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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CASQ2_chr1_115695021_115773714 | 115743193 | TTTTGTTT others(5): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(200): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0002g0153a0001c0001t0002g0174a0001c0001t0004g0192others(198): Show | 203 | 364 | 0.5577 | -12 | c.319 others(29): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115743197 | GTTTATTT others(5): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp1 HG01891.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004 | a0001c0001t0008a0002c0003t0010a0002c0004t0016 | a0001c0001t0008g0034a0002c0003t0010g0004a0002c0003t0010g0006others(3): Show | 6 | 364 | 0.0165 | -12 | c.319 others(29): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
CASQ2_chr1_115695021_115773714 | 115773214 | CTGTGTGT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG02148.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0002a0001c0001t0005a0002c0003t0003others(3): Show | a0001c0001t0002g0064a0001c0001t0005g0145a0002c0003t0003g0262others(6): Show | 9 | 364 | 0.0247 | -12 | c.-46 others(23): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 4501 | chr1 | TogoVar | ||||||
CASR_chr3_122178668_122296629 | 122272091 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 314 | 0.0032 | -12 | c.137 others(31): Show |
CASR | ENSG00000036828.17 | transcript | ENST00000639785.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CASTOR2_chr7_74959705_75036528 | 74960677 | AAAAAATA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02559.hp1 HG02809.hp2 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0025a0001c0001t0083 | a0001c0001t0016g0073a0001c0001t0016g0084a0001c0001t0025g0094others(2): Show | 5 | 228 | 0.0219 | -12 | c.-43 others(23): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 4027 | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74960679 | AAAATATA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01981.hp2 HG02055.hp1 HG02132.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017a0001c0001t0027others(2): Show | a0001c0001t0006g0182a0001c0001t0017g0082a0001c0001t0027g0113others(2): Show | 5 | 228 | 0.0219 | -12 | c.-43 others(23): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 4025 | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74960681 | AATATATA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01168.hp1 HG02074.hp1 HG02630.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(3): Show | a0001c0001t0001g0133a0001c0001t0001g0162a0001c0001t0001g0180others(5): Show | 8 | 228 | 0.0351 | -12 | c.-43 others(23): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 4023 | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74960702 | ATATATAT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(80): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0081a0001c0001t0001g0083others(80): Show | 83 | 228 | 0.3640 | -12 | c.-42 others(23): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 4002 | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74960704 | ATATATAT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01993.hp2 NA18974.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0160a0001c0001t0007g0130 | 2 | 228 | 0.0088 | -12 | c.-42 others(23): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 4000 | chr7 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74976531 | TCTCCTCC others(5): Show |
T | intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0127 | 1 | 228 | 0.0044 | -12 | c.113 others(31): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CAST_chr5_96657376_96779683 | 96680209 | CGTGGTCG others(5): Show |
C | intron_variant | MODIFIER | HG02738.hp1 HG03831.hp1 |
a0007 | a0007c0015 | a0007c0015t0012 | a0007c0015t0012g0137a0007c0015t0012g0138 | 2 | 358 | 0.0056 | -12 | c.138 others(29): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 2/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CAST_chr5_96657376_96779683 | 96731426 | TCTACCCA others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01071.hp1 others(15): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0004a0001c0001t0006a0001c0001t0016others(3): Show | a0001c0001t0004g0014a0001c0001t0004g0132a0001c0001t0004g0133others(13): Show | 18 | 358 | 0.0503 | -12 | c.630 others(27): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 9/31 | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96752539 | AAACCTCA others(5): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp1 HG01106.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0011others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0011t0002others(2): Show | a0001c0001t0002g0045a0001c0001t0002g0057a0001c0001t0002g0060others(7): Show | 10 | 358 | 0.0279 | -12 | c.152 others(31): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CASZ1_chr1_10631604_10801646 | 10694584 | CCCGCCGC others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0138 | 1 | 236 | 0.0042 | -12 | c.-23 others(27): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 3/20 | chr1 | TogoVar | ||||||
CASZ1_chr1_10631604_10801646 | 10783871 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 236 | 0.0042 | -12 | c.-23 others(33): Show |
CASZ1 | ENSG00000130940.15 | transcript | ENST00000377022.8 | protein_coding | 1/20 | chr1 | TogoVar | ||||||
CATSPER1_chr11_66011752_66031479 | 66024271 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02258.hp2 others(20): Show |
a0002a0009a0019 | a0002c0005a0002c0007a0002c0019others(3): Show | a0002c0005t0003a0002c0007t0003a0002c0019t0003others(3): Show | a0002c0005t0003g0039a0002c0005t0003g0089a0002c0005t0003g0090others(8): Show | 23 | 408 | 0.0564 | -12 | c.121 others(29): Show |
CATSPER1 | ENSG00000175294.6 | transcript | ENST00000312106.6 | protein_coding | 1/11 | chr11 | TogoVar | ||||||
CATSPER3_chr5_134962907_135016696 | 134964765 | TTTGAAAG others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 380 | 0.0026 | -12 | c.-32 others(23): Show |
CATSPER3 | ENSG00000152705.8 | transcript | ENST00000282611.8 | protein_coding | 3141 | chr5 | TogoVar | ||||||
CATSPER3_chr5_134962907_135016696 | 135000809 | CTTTTCTT others(5): Show |
C | intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 380 | 0.0026 | -12 | c.492 others(29): Show |
CATSPER3 | ENSG00000152705.8 | transcript | ENST00000282611.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CATSPER4_chr1_26185602_26207964 | 26207777 | AAAAGAAA others(5): Show |
A | downstream_gene_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 398 | 0.0025 | -12 | c.*52 others(23): Show |
CATSPER4 | ENSG00000188782.9 | transcript | ENST00000456354.7 | protein_coding | 4814 | chr1 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91586546 | GGAGAGAG others(5): Show |
G | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0187a0001c0002t0002g0189 | 2 | 271 | 0.0074 | -12 | c.313 others(29): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 26/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91595290 | GTTTATTT others(5): Show |
G | intron_variant | MODIFIER | NA20129.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0159 | 1 | 271 | 0.0037 | -12 | c.271 others(31): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 22/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91612055 | TCTTTCTT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG01168.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0028a0001c0001t0001g0034others(19): Show | 22 | 271 | 0.0812 | -12 | c.240 others(31): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 20/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91619861 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01361.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0059a0001c0001t0001g0104others(11): Show | 14 | 271 | 0.0517 | -12 | c.226 others(31): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 19/26 | chr14 | TogoVar | ||||||
CATSPERB_chr14_91575698_91737086 | 91652670 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00733.hp1 others(76): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0016others(76): Show | 79 | 271 | 0.2915 | -12 | c.143 others(31): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 15/26 | chr14 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5715643 | TAAAAAAA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp2 HG02647.hp1 |
a0001a0003 | a0001c0001a0003c0043 | a0001c0001t0002a0003c0043t0001 | a0001c0001t0002g0226a0003c0043t0001g0233 | 2 | 336 | 0.0060 | -12 | c.-50 others(23): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4993 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5716253 | AATATACA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0045 | a0001c0045t0001 | a0001c0045t0001g0151 | 1 | 336 | 0.0030 | -12 | c.-44 others(23): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4383 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5716259 | CATATATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG02622.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0062others(14): Show | 17 | 336 | 0.0506 | -12 | c.-44 others(23): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4377 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5728369 | AAAAAAGA others(5): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02630.hp1 |
a0033a0034 | a0033c0047a0034c0046 | a0033c0047t0001a0034c0046t0001 | a0033c0047t0001g0004a0034c0046t0001g0005 | 2 | 336 | 0.0060 | -12 | c.203 others(29): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5733349 | TTCCTTCC others(5): Show |
T | intron_variant | MODIFIER | HG00609.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0269 | 1 | 336 | 0.0030 | -12 | c.277 others(27): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5751197 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02965.hp2 |
a0006a0030 | a0006c0007a0030c0038 | a0006c0007t0002a0030c0038t0002 | a0006c0007t0002g0031a0030c0038t0002g0317 | 2 | 336 | 0.0060 | -12 | c.988 others(27): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5751531 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG02055.hp1 others(15): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0077a0001c0001t0001g0093a0001c0001t0001g0099others(15): Show | 18 | 336 | 0.0536 | -12 | c.988 others(25): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5762048 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02922.hp1 HG03139.hp1 |
a0014a0017 | a0014c0017a0017c0014 | a0014c0017t0002a0017c0014t0002 | a0014c0017t0002g0223a0017c0014t0002g0011a0017c0014t0002g0013 | 3 | 336 | 0.0089 | -12 | c.142 others(31): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5765405 | TATTCATT others(5): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00741.hp1 others(50): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(10): Show | a0001c0001t0001g0006a0001c0001t0001g0021a0001c0001t0001g0038others(50): Show | 53 | 336 | 0.1577 | -12 | c.150 others(29): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5772214 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(36): Show |
a0004a0019a0024others(1): Show | a0004c0003a0004c0042a0004c0044others(3): Show | a0004c0003t0001a0004c0003t0003a0004c0042t0001others(4): Show | a0004c0003t0001g0035a0004c0003t0001g0042a0004c0003t0001g0048others(36): Show | 39 | 336 | 0.1161 | -12 | c.176 others(29): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERD_chr19_5715637_5783734 | 5779062 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0184 | 1 | 336 | 0.0030 | -12 | c.*38 others(21): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 329 | chr19 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244510835 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02257.hp2 others(9): Show |
a0001a0002a0004others(1): Show | a0001c0003a0002c0021a0004c0023others(1): Show | a0001c0003t0001a0001c0003t0002a0002c0021t0001others(2): Show | a0001c0003t0001g0031a0001c0003t0001g0045a0001c0003t0001g0087others(9): Show | 12 | 206 | 0.0583 | -12 | c.430 others(29): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244514828 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03471.hp1 |
a0001a0006 | a0001c0002a0006c0010 | a0001c0002t0001a0006c0010t0001 | a0001c0002t0001g0088a0006c0010t0001g0137a0006c0010t0001g0138 | 3 | 206 | 0.0146 | -12 | c.430 others(29): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244536881 | TGACTTTT others(5): Show |
T | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0186 | 1 | 206 | 0.0049 | -12 | c.537 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244544072 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(199): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0020others(199): Show | 202 | 206 | 0.9806 | -12 | c.537 others(29): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244557532 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG02818.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0005a0001c0001t0002g0134a0001c0001t0003g0181others(3): Show | 6 | 206 | 0.0291 | -12 | c.103 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244566652 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG02258.hp1 HG02647.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0016a0004c0009 | a0001c0001t0002a0001c0001t0003a0001c0016t0001others(1): Show | a0001c0001t0002g0002a0001c0001t0002g0024a0001c0001t0003g0156others(3): Show | 6 | 206 | 0.0291 | -12 | c.150 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244582909 | TGATATAT others(5): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 206 | 0.0049 | -12 | c.201 others(29): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 12/21 | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244582910 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025a0001c0001t0002g0051 | 2 | 206 | 0.0097 | -12 | c.201 others(29): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244614326 | TGCCACAG others(5): Show |
T | intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 206 | 0.0049 | -12 | c.249 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244621037 | AAAATATA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(120): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0020others(120): Show | 123 | 206 | 0.5971 | -12 | c.264 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244621062 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02647.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0031a0001c0003t0001g0087a0001c0003t0001g0089others(1): Show | 4 | 206 | 0.0194 | -12 | c.264 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | chr1 | TogoVar | ||||||
CATSPERE_chr1_244456273_244645504 | 244621197 | ATATAGAT others(5): Show |
A | intron_variant | MODIFIER | HG01496.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067a0001c0001t0001g0093 | 2 | 206 | 0.0097 | -12 | c.264 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244621315 | AATATATA others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(103): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(17): Show | a0001c0001t0001g0005a0001c0001t0001g0012a0001c0001t0001g0020others(103): Show | 106 | 206 | 0.5146 | -12 | c.264 others(31): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116523083 | AGAAGGAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp2 others(62): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0017a0001c0001t0001g0029a0001c0001t0001g0036others(61): Show | 65 | 342 | 0.1901 | -12 | c.-19 others(23): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 1952 | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534362 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0066a0001c0001t0006g0112 | 2 | 342 | 0.0059 | -12 | c.195 others(29): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |