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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ARHGAP19_chr10_97217179_97297637 | 97251740 | G | GGAAGGGG others(1219): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 242 | 0.0041 | 1226 | c.927 others(1243): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48043533 | C | CCACCATC others(1219): Show |
intron_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0229 | 1 | 376 | 0.0027 | 1226 | c.63+ others(1239): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1219): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 258 | 0.0039 | 1226 | c.403 others(1241): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1219): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 364 | 0.0028 | 1226 | c.445 others(1241): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CSNKA2IP_chr3_88333456_88472594 | 88346819 | A | AGGAGTAA others(1219): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0243 | 1 | 386 | 0.0026 | 1226 | c.-27 others(1245): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
DGKB_chr7_14140049_14907751 | 14471356 | A | AATATATG others(1219): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0065 | 1 | 148 | 0.0068 | 1226 | c.183 others(1245): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471356 | A | AATATATG others(1219): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 148 | 0.0068 | 1226 | c.183 others(1245): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14471356 | A | AATATATG others(1219): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0115 | 1 | 148 | 0.0068 | 1226 | c.183 others(1245): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 21/25 | chr7 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478076 | G | GGGGAAGG others(1219): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0085 | 1 | 88 | 0.0114 | 1226 | c.158 others(1243): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49202963 | C | CCCTCCGC others(1219): Show |
intron_variant | MODIFIER | NA19003.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0077a0001c0001t0003g0078 | 2 | 290 | 0.0069 | 1226 | c.162 others(1245): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706433 | G | GATACATA others(1219): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0207 | 1 | 292 | 0.0034 | 1226 | c.228 others(1243): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706433 | G | GATACATA others(1219): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0165 | 1 | 292 | 0.0034 | 1226 | c.228 others(1243): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
EVC_chr4_5706201_5819305 | 5706433 | G | GATACATA others(1219): Show |
upstream_gene_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0185 | 1 | 369 | 0.0027 | 1226 | c.-49 others(1237): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4767 | chr4 | TogoVar | ||||||
KIF3B_chr20_32272651_32340011 | 32322993 | C | CATATTTA others(1219): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0188 | 1 | 242 | 0.0041 | 1226 | c.174 others(1245): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
LIPC_chr15_58426991_58574844 | 58484719 | C | CACACTTT others(1219): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00597.hp2 HG00609.hp2 others(38): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(15): Show | a0001c0001t0001g0049a0001c0001t0001g0105a0001c0001t0001g0177others(38): Show | 41 | 358 | 0.1145 | 1226 | c.88+ others(1243): Show |
LIPC | ENSG00000166035.11 | transcript | ENST00000299022.10 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953818 | C | CTCCTACA others(1219): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03209.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0006a0001c0004t0001 | a0001c0002t0006g0050a0001c0004t0001g0061 | 2 | 294 | 0.0068 | 1226 | c.503 others(1241): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(1219): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0031 | a0031c0044 | a0031c0044t0018 | a0031c0044t0018g0193 | 1 | 292 | 0.0034 | 1226 | c.218 others(1241): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158667840 | C | CCTTACCC others(1219): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 378 | 0.0027 | 1226 | c.148 others(1245): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | ||||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCT others(1219): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0284 | 1 | 360 | 0.0028 | 1226 | c.456 others(1241): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1219): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 456 | 0.0022 | 1226 | c.*31 others(1237): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1219): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 456 | 0.0022 | 1226 | c.*31 others(1237): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
OR11H4_chr14_20234286_20249349 | 20237775 | A | ATATATAG others(1219): Show |
upstream_gene_variant | MODIFIER | HG03130.hp2 HG03225.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0076a0001c0001t0001g0229a0001c0001t0002g0230 | 3 | 439 | 0.0068 | 1226 | c.-15 others(1237): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1510 | chr14 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1219): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0102 | 1 | 282 | 0.0036 | 1226 | c.299 others(1241): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | ||||||
RAB40B_chr17_82649973_82703698 | 82672045 | C | CCACCCCT others(1219): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG02027.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(4): Show | a0001c0001t0001g0057a0001c0001t0001g0204a0001c0001t0001g0205others(16): Show | 19 | 338 | 0.0562 | 1226 | c.143 others(1243): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
RAB40B_chr17_82649973_82703698 | 82672045 | C | CCACCCCT others(1219): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 338 | 0.0030 | 1226 | c.143 others(1243): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | ||||||
SEL1L2_chr20_13844247_13995614 | 13934360 | T | TATATATA others(1219): Show |
intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 324 | 0.0031 | 1226 | c.115 others(1243): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913580 | T | TTGCTGTG others(1219): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 420 | 0.0024 | 1226 | c.*28 others(1237): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1895 | chr9 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913580 | T | TTGCTGTG others(1219): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002a0001c0001t0005g0009 | 2 | 420 | 0.0048 | 1226 | c.*28 others(1237): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 1895 | chr9 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50028886 | A | ACCCCCAC others(1219): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0205 | 1 | 224 | 0.0045 | 1226 | c.225 others(1245): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 13/13 | chr22 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ACACACAC others(1219): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0209 | 1 | 338 | 0.0030 | 1226 | c.*35 others(1245): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ADPRHL1_chr13_113394611_113458488 | 113419038 | C | CCCCTTCC others(1220): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 262 | 0.0038 | 1227 | c.106 others(1246): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 7/7 | chr13 | TogoVar | ||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1220): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0150 | 1 | 242 | 0.0041 | 1227 | c.927 others(1244): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939822 | G | GAAAGAAA others(1220): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 258 | 0.0078 | 1227 | c.403 others(1242): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CENPM_chr22_41933737_41952152 | 41939840 | A | AAAAGAAG others(1220): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 258 | 0.0039 | 1227 | c.403 others(1242): Show |
CENPM | ENSG00000100162.15 | transcript | ENST00000215980.10 | protein_coding | 5/5 | chr22 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1220): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02818.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0058a0001c0001t0060 | a0001c0001t0040g0102a0001c0001t0058g0011a0001c0001t0060g0001 | 3 | 116 | 0.0259 | 1227 | c.-52 others(1248): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1220): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0066 | 1 | 116 | 0.0086 | 1227 | c.-52 others(1248): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647359 | A | ACAATCCT others(1220): Show |
downstream_gene_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0248 | 1 | 276 | 0.0036 | 1227 | c.*52 others(1238): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2015 | chr15 | TogoVar | ||||||
CSNKA2IP_chr3_88333456_88472594 | 88346819 | A | AGGAGTAA others(1220): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0244 | 1 | 386 | 0.0026 | 1227 | c.-27 others(1246): Show |
CSNKA2IP | ENSG00000283434.2 | transcript | ENST00000637986.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CYLC1_chrX_83856146_83891698 | 83878168 | A | ATAAACAT others(1220): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 208 | 0.0048 | 1227 | c.192 others(1246): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | chrX | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878183 | G | GTATATAA others(1220): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 208 | 0.0048 | 1227 | c.192 others(1246): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DYM_chr18_49031387_49465645 | 49202963 | C | CCCTCCGC others(1220): Show |
intron_variant | MODIFIER | HG02132.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076a0001c0001t0003g0079 | 2 | 290 | 0.0069 | 1227 | c.162 others(1246): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185119 | C | CCCCTTCT others(1220): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0013 | a0013c0081 | a0013c0081t0002 | a0013c0081t0002g0099 | 1 | 174 | 0.0058 | 1227 | c.193 others(1246): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GALR1_chr18_77244848_77282900 | 77252908 | C | CCACCACC others(1220): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0283 | 1 | 366 | 0.0027 | 1227 | c.666 others(1244): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916099 | T | TTATATAT others(1220): Show |
intron_variant | MODIFIER | HG03209.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0071a0001c0001t0009g0072 | 2 | 108 | 0.0185 | 1227 | c.648 others(1246): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916099 | T | TTATATAT others(1220): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0005 | a0005c0013 | a0005c0013t0010 | a0005c0013t0010g0061 | 1 | 108 | 0.0093 | 1227 | c.648 others(1246): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC7_chr1_69562922_70149364 | 69916099 | T | TTATATAT others(1220): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0043 | 1 | 108 | 0.0093 | 1227 | c.648 others(1246): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MCC_chr5_113017106_113493453 | 113114987 | G | GAAAAGGC others(1220): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02145.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0007a0001c0016 | a0001c0007t0006a0001c0016t0006a0001c0016t0023 | a0001c0007t0006g0078a0001c0007t0006g0102a0001c0016t0006g0042others(2): Show | 5 | 160 | 0.0313 | 1227 | c.102 others(1246): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 6/18 | chr5 | TogoVar | ||||||
MLPH_chr2_237482251_237560322 | 237544248 | G | GGGGGGAC others(1220): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0232 | 1 | 286 | 0.0035 | 1227 | c.153 others(1246): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
MPPED1_chr22_43407014_43512848 | 43432644 | G | GAGAGAGA others(1220): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0052 | 1 | 250 | 0.0040 | 1227 | c.225 others(1244): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
OLFM1_chr9_135082668_135126180 | 135096118 | C | CTCCTTCA others(1220): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0322 | 1 | 360 | 0.0028 | 1227 | c.456 others(1242): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |