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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RIN3_chr14_92508781_92693994 | 92547360 | A | AAATAAAT others(933): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0004 | a0004c0056 | a0004c0056t0001 | a0004c0056t0001g0098 | 1 | 306 | 0.0033 | 940 | c.45- others(955): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(933): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02647.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0002g0004 others(1): Show |
10 | 19 | 0.5263 | 940 | c.-48 others(951): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
RPS21_chr20_62382103_62393520 | 62382278 | G | GTGATGGT others(933): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 HG03098.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 2 | 11 | 0.1818 | 940 | c.-48 others(951): Show |
RPS21 | ENSG00000171858.18 | transcript | ENST00000343986.9 | protein_coding | 4824 | chr20 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197114 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0305 | 1 | 396 | 0.0025 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197150 | C | CATCTATC others(933): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 | 1 | 373 | 0.0027 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02273.hp1 |
a0002a0006 | a0002c0003a0006c0015 | a0002c0003t0002a0006c0015t0002 | a0002c0003t0002g0037 a0006c0015t0002g0073 |
2 | 274 | 0.0073 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 273 | 0.0037 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0091 | 1 | 273 | 0.0037 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0131 | 1 | 273 | 0.0037 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0072 | 1 | 273 | 0.0037 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0104 | 1 | 273 | 0.0037 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197162 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0333 | 1 | 273 | 0.0037 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 | 1 | 201 | 0.0050 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0120 | 1 | 201 | 0.0050 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0079 | 1 | 201 | 0.0050 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0010 | a0010c0016 | a0010c0016t0002 | a0010c0016t0002g0113 | 1 | 201 | 0.0050 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCCATC others(933): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0078 | 1 | 201 | 0.0050 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCTATC others(933): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0025 | a0001c0025t0021 | a0001c0025t0021g0035 | 1 | 201 | 0.0050 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCTATC others(933): Show |
intron_variant | MODIFIER | NA19003.hp1 NA19079.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0027 | a0002c0002t0001g0067 a0002c0002t0027g0140 |
2 | 202 | 0.0099 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SLC6A12_chr12_185081_219157 | 197174 | C | CATCTATC others(933): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0015 | 1 | 201 | 0.0050 | 940 | c.107 others(957): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273068 | A | GCCATCCA others(933): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0371 | 1 | 110 | 0.0091 | 940 | c.228 others(957): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747289 | G | GCTGGGGT others(933): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0263 | 1 | 264 | 0.0038 | 940 | c.189 others(957): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TRIM48_chr11_55257155_55276114 | 55273308 | T | TTATATAT others(933): Show |
downstream_gene_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 149 | 0.0067 | 940 | c.*28 others(951): Show |
TRIM48 | ENSG00000150244.12 | transcript | ENST00000417545.5 | protein_coding | 2195 | chr11 | TogoVar | |||||||
TXNDC16_chr14_52425596_52557505 | 52530564 | T | TATAATAA others(933): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0227 | 1 | 99 | 0.0101 | 940 | c.392 others(957): Show |
TXNDC16 | ENSG00000087301.9 | transcript | ENST00000281741.9 | protein_coding | 6/20 | chr14 | TogoVar | |||||||
WDR64_chr1_241647281_241807777 | 241675123 | C | CCTTCCTT others(933): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0013 | a0001c0013t0002 | a0001c0013t0002g0058 | 1 | 25 | 0.0400 | 940 | c.483 others(955): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ZNF407_chr18_74592870_75070671 | 74616905 | A | ACACCACA others(933): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02647.hp2 HG03579.hp1 |
a0002a0010a0014 | a0002c0004a0010c0021a0014c0022 | a0002c0004t0005a0010c0021t0001a0014c0022t0008 | a0002c0004t0005g0040 a0010c0021t0001g0039 a0014c0022t0008g0038 |
3 | 75 | 0.0400 | 940 | c.-53 others(959): Show |
ZNF407 | ENSG00000215421.10 | transcript | ENST00000299687.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95025448 | A | ACACCCAC others(934): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02523.hp1 NA20300.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0003t0001a0002c0004t0001 | a0001c0001t0001g0064 a0001c0003t0001g0034 a0002c0004t0001g0150 |
3 | 14 | 0.2143 | 941 | c.387 others(960): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 30/30 | chr13 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(934): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0263 | 1 | 70 | 0.0143 | 941 | c.*51 others(952): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
CDA_chr1_20584097_20623903 | 20623746 | G | GAAGTGCT others(934): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081 | 1 | 70 | 0.0143 | 941 | c.*51 others(952): Show |
CDA | ENSG00000158825.6 | transcript | ENST00000375071.4 | protein_coding | 4844 | chr1 | TogoVar | |||||||
CNNM2_chr10_102913294_103095222 | 102995201 | T | TCCTCCCC others(934): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0002 | a0001c0002t0106 | a0001c0002t0106g0228 | 1 | 2 | 0.5000 | 941 | c.162 others(962): Show |
CNNM2 | ENSG00000148842.18 | transcript | ENST00000369878.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130615151 | G | GTTTCAAA others(934): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0139 | 1 | 262 | 0.0038 | 941 | c.481 others(960): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 23/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978292 | T | TTTATATA others(934): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0067 | 1 | 59 | 0.0169 | 941 | c.-2+ others(958): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132242519 | C | CCCCTTCC others(934): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0021 | a0001c0021t0004 | a0001c0021t0004g0155 | 1 | 168 | 0.0060 | 941 | c.107 others(960): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
INS_chr11_2154779_2166209 | 2161948 | C | CACCCCTG others(934): Show |
upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 13 | 0.0769 | 941 | c.-79 others(950): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 740 | chr11 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(934): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0196 | 1 | 8 | 0.1250 | 941 | c.115 others(958): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(934): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0005 | a0001c0005t0007 | a0001c0005t0007g0028 | 1 | 8 | 0.1250 | 941 | c.115 others(958): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(934): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0002 | a0002c0014 | a0002c0014t0001 | a0002c0014t0001g0066 | 1 | 8 | 0.1250 | 941 | c.115 others(958): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432640 | A | AAAGGGAG others(934): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00738.hp1 HG02602.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0079 others(1): Show |
4 | 67 | 0.0597 | 941 | c.225 others(958): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | |||||||
PAX1_chr20_21700664_21723481 | 21721646 | T | TATGTATT others(934): Show |
downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 122 | 0.0082 | 941 | c.*70 others(952): Show |
PAX1 | ENSG00000125813.15 | transcript | ENST00000613128.5 | protein_coding | 3166 | chr20 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33458800 | A | AGGGCATG others(934): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 157 | 0.0064 | 941 | c.671 others(958): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | |||||||
PEPD_chr19_33381950_33526791 | 33458800 | A | AGGGCATG others(934): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 157 | 0.0064 | 941 | c.671 others(958): Show |
PEPD | ENSG00000124299.16 | transcript | ENST00000244137.12 | protein_coding | 9/14 | chr19 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354358 | T | TATGATAT others(934): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01175.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0091 a0003c0003t0002g0094 |
2 | 222 | 0.0090 | 941 | c.176 others(960): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946837 | T | TGGGGAGA others(934): Show |
intron_variant | MODIFIER | HG02738.hp1 HG04184.hp1 |
a0001 | a0001c0028 | a0001c0028t0001 | a0001c0028t0001g0260 a0001c0028t0001g0263 |
2 | 25 | 0.0800 | 941 | c.371 others(958): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(934): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 67 | 0.0149 | 941 | c.306 others(960): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
RBFOX3_chr17_79084345_79616051 | 79555288 | G | GGTGATGG others(934): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 152 | 0.0066 | 941 | c.-32 others(962): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RNF150_chr4_140854807_141138469 | 141000123 | A | AAGAAGAA others(934): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0166 | 1 | 182 | 0.0055 | 941 | c.485 others(960): Show |
RNF150 | ENSG00000170153.11 | transcript | ENST00000515673.7 | protein_coding | 1/6 | chr4 | TogoVar | |||||||
SARDH_chr9_133658560_133743352 | 133668305 | C | CTCCCTCT others(934): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 259 | 0.0039 | 941 | c.249 others(960): Show |
SARDH | ENSG00000123453.19 | transcript | ENST00000439388.6 | protein_coding | 19/20 | chr9 | TogoVar | |||||||
SGSM2_chr17_2332501_2386054 | 2355048 | A | ACCCCATA others(934): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0029 | 1 | 274 | 0.0036 | 941 | c.134 others(958): Show |
SGSM2 | ENSG00000141258.13 | transcript | ENST00000268989.8 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SIGIRR_chr11_400716_419999 | 401552 | G | GCCCGCTC others(934): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 67 | 0.0149 | 941 | c.*43 others(952): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 4163 | chr11 | TogoVar | |||||||
SLC66A2_chr18_79897420_79956653 | 79952716 | G | GCGGGTGA others(934): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0289 | 1 | 283 | 0.0035 | 941 | c.-12 others(952): Show |
SLC66A2 | ENSG00000122490.19 | transcript | ENST00000397778.7 | protein_coding | 1064 | chr18 | TogoVar |