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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRIN2A_chr16_9748408_10187428 | 10040002 | C | CACACACA others(753): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01106.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0031a0001c0001t0001g0098a0001c0001t0001g0132others(26): Show | 29 | 168 | 0.1726 | 760 | c.415 others(781): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 2/12 | chr16 | TogoVar | ||||||
HNF4A_chr20_44350699_44437845 | 44404778 | T | TGTTTGTT others(753): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0178 | 1 | 322 | 0.0031 | 760 | c.50- others(775): Show |
HNF4A | ENSG00000101076.20 | transcript | ENST00000316673.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(753): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0061 | 1 | 370 | 0.0027 | 760 | c.-27 others(771): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53283749 | C | CCACTTAC others(753): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0147 | 1 | 296 | 0.0034 | 760 | c.368 others(777): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
LSS_chr21_46183446_46233774 | 46184511 | C | CCAACCCA others(753): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0062 | 1 | 358 | 0.0028 | 760 | c.*65 others(771): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3934 | chr21 | TogoVar | ||||||
LSS_chr21_46183446_46233774 | 46184564 | C | CCAACCCA others(753): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 HG04228.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0079a0002c0002t0002g0115 | 2 | 358 | 0.0056 | 760 | c.*65 others(771): Show |
LSS | ENSG00000160285.15 | transcript | ENST00000397728.8 | protein_coding | 3881 | chr21 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(753): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0057 | 1 | 278 | 0.0036 | 760 | c.115 others(777): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MMD2_chr7_4900998_4964187 | 4960054 | G | GTGGGAAG others(753): Show |
upstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0361 | 1 | 382 | 0.0026 | 760 | c.-10 others(771): Show |
MMD2 | ENSG00000136297.15 | transcript | ENST00000401401.8 | protein_coding | 868 | chr7 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189588 | A | ATATTTTA others(753): Show |
intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 | 1 | 330 | 0.0030 | 760 | c.-5+ others(775): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NDUFA3_chr19_54097855_54112568 | 54109797 | C | CTCCACCC others(753): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG01258.hp2 HG01261.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 439 | 0.0137 | 760 | c.*28 others(771): Show |
NDUFA3 | ENSG00000170906.16 | transcript | ENST00000485876.6 | protein_coding | 2230 | chr19 | TogoVar | ||||||
NEU1_chr6_31852659_31867821 | 31853826 | C | CGCAGAGG others(753): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 419 | 0.0024 | 760 | c.*58 others(771): Show |
NEU1 | ENSG00000204386.12 | transcript | ENST00000375631.5 | protein_coding | 3832 | chr6 | TogoVar | ||||||
NEU1_chr6_31852659_31867821 | 31853826 | C | CGCAGAGG others(753): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 419 | 0.0024 | 760 | c.*58 others(771): Show |
NEU1 | ENSG00000204386.12 | transcript | ENST00000375631.5 | protein_coding | 3832 | chr6 | TogoVar | ||||||
NEU1_chr6_31852659_31867821 | 31853826 | C | CGCAGAGG others(753): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 419 | 0.0048 | 760 | c.*58 others(771): Show |
NEU1 | ENSG00000204386.12 | transcript | ENST00000375631.5 | protein_coding | 3832 | chr6 | TogoVar | ||||||
NEU1_chr6_31852659_31867821 | 31853826 | C | CGCAGAGG others(753): Show |
downstream_gene_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 419 | 0.0024 | 760 | c.*58 others(771): Show |
NEU1 | ENSG00000204386.12 | transcript | ENST00000375631.5 | protein_coding | 3832 | chr6 | TogoVar | ||||||
NEU1_chr6_31852659_31867821 | 31853826 | C | CGCAGAGG others(753): Show |
downstream_gene_variant | MODIFIER | NA18991.hp1 NA19059.hp1 NA19059.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 419 | 0.0072 | 760 | c.*58 others(771): Show |
NEU1 | ENSG00000204386.12 | transcript | ENST00000375631.5 | protein_coding | 3832 | chr6 | TogoVar | ||||||
NFATC1_chr18_79390930_79534323 | 79532217 | C | CCCCCCGC others(753): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 322 | 0.0031 | 760 | c.*46 others(771): Show |
NFATC1 | ENSG00000131196.18 | transcript | ENST00000427363.7 | protein_coding | 2895 | chr18 | TogoVar | ||||||
NLRP4_chr19_55831540_55886855 | 55849944 | A | AATGTCTG others(753): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0241 | 1 | 424 | 0.0024 | 760 | c.-65 others(777): Show |
NLRP4 | ENSG00000160505.16 | transcript | ENST00000301295.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PDE1C_chr7_31746179_32075407 | 31886791 | T | TTTCGGAT others(753): Show |
intron_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0095 | 1 | 262 | 0.0038 | 760 | c.129 others(777): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31886791 | T | TTTCGGAT others(753): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 262 | 0.0038 | 760 | c.129 others(777): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(753): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 262 | 0.0038 | 760 | c.129 others(777): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PDE1C_chr7_31746179_32075407 | 31886851 | T | TTTCAGAA others(753): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 | 1 | 262 | 0.0038 | 760 | c.129 others(777): Show |
PDE1C | ENSG00000154678.18 | transcript | ENST00000396191.6 | protein_coding | 2/17 | chr7 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8662119 | T | TATATATA others(753): Show |
intron_variant | MODIFIER | HG02922.hp1 HG02922.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0002 | a0001c0003t0001g0043a0001c0004t0002g0065 | 2 | 106 | 0.0189 | 760 | c.862 others(777): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(753): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 250 | 0.0040 | 760 | c.309 others(779): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLCL2_chr3_16879955_17095604 | 17063256 | T | TCCTCCCT others(753): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 250 | 0.0040 | 760 | c.309 others(779): Show |
PLCL2 | ENSG00000154822.18 | transcript | ENST00000615277.5 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLEC_chr8_143910153_143944597 | 143928664 | C | CAGCGGGT others(753): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0004 | a0004c0097 | a0004c0097t0003 | a0004c0097t0003g0175 | 1 | 358 | 0.0028 | 760 | c.326 others(777): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000345136.8 | protein_coding | 25/31 | chr8 | TogoVar | ||||||
PLEC_chr8_143910153_143944597 | 143928664 | C | CAGCGGGT others(753): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0004 | a0004c0103 | a0004c0103t0003 | a0004c0103t0003g0174 | 1 | 358 | 0.0028 | 760 | c.326 others(777): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000345136.8 | protein_coding | 25/31 | chr8 | TogoVar | ||||||
PLEC_chr8_143910153_143978529 | 143928664 | C | CAGCGGGT others(753): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0004 | a0004c0086 | a0004c0086t0003 | a0004c0086t0003g0222 | 1 | 302 | 0.0033 | 760 | c.321 others(777): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000356346.7 | protein_coding | 25/31 | chr8 | TogoVar | ||||||
PLEC_chr8_143910153_143978529 | 143928664 | C | CAGCGGGT others(753): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0004 | a0004c0090 | a0004c0090t0003 | a0004c0090t0003g0152 | 1 | 302 | 0.0033 | 760 | c.321 others(777): Show |
PLEC | ENSG00000178209.17 | transcript | ENST00000356346.7 | protein_coding | 25/31 | chr8 | TogoVar | ||||||
PTDSS2_chr11_445279_496399 | 459074 | A | AGGACCTG others(753): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0164 | 1 | 346 | 0.0029 | 760 | c.183 others(777): Show |
PTDSS2 | ENSG00000174915.12 | transcript | ENST00000308020.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
RANBP10_chr16_67718070_67811560 | 67809198 | G | GGTGGCTC others(753): Show |
upstream_gene_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 152 | 0.0066 | 760 | c.-26 others(771): Show |
RANBP10 | ENSG00000141084.12 | transcript | ENST00000317506.8 | protein_coding | 2639 | chr16 | TogoVar | ||||||
RBPMS_chr8_30379541_30577256 | 30388438 | T | TTATAGCT others(753): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 304 | 0.0033 | 760 | c.66+ others(775): Show |
RBPMS | ENSG00000157110.16 | transcript | ENST00000397323.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RPA3_chr7_7631518_7723607 | 7679038 | T | TATAAATA others(753): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021 | a0001c0001t0002g0252a0001c0001t0021g0251 | 2 | 308 | 0.0065 | 760 | c.-75 others(779): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(753): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0030a0001c0001t0004g0258 | 2 | 308 | 0.0065 | 760 | c.-75 others(779): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPA3_chr7_7631518_7723607 | 7679098 | C | CATATATT others(753): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 308 | 0.0033 | 760 | c.-75 others(779): Show |
RPA3 | ENSG00000106399.11 | transcript | ENST00000223129.8 | protein_coding | 4/7 | chr7 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 305014 | G | GGGGGACA others(753): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0090 | 1 | 133 | 0.0075 | 760 | c.351 others(779): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGGGGACA others(753): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0042 | 1 | 133 | 0.0075 | 760 | c.351 others(779): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | ||||||
SAMD11_chr1_918923_949574 | 934657 | A | AGGCTGCT others(753): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0209 | 1 | 434 | 0.0023 | 760 | c.843 others(777): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SEL1L2_chr20_13844247_13995614 | 13934343 | C | CATATATA others(753): Show |
intron_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 324 | 0.0031 | 760 | c.115 others(777): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SHISAL1_chr22_44238665_44317951 | 44302613 | T | TAGCAGGG others(753): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0157 | a0001c0157t0001 | a0001c0157t0001g0088 | 1 | 380 | 0.0026 | 760 | c.-32 others(777): Show |
SHISAL1 | ENSG00000138944.8 | transcript | ENST00000381176.5 | protein_coding | 1/4 | chr22 | TogoVar | ||||||
SLAIN1_chr13_77692687_77769229 | 77703948 | T | TAAAATAT others(753): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0149 | 1 | 300 | 0.0033 | 760 | c.626 others(777): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(753): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0131 | 1 | 244 | 0.0041 | 760 | c.774 others(777): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(753): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0130 | 1 | 244 | 0.0041 | 760 | c.774 others(777): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168726523 | G | GGAGGCAG others(753): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0028 | 1 | 132 | 0.0076 | 760 | c.227 others(779): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 168726523 | G | GGAGGCAG others(753): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0042 | a0001c0042t0034 | a0001c0042t0034g0130 | 1 | 132 | 0.0076 | 760 | c.227 others(779): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46184511 | C | CCAACCCA others(753): Show |
upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 251 | 0.0040 | 760 | c.-11 others(771): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 53 | chr21 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46184564 | C | CCAACCCA others(753): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0001a0001c0001t0013g0101 | 2 | 251 | 0.0080 | 760 | c.-11 others(771): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 106 | chr21 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852655 | G | GATCCCAT others(753): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0046 | 1 | 356 | 0.0028 | 760 | c.646 others(777): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SPIRE2_chr16_89823475_89876319 | 89852861 | A | ATGGCCCG others(753): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0327 | 1 | 356 | 0.0028 | 760 | c.646 others(777): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SREBF1_chr17_17806334_17841986 | 17831079 | A | AGCCACCT others(753): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02970.hp2 HG03516.hp2 |
a0001a0020 | a0001c0004a0020c0012 | a0001c0004t0022a0001c0004t0035a0020c0012t0022 | a0001c0004t0022g0133a0001c0004t0035g0261a0020c0012t0022g0260 | 3 | 352 | 0.0085 | 760 | c.91+ others(775): Show |
SREBF1 | ENSG00000072310.18 | transcript | ENST00000261646.11 | protein_coding | 1/18 | chr17 | TogoVar | ||||||
STAG1_chr3_136331236_136757378 | 136702117 | G | GACAGAGA others(753): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0193 | 1 | 240 | 0.0042 | 760 | c.-84 others(779): Show |
STAG1 | ENSG00000118007.13 | transcript | ENST00000383202.7 | protein_coding | 1/33 | chr3 | TogoVar |