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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NCOA7_chr6_125785960_125937034 | 125917196 | T | TAGAATCT others(3393): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0268 | 1 | 270 | 0.0037 | 3400 | c.224 others(3419): Show |
NCOA7 | ENSG00000111912.20 | transcript | ENST00000392477.7 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PIP5K1C_chr19_3625183_3705468 | 3649038 | G | GGGGAGTT others(3393): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0247 | 1 | 332 | 0.0030 | 3400 | c.112 others(3417): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649063 | A | ATGCCCAC others(3393): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0236 | 1 | 332 | 0.0030 | 3400 | c.112 others(3417): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649113 | A | ATGCCCAC others(3393): Show |
intron_variant | MODIFIER | HG01109.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0249a0001c0001t0003g0307 | 2 | 332 | 0.0060 | 3400 | c.112 others(3417): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167965 | T | TCTTCTCC others(3393): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0185 | 1 | 312 | 0.0032 | 3400 | c.306 others(3419): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(3393): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 356 | 0.0028 | 3400 | c.114 others(3417): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3394): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0130 | 1 | 264 | 0.0038 | 3401 | c.400 others(3420): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132241883 | A | ACACACCC others(3394): Show |
intron_variant | MODIFIER | HG02083.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0058 | 1 | 183 | 0.0055 | 3401 | c.107 others(3420): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241927 | A | ACCACACA others(3394): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0025 | a0001c0025t0012 | a0001c0025t0012g0048 | 1 | 183 | 0.0055 | 3401 | c.107 others(3420): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322715 | A | ACGGAATA others(3394): Show |
upstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184 | 1 | 323 | 0.0031 | 3401 | c.-23 others(3412): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2254 | chr21 | TogoVar | ||||||
NCOA7_chr6_125785960_125937034 | 125917196 | T | TAGAATCT others(3394): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0259 | 1 | 270 | 0.0037 | 3401 | c.224 others(3420): Show |
NCOA7 | ENSG00000111912.20 | transcript | ENST00000392477.7 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PIEZO1_chr16_88710338_88790220 | 88731928 | C | CGGGGCGT others(3394): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0023 | a0023c0037 | a0023c0037t0012 | a0023c0037t0012g0269 | 1 | 282 | 0.0036 | 3401 | c.299 others(3416): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(3394): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0268 | 1 | 356 | 0.0028 | 3401 | c.114 others(3418): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(3394): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0278 | 1 | 356 | 0.0028 | 3401 | c.114 others(3418): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133111751 | A | AACCTGCC others(3395): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0197 | 1 | 368 | 0.0027 | 3402 | c.401 others(3419): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3395): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0006 | a0006c0025 | a0006c0025t0002 | a0006c0025t0002g0104 | 1 | 292 | 0.0034 | 3402 | c.228 others(3419): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3395): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0097 | 1 | 292 | 0.0034 | 3402 | c.228 others(3419): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3395): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0154 | 1 | 369 | 0.0027 | 3402 | c.-50 others(3413): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3395): Show |
upstream_gene_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0156 | 1 | 369 | 0.0027 | 3402 | c.-50 others(3413): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706339 | T | TAGATAGA others(3395): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0339 | 1 | 369 | 0.0027 | 3402 | c.-50 others(3413): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4861 | chr4 | TogoVar | ||||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3395): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 1 | 268 | 0.0037 | 3402 | c.139 others(3423): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3395): Show |
intron_variant | MODIFIER | HG02622.hp1 NA18522.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0007a0001c0002t0002g0081 | 2 | 268 | 0.0075 | 3402 | c.139 others(3423): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(3395): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0040 | 1 | 186 | 0.0054 | 3402 | c.723 others(3419): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | ||||||
NRG4_chr15_75935936_76017424 | 76007138 | T | TAGAAAAT others(3395): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0133 | 1 | 368 | 0.0027 | 3402 | c.104 others(3419): Show |
NRG4 | ENSG00000169752.17 | transcript | ENST00000394907.8 | protein_coding | 3/5 | chr15 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(3395): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0014 | a0014c0010 | a0014c0010t0007 | a0014c0010t0007g0028 | 1 | 282 | 0.0036 | 3402 | c.299 others(3417): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3395): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0210 | 1 | 216 | 0.0046 | 3402 | c.-51 others(3421): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(3395): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0218 | 1 | 376 | 0.0027 | 3402 | c.101 others(3419): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3395): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG02165.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0098others(1): Show | 6 | 310 | 0.0194 | 3402 | c.160 others(3421): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3395): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 2 | 310 | 0.0065 | 3402 | c.160 others(3421): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3395): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0181 | 1 | 310 | 0.0032 | 3402 | c.160 others(3421): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3395): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 310 | 0.0032 | 3402 | c.160 others(3421): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3395): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(96): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0015others(68): Show | 99 | 310 | 0.3194 | 3402 | c.160 others(3421): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3395): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 310 | 0.0032 | 3402 | c.160 others(3421): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3395): Show |
intron_variant | MODIFIER | HG01192.hp1 NA18954.hp2 NA18982.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0066a0001c0001t0001g0093a0001c0002t0001g0183others(1): Show | 4 | 310 | 0.0129 | 3402 | c.160 others(3421): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3395): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0199 | 1 | 310 | 0.0032 | 3402 | c.160 others(3421): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3395): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0180 | 1 | 310 | 0.0032 | 3402 | c.160 others(3421): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3395): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0022a0001c0001t0001g0060 | 7 | 310 | 0.0226 | 3402 | c.160 others(3421): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3395): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 310 | 0.0032 | 3402 | c.160 others(3421): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SLC22A2_chr6_160211755_160263821 | 160219096 | C | CAGCAACA others(3395): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(62): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0010others(45): Show | 65 | 310 | 0.2097 | 3402 | c.160 others(3421): Show |
SLC22A2 | ENSG00000112499.13 | transcript | ENST00000366953.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGCG others(3395): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 356 | 0.0028 | 3402 | c.114 others(3419): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323553 | T | TGTGTGTG others(3396): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 155 | 0.0065 | 3403 | c.-47 others(3414): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4758 | chrX | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3396): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0010 | 1 | 216 | 0.0046 | 3403 | c.-51 others(3422): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
UCKL1_chr20_63934829_63961416 | 63948602 | T | TGTGTGAA others(3396): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 356 | 0.0028 | 3403 | c.114 others(3420): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294622 | A | AGCCACAC others(3396): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 404 | 0.0025 | 3403 | c.340 others(3420): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3397): Show |
downstream_gene_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 424 | 0.0024 | 3404 | c.*49 others(3415): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar | ||||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3397): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 216 | 0.0046 | 3404 | c.-51 others(3423): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3397): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0011 | 1 | 216 | 0.0046 | 3404 | c.-51 others(3423): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PRRC2B_chr9_131389086_131505193 | 131414409 | G | GTATCTTT others(3397): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0095 | 1 | 216 | 0.0046 | 3404 | c.-51 others(3423): Show |
PRRC2B | ENSG00000288701.1 | transcript | ENST00000683519.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SLC38A10_chr17_81239811_81300307 | 81249456 | G | GAGGAGGG others(3397): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0015 | a0002c0015t0002 | a0002c0015t0002g0128 | 1 | 214 | 0.0047 | 3404 | c.206 others(3423): Show |
SLC38A10 | ENSG00000157637.13 | transcript | ENST00000374759.8 | protein_coding | 14/15 | chr17 | TogoVar | ||||||
AP2S1_chr19_46833167_46855846 | 46833482 | G | GAAAAGAA others(3398): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0293 | 1 | 424 | 0.0024 | 3405 | c.*49 others(3416): Show |
AP2S1 | ENSG00000042753.12 | transcript | ENST00000263270.11 | protein_coding | 4684 | chr19 | TogoVar |