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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
GAS6_chr13_113815549_113869076	113826577	G G	GCCGGCCT others(200): Show GCCGGCCTTGCAGGCACCTTCTCTCCCCAGCCTCCCGGCGCCAGCCTCGG CTTCGCGGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGGCCTTGCAGGCA CCTTCTCTCCCCAGCCTCCCGGCGCCAGCCTCGGCTTCGCGGGCACCTTC TCTCCCCGGCCTCCCGGCGCCGGCCTTGCAGGCACCTTCTCTCCCCGGCC TCCTGGCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0142 a0001c0001t0004g0142	1	143	0.0070	207	c.147 others(224): Show c.1477+418_1477+419insTGCCAGGAGGCCGGGGAGAGAAGGTGCC TGCAAGGCCGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCCGCGAAGCCGA GGCTGGCGCCGGGAGGCTGGGGAGAGAAGGTGCCTGCAAGGCCGGCGCCG GGAGGCCGGGGAGAGAAGGTGCCCGCGAAGCCGAGGCTGGCGCCGGGAGG CTGGGGAGAGAAGGTGCCTGCAAGGCCGG	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GAS6_chr13_113815549_113869076	113826657	C C	CGGCCTCG others(200): Show CGGCCTCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCAGCCTCGGCT TCGCAGGCACCTTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCACC TTCTCTCCCCGGCCTCCCGGCGCCGGCCTCGCAGGCACCTTCTCTCCCCG GCCTCCCGGCGCCGGCCTCGGCTTCGCGGGCACCTTCTCTCCCCGGCCTC CTGGCACT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0036 a0001c0003t0001g0036	1	143	0.0070	207	c.147 others(224): Show c.1477+338_1477+339insAGTGCCAGGAGGCCGGGGAGAGAAGGTG CCCGCGAAGCCGAGGCCGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGC GAGGCCGGCGCCGGGAGGCCGGGGAGAGAAGGTGCCTGCGAGGCCGGCGC CGGGAGGCCGGGGAGAGAAGGTGCCTGCGAAGCCGAGGCTGGCGCCGGGA GGCCGGGGAGAGAAGGTGCCTGCGAGGCC	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	12/14			chr13	TogoVar
GLOD4_chr17_754330_787280	762420	G G	GGCCTGCA others(200): Show GGCCTGCACCTACTCAGTGCGTGATCTTCAGGGATGAAGGGGAATAATTT CATCACCATCCAGGCCCCGGCCGGCACCTACTCAGTGCGTGATCTTCAGG GATGAAGGGGAATAATTTCATCACCATCCAGGCCCCGGCCGGCACCTACT CAGTGCGTGATCTTCAGGGATGAAGGGGAATAATTATTTCATCACCATCC AGGCCCCT	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	420	0.0024	207	c.832 others(224): Show c.832-2389_832-2183dupAGGGGCCTGGATGGTGATGAAATAATTA TTCCCCTTCATCCCTGAAGATCACGCACTGAGTAGGTGCCGGCCGGGGCC TGGATGGTGATGAAATTATTCCCCTTCATCCCTGAAGATCACGCACTGAG TAGGTGCCGGCCGGGGCCTGGATGGTGATGAAATTATTCCCCTTCATCCC TGAAGATCACGCACTGAGTAGGTGCAGGC	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GPER1_chr7_1083113_1098810	1089920	T T	TAAAAATA others(200): Show TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GTTACTGGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0076 a0001c0001t0005g0076	1	446	0.0022	207	c.-32 others(226): Show c.-322-1480_-322-1479insCAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGTTACTGGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAATA	GPER1	ENSG00000164850.16	transcript	ENST00000397088.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr7	TogoVar
GPR137B_chr1_236137539_236213907	236186228	A A	ATATAATA others(200): Show ATATAATAATATATATAATATATAATATATATTATATATAATAATATAAA TAATATATAATATATATTATATATAATAATATAAATAATATATAATATAT ATTATATATAATAATATAAATAATATATAATATATATTATATATAATAAT ATAAATAATATATAATATATATTATATATAATAATATAAATAATATATAA TATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG02615.hp1 HG00140.hp1 HG00735.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0043 a0001c0001t0001g0284 a0001c0001t0012g0265 a0001c0001t0001g0043 a0001c0001t0001g0284 a0001c0001t0012g0265	3	386	0.0078	207	c.966 others(224): Show c.966+2322_966+2323insTATAATAATATATATAATATATAATATA TATTATATATAATAATATAAATAATATATAATATATATTATATATAATAA TATAAATAATATATAATATATATTATATATAATAATATAAATAATATATA ATATATATTATATATAATAATATAAATAATATATAATATATATTATATAT AATAATATAAATAATATATAATATATATT	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6			chr1	TogoVar
GPR137B_chr1_236137539_236213907	236186228	A A	ATATAATA others(200): Show ATATAATAATATATATAATATATAATATATATTATATATAATAATATATA TAATATATAATATATATTATATATAATAATATAAATAATATATAATATAT ATTATATATAATAATATAAATAATATATAATATATATTATATATAATAAT ATAAATAATATATAATATATATTATATATAATAATATAAATAATATATAA TATATATT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01358.hp1 HG02683.hp2 HG01346.hp2 HG01358.hp1 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0307 a0001c0001t0001g0194 a0001c0001t0001g0208 a0001c0001t0001g0307	3	386	0.0078	207	c.966 others(224): Show c.966+2322_966+2323insTATAATAATATATATAATATATAATATA TATTATATATAATAATATATATAATATATAATATATATTATATATAATAA TATAAATAATATATAATATATATTATATATAATAATATAAATAATATATA ATATATATTATATATAATAATATAAATAATATATAATATATATTATATAT AATAATATAAATAATATATAATATATATT	GPR137B	ENSG00000077585.14	transcript	ENST00000366592.8	protein_coding	5/6			chr1	TogoVar
GPR157_chr1_9095305_9134102	9116281	A A	AATTATAT others(200): Show AATTATATTATATATATTATATTATATATAATTATATTATATATTATATG TAATATAAATATATATAATTATATTATATATATTATATGTAATATAATTA TATATATTTATATTATATATTATATATAATATAATTATATATATAATTAT AATATATATTATATATAATATAATTATATATATAATTTATATATATTATA TATAATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0085 a0002c0002t0012 a0002c0002t0085	a0002c0002t0012g0162 a0002c0002t0085g0161 a0002c0002t0012g0162 a0002c0002t0085g0161	2	404	0.0050	207	c.384 others(224): Show c.384-4793_384-4792insATATTATATATAATATATATAAATTATA TATATAATTATATTATATATAATATATATTATAATTATATATATAATTAT ATTATATATAATATATAATATAAATATATATAATTATATTACATATAATA TATATAATATAATTATATATATTTATATTACATATAATATATAATATAAT TATATATAATATAATATATATAATATAAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GRK4_chr4_2958571_3045760	2961219	T T	TAGTAACT others(200): Show TAGTAACTATATTAATATTATAGTTAGTATATATTAATATATAGTAACTA TATTAATAATATAGTTAGTATATTAATATATAGTAACTATATTAATAATA TAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATATTAA TATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTAAC TATATTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp1 NA20905.hp1 NA21309.hp1 NA19043.hp1 NA20905.hp1 NA21309.hp1	a0008 a0008	a0008c0008 a0008c0008	a0008c0008t0004 a0008c0008t0004	a0008c0008t0004g0008 a0008c0008t0004g0009 a0008c0008t0004g0010 a0008c0008t0004g0008 a0008c0008t0004g0009 a0008c0008t0004g0010	3	268	0.0112	207	c.-28 others(218): Show c.-2852_-2851insAGTAACTATATTAATATTATAGTTAGTATATATT AATATATAGTAACTATATTAATAATATAGTTAGTATATTAATATATAGTA ACTATATTAATAATATAGTATATTAATATATAGTAACTATATTAATAATA TAGTTAGTATATTAATATATAGTAACTATATTAATAATATAGTTAGTATA TTAATATATAGTAACTATATTAA	GRK4	ENSG00000125388.20	transcript	ENST00000398052.9	protein_coding		2351		chr4	TogoVar
GRM5_chr11_88499642_89070982	88687530	A A	ACACACAT others(200): Show ACACACATATATATTATATATATATTATATATATATATTATATATATATT ATATATATATTATATATATATATTATATATATATTATATATATATATATA TATATATTATATATATATTATATATATATATATTATATATATATTATATA TATATTATATATATATTATATATATATTATATATATAATATATATATAAT ATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0014 a0001c0001t0007g0014	1	184	0.0054	207	c.912 others(226): Show c.912-34128_912-34127insATATATATATTATATATATATTATAT ATATAATATATATATAATATATATATAATATATATATAATATATATATAA TATATATATATATAATATATATATAATATATATATATATATATATATAAT ATATATATAATATATATATATAATATATATATAATATATATATAATATAT ATATATAATATATATATAATATATATGTGTG	GRM5	ENSG00000168959.15	transcript	ENST00000305447.5	protein_coding	3/9			chr11	TogoVar
GRTP1_chr13_113319163_113369130	113346818	A A	AGTGGACC others(200): Show AGTGGACCCGGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGATCTC TGTGGCCGAGAGCAGACCCAGGAGGACCTCTGTGGCTGAGAGTGGACCTG GGAGGACCTCTGTGGCAAAGAGCAGACCCGGGAGGACCTCTGTGGCCGAG AGCAGACCCAGGAGGACCTCTGTGGCTGAGAGCAGACCCAGGAGGATCTC TGTGGCTG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	288	0.0035	207	c.466 others(224): Show c.466-1860_466-1859insCAGCCACAGAGATCCTCCTGGGTCTGCT CTCAGCCACAGAGGTCCTCCTGGGTCTGCTCTCGGCCACAGAGGTCCTCC CGGGTCTGCTCTTTGCCACAGAGGTCCTCCCAGGTCCACTCTCAGCCACA GAGGTCCTCCTGGGTCTGCTCTCGGCCACAGAGATCCTCCTGGGTCTGCT CTCAGCCACAGAGGTCCTCCCGGGTCCAC	GRTP1	ENSG00000139835.14	transcript	ENST00000375431.9	protein_coding	4/7			chr13	TogoVar
GTPBP6_chrX_299759_323796	315827	C C	CACACAAA others(200): Show CACACAAACACACAGTAAATACATCCCGACAGGGACAGACACAGACACAC ACACAGAGACACACACAAACACAGTAAACACATGCTGGCAGGGACACAAA CACATACACACGCAGACACACACACACACACACAAACACACAGTAAATAC ATCCCGACAGGGACAGACACAGACACACACACAGAGACACACACAGAGAC ACACACAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01123.hp2 HG00741.hp1 HG01123.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0001 a0002c0002t0001 a0001c0003t0001 a0002c0002t0001	a0001c0003t0001g0072 a0002c0002t0001g0114 a0001c0003t0001g0072 a0002c0002t0001g0114	2	155	0.0129	207	c.488 others(222): Show c.488-529_488-528insTTGTGTGTGTCTCTGTGTGTGTCTCTGTGT GTGTGTCTGTGTCTGTCCCTGTCGGGATGTATTTACTGTGTGTTTGTGTG TGTGTGTGTGTGTCTGCGTGTGTATGTGTTTGTGTCCCTGCCAGCATGTG TTTACTGTGTTTGTGTGTGTCTCTGTGTGTGTGTCTGTGTCTGTCCCTGT CGGGATGTATTTACTGTGTGTTTGTGT	GTPBP6	ENSG00000178605.14	transcript	ENST00000326153.10	protein_coding	2/9			chrX	TogoVar
GUCY1A2_chr11_106669019_107023476	106709823	A A	ACACGTAT others(200): Show ACACGTATAGAATATATAGTTATATACACGTATAGAATATATAGTTATAT ATTATATACACGTATAGAATATATAGTTATATACACGTATAGAATATATA GTTATATACACGTATAGAATATATAGTTATATATTATATACACGTATAGA ATATATAGTTATATACACGTATAGAATATATAGTTATATACACGTATAGA ATATATAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03834.hp2 HG00099.hp2 HG03834.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0198 a0001c0002t0002g0201 a0001c0002t0002g0198 a0001c0002t0002g0201	2	256	0.0078	207	c.183 others(226): Show c.1837-1158_1837-1157insCTATATATTCTATACGTGTATATAAC TATATATTCTATACGTGTATATAACTATATATTCTATACGTGTATATAAT ATATAACTATATATTCTATACGTGTATATAACTATATATTCTATACGTGT ATATAACTATATATTCTATACGTGTATATAATATATAACTATATATTCTA TACGTGTATATAACTATATATTCTATACGTG	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	6/7			chr11	TogoVar
HELZ2_chr20_63553086_63579239	63566650	C C	CGACAAGG others(200): Show CGACAAGGAGAGGGCACCCCCACCAAGCTCGGGGATGAACGCAGGACGCA GTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCG GGGATGAGCGCAGGGCGCAGTGAGGACTGGGCCACCCCCGACAAGGAGAC GGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGG CCACCCCA	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG01884.hp2 others(30): Show HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02615.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG06807.hp2 NA18906.hp2 NA19043.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp1	a0004 a0031 a0032 others(5): Show a0004 a0031 a0032 a0033 a0036 a0086 a0089 a0090	a0004c0004 a0004c0008 a0004c0122 others(10): Show a0004c0004 a0004c0008 a0004c0122 a0004c0125 a0004c0127 a0004c0128 a0031c0036 a0032c0038 a0033c0034 a0036c0042 a0086c0123 a0089c0119 a0090c0130	a0004c0004t0001 a0004c0004t0013 a0004c0004t0015 others(25): Show a0004c0004t0001 a0004c0004t0013 a0004c0004t0015 a0004c0004t0016 a0004c0004t0026 a0004c0004t0043 a0004c0004t0045 a0004c0004t0046 a0004c0004t0055 a0004c0004t0056 a0004c0008t0013 a0004c0008t0014 a0004c0008t0015 a0004c0008t0016 a0004c0008t0025 a0004c0008t0041 a0004c0122t0075 a0004c0125t0026 a0004c0127t0110 a0004c0128t0001 a0031c0036t0002 a0031c0036t0036 a0032c0038t0025 a0033c0034t0068 a0036c0042t0002 a0086c0123t0074 a0089c0119t0008 a0090c0130t0013	a0004c0004t0001g0247 a0004c0004t0013g0025 a0004c0004t0015g0265 others(26): Show a0004c0004t0001g0247 a0004c0004t0013g0025 a0004c0004t0015g0265 a0004c0004t0016g0026 a0004c0004t0026g0027 a0004c0004t0043g0096 a0004c0004t0045g0267 a0004c0004t0046g0263 a0004c0004t0055g0268 a0004c0004t0056g0266 a0004c0008t0013g0008 a0004c0008t0013g0102 a0004c0008t0014g0245 a0004c0008t0015g0071 a0004c0008t0016g0072 a0004c0008t0025g0060 a0004c0008t0041g0061 a0004c0122t0075g0246 a0004c0125t0026g0269 a0004c0127t0110g0255 a0004c0128t0001g0248 a0031c0036t0002g0219 a0031c0036t0036g0226 a0032c0038t0025g0063 a0033c0034t0068g0105 a0036c0042t0002g0155 a0086c0123t0074g0218 a0089c0119t0008g0249 a0090c0130t0013g0262	33	390	0.0846	207	c.251 others(224): Show c.2514+193_2514+194insTGGGGTGGCCCAGTCCTCACTGAGTCCT GCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCGGGGGTGGC CCAGTCCTCACTGCGCCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCG TCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCATCCCC GAGCTTGGTGGGGGTGCCCTCTCCTTGTC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HELZ2_chr20_63553086_63579239	63566650	C C	CGACAAGG others(200): Show CGACAAGGAGAGGGCACCCCCACCAAGCTCGGGGATGAACGCAGGACGCA GTGAGGACTGGGCCACCCCCGACAAGGAGACGGCACCCCCACCAAGCTCG GGGATGAGCGCAGGGCGCAGTGAGGACTGGGCCACCCCTGACAAGGAGAC GGCACCCCCACCAAGCTCGGGGATGAGCGCAGGACTCAGTGAGGACTGGG CCACCCCA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp2 HG03579.hp1 HG02055.hp2 HG02630.hp2 HG03579.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0020 a0004c0004t0049 a0004c0004t0020 a0004c0004t0049	a0004c0004t0020g0024 a0004c0004t0049g0264 a0004c0004t0020g0024 a0004c0004t0049g0264	3	390	0.0077	207	c.251 others(224): Show c.2514+193_2514+194insTGGGGTGGCCCAGTCCTCACTGAGTCCT GCGCTCATCCCCGAGCTTGGTGGGGGTGCCGTCTCCTTGTCAGGGGTGGC CCAGTCCTCACTGCGCCCTGCGCTCATCCCCGAGCTTGGTGGGGGTGCCG TCTCCTTGTCGGGGGTGGCCCAGTCCTCACTGCGTCCTGCGTTCATCCCC GAGCTTGGTGGGGGTGCCCTCTCCTTGTC	HELZ2	ENSG00000130589.16	transcript	ENST00000467148.2	protein_coding	7/19			chr20	TogoVar
HIPK4_chr19_40374271_40395181	40377359	A A	ATGGGGGG others(200): Show ATGGGGGGGCACAGGCAGAGGGGTCAGGGCTGGGATGGAGGAGGTACAGG CAGAGGGGTCAGGGCTGGGATGGAGGAGGTACAGGCAGAGGGGTCAGGGC TGGGATGGGGGGGCACAGGCAGAGGGGTCAGGGCTGGGATGGAGGAGGCC CAGGCAGAGGGGTCAGGGCCAGGGTGGGGGGGCACAGGCAGAGGGGTCAG GGCTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	382	0.0026	207	c.22 others(218): Show c.2227_*2228insCCCCAGCCCTGACCCCTCTGCCTGTGCCCCCCCA CCCTGGCCCTGACCCCTCTGCCTGGGCCTCCTCCATCCCAGCCCTGACCC CTCTGCCTGTGCCCCCCCATCCCAGCCCTGACCCCTCTGCCTGTACCTCC TCCATCCCAGCCCTGACCCCTCTGCCTGTACCTCCTCCATCCCAGCCCTG ACCCCTCTGCCTGTGCCCCCCCA	HIPK4	ENSG00000160396.9	transcript	ENST00000291823.3	protein_coding		1911		chr19	TogoVar
HS3ST2_chr16_22809162_22921338	22819161	T T	TTCCTTCC others(200): Show TTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTC CCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCATTCCTTCCTTCCT TCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18995.hp2 NA19005.hp2 others(2): Show NA18979.hp1 NA18995.hp2 NA19005.hp2 NA19009.hp2 NA19060.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 others(2): Show a0001c0002t0001g0111 a0001c0002t0001g0112 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0115	5	350	0.0143	207	c.485 others(224): Show c.485+4076_485+4077insATTCCTTCCTTCCTTCCTTCCTTCCCTC CTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCATT CCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCC TTCCCTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCTTCCTTC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22819161	T T	TTCCTTCC others(200): Show TTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTC CCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCATTCCTTCCTTCCT TCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00621.hp2 others(7): Show HG00423.hp1 HG00438.hp1 HG00621.hp2 HG01070.hp2 HG01071.hp1 HG01978.hp2 HG03831.hp1 NA18959.hp2 NA19004.hp1 NA19056.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0008 a0001c0001 a0001c0002 a0003c0008	a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0004 a0003c0008t0002	a0001c0001t0001g0161 a0001c0001t0001g0326 a0001c0001t0001g0327 others(7): Show a0001c0001t0001g0161 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0002t0001g0045 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0004g0072 a0001c0002t0004g0137 a0003c0008t0002g0231 a0003c0008t0002g0232	10	350	0.0286	207	c.485 others(224): Show c.485+4076_485+4077insATTCCTTCCTTCCTTCCTTCCTTCCCTC CTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCATT CCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCC TTCCCTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCTTCCTTC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22819161	T T	TTCCTTCC others(200): Show TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTT CCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCATTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTC CTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCC	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0074 a0001c0002t0001g0074	1	350	0.0029	207	c.485 others(224): Show c.485+4077_485+4078insTTCATTCCTTCCTTCCTTCCTTCCTTCC CTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTC ATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCT TCCTTCCCTCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCCTCCTTCCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HS3ST2_chr16_22809162_22921338	22819161	T T	TTCCTTCC others(200): Show TTCCTTCCTTCCTTCATTCCTTCCTTCCTTCCTTCCTTCCCTCCTTCCTT CCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTCATTCCTTCCT TCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCCTC CTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCCC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	350	0.0029	207	c.485 others(224): Show c.485+4077_485+4078insTTCATTCCTTCCTTCCTTCCTTCCTTCC CTCCTTCCTTCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTC ATTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCT TCCTTCCCTCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTC CTTCCTTCCTTCCTTCCCTCCTTCCTTCC	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
HSD17B14_chr19_48808018_48841491	48824223	C C	CCAGCCTG others(200): Show CCAGCCTGGGCAACAGAGCGAGATTCCATCAAATAAATAAATAAATAAAT AAATAAATAAATAAATAAATAAATAAATGTTAAACATTGAACCACAAGTA AAAGTCAAGAAAAAAAGAAAGAAAGCCAGGTATGGTGGCTCACGCCTGTC ATCCTAACACTTTAGGAGGCCAAGGCAGGAAGACAGTTTGAACTCAGGAG TTCAAGAA	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02080.hp2 HG02523.hp1 others(5): Show HG02056.hp2 HG02080.hp2 HG02523.hp1 NA18612.hp2 NA18747.hp2 NA18954.hp2 NA18968.hp1 NA19074.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0263 others(5): Show a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0263 a0001c0001t0001g0265 a0001c0001t0001g0271 a0001c0001t0001g0286 a0002c0002t0001g0299 a0002c0002t0001g0300	8	394	0.0203	207	c.369 others(224): Show c.369+7444_369+7445insTTCTTGAACTCCTGAGTTCAAACTGTCT TCCTGCCTTGGCCTCCTAAAGTGTTAGGATGACAGGCGTGAGCCACCATA CCTGGCTTTCTTTCTTTTTTTCTTGACTTTTACTTGTGGTTCAATGTTTA ACATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT GATGGAATCTCGCTCTGTTGCCCAGGCTG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSD17B14_chr19_48808018_48841491	48824223	C C	CCAGCCTG others(200): Show CCAGCCTGGGCAACAGAGCGAGATTCCATCAAATAAATAAATAAATAAAT AAATAAATAAATAAATAAATAAATAAATGTTAAACATTGAACCACAAGTA AAAGTCAAGAAAAAAAGAAAGAAGGCCAGGTATGGTGGCTCACGCCTGTC ATCCTAACACTTTAGGAGGCCAAGGCAGGAAGACAGTTTGAACTCAGGAG TTCAAGAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG02970.hp1 HG03834.hp1 HG01516.hp2 HG02970.hp1 HG03834.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0174 a0002c0002t0001g0346 a0002c0002t0001g0359 a0001c0001t0001g0174 a0002c0002t0001g0346 a0002c0002t0001g0359	3	394	0.0076	207	c.369 others(224): Show c.369+7444_369+7445insTTCTTGAACTCCTGAGTTCAAACTGTCT TCCTGCCTTGGCCTCCTAAAGTGTTAGGATGACAGGCGTGAGCCACCATA CCTGGCCTTCTTTCTTTTTTTCTTGACTTTTACTTGTGGTTCAATGTTTA ACATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATTT GATGGAATCTCGCTCTGTTGCCCAGGCTG	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	5/8			chr19	TogoVar
HSF1_chr8_144286604_144319720	144313788	G G	GCGCCGCC others(200): Show GCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCC CCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCT CCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTCCCCGCGCCGCCTCCCCGC CTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCT CCCCGCCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	330	0.0030	207	c.124 others(222): Show c.1249-57_1249-56insGCCGCCTCCCCGCGCCGCCTCCCCGCGCCG CCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGC CGCCTCCCCGCGCCGCCTCCCCGCGCCGCCTCCCCGCGCCGCGCCGCCTC CCCGCGCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGCCTCCCCGC CTCCCCGCCTCCCCGCCTCCCCGCCTC	HSF1	ENSG00000185122.11	transcript	ENST00000528838.6	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr8	TogoVar
IFNAR1_chr21_33319970_33364864	33321817	T T	TACATATA others(200): Show TACATATATGGAACATATATATGTGGAACCAATACATATATGGAACATAT ATATGTGGAACCAATACATATATGCAACATATATATGTGGAACCAATACA TATATGGAACATATATATGTGGAACCAATACATATATGGAACATATATAT GTGGAACCAATACATATATGGAACATATATATGTGGAACAAATATATATG GAACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	323	0.0031	207	c.-32 others(218): Show c.-3239_-3238insACATATATGGAACATATATATGTGGAACCAATAC ATATATGGAACATATATATGTGGAACCAATACATATATGCAACATATATA TGTGGAACCAATACATATATGGAACATATATATGTGGAACCAATACATAT ATGGAACATATATATGTGGAACCAATACATATATGGAACATATATATGTG GAACAAATATATATGGAACATAC	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3152		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321867	G G	GTGGAACC others(200): Show GTGGAACCAATACATATATGCAACATATGTATGTGGAACCAATACATATA TGCAACATATGTATGTGGAACCAATACATATATGGAACATATGTATGTGG AACCAATACATATATGCAACATATGTATGTGGAACCAATACATATATGCA ACATATGTATGTGGAACCAATACATATATGCAACATATGTATGTGGAACC AATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0105 a0001c0001t0010g0105	1	323	0.0031	207	c.-31 others(218): Show c.-3189_-3188insTGGAACCAATACATATATGCAACATATGTATGTG GAACCAATACATATATGCAACATATGTATGTGGAACCAATACATATATGG AACATATGTATGTGGAACCAATACATATATGCAACATATGTATGTGGAAC CAATACATATATGCAACATATGTATGTGGAACCAATACATATATGCAACA TATGTATGTGGAACCAATATATA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3102		chr21	TogoVar
IFNAR1_chr21_33319970_33364864	33321867	G G	GTGGAACC others(200): Show GTGGAACCAATACATATATGCAACATATGTATGTGGAACCAATACATATA TGGAACATATGTATGTGGAACCAATACATATATGCAACATATGTATGTGG AACCAATACATATATGCAACATATGTATGTGGAACCAATACATATATGCA ACATATGTATGTGGAACCAATACATATATGCAACATATGTATGTGGAACC AATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp1 HG02647.hp1 HG03195.hp2 HG02258.hp1 HG02647.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0044 a0001c0001t0045 a0001c0001t0020 a0001c0001t0044 a0001c0001t0045	a0001c0001t0020g0020 a0001c0001t0044g0020 a0001c0001t0045g0129 a0001c0001t0020g0020 a0001c0001t0044g0020 a0001c0001t0045g0129	3	323	0.0093	207	c.-31 others(218): Show c.-3189_-3188insTGGAACCAATACATATATGCAACATATGTATGTG GAACCAATACATATATGGAACATATGTATGTGGAACCAATACATATATGC AACATATGTATGTGGAACCAATACATATATGCAACATATGTATGTGGAAC CAATACATATATGCAACATATGTATGTGGAACCAATACATATATGCAACA TATGTATGTGGAACCAATATATA	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		3102		chr21	TogoVar
IGF1_chr12_102390874_102485563	102441953	T T	TTCTTCTT others(200): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCT TCTTCTTC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	360	0.0028	207	c.221 others(226): Show c.221-22264_221-22263insGAAGAAGAAGAAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	IGF1	ENSG00000017427.17	transcript	ENST00000337514.11	protein_coding	2/3			chr12	TogoVar
IL19_chr1_206765773_206847981	206781970	T T	TAGTTATA others(200): Show TAGTTATATATACATATATATGTATATAGTTATATATACATATATATGTA TATAGTTATATATACATATATATGTATATAGTTATATATACATATATATG TATATAGTTATATATACATATATATGTATATGTTATATATACATATATAT GTATATGTTATATATACATATATATGTATATAGTTATATATACATATATA TGTATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG06807.hp1 HG01243.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0006 a0001c0001t0001 a0002c0002t0006	a0001c0001t0001g0129 a0002c0002t0006g0130 a0001c0001t0001g0129 a0002c0002t0006g0130	2	366	0.0055	207	c.-14 others(228): Show c.-149+10892_-149+10893insAGTTATATATACATATATATGTAT ATAGTTATATATACATATATATGTATATAGTTATATATACATATATATGT ATATAGTTATATATACATATATATGTATATAGTTATATATACATATATAT GTATATGTTATATATACATATATATGTATATGTTATATATACATATATAT GTATATAGTTATATATACATATATATGTATATA	IL19	ENSG00000142224.18	transcript	ENST00000659997.3	protein_coding	1/6			chr1	TogoVar
IL1RAPL2_chrX_104561199_105772829	105540912	T T	TTATATAT others(200): Show TTATATATCATATATAATATATACATATATTATATATCATATATAATATA TACATATATTATATATCATATATAATATATACATATATTATATATCATAT ATAATATATACATATATTATATATCATATATAATATATACATATATTATA TATCATATATTATATATGATATATAATACATACATATATATGATATATAA TACATACA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0019 a0001c0002t0001g0019	1	141	0.0071	207	c.772 others(226): Show c.772+56532_772+56533insCATATATAATATATACATATATTATA TATCATATATAATATATACATATATTATATATCATATATAATATATACAT ATATTATATATCATATATAATATATACATATATTATATATCATATATAAT ATATACATATATTATATATCATATATTATATATGATATATAATACATACA TATATATGATATATAATACATACATATATAT	IL1RAPL2	ENSG00000189108.14	transcript	ENST00000372582.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
IMPA1_chr8_81651914_81691325	81684489	G G	GTATACTA others(200): Show GTATACTACACTAAGTATCTTTAGATACTATGTGTAGTATATATACTACA CATAAGTATCTTTAGATACTATGTGTAGTATATATACTACACATAAGTAT CTTTAGATACTTATGTGTAGTATATATACTACACATAAGTATCTTTAGAT ACTTATGTGTAGTATATATACTACACATAAGTATCTTTAGATACTTATGT GTAGTATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02486.hp2 HG02717.hp2 others(1): Show HG02055.hp1 HG02486.hp2 HG02717.hp2 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0009 a0002c0005t0009 a0001c0001t0009 a0002c0005t0009	a0001c0001t0009g0082 a0001c0001t0009g0083 a0001c0001t0009g0084 others(1): Show a0001c0001t0009g0082 a0001c0001t0009g0083 a0001c0001t0009g0084 a0002c0005t0009g0085	4	380	0.0105	207	c.-25 others(224): Show c.-25+1762_-25+1763insTATACTACACATAAGTATCTAAAGATAC TTATGTGTAGTATATATACTACACATAAGTATCTAAAGATACTTATGTGT AGTATATATACTACACATAAGTATCTAAAGATACTTATGTGTAGTATATA TACTACACATAGTATCTAAAGATACTTATGTGTAGTATATATACTACACA TAGTATCTAAAGATACTTAGTGTAGTATA	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
IMPA1_chr8_81651914_81691325	81684560	A A	ATGTGTAG others(200): Show ATGTGTAGTATATATACTACACATAAGTATCTTTAGATACTTATGTGTAG TATATATACTACACATAAGTATCTTTAGATACTATGTGTAGTATATATAC TACACATAAGTATCTTTAGATACTTATGTGTAGTATATATACTACACATA AGTATCTTTAGATACTAATGTGTAGTATATATACTACACATAAGTATCTT TAGATACT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0137 a0001c0001t0019g0137	1	380	0.0026	207	c.-25 others(224): Show c.-25+1691_-25+1692insAGTATCTAAAGATACTTATGTGTAGTAT ATATACTACACATTAGTATCTAAAGATACTTATGTGTAGTATATATACTA CACATAAGTATCTAAAGATACTTATGTGTAGTATATATACTACACATAGT ATCTAAAGATACTTATGTGTAGTATATATACTACACATAAGTATCTAAAG ATACTTATGTGTAGTATATATACTACACA	IMPA1	ENSG00000133731.10	transcript	ENST00000256108.10	protein_coding	1/8			chr8	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(200): Show TAAGAAAAGAAAAGAAAAGAAAAGAAAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0142 a0002c0003t0001g0142	1	308	0.0033	207	c.127 others(226): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTTTCTTTTCTTTTCTTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
IZUMO3_chr9_24537952_24550897	24546446	C C	CCTTTTCT others(200): Show CCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	1	426	0.0024	207	c.-79 others(216): Show c.-798_-797insAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAAGAAAA GAAAAGAAAAGAAAAGAAAAG	IZUMO3	ENSG00000205442.13	transcript	ENST00000543880.7	protein_coding		550		chr9	TogoVar
JARID2_chr6_15241069_15527042	15469354	T T	TCCTCCCC others(200): Show TCCTCCCCTTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCC CCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCC	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA19010.hp2 HG03942.hp1 NA19010.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0242 a0001c0002t0001g0251 a0001c0002t0001g0242 a0001c0002t0001g0251	2	284	0.0070	207	c.670 others(222): Show c.670+637_670+638insCTCCCCTTCTCCCCCTCTCCCCCTCTCCCC CTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCT CTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCT CCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCCCCCTCTCC CCCTCTCCCCCTCTCCCCCTCTCCCCC	JARID2	ENSG00000008083.14	transcript	ENST00000341776.7	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
JPH2_chr20_44101590_44192188	44134464	A A	ATATATAA others(200): Show ATATATAAATATATATTTATTATATATATATATAATATATATAATATATA TTTATTAATATATAATAAATATATATTTATAATATATATAAATAAATATA TATTTATAATAAATAAATATAAATATATATTTATTTATATAAATAAATAT ATATTTATTTATATAAATAAATATATATTTATTATATATAAATAAATATA TATTTATT	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	338	0.0030	207	c.117 others(228): Show c.1170-15842_1170-15841insAATAAATATATATTTATTTATATA TAATAAATATATATTTATTTATATAAATAAATATATATTTATTTATATAA ATAAATATATATTTATATTTATTTATTATAAATATATATTTATTTATATA TATTATAAATATATATTTATTATATATTAATAAATATATATTATATATAT TATATATATATATAATAAATATATATTTATATA	JPH2	ENSG00000149596.7	transcript	ENST00000372980.4	protein_coding	2/5			chr20	TogoVar
KCNJ6_chr21_37602373_37921457	37712637	C C	CCTCCCCT others(200): Show CCTCCCCTTCTCCTCCTCTCCTTCCTCCCTTTCTCTTCCCTCCCTCCTCC TCCCTCCCTCCTCCCCTTCTCCTCCTCTCCTTCCTCCCTTTCTCTTCCCT CCCTCCTCCCCTCCTCCTCTCTCCCTCCTCTTCCCTCCCTCCTCCTCCTC TCCTTTCTCCCTTTCTCTTCCCTCCTTCCTCCCCTTCTCCTCCTCTCCTT CCTCCCTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03540.hp2 HG06807.hp1 HG02723.hp1 HG03540.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0050 a0001c0001t0091 a0001c0001t0045 a0001c0001t0050 a0001c0001t0091	a0001c0001t0045g0088 a0001c0001t0050g0018 a0001c0001t0091g0168 a0001c0001t0045g0088 a0001c0001t0050g0018 a0001c0001t0091g0168	3	198	0.0152	207	c.946 others(224): Show c.946+1573_946+1574insAAGGGAGGAAGGAGAGGAGGAGAAGGGG AGGAAGGAGGGAAGAGAAAGGGAGAAAGGAGAGGAGGAGGAGGGAGGGAA GAGGAGGGAGAGAGGAGGAGGGGAGGAGGGAGGGAAGAGAAAGGGAGGAA GGAGAGGAGGAGAAGGGGAGGAGGGAGGGAGGAGGAGGGAGGGAAGAGAA AGGGAGGAAGGAGAGGAGGAGAAGGGGAG	KCNJ6	ENSG00000157542.11	transcript	ENST00000609713.2	protein_coding	3/3			chr21	TogoVar
KCNK2_chr1_215077737_215242090	215209568	A A	AAAATAGA others(200): Show AAAATAGATATTATATATAAAATATATAAAATAGATATATATAAAATATA TAAAATAGATATTATATATAAAATATATATAATATATATATAAAATAGAT ATTATATATAAAATATATATTATATATTATATAAAATATATATTATATAT TATATAATATATAATATATATTATATATATTATATATTATATATTAAATA TATATTAT	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG04115.hp2 HG02155.hp1 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0071 a0001c0001t0020 a0001c0001t0071	a0001c0001t0020g0238 a0001c0001t0071g0192 a0001c0001t0020g0238 a0001c0001t0071g0192	2	260	0.0077	207	c.963 others(226): Show c.963+14477_963+14478insAATAGATATTATATATAAAATATATA AAATAGATATATATAAAATATATAAAATAGATATTATATATAAAATATAT ATAATATATATATAAAATAGATATTATATATAAAATATATATTATATATT ATATAAAATATATATTATATATTATATAATATATAATATATATTATATAT ATTATATATTATATATTAAATATATATTATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIAA0930_chr22_45187244_45245894	45229320	T T	TCCCCACC others(200): Show TCCCCACCACCACTCACCTGAAAGATCCCTCTCCACCCCCCCACCACTAA ACACTCACCCGAAAGATCCCTCTCCATGCCCCCCCACCACCAAACACTCA CCCGAAAGATCCCTCTCCATGCCCCCCCACCACCAAACACTCACCTGAAA GATCCCTCTCCACCCCCCCCACCACCAAACACTCACCTGAAAGATCCCTC TCCACACC	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18993.hp2 HG02056.hp2 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0040 a0001c0001t0039 a0001c0001t0040	a0001c0001t0039g0348 a0001c0001t0040g0347 a0001c0001t0039g0348 a0001c0001t0040g0347	2	398	0.0050	207	c.64+ others(224): Show c.64+11319_64+11320insGGTGTGGAGAGGGATCTTTCAGGTGAGT GTTTGGTGGTGGGGGGGGTGGAGAGGGATCTTTCAGGTGAGTGTTTGGTG GTGGGGGGGCATGGAGAGGGATCTTTCGGGTGAGTGTTTGGTGGTGGGGG GGCATGGAGAGGGATCTTTCGGGTGAGTGTTTAGTGGTGGGGGGGTGGAG AGGGATCTTTCAGGTGAGTGGTGGTGGGG	KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9			chr22	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(200): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTC CTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCT TCTTCTTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01952.hp1 HG01261.hp2 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0070 a0001c0001t0008g0090 a0001c0001t0002g0070 a0001c0001t0008g0090	2	308	0.0065	207	c.-25 others(226): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525918	T T	TTTCTTCT others(200): Show TTTCTTCTTCTTCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTTCTTCT TCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTC TTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCT TCTTCTTC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0069 a0001c0001t0009g0069	1	308	0.0033	207	c.-25 others(226): Show c.-25+38819_-25+38820insCCTTCTTCTTCTCCTTCTTCTTCTTC TTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTTCTTCTC CTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCT TCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(200): Show TCCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCCTCTT CTTCTTCC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0158 a0001c0001t0066g0158	1	308	0.0033	207	c.-25 others(226): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTCCTTCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTC TTCTTCTTCCTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(200): Show TCCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCCTCTT CTTCTTCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02165.hp2 NA18964.hp2 others(1): Show HG02083.hp1 HG02165.hp2 NA18964.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0048 a0001c0001t0002 a0001c0001t0003 a0001c0001t0048	a0001c0001t0002g0149 a0001c0001t0003g0142 a0001c0001t0003g0151 others(1): Show a0001c0001t0002g0149 a0001c0001t0003g0142 a0001c0001t0003g0151 a0001c0001t0048g0159	4	308	0.0130	207	c.-25 others(226): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTCCTTCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTC TTCTTCTTCCTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIAA1958_chr9_112481827_112674397	112525970	T T	TCCTTCTT others(200): Show TCCTTCTTCTCCTTCTTCTCCTTCTTCTTCTCCTTCTTCTTCTCCTTCTT CTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTCCT TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCCTCTT CTTCTTCC	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18945.hp2 NA19007.hp1 NA18747.hp2 NA18945.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0169 a0001c0001t0001g0180 a0001c0001t0001g0134 a0001c0001t0001g0169 a0001c0001t0001g0180	3	308	0.0097	207	c.-25 others(226): Show c.-25+38852_-25+38853insCCTTCTTCTCCTTCTTCTCCTTCTTC TTCTCCTTCTTCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCCTTCTCCTTCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCT CCTTCTCCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTC TTCTTCTTCCTCTTCTTCCTCTTCTTCTTCC	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3			chr9	TogoVar
KIF17_chr1_20659014_20723007	20712868	G G	GATATAGA others(200): Show GATATAGATAATATTATCTATATCTATAGATATAGATAATATTATCTATA TCTATAATATAGATAATATTATCTATATCTATAATATAGATAATATTATC TATATCTATTAATATAGATAATATTATCTATATCTATAATATAGATAATA TTATCTATATTATAGATATTATCTATATATAATATAGATAATATCTATAT TATAGATA	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0003 a0003	a0003c0036 a0003c0036	a0003c0036t0001 a0003c0036t0001	a0003c0036t0001g0026 a0003c0036t0001g0026	1	414	0.0024	207	c.480 others(222): Show c.480+585_480+586insTATCTATAATATAGATATTATCTATATTAT ATATAGATAATATCTATAATATAGATAATATTATCTATATTATAGATATA GATAATATTATCTATATTAATAGATATAGATAATATTATCTATATTATAG ATATAGATAATATTATCTATATTATAGATATAGATAATATTATCTATATC TATAGATATAGATAATATTATCTATAT	KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14			chr1	TogoVar
KRTAP4-12_chr17_41118091_41129182	41127396	T T	TAAAAATA others(200): Show TAAAAATATTAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAAT TTTTTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0000 a0003c0003t0001g0000	1	423	0.0024	207	c.-32 others(218): Show c.-3275_-3274insTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC CGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAATTTAATATTTTT	KRTAP4-12	ENSG00000213416.4	transcript	ENST00000394014.2	protein_coding		3215		chr17	TogoVar
LETM1_chr4_1806479_1861156	1828551	C C	CAGAGGGG others(200): Show CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCC CACCTCCCGGACGGGGCAGCTGGCTGGGCGGGGGGCTGACCCCCCAACCT CCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCCCCACTTCCCAG CAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CCGGGCAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0151	1	200	0.0050	207	c.108 others(226): Show c.1081-2869_1081-2868insCTGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTGCTGGGAAGTGGGGAGCCC CTCTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTTGGGGGGTCAGCCC CCCGCCCAGCCAGCTGCCCCGTCCGGGAGGTGGGGGGCGCCTCTGCCCGG CCGCCCCTACTGGGAAGTGAGGAGCCCCTCT	LETM1	ENSG00000168924.15	transcript	ENST00000302787.3	protein_coding	6/13			chr4	TogoVar
LMF1_chr16_848634_975984	858215	C C	CGTGGTGT others(200): Show CGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCG GGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGAT GGGTGTGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0046 a0001c0013t0001g0046	1	294	0.0034	207	c.153 others(226): Show c.1530-3510_1530-3509insTCACACCCATCCCGAGACACCACTCA CACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACC CATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATC CCGAGACACCACTCACACCCATCCCGAGACACCACGCACACCCATCCCGA GACACCACGCACACCCATCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858224	A A	ACGGGATG others(200): Show ACGGGATGGGTGTGCGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGG GATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATG GGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTG TGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAG TGGTGTCT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0159 a0001c0011t0001g0159	1	294	0.0034	207	c.153 others(226): Show c.1530-3519_1530-3518insAGACACCACTCACACCCATCCCGAGA CACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACC ACTCACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTC ACACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACGCACAC CCATCCCGAGACACCACGCACACCCATCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858261	C C	CGTGGTGT others(200): Show CGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGA TGGGTGTG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	294	0.0034	207	c.153 others(226): Show c.1530-3556_1530-3555insCACACCCATCCCGAGACACCACTCAC ACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTGCACACC CATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATC CCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGA GACACCACTCACACCCATCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858261	C C	CGTGGTGT others(200): Show CGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGA TGGGTGTG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02056.hp1 HG02148.hp1 others(6): Show HG01175.hp2 HG02056.hp1 HG02148.hp1 HG02257.hp2 HG03239.hp2 HG06807.hp1 NA18951.hp2 NA18952.hp1 NA19011.hp2	a0001 a0019 a0024 a0001 a0019 a0024	a0001c0001 a0001c0005 a0019c0057 others(1): Show a0001c0001 a0001c0005 a0019c0057 a0024c0064	a0001c0001t0001 a0001c0005t0001 a0019c0057t0001 others(1): Show a0001c0001t0001 a0001c0005t0001 a0019c0057t0001 a0024c0064t0001	a0001c0001t0001g0132 a0001c0001t0001g0160 a0001c0001t0001g0208 others(6): Show a0001c0001t0001g0132 a0001c0001t0001g0160 a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0233 a0001c0005t0001g0047 a0001c0005t0001g0080 a0019c0057t0001g0154 a0024c0064t0001g0139	9	294	0.0306	207	c.153 others(226): Show c.1530-3556_1530-3555insCACACCCATCCCGAGACACCACTCAC ACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCC ATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATC CCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGA GACACCACTCACACCCATCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858261	C C	CGTGGTGT others(200): Show CGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCTCGGGATGGGTGTGCGTGGTGTCTCGGGA TGGGTGTG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19068.hp2 NA19012.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0252 a0001c0001t0001g0261	2	294	0.0068	207	c.153 others(226): Show c.1530-3556_1530-3555insCACACCCATCCCGAGACACCACGCAC ACCCATCCCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCC ATCCCGAGACACCACTGCACACCCATCCCGAGACACCACTCACACCCATC CCGAGACACCACTCACACCCATCCCGAGACACCACTCACACCCATCCCGA GACACCACTCACACCCATCCCGAGACACCAC	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar

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Search Results (Total: 10000 hits)