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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(1001): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0032a0001c0004t0011 | a0001c0002t0032g0252 a0001c0004t0011g0253 |
2 | 89 | 0.0225 | 1008 | c.225 others(1025): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(1001): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0022a0001c0002t0040 | a0001c0002t0013g0224 a0001c0002t0013g0310 a0001c0002t0013g0311 others(3): Show |
6 | 93 | 0.0645 | 1008 | c.225 others(1025): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(1001): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02015.hp1 HG02698.hp1 others(10): Show |
a0001 | a0001c0007a0001c0031a0001c0038 | a0001c0007t0006a0001c0007t0021a0001c0007t0036others(4): Show | a0001c0007t0006g0131 a0001c0007t0006g0189 a0001c0007t0006g0228 others(10): Show |
13 | 100 | 0.1300 | 1008 | c.225 others(1025): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(1001): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0050 | a0001c0002t0050g0226 | 1 | 88 | 0.0114 | 1008 | c.225 others(1025): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(1001): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03209.hp2 |
a0001 | a0001c0010 | a0001c0010t0012 | a0001c0010t0012g0003 a0001c0010t0012g0004 |
2 | 89 | 0.0225 | 1008 | c.225 others(1025): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7864093 | C | CCATTCCC others(1001): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0211 | 1 | 88 | 0.0114 | 1008 | c.225 others(1025): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
ARHGEF10_chr8_1818926_1963641 | 1833035 | G | GAGAGACA others(1001): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0003 | a0003c0064 | a0003c0064t0060 | a0003c0064t0060g0269 | 1 | 74 | 0.0135 | 1008 | c.-48 others(1025): Show |
ARHGEF10 | ENSG00000104728.16 | transcript | ENST00000349830.8 | protein_coding | 1/28 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1001): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0292 | 1 | 8 | 0.1250 | 1008 | c.285 others(1027): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1001): Show |
intron_variant | MODIFIER | HG01975.hp1 HG01993.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 a0001c0001t0001g0304 |
2 | 9 | 0.2222 | 1008 | c.285 others(1027): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ART1_chr11_3640128_3669416 | 3654744 | A | ATCCTCAC others(1001): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0048 | 1 | 347 | 0.0029 | 1008 | c.-52 others(1025): Show |
ART1 | ENSG00000129744.3 | transcript | ENST00000250693.2 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79309034 | C | CGGAGGAG others(1001): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0167 | 1 | 281 | 0.0036 | 1008 | c.177 others(1027): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | chr18 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79309251 | G | GGAGGAGT others(1001): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0170 | 1 | 246 | 0.0041 | 1008 | c.177 others(1027): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 15/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331540 | A | AAGGGAAA others(1001): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 219 | 0.0046 | 1008 | c.327 others(1025): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(1001): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01123.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 a0001c0002t0001g0047 a0001c0002t0001g0086 others(6): Show |
9 | 180 | 0.0500 | 1008 | c.672 others(1023): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC63_chr12_110841987_110912535 | 110880708 | G | GTGATGGT others(1001): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0015 a0004c0006t0001g0125 |
2 | 173 | 0.0116 | 1008 | c.672 others(1023): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293473 | T | TGCCACAG others(1001): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0030 | a0002c0030t0001 | a0002c0030t0001g0194 | 1 | 229 | 0.0044 | 1008 | c.411 others(1025): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293473 | T | TGCCACAG others(1001): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02280.hp1 |
a0011 | a0011c0022 | a0011c0022t0001 | a0011c0022t0001g0030 a0011c0022t0001g0031 |
2 | 230 | 0.0087 | 1008 | c.411 others(1025): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(1001): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 229 | 0.0044 | 1008 | c.411 others(1025): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1001): Show |
upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0076 | 1 | 66 | 0.0152 | 1008 | c.-25 others(1019): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1001): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0019 | 1 | 66 | 0.0152 | 1008 | c.-25 others(1019): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1001): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0306 | 1 | 66 | 0.0152 | 1008 | c.-25 others(1019): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CDON_chr11_125951821_126067866 | 126065033 | T | TATAGTAT others(1001): Show |
upstream_gene_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0021 | a0001c0021t0064 | a0001c0021t0064g0101 | 1 | 66 | 0.0152 | 1008 | c.-25 others(1019): Show |
CDON | ENSG00000064309.16 | transcript | ENST00000531738.6 | protein_coding | 2168 | chr11 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89647690 | G | GGACCCAG others(1001): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 155 | 0.0065 | 1008 | c.253 others(1023): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648153 | G | CACCCAGT others(1001): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 357 | 0.0028 | 1008 | c.253 others(1023): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648195 | G | GACCCAGT others(1001): Show |
intron_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 352 | 0.0028 | 1008 | c.253 others(1023): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CHMP1A_chr16_89639435_89662708 | 89648435 | C | CGCCGACG others(1001): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0228 | 1 | 354 | 0.0028 | 1008 | c.252 others(1023): Show |
CHMP1A | ENSG00000131165.16 | transcript | ENST00000397901.8 | protein_coding | 4/6 | chr16 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333123 | C | CAGATAAG others(1001): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 314 | 0.0032 | 1008 | c.891 others(1025): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110385906 | T | TTACAGTG others(1001): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0312 | 1 | 245 | 0.0041 | 1008 | c.180 others(1027): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ENTPD2_chr9_137043107_137059061 | 137050042 | G | GCCGCCAC others(1001): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 325 | 0.0031 | 1008 | c.103 others(1023): Show |
ENTPD2 | ENSG00000054179.12 | transcript | ENST00000355097.7 | protein_coding | 6/8 | chr9 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706317 | G | GATACATA others(1001): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0186 | 1 | 276 | 0.0036 | 1008 | c.228 others(1025): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706317 | G | GATACATA others(1001): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 276 | 0.0036 | 1008 | c.228 others(1025): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706317 | G | GATACATA others(1001): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0269 | 1 | 353 | 0.0028 | 1008 | c.-50 others(1019): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4883 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706317 | G | GATACATA others(1001): Show |
upstream_gene_variant | MODIFIER | HG03669.hp2 | a0004 | a0004c0020 | a0004c0020t0001 | a0004c0020t0001g0267 | 1 | 353 | 0.0028 | 1008 | c.-50 others(1019): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4883 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706317 | G | GATACATA others(1001): Show |
upstream_gene_variant | MODIFIER | NA18983.hp2 | a0057 | a0057c0055 | a0057c0055t0001 | a0057c0055t0001g0293 | 1 | 353 | 0.0028 | 1008 | c.-50 others(1019): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4883 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706337 | G | GATAGATA others(1001): Show |
upstream_gene_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0009 | a0001c0009t0023 | a0001c0009t0023g0012 | 1 | 311 | 0.0032 | 1008 | c.-50 others(1019): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4863 | chr4 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71435248 | A | AAGGAAGG others(1001): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0073 | 1 | 78 | 0.0128 | 1008 | c.-16 others(1029): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
IL17REL_chr22_49986811_50017765 | 50009894 | T | TGGCGGCA others(1001): Show |
intron_variant | MODIFIER | HG02451.hp2 HG03195.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0023 a0001c0001t0007g0062 a0001c0001t0009g0063 |
4 | 106 | 0.0377 | 1008 | c.103 others(1025): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9406083 | G | GTGTTTGT others(1001): Show |
3_prime_UTR_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 256 | 0.0039 | 1008 | c.*75 others(1017): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 750 | chr2 | TogoVar | ||||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(1001): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 110 | 0.0091 | 1008 | c.735 others(1025): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62360414 | T | TGGGTGCG others(1001): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0077 | a0077c0030 | a0077c0030t0001 | a0077c0030t0001g0177 | 1 | 184 | 0.0054 | 1008 | c.450 others(1025): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 2/79 | chr20 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124610422 | A | AGGGTGAG others(1001): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0013 | 1 | 98 | 0.0102 | 1008 | c.717 others(1025): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124610422 | A | AGGGTGAG others(1001): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0090 | 1 | 98 | 0.0102 | 1008 | c.717 others(1025): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579045 | C | CCACCATC others(1001): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 343 | 0.0029 | 1008 | c.391 others(1023): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MFSD8_chr4_127912805_127970173 | 127926315 | A | ATCCAGGC others(1001): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02572.hp1 HG02922.hp2 |
a0004 | a0004c0004 | a0004c0004t0005a0004c0004t0010 | a0004c0004t0005g0092 a0004c0004t0010g0011 |
3 | 125 | 0.0240 | 1008 | c.999 others(1025): Show |
MFSD8 | ENSG00000164073.11 | transcript | ENST00000641686.2 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877054 | G | GGGAGGTT others(1001): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0257 | 1 | 235 | 0.0043 | 1008 | c.224 others(1027): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877558 | T | TGGAGGTT others(1001): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0005 | a0005c0008 | a0005c0008t0005 | a0005c0008t0005g0006 | 1 | 216 | 0.0046 | 1008 | c.224 others(1027): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(1001): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0119 | 1 | 8 | 0.1250 | 1008 | c.250 others(1023): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
MRPS9_chr2_105033069_105104960 | 105054579 | A | ACCCCTTT others(1001): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0162 | 1 | 190 | 0.0053 | 1008 | c.315 others(1025): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPS9_chr2_105033069_105104960 | 105055529 | C | CGCATTTT others(1001): Show |
intron_variant | MODIFIER | NA18986.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 a0001c0001t0001g0219 |
2 | 148 | 0.0135 | 1008 | c.315 others(1025): Show |
MRPS9 | ENSG00000135972.9 | transcript | ENST00000258455.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195784711 | G | GGAAGAGG others(1001): Show |
conservative_inframe_insertion | MODERATE | HG02486.hp1 | a0066 | a0066c0118 | a0066c0118t0004 | a0066c0118t0004g0229 | 1 | 247 | 0.0040 | 1008 | c.686 others(1017): Show |
p.Leu others(1023): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 6980/16756 | 6868/16239 | 2290/5412 | chr3 | TogoVar |