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
CSMD1_chr8_2930361_4999914	3558588	C C	CTCAATAG others(510): Show CTCAATAGTACCCCGTGTCCACTCCTCCAATGATGAACGGTGCCTCAATG GTACCCCGTGTCCACTCCTGCAATGATGAATAGTGTCTCAATAGTACCCC ATGTCCACTCCTCCAATGATGAACGGTGCCTCAATGGTACCCCATGTCGA CTCCTCCAACGATGAACGGTGTCTCAATGGTACCCCGTGTCCACTCCTGC AATGATGAATGGTGTCTCAATAGTACCCCCGTGTCCACTCCTCCAATGAT GAACGGTGCCTCAATGGTACCCCGTGTCCACTCCTGCAATGATGAATAGT GTCTCAATAGTACCCCATGTCCACTCCTCCAATGATGAACGGTGCCTCAA TGGTACCCCATGTCGACTCCTCCAACGATGAACGGTGTCTCAATGGTACC CCGTGTCCACTCCTGCAATGATGAATGGTGTCTCAATAGTACCCCGTGTC CACTCCTCCAATGATGAACGGTGTCTCAATGGTACCCCGTGTCCACTCCC GCAATGATGAATAGTGCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0007 a0007	a0007c0029 a0007c0029	a0007c0029t0011 a0007c0029t0011	a0007c0029t0011g0054 a0007c0029t0011g0054	1	126	0.0079	517	c.134 others(538): Show c.1344+16356_1344+16357insAGCACTATTCATCATTGCGGGAGT GGACACGGGGTACCATTGAGACACCGTTCATCATTGGAGGAGTGGACACG GGGTACTATTGAGACACCATTCATCATTGCAGGAGTGGACACGGGGTACC ATTGAGACACCGTTCATCGTTGGAGGAGTCGACATGGGGTACCATTGAGG CACCGTTCATCATTGGAGGAGTGGACATGGGGTACTATTGAGACACTATT CATCATTGCAGGAGTGGACACGGGGTACCATTGAGGCACCGTTCATCATT GGAGGAGTGGACACGGGGGTACTATTGAGACACCATTCATCATTGCAGGA GTGGACACGGGGTACCATTGAGACACCGTTCATCGTTGGAGGAGTCGACA TGGGGTACCATTGAGGCACCGTTCATCATTGGAGGAGTGGACATGGGGTA CTATTGAGACACTATTCATCATTGCAGGAGTGGACACGGGGTACCATTGA GGCACCGTTCATCATTGGAGGAGTGGACACGGGGTACTATTGA	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	10/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4174757	T T	TGAGGAAG others(510): Show TGAGGAAGGGGGATGTGAGGGGGATGTGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGGGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGGGGGGAG GGGAGGGGAGGGGGAGAGGAGGGGGAGGGGAGAGGGAGAGGAGGGGGAGG GGAGGGGAGGGGAGGGGGAGAGGAGGGGGAGAGGAGGGGGAGGGGAGGGG GAGGGGGAGGGGAGGGGAGGGGGAGAGGACGGGGAGGGGAGGGGGAGGGG GAGAGGACGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGGG GGAGGGGGAGGGGGAGGGGGAGGGGGGGGGAGGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGGAGGGG	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0026 a0001c0003t0013g0026	1	126	0.0079	517	c.416 others(538): Show c.416-142659_416-142658insCCCCTCCCCCTCCCCTCCCCTCCC CTCCCCCTCCCCCTCCCCCCCCCTCCCCCTCCCCCTCCCCCTCCCCCCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCGTCCTCTCCCCCTC CCCCTCCCCTCCCCGTCCTCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTC CCCTCCCCCTCCTCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCTCTCCCTCTCCCCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCC CCTCCCCCTCCTCTCCCCCTCCCCTCCCCTCCCCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCACATCCCCCTCACATCCCCCTTCCTC	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69			chr8	TogoVar
DCLK1_chr13_35763652_36136382	35958131	A A	ACTATAAC others(510): Show ACTATAACCATCACCACCATCACTGCTATAACCACCACCACCACCACTAT AACCATCACCACCACCACCACTATAACCACCACTACCACCACCACCATTA TAACCACCACCACCACCACTATAACCACCATCATCATCACCACCACTACC ACTACTGTAACCATCACCACCATCACCACTATAACCACCACTACCACCAC CACCACTATAACCACCACCACCACCACTATAACCACCATCATCATCACCA CCACTACCACTACTGTAACCATCACCACCACCACTGCTATAACCATCACC ACTACCACTACTACCACTACTACAACCATTACCACCATCACTGCTATAAC CACCACCACCACCACCATTATCACCATCACCATCACACACCACAACTACC ACCACCACCACCATCACCACTATAACCACTAGCACCACCACTACTATAAC CATCACCACCGCTATAACCACCATCACCACCACCACTACCACTACTATAA CCATCACCACCATCACTG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0013	1	230	0.0044	517	c.724 others(536): Show c.724-10675_724-10674insCAGTGATGGTGGTGATGGTTATAGTA GTGGTAGTGGTGGTGGTGATGGTGGTTATAGCGGTGGTGATGGTTATAGT AGTGGTGGTGCTAGTGGTTATAGTGGTGATGGTGGTGGTGGTGGTAGTTG TGGTGTGTGATGGTGATGGTGATAATGGTGGTGGTGGTGGTGGTTATAGC AGTGATGGTGGTAATGGTTGTAGTAGTGGTAGTAGTGGTAGTGGTGATGG TTATAGCAGTGGTGGTGGTGATGGTTACAGTAGTGGTAGTGGTGGTGATG ATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAGTGGTGGTGGTGGT AGTGGTGGTTATAGTGGTGATGGTGGTGATGGTTACAGTAGTGGTAGTGG TGGTGATGATGATGGTGGTTATAGTGGTGGTGGTGGTGGTTATAATGGTG GTGGTGGTAGTGGTGGTTATAGTGGTGGTGGTGGTGATGGTTATAGTGGT GGTGGTGGTGGTTATAGCAGTGATGGTGGTGATGGTTATAG	DCLK1	ENSG00000133083.15	transcript	ENST00000360631.8	protein_coding	3/16			chr13	TogoVar
DIP2C_chr10_269201_694668	478176	G G	GAAGAAGG others(510): Show GAAGAAGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGA GAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGA AGGGAGGGGAGGGGAGGGGAGGGGAGAGGAGGGGAGGGGAGGAGAAGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGAAGGGAG GGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGA AGGGAGGGGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGGGGAGGG GAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGG GAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGG GAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAA GAAGGGAGGGGAGAAGAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0015 a0001c0001t0004g0015	1	88	0.0114	517	c.158 others(534): Show c.158-5628_158-5627insTTCTTCTCCCCTCCCTTCTTCTCCCCTC CCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTC TTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTC CCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTC CCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCC TCCCCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCTTCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTCCCTTCTC CCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCC TCCCCTCCCCTCCTCTCCCCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCC TCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCT TCTTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCTTCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DISP3_chr1_11474155_11542551	11522607	G G	GCCCAGCC others(510): Show GCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAG CCAGGGCCCAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGA CCCAGCCAGGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGC CAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGAC CCAGCCAGGACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCC AGGACCCAGCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCA GAGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCC AGCCAAGACCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCGAG AGCCCAGCCAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCA GCCAGGGCCCAGCCAGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0275 a0003c0003t0001g0275	1	358	0.0028	517	c.236 others(536): Show c.2363-1304_2363-1303insGACCCAGCCAGAGCCCAGCCAGGGCC CAGCCAGGGCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGACCCAGCCA GGGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGAGCCC AGCCAGGACCCAGCCAGAGCCCAGCCAGGGCCCAGCCAGGACCCAGCCAG GACCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGAGCCCAGCCAGGACCCA GCCAGGACCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGGGCCCAGCCAGG GCCCAGCCAGAGCCCAGCCAGGACCCAGCCAGGGCCCAGCCAGAGCCCAG CCAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGACCCAGCCAAGA CCCAGCCAGGACCCAGCCAAGACCCAGCCAGGACCCAGCGAGAGCCCAGC CAGGGCCCAGCGAGAGCCCAGCCAGGACCCAGCCAGAGCCCAGCCAGGGC CCAGCCAGGACCCAGCCAGGACCCAGCCAGAGCCCAGCCAG	DISP3	ENSG00000204624.8	transcript	ENST00000294484.7	protein_coding	10/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	1450442	C C	CGGTCTCG others(510): Show CGGTCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGCGG CCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCT CGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGATGAGGTGGGCGGCCCCGG TGGCTCGGGCAGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGG CTGAGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTG AGGCTGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGG CGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTG AGCTGTGAGGGTGAAGATGAGGTGGGCGGCCCCGGTGGCTCGGGCAGAGC TGTGAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGT GAGGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAG GGTGAAGACGAGGTGGGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0013 a0002c0001t0002g0013	1	40	0.0250	517	c.107 others(536): Show c.107-50922_107-50921insTCTCGGTGGCTGAGGCTGAGCTGTGA GGGTGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGG TGAAGACGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGA AGATGAGGTGGGCGGCCCCGGTGGCTCGGGCAGAGCTGTGAGGGTGAAGA CGAGGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGA GGTGGGCGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGACGAGGT GGGCGGCCTCGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGG CGGCCTCGGTGGCTGAGGCTGAGCTGTGAGGGTGAAGATGAGGTGGGCGG CCCCGGTGGCTCGGGCAGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCT CGGTGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGCGGCCTCGG TGGCTGAGGCGGAGCTGTGAGGGTGAAGACGAGGTGGGTGG	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DPH1_chr17_2025153_2048898	2035402	C C	CGGTGGGG others(510): Show CGGTGGGGAGGTAGCGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGG GAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTG AGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGC CCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCT GTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGG GGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGTA GTGGGGGTCCGGGTGAGGGGGCCCTGCCTGCGGTGGGGAGGTAGCGGGGG TCCAGGCGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGGCCCTGCC TATGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCCTGTGGTG GGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGG GGTGGGGGCCCTGCCTAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0163 a0003c0004t0001g0163	1	392	0.0026	517	c.279 others(532): Show c.279-555_279-554insCGGGGGTCCAGGCGAGGGGGCCCTGCCTGT GGTGGGGAGGGGGTGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTC CGGGTGAGGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGA GGGGGCCCTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCC CTGCCTGTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTG TGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGGG GAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGCGGTGGGGAGGTAG CGGGGGTCCAGGCGAGGGGGCCCTGCCTGTGGTGGGGAGGGGGTGGGGGC CCTGCCTATGGTGGGGAGGTAGTGGGGGTCCGGACGAGAGGGCCCTGCCT GTGGTGGGGAGGTAGTGGGGGTCCGGGTGAGGGGGCCCTGCCTGTGGTGG GGAGGGGGTGGGGGCCCTGCCTATGGTGGGGAGGTAG	DPH1	ENSG00000108963.19	transcript	ENST00000263083.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
DPP6_chr7_154047398_154899285	154062268	G G	GGGTTTAC others(510): Show GGGTTTACGATCCGACGGTCCGAACGCAGCTCGGGAACAGAAAGAAAGCA GGTTATTTGCAATCTACCGGAGCTTAAGGGCAGAAGGCAGGTGAGAGAAT TCTTAGGAGCTGTGGGGTTTTGTAGACTGTGGATCCCAAACTGCAGTATT AGCCAAGCCTTTGTATGAGGTCACAAAGGGGGCGGGGATCCGGAACTTTT GAAATGGGGAACCCAACAACAGCAAGTTTTTCATGAGTTACAAGAAAATC TTCTGGCAGCCCCAGCCCTGGGGCTACCCGATCTGACAAAGCCTTTTCCA TTGTATGCGTCAGAGAGAGAAAAGATGGCAGCTGGACTTTTAACCCAAAC TGTGGGGCCCTGGCTGAGGCCCGTAGCCTACGTCTCTAAACAACTAGACA GGGTTGCTAAAGGATGGCCCCCCTATTAGAGGGCCTTGGCAGCAACTGCC CTGCTAGTACAAGAAGCAAATAAGCTGATTCTTGGGCAAAACCTGAACAT AAAGGCCCCCCATTTTGT	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0029 a0002c0002t0029	a0002c0002t0029g0002 a0002c0002t0029g0002	1	38	0.0263	517	c.243 others(534): Show c.243+9206_243+9207insGTTTACGATCCGACGGTCCGAACGCAGC TCGGGAACAGAAAGAAAGCAGGTTATTTGCAATCTACCGGAGCTTAAGGG CAGAAGGCAGGTGAGAGAATTCTTAGGAGCTGTGGGGTTTTGTAGACTGT GGATCCCAAACTGCAGTATTAGCCAAGCCTTTGTATGAGGTCACAAAGGG GGCGGGGATCCGGAACTTTTGAAATGGGGAACCCAACAACAGCAAGTTTT TCATGAGTTACAAGAAAATCTTCTGGCAGCCCCAGCCCTGGGGCTACCCG ATCTGACAAAGCCTTTTCCATTGTATGCGTCAGAGAGAGAAAAGATGGCA GCTGGACTTTTAACCCAAACTGTGGGGCCCTGGCTGAGGCCCGTAGCCTA CGTCTCTAAACAACTAGACAGGGTTGCTAAAGGATGGCCCCCCTATTAGA GGGCCTTGGCAGCAACTGCCCTGCTAGTACAAGAAGCAAATAAGCTGATT CTTGGGCAAAACCTGAACATAAAGGCCCCCCATTTTGTG	DPP6	ENSG00000130226.18	transcript	ENST00000377770.8	protein_coding	1/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
EHMT1_chr9_137614005_137841127	137810251	C C	CGGTGATG others(510): Show CGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCGCGTGGACCGTCGG TGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCGCGTGGACCGTGGGTGA TGGGTCCGGAGGCGGTTCCGATGCCGCCCCGCGTGGACCGTCGGTGATGG GTCCGGAGGCGGTTCCGATGCCGCCCCGCGTGGACCGTCGGTGATGGGTC CGGAGGCGGTTCCGATGCCGCCCCGCGTGGACCGTCGGTGATGGGTCCGG AGGCGGTTCCGATGCCGCCCCGCGTGGACCGTCGGTGATGGGTCCGGAGG CGGTTCCGATGCCGCCCCGCGTGGACCGTCGGTGATGGGTCCGGAGGCGG TTCCGATGCCGCCCCTCGTGGACTGTGGGTGATGGGTCCGGAGGCGGTTC CGATGCCGCCCCTCGTGGACTGTGGGTGATGGGTCCGGAGGCGGTTCCGA TGCCGCCCCTCGTGGACTGTGGGTGATGGGTCCGGAGGCGGTTCCGATGC CGCCCCTCGTGGACTGTG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0170 a0001c0009t0001g0170	1	170	0.0059	517	c.271 others(536): Show c.2713-1176_2713-1175insCGCGTGGACCGTCGGTGATGGGTCCG GAGGCGGTTCCGATGCCGCCCCGCGTGGACCGTGGGTGATGGGTCCGGAG GCGGTTCCGATGCCGCCCCGCGTGGACCGTCGGTGATGGGTCCGGAGGCG GTTCCGATGCCGCCCCGCGTGGACCGTCGGTGATGGGTCCGGAGGCGGTT CCGATGCCGCCCCGCGTGGACCGTCGGTGATGGGTCCGGAGGCGGTTCCG ATGCCGCCCCGCGTGGACCGTCGGTGATGGGTCCGGAGGCGGTTCCGATG CCGCCCCGCGTGGACCGTCGGTGATGGGTCCGGAGGCGGTTCCGATGCCG CCCCTCGTGGACTGTGGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCC CTCGTGGACTGTGGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCTC GTGGACTGTGGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCCCTCGTG GACTGTGGGTGATGGGTCCGGAGGCGGTTCCGATGCCGCCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	18/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3315642	C C	CCCCATCC others(510): Show CCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCACACACACC CCCTACCACCATCCTCACCACCATCCCCATCCACACCCCCTACCACCACC ATCACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCC CCATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCC CTACCACCACCATCACCACCATCCCTATCCACACCCCCTACCACCACCAT CACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCT ATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCT ACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCA CCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCAT CCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTAC CACCACCATCACCACCAT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0143 a0001c0001t0003g0143	1	250	0.0040	517	c.259 others(536): Show c.259+22374_259+22375insATGGTGGTGATGGTGGTGGTAGGGGG TGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGAT GGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTG GTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTG TGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATAGGGATGG TGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATAGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTG GTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGTG TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXD3_chr9_137301896_137428162	137355690	A A	AAAGGGAG others(510): Show AAAGGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGG AGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGG AGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAGGAGGAAGGAGG AAGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAG GAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGGAGGAAGGAG GAAGGAGAAAGGGAGGAAGGAGGAAGGGAGGAAGGAGGAAGGAGGAAGGA GGAAGGAGAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAG GAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAG GAGGAAGGAGGAAGGAGG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0029 a0029	a0029c0036 a0029c0036	a0029c0036t0001 a0029c0036t0001	a0029c0036t0001g0003 a0029c0036t0001g0003	1	82	0.0122	517	c.757 others(532): Show c.757+577_757+578insCCTCCTTCCTCCTTCCTCCTTCCTCCTTCC TCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTC CTTCCTCCTTCCTCCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCC TTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCC TTTCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCC TTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTC CTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCCTT CCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCCTT TCTCCTTCCTCCTTCCTCCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTT CCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCCTT	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21			chr9	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(510): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGAAAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19080.hp2 NA19055.hp1 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0067 a0001c0001t0001g0068	2	346	0.0058	517	c.-76 others(534): Show c.-76-3080_-76-3079insAAAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(510): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGAAAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCTCAAGTTCC TATCACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA19009.hp1 NA19070.hp1 NA18964.hp1 NA19009.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0093 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0093	3	346	0.0087	517	c.-76 others(534): Show c.-76-3080_-76-3079insAAAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCTCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226100	A A	AAGGCCAG others(510): Show AAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAG GCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCC AGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGA AAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAG GAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAA CGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGT GGCGCAAGTTCCTATCACTGTGAGTTAGAAAGGCCAGAAAGGAACGTGGC GCAAGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0290	1	346	0.0029	517	c.-76 others(534): Show c.-76-2798_-76-2797insAAAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM118B_chr11_126206782_126267968	126226121	G G	GCAAGTTC others(510): Show GCAAGTTCCTATCACTGTGAGTTAGAAAGGCCAGAAAGGAACGTGGCGCA AGTTCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCT	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG01978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	346	0.0029	517	c.-76 others(534): Show c.-76-3080_-76-3079insAAAGGCCAGAAAGGAACGTGGCGCAAGT TCCTATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCC TATCACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTAT CACTGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCAC TGTGAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGT GAGTTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAG TTAGGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTA GGCAGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGC AGGCCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGG CCAGAAAGGAACGTGGCGCAAGTTCCTATCACTGTGAGTTAGGCAGGCCA GAAAGGAACGTGGCTCAAGTTCCTATCACTGTGAGTTAG	FAM118B	ENSG00000197798.9	transcript	ENST00000533050.6	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr11	TogoVar
FAM3B_chr21_41311801_41362727	41313428	A A	AATTTGAT others(510): Show AATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCAT TTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTG ATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATC CATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCAT TCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCATTCT TGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGA ACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACC TCATCATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCA TCATACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATCA TACAGTATGTATGCATGTCGCATTTGATCCATTCTTGAACCTCATCATAC AGTATGTATGCATGTCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	314	0.0032	517	c.-34 others(528): Show c.-3452_-3451insATTTGATCCATTCTTGAACCTCATCATACAGTAT GTATGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTA TGCATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGC ATGTCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATG TCGCATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCG CATTTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCAT TTGATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTG ATCCATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATC CATTCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCAT TCTTGAACCTCATCATACAGTATGTATGCATGTCGCATTTGATCCATTCT TGAACCTCATCATACAGTATGTATGCATGTCGC	FAM3B	ENSG00000183844.17	transcript	ENST00000357985.7	protein_coding		3372		chr21	TogoVar
FTCD_chr21_46131779_46160579	46145735	T T	TGCCCTCC others(510): Show TGCCCTCCCAACAGCGCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGC CCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCC AACAGCGCCCTCCCCCCAACAACTGCGCCCTCCCCTTCCCCCTCCCCGCC CTCCCCCCAACAGCGCCCTCCCCCCAACAGCGCCCTCCCCCCAACAACTG CGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCCCTCCCCCC AACAACTGCGCCCTCCCCTTCCCCCTCCCCGCCCTCCCCCCAACAGCGCC CTCCCCCCAACAGCGCCCTCCCCCCAACTGTGCCCTCCCCTTCCCCCTCC CCGCCCTCCCCCCAACAGCGCCTTCCCCCCACCCCGCGCTCCCCCCAACA GCGCCCTCCCCCCAACAGCACCCTCCCCCCAACAGCGCCCTCCCCCCAAC AGCGCCCTCCCCCAACAGTGCCCTTCCCCCTCCCCGCCCTCCCCCAACAG CGCCCTCCCCCCAACAGC	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA18906.hp2 NA21309.hp2 HG03130.hp1 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0189	3	230	0.0130	517	c.109 others(532): Show c.1098+82_1098+83insGCTGTTGGGGGGAGGGCGCTGTTGGGGGAG GGCGGGGAGGGGGAAGGGCACTGTTGGGGGAGGGCGCTGTTGGGGGGAGG GCGCTGTTGGGGGGAGGGTGCTGTTGGGGGGAGGGCGCTGTTGGGGGGAG CGCGGGGTGGGGGGAAGGCGCTGTTGGGGGGAGGGCGGGGAGGGGGAAGG GGAGGGCACAGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGGG GGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCG CTGTTGGGGGGAGGGCGGGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGG GGAGGGCGCTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCGGGGAGGGG GAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGGGGAGGGCG GGGAGGGGGAAGGGGAGGGCGCAGTTGTTGGGGGGAGGGCGCTGTTGGGG GGAGGGCGGGGAGGGGGAAGGGCGCTGTTGGGAGGGC	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	9/13			chr21	TogoVar
GAL3ST2_chr2_241771822_241809287	241807495	T T	TCCCTCCT others(510): Show TCCCTCCTCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCC TCAGCCCAGGGACGTCCGCAGGCCACCCTCCCTCCTCCCTCAACCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCT CCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAAC CCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTC CGCAGGCCACCCTCCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	314	0.0032	517	c.33 others(528): Show c.3329_*3330insCCCTCCTCCCTCAACCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCTCCTCAGCCCAGGGACGTCCGCAGGCCACCCTCCCTCC TCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGG CCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAACCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCT CAACCCAGGGACCTCCGCAGGCCACCCTCCCTC	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		3209		chr2	TogoVar
HSD17B14_chr19_48808018_48841491	48834491	G G	GGGCCTGG others(510): Show GGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCT GGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAG GAAGGGCTGGGAGCCTGGACTCCTGGGTCCGAGGAAGTAGGGCCTGGGGG CCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTGGACTCCTGG GTCCGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGA AGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGCC TGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCCTGGACTCCTGGGT CTGAGGGAGGAGGTGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGG GGCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGAGGTCTGG ACTCCTGGGTCTGAGGAAGTAGGGCCTGGGGGCCTGGACTCCTGGGTCTG AGGGAGGAAGGGCTGGGA	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0199	1	394	0.0025	517	c.128 others(532): Show c.128-134_128-133insTCCCAGCCCTTCCTCCCTCAGACCCAGGAG TCCAGGCCCCCAGGCCCTACTTCCTCAGACCCAGGAGTCCAGACCTCAGC CCCTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGCCCCTCCTCCCTCA GACCCAGGAGTCCAGGCCCCCAGCACCTCCTCCCTCAGACCCAGGAGTCC AGGCCCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCC CTCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGA CCCAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAG GCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGCCCT ACTTCCTCGGACCCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACC CAGGAGTCCAGGCCCCCAGGCCCTACTTCCTCAGACCCAGGAGTCCAGAC CTCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCC	HSD17B14	ENSG00000087076.9	transcript	ENST00000263278.9	protein_coding	2/8			chr19	TogoVar
ITGB1BP1_chr2_9398475_9428528	9400249	T T	TCCCCTCC others(510): Show TCCCCTCCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGC CCCCTCCCCTCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCCTCCCCT CCTGCCCCCTTCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCCCT CCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCCTGCCCCCTCCCC TCCTGCCCTCCTCCCCTCCTGCCCTCCTGCCCCCTCCCCTCCTGCCCTCC TCCCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGCCCTCCTGCCCCCCTC CCCTCCTGCCCTCCTGCCCCCCTCCCCTCCTGTACCCCTCCCCCCTCCCC TCCTGTACCCCTCCCCCCTCCTGCCCCCTCCCCTCCTGCCCCCTGCCCCC CTCCCCTCCTGCCCCCTCCCTTCCTACCCCCTCCCCTCCTGCCCCCTCCC CTCCTCCCCTCATGCCCTCCTGCCCCCTCCCCTCCTGCCCCCCCTCCCCT CCTCCCCTCCTGCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03540.hp1 HG03195.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0015 a0001c0001t0008g0015	2	276	0.0073	517	c.65 others(528): Show c.6584_*6585insGGGGGGCAGGAGGGGAGGAGGGGAGGGGGGGCAG GAGGGGAGGGGGCAGGAGGGCATGAGGGGAGGAGGGGAGGGGGCAGGAGG GGAGGGGGTAGGAAGGGAGGGGGCAGGAGGGGAGGGGGGCAGGGGGCAGG AGGGGAGGGGGCAGGAGGGGGGAGGGGTACAGGAGGGGAGGGGGGAGGGG TACAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGGGGGCAGGAGGG CAGGAGGGGAGGGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGA GGGGGCAGGAGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAG GGCAGGAGGGGAGGGGGCAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGA GGGGGGCAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGGAGGGGGGCAGG AGGGCAGGAGGGGAGGAGGGCAGGAGGGGAGGGGGCAGGAGGGGAGGGGG CAGGAGGGCAGGAGGGGAAGGGGGCAGGAGGGG	ITGB1BP1	ENSG00000119185.13	transcript	ENST00000355346.9	protein_coding		3225		chr2	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(510): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCC CTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTCCCCCTCCCCTCCC CCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCCCCTCCCCCC ATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCC TCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTT CCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTC TCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCT CTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTC TCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0067 a0004c0007t0012g0067	1	158	0.0063	517	c.11 others(538): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCC CCTCCCCCTCTCTCCCCCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTC TGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTC CCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTT CCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTC TCTCTCCCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCC CCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCC TCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCC CCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(510): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCCCCCTCCCCCTCC TTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCT CTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCT CCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTC CCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCCCTCTCTCTCCCCCTCTC TGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTC CCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCCTT CCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTC TCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCTCTCTCTCT CTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTCTCTCTCTC TCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0129 a0001c0013t0001g0129	1	158	0.0063	517	c.11 others(538): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCCCCCT CCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCT CTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCCTCTC TCCCCCTCCCCCTCCCCCTCCCCTCCCCCATCCCCTCCCCCCTCTCTCTC CCCCTCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTA TCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCATCCCCCTCC CCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTC CCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCT CTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTC TCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(510): Show CTCTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTC CCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCTCCCCCCTC TCCCCTCCCCCTCTCTCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCCCCC TCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCTCT CTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCATCCCCCTCCCC CATCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCC CCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCC TTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCT CTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCT CTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTTCCCTCTCTCTCTC TCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0035 a0001c0006t0035	a0001c0006t0035g0057 a0001c0006t0035g0057	1	158	0.0063	517	c.11 others(538): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCTCCCC CTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCT CCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCCTCCCCTCCCCCCTC TCTCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCTCTCTCTCC CCCTCTCTCTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCATCC CCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCATCCCCCTCCCCCAT CCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCCCCCT CCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCC CTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCCTCCTTCCCT CTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTTCCCTC TCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCTCTCCCCCTCC	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KLHDC4_chr16_87702812_87770986	87739200	C C	CTCATCCA others(510): Show CTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCA TCCACCCACACACCAGCACCTCATCCACCCACACACCAGCACCTCATCCA CCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCA CACACCAGCATCTCATCCACACACCAGCACCTCATCCATCCACACACCAG CATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACC TCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCTCAT CCATCCACACACCAGCATCTCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCATCTCATCCACACACCAGCACCTCATCCATCCACACACCAGC ATCTCATCCATCCACACACCAGCACCTCATCCATCCACACACCAGCACCT CATCCATCCACACAACAGCATCTCATCCATCCACACAACAGCATCTCATC CATCCACACACCAGCACG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	380	0.0026	517	c.507 others(534): Show c.507-8557_507-8556insCGTGCTGGTGTGTGGATGGATGAGATGC TGTTGTGTGGATGGATGAGATGCTGTTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGAT GAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATGAGGTGCT GGTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTG TGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGATGCTGGTGTGTG GATGGATGAGGTGCTGGTGTGTGGATGAGATGCTGGTGTGTGGATGGATG AGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGGTGGATGAGGT GCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGGTGGATGAGGTGCTG GTGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGA	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
LMF1_chr16_848634_975984	857613	G G	GAGTGGTG others(510): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCT CGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCG GGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCACGGG ACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC GGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG AGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0251 a0001c0001t0001g0251	1	294	0.0034	517	c.153 others(536): Show c.1530-2908_1530-2907insGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GTGACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAG ACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGAC ACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACAC CACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCA CTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACAC CCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857705	G G	GAGTGGTG others(510): Show GAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGT GTCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTC GGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGA CGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGG TGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTG CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAG TGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	294	0.0034	517	c.153 others(536): Show c.1530-3000_1530-2999insGCACACCCGTCCCGTGACACCACTCA CACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCCG TCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCC GAGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCAC TCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	857706	C C	CAGTGGTG others(510): Show CAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCAC GGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGG GACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGAC GGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGT GTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC AGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCACGGGACGGGTGTGCA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp2 HG02486.hp2 others(2): Show HG01167.hp1 HG02109.hp2 HG02486.hp2 HG04199.hp1 HG06807.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0001c0002 a0011c0038 a0001c0001 a0001c0002 a0011c0038	a0001c0001t0001 a0001c0002t0001 a0011c0038t0001 a0001c0001t0001 a0001c0002t0001 a0011c0038t0001	a0001c0001t0001g0024 a0001c0001t0001g0121 a0001c0001t0001g0240 others(2): Show a0001c0001t0001g0024 a0001c0001t0001g0121 a0001c0001t0001g0240 a0001c0002t0001g0021 a0011c0038t0001g0245	5	294	0.0170	517	c.153 others(536): Show c.1530-3001_1530-3000insTGCACACCCGTCCCGTGACACCACTC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACCC GTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCC CGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTG ACACCACTCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGTGACACC ACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCAC TGCACACCCGTCCCGTGACACCACTGCACACCCGTCCCGAGACACCACTC ACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACAC CCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858519	C C	CAGTGGTG others(510): Show CAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCAGT GGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGACTGGTGTCAC GGGACGGGTGTGACTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGG ACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTG TGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTG CAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCA GTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGG TGTCACGGGACGGGTGTG	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0001 a0003c0032t0001	a0003c0032t0001g0006 a0003c0032t0001g0006	1	294	0.0034	517	c.153 others(536): Show c.1530-3814_1530-3813insCACACCCGTCCCGTGACACCACTCAC ACCCGTCCCGTGACACCACTCACACCCGTCCCGTGACACCACTGCACACG CGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACACCCG TCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCGTC CCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCG TGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTGAC ACCACTGCACACCCGTCCCGTGACACCAGTCACACCCGTCCCGTGACACC AGTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTC ACACCCGTCCCGTGACACCACTCACACCCGTCCCGAGACACCACTGCACA CCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTGCACACC CGTCCCGAGACACCACTGCACACCCGTCCCGAGACACCACT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(510): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCAC GGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACAT AGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGG GCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGT GGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGGGA GCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGGGCACA GGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAG AAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGGCAGAAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0018 a0002c0009t0001g0018	1	398	0.0025	517	c.-42 others(528): Show c.-4292_-4291insGCTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCC ACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTAT GTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGT GCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCC TTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGC CCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCT GCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCACTCC CCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTA GCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTG CTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTTCTGCCGTGCC TGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(510): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATA TAACTATAATTTATAGAAATATAATTTATATAAATGTATAACTATAATTT ATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAA TTTATATAAATATATAAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0055 a0055	a0055c0074 a0055c0074	a0055c0074t0001 a0055c0074t0001	a0055c0074t0001g0139 a0055c0074t0001g0139	1	152	0.0066	517	c.342 others(536): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT ATATAACTATAATTTATAGAAATATAATTTATATAAATGTATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATA TAATTTATATAAATATATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315431	A A	ATATAATT others(510): Show ATATAATTTATATAAATATATAAATATAATTTATAGAAATATAATTTATA TAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATAAC TATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAG AAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATTTA TATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATATA ACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTAT AGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAATT TATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATGTA TAACTATAATTTATAGAAATATAATTTATATAAATGTATAACTATAATTT ATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAA TTTATATAAATATATAAC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0120 a0001c0120	a0001c0120t0001 a0001c0120t0001	a0001c0120t0001g0142 a0001c0120t0001g0142	1	152	0.0066	517	c.342 others(536): Show c.3420-8498_3420-8497insAAATATAATTTATAGAAATATAATTT ATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATATAT AACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATTTA TAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATAAT TTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAATAT ATAACTATAATTTATAGAAATATAATTTATATAAATATATAACTATAATT TATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATATA ATTTATATAAATATATAACTATAATTTATAGAAATATAATTTATATAAAT GTATAACTATAATTTATAGAAATATAATTTATATAAATGTATAACTATAA TTTATAGAAATATAATTTATATAAATATATAACTATAATTTATAGAAATA TAATTTATATAAATATATAACTATAATTTATATAAATATAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP3K15_chrX_19355059_19520508	19478032	G G	GGGGGAGA others(510): Show GGGGGAGAGAGGGGGGAGAGAGGGGGAGAGGGGGGAAGGGGGGAGAGGGG GAGAGGGGGGAGAGGGGGAGAGGGGGGAGAGGGGGAGGGGGGAGGGGGGA GAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGAGAGGGGGAGAGGGGGAGA GGGGGGGAGGGGGAGAGGGGGGGAGGGGGAGGGGGAGAGGGGGGGAGGGG GGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGGGGGAGAGGGGGGGAGGG GGGAGAGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGG GGAGAGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGGAGGGG GGAGAGGGGGGAGGGGGGAGAGGGGGAGAGAGGGGGGAGAGGGGGGAGAG GGGGAGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGG GGAGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGG AGAGGGGGAGGGGGGAGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0013 a0013	a0013c0009 a0013c0009	a0013c0009t0020 a0013c0009t0020	a0013c0009t0020g0163 a0013c0009t0020g0163	1	163	0.0061	517	c.525 others(534): Show c.525+8449_525+8450insTCTCCCCCCTCCCCCTCTCCCCCCTCCC CCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCTCCCCTCCCCCCT CTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCTCCCCCTCTCCCCCC TCTCCCCCCTCTCTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCC CCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCC CTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCC CTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCCCCTCTCCCCCCTCCCCC CCTCTCCCCCTCCCCCTCCCCCCCTCTCCCCCTCCCCCCCTCTCCCCCTC TCCCCCTCTCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCC CCCCTCCCCCTCTCCCCCCTCTCCCCCTCTCCCCCCTCTCCCCCTCTCCC CCCTTCCCCCCTCTCCCCCTCTCTCCCCCCTCTCTCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MBD3L3_chr19_7051207_7063676	7061874	T T	TTATATAA others(510): Show TTATATAATTATATTCTATATAATATAATTATATTATATATAATTATATT AAATATATTATATAATATATAATTATATTATATATTATATAACATATAAT TATATTATATATTATATAATATATAATTATATTATACATTATATAATATA TAATTATATTATATATTATAATACATTTAATATAATTATATTATAGATTA TAATCTATAATATAATTATATTAATAGTATTATAATATATAATATATTAT ATATAATTATATTATAACATATTATATATAATTATATTATAGATCATAAT CTATAATATAATTATATATAATATGTTATAATATATAATTATATTCTATA TATAATTATATATAATATAATTATATTCTGTATATAATTATATATAATAT AATTATATTCTGTATATAATTATATATAATTATATTCTGTATATAATTAT ATATAATTATATTCTATATATAATATAATTATATATAATTATATACAGAA TATAATTATATATAATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	288	0.0035	517	c.-32 others(528): Show c.-3270_-3269insGTATTATATATAATTATATTCTGTATATAATTAT ATATAATTATATTATATATAGAATATAATTATATATAATTATATACAGAA TATAATTATATATAATTATATACAGAATATAATTATATTATATATAATTA TATACAGAATATAATTATATTATATATAATTATATATAGAATATAATTAT ATATTATAACATATTATATATAATTATATTATAGATTATGATCTATAATA TAATTATATATAATATGTTATAATATAATTATATATAATATATTATATAT TATAATACTATTAATATAATTATATTATAGATTATAATCTATAATATAAT TATATTAAATGTATTATAATATATAATATAATTATATATTATATAATGTA TAATATAATTATATATTATATAATATATAATATAATTATATGTTATATAA TATATAATATAATTATATATTATATAATATATTTAATATAATTATATATA ATATAATTATATTATATAGAATATAATTATATA	MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding		3199		chr19	TogoVar
MCF2L2_chr3_183173041_183433619	183314939	T T	TTTGAGAC others(510): Show TTTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACG ATCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGG TAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTG GTCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGT GCTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTT CTAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGA AATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACA AGATAACAAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATC ACAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTT TGTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp2 HG01361.hp1 others(7): Show HG00438.hp2 HG00609.hp2 HG01361.hp1 HG01978.hp1 HG01978.hp2 HG03130.hp1 HG03492.hp2 NA18950.hp1 NA18985.hp2 NA20905.hp2	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0007 a0021 a0023 a0029	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0006 a0007c0005 a0021c0025 a0023c0022 a0029c0029	a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 others(7): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0003 a0003c0003t0008 a0004c0004t0004 a0006c0006t0003 a0007c0005t0001 a0021c0025t0003 a0023c0022t0020 a0029c0029t0001	a0001c0001t0001g0021 a0002c0002t0001g0092 a0003c0003t0003g0105 others(7): Show a0001c0001t0001g0021 a0002c0002t0001g0092 a0003c0003t0003g0105 a0003c0003t0008g0025 a0004c0004t0004g0052 a0006c0006t0003g0142 a0007c0005t0001g0085 a0021c0025t0003g0143 a0023c0022t0020g0026 a0029c0029t0001g0115	10	176	0.0568	517	c.753 others(534): Show c.753+3128_753+3129insCAAACAAACAAACAAACAAACAAAAAAC AAACCAAAAAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGAT TATTGTCCTAATTCAAATCTGATTTCTTTGTTTGTTATCTTGTAGCTTAG AAGCAAGAATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCT CATCCAAAAATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAG ATACTGGCCAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAG GCCAAGGCGGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACC AACACGGAGAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATG GTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT CTCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTG TACTCCAGCCTGGGCAACAAGAGTGAAATTCTGTCTCAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183314939	T T	TTTGAGAC others(510): Show TTTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACG ATCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGG TAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTG GTCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGT GCTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTT CTAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGA AATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACA AGATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATC ACAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTT TGTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0016 a0004c0004t0016	a0004c0004t0016g0133 a0004c0004t0016g0133	1	176	0.0057	517	c.753 others(534): Show c.753+3128_753+3129insCAAACAAACAAACAAACAAACAAAAAAC AAACCAAAAAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGAT TATTGTCCTAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAG AAGCAAGAATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCT CATCCAAAAATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAG ATACTGGCCAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAG GCCAAGGCGGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACC AACACGGAGAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATG GTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT CTCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTG TACTCCAGCCTGGGCAACAAGAGTGAAATTCTGTCTCAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MCF2L2_chr3_183173041_183433619	183314943	T T	TTTGAGAC others(510): Show TTTGAGACAGAATTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTACG ATCTCAGCTCATTGCAACCTCCGCCTCCCAGGTTCAAGAGATTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCATGTCCGGG TAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCGTGTTGGTCAGGCTG GTCTCAAACTCCCGACTTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGT GCTGGTATTACAGGTGTGAGCCACTGCACCTGGCCAGTATCTCTTTTTTT CTAATATAAACCATTTCTCTCTTTAAGCCATTTTTGGATGAGAAAGAGGA AATATATAACTCTAGTTTAATGATTTTGGTATTCTTGCTTCTAAGCTACA AGATAACGAACAAAGAAATCAGATTTGAATTAGGACAATAATCAGTAATC ACAAAAAGGCCTTAAGAAATTCTCTGTATTTTTTTGGTTTGTTTTTTGTT TGTTTGTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0035 a0001c0033t0001g0035	1	176	0.0057	517	c.753 others(534): Show c.753+3124_753+3125insCAAACAAACAAACAAACAAACAAAAAAC AAACCAAAAAAATACAGAGAATTTCTTAAGGCCTTTTTGTGATTACTGAT TATTGTCCTAATTCAAATCTGATTTCTTTGTTCGTTATCTTGTAGCTTAG AAGCAAGAATACCAAAATCATTAAACTAGAGTTATATATTTCCTCTTTCT CATCCAAAAATGGCTTAAAGAGAGAAATGGTTTATATTAGAAAAAAAGAG ATACTGGCCAGGTGCAGTGGCTCACACCTGTAATACCAGCACTTTGGGAG GCCAAGGCGGGTGGATCACCTGAAGTCGGGAGTTTGAGACCAGCCTGACC AACACGGAGAAACCCCATCTCTACTAAAAATACAAAATTACCCGGACATG GTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAAT CTCTTGAACCTGGGAGGCGGAGGTTGCAATGAGCTGAGATCGTACCATTG TACTCCAGCCTGGGCAACAAGAGTGAAATTCTGTCTCAA	MCF2L2	ENSG00000053524.13	transcript	ENST00000328913.8	protein_coding	7/29			chr3	TogoVar
MRPL28_chr16_361969_375538	370390	G G	GCTACCCC others(510): Show GCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCTCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCT CTCACCCGCTACCCCGGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGG CTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCCCTACCCCTGCCCC CGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCC CCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGG CCCCCGGGCTCTCACTCC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0154 a0002c0003t0001g0154	1	394	0.0025	517	c.-8+ others(530): Show c.-8+108_-8+109insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGT GAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGG GGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGCCGGGGTAGG AGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAG GAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGCCGGGG TAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGG GGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCC GGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGG CCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGTAG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MYNN_chr3_169768396_169794716	169770602	A A	AATATAAA others(510): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATATATAAAAATTTATATTTATATATCATAA ATAAAAATTTATATTTATATATCATAAATAAAAATTTATATTTATATATC ATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATA TATCATATATAAAAATTTATATTTATATATCATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0002	1	350	0.0029	517	c.-28 others(528): Show c.-2892_-2891insATATAAATATATAAAAATTTATATTTATATATCA TAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAATTTAT ATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAAAAAT TTATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT AAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATATATCATATATAAAAATTTATATATATCAT ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATC	MYNN	ENSG00000085274.16	transcript	ENST00000349841.10	protein_coding		2793		chr3	TogoVar
MYT1_chr20_64159452_64247253	64173492	T T	TTAGTTGT others(510): Show TTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCCCTCCTGCAGCAT CTTTGTCTTCAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAG CATCTTCCTTAGTTGTGTCCATTTCCTCCTGACTTCTCCTCCTGCAGCAT CTTTCCTTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCA TCTTTCCTTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGC ATCTTTCCTTGTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGC AGCATCTTTCCTTGTAGTTGTGTCCATTTCCCTCCCTGGCTTCTCCTCCT GCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCT GCAGCATCTTTCCTTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCT CCTGCAGCATCTTTCCTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCT CCTGCAGCATCTTCCCTG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0001 a0004c0009t0001	a0004c0009t0001g0042 a0004c0009t0001g0042	1	223	0.0045	517	c.-99 others(534): Show c.-99+8789_-99+8790insCCTCCTGCAGCATCTTTGTCTTCAGTTG TGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTCCTTAGTTG TGTCCATTTCCTCCTGACTTCTCCTCCTGCAGCATCTTTCCTTAGTTGTG TCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTCCTTAGTTGT GTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCTTGTAGT TGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCTTGT AGTTGTGTCCATTTCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCTA GTTGTGTCCATTTCCCCTCCCTGGCTTCTCCTCCTGCAGCATCTTTCCTT GTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTTC CTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCCTGCAGCATCTTCC CTGTAGTTGTGTCCATTTCCCCTCCCTGACTTCTCCTCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(510): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCC CTCCCCTTCCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCC TCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCC TCCCCTTCCTCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTTCCCT TTTGCCTCCTCTCCCCTCCCCTTCCCCTCCCCTCCTCTTCCCCTCCCCTC TCCTTCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCT CCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTT CCTCTCCCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0090 a0001c0001t0003g0090	1	223	0.0045	517	c.289 others(534): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTTCCCCTCCCCTCT CCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCC CCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCCTTCC TCTCCCCTCTCCCTTCCCTTTTGCCTCCTCTCCCCTCCCCTTCCCCTCCC CTCCTCTTCCCCTCCCCTCTCCTTCCCCTTTCCCTCCTCCCCTCTTCCCT CCCTCTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCC CTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
MYT1_chr20_64159452_64247253	64233262	T T	TCCCCTTT others(510): Show TCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCTCCCC TCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCC TCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCC TCCCCTTCCTCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTTCCCT TTTGCCTCCTCTCCCCTCCCCTTCCCCTCCCCTCCTCTTCCCCTCCCCTC TCCTTCCCCTTTCCCTCCTCCCCTCTTCCCTCCCTCTCTCTCCTCCCCCT CCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCT CCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTT CCTCTCCCCTCTCCCTCC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01346.hp1 HG01361.hp1 others(7): Show HG01169.hp2 HG01346.hp1 HG01361.hp1 HG02976.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0014 others(1): Show a0001c0001 a0001c0007 a0001c0014 a0002c0011	a0001c0001t0003 a0001c0001t0009 a0001c0007t0002 others(2): Show a0001c0001t0003 a0001c0001t0009 a0001c0007t0002 a0001c0014t0003 a0002c0011t0003	a0001c0001t0003g0073 a0001c0001t0003g0112 a0001c0001t0003g0177 others(7): Show a0001c0001t0003g0073 a0001c0001t0003g0112 a0001c0001t0003g0177 a0001c0001t0003g0188 a0001c0001t0009g0065 a0001c0001t0009g0076 a0001c0007t0002g0083 a0001c0007t0002g0128 a0001c0014t0003g0045 a0002c0011t0003g0216	10	223	0.0448	517	c.289 others(534): Show c.2897+879_2897+880insCCTTTCCCTCCTCCCCTCTTCCCTCCCT CTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTTCCCCTCCCCTCTCCCTCCCCTTCCCCTCCCCTCTCCCTCC CCTTCCCCTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCCTTCC TCTCCCCTCTCCCTTCCCTTTTGCCTCCTCTCCCCTCCCCTTCCCCTCCC CTCCTCTTCCCCTCCCCTCTCCTTCCCCTTTCCCTCCTCCCCTCTTCCCT CCCTCTCTCTCCTCCCCCTCCCCTCTTCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCCCTCCC CTCTCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCTCCCTCCCCTTCCC CTCCCCTCTCCCTCCCCTTCCTCTCCCCTCTCCCTCCCC	MYT1	ENSG00000196132.14	transcript	ENST00000328439.6	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr20	TogoVar
NEU4_chr2_241804193_241822413	241807495	T T	TCCCTCCT others(510): Show TCCCTCCTCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCC TCAGCCCAGGGACGTCCGCAGGCCACCCTCCCTCCTCCCTCAACCCAGGG ACCTCTGCAGGCCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCA CCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCT CCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAAC CCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTC CGCAGGCCACCCTCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0120 a0001c0005t0001g0120	1	319	0.0031	517	c.-17 others(528): Show c.-1783_-1782insCCCTCCTCCCTCAACCCAGGGACCTCTGCAGGCC ACCCTCCCTCCCTCCTCAGCCCAGGGACGTCCGCAGGCCACCCTCCCTCC TCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCTCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGG GACCTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGG CCACCCTCCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACCCT CCCTCCCCCCTCAACCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCT CAACCCAGGGACCTCCGCAGGCCACCCTCCCTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1697		chr2	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTGTAC others(510): Show CTGTGTACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC TGTATGTATGTATACCGTATATATACACAGTATGTATACCGTATATATAC ACAGTATGTATACCGTATATATACACAGTATGTATACCGTATATATACAC AGTATGTATACCGTATATATACACAGTATGTATACTGCATGCAGTATGTA TACTGTATACATACTGCATGCAGTATGTATACTGTATACATACTGCATGC AGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATATATA CACTATACAGTATGTATACTGTATATATACACACAGTATGTATACTGTAT ATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACTGT ATATATACACACAGTATGTATACTGTATATATACACACAGTATGTATACT GTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0028 a0001c0001t0002g0029	2	362	0.0055	517	c.-75 others(536): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTA TACATACTGTGTGTATATATACAGTATACATACTGTATAGTGTATATATA CAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAG TATGTATACAGTATACATACTGCATGCAGTATGTATACAGTATACATACT GCATGCAGTATACATACTGTGTATATATACGGTATACATACTGTGTATAT ATACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACATACAGTATACAT ACATACAGTATACATACATACAGTATACATACATACAGTATACATGCTGT ATACAGTATACATGCTGTATACAGTATACATGCTGTACACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOC4L_chr12_132139457_132157468	132149664	C C	CACACCAC others(510): Show CACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCTCGCTCACACCACA CCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCT CCTACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATC CCCTCGGTGAGTGCGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCG GTGAGTGCCGCCGCCTCG	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	294	0.0034	517	c.901 others(532): Show c.901+769_901+770insACACCACACCCCTAATCCCCTCGGTGAGTG CCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCT CGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCA CACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCCTACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCCCTAATCC CCTCGGTGAGTGCCGCCGCCTCACTCACACCACACCCCTAATCCCCTCGG TGAGTGCGGCCGCCTCGCTCCTACCACACCCCTAATCCCCTCGGTGAGTG CGGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCAC TCACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACAC CACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCG	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14			chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768582	G G	GGAGGGAG others(510): Show GGAGGGAGAGGGAAAGGGGGAGGGAGGGGGAGAGGGGGGACAGGGAGGGA GGGAGAGGGAGGGGTAGGGGGAGAGGGGGGACAGAGAGGGAGGGGGAGGG GGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGAGAGGGAGGGAGAGG GACAGGGAGAGGGAGAGAGAGGGAGGGAGAGAGGGAGAGGGAGGGGAGGG GGAGAGGGAGGGGAGGGGGAGAGGGGGGAGAGAGAGGGAGGGGGCGGGAG GGGAGGGAGGGGGAGGGAGAGGGACAGGGAGAGGGAGGGAGAGGGAGGGA GAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGGGAGAGGGAGAGG GAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGGAGGGGGAGGGAGAGG GATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGACAGGGGGAGGGAGA AGGAGAGGGAGAGGGGGAGGGAGAGGGAGAGAGAGGGAGAGGGAGAGAGA GGGAAAGGGAGTGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA20300.hp2 NA18522.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0166 a0001c0001t0036g0272 a0001c0001t0036g0166 a0001c0001t0036g0272	2	386	0.0052	517	c.92 others(528): Show c.9246_*9247insTCTCTCACTCCCTTTCCCTCTCTCTCCCTCTCCC TCTCTCTCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCCTCCCCCTGTC CCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCTC CCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTCCCTCTCCCTC CCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTCCCTCTCCCTC CCTCTCCCTGTCCCTCTCCCTCCCCCTCCCTCCCCTCCCGCCCCCTCCCT CTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCTCCCCTCCCTCTC CCTCTCTCCCTCCCTCTCTCTCCCTCTCCCTGTCCCTCTCCCTCCCTCTC TCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCCCCCCTCCCCCTCCCTCT CTGTCCCCCCTCTCCCCCTACCCCTCCCTCTCCCTCCCTCCCTGTCCCCC CTCTCCCCCTCCCTCCCCCTTTCCCTCTCCCTC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3727		chr12	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(510): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATAGGATATATATAATATAGTATATATAGTATATATACTCTATAGTAT ATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTATAGAGTATATATACTATATATA CTCTATAGTATATATAGTATATATACTATAGAGTATATATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	439	0.0023	517	c.-16 others(528): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATAGGATATATATAATATAGTATATATAGTATA TATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTATA TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTATAGAGTA TATATACTATATATACTCTATAGTATATATAGTATATATACTATAGAGTA TATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
OR11H4_chr14_20234286_20249349	20237654	A A	ATAGTATA others(510): Show ATAGTATATATAGTATATAGTATATATAGTATATATAGGATATATAGGAT ATATATAATATAGTATATATAGTATATATACTCTATAGTATATATAGTAT ATATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACT CTATAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGT ATATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGT ATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATACTATATATACTCTATAGTATATATAGTATATATA CTATAGAGTATATATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGTATATATAGTATATATACTCTATAGTATATATA GTATATATACTCTATAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp2 NA19006.hp2 NA18948.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0002 a0001c0001t0001g0009	2	439	0.0046	517	c.-16 others(528): Show c.-1689_-1688insTAGTATATATAGTATATAGTATATATAGTATATA TAGGATATATAGGATATATATAATATAGTATATATAGTATATATACTCTA TAGTATATATAGTATATATAGTATATATACTCTATAGTATATATAGTATA TATAGTATATATACTCTATAGTATATATAGTATATATAGTATATATACTC TATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAGTA TATATACTCTATAGTATATATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTCTATAGTATATATAGTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATACTATATATACTCTATAGTA TATATAGTATATATACTATAGAGTATATATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGTATATATAGTATATATAC TCTATAGTATATATAGTATATATACTCTATAGT	OR11H4	ENSG00000176198.4	transcript	ENST00000641082.1	protein_coding		1631		chr14	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(510): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATAACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTAATACATATATGTAT TACATATATAACATATATGTAATACATATATGTATTACATATATAACATA TATGTAATACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAATATGTATTACATAT ATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	400	0.0025	517	c.70 others(528): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATAACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT AATACATATATGTATTACATATATAACATATATGTAATACATATATGTAT TACATATATAACATATATGTAATACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ATATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(510): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTAATACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATGTATTACATAT ATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	400	0.0025	517	c.70 others(528): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(510): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTAATACATATATAACATATATGTATTACATATA TGTAATACATATATAACATGTATGTATTACATATATGTAATACATATATA ACATATATGTATTACATATATGTAATACATATATAACATGTATTACATAT ATGTAATACACATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	400	0.0025	517	c.70 others(528): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATAACATATATGT ATTACATATATGTATTACATATATAACATATATGTATTACATATATGTAT TACATATATAACATATATGTATTACATATATGTAATACATATATAACATA TATGTATTACATATATGTAATACATATATAACATGTATGTATTACATATA TGTAATACATATATAACATATATGTATTACATATATGTAATACATATATA ACATGTATTACATATATGTAATACACATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar

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Search Results (Total: 10000 hits)