Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
TENM4_chr11_78647829_79446030	78879317	A A	ATCTGGGA others(705): Show ATCTGGGATGTGAGGAGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGA GGAGCGCCTCTGCCCGGCAGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTC TGCCCGGCCGCCCCGACTGGGAGGTGGGGAGTGCCTCTGCCCGGCCGCCC CGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTG GGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTG CCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCG TCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGG GAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCC CGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTC TGGGAGGTGGGGAGCGCCTCTGCCCGGTCGCCCCGTCTGGGATGTGGGGA GCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGGGGAGCGCCTCTGCCTG GCAGCCGCCCTGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGA CTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGG AGCGCCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTGCCT GGCAGCCGCCCTG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0019 a0001c0024t0019	a0001c0024t0019g0001 a0001c0024t0019g0001	1	94	0.0106	712	c.108 others(733): Show c.1084+10467_1084+10468insCAGGGCGGCTGCCAGGCAGAGGCG CTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCC AGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGTCGGGGCGGCC GGGCAGAGGCGCTCCCCACCTCCCAGACAGGGCGGCTGCCAGGCAGAGGC GCTCCCCACCTCTCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACATCC CAGACGGGGCGACCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGC TCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCA GACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCG GGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTC CCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGA CGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGG CAGAGGCACTCCCCACCTCCCAGTCGGGGCGGCCGGGCAGAGGCGCTCCC CACCTCCCAGACGGGGCGGCTGCCGGGCAGAGGCGCTCCTCACCTCTCAG ACGGGGCGGCCGGGCAGAGGCGCTCCTCACATCCCAGA	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TENM4_chr11_78647829_79446030	78879335	G G	ACCTCTGC others(705): Show ACCTCTGCCCGGCCGCCCCGTCTGAGAGGTGAGGAGCGCCTCTGCCTGGC AGCCGCCCTGTCTGCGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCT GGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGACTGGGAGGTGGGGAG CGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGG CCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGG GAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCG CCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCC GCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGA GGTGGGGAGCGCCTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCC TCTGCCCGGTCGCCCCGTCTGGGATGTGGGGAGCGCCTCTGCCCGGCCGC CCCGTCTGAGAGGTGGGGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGGG AGGTGGGGAGCGCCTCTGCCCGGCCGCCCCGACTGGGAGGTGGGGAGCGC CTCTGCCCGGCCGCCCCGTCTGGGAGGTGGGGAGCGCCTCTGCCCGGCCG CCCTGTCTGAGAGGTGAGGAGCGCCTCTGCCTGGCAGCCGCCCTGTCTGG GATGTGAGGAGCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG02647.hp2 HG02965.hp2	a0005 a0005	a0005c0044 a0005c0045 a0005c0044 a0005c0045	a0005c0044t0030 a0005c0045t0044 a0005c0044t0030 a0005c0045t0044	a0005c0044t0030g0025 a0005c0045t0044g0071 a0005c0044t0030g0025 a0005c0045t0044g0071	2	94	0.0213	712	c.108 others(733): Show c.1084+10450_1084+10451insGCTCCTCACATCCCAGACAGGGCG GCTGCCAGGCAGAGGCGCTCCTCACCTCTCAGACAGGGCGGCCGGGCAGA GGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACC TCCCAGTCGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACAGGGC GGCTGCCAGGCAGAGGCGCTCCCCACCTCTCAGACGGGGCGGCCGGGCAG AGGCGCTCCCCACATCCCAGACGGGGCGACCGGGCAGAGGCGCTCCCCAC CTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGG CGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAG GCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCT CCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCG GCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGC GCTCCCCACCTCCCAGACGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCC CAGTCGGGGCGGCCGGGCAGAGGCGCTCCCCACCTCCCAGACGGGGCGGC CGGGCAGAGGCGCTCCCCACCTCGCAGACAGGGCGGCTGCCAGGCAGAGG CGCTCCTCACCTCTCAGACGGGGCGGCCGGGCAGAGGT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	9/33			chr11	TogoVar
TERT_chr5_1248167_1300068	1273498	C C	CAACCGCC others(705): Show CAACCGCCATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCCACAACCGCCATCCACAGTCACCACACATCAGAC CCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCAT CCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGA CCGATCACCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCAC GACTGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCA TCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	392	0.0026	712	c.228 others(731): Show c.2287-1219_2287-1218insTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGG GTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTAGGGTCTGATGTGTGGTGACTGTGGATGGCAGTCGTGGGGTCTGATG TGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGG ATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGT CGTGGGGTCTGATGTGGTGACTGTGGATGGTGATCGGTCACAGGGGTCTG ATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGG GGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGG TGACTGTGGATGGCGGTTGTGGGGGTCTGATGTGTGGTGACTGTGGATGG CGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(705): Show CTATTATATATATAATATACCTATTATATATAATATACCTATTATATATA AAATATACCTATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAT AATATACCTATTATATGCATTATATAATATATTATATATAATATGCATAT TATATGTATTATATATTATATATTATATATATAATATACATATTATATGT ATTATATATTATATATTATATATAATATACATATTATATGTATTATATAT TATATATAATATACATATATATTATATATTATATACATATTATATATTAT ATACATATTATATATTATATACATATTATATATTATATATTATATACATA TTATACATTATATATATCTAAAATATATAATACACATTATATATTATATA ATACACATTATATATTATATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATAATACACATTA TATATATATATAATACACATTATATATTATATATAATACACATTATATAT TATATATAATATACATTATATATTATATAATACACATTATATATTATATA TAATACACATTATATATATAATACACATAATTATATTATATATAATACAT AATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0026 a0001c0002t0002g0026	1	360	0.0028	712	c.62 others(723): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATAAT TATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTAT TATATAATATATAATGTATATTATATATAATATATAATGTGTATTATATA TAATATATAATGTGTATTATATATATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATGTATATA ATATATAATATATATGTATATTATATATAATATATAATACATATAATATG TATATTATATATAATATATAATATATAATACATATAATATGTATATTATA TATATAATATATAATATATAATACATATAATATGCATATTATATATAATA TATTATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGG TATATTATATATAATGCATATAATAGGTATATTATATATAATGCATATAA TAGGTATATTATATATAATAGGTATATTTTATATATAATAGGTATATTAT ATATAATAGGTATATTATATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(705): Show CTATTATATATATAATATACCTATTATATATAATATACCTATTATATATA AAATATACCTATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAT AATATACCTATTATATGCATTATATAATATATTATATATAATATGCATAT TATATGTATTATATATTATATATTATATATATAATATACATATTATATGT ATTATATATTATATATTATATATAATATACATATTATATGTATTATATAT TATATATAATATACATATATATTATATATTATATACATATTATATATTAT ATACATATTATATATTATATACATATTATATATTATATATTATATACATA TTATACATTATATATATCTAAAATATATAATACACATTATATATTATATA ATACACATTATATATTATATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATAATACACATTA TATATTATATATAATACACATTATATATTATATATAATACACATTATATA TTATATATAATATACATTATATATTATATAATACACATTATATATTATAT ATAATACACATTATATATATAATACACATTATATATTATATATAATACAT AATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG00609.hp1 HG00639.hp2 others(52): Show HG00597.hp2 HG00609.hp1 HG00639.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01123.hp2 HG01175.hp2 HG01192.hp2 HG01496.hp1 HG01981.hp1 HG02004.hp2 HG02071.hp2 HG02083.hp2 HG02300.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02922.hp2 HG03017.hp2 HG03669.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04204.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18944.hp1 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18963.hp2 NA18969.hp2 NA18971.hp2 NA18977.hp2 NA18981.hp1 NA18983.hp1 NA18987.hp2 NA18988.hp2 NA18999.hp1 NA19002.hp1 NA19004.hp2 NA19012.hp1 NA19030.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19074.hp1 NA19080.hp1 NA19084.hp1 NA19089.hp1 NA19090.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(3): Show a0001c0001 a0001c0002 a0001c0007 a0001c0026 a0001c0028 a0003c0010	a0001c0001t0002 a0001c0002t0002 a0001c0002t0015 others(7): Show a0001c0001t0002 a0001c0002t0002 a0001c0002t0015 a0001c0002t0016 a0001c0002t0017 a0001c0002t0018 a0001c0007t0002 a0001c0026t0002 a0001c0028t0002 a0003c0010t0002	a0001c0001t0002g0047 a0001c0001t0002g0164 a0001c0001t0002g0219 others(52): Show a0001c0001t0002g0047 a0001c0001t0002g0164 a0001c0001t0002g0219 a0001c0002t0002g0026 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0037 a0001c0002t0002g0061 a0001c0002t0002g0063 a0001c0002t0002g0097 a0001c0002t0002g0098 a0001c0002t0002g0099 a0001c0002t0002g0100 a0001c0002t0002g0121 a0001c0002t0002g0124 a0001c0002t0002g0147 a0001c0002t0002g0175 a0001c0002t0002g0180 a0001c0002t0002g0194 a0001c0002t0002g0244 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0248 a0001c0002t0002g0250 a0001c0002t0002g0251 a0001c0002t0002g0253 a0001c0002t0002g0255 a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 a0001c0002t0002g0259 a0001c0002t0002g0260 a0001c0002t0002g0261 a0001c0002t0002g0262 a0001c0002t0002g0263 a0001c0002t0002g0268 a0001c0002t0002g0271 a0001c0002t0002g0272 a0001c0002t0002g0273 a0001c0002t0002g0274 a0001c0002t0002g0279 a0001c0002t0002g0288 a0001c0002t0002g0300 a0001c0002t0015g0113 a0001c0002t0016g0290 a0001c0002t0017g0210 a0001c0002t0018g0060 a0001c0007t0002g0065 a0001c0007t0002g0276 a0001c0007t0002g0277 a0001c0007t0002g0278 a0001c0026t0002g0188 a0001c0028t0002g0109 a0003c0010t0002g0275	55	360	0.1528	712	c.62 others(723): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTATATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATGTATATA ATATATAATATATATGTATATTATATATAATATATAATACATATAATATG TATATTATATATAATATATAATATATAATACATATAATATGTATATTATA TATATAATATATAATATATAATACATATAATATGCATATTATATATAATA TATTATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGG TATATTATATATAATGCATATAATAGGTATATTATATATAATGCATATAA TAGGTATATTATATATAATAGGTATATTTTATATATAATAGGTATATTAT ATATAATAGGTATATTATATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TMEM242_chr6_157284025_157328519	157313189	C C	CGGCCTCA others(705): Show CGGCCTCATCATAGTGTCCCAGTGTGCACTCACCTAGACTCATCATAATG CCCCAGTATCCGCTCACCTAGCCTCATCATAGTTTCCCAGTGAGCGCTCA CCCGGCCTCATCATACTGCCCACTCTGCGCTCACCCGGCATCATCATAGT GTCCCACTGTGCGCTCACCTGGCCACATCATACTGTCCCAGTGTGCGCTC ACCTAGCCTCATCATAGTGTCCCAGTGTGCGCTCACCTAGCCTCATCATA GTGCCCCAGTGTGCGCTCACCTGGCCTCATCATAGTGCCCCAGTGTGCAT TCACCTAGCCTCATCATAGTGCCCCAGTGTGCACTCACCTAGCCTCATTA TAGTGTCCCAGTGTGCGCTCACCCGACCTCATCATAGTGCCCCAGTGTGC ACTCAGGTACCTCATCATAGTGTCCCAGTGTGCACTCACCCGGCCTCCTC ATAGTGTTCCAGTGTGCGCTCACCCAGCCTCGTCATAGTGCCCCAGTGCT CGCTCACCTGGCCTCATCATAGTGTCCCAGAGTGCACTCACCTGGCCTCA TCATAGTGTCCCAGTGTGCGCTAACCTAGCGTTATCATAGTGTCCCAGTG TCCGCTCACATAGCCTCATCATAGTGCCCCAGTGTACACTCACCTAGCCT CATCGTAGTGCCCGAGTGTGCACTCACCTAGACTCATCATAGTGCACCAG TGTGCACTCACCT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03098.hp2 HG03516.hp1 HG02895.hp2 HG03098.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061	3	344	0.0087	712	c.327 others(729): Show c.327+5592_327+5593insAGGTGAGTGCACACTGGTGCACTATGAT GAGTCTAGGTGAGTGCACACTCGGGCACTACGATGAGGCTAGGTGAGTGT ACACTGGGGCACTATGATGAGGCTATGTGAGCGGACACTGGGACACTATG ATAACGCTAGGTTAGCGCACACTGGGACACTATGATGAGGCCAGGTGAGT GCACTCTGGGACACTATGATGAGGCCAGGTGAGCGAGCACTGGGGCACTA TGACGAGGCTGGGTGAGCGCACACTGGAACACTATGAGGAGGCCGGGTGA GTGCACACTGGGACACTATGATGAGGTACCTGAGTGCACACTGGGGCACT ATGATGAGGTCGGGTGAGCGCACACTGGGACACTATAATGAGGCTAGGTG AGTGCACACTGGGGCACTATGATGAGGCTAGGTGAATGCACACTGGGGCA CTATGATGAGGCCAGGTGAGCGCACACTGGGGCACTATGATGAGGCTAGG TGAGCGCACACTGGGACACTATGATGAGGCTAGGTGAGCGCACACTGGGA CAGTATGATGTGGCCAGGTGAGCGCACAGTGGGACACTATGATGATGCCG GGTGAGCGCAGAGTGGGCAGTATGATGAGGCCGGGTGAGCGCTCACTGGG AAACTATGATGAGGCTAGGTGAGCGGATACTGGGGCATTATGATGAGTCT AGGTGAGTGCACACTGGGACACTATGATGAGGCC	TMEM242	ENSG00000215712.11	transcript	ENST00000400788.9	protein_coding	3/3			chr6	TogoVar
TP53AIP1_chr11_128930370_128947871	128930879	G G	GGTTAGGG others(705): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTGGGGAGGCCGGGGTT AGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTGGGG AGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCT GGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTGGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGACCAGGGGTTAG GGAGGCCAGGGTAGGGAGGCTGGGGGTTAGGAAGGCTGGGGTTAGGGAGA CCAAGGGTCAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTG GGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAAGGAGGCCGGGGT TAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC TGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTTAGGGAGGCCGGG GTTAGGGAGGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0004	1	466	0.0022	712	c.47 others(723): Show c.4711_*4712insTGGCCTCCCTAACCCCGGCCTCCCTAACCCTGGC CTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCTTAACCCTG GCCTCCCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCT CCCTAACCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCTTCC TAACCCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGTCTCCCTAAC CCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAG CCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCC CTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTAA CCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTC CCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCCTGGCCTCCCTA ACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCCAACCCC TGGCCTCCCTAACCCCAGCCTCCCTAAC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4490		chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273308	T T	TTATATAT others(705): Show TTATATATAAAAATTATATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATAAAAATTATATATA TATTATATATATAAAAATTATATATATATTATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATATTATATATATATAAAAATTATATATATA TTATATATATATAAAAATTATATATATATTATATATATATAAAAATTATA TATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTA TATATATATTATATATATATAAAAATTATATATATATTATATATATATAA AAATTATATATATATTATATATATATAAAAATTATATATATATTATATAT ATATAAAAATTATATATATATTATATATATATAAAAATTATATATATATT ATATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18948.hp1 NA18953.hp2 NA19002.hp2 NA18948.hp1 NA18953.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	3	272	0.0110	712	c.28 others(723): Show c.2873_*2874insTATATATAAAAATTATATATATATTATATATATA AAAATTATATATATATTATATATATAAAAATTATATATATATTATATATA TAAAAATTATATATATATTATATATATAAAAATTATATATATATTATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTATATATATATAAAAATTATATAT ATATTATATATATATAAAAATTATATATATATTATATATATATAAAAATT ATATATATATTATATATATATAAAAATTATATATATATTATATATATATA AAAATTATATATATATTATATATATATAAAAATTATATATATATTATATA TATATAAAAATTATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATATTATATATATATAAAAATTATATATATATTATATATATATAAA AATTATATATATATTATATATATATAAAAATTATATATATATTATATATA TATAAAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTA	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2195		chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870836	C C	CCCACACA others(705): Show CCCACACACCACCACACCCCCACACACCCCACACCCCACACACACCACAC CCCCACACCCACCACACCCCACCACACACCACACCCACACACACCCCACC CCACACCCCACCCCCCACCCCCCCCCCCCCCCCCCCCCACCACCACCACC CCCCACACACCCCACACACCCCACACACCCCACACCCCACACACCCACAC CCCACACACACCACCCACCCCCACACACACCACACACCCCACACACACCC CACACCCCCACACACACCACACCCCCCACACACACCACACCCCATACACA CCACACCCCCCCCCCCCCCCCCCCCCCCCACCCCCCCCCCCCCCACACAC CACACCCCACACACACCACACACCGCACACACACCACACCCCATACACAC CACACACCCCACACACACCACACACCCCACACACACCACACACCCCACAC ACACCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACCCCACACACACCACACACACCACACCCCACACACACCACACCCCACAC ACCCCACACACACCACACACCCCACACACACCACACACACCACACACCCC ACACACACCACACACACCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACACACCACACCCCACACACACC ACACACACCACAG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	338	0.0030	712	c.35 others(731): Show c.35+22105_*35+22106insACACACCACCACACCCCCACACACCC CACACCCCACACACACCACACCCCCACACCCACCACACCCCACCACACAC CACACCCACACACACCCCACCCCACACCCCACCCCCCACCCCCCCCCCCC CCCCCCCCCACCACCACCACCCCCCACACACCCCACACACCCCACACACC CCACACCCCACACACCCACACCCCACACACACCACCCACCCCCACACACA CCACACACCCCACACACACCCCACACCCCCACACACACCACACCCCCCAC ACACACCACACCCCATACACACCACACCCCCCCCCCCCCCCCCCCCCCCC ACCCCCCCCCCCCCCACACACCACACCCCACACACACCACACACCGCACA CACACCACACCCCATACACACCACACACCCCACACACACCACACACCCCA CACACACCACACACCCCACACACACCACACACACCACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACACACCACACCC CACACACACCACACCCCACACACCCCACACACACCACACACCCCACACAC ACCACACACACCACACACCCCACACACACCACACACACCACACACACCAC ACCCCACACACACCACACCCCACACACACCACACCCCACACACACCACAC ACACCACACCCCACACACACCACACACACCACAGCC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TWIST2_chr2_238843085_238915534	238871147	A A	ACACACAC others(705): Show ACACACACCACACACCCCACACACACCACACCCCACACACACCACACCCC ACACACACCACACCCCACACACACCACACCCTACACACACCACACACCCC ACACACACATCACACACCACACACACCACACACACCCCACACACACCACA CACACACATCACATACCACACACCCGACACACGCCACACACACACCACAC ACCCCACGCACACATCACATACCACACACAAACCACACACCCTACACACA CCACACACCCCACACACACCACACACACACACCACACACACATCACATAC CACACACAAACCACACACCCAACACACACATCACACACCACACACCCCAC ACACACATCACATACCACACACAAACCACACACCCCACACACACATCACA TACCACACACAAACCACACACCCCCACACACCCCACACACCCCACACACA CCACACACCCCACACACACACCACACACCCCACACACACATCACATACCA CACACAAACCACACACCCCACACACCCCACACACCACACACACACCACAC ACACATCACATACCACACACAAACCACACACCCTACACACACCACACACC CCACACACACCACACACCCGACACACGCCACACACACACCACACACCCCA CGCACACATCACATACCACACACAAACCACACACCCTACACACCCCACAC ACCCCACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	338	0.0030	712	c.35 others(731): Show c.35+22439_*35+22440insCACACCCCACACACACCACACCCCAC ACACACCACACCCCACACACACCACACCCTACACACACCACACACCCCAC ACACACATCACACACCACACACACCACACACACCCCACACACACCACACA CACACATCACATACCACACACCCGACACACGCCACACACACACCACACAC CCCACGCACACATCACATACCACACACAAACCACACACCCTACACACACC ACACACCCCACACACACCACACACACACACCACACACACATCACATACCA CACACAAACCACACACCCAACACACACATCACACACCACACACCCCACAC ACACATCACATACCACACACAAACCACACACCCCACACACACATCACATA CCACACACAAACCACACACCCCCACACACCCCACACACCCCACACACACC ACACACCCCACACACACACCACACACCCCACACACACATCACATACCACA CACAAACCACACACCCCACACACCCCACACACCACACACACACCACACAC ACATCACATACCACACACAAACCACACACCCTACACACACCACACACCCC ACACACACCACACACCCGACACACGCCACACACACACCACACACCCCACG CACACATCACATACCACACACAAACCACACACCCTACACACCCCACACAC CCCACACACACCACACACCACACACCCCACACACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
UCKL1_chr20_63934829_63961416	63948595	G G	GGGGATGT others(705): Show GGGGATGTGTGTGAGAGGGAGGGGGCGTGTGTGAAAGGGAGGGGCGTGTG TGAGGGAGGGGTGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGC GTGTGTGAGAGGGGGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGG AGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGTAGGGGCGTGTGT GAGAGGGAGGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAGGGAGGGG CGTGTGTGAGAGGGAGGGGGCGTGTGTGAGGGAGGGGGCGTGTGTGAGAG GGAGGGGGCGTGTGTGAGAGGTAGGGGCGTGTGTGAGGGGGGGGCGTGTG TGAGGGAGGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGAGAGGGG CGTGTGTGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGTGAGGG AGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGT GAGAGTGGGGGCGTGTGTGAGAGGGAGGGGGCGTGTGGGAGGGAGGGGGC GTGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTGAGAGG GAGGGGCGTGTGAGAGGGAGGGGCGTGTGTGAGAGGGAGGGGCGTGTGTG AGAGGGAGGGGCGTGTGTGAGAGGCAGGGGCGTGTGTGAGAGGGAGGGGG CGTGTGAGGGGGA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	356	0.0028	712	c.114 others(729): Show c.114-1953_114-1952insTCCCCCTCACACGCCCCCTCCCTCTCAC ACACGCCCCTGCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCTCC CTCTCACACACGCCCCTCCCTCTCACACGCCCCTCCCTCTCACACACGCC CCTCCCTCTCACACACGCCCCTCCCTCTCACACACGCCCCCTCCCTCCCA CACGCCCCCTCCCTCTCACACACGCCCCCACTCTCACACACGCCCCTCCC TCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCACACACACGC CCCTCCCTCTCACACACGCCCCTCCCTCACACACGCCCCTCTCTCTCACA CACGCCCCTCCCTCTCACACACGCCCCCTCCCTCACACACGCCCCCCCCT CACACACGCCCCTACCTCTCACACACGCCCCCTCCCTCTCACACACGCCC CCTCCCTCACACACGCCCCCTCCCTCTCACACACGCCCCTCCCTCTCACA CACGCCCCCTCCCTCACACACGCCCCCTCCCTCTCACACACGCCCCTACC TCTCACACACGCCCCTCCCTCTCACACACGCCCCTCCCTCTCACACACGC CCCCTCCCTCACACACGCCCCCCCCTCTCACACACGCCCCTCCCTCTCAC ACACGCCCCTCCCTCTCACACACACCCCTCCCTCACACACGCCCCTCCCT TTCACACACGCCCCCTCCCTCTCACACACATCCC	UCKL1	ENSG00000198276.16	transcript	ENST00000354216.11	protein_coding	1/14			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(705): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGAT AGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCT ATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTAT CGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	408	0.0025	712	c.53+ others(727): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTA TCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGA TAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(705): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	408	0.0025	712	c.53+ others(727): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATA GATAGATGTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VPS16_chr20_2835745_2871732	2842844	C C	CTATAGAT others(705): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAG ATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGAT GTATCTATCGATA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	408	0.0025	712	c.53+ others(727): Show c.53+2017_53+2018insTATAGATAGACATATAGATGTATCTATCTA TAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATC TATCTATAGATAGACATATAGATGTATCTATCGATAGACAGATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATC GATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATA GATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGA TGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTA TCTATCGATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATC TATCGATAGATAGATAGATGTATCTATCGATA	VPS16	ENSG00000215305.10	transcript	ENST00000380445.8	protein_coding	1/23			chr20	TogoVar
VSIG1_chrX_108040065_108084184	108041553	C C	CGTGTGTG others(705): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGTGCATGTGTACATGCA TAGAAAAAGGTCTGAGAAAAATGCTAAACTCCTGTTCCATGTGAGCCTGG GAAAGGGATTACATGTGTGAGTGAATGAATGGGACTTTTTTTCCTCTGTA TCCTTGTTTGTCCTTTGAAAACCATTTACTATCAAAATGTATTACTTTTG TAATTTTTAAGTTAAAAATGAGGGATAAATCAGATATCACATATTTCTGA AAGTTCCCAAGGAAGAATACTGGGGGCAGTAGCATATTTGTTACATTACA ATCACACCGTGCCATTGTGTGGTGTGATAGGAACAGCTTCTAATGCGTGC TATGGTGACCTTGGGAAAAGCACAGCACTTTTGAGCCTCAGTTTTCTTAT ATAGAAAATGTAGGTATACCTGACTTATTTGTTGTATTGGAAAGCTACAT GTTCATTGAACCATTGTCAATAATATTGAAAAACTGGAAACCATCTAAGA ATTTACCAATAAGAGAATGATTAAATAAATTGAGGTACATTCATATCATG AAATACCATGCAGCCTTAACATGGACAAGGTTGATCTATAGATGCAGTTG GACCCAGTGACAGAAAGAGAGAATAAAAATACCTTTTTTAAGGGAGAAAA GCAAATTATAGAACAAAATGTACAGTATTATCATCTTTATGTTTTAAAAA ACCTCGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0047	1	281	0.0036	712	c.-35 others(723): Show c.-3578_-3577insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTGT GCATGTGTACATGCATAGAAAAAGGTCTGAGAAAAATGCTAAACTCCTGT TCCATGTGAGCCTGGGAAAGGGATTACATGTGTGAGTGAATGAATGGGAC TTTTTTTCCTCTGTATCCTTGTTTGTCCTTTGAAAACCATTTACTATCAA AATGTATTACTTTTGTAATTTTTAAGTTAAAAATGAGGGATAAATCAGAT ATCACATATTTCTGAAAGTTCCCAAGGAAGAATACTGGGGGCAGTAGCAT ATTTGTTACATTACAATCACACCGTGCCATTGTGTGGTGTGATAGGAACA GCTTCTAATGCGTGCTATGGTGACCTTGGGAAAAGCACAGCACTTTTGAG CCTCAGTTTTCTTATATAGAAAATGTAGGTATACCTGACTTATTTGTTGT ATTGGAAAGCTACATGTTCATTGAACCATTGTCAATAATATTGAAAAACT GGAAACCATCTAAGAATTTACCAATAAGAGAATGATTAAATAAATTGAGG TACATTCATATCATGAAATACCATGCAGCCTTAACATGGACAAGGTTGAT CTATAGATGCAGTTGGACCCAGTGACAGAAAGAGAGAATAAAAATACCTT TTTTAAGGGAGAAAAGCAAATTATAGAACAAAATGTACAGTATTATCATC TTTATGTTTTAAAAAACCTCGTGTGTGT	VSIG1	ENSG00000101842.14	transcript	ENST00000217957.10	protein_coding		3511		chrX	TogoVar
ZNF627_chr19_11592483_11624161	11613145	C C	CCCTCCCC others(705): Show CCCTCCCCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTCCTCTCCTCCTC CCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCCCCCTTCTT CCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCTCCTCTCCT CCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCCCTCCCCTCC CCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTTCCC CTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCT CCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCTCCCCTACCCTC CTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCCTCCTCCTCCCC CTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTCCCTCTCCCTCC CCTCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCTTCCCCTCCCCT CCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTCCCCTCCCCCCT CCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCTCCTCCCCTCCT CCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCCTCCCCTCTACT CCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTCCCTCCCCTCTC CCCTTCCCCCTCA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	322	0.0031	712	c.4-1 others(725): Show c.4-1376_4-1375insCCTTCCTCATCCCCTTCCCCCTCCCCTTCTTC CTCTCCTCCTCCCTCCCCCCCTCCCCTTCCCTCCTCCCTCCCCCCTCCCC TCCCCCTTCTTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTCCTCCCCTT CCTCCTCTCCTCCTCCCTCCCCCTCCCCTCCCCCTTCCCTCCTCCCTCCC CCCTCCCCTCCCCCTTCCTCCTCCCCTTCCCCCTCCCCTCCCCCTTCCTC CTCCCCTTCCCCTTCCCCTTCCTCCTCTCCTCCTCCCTCCCCTCCCCCTT CCCTCCTCCCTCCCCTCCCCCTTCCCTCCTCCCTCCCCTCCCCCTCCCCT CCCCTACCCTCCTCCCTCCCCTTCCCTCCTCCCTCCCCCTCCCCGTCCCC TCCTCCTCCCCCTCCCCCTCCTCCCTCCCCCTCCCCTCCTCCCTCCCCTC CCTCTCCCTCCCCTCCCCTCCCCTCCCCTTCCCCTCTCTTCCTCTCCCCT TCCCCTCCCCTCCCCTCCCCCTCTCCTCCCCCTCCTCTTCCCCTCTCCTC CCCTCCCCCCTCCCCCTTCTCCCCTCTCCCCTCCCCTCCCCTTCCCTTCT CCTCCCCTCCTCCCTCCCCTCCCCATCTTCCCTCCCCTCCCCATCTTCCC TCCCCTCTACTCCCGTCACCTGTCCCTCCCCTCTCCTCCCCTCACCTGTC CCTCCCCTCTCCCCTTCCCCCTCACCTCCC	ZNF627	ENSG00000198551.10	transcript	ENST00000361113.10	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
ADGRA1_chr10_133082924_133136675	133111178	A A	AACCACCC others(706): Show AACCACCCCTCCTAATGCCTCCAGACCACCTGCCCACCACAGACACCTCC CTCCTAATCCCTCCAGACCACCTGCCTGCCATGGGCATCTCCCTCCTAAT CCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCCCCAG ACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCTCCAGACCACCTG CCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC GGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACC AGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACAACC TGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACC ACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCAC CTCCCTCCTAATCCCTCCAGACCACCTGCCTGCCATGGGCATCTCCCTCC TAATCCCTCCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCT CCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCTGCAGACCA CCTGCCCACCACGG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0274 a0001c0001t0030g0274	1	368	0.0027	713	c.401 others(730): Show c.401+8336_401+8337insACCACCCCTCCTAATGCCTCCAGACCAC CTGCCCACCACAGACACCTCCCTCCTAATCCCTCCAGACCACCTGCCTGC CATGGGCATCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACA CCTCCCTCCTAATCCCCCCAGACCACCTGCCCACCACGGGCACCTCCCTC CTAATCCCTCCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCC ACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCC TCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCCCTCCTAATC CCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGA CAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACCACCTGC CTGCCATGGGCATCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACG GGCACCTCCCTCCTAATCCCTCCAGACCACCTGCCCACCACAGACACCTC CCTCCTAATCCCTGCAGACCACCTGCCCACCACGG	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6			chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133111541	A A	AACCTGCC others(706): Show AACCTGCCCCCCCGGGAACCATCCCTCCTAATCCCACCAGACCACCTGCC CACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGG ACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACGGACACCTCC CTCCTAATCCCTCCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAAT CCCACCAGACAACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAG ACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTG CCCACCACGGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCAC AGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGACACCT CCCTCCTAATCCCACCAGACCACCTGCCCACCACGGGCACCTCCCTCCTA ATCCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCACCA GACCACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACCACCT GCCCACCACAGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCACCA CAGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACGGGCACC TCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGACACCTCCCTCCT AATCCCACCAGACC	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0345 a0001c0001t0003g0345	1	368	0.0027	713	c.401 others(730): Show c.401+8707_401+8708insCCCCGGGAACCATCCCTCCTAATCCCAC CAGACCACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAAC CTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACAACCTGCCCAC CACGGACACCTCCCTCCTAATCCCTCCAGACAACCTGCCCACCACAGGCA CCTCCCTCCTAATCCCACCAGACAACCTGCCCACCACAGGCACCTCCCTC CTAATCCCTCCAGACAACCTGCCCACCACGGGCACCTCCCTCCTAATCCC ACCAGACCACCTGCCCACCACGGACACCTCCCTCCTAATCCCACCAGACC ACCTGCCCACCACAGGCACCTCCCTCCTAATCCCACCAGACAACCTGCCC ACCACAGACACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACGGG CACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAGGCACCTCCC TCCTAATCCACCAGACCACCTGCCCACCACAGGCACCTCCCTCCTAATCC CACCAGACCACCTGCCCACCACAGACACCTCCCTCCTAATCCCACCAGAC AACCTGCCCACCACAGGCACCTCCCTCCTAATCCCTCCAGACAACCTGCC CACCACGGGCACCTCCCTCCTAATCCCACCAGACCACCTGCCCACCACAG ACACCTCCCTCCTAATCCCACCAGACCACCTGCCC	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
ADPRHL1_chr13_113394611_113458488	113418971	C C	CTCTTTTC others(706): Show CTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCC TCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCTTTTC CTTCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTTCTTCCCCTT CCCCTCCCCTTCCCTTCCTTCTTTTCCTTCCCTCCCTCCCTCCCTCCCTT CCTTCCTCCCTCCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTT CTTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTCTTCCCTCCCTCCCTCC CTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCTCCCCTTCCCTTCCTTCT TTTCCTTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCC TCCCCTTCCCTTCCTTCTTTTCCTTCCTTCACTCCCTCCTTCCTTCCTTC TTCCCTCCCTCCCTCCCTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTC TCTCCCTCCCTTCCTCTTTTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTTCTTCCCCTTCCCCT CCCCTTCCCTTCCT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0011 a0007c0009t0011	a0007c0009t0011g0121 a0007c0009t0011g0121	1	262	0.0038	713	c.106 others(732): Show c.1061+3854_1061+3855insAGGAAGGGAAGGGGAGGGGAAGGGGA AGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAG GAAGGGAGGGAGGGAGGGAAAAGAGGAAGGGAGGGAGAGAGGGAAAAGAC AGGAAGGGAGGGAGAGAGGGAGGGAGGGAGGGAGGGAAGAAGGAAGGAAG GAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAA GAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAAGGGA AGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGGAGGGAGGGA GGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGG GAGGGAGGGAAAAGACAGGAAGGGAGGGAGAGAGGGAGGGAGGGAGGGAG GGAAGAAGGAAGGAAGGAGGGAGTGAAGGAAGGAAAAGAAGGAAGGGAAG GGGAGGGGAAGGGGAAGAAAGGAAGGGAGGGAGGAAGGAAGGGAGGGAGG GAGGGAGGGAAGGAAAAGAAGGAAGGGAAGGGGAGGGGAAGGGGAAGAAA GGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGAAGGAA GGGAAGGGGAGGGGAAGGGGAAGAAAGGAAGGAAGGGAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAAGGAAAAGA	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/7			chr13	TogoVar
AHRR_chr5_316714_443285	318048	T T	TACCTCCC others(706): Show TACCTCCCCCCTCACCCTGCACCTCCCTTGCCCTGCACCTCCTCCCTCCC TCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCCCCCTCACCTCCCCCC CCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACCTCCTCCCCAGCCTCC ACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCCTCACCCTCCACCTCC CGCCCTCACCCTCCACCTCCCCCCGCACCCTCCACCTCCCCCCGCACCCT GCACCTCCCACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCCCCT CACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCCCTCCCTCTCCCCCTC ATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTCCCCCCACCTTCCACC TCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAGCCTCCACCTCCCCCC TCACCCTCCACCTCCCTTCCGCACCCTGCACCTCCCACCCTTACCCTGCA CCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCATCTCCCCCAACCCTG CACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCCCACTCA CCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCG CCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCT GCCCCCAACCCTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0009 a0004c0003t0009	a0004c0003t0009g0224 a0004c0003t0009g0224	1	268	0.0037	713	c.-37 others(724): Show c.-3782_-3781insACCTCCCCCCTCACCCTGCACCTCCCTTGCCCTG CACCTCCTCCCTCCCTCTCCCCCTCACCCTGCACCTCCCCCCTCCACTCC CCCTCACCTCCCCCCCCTTTCCACCTCCCCCCTCCACCTCCCCCCTCACC TCCTCCCCAGCCTCCACCTCCCCCCTCACCTCCCCCCTACACCTCCCCCC TCACCCTCCACCTCCCGCCCTCACCCTCCACCTCCCCCCGCACCCTCCAC CTCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCCCCCCATC TTTTACCTCCCCCCTCACCCTGCACCTCCCTCTCGCCCTGCACCTCCTCC CTCCCTCTCCCCCTCATCCTGCACCTCCCCCCTCCACGCCCCCTCACCTC CCCCCACCTTCCACCTCCCCCCTCCACCTCCCCCCTCACTTCCCCCCCAG CCTCCACCTCCCCCCTCACCCTCCACCTCCCTTCCGCACCCTGCACCTCC CACCCTTACCCTGCACCTCCCCCCATCTTTTACCTCCCTCCCACCCTGCA TCTCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTC CACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTC CCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCC CCCCACCCTCCATCTGCCCCCAACCCTGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3665		chr5	TogoVar
ARHGAP19_chr10_97217179_97297637	97251789	G G	GAAGGGAA others(706): Show GAAGGGAAGGGGAAGGGAAGGGAAGGGAAGGGGAAGGGAAAGGGAAGGGA AAGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGAAAGGGAAGGGAA AGGGAAGGGAAAGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAA GGGGAAGGGAAGGGAAGGAAAGGGGAAAGGGAAGGGGAAAAGGAAGGGAA GGGGAAGGGAAGGGGAAGGGAAGGGGAAAAGGAAGGGAAGGGAAGGGGAA GGGAAGGGAATGGGAAAAGGAAGGGGAAGGGAAAAGGAAGGGGAAGGGAA GGGGAAGGGAAAGGGAAGAAAGGAAGGGGAAGGGAAAGGGAAGGGAAGGG AAAGGGAAGGGAAAGGGAAAGGGAAGGGGAAGGGGAAGGGAAAGGGAAGG GGAAGGGAAGGGGAAGGGAAAAGTAAGGGAAAGGAGAGGGGAAGGGAAAG GGAGGGGAAGGGAAGGGGAAGGGGAAGGAAAAGGAAGGGGAAGGGAAGGG GAGGGGGAAGTGAAGGGGTAGCAAAGGGAAAGAAAGGAAAGGGAAAAGGG AAGAGAGGGAGGGAGGGAGGGAGGAAGGAAGGACGGATGGACGGACAGGA CGAAAAAAAGAGAGGGGAGGGAAGAGAGGGGAGGGGAGGGAAGAGAAGAA AAAGGGAAGGGAGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGGAGAGAGGGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0015 a0001c0002t0002g0015	1	242	0.0041	713	c.927 others(730): Show c.927+4528_927+4529insTCCCTCTCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTTCCTCCCTTCCCTTTTTCTTCTCTTCCCT CCCCTCCCCTCTCTTCCCTCCCCTCTCTTTTTTTCGTCCTGTCCGTCCAT CCGTCCTTCCTTCCTCCCTCCCTCCCTCCCTCTCTTCCCTTTTCCCTTTC CTTTCTTTCCCTTTGCTACCCCTTCACTTCCCCCTCCCCTTCCCTTCCCC TTCCTTTTCCTTCCCCTTCCCCTTCCCTTCCCCTCCCTTTCCCTTCCCCT CTCCTTTCCCTTACTTTTCCCTTCCCCTTCCCTTCCCCTTCCCTTTCCCT TCCCCTTCCCCTTCCCTTTCCCTTTCCCTTCCCTTTCCCTTCCCTTCCCT TTCCCTTCCCCTTCCTTTCTTCCCTTTCCCTTCCCCTTCCCTTCCCCTTC CTTTTCCCTTCCCCTTCCTTTTCCCATTCCCTTCCCTTCCCCTTCCCTTC CCTTCCTTTTCCCCTTCCCTTCCCCTTCCCTTCCCCTTCCCTTCCTTTTC CCCTTCCCTTTCCCCTTTCCTTCCCTTCCCTTCCCCTTCCCTTCCTTTTC CCCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTC CCTTCCCTTCCCCTTCCCTTCCCTTTCCCTTCCCTTTCCCTTCCCTTTCC CTTCCCCTTCCCTTCCCTTCCCTTCCCCTTCCCTT	ARHGAP19	ENSG00000213390.11	transcript	ENST00000358531.9	protein_coding	6/11			chr10	TogoVar
ARHGAP39_chr8_144524179_144690846	144620226	T T	TGTGTGTG others(706): Show TGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCC CGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTT AGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGTG TCCAAGGGAGCGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAG CGTGTGTGCCCGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCC CGTGTCTGTTAGCCTGTGTGTCCAAGGGAGCGTGTGTGCCCGTGTCTGTT AGCCTGTGTGTCCAAGGGAGCACGTGTGCCCGTGTGAGCCTGTGTCCCTG AGAGCATATATGCCCGTGTGCGTGAGCTTGTGTGTCCATGAGAGCATGTG TGCCTGTGTGCGTGTGAGCCTGTGCATCTGAGAGCGTGTGTGCCCATGTG TGAGCCTGTGCGTCCCTGACAGTGTGTGCCGGTGTTTGTGTGCCTGTGCG TCCCTGAGAGCGTGTCTGTGTGTGCCCGAGTGTGCGTTGAGCCTGTGTGT CCCTGAGCATGTGTGCCCGTGTGCGTGTGAGCCTGTGTGTCCCTGAGAGC GTGTGCCCATGTGAGCTTGTGTGTCCCTGAGAGAGCGTGTGTGCCCGTGT GTGAGCCTGTGTCCCTGAGAAAGTGTGTGTGCCCGTGTCTGTTAGCCTGT GTGTCCAAGGGAGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02683.hp2 HG03491.hp1 others(1): Show HG00639.hp2 HG02683.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 others(1): Show a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089	4	246	0.0163	713	c.-81 others(732): Show c.-81-14532_-81-14531insGCTCCCTTGGACACACAGGCTAACAG ACACGGGCACACACACTTTCTCAGGGACACAGGCTCACACACGGGCACAC ACGCTCTCTCAGGGACACACAAGCTCACATGGGCACACGCTCTCAGGGAC ACACAGGCTCACACGCACACGGGCACACATGCTCAGGGACACACAGGCTC AACGCACACTCGGGCACACACAGACACGCTCTCAGGGACGCACAGGCACA CAAACACCGGCACACACTGTCAGGGACGCACAGGCTCACACATGGGCACA CACGCTCTCAGATGCACAGGCTCACACGCACACAGGCACACATGCTCTCA TGGACACACAAGCTCACGCACACGGGCATATATGCTCTCAGGGACACAGG CTCACACGGGCACACGTGCTCCCTTGGACACACAGGCTAACAGACACGGG CACACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCACACACGCT CCCTTGGACACACAGGCTAACAGACACGGGCACACACGCTCCCTTGGACA CACAGGCTAACAGACACGGGCACACACGCTCCCTTGGACACACAGGCTAA CAGACACGGGCACACACGCTCCCTTGGACACACAGGCTAACAGACACGGG CACACACGCTCCCTTGGACACACAGGCTAACAGACACGGGCACACACGCT CCCTTGGACACACAGGCTAACAGACACGGGCACACAC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding	1/11			chr8	TogoVar
ARHGEF16_chr1_3449665_3486113	3477303	G G	GTCACCCC others(706): Show GTCACCCCCACACTACCCACCCCCATCACCCCACAACCCACCCCCATCAC CCCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCC ACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACAC TACCCACCCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCC ACCCCATCACCCCCACACTACCCACCCCATCACCCCACACTACCCACCCC ATCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCAT CACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCAC CCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCC ACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCAC ACTACCCACCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACC CAGGCCCATCACCCCGCTACCCACCCCATCACCCCCACGCCACCCACCCC ATCACCCCCACACCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATC ACCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCACC CCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCA CGCCGCCCACCCCA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02896.hp1 HG02897.hp2 HG01261.hp1 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0005 a0002c0003t0002g0005	3	334	0.0090	713	c.147 others(730): Show c.1474-550_1474-549insCATCACCCCACAACCCACCCCCATCACC CCCACACTACCCACCCCCATCACCCCACACTACCCACCCCCATCACCCCA CACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACCCCACACT ACCCACCCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCCA CCCCATCACCCCCACACTACCCACCCCATCACCCCACACTACCCACCCCA TCACCCCCACACTACCCACCCCCATCACCCCCACACTACCCACCCCCATC ACCCCCACACTACCCACCCCATCACCCCCACACTACCCACCCCCATCACC CCCACACTACCCACCCCATCACCCCCACACTACCCACCCCATCACCCCCA CACTACCCACCCCCATCACCCCCACACTACCCACCCCCATCACCCCCACA CTACCCACCCCATCACCCTCACTACCCACCCCATCACCCGCACACTACCC AGGCCCATCACCCCGCTACCCACCCCATCACCCCCACGCCACCCACCCCA TCACCCCCACACCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCA CCCCCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCCATCACCC CCACGCCGCCCACCCCATCACCCCCACGCCGCCCACCCCATCACCCCCAC GCCGCCCACCCCATCACCCCCACACTACCCACCCC	ARHGEF16	ENSG00000130762.15	transcript	ENST00000378378.9	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP5PB_chr1_111444464_111467773	111465203	G G	GTTTGACA others(706): Show GTTTGACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTAC ACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGG CGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCC ATTACTGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACA CATGCACACGTATGTTTATTGCGGCATTATTCACAATAGCAAAGACTTGG AACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCA CATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGT CCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTA TCGCAAGAACAAAAAACCAAACACCACATATTCTCACTCATAAGTGGGAA TTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTCGGGGGAGTGGGGAGGGATAGCATTGGGAGATATAC CTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA AAGTATAATAATAATAATAATTAAAAAAGGAAAAAAAAAAAAAAAAAAAA AAAGATTTTAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0028 a0001c0004t0011g0028	1	434	0.0023	713	c.42 others(724): Show c.4209_*4210insTTTGACAACAGGTGCTGGAGAGGATGTGGAGAAA TAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTG TGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATT TGACCCAGCCATCCCATTACTGGGTATATACCCAAATGACTATAAATCAT GCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCATTATTCACA ATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGAT TAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAA ATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCACATATTCTC ACTCATAAGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGTGGGGAGGGATAG CATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAAAGTATAATAATAATAATAATTAAAAAAGGAAAAA AAAAAAAAAAAAAAAAAAGATTTTAGAGT	ATP5PB	ENSG00000116459.11	transcript	ENST00000369722.8	protein_coding		2431		chr1	TogoVar
ATP5PB_chr1_111444464_111467773	111465203	G G	GTTTGACA others(706): Show GTTTGACAACAGGTGCTGGAGAGGATGTGGAGAAATAGGAACACTTTTAC ACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGG CGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCC ATTACTGGGTATATACCCAAATGACTATAAATCATGCTGCTATAAAGACA CATGCACACGTATGTTTATTGCGGCATTATTCACAATAGCAAAGACTTGG AACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCA CATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGT CCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTA TCGCAAGAACAAAAAACCAAACACCACATATTCTCACTCATAGGTGGGAA TTGAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGG GACTGTGGTGGGGTCGGGGGAGTGGGGAGGGATAGCATTGGGAGATATAC CTAATGCTAGATGACACGTTAGTGGGTGCAGCGCACCAGCATGGCACATG TATACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTA AAGTATAATAATAATAATAATTAAAAAAGGAAAAAAAAAAAAAAAAAAAA AAAGATTTTAGAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 NA18906.hp1 HG02257.hp1 NA18906.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0028 a0001c0004t0011g0028	2	434	0.0046	713	c.42 others(724): Show c.4209_*4210insTTTGACAACAGGTGCTGGAGAGGATGTGGAGAAA TAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTG TGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATT TGACCCAGCCATCCCATTACTGGGTATATACCCAAATGACTATAAATCAT GCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCATTATTCACA ATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGAT TAAGAAAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAA ATGATGAGTTCATGTCCTTTGTAGGGACATGGATGAAATTGGAAACCATC ATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACCACATATTCTC ACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGA ATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGTGGGGAGGGATAG CATTGGGAGATATACCTAATGCTAGATGACACGTTAGTGGGTGCAGCGCA CCAGCATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACAT GTACCCTAAAACTTAAAGTATAATAATAATAATAATTAAAAAAGGAAAAA AAAAAAAAAAAAAAAAAAGATTTTAGAGT	ATP5PB	ENSG00000116459.11	transcript	ENST00000369722.8	protein_coding		2431		chr1	TogoVar
B4GALNT4_chr11_364499_387117	375110	A A	AAGGGAGG others(706): Show AAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGA GGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAGG AAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAGGG AGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGA GGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGG AAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGG AGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGA GGGAGGAGGAAGGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0128 a0002c0004t0002g0128	1	184	0.0054	713	c.784 others(728): Show c.784-344_784-343insAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG AGGAAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAA GGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAAGGGAG GGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGG AGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGA GGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGTGGAAG GGAGGGAGGAGGAAGGGAGGGAGGTGGAAGGGAGGGAGGAGGAAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(706): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGAGGAGGGGGAGCTGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGG AGGGGGAGCAGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGG GGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGG AGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAG CTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCAGG GGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGG AGGGGAGGAGGGGGAGCTGGGAGGGGAGGAGGGGAGGAGGGGGAGCAGGG GAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAG GGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGG AGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAG GAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAG AGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0028 a0000c0006t0028	a0000c0006t0028g0079 a0000c0006t0028g0079	1	168	0.0060	713	c.-26 others(722): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCTCCCCTGCTCTCCCTCCTCCC CCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCTC CTCCCCTCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCCCCC CTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCC AGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAG CTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTC CCCCTCCTCCCCCCTCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCC CTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCT CCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCT CCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCC CCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(706): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGGGGGAGGAGGGGGAGCTGGGGAG GGGGGAGGAGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCAGGGGAGGGGG GAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGA GGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGG AGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGGG AGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGC TGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTG GGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAGCAGGGGA GGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGG GGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGGAGGGGGAGCAGGGG AGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCAGGGGAGG GGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGG AGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAG GAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGGGGAGAAG AGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	168	0.0060	713	c.-26 others(722): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC TCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCC CTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCC CAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCCAGCTCC CCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCC CTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCT CCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCT CCCCCCTCCCCTGCTCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCC CCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CNNM2_chr10_102913294_103095222	102995201	T T	TCCTCCCC others(706): Show TCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTC CTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCC CTCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCC CCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTC CCCCCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCC CTCTTCCTCTTCCTCCCCCTCCCCCTCTTCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCCTCCTCCTCTCCCTCCCCCTCCTCTTCCTCC TCCTCTTCCTCCTCCACTTCCCCTTCCTCCTCCTCCTCCCCTTCCTCCTC CTCTTCCCCTTTCTCTTCCTCCTCCTCCTCCCCTTCCTCTTCCTCCTCCT CCTCCCCTTCCTCC	intron_variant intron_variant	MODIFIER	NA18992.hp2 NA19065.hp2 NA18992.hp2 NA19065.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0146 a0001c0003t0001g0147 a0001c0003t0001g0146 a0001c0003t0001g0147	2	270	0.0074	713	c.162 others(734): Show c.1622-54503_1622-54502insCCCCCTCTTCCTCCTCCTCCCCCT CTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCC CCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTC CTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCT CCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCT TCCTCCCCCTCCCCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCC CTCTTCCTCCTCCTCCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCT CCCCCTCTTCCTCCCCCTCCCCCTCTTCCTCCCCCTCCCCCCTTCCTCCC CCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCC CCCTCCCCCCTTCCTCCCCCTCCCCCCTTCCTCCCCCTCTTCCTCTTCCT CCCCCTCTTCCTCTTCCTCCCCCTCTTCCTCTTCCTCCCCCTCCCCCTCT TCCTCTTCCTCCTCCTCCCCCTCTTCCTCCTCCTCCCCCTCCTCCTCCTC TCCCTCCCCCTCCTCTTCCTCCTCCTCTTCCTCCTCCACTTCCCCTTCCT CCTCCTCCTCCCCTTCCTCCTCCTCTTCCCCTTTCTCTTCCTCCTCCTCC TCCCCTTCCTCTTCCTCCTCCTCCTCCCCTTCCTCCCCT	CNNM2	ENSG00000148842.18	transcript	ENST00000369878.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(706): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGGCAGGCAG GAAGGGAGGGGGCAGGCAGGCAGGAAGGGAAGGGGGCAGGCAGGAAGGGA GGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCA AGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAA AGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGG GAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0002 a0002	a0002c0018 a0002c0018	a0002c0018t0001 a0002c0018t0001	a0002c0018t0001g0197 a0002c0018t0001g0197	1	344	0.0029	713	c.85- others(730): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCC TGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCC TCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCCTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCTTGCCTTCCCCCTCC CTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTG CCCCCTTCCCTTCCTGCCTGCCTGCCCCCTCCCTTCCTGCCTGCCCCCTT CCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT GCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CPNE4_chr3_131528569_132040014	131978272	T T	TATATATA others(706): Show TATATATATTTATATATATATTTATATATATTTATATATATTTATATATA TTTATATATATTTATATTTATATATATATTTTTATATATTTATATATATT TTTATATATTTATATATTTATATATATTTATATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATATATTTTTATATATTTATA TATATTTATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATATTTATATATATTTATATATATATATTTATATATA TTTATATATATATATTTATATATATTTATATATATATATTTATATATATA TTTATATATATTTATATATATATTTATATATATTTATATATATTTATATA TATATTTATATATATTTATATATATGTATATTTATATATTTATATATATT TATATATATATTTATATATTTATATATATTTATATATATATTTATATATT TATATATATTTATATATATTTATATATATTTATATATTTATATATATTTA TATATTTATATATATTTATATATATATTTATATATTTATATATATTTATA TATATATTTATATATTTATATATATTTATATATATTTATATATATTTATA TATATTTATATATA	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0062 a0001c0003t0003g0062	1	94	0.0106	713	c.-2+ others(730): Show c.-2+56294_-2+56295insTATATATAAATATATATAAATATATATA AATATATATAAATATATATAAATATATAAATATATATATAAATATATATA AATATATAAATATATATATAAATATATATAAATATATAAATATATATAAA TATATAAATATATATAAATATATATAAATATATATAAATATATAAATATA TATATAAATATATATAAATATATAAATATATATATAAATATATATAAATA TATAAATATACATATATATAAATATATATAAATATATATATAAATATATA TAAATATATATAAATATATATATAAATATATATAAATATATATATAAATA TATATATATAAATATATATAAATATATATATATAAATATATATAAATATA TATATATAAATATATATAAATATATATATAAATATATATATAAATATATA TATAAATATATATAAATATATATATAAATATATATATAAATATATATATA AATATATATATAAATATATATAAATATATAAATATATATAAATATATAAA AATATATATATAAATATATATATAAATATATATAAATATATATATAAATA TATATATAAATATATATAAATATATAAATATATAAAAATATATATAAATA TATAAAAATATATATATAAATATAAATATATATAAATATATATAAATATA TATAAATATATATAAATATATATATAAATATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89587819	A A	AGCCACAG others(706): Show AGCCACAGATACACGGCCCCCCGTGTCACCCACAGAAACACGGCCCCCGT GTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCC CCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGG CCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATAC ACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCGTGTCAGCCACAGAT ACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCAC AGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCAC CCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTG TCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCC CGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGCC CCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACG GCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATA CACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACA GATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACC CACAGATACACGGC	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0056 a0001c0005t0002g0056	1	348	0.0029	713	c.927 others(728): Show c.927+717_927+718insGCCACAGATACACGGCCCCCCGTGTCACCC ACAGAAACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCA CCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGT GTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCC CCGTGTCACCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGC CCCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCACAGATACAC GGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGAT ACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCAC AGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCAC CCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGT CAGCCACAGATACACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCCG TGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACGGCCC CCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATACACG GCCCCCCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCCACAGATA CACGGCCCCCCGTGTCACCCACAGATACACGGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14			chr16	TogoVar
DOCK8_chr9_209865_470255	400472	C C	CCTCCACC others(706): Show CCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCAG CACTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCA CCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACC TCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCAGCA CTTCCACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACC ATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCACCTC CACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACCA CCTCCACCATCACCACCACCTCCACCACCACCACCTCCACCACCAGCACT TCCACCATCACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTC CACCACCACCATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCA ATATTATCACCTTTCCTATCACCTCCAATATCACTACCTCCTCCACCATC ACCACCATCACCTCCACCACCACCACCTCCTCCACCATCACCACCTCCTT CACCATCACCATCA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	256	0.0039	713	c.323 others(732): Show c.3234+1214_3234+1215insTCCACCATCACCACCACCTCCACCAT CACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCA CCACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACC ATCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAG CATCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCA CCACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACC ACCACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCTTCACCAT CACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCAGCA TCTTCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACC ACCACCTCCACCACCACCACCACCTCCACCATCACCACCACCTCCACCAC CACCACCTCCACCACCAGCACTTCCACCATCACCACCTCCACCACCTCCA CCACCACCGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCACC ATCGCCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAA TATCACTACCTCCTCCACCATCACCACCATCACCTCCACCACCACCACCT CCTCCACCATCACCACCTCCTTCACCATCACCATCAC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
FHIT_chr3_59742277_61256452	60861213	T T	TATATATC others(706): Show TATATATCATATATGATATATATGATATATATCATATATGATATATATGA TATATATCATATATGATATATATCATATATATCATATATGATATATATCA TATATATCATATATGATATATATCATATATATCATATATGATATATATCA TATATATCATATATGATATATATCATATATGATATATATCATATCATATA TGATATATATCATATCATATATGATATATATCATATATATCATATCATAT ATGATATATATCATATATATCATATCATATATGATATATATGATATATAT GATATATCATATATATCATATATGATATATATGATATATATGATATATCA TATCATATCATATATGATATATATGATATATATGATATATCATATCATAT CATATATGATATATATGATATATCATATCATATCATATATGATATATATG ATATATATGATATATCATATATATCATATATGATATATATGATATATATG ATATATCATATATATCATATATGATATATATGATATATATGATATATCAT ATATATCATATATGATATATATGATATATATGATATATCATATATCATAT ATGATATATATGATATATATGATATATCATATATCATATATGATATATAT GATATATATGATATATCATATCATATCATATATGATATATATGATATATA TGATATATCATATC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0024 a0001c0003t0003g0024	1	46	0.0217	713	c.-11 others(734): Show c.-110-39203_-110-39202insGATATGATATATCATATATATCAT ATATATCATATATGATATGATATGATATATCATATATATCATATATATCA TATATGATATATGATATATCATATATATCATATATATCATATATGATATA TGATATATCATATATATCATATATATCATATATGATATATATGATATATC ATATATATCATATATATCATATATGATATATATGATATATCATATATATC ATATATATCATATATGATATATATGATATATCATATATATCATATATATC ATATATGATATGATATGATATATCATATATATCATATATGATATGATATG ATATATCATATATATCATATATATCATATATGATATGATATGATATATCA TATATATCATATATATCATATATGATATATATGATATATCATATATATCA TATATATCATATATGATATGATATATATGATATATATCATATATGATATG ATATATATGATATATATCATATATGATATGATATATATCATATATGATAT GATATATATCATATATGATATATATCATATATGATATATATGATATATAT CATATATGATATATATGATATATATCATATATGATATATATGATATATAT CATATATGATATATATGATATATATCATATATGATATATATCATATATAT CATATATGATATATATCATATATATCATATATGATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
FLT3_chr13_27998274_28105576	27999111	A A	ATGTATAT others(706): Show ATGTATATACATATAAATATATATGTATATACATATAAATATATATGTAT ATAAATATATATGTATGTATATTATATACATATAAATATATATGTATATA ATATATATGTATGTATATTATATACATATAAATATATATATTTATATACA TATAAATATATATTTATATACATATAAATATATATATTTATATACATATA AATATATATTTACATACATATAAATATATATTTACATACATATAAATATA TATATTTATATACATATAATACATATACATATATACATATAAATATATAT TTATATATATATAAATATATATATTTATATATATAAATATATATATTTAT ATATATATAAATATATATATATTTATATATATATAAATATATATATTTAT ATATATATAAATATATATATATTTATATATATATACATATAAATATATAT TTATATACATATAAATATATAATTATATACATATAAATATATATAATTAT ATACATATAAATATATATTTATATACATATAAATATATATATTTATATAC ATATAAATTTATATACATATAAATATATATATTTATATTTATATACATAT AAATATATATATTTATATTTATATACATATAAATATACATATAAATATAA ATATTTATATTTATATACATATAAATATAAATATTTATATTTATATACAT ATAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02976.hp1 HG01884.hp2 HG01891.hp2 HG02976.hp1	a0002 a0003 a0002 a0003	a0002c0011 a0003c0021 a0002c0011 a0003c0021	a0002c0011t0001 a0003c0021t0001 a0002c0011t0001 a0003c0021t0001	a0002c0011t0001g0089 a0003c0021t0001g0256 a0003c0021t0001g0257 a0002c0011t0001g0089 a0003c0021t0001g0256 a0003c0021t0001g0257	3	292	0.0103	713	c.49 others(724): Show c.4940_*4941insATATATATATTTATATGTATATAAATATAAATAT TTATATTTATATGTATATAAATATAAATATTTATATTTATATGTATATTT ATATGTATATAAATATAAATATATATATTTATATGTATATAAATATAAAT ATATATATTTATATGTATATAAATTTATATGTATATAAATATATATATTT ATATGTATATAAATATATATTTATATGTATATAATTATATATATTTATAT GTATATAATTATATATTTATATGTATATAAATATATATTTATATGTATAT ATATATAAATATATATATATTTATATATATATAAATATATATATTTATAT ATATATAAATATATATATATTTATATATATATAAATATATATATTTATAT ATATAAATATATATATTTATATATATATAAATATATATTTATATGTATAT ATGTATATGTATTATATGTATATAAATATATATATTTATATGTATGTAAA TATATATTTATATGTATGTAAATATATATTTATATGTATATAAATATATA TATTTATATGTATATAAATATATATTTATATGTATATAAATATATATATT TATATGTATATAATATACATACATATATATTATATACATATATATTTATA TGTATATAATATACATACATATATATTTATATACATATATATTTATATGT ATATACATATATATTTATATGTATATACA	FLT3	ENSG00000122025.15	transcript	ENST00000241453.12	protein_coding		4162		chr13	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(706): Show TCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCC CTTTCCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCC CTTCCCCCCTCTCCCTCCCTCCCCTTCCCCCCCTCTCCCTCCCTACCCTC TCTCCCCCCTCTCCCTCCCTCCCCTCTCACCCCCCTCCCTCCCCTCTCTT CCCTCTCCCCCTCTCTCTCCCTCCCTCTCCCTCCCCCTCCCTCCCTCTCC CTCTCTCCCCCTCTCCCCCTCTCCCTCTTTCTCCTTCCCGCTCCCTCTCT CCCCTTTCTCCCTCTCTCTCCCTCCCCCTCTTTCTCCTTCCCGCTCCCTC TCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCCTCTCTCCCCTCTCTC CATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCTCCCCCCCTCTCCTTC TCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCCCCCTGCCCTCTCTCC CCCCTCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCCTCTCTCCCCCTCC TTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCCCCGCCCTTTCCCT CCCTCTCCCTCCCTCTCCCTCTCCCCCCTCCCCCCTCTCCCTCTCCCCCC TCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACCCTCTGTCCCC CTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0099 a0002c0006t0001g0099	1	230	0.0044	713	c.126 others(730): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGGAGAGGGAG AGGGGGGAGGGGGGAGAGGGAGAGGGAGGGAGAGGGAGGGAAAGGGCGGG GGAGAGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAG GGAGGGGAAGAGGGGGAGGGGGGAGAGAGGGAGGGGGGAGAGAGGGCAGG GGGAGAGAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGG GAGAGGGGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAG AGGGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAG GAGAAAGAGGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGG AAGGAGAAAGAGGGAGAGGGGGAGAGGGGGAGAGAGGGAGAGGGAGGGAG GGGGAGGGAGAGGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGG AGGGGGGTGAGAGGGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGG AGAGGGGGGGAAGGGGAGGGAGGGAGAGGGGGGAAGGGGAGGGAGGGAGA GGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGG GGAGAGAGGGGAGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GABRB3_chr15_26538552_26778066	26716845	C C	CACAGCCC others(706): Show CACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGAGGA CCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCC CAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCAC CCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCT GGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAATGA CAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACC TCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCA GCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCC AACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGCTCTGG GGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCAAATGACA GCCCAGCTCTGAGGACCTCCACCAAATGACAGCCCAGCTCTGAGGACCTC CACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCTAGC TCTGGGGACCTCCACCCAACCACAGCCCAGCTCTGAGGACCTCCACCCAA CCACAGCCCAGCTCTGAGGACCTCCACCCAACCACAGCCCAGCTCTGAGG ACCTCCACCAAATG	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	204	0.0049	713	c.240 others(732): Show c.240+55556_240+55557insCATTTGGTGGAGGTCCTCAGAGCTGG GCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGT CCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTGTGG TTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGA GCTGGGCTGTCATTTGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTGGTG GAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGC TGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCC TCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATT TGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGC TGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTGGGTGGA GGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCCCAGAGCTAGGCTG TGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTC AGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGTCATTTG GTGGAGGTCCTCAGAGCTGGGCTGTGGTTGGGTGGAGGTCCTCAGAGCTA GGCTGTGGTTGGGTGGAGGTCCTCAGAGCTGGGCTGT	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	3/8			chr15	TogoVar
IFT140_chr16_1505427_1617072	1599456	T T	TCCGGGAG others(706): Show TCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAG GAGCCCCTCAGCCCGGCCAGCCACCCCGTCCGGGAGGGAGATGGGGGGGT CAGCCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGATGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGTCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGGGGCCAGCCCCCCTGCCCGGCCAGCCGCC CCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGT GAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GGTCGGCCCCCCGC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0307 a0001c0001t0002g0307	1	334	0.0030	713	c.369 others(730): Show c.369+2913_369+2914insGCGGGGGGCCGACCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGTGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGG CAGGGGGGCTGGCCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCGGGGGGCCGACACCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGG CGGGGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCT CACCTCCCAGACGGGGCGGCTGGCCGGACGGAGGGCTGACCCCCCCACCT CCCTCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCATCTC CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGGCTGACCCCCCCATCTCC CTCCCGGACGGGGTGGCTGGCCGGGCTGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
LHPP_chr10_124456823_124619141	124471471	A A	ATATTTTA others(706): Show ATATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATAT TTATATATATTTATGTATATTTATATATATTTATATATTTATGTATATAT TTATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTAT TTATATATATATTTATATGTATTTATATATATTTATATATTTATATGTAT TTATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTA TGTATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATTTATATATATATTTATATATATATTTATATATATATTATTTATATAT ATATTTATATATAT	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0064 a0001c0001t0003g0064	1	260	0.0039	713	c.125 others(730): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATAT TTATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAAT TTATATATATTTATATGTATTTATATATATATTTATATGTATTTATATAT ATTTATATATTTATATGTATTTATACATATATATTTATATGTATTTATAT ATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATTTATATATATTTATATATATATTTATATATATATTTA TATATATATTATTTATATATATATTTATATATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LHPP_chr10_124456823_124619141	124471471	A A	ATATTTTA others(706): Show ATATTTTATATATATTTATATATATATAAATTTTTTTATATTTATATATT TTTTATATATTTATATATATTACATATATTTTTATATTTTATATATATTT ATATATTTTATATATTTATATATTTTTTATATATTTATATATTTATATAT ATATTTATATATATTTATGTATATTTATATATATATTTATATATATTTAT GTATATTTATATATATATTTATATATATTTATGTATATTTATATATATAT TTATATATATTTATGTATATTTATATATATTTATATATTTATGTATATAT TTATATATATTTATATATTTATGTATAAATTTATATATATTTATATGTAT TTATATATATATTTATATGTATTTATATATATTTATATATTTATATGTAT TTATACATATATATTTATATGTATTTATATATATTTATATATATTTTTTA TGTATTTATATATATTTATATATATATTTATATATATTTATATATATATT TATATATATTTATATATATATTTATATATATTTATATATATATTTATATA TATATTTATATATATTTATATATATATTTATATATATTTATATATATTTA TATATATATTTATATATATTTATATATATATTTATATATATATTTATATA TATTTATATATATTTATATATATATTTATATATATATTTATATATATATT ATTTATATATATAT	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	260	0.0039	713	c.125 others(730): Show c.125+9485_125+9486insATTTTATATATATTTATATATATATAAA TTTTTTTATATTTATATATTTTTTATATATTTATATATATTACATATATT TTTATATTTTATATATATTTATATATTTTATATATTTATATATTTTTTAT ATATTTATATATTTATATATATATTTATATATATTTATGTATATTTATAT ATATATTTATATATATTTATGTATATTTATATATATATTTATATATATTT ATGTATATTTATATATATATTTATATATATTTATGTATATTTATATATAT TTATATATTTATGTATATATTTATATATATTTATATATTTATGTATAAAT TTATATATATTTATATGTATTTATATATATATTTATATGTATTTATATAT ATTTATATATTTATATGTATTTATACATATATATTTATATGTATTTATAT ATATTTATATATATTTTTTATGTATTTATATATATTTATATATATATTTA TATATATTTATATATATATTTATATATATTTATATATATATTTATATATA TTTATATATATATTTATATATATATTTATATATATTTATATATATATTTA TATATATTTATATATATTTATATATATATTTATATATATTTATATATATA TTTATATATATATTTATATATATTTATATATATTTATATATATATTTATA TATATATTTATATATATATTATTTATATATATATT	LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(706): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCACTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA18969.hp1 NA18979.hp1 others(1): Show HG03927.hp2 NA18969.hp1 NA18979.hp1 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0005 a0001c0004 a0003c0005	a0001c0004t0002 a0003c0005t0002 a0003c0005t0028 a0001c0004t0002 a0003c0005t0002 a0003c0005t0028	a0001c0004t0002g0202 a0003c0005t0002g0046 a0003c0005t0002g0113 others(1): Show a0001c0004t0002g0202 a0003c0005t0002g0046 a0003c0005t0002g0113 a0003c0005t0028g0076	4	296	0.0135	713	c.368 others(730): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGTGGCCCGGGTATGTAGTAGGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGTATGTAGTAA GTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGT AAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTA GTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(706): Show CCACTTACTTACTACATACCCGGGCCACTTACTTACTACATACCCGGGCC ACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACATACC CGGGCCACTTACTTACTACATACCCGGGCCACGTACTTACTACATACCGG GCCACTTACTTACTTACTACATACCCGGGCCACTTACTTACTTACTACAT ACCCGGGCCACTTACTTACTACATACCCGGGCCACTTACTTACCTACTAC ATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACC TACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTA CTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGC CGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATAC CCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACT ACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTA CCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCT TACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGG GCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACAT ACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0043 a0002c0002t0010g0043	1	296	0.0034	713	c.368 others(730): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAG TAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGTATGTAGTAA GTACGTGGCCCGGGTATGTAGTAAGTAAGTGGCCCGGGTATGTAGTAAGT AAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTAAGTGGCCCGGGTATGTA GTAAGTAAGTGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(706): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGC GGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGA TCACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCG TCTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTA ATCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCA TAGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCA ATAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAG CCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATG AAGAGCTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTG CCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGA TTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAG ACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTG ATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	418	0.0024	713	c.23 others(724): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGT GGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAGA GTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCACG CCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAGC CAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCCC AAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTTT TTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTC ATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(706): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGAT CACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAA TCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCAT AGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAA TAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAG CCCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATG AAGAGCTCAGCTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTG CCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGA TTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAG ACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTG ATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 NA20300.hp2 HG02148.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0021 a0001c0001t0017 a0001c0001t0021	a0001c0001t0017g0174 a0001c0001t0021g0045 a0001c0001t0017g0174 a0001c0001t0021g0045	2	418	0.0048	713	c.23 others(724): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCATT CCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTC ATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(706): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCG GTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGAT CACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGT CTCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAA TCCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCAT AGGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAA TAGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGC CCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGA AGAGCTCAGCTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTG CCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGA TTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAG ACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTG ATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01123.hp2 HG02132.hp1 others(24): Show HG01109.hp2 HG01123.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02559.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG03225.hp2 HG03704.hp2 NA18941.hp2 NA18942.hp2 NA18957.hp1 NA18959.hp1 NA18973.hp2 NA18999.hp1 NA19002.hp1 NA19007.hp2 NA19060.hp1 NA19063.hp2 NA19091.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 others(5): Show a0001c0001t0004 a0001c0001t0010 a0001c0001t0011 a0001c0001t0026 a0001c0001t0036 a0001c0001t0037 a0001c0001t0070 a0001c0001t0072	a0001c0001t0004g0005 a0001c0001t0004g0034 a0001c0001t0004g0051 others(14): Show a0001c0001t0004g0005 a0001c0001t0004g0034 a0001c0001t0004g0051 a0001c0001t0004g0094 a0001c0001t0004g0095 a0001c0001t0004g0163 a0001c0001t0004g0233 a0001c0001t0010g0035 a0001c0001t0010g0090 a0001c0001t0010g0129 a0001c0001t0011g0017 a0001c0001t0011g0183 a0001c0001t0026g0092 a0001c0001t0036g0037 a0001c0001t0037g0091 a0001c0001t0070g0089 a0001c0001t0072g0228	27	418	0.0646	713	c.23 others(724): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCAT TCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTT TTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAG TGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGAG AGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCAC GCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTAG CCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTCC CAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTTT TTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTC ATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MKNK2_chr19_2032471_2056244	2037237	G G	GGCCTCCC others(706): Show GGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGCATCCGGCTGA TATCCTGTCTTAAAAAAAAAAAAAAAAAAAAAAAAAAGGGCAGGGCGCGG TGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGAGCAGATC ACAAGGTCAGGATTTCGAGACCAGCCTGGCTAATATGGTGAAACCCCGTC TCTACTAAAAATACAAAAATTAGCCAGGCGTGGTGGCACATGCCTGTAAT CCCAGCTACTCGGGAAGCTGAGGCAGACTCTCTTGAACCCGGGAGGCATA GGTTGCAGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAAT AGAGCAAGACTCCGTTTCAAAAAAAAAAAAAAAAAAAAAGGCAGCTGAGC CCTGCAATGGAGTCACCCCAGCTCGCAGGAATGAGGCCACCTGTGTATGA AGAGCTCAGCTTTTTTTTTTTTTTTTTTTTTGAGGTGGACTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCATTGCAAACTCTG CCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGA TTACAGGTGTGCACCATCACGCCGGGCTAATTTTTGTATTTTTAGTAGAG ACAGGGTTTCACCGTGTTTATTAGGCTGGTCTAGAACTGCTGACCTCGTG ATCTGCCCGCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01978.hp2 HG01346.hp1 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0165 a0001c0001t0005g0025 a0001c0001t0005g0165	2	418	0.0048	713	c.23 others(724): Show c.2375_*2376insAGAGGCGGGCAGATCACGAGGTCAGCAGTTCTAG ACCAGCCTAATAAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAA TTAGCCCGGCGTGATGGTGCACACCTGTAATCCCAGCTACTCAGGAGGCT GAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGTTTGCAATGAGCCGA GATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGAGTCCACCTCA AAAAAAAAAAAAAAAAAAAAGCTGAGCTCTTCATACACAGGTGGCCTCAT TCCTGCGAGCTGGGGTGACTCCATTGCAGGGCTCAGCTGCCTTTTTTTTT TTTTTTTTTTTTGAAACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCA GTGGCGCGATCTTGGCTCACTGCTGCAACCTATGCCTCCCGGGTTCAAGA GAGTCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCATGTGCCACCA CGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATATTA GCCAGGCTGGTCTCGAAATCCTGACCTTGTGATCTGCTCGCCTCGGCCTC CCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCCTGCCCTTTTTTT TTTTTTTTTTTTTTTTTTTAAGACAGGATATCAGCCGGATGCAGTGGCTC ATGCCTGTAATCCCAGCACTTTGGGAGGC	MKNK2	ENSG00000099875.16	transcript	ENST00000250896.9	protein_coding		233		chr19	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(706): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGAAGGC GGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGGAGGGGGAAAAGGGG CGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGTGGGGGGA AGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGT GAGGGGAGGATGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA GGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGAGAGG GAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGAAGGGAGG GAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGG AGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGG GGAGGGAAGGGAGGGAGAGGGAGGGGGAGGGAAGGGAGGGAGGGGAGGGG GAGGGAGGGGAGGGGAGTGGAGGGGAGGGGGAGGGGGAGGGAGGGGAGGG GAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAGG GGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0250 a0001c0001t0006g0250	1	272	0.0037	713	c.250 others(728): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCCCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCC CTTCCCTCCCCCTCCCTCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTC CCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCC CCTCCACTCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCC CTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCC CCCTCCCCTCCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTC CCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTC CCCCTTCCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCC CCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCC CTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(706): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCAAGGAGGGAGGTGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCC GCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0243 a0001c0014t0001g0243	1	256	0.0039	713	c.241 others(732): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGC GGGGGGGCTGACCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGGCCG GGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGG GCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCC TCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(706): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCAAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCC GCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0230 a0001c0007t0001g0230	1	256	0.0039	713	c.241 others(732): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGC GGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTTGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537879	G G	GGCCGCCC others(706): Show GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCTG TCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGCTGGGCCAGCCGCCCCGT CTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCCACCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCTCCGCCCGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGC CCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCCAGGAGGGAGGTGGGGGGGGGGGTCAGCCCCCCCGCCCGGACAGCC GCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG06807.hp2 HG00280.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0006 a0001c0001t0002 a0001c0003t0006	a0001c0001t0002g0236 a0001c0003t0006g0221 a0001c0001t0002g0236 a0001c0003t0006g0221	2	256	0.0078	713	c.241 others(732): Show c.241+14226_241+14227insTGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGATGGGGCGGCTGTCCGGGC GGGGGGGCTGACCCCCCCCCCCACCTCCCTCCTGGACGGGGCGGCTGGCC GGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCG GGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCC CTCACCTCCCAGACGGGGCGGCTGGCCGGGCGGAGGGCTGACCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGTGGCTGGCCGGGTGGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTG GCCCAGCGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar

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Search Results (Total: 8931 hits)