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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(880): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0170 | 1 | 286 | 0.0035 | 887 | c.539 others(900): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(880): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 | 1 | 286 | 0.0035 | 887 | c.539 others(900): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(880): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 286 | 0.0035 | 887 | c.539 others(900): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | ||||||
B4GALNT3_chr12_454939_568509 | 511455 | T | TCTTCCAC others(880): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 394 | 0.0025 | 887 | c.170 others(906): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(880): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0185 | 1 | 326 | 0.0031 | 887 | c.327 others(904): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411091 | C | CACGGATC others(880): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 | 1 | 322 | 0.0031 | 887 | c.-21 others(898): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1945 | chr19 | TogoVar | ||||||
C2CD4C_chr19_400445_414147 | 411302 | T | TCACTGCT others(880): Show |
upstream_gene_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0120 | a0001c0001t0120g0097 | 1 | 322 | 0.0031 | 887 | c.-23 others(898): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2156 | chr19 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17432004 | T | TGACATTT others(880): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02615.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0015 | a0001c0001t0006g0311a0001c0001t0015g0262a0001c0001t0015g0288 | 3 | 324 | 0.0093 | 887 | c.127 others(906): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(880): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 320 | 0.0031 | 887 | c.937 others(902): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(880): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 | 1 | 320 | 0.0031 | 887 | c.937 others(902): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRIP3_chr6_43300472_43313826 | 43312604 | T | TAAAAATT others(880): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG00558.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(6): Show | 47 | 376 | 0.1250 | 887 | c.-38 others(898): Show |
CRIP3 | ENSG00000146215.14 | transcript | ENST00000372569.8 | protein_coding | 3779 | chr6 | TogoVar | ||||||
CRIP3_chr6_43300472_43313826 | 43312604 | T | TAAAAATT others(880): Show |
upstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 376 | 0.0027 | 887 | c.-38 others(898): Show |
CRIP3 | ENSG00000146215.14 | transcript | ENST00000372569.8 | protein_coding | 3779 | chr6 | TogoVar | ||||||
CRIP3_chr6_43300472_43313826 | 43312635 | A | ACGCGATG others(880): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 376 | 0.0027 | 887 | c.-38 others(898): Show |
CRIP3 | ENSG00000146215.14 | transcript | ENST00000372569.8 | protein_coding | 3810 | chr6 | TogoVar | ||||||
CTDP1_chr18_79674803_79759503 | 79691731 | G | GGGGGAGG others(880): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0143 | 1 | 378 | 0.0027 | 887 | c.315 others(904): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CTDP1_chr18_79674803_79759503 | 79691731 | G | GGGGGAGG others(880): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 378 | 0.0027 | 887 | c.315 others(904): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(880): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0018 | a0001c0001t0009g0179a0001c0001t0018g0183 | 2 | 230 | 0.0087 | 887 | c.724 others(906): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(880): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0126 | 1 | 230 | 0.0044 | 887 | c.724 others(906): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635168 | T | TCCCTTCC others(880): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 250 | 0.0040 | 887 | c.105 others(902): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
FOXP1_chr3_70949708_71588728 | 71435442 | A | AGGGACGG others(880): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0058 | 1 | 96 | 0.0104 | 887 | c.-16 others(908): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(880): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0255 | 1 | 268 | 0.0037 | 887 | c.-28 others(898): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | ||||||
GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(880): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0170 | 1 | 268 | 0.0037 | 887 | c.-28 others(898): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | ||||||
HOMEZ_chr14_23267422_23291132 | 23280710 | T | TTTTTATT others(880): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0002 | a0002c0002 | a0002c0002t0020 | a0002c0002t0020g0236 | 1 | 394 | 0.0025 | 887 | c.41- others(902): Show |
HOMEZ | ENSG00000290292.10 | transcript | ENST00000357460.7 | protein_coding | 1/1 | chr14 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(880): Show |
intron_variant | MODIFIER | NA18984.hp1 NA19007.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0271a0002c0002t0002g0290 | 2 | 312 | 0.0064 | 887 | c.-41 others(902): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(880): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0030 | 1 | 114 | 0.0088 | 887 | c.56- others(904): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
KIRREL3_chr11_126418358_127005770 | 126632686 | G | GCCACAAG others(880): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0063 | 1 | 114 | 0.0088 | 887 | c.56- others(904): Show |
KIRREL3 | ENSG00000149571.12 | transcript | ENST00000525144.7 | protein_coding | 1/16 | chr11 | TogoVar | ||||||
LINGO2_chr9_27932617_29218601 | 28189685 | G | GAGGGAGG others(880): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0026 | 1 | 62 | 0.0161 | 887 | c.-36 others(908): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 6/6 | chr9 | TogoVar | ||||||
LKAAEAR1_chr20_64078376_64089398 | 64088689 | T | TGCAGAGT others(880): Show |
upstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 102 | 0.0098 | 887 | c.-44 others(898): Show |
LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 4292 | chr20 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(880): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0202 | 1 | 318 | 0.0031 | 887 | c.-49 others(898): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(880): Show |
upstream_gene_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 318 | 0.0031 | 887 | c.-49 others(898): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(880): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 | a0004 | a0004c0014 | a0004c0014t0001 | a0004c0014t0001g0045 | 1 | 318 | 0.0031 | 887 | c.-49 others(898): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(880): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190 | 1 | 318 | 0.0031 | 887 | c.-49 others(898): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(880): Show |
upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 | 1 | 318 | 0.0031 | 887 | c.-49 others(898): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(880): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0123 | 1 | 272 | 0.0037 | 887 | c.250 others(902): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(880): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0232 | 1 | 272 | 0.0037 | 887 | c.250 others(902): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(880): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 272 | 0.0037 | 887 | c.250 others(902): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(880): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 272 | 0.0037 | 887 | c.250 others(902): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(880): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02809.hp1 HG02809.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072a0002c0002t0001g0073a0002c0002t0001g0257 | 3 | 422 | 0.0071 | 887 | c.195 others(904): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(880): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0074 | 1 | 422 | 0.0024 | 887 | c.195 others(904): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841443 | T | TCCCCCCG others(880): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 242 | 0.0041 | 887 | c.361 others(906): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841591 | A | AGCAGGTC others(880): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0236 | 1 | 242 | 0.0041 | 887 | c.361 others(906): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841603 | C | CTGACCAC others(880): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0208 | 1 | 242 | 0.0041 | 887 | c.361 others(906): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 841610 | A | AGCGCATC others(880): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 242 | 0.0041 | 887 | c.361 others(906): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 949090 | G | GGCCTCCT others(880): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 242 | 0.0041 | 887 | c.360 others(906): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(880): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 312 | 0.0032 | 887 | c.306 others(906): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RTEL1_chr20_63653312_63701245 | 63693448 | G | GCACCACC others(880): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 60 | 0.0167 | 887 | c.299 others(904): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
SBNO2_chr19_1102638_1179268 | 1164823 | G | GGAGGAGG others(880): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 203 | 0.0049 | 887 | c.-12 others(906): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(880): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0012 | a0012c0032 | a0012c0032t0004 | a0012c0032t0004g0278 | 1 | 314 | 0.0032 | 887 | c.916 others(904): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SCARA5_chr8_27864883_27997673 | 27918987 | G | GGAAGGAA others(880): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0003 | a0003c0014 | a0003c0014t0029 | a0003c0014t0029g0017 | 1 | 314 | 0.0032 | 887 | c.916 others(904): Show |
SCARA5 | ENSG00000168079.17 | transcript | ENST00000354914.8 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
SCHIP1_chr3_159268244_159902359 | 159680730 | A | AATATACA others(880): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 100 | 0.0100 | 887 | c.64- others(904): Show |
SCHIP1 | ENSG00000283154.3 | transcript | ENST00000638749.2 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SHANK1_chr19_50654255_50724802 | 50678994 | G | GATGGGAA others(880): Show |
intron_variant | MODIFIER | HG01884.hp1 NA18906.hp2 |
a0001 | a0001c0004a0001c0016 | a0001c0004t0076a0001c0016t0072 | a0001c0004t0076g0244a0001c0016t0072g0069 | 2 | 316 | 0.0063 | 887 | c.257 others(906): Show |
SHANK1 | ENSG00000161681.17 | transcript | ENST00000293441.6 | protein_coding | 21/23 | chr19 | TogoVar |