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
SPRYD7_chr13_49907702_49941340 | 49926732 | CT | C | intron_variant | MODIFIER | HG00735.hp2 HG01358.hp1 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0023 | 3 | 380 | 0.0079 | -1 | c.390 others(9): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 3/4 | chr13 | TogoVar | |||||||
SPRYD7_chr13_49907702_49941340 | 49928075 | AC | A | frameshift_variant | HIGH | NA19067.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0168 | 1 | 380 | 0.0026 | -1 | c.233 others(4): Show |
p.Gly others(4): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 3/5 | 338/3057 | 233/591 | 78/196 | chr13 | TogoVar | |||
SPRYD7_chr13_49907702_49941340 | 49929037 | GT | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00733.hp2 others(55): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0003g0019 a0001c0001t0003g0036 a0001c0001t0003g0037 others(25): Show |
58 | 380 | 0.1526 | -1 | c.224 others(8): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 2/4 | chr13 | TogoVar | |||||||
SPRYD7_chr13_49907702_49941340 | 49934555 | CA | C | intron_variant | MODIFIER | HG01256.hp1 HG02647.hp1 HG02735.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0015 a0001c0001t0002g0081 a0001c0001t0002g0082 others(5): Show |
11 | 380 | 0.0290 | -1 | c.106 others(9): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 1/4 | chr13 | TogoVar | |||||||
SPRYD7_chr13_49907702_49941340 | 49937557 | CA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(140): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0002g0001 a0001c0001t0002g0010 a0001c0001t0002g0015 others(55): Show |
143 | 380 | 0.3763 | -1 | c.-13 others(6): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 1218 | chr13 | TogoVar | |||||||
SPRYD7_chr13_49907702_49941340 | 49938052 | AT | A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(89): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0054 others(45): Show |
92 | 380 | 0.2421 | -1 | c.-18 others(6): Show |
SPRYD7 | ENSG00000123178.16 | transcript | ENST00000361840.8 | protein_coding | 1713 | chr13 | TogoVar | |||||||
SPR_chr2_72882408_72897158 | 72884922 | CT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01071.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(5): Show |
61 | 328 | 0.1860 | -1 | c.-25 others(6): Show |
SPR | ENSG00000116096.6 | transcript | ENST00000234454.6 | protein_coding | 2485 | chr2 | TogoVar | |||||||
SPSB1_chr1_9287894_9374532 | 9288863 | AT | A | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01175.hp1 HG01255.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 others(28): Show |
31 | 370 | 0.0838 | -1 | c.-43 others(6): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 4030 | chr1 | TogoVar | |||||||
SPSB1_chr1_9287894_9374532 | 9289428 | AT | A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00733.hp1 others(137): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(43): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0031 others(136): Show |
140 | 370 | 0.3784 | -1 | c.-37 others(6): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 3465 | chr1 | TogoVar | |||||||
SPSB1_chr1_9287894_9374532 | 9290958 | CT | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG00733.hp2 others(110): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(37): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0031 others(109): Show |
113 | 370 | 0.3054 | -1 | c.-22 others(6): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1935 | chr1 | TogoVar | |||||||
SPSB1_chr1_9287894_9374532 | 9291176 | CT | C | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG02083.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(12): Show | a0001c0001t0005g0101 a0001c0001t0005g0227 a0001c0001t0005g0232 others(23): Show |
26 | 370 | 0.0703 | -1 | c.-20 others(6): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1717 | chr1 | TogoVar | |||||||
SPSB1_chr1_9287894_9374532 | 9291539 | TG | T | upstream_gene_variant | MODIFIER | HG02258.hp2 HG02723.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0001t0006a0001c0003t0016 | a0001c0001t0005g0101 a0001c0001t0006g0100 a0001c0001t0006g0102 others(2): Show |
5 | 370 | 0.0135 | -1 | c.-16 others(6): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1354 | chr1 | TogoVar | |||||||
SPSB1_chr1_9287894_9374532 | 9297640 | GT | G | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02622.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0003a0001c0001t0005a0001c0001t0012others(9): Show | a0001c0001t0003g0047 a0001c0001t0003g0221 a0001c0001t0005g0008 others(16): Show |
19 | 370 | 0.0514 | -1 | c.-15 others(10): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
SPSB1_chr1_9287894_9374532 | 9299796 | AT | A | intron_variant | MODIFIER | HG01167.hp1 HG01891.hp1 HG02895.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0060 a0001c0001t0002g0255 a0001c0001t0006g0100 others(9): Show |
12 | 370 | 0.0324 | -1 | c.-15 others(10): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9299963 | CA | C | intron_variant | MODIFIER | HG02451.hp1 HG02602.hp1 HG02886.hp1 others(7): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0033 a0001c0001t0003g0134 a0001c0001t0005g0190 others(7): Show |
10 | 370 | 0.0270 | -1 | c.-15 others(10): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9306929 | TC | T | intron_variant | MODIFIER | HG02976.hp1 HG03834.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0017a0001c0002t0010 | a0001c0001t0013g0230 a0001c0001t0017g0136 a0001c0002t0010g0246 others(1): Show |
4 | 370 | 0.0108 | -1 | c.-15 others(11): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
SPSB1_chr1_9287894_9374532 | 9306930 | CT | C | intron_variant | MODIFIER | HG00408.hp2 HG00733.hp1 HG00738.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0031 others(48): Show |
51 | 370 | 0.1378 | -1 | c.-15 others(11): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9311160 | GT | G | intron_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG00639.hp2 others(148): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(44): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 others(147): Show |
151 | 370 | 0.4081 | -1 | c.-15 others(11): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9317837 | AT | A | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG02129.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0038a0001c0002t0001a0001c0002t0005others(4): Show | a0001c0001t0038g0199 a0001c0002t0001g0168 a0001c0002t0005g0016 others(5): Show |
8 | 370 | 0.0216 | -1 | c.-15 others(11): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9320888 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00597.hp1 others(175): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(56): Show | a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0036 others(174): Show |
178 | 370 | 0.4811 | -1 | c.-15 others(11): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9325225 | AC | A | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp1 HG01884.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0001g0031 a0001c0001t0001g0157 a0001c0001t0004g0259 others(13): Show |
16 | 370 | 0.0432 | -1 | c.-14 others(11): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9329704 | CA | C | intron_variant | MODIFIER | HG01167.hp1 HG01517.hp1 HG01891.hp1 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0171 a0001c0001t0002g0243 a0001c0001t0003g0097 others(14): Show |
17 | 370 | 0.0460 | -1 | c.-14 others(11): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9330557 | TG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(306): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(70): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 others(303): Show |
309 | 370 | 0.8351 | -1 | c.-14 others(11): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9330704 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(155): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0060 a0001c0001t0001g0077 a0001c0001t0001g0091 others(153): Show |
158 | 370 | 0.4270 | -1 | c.-14 others(11): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9330935 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(109): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0060 a0001c0001t0001g0077 a0001c0001t0001g0091 others(107): Show |
112 | 370 | 0.3027 | -1 | c.-14 others(11): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9331321 | GT | G | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp2 HG01109.hp2 others(14): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(11): Show | a0001c0001t0001g0022 a0001c0001t0006g0123 a0001c0001t0006g0127 others(14): Show |
17 | 370 | 0.0460 | -1 | c.-14 others(11): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9333328 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00609.hp1 others(135): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(42): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 others(134): Show |
138 | 370 | 0.3730 | -1 | c.-14 others(11): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9335156 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01106.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0156 others(10): Show |
13 | 370 | 0.0351 | -1 | c.-14 others(11): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9335501 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00609.hp1 others(144): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(44): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0031 others(143): Show |
147 | 370 | 0.3973 | -1 | c.-14 others(11): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9335897 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(241): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0028 others(240): Show |
244 | 370 | 0.6595 | -1 | c.-14 others(11): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9343362 | GA | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(92): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0057 a0001c0001t0001g0107 a0001c0001t0001g0144 others(91): Show |
95 | 370 | 0.2568 | -1 | c.-14 others(11): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
SPSB1_chr1_9287894_9374532 | 9347418 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp1 others(117): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0171 a0001c0001t0002g0243 a0001c0001t0002g0284 others(116): Show |
120 | 370 | 0.3243 | -1 | c.-14 others(10): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9347943 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(200): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0036 others(198): Show |
203 | 370 | 0.5487 | -1 | c.-14 others(10): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9354800 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(89): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0014a0001c0002t0001a0001c0002t0002others(19): Show | a0001c0001t0014g0214 a0001c0002t0001g0026 a0001c0002t0001g0052 others(88): Show |
92 | 370 | 0.2487 | -1 | c.-14 others(9): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9356001 | TG | T | frameshift_variant | HIGH | NA19063.hp1 | a0006 | a0006c0011 | a0006c0011t0006 | a0006c0011t0006g0086 | 1 | 370 | 0.0027 | -1 | c.112 others(4): Show |
p.Asp others(4): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 2/3 | 439/3106 | 112/822 | 38/273 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
SPSB1_chr1_9287894_9374532 | 9356043 | AG | A | frameshift_variant | HIGH | NA19063.hp1 | a0006 | a0006c0011 | a0006c0011t0006 | a0006c0011t0006g0086 | 1 | 370 | 0.0027 | -1 | c.153 others(4): Show |
p.Gln others(4): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 2/3 | 480/3106 | 153/822 | 51/273 | chr1 | TogoVar | |||
SPSB1_chr1_9287894_9374532 | 9356373 | AC | A | frameshift_variant | HIGH | NA18968.hp1 | a0004 | a0004c0008 | a0004c0008t0010 | a0004c0008t0010g0280 | 1 | 370 | 0.0027 | -1 | c.485 others(4): Show |
p.Pro others(5): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 2/3 | 812/3106 | 485/822 | 162/273 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
SPSB1_chr1_9287894_9374532 | 9356490 | CT | C | frameshift_variant | HIGH | NA19063.hp1 | a0006 | a0006c0011 | a0006c0011t0006 | a0006c0011t0006g0086 | 1 | 370 | 0.0027 | -1 | c.603 others(4): Show |
p.Arg others(5): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 2/3 | 930/3106 | 603/822 | 201/273 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
SPSB1_chr1_9287894_9374532 | 9359705 | GA | G | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02602.hp1 others(6): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0001c0001t0011a0001c0001t0034others(3): Show | a0001c0001t0001g0033 a0001c0001t0011g0224 a0001c0001t0011g0228 others(6): Show |
9 | 370 | 0.0243 | -1 | c.694 others(9): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPSB1_chr1_9287894_9374532 | 9369205 | GT | G | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(31): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0005a0001c0001t0017a0001c0001t0022others(8): Show | a0001c0001t0005g0008 a0001c0001t0005g0009 a0001c0001t0005g0010 others(31): Show |
34 | 370 | 0.0919 | -1 | c.*16 others(6): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 3/3 | 1640 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SPSB1_chr1_9287894_9374532 | 9370341 | AG | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(158): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0002g0243 a0001c0001t0002g0255 a0001c0001t0002g0284 others(156): Show |
161 | 370 | 0.4351 | -1 | c.*27 others(6): Show |
SPSB1 | ENSG00000171621.14 | transcript | ENST00000328089.11 | protein_coding | 810 | chr1 | TogoVar | |||||||
SPSB2_chr12_6865935_6878303 | 6868412 | AG | A | downstream_gene_variant | MODIFIER | HG02809.hp1 HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0011 | 3 | 398 | 0.0075 | -1 | c.*27 others(6): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 2522 | chr12 | TogoVar |