| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| GALNTL6_chr4_171808404_173046559 | 172524240 | C | CATTTATT others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0017a0001c0001t0002g0026a0001c0001t0002g0032 | 3 | 40 | 0.0750 | 8 | c.553 others(29): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALNTL6_chr4_171808404_173046559 | 172552837 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02451.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(1): Show | a0001c0001t0001g0023a0001c0001t0001g0028a0001c0001t0002g0022others(3): Show | 6 | 40 | 0.1500 | 8 | c.553 others(29): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALNTL6_chr4_171808404_173046559 | 172592670 | G | GTCTATCT others(1): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02145.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0015a0001c0001t0001g0028a0001c0001t0001g0040others(6): Show | 9 | 40 | 0.2250 | 8 | c.554 others(29): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALNTL6_chr4_171808404_173046559 | 172609625 | C | CTCTCTGT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0029others(6): Show | 9 | 40 | 0.2250 | 8 | c.554 others(29): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALNTL6_chr4_171808404_173046559 | 172658149 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02717.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0002g0003others(8): Show | 11 | 40 | 0.2750 | 8 | c.554 others(29): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALNTL6_chr4_171808404_173046559 | 172713222 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02630.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0030a0001c0001t0001g0040 | 3 | 40 | 0.0750 | 8 | c.554 others(27): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALNTL6_chr4_171808404_173046559 | 172755237 | T | TATAGATA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02451.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0017a0001c0001t0001g0023others(7): Show | 10 | 40 | 0.2500 | 8 | c.554 others(27): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALNTL6_chr4_171808404_173046559 | 172761662 | G | GCTCTCTC others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0014 | 2 | 40 | 0.0500 | 8 | c.554 others(27): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALNTL6_chr4_171808404_173046559 | 172761669 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02976.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0030a0001c0004t0002g0038 | 2 | 40 | 0.0500 | 8 | c.554 others(27): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALNTL6_chr4_171808404_173046559 | 172770265 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02630.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0015a0001c0001t0001g0034others(9): Show | 12 | 40 | 0.3000 | 8 | c.554 others(27): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALNTL6_chr4_171808404_173046559 | 172812009 | A | AATGGATG others(1): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012a0001c0001t0002g0032 | 2 | 40 | 0.0500 | 8 | c.740 others(25): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALNTL6_chr4_171808404_173046559 | 172863672 | G | GTGAGACT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02976.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0005 | a0001c0001t0007g0006a0001c0003t0005g0004 | 2 | 40 | 0.0500 | 8 | c.924 others(27): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALNTL6_chr4_171808404_173046559 | 172871611 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02976.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0005 | a0001c0001t0007g0006a0001c0003t0005g0004 | 2 | 40 | 0.0500 | 8 | c.924 others(27): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALNTL6_chr4_171808404_173046559 | 172871759 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02015.hp1 HG02015.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0023others(19): Show | 22 | 40 | 0.5500 | 8 | c.924 others(27): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALNTL6_chr4_171808404_173046559 | 172875732 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0002 | a0001c0001t0012g0027a0001c0002t0002g0007 | 2 | 40 | 0.0500 | 8 | c.924 others(25): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALNTL6_chr4_171808404_173046559 | 172887536 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG03130.hp2 NA20752.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0003t0005 | a0001c0001t0001g0028a0001c0001t0006g0020a0001c0003t0005g0004 | 3 | 40 | 0.0750 | 8 | c.104 others(27): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALNTL6_chr4_171808404_173046559 | 173022189 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02145.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0003a0001c0003t0001 | a0001c0001t0001g0033a0001c0002t0003g0001a0001c0003t0001g0005 | 3 | 40 | 0.0750 | 8 | c.163 others(25): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| GALP_chr19_56171008_56190775 | 56174061 | T | TGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02280.hp2 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0003a0001c0001t0009a0001c0002t0003others(3): Show | a0001c0001t0003g0021a0001c0001t0003g0133a0001c0001t0003g0134others(12): Show | 16 | 444 | 0.0360 | 8 | c.-20 others(19): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 1946 | chr19 | TogoVar | ||||||
| GALP_chr19_56171008_56190775 | 56178521 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG02145.hp1 others(8): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0006 | a0001c0001t0001a0001c0001t0003a0002c0003t0001others(1): Show | a0001c0001t0001g0353a0001c0001t0003g0304a0002c0003t0001g0040others(6): Show | 11 | 444 | 0.0248 | 8 | c.87+ others(23): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| GALP_chr19_56171008_56190775 | 56188781 | A | AAAATAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00733.hp1 HG01081.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0001g0342a0001c0001t0003g0034a0001c0001t0003g0131others(22): Show | 27 | 444 | 0.0608 | 8 | c.*35 others(19): Show |
GALP | ENSG00000197487.9 | transcript | ENST00000357330.7 | protein_coding | 3007 | chr19 | TogoVar | ||||||
| GALR1_chr18_77244848_77282900 | 77282782 | T | TGAAAGAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00741.hp1 NA18964.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0114a0001c0001t0115a0001c0001t0149others(2): Show | a0001c0001t0114g0057a0001c0001t0115g0100a0001c0001t0149g0246others(2): Show | 5 | 366 | 0.0137 | 8 | c.*13 others(21): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 4883 | chr18 | TogoVar | ||||||
| GALR2_chr17_76069781_76082537 | 76070850 | G | GCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01081.hp1 others(21): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0006c0007t0001g0001 | 24 | 405 | 0.0593 | 8 | c.-40 others(19): Show |
GALR2 | ENSG00000182687.4 | transcript | ENST00000329003.4 | protein_coding | 3930 | chr17 | TogoVar | ||||||
| GALT_chr9_34641675_34656035 | 34644352 | T | TATATATA others(1): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG02004.hp2 NA18945.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0008 | 5 | 416 | 0.0120 | 8 | c.-23 others(19): Show |
GALT | ENSG00000213930.12 | transcript | ENST00000378842.8 | protein_coding | 2322 | chr9 | TogoVar | ||||||
| GALT_chr9_34641675_34656035 | 34650282 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01081.hp2 HG01975.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0019 | 20 | 416 | 0.0481 | 8 | c.106 others(23): Show |
GALT | ENSG00000213930.12 | transcript | ENST00000378842.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GANC_chr15_42268201_42358666 | 42268673 | C | CATAAATA others(1): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG03579.hp1 NA18906.hp1 others(2): Show |
a0003 | a0003c0008a0003c0013 | a0003c0008t0006a0003c0013t0006 | a0003c0008t0006g0133a0003c0008t0006g0134a0003c0008t0006g0137others(2): Show | 5 | 262 | 0.0191 | 8 | c.-58 others(19): Show |
GANC | ENSG00000214013.10 | transcript | ENST00000318010.13 | protein_coding | 4527 | chr15 | TogoVar | ||||||
| GAN_chr16_81309962_81395809 | 81319206 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 HG01106.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0022others(9): Show | a0001c0001t0001g0085a0001c0001t0014g0318a0001c0001t0022g0321others(11): Show | 14 | 384 | 0.0365 | 8 | c.167 others(25): Show |
GAN | ENSG00000261609.8 | transcript | ENST00000648994.2 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| GAN_chr16_81309962_81395809 | 81360068 | T | TAGATGGA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG01069.hp2 others(34): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0056a0001c0001t0001g0137a0001c0001t0002g0028others(33): Show | 37 | 384 | 0.0964 | 8 | c.973 others(25): Show |
GAN | ENSG00000261609.8 | transcript | ENST00000648994.2 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| GAN_chr16_81309962_81395809 | 81376465 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02055.hp2 HG02451.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(6): Show | a0001c0001t0002g0203a0001c0001t0003g0226a0001c0001t0007g0348others(6): Show | 9 | 384 | 0.0234 | 8 | c.150 others(25): Show |
GAN | ENSG00000261609.8 | transcript | ENST00000648994.2 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| GAP43_chr3_115618510_115726483 | 115618681 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG01934.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0065a0001c0001t0001g0072a0001c0001t0001g0152others(14): Show | 17 | 352 | 0.0483 | 8 | c.-50 others(19): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 4828 | chr3 | TogoVar | ||||||
| GAP43_chr3_115618510_115726483 | 115625206 | C | CATAAATA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01255.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0028a0001c0001t0001g0031a0001c0001t0001g0033others(41): Show | 44 | 352 | 0.1250 | 8 | c.30+ others(23): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GAP43_chr3_115618510_115726483 | 115641510 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02109.hp2 HG02280.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0079a0001c0001t0001g0091a0001c0001t0001g0092others(15): Show | 18 | 352 | 0.0511 | 8 | c.30+ others(25): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GAP43_chr3_115618510_115726483 | 115641543 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02622.hp2 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0058a0001c0001t0001g0332a0001c0001t0002g0320others(2): Show | 5 | 352 | 0.0142 | 8 | c.30+ others(25): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
| GAP43_chr3_115618510_115726483 | 115641543 | C | CACAGACA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01169.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0041a0001c0001t0001g0042a0001c0001t0001g0043others(25): Show | 28 | 352 | 0.0796 | 8 | c.30+ others(25): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 1/2 | chr3 | TogoVar | ||||||
| GAP43_chr3_115618510_115726483 | 115665989 | A | AGTTTGTG others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02622.hp2 HG03453.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0242a0001c0001t0001g0306a0001c0001t0002g0243others(3): Show | 6 | 352 | 0.0171 | 8 | c.31- others(25): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GAP43_chr3_115618510_115726483 | 115714873 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01361.hp1 HG02055.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0013 | a0001c0001t0005g0003a0001c0001t0005g0005a0001c0001t0005g0011others(15): Show | 18 | 352 | 0.0511 | 8 | c.629 others(25): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| GAPVD1_chr9_125256826_125372207 | 125283028 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00673.hp2 others(37): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0176a0001c0001t0001g0177a0001c0001t0001g0178others(37): Show | 40 | 340 | 0.1177 | 8 | c.-14 others(29): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GAPVD1_chr9_125256826_125372207 | 125293852 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | NA18959.hp2 NA18967.hp2 NA19079.hp1 others(1): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0028a0001c0013t0002 | a0001c0001t0002g0106a0001c0001t0002g0153a0001c0001t0028g0154others(1): Show | 4 | 340 | 0.0118 | 8 | c.-14 others(27): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GAPVD1_chr9_125256826_125372207 | 125300023 | G | GAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG02735.hp1 others(8): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(2): Show | a0001c0001t0001g0192a0001c0001t0001g0246a0001c0001t0001g0256others(8): Show | 11 | 340 | 0.0324 | 8 | c.185 others(23): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GAPVD1_chr9_125256826_125372207 | 125338929 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01515.hp1 HG01517.hp1 HG02135.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0030 | a0001c0001t0001g0297a0001c0001t0001g0299a0001c0001t0010g0216others(2): Show | 5 | 340 | 0.0147 | 8 | c.287 others(27): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 17/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GAPVD1_chr9_125256826_125372207 | 125355215 | G | GGGATTCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(224): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(35): Show | a0001c0001t0001g0017a0001c0001t0001g0045a0001c0001t0001g0176others(224): Show | 227 | 340 | 0.6677 | 8 | c.375 others(25): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 24/27 | chr9 | TogoVar | ||||||
| GAREM1_chr18_32258522_32475882 | 32286321 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01070.hp1 HG01071.hp2 others(3): Show |
a0001 | a0001c0003a0001c0004a0001c0020 | a0001c0003t0003a0001c0003t0025a0001c0004t0028others(1): Show | a0001c0003t0003g0101a0001c0003t0003g0147a0001c0003t0003g0155others(3): Show | 6 | 192 | 0.0313 | 8 | c.156 others(25): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 4/5 | chr18 | TogoVar | ||||||
| GAREM1_chr18_32258522_32475882 | 32363903 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02615.hp2 HG02647.hp1 others(7): Show |
a0001a0011 | a0001c0002a0001c0004a0001c0009others(1): Show | a0001c0002t0003a0001c0002t0007a0001c0002t0021others(4): Show | a0001c0002t0003g0061a0001c0002t0003g0062a0001c0002t0007g0043others(7): Show | 10 | 192 | 0.0521 | 8 | c.262 others(27): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
| GAREM1_chr18_32258522_32475882 | 32363973 | C | CAAATACA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02451.hp2 HG02615.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0002a0001c0003t0003a0001c0003t0012others(2): Show | a0001c0001t0002g0161a0001c0003t0003g0114a0001c0003t0003g0178others(8): Show | 11 | 192 | 0.0573 | 8 | c.262 others(27): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
| GAREM1_chr18_32258522_32475882 | 32363995 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG02572.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0006 | a0001c0001t0001a0001c0001t0013a0001c0002t0001others(1): Show | a0001c0001t0001g0123a0001c0001t0001g0131a0001c0001t0013g0175others(3): Show | 6 | 192 | 0.0313 | 8 | c.262 others(27): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
| GAREM1_chr18_32258522_32475882 | 32364022 | A | ATGTTTTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01346.hp2 HG01361.hp2 others(3): Show |
a0001a0005a0007others(1): Show | a0001c0004a0001c0008a0005c0014others(2): Show | a0001c0004t0001a0001c0008t0014a0005c0014t0005others(2): Show | a0001c0004t0001g0166a0001c0008t0014g0012a0005c0014t0005g0169others(3): Show | 6 | 192 | 0.0313 | 8 | c.262 others(27): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
| GAREM1_chr18_32258522_32475882 | 32378012 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01361.hp2 HG02257.hp2 HG02615.hp2 others(3): Show |
a0001a0010 | a0001c0004a0001c0024a0010c0034 | a0001c0004t0001a0001c0024t0017a0010c0034t0005 | a0001c0004t0001g0104a0001c0004t0001g0125a0001c0004t0001g0135others(3): Show | 6 | 192 | 0.0313 | 8 | c.262 others(27): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
| GAREM1_chr18_32258522_32475882 | 32446249 | T | TGTGTGCG others(1): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01978.hp2 HG02074.hp2 others(21): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(12): Show | a0001c0001t0001g0096a0001c0002t0001g0017a0001c0002t0001g0021others(21): Show | 24 | 192 | 0.1250 | 8 | c.121 others(27): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 1/5 | chr18 | TogoVar | ||||||
| GAREM1_chr18_32258522_32475882 | 32457224 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02572.hp2 HG02738.hp2 others(4): Show |
a0001 | a0001c0002a0001c0031 | a0001c0002t0001a0001c0002t0006a0001c0002t0016others(1): Show | a0001c0002t0001g0008a0001c0002t0001g0049a0001c0002t0001g0051others(4): Show | 7 | 192 | 0.0365 | 8 | c.121 others(27): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 1/5 | chr18 | TogoVar | ||||||
| GAREM1_chr18_32258522_32475882 | 32461112 | C | CCTCAAAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01167.hp2 others(25): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0026a0001c0002t0018others(14): Show | a0001c0001t0001g0076a0001c0001t0001g0077a0001c0001t0001g0082others(25): Show | 28 | 192 | 0.1458 | 8 | c.121 others(25): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 1/5 | chr18 | TogoVar | ||||||
| GAREM2_chr2_26168088_26194663 | 26176309 | T | TTCCCCTC others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG01433.hp2 others(32): Show |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(1): Show | a0001c0001t0001g0004a0001c0001t0001g0013a0001c0001t0001g0014others(14): Show | 35 | 306 | 0.1144 | 8 | c.113 others(21): Show |
GAREM2 | ENSG00000157833.13 | transcript | ENST00000401533.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |