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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2296): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp1 NA18989.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0016 | a0001c0001t0001g0005 a0001c0001t0001g0121 a0001c0001t0010g0089 others(1): Show |
4 | 92 | 0.0435 | 2303 | c.-48 others(2314): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2296): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 89 | 0.0112 | 2303 | c.-48 others(2314): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
TYW1_chr7_66991833_67244514 | 67078263 | T | TTTTTTGT others(2296): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0283 | 1 | 359 | 0.0028 | 2303 | c.127 others(2322): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2297): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0203 | 1 | 76 | 0.0132 | 2304 | c.955 others(2321): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882003 | T | TGGGGGGA others(2297): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 211 | 0.0047 | 2304 | c.303 others(2323): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2297): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0011 | 1 | 88 | 0.0114 | 2304 | c.*92 others(2315): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2297): Show |
downstream_gene_variant | MODIFIER | NA18992.hp2 NA19067.hp2 |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0006c0012t0003 | a0001c0001t0001g0004 a0006c0012t0003g0107 |
2 | 89 | 0.0225 | 2304 | c.*92 others(2315): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG00609.hp2 | a0031 | a0031c0063 | a0031c0063t0001 | a0031c0063t0001g0200 | 1 | 118 | 0.0085 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 | 1 | 118 | 0.0085 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG00639.hp2 HG03239.hp2 |
a0001a0032 | a0001c0003a0032c0077 | a0001c0003t0001a0032c0077t0001 | a0001c0003t0001g0031 a0032c0077t0001g0095 |
2 | 119 | 0.0168 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 118 | 0.0085 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(39): Show |
a0001a0005a0009others(8): Show | a0001c0001a0001c0003a0001c0007others(20): Show | a0001c0001t0001a0001c0001t0016a0001c0003t0001others(21): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(38): Show |
42 | 159 | 0.2642 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | NA18946.hp1 NA18985.hp1 |
a0024a0111 | a0024c0088a0111c0066 | a0024c0088t0011a0111c0066t0001 | a0024c0088t0011g0037 a0111c0066t0001g0061 |
2 | 119 | 0.0168 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG01192.hp1 | a0005 | a0005c0014 | a0005c0014t0001 | a0005c0014t0001g0097 | 1 | 118 | 0.0085 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG02083.hp2 | a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0197 | 1 | 118 | 0.0085 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | NA19081.hp2 | a0001 | a0001c0078 | a0001c0078t0001 | a0001c0078t0001g0053 | 1 | 118 | 0.0085 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG03239.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0050 | 1 | 118 | 0.0085 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | NA18980.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0052 | 1 | 118 | 0.0085 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG00438.hp1 HG00558.hp2 HG00609.hp1 others(33): Show |
a0001a0005a0007others(11): Show | a0001c0003a0001c0018a0001c0021others(23): Show | a0001c0003t0001a0001c0018t0001a0001c0021t0001others(23): Show | a0001c0003t0001g0025 a0001c0003t0001g0049 a0001c0003t0001g0083 others(33): Show |
36 | 153 | 0.2353 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGTTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG02132.hp1 HG02155.hp1 |
a0001 | a0001c0001a0001c0052 | a0001c0001t0001a0001c0052t0001 | a0001c0001t0001g0114 a0001c0052t0001g0113 |
2 | 119 | 0.0168 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG02015.hp1 HG02145.hp1 NA18950.hp2 others(1): Show |
a0001a0017 | a0001c0003a0001c0076a0017c0015 | a0001c0003t0001a0001c0076t0001a0017c0015t0001 | a0001c0003t0001g0105 a0001c0076t0001g0110 a0017c0015t0001g0065 others(1): Show |
4 | 132 | 0.0303 | 2304 | c.381 others(2313): Show |
p.Ser others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 129 | 0.0078 | 2304 | c.381 others(2313): Show |
p.Ser others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | |||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2297): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0011 | a0011c0017 | a0011c0017t0002 | a0011c0017t0002g0190 | 1 | 2 | 0.5000 | 2304 | c.801 others(2321): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432147 | C | CAGGGTGG others(2297): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0020 | 1 | 184 | 0.0054 | 2304 | c.101 others(2321): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(2297): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0007 | a0007c0024 | a0007c0024t0002 | a0007c0024t0002g0073 | 1 | 112 | 0.0089 | 2304 | c.719 others(2323): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(2297): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG03453.hp2 |
a0001a0007 | a0001c0002a0007c0016a0007c0017 | a0001c0002t0001a0007c0016t0001a0007c0017t0001 | a0001c0002t0001g0041 a0007c0016t0001g0005 a0007c0017t0001g0125 |
3 | 114 | 0.0263 | 2304 | c.719 others(2323): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SNTG2_chr2_945849_1372613 | 1223139 | T | TCTCCCTG others(2297): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 112 | 0.0089 | 2304 | c.719 others(2323): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2297): Show |
upstream_gene_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 89 | 0.0112 | 2304 | c.-48 others(2315): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2297): Show |
upstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 89 | 0.0112 | 2304 | c.-48 others(2315): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2298): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 10 | 0.1000 | 2305 | c.*40 others(2316): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2298): Show |
downstream_gene_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 88 | 0.0114 | 2305 | c.*92 others(2316): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2298): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 61 | 0.0164 | 2305 | c.-11 others(2316): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2298): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0140 | 1 | 4 | 0.2500 | 2305 | c.515 others(2322): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2298): Show |
frameshift_variant others(1): Show |
HIGH | NA18988.hp1 | a0113 | a0113c0080 | a0113c0080t0001 | a0113c0080t0001g0103 | 1 | 118 | 0.0085 | 2305 | c.390 others(2314): Show |
p.Ser others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2298): Show |
frameshift_variant others(1): Show |
HIGH | NA19055.hp2 | a0116 | a0116c0039 | a0116c0039t0001 | a0116c0039t0001g0112 | 1 | 118 | 0.0085 | 2305 | c.390 others(2314): Show |
p.Ser others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2298): Show |
frameshift_variant others(1): Show |
HIGH | HG00438.hp1 | a0001 | a0001c0075 | a0001c0075t0001 | a0001c0075t0001g0109 | 1 | 129 | 0.0078 | 2305 | c.381 others(2314): Show |
p.Val others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2298): Show |
frameshift_variant others(1): Show |
HIGH | NA18988.hp1 | a0113 | a0113c0080 | a0113c0080t0001 | a0113c0080t0001g0103 | 1 | 129 | 0.0078 | 2305 | c.381 others(2314): Show |
p.Val others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | |||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(2298): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 65 | 0.0154 | 2305 | c.4-1 others(2318): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2298): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0031 | a0031c0035 | a0031c0035t0001 | a0031c0035t0001g0081 | 1 | 2 | 0.5000 | 2305 | c.801 others(2322): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2298): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0073 | a0073c0111 | a0073c0111t0009 | a0073c0111t0009g0016 | 1 | 2 | 0.5000 | 2305 | c.801 others(2322): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PTPN6_chr12_6946356_6966316 | 6949994 | C | CTGGTCTC others(2298): Show |
upstream_gene_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0027 | 1 | 8 | 0.1250 | 2305 | c.-15 others(2316): Show |
PTPN6 | ENSG00000111679.17 | transcript | ENST00000318974.14 | protein_coding | 1361 | chr12 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(2298): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02559.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0239 a0001c0002t0003g0306 |
2 | 3 | 0.6667 | 2305 | c.438 others(2322): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
RSPH1_chr21_42467486_42501224 | 42477029 | C | CCCCTCCA others(2298): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0016 | a0001c0016t0004 | a0001c0016t0004g0184 | 1 | 370 | 0.0027 | 2305 | c.727 others(2320): Show |
RSPH1 | ENSG00000160188.10 | transcript | ENST00000291536.8 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
SPAAR_chr9_35904490_35916686 | 35914283 | A | AGTGTGTG others(2298): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 226 | 0.0088 | 2305 | c.*35 others(2316): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2598 | chr9 | TogoVar | |||||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(2298): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0191 | 1 | 179 | 0.0056 | 2305 | c.600 others(2324): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TECTA_chr11_121096243_121196490 | 121186127 | T | TAATGAAT others(2298): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0281 | 1 | 179 | 0.0056 | 2305 | c.600 others(2324): Show |
TECTA | ENSG00000109927.11 | transcript | ENST00000392793.6 | protein_coding | 20/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2298): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0094 | 1 | 89 | 0.0112 | 2305 | c.-48 others(2316): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1290000 | T | TCCCGTGT others(2299): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 257 | 0.0039 | 2306 | c.*35 others(2317): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2390 | chr1 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2299): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0116 | 1 | 76 | 0.0132 | 2306 | c.955 others(2323): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2299): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 76 | 0.0132 | 2306 | c.955 others(2323): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |