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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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
F13A1_chr6_6139084_6325662	6261821	T T	TGTGCTCC others(807): Show TGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCG TGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCA GGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATG TGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTG GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCT CCAGGTGATTCTGAA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02257.hp1 HG04184.hp2 others(2): Show HG01167.hp2 HG02257.hp1 HG04184.hp2 NA18962.hp1 NA19087.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0156 a0001c0001t0002g0018 a0001c0001t0002g0139 others(2): Show a0001c0001t0001g0156 a0001c0001t0002g0018 a0001c0001t0002g0139 a0002c0002t0001g0025 a0002c0002t0002g0020	5	292	0.0171	814	c.571 others(831): Show c.571+4736_571+4737insTTCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC ACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACA TCAGAATCACCTGGAGGGTCACCACGCTTGGAGCAC	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261821	T T	TGTGCTCC others(807): Show TGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCG TGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCA GGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATG TGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTG GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACT CTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCT CCAGGTGATTCTGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02622.hp1 HG02809.hp1 others(3): Show HG01081.hp2 HG02622.hp1 HG02809.hp1 HG02965.hp1 HG03225.hp1 HG03516.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0011	a0001c0001 a0003c0003 a0004c0004 others(1): Show a0001c0001 a0003c0003 a0004c0004 a0011c0018	a0001c0001t0004 a0003c0003t0001 a0003c0003t0002 others(3): Show a0001c0001t0004 a0003c0003t0001 a0003c0003t0002 a0004c0004t0002 a0004c0004t0009 a0011c0018t0002	a0001c0001t0004g0076 a0003c0003t0001g0116 a0003c0003t0002g0115 others(3): Show a0001c0001t0004g0076 a0003c0003t0001g0116 a0003c0003t0002g0115 a0004c0004t0002g0275 a0004c0004t0009g0012 a0011c0018t0002g0113	6	292	0.0206	814	c.571 others(831): Show c.571+4736_571+4737insTTCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGAGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC ACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACA TCAGAATCACCTGGAGGGTCACCACGCTTGGAGCAC	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261843	T T	TCCAGGTG others(807): Show TCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCT GATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAG CGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTC CAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGA TGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCG TGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCA GGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATG TGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTG GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGAAGTGCTCC AAGCGTGGTGACCCC	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	292	0.0034	814	c.571 others(831): Show c.571+4714_571+4715insGGGGTCACCACGCTTGGAGCACTTCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC ACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCA CATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACC TGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCA CGCTTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACA TCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTG GAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACG CTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATC AGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGA GGGTCACCACGCTTGGAGCACATCAGAATCACCTGG	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
F13A1_chr6_6139084_6325662	6261984	G G	GTGACCCT others(807): Show GTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGG TGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTG CTCCAAGCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGT GACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTG ATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCT CCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGA CCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGCTGACCCTCCAGGTGAT TCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCC AAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACC CTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTC TGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAA GCGTGCTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCT CCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTG ATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGC GTGGTGACCCTCCAGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCC AGGTGATTCTGATGTGCTCCAAGCGTGGTGACCCTCCAGGTGATTCTGAT GTGCTCCAAGCGTGC	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	292	0.0034	814	c.571 others(831): Show c.571+4573_571+4574insGCACGCTTGGAGCACATCAGAATCACCT GGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCAC GCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACAT CAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGG AGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGC TTGGAGCACATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCA GAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAG GGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTT GGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGA ATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGG TCAGCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGG AGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAGCACATCAGAAT CACCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTC ACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCACCACGCTTGGAG CACATCAGAATCACCTGGAGGGTCAGCACGCTTGGAGCACATCAGAATCA CCTGGAGGGTCACCACGCTTGGAGCACATCAGAATCACCTGGAGGGTCAC CACGCTTGGAGCACATCAGAATCACCTGGAGGGTCA	F13A1	ENSG00000124491.16	transcript	ENST00000264870.8	protein_coding	4/14			chr6	TogoVar
FBXL14_chr12_1560993_1599581	1574377	G G	GGTGTGGG others(807): Show GGTGTGGGTGGAGGCTGGGGTAAGAGGAGGCTGGTGGCAGCGGTGTGGAT GGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCACTGTGGATGGAGGCTGGG GTGAGGGGAGGCTGGTGGCAGCCGTGTGGGTGGAGGCTGGGGTGAGGGGA GGCTGGGGTGAGAGGAGGCTGGTGGCAGCAGTGTGGGTGGAGGCTGGGGT GGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGAGGAGGC TGGTGGCAGCAGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGGGTGGG GGAGGCTGGTGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGGGGGAGGCT GGCGGCAGCAGCGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGC AGCGGTGTGGGTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTG GGTGGAGGCTGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGGTGGAGGC TGGGGTGGGGGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTAGG GGAGGCTGGCGGCAGCAGCGGTGTGGGCGGAGGCTGGGGTGAGGGGAGGC TGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGGAGGCTGGCAGCAG CGGTGTGGGTGGAGGCTGGGGTGAGGGGAGGCTGGTGGCAGCGGTGTGGA TGGAGGCTGGGGTGGGGGAGGCTGGCGGCAGCAGCGGTGTGGGTGGAGGC TGGGTGAGGAGGCTGGTGGCAGCGGTGTGGATGGAGGCTGGGGTGAGGGG AGGCTGGTGGCAGCA	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0098 a0001c0001t0030g0098	1	418	0.0024	814	c.119 others(833): Show c.1195-7568_1195-7567insTGCTGCCACCAGCCTCCCCTCACCCC AGCCTCCATCCACACCGCTGCCACCAGCCTCCTCACCCAGCCTCCACCCA CACCGCTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGCT GCCACCAGCCTCCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCAGC CTCCCCTCACCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCTCA CCCCAGCCTCCGCCCACACCGCTGCTGCCGCCAGCCTCCCCTACCCCAGC CTCCATCCACACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCA CACCGCTGCCACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCTGC CACCAGCCTCCCCCCACCCCAGCCTCCACCCACACCGCTGCCACCAGCCT CCCCTCACCCCAGCCTCCACCCACACCGCTGCTGCCGCCAGCCTCCCCCA CCCCAGCCTCCACCCACACCGCTGCTGCCACCAGCCTCCCCCACCCCAGC CTCCCCTCACCCCAGCCTCCACCCACACTGCTGCCACCAGCCTCCTCTCA CCCCAGCCTCCATCCACACCGCTGCCACCAGCCTCCCCCACCCCAGCCTC CACCCACACTGCTGCCACCAGCCTCCTCTCACCCCAGCCTCCCCTCACCC CAGCCTCCACCCACACGGCTGCCACCAGCCTCCCCTCACCCCAGCCTCCA TCCACAGTGCTGCCGCCAGCCTCCCCCACCCCAGCCTCCATCCACACCGC TGCCACCAGCCTCCTCTTACCCCAGCCTCCACCCACAC	FBXL14	ENSG00000171823.7	transcript	ENST00000339235.4	protein_coding	1/1			chr12	TogoVar
FER_chr5_108742897_109201841	108930372	T T	TTCCCTCC others(807): Show TTCCCTCCCCTCTCCTCTCCCCTCCTTCCCCTCCCCTCTCCTCTCCCCTC CCCTCCCCCCCTTCCTCTGCCCTCCCTTCCCCTCCCCCCTCCTCCTCTCC TCTCCCCTCTTTTCCTCCCCTCCCCTTCTCCTCCCATCCCTTCCCTTATC CTCCCCTTCTCCTCCCCTCACCTTCTCCTCTCCTCCCCTCCCCTTCTCCT CTCCTCTCCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTC CTCTCCTCCTCTCACCTCCCTTCTCCTCCCCTCCCCTTCTCCTGTCCTCC CCTCCCCTTCTCCTCTCCTCCCCTTCTCTTCCCTTCCCCTCCCCTCCCCT TTTCCTCCCCTCCCTGCCCCTCCCCTCTCCTCCCGTCTCCTCCCTTCCCC TCTCTTCCCCTCCTCTTCTCCCCTCCCCTCCCCCTCTCCTCCCTTCCTCG CCCCTCCCCTTTTTCTCTCTTCCCCTCCCTTTCCCACCCCTTCTCCTCCC CTCTTCCCCTCTTTTCCCTCCCCTCCTTTTTTCCTCCCCTTCTTCTCCCC TCCCCTTCTCCTCTCCTCCCCTCCCCTCCCCTTTTCCACCCCTTTTCCTC TTCTTTTCTTCCTCTCCCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCC TCCCCTCTGCCTCTCCTCCCCTCCCCTTTTTCTCCCCTCCCCTCCCTGCC TCTTCTCCTTTCCTCCCTTCCCCTCCCCTCCCCTCTCCTTTCCCTCCCCT CCCCTCCCTTTCCTGCCCCTTCTCCTCACCTCTCTTCCCCTCCCCTCTCT TCCCCTCTCCTTTCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0109 a0001c0016t0002g0109	1	138	0.0073	814	c.123 others(835): Show c.1237-15754_1237-15753insTCCCCTCTCCTCTCCCCTCCTTCC CCTCCCCTCTCCTCTCCCCTCCCCTCCCCCCCTTCCTCTGCCCTCCCTTC CCCTCCCCCCTCCTCCTCTCCTCTCCCCTCTTTTCCTCCCCTCCCCTTCT CCTCCCATCCCTTCCCTTATCCTCCCCTTCTCCTCCCCTCACCTTCTCCT CTCCTCCCCTCCCCTTCTCCTCTCCTCTCCTCCCCTCCCCTTCTCCTCTC CTCTCCTCCCCTCCCCTTCTCCTCTCCTCCTCTCACCTCCCTTCTCCTCC CCTCCCCTTCTCCTGTCCTCCCCTCCCCTTCTCCTCTCCTCCCCTTCTCT TCCCTTCCCCTCCCCTCCCCTTTTCCTCCCCTCCCTGCCCCTCCCCTCTC CTCCCGTCTCCTCCCTTCCCCTCTCTTCCCCTCCTCTTCTCCCCTCCCCT CCCCCTCTCCTCCCTTCCTCGCCCCTCCCCTTTTTCTCTCTTCCCCTCCC TTTCCCACCCCTTCTCCTCCCCTCTTCCCCTCTTTTCCCTCCCCTCCTTT TTTCCTCCCCTTCTTCTCCCCTCCCCTTCTCCTCTCCTCCCCTCCCCTCC CCTTTTCCACCCCTTTTCCTCTTCTTTTCTTCCTCTCCCCTCTCCTCCCC TCCCCTCTGCCTCTCCTCCCCTCCCCTCTGCCTCTCCTCCCCTCCCCTTT TTCTCCCCTCCCCTCCCTGCCTCTTCTCCTTTCCTCCCTTCCCCTCCCCT CCCCTCTCCTTTCCCTCCCCTCCCCTCCCTTTCCTGCCCCTTCTCCTCAC CTCTCTTCCCCTCCCCTCTCTTCCCCTCTCCTTTCCTCCC	FER	ENSG00000151422.14	transcript	ENST00000281092.9	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
FHIT_chr3_59742277_61256452	59986774	A A	ATATACAT others(807): Show ATATACATATATTTATATATATATAAATATATTTATATAAATATATAAAT ATATATATATAAATATATATAAAACTAAATATGTAAATATATTATAAATA TAAATACATAAAAATATTTTAAAAATTTTAAAAATATATAAATATATTTA TATAAATATATAAATATATAAATATATTTATATAAATATATAAATATATA TATTTATATAAATATATAAATATATAAATATAAATATATTTATATAAATA TATAAATATATAAATATAAATATATTTATATAAATATATAAATATAAATA TATTTATATAAATATATAAATATAAATATATTTATATAAATATATAAATA TAAATATATTTATATAAATATATAAATATAAATATATTTATATAAATATA TTTATATAAATATATAAATATAAATATATTTATATAAATAAATATAAATA TATTTATATAAATAAATATAAATATATTTATATAAATATATAAATATAAA TATATTTATATAAATATATAAATATAAATATATTTATATAAATATATAAA TATATAAATATAAATATATTTATATAAATATATAAATATAAATATATTTA TATAAATATATAAATATAAATATATTTATATAAATATATAAATATAAATA TATTTATATAAATATATAAATATATAAATATAAATATATTTATATAAATA TATAAATATATAATATAAATATATTTATATAAATATATAAATATATAATA TAAATATATTTATATTATATATTTATATAAATATATTTATATAAATATAT AAATATAAATATATT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	46	0.0217	814	c.279 others(833): Show c.279+24596_279+24597insAATATATTTATATTTATATATTTATA TAAATATATTTATATAAATATATAATATAAATATATTTATATTATATATT TATATATTTATATAAATATATTTATATTATATATTTATATATTTATATAA ATATATTTATATTTATATATTTATATATTTATATAAATATATTTATATTT ATATATTTATATAAATATATTTATATTTATATATTTATATAAATATATTT ATATTTATATATTTATATAAATATATTTATATTTATATATTTATATATTT ATATAAATATATTTATATTTATATATTTATATAAATATATTTATATTTAT ATATTTATATAAATATATTTATATTTATTTATATAAATATATTTATATTT ATTTATATAAATATATTTATATTTATATATTTATATAAATATATTTATAT AAATATATTTATATTTATATATTTATATAAATATATTTATATTTATATAT TTATATAAATATATTTATATTTATATATTTATATAAATATATTTATATTT ATATATTTATATAAATATATTTATATTTATATATTTATATATTTATATAA ATATATTTATATTTATATATTTATATATTTATATAAATATATATATTTAT ATATTTATATAAATATATTTATATATTTATATATTTATATAAATATATTT ATATATTTTTAAAATTTTTAAAATATTTTTATGTATTTATATTTATAATA TATTTACATATTTAGTTTTATATATATTTATATATATATATTTATATATT TATATAAATATATTTATATATATATAAATATATGTATA	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9			chr3	TogoVar
FHIT_chr3_59742277_61256452	60861213	T T	TATATATC others(807): Show TATATATCATATATGATATATATGATATATATCATATATGATATATATGA TATATATCATATATGATATATATGATATATATCATATATGATATATATCA TATATGATATATATGATATATATCATATATGATATATATGATATATGATA TATATCATATATATATCATATATGATATATATCATATATATCATATATGA TATATATCATATCATATATGATATATATCATATATGATATATATCATATC ATATATGATATATATCATATATATCATATCATATATGATATATATCATAT CATATATGATATATATCATATATATCATATCATATATGATATATATCATA TATATCATATCATATATGATATATATGATATATATGATATATCATATCAT ATCATATATGATATATATGATATATATGATATATCATATCATATCATATA TGATATATATGATATATATGATATATCATATATATCATATATGATATATA TGATATATATGATATATCATATCATATCATATATGATATATATGATATAT ATGATATATCATATATATCATATATGATATATATGATATATATGATATAT CATATCATATCATATATGATATATATGATATATATGATATATCATATATA TCATATATGATATATATGATATATATGATATATCATATCATATCATATAT GATATATATGATATATATGATATATCATATCATATCATATATGATATATA TGATATATATGATATATCATATCATATCATATATGATATATATGATATAT ATGATATATCATATC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	46	0.0217	814	c.-11 others(835): Show c.-110-39203_-110-39202insGATATGATATATCATATATATCAT ATATATCATATATGATATGATATGATATATCATATATATCATATATATCA TATATGATATGATATGATATATCATATATATCATATATATCATATATGAT ATGATATGATATATCATATATATCATATATATCATATATGATATATATGA TATATCATATATATCATATATATCATATATGATATGATATGATATATCAT ATATATCATATATATCATATATGATATATATGATATATCATATATATCAT ATATATCATATATGATATGATATGATATATCATATATATCATATATATCA TATATGATATATATGATATATCATATATATCATATATATCATATATGATA TGATATGATATATCATATATATCATATATATCATATATGATATGATATGA TATATCATATATATCATATATATCATATATGATATGATATATATGATATA TATCATATATGATATGATATATATGATATATATCATATATGATATGATAT ATATCATATATGATATGATATATATGATATATATCATATATGATATGATA TATATCATATATGATATATATCATATATGATATGATATATATCATATATG ATATATATGATATATATCATATATGATATATATATGATATATATCATATA TCATATATATCATATATGATATATATCATATATATCATATATGATATATA TCATATATGATATATATCATATATATCATATATGATATATATCATATATA TCATATATGATATATATCATATATATCATATATGATATAT	FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	3/9			chr3	TogoVar
GPIHBP1_chr8_143208218_143222170	143218187	C C	CCCAACAC others(807): Show CCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCA ACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCAACACC ACCCCAACACCACCCCAACACCACCCCAACACCACCCCAACACCACCCCC AACACCACCCCAACACCACCCCAACACCACCCAACACCACCACCACCACC CACCACCACCCACCACAAGGCCCAACACACCCACAACTCCACCCCCACAC CACCCCCACACCACCCCAACACCACCCCAACACCACCCCCAACACCACCC CAACACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAAC ACCACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACC ACCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCC CAACACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCAAC ACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCAACACCA CCCCCAACACCATCCCCAACACCACCCCAACACCACCCCCAACACCACCC CAACACCACCCCAACACCACCCCAACACCACCCCCAACACCATCCCCAAC ACCACCCCAACACCACCCCAACACCACCCCAACACCATCCCCAACACCAC CCAACACCACCCAACACCATCCCCAACACCACCCCAACACCACCCCCAAC ACCACCCCAACACCACCCCAACACCACCCCAACACACCCCACACCACCAA CACCACCCACCACCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0005 a0001c0001t0020g0005	1	106	0.0094	814	c.26 others(825): Show c.2669_*2670insCCAACACCACCCCCAACACCACCCCAACACCACC CCCAACACCACCCCAACACCACCCCAACACCACCCCCAACACCACCCCAA CACCACCCCAACACCACCCCAACACCACCCCAACACCACCCCAACACCAC CCCAACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCAAC ACCACCACCACCACCCACCACCACCCACCACAAGGCCCAACACACCCACA ACTCCACCCCCACACCACCCCCACACCACCCCAACACCACCCCAACACCA CCCCCAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCC CAACACCACCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAAC ACCACCCCCAACACCACCCCCAACACCACCCCAACACCACCCCCAACACC ACCCCAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCC CAACACCACCCCAACACCACCCCCAACACCACCCCCAACACCACCCCAAC ACCACCCCAACACCACCCCCAACACCATCCCCAACACCACCCCAACACCA CCCCCAACACCACCCCAACACCACCCCAACACCACCCCAACACCACCCCC AACACCATCCCCAACACCACCCCAACACCACCCCAACACCACCCCAACAC CATCCCCAACACCACCCAACACCACCCAACACCATCCCCAACACCACCCC AACACCACCCCCAACACCACCCCAACACCACCCCAACACCACCCCAACAC ACCCCACACCACCAACACCACCCACCACCA	GPIHBP1	ENSG00000277494.2	transcript	ENST00000622500.2	protein_coding		1018		chr8	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(807): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCTGGCCAG CCGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCC GCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGG CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCCGCCCGG GAGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0281 a0001c0001t0002g0281	1	334	0.0030	814	c.369 others(831): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGG CCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACG GAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGGG GGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(807): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGGTCAGCCCCCCCGCCCGGCCAG CCGCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGC CGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGG GCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGG GAGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0272 a0001c0001t0002g0272	1	334	0.0030	814	c.369 others(831): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGCC GACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCC GGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCG GACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGGCG GCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGACGG AGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCGGG GGGGCTGACCCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(807): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGGGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGG GCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCG GCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCGGG CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGGC CAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCGCCCGG GAGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	334	0.0030	814	c.369 others(831): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGC CGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGC TCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGAC GGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599475	G G	GGTCAGCC others(807): Show GGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAG CCACCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGC CGCCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCG CCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GTGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGG GGTCGGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGG GGGGGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCGGG CCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCACCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGG GAGGGAGGTGGGGGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0004 a0005c0009t0004	a0005c0009t0004g0183 a0005c0009t0004g0183	1	334	0.0030	814	c.369 others(831): Show c.369+2894_369+2895insACCCCCACCTCCCTCCCGGGCGGGGGGC CGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGGGGG CCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGG CTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC GGACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCTCCC TCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCGGAC GGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGCTGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
IFT140_chr16_1505427_1617072	1599478	C C	CAGCCCCC others(807): Show CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCT GCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGCCA CCCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCCACCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCCGC CCCGTCCGGGAGGGAGATGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CTGTCCGGGAGGGAGGTGGGGGGGTCAGCCCTCCGTCCGGCCAGCCGCCC CGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTG AGGAGCCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGG GTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTG TCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGT CGGCCCCCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAGGTGGGGGGGGG GGCCAGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCGGGCCA GCCACCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCACCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGGAGG GAGGTGGGGGTGTCG	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0231 a0001c0001t0002g0231	1	334	0.0030	814	c.369 others(831): Show c.369+2891_369+2892insCGACACCCCCACCTCCCTCCCGGGCGGG GGGCCGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGTGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGTGGCTGGCCCGGCGGGG GGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCTGGCCCCCCCCCCCACCT CCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACACCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCTCCTCACTTCCCAGTAG GGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCG GACGGAGGGCTGACCCCCCCACCTCCCTCCCGGACAGGGCGGCTGGCCGG GCGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGCGGCTGGCCAGG CGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGT GGGGGGGCTGACCCCCCCATCTCCCTCCCGGACGGGGTGGCTGGCCGGGC TGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT	IFT140	ENSG00000187535.14	transcript	ENST00000426508.7	protein_coding	4/30			chr16	TogoVar
KIF25_chr6_167992671_168050091	167997208	G G	GGGGGCGG others(807): Show GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG CGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCG GGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGA CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGT CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCG GGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGGG CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGTCG GGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGCGA CGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGA CGGGGGAATCTGCAGAGATGGGGGCGGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCGG GGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGG GGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGG GGAATCTGCAGAGGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0342 a0003c0004t0005g0342	1	375	0.0027	814	c.-22 others(825): Show c.-2261_-2260insGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGG AATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAAT CTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCT GCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCT GCAGAGATGGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCT GCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCA GAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGGT	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		462		chr6	TogoVar
KIF25_chr6_167992671_168050091	167997395	A A	ATCTGCAG others(807): Show ATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGA ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATC TGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCT GCAGAGATGGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCT GCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCT GCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTG CAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGC AGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGC AGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCA GAGATGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGGAATCTGCA GAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAG GTGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	375	0.0027	814	c.-20 others(825): Show c.-2074_-2073insTCTGCAGAGATGGGGCGACGGGGGAATCTGCAGA GATGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT GGGGCGACGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGG GGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAATCTGCAGAGATG GGGGCGGGGGAATCTGCAGAGATGGGGGGTCGGGGGAATCTGCAGAGATG GCGACGGGGGAATCTGCAGAGATGGGGGTCGGGGGAATCTGCAGAGATGG GGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGG GGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGG GTCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGG GCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGG TCGGGGGAATCTGCAGAGATGGCGACGGGGGAATCTGCAGAGATGGGGGG CGGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGC GGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCG GGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGGCCGG GGGAATCTGCAGAGATGGGGGGCGGGGGAG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		275		chr6	TogoVar
LAMA5_chr20_62304065_62372312	62349741	T T	TGGTGGGG others(807): Show TGGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGATG GTGGGGGTGATGACGGTGGGGCTGGGGGTGATGATGGTGGGGGTGATGAC GGTGATGATGGGGGTGGAGGGGTGATGACGGTGATGATGGGGGTGGGGGG GTGATGACGGTGATGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACG GTGATGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGGGGGT GGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGTGGGGGTGAT GACGGTGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGGTGG GGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGG GTGATGACGGTGGGGTGGGGGTAATGACGGTGGGGTGGGGGTGATGACGG TGGGGGTGGGGGTGATGACGGTGATGGTGGGGGTGATGACGATGATGGTG GGGGTGATGACGGTGATGGCGGTGGGGGTGATGACGGTGGGGGTGGGGGT GATGACGGTGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGG TGGGGGTGGGGGTGATGACGGTGGGGGTGGGGGTGATGACGGTGATGGTA GAGGTGATGATGGTGGGGGTGGGGGTGGGGGTGGGGGTGAGGGTGATGAT GGTGGGGGTGATGATGGTGATGGTGGGGGTGATGATGGTGAGGGTGATGA TGGTGGGGGTGATGGTGGGGGTGGGGGTGGGGGTAATGACGGTGGGGTGG GGGTAATGACGGTGG	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0139 a0002c0003t0001g0139	1	186	0.0054	814	c.956 others(831): Show c.956+1962_956+1963insCCACCGTCATTACCCCCACCCCACCGTC ATTACCCCCACCCCCACCCCCACCATCACCCCCACCATCATCACCCTCAC CATCATCACCCCCACCATCACCATCATCACCCCCACCATCATCACCCTCA CCCCCACCCCCACCCCCACCCCCACCATCATCACCTCTACCATCACCGTC ATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCA CCGTCATCACCCCCACCGCCATCACCGTCATCACCCCCACCATCATCGTC ATCACCCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCC CACCCCACCGTCATTACCCCCACCCCACCGTCATCACCCCCACCCCCACC GTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCATCAC CCCCACCATCACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACAT CACCGTCATCACCCCCACCCCCACCGTCATCACCCCCACCCCCACCGTCA TCACCCCCACCATCACCGTCATCACCCCCACCATCACCGTCATCACCCCC ACCCCCACCGTCATCACCCCCACATCACCGTCATCACCCCCCCACCCCCA TCATCACCGTCATCACCCCTCCACCCCCATCATCACCGTCATCACCCCCA CCATCATCACCCCCAGCCCCACCGTCATCACCCCCACCATCACCATCATC ACCCCCACCCCCACCATCACCACCCCCACCCCCACC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79			chr20	TogoVar
LORICRIN_chr1_153254687_153267124	153256713	A A	AGTCACAT others(807): Show AGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACT ATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATAT GTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTAAATATAGTCATATATGTATATAAAACTATAT ATAGTTATATGTATATAAAACTATATATAGTTATATGTATATAAAACTAT AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATAT AAAACTATATAGTCATATATGTATATAAAACTATATACAGTCATATATGT ATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATAGTTATATATGTATATAAAACTATATAGTTATATATGTATATAAAA CTATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACT ATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAG TTATATATGTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG02257.hp2 others(17): Show HG02109.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02886.hp2 HG02976.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03471.hp2 HG03516.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp2 NA21309.hp1	a0004 a0009 a0010 a0004 a0009 a0010	a0004c0004 a0009c0019 a0010c0018 a0004c0004 a0009c0019 a0010c0018	a0004c0004t0001 a0009c0019t0001 a0010c0018t0001 a0004c0004t0001 a0009c0019t0001 a0010c0018t0001	a0004c0004t0001g0001 a0004c0004t0001g0009 a0009c0019t0001g0001 others(1): Show a0004c0004t0001g0001 a0004c0004t0001g0009 a0009c0019t0001g0001 a0010c0018t0001g0001	20	422	0.0474	814	c.-30 others(825): Show c.-3044_-3043insGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATA AAACTATATATAGTCACATATGTATATAAAACTAAATATAGTCATATATG TATATAAAACTATATATAGTTATATGTATATAAAACTATATATAGTTATA TGTATATAAAACTATAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATAGTCATATATGTATATAAAACTATA TACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATAGTTATATATGTATATAAAACTATATAGTTA TATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATA TATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATA TGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTAAAAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2973		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256713	A A	AGTCACAT others(807): Show AGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACT ATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATAT GTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAAAT ATAGTCATATATGTATATAAAACTATATATAGTTATATGTATATAAAACT ATATATAGTTATATGTATATAAAACTATAGTCATATATGTATATAAAACT ATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATAT AAAACTATATACAGTCATATATGTATATAAAACTATATAGTCATATATGT ATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATAGTTATATATGTATATAAAACTATATAGTTATATATGTATATAAAA CTATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACT ATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAG TTATATATGTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	422	0.0024	814	c.-30 others(825): Show c.-3044_-3043insGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATA AAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATG TATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTA TATGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATA TATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATAGTTATATATGTATATAAAACTATATAGTTA TATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATA TATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATA TGTATATAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TATGTAAAACTATAGTTATATATGTAAAAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2973		chr1	TogoVar
LORICRIN_chr1_153254687_153267124	153256713	A A	AGTCACAT others(807): Show AGTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACT ATATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATAT AAAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATAT GTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATAGTC ACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTAAAT ATAGTCATATATGTATATAAAACTATATATAGTTATATGTATATAAAACT ATATATAGTTATATGTATATAAAACTATAGTCATATATGTATATAAAACT ATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTATAT AAAACTATATACAGTCATATATGTATATAAAACTATATAGTCATATATGT ATATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCAT ATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATAC AGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACT ATATAGTTATATATGTATATAAAACTATATAGTTATATATGTATATAAAA CTATAGTTATATATGTATATAAAACTATAGTTATATATGTATATAAAACT ATAGTTATATATGTATATAAAACTATAGTTATATATGTATGTAAAACTAT AGTTATATATGTATGTAAAACTATAGTTATATATGTAAAACTATAGTTAT ATATGTATGTAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	422	0.0024	814	c.-30 others(825): Show c.-3044_-3043insGTCACATATGTATATAAAACTATATATAGTCACA TATGTATATAAAACTATATATAGTCACATATGTATATAAAACTATATATA GTCACATATGTATATAAAACTATATATAGTCACATATGTATATAAAACTA TATATAGTCACATATGTATATAAAACTATATATAGTCACATATGTATATA AAACTATATATAGTCACATATGTATATAAAACTATATATAGTCACATATG TATATAAAACTAAATATAGTCATATATGTATATAAAACTATATATAGTTA TATGTATATAAAACTATATATAGTTATATGTATATAAAACTATAGTCATA TATGTATATAAAACTATATACAGTCATATATGTATATAAAACTATATACA GTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAAACTA TATAGTCATATATGTATATAAAACTATATACAGTCATATATGTATATAAA ACTATATACAGTCATATATGTATATAAAACTATATACAGTCATATATGTA TATAAAACTATATACAGTCATATATGTATATAAAACTATATACAGTCATA TATGTATATAAAACTATATAGTTATATATGTATATAAAACTATATAGTTA TATATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATA TATGTATATAAAACTATAGTTATATATGTATATAAAACTATAGTTATATA TGTATGTAAAACTATAGTTATATATGTATGTAAAACTATAGTTATATATG TAAAACTATAGTTATATATGTATGTAAAAC	LORICRIN	ENSG00000203782.6	transcript	ENST00000368742.4	protein_coding		2973		chr1	TogoVar
LRP8_chr1_53237364_53333070	53283749	C C	CCACTTAC others(807): Show CCACTTACTTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCT ACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTAC TTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCC GCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACC CGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTA CATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTAC CTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTT ACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGG CCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATA CCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTAC TACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTT ACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCGGGCCGC TTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACATACCCG GGCCGCTTACTTACCTACTACATACCCGGGCCGCTTACTTACCTACTACA TACCCGGGCCGCTTA	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19091.hp1 NA19065.hp1 NA19091.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0029 a0002c0003 a0005c0029	a0002c0003t0003 a0005c0029t0003 a0002c0003t0003 a0005c0029t0003	a0002c0003t0003g0067 a0005c0029t0003g0275 a0002c0003t0003g0067 a0005c0029t0003g0275	2	296	0.0068	814	c.368 others(831): Show c.368-3035_368-3034insTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTAT GTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCC GGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAG CGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTA AGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAG TAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGT ATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGC CCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTA AGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGG TAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGT AGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGG GTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCG GCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTAGGTAAG TAAGCGGCCCGGGTATGTAGTAGGTAAGTAAGCGGCCCGGGTATGTAGTA GGTAAGTAAGCGGCCCGGGTATGTAGTAAGTAAGTG	LRP8	ENSG00000157193.18	transcript	ENST00000306052.12	protein_coding	3/18			chr1	TogoVar
LSS_chr21_46183446_46233774	46184511	C C	CCAACCCA others(807): Show CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCA CCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCA CCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GATGGGTACTCAGGACCACCACCAACCCAGTGGGCCGGCCACACCTCCAG CCCTGTGACGGGCACTCAGGACCACCAACAACCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGG CCACACCTCCAGCCCTGTGACGGGCACCCCACCACCACCAACCCAGTGGG CCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGT GGGCCGGCCACACCTCCAGCCCTGTGATGGGCACCCACCACCACCAACCC AGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCAA CCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGACCAC CACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACTCAG GACCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGT ACTCAGGACCACCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0015 a0002c0002t0002g0015	1	358	0.0028	814	c.65 others(825): Show c.6592_*6593insTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAG GTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGAGTGCCCGTCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTCCTGAGTACCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTG CCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGG GTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTG GTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGG TTGTTGGTGGTCCTGAGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCC ACTGGGTTGGTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGC CGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGT GGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGGCTGGAGG TGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGG AGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGC TGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAG GGCTGGAGGTGTGGCCGGCCCACTGGGTTG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3934		chr21	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(807): Show CCTCCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCT CCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTC CCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCCGTC CCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCC CTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCC CCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCCT CCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTC TCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTT CCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTC CCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCT CCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCT CCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCTTC CCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCC ACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCCCATCTCCCCCTC CTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCC CTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCCC TCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01099.hp2 HG03704.hp1 others(1): Show HG00323.hp1 HG01099.hp2 HG03704.hp1 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0007 a0001c0001t0002 a0002c0003t0007	a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0232 others(1): Show a0001c0001t0002g0072 a0001c0001t0002g0083 a0001c0001t0002g0232 a0002c0003t0007g0004	4	276	0.0145	814	c.100 others(833): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCCGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCC CCCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCAC TTTGCTCACTCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTC CCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCA TCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTC CCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTC TCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCA TCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCC ATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCT CTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCC CCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTC CCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCT CCCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACC CCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94348434	C C	CCTCCCCC others(807): Show CCTCCCCCTCTCCCTCACCCCCTCTCCATCACCCTCCCTTCTCTCCCTCT CCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCCCCCTCCCCCTCTTC CCACTGCCTCTCCATCCCATCACCCTCCATCCCCCTCCCCCTCCCCGTCC CCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCCCCTTCCCTCTCCCC TTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACTTTGCTCACTCCCCC CCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTCCCCCTCTTCCCCCT CCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCATCCCCGCTCCCCTC TCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTCCCCCTTTCCCTCTT CCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTCTCCCCATCCCCCTC CCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCATCCCCTCTCCCTCT CCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCCATTCCCCTCCCTCT CCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCTCTTCCCCCCTCTTC CCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCCCCTTCCCCTCCCCC ACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTCCCCATCTCCCCCTC CTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCTCCCTCCCCCTCTCC CTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACCCCTCCCCCTCCCCC TCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0015 a0001c0001t0003g0015	1	276	0.0036	814	c.100 others(833): Show c.1005+3279_1005+3280insTCCCTCACCCCCTCTCCATCACCCTC CCTTCTCTCCCTCTCCATCCACCTCTTCCCCCTCCCCCTCTCCCTCTTCC CCCTCCCCCTCTTCCCACTGCCTCTCCATCCCATCACCCTCCATCCCCCT CCCCCTCCCCGTCCCCTCTCCCTCTCTTCCCTTTCCCCTTTCCCCTTCCC CCTTCCCTCTCCCCTTCCCCTTTCCCCTCTCCCCCTCCCTCTCTCCCACT TTGCTCACTCCCCCCCTCCCTCTCCCCCTTTCCCCTCTCCCCTTCCCCTC CCCCTCTTCCCCCTCCTCCTCATCCCCCTCCTTCTCCATCCCCCTCCCCA TCCCCGCTCCCCTCTCCCTCTCTCCCCTTTATCCCCTCCCCCTCCCCTTC CCCCTTTCCCTCTTCCCCCTCCCCCTCTTCCCTCTCTCTCCTTCCCCCTC TCCCCATCCCCCTCCCCCTCTTCCCTCTCCCTCTCCATCCCCATCCCCCA TCCCCTCTCCCTCTCCATCCCCATCCCCCATCGCCTATCCCTTCTCCCCC ATTCCCCTCCCTCTCCATCCTCCTCCCCATCCCCTCTCCTCTCTCCCCCT CTTCCCCCCTCTTCCCTCTCCCTTCCCCCTTCCCTTCTCCCCCTCTCCCC CCTTCCCCTCCCCCACTCTCCTCCCCCACTCCCCTCCCCATCTCCCCCTC CCCATCTCCCCCTCCTCCTCTTCCCCTCCCCCTCTCCCCCTCCCCACTCT CCCTCCCCCTCTCCCTCCCCCTCTCCCCCTCTCCCCCCTTCTCCCCCACC CCTCCCCCTCCCCCTCTCCCCCTCCCCCTCTCCCCCTC	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	8/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MFRP_chr11_119333942_119351705	119351510	C C	CCTCCTCT others(807): Show CCTCCTCTGTCCTCCCCTCCCCTCCTCTCTCCTCCTCTCTCCTCCCTTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCC CCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCGCT CCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCT CCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCT CCCCTCCCCTCTCTCCTCCGCTCCCCTCCCCTCTCCTCCGCTCCTCTCCC CTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCG CTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCG CTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCC CTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCCTTCCC CTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCCCTCCC CTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCTCTCCC CTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCCCTCCC CTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCTTTCTC CTCCCTTGCCGTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02922.hp1 HG03579.hp1 others(3): Show HG01891.hp1 HG02922.hp1 HG03579.hp1 HG06807.hp2 NA18906.hp1 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0002 a0003c0005t0002 a0003c0005t0016 a0001c0001t0002 a0003c0005t0002 a0003c0005t0016	a0001c0001t0002g0025 a0003c0005t0002g0010 a0003c0005t0002g0070 others(2): Show a0001c0001t0002g0025 a0003c0005t0002g0010 a0003c0005t0002g0070 a0003c0005t0002g0071 a0003c0005t0016g0069	6	318	0.0189	814	c.-49 others(825): Show c.-4998_-4997insAGGACGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGGGAGGAGAGAGGA GGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGA GGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGCGGAGGAGA GGGGAGGGGAGCGGAGGAGAGAGGGGAGGGGAGGGGAGGAGAGAGGAGGG GAGGGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAGGG GAAGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAAGGGAGGAGAGAGGAG GAGAGAGGAGGGGAGGGGAGGACAGAGGAG	MFRP	ENSG00000235718.9	transcript	ENST00000619721.6	protein_coding		4806		chr11	TogoVar
MICAL3_chr22_17782649_18029561	17876764	T T	TAGGGAGC others(807): Show TAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGG AGGTTAGGGAGGTTAGGGAGGTTATGGAGGTTATGGCAGTTATGGAGGTT AGGGAGATTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGCTTATGGA GGTTAGGGAGGTTAAGGAGGTTAGGGAAGTTATGGAGGTTATGGAGGTTA GGGAGGTTATGGAGGTGAGGGAGCTTATGGAGGTTAGGGAGGTTAAGGAG GTTAGGGAGGGTTAGGGTTAGGGTTAGGGAGGTTAGGGAGATTATGGAGG TTAGGGAGGTTATGGAGGTTAGGGAAGTTATGGAGGTTAGGGAGGTTAGG GAGGTTATGGAGGTTATGGCAGTTATGGAGGTTAGGGAGATTATGGAGGT TAGGGAGGTTATGGAGGTTAGGGAGCTTATGGAGGTTAGGGAGGTTAGGG AGGTTATGGAGGTTAGGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTT AGGGAAGTTAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGA GGTGAGGGAGGTTATGGAGGTGAGGGAGGTTATGGAGGTTAGGGAGGTGA GGGAGGTTATGGAGGTTAGGGAGGTTATGGAGGTTAGGGAGGTTAGGGAG GTTATGGAGGTTAGGGAAGTTAGGGAGGTTATGGAGGTGAGGGAGGTTAT GGAGGTTAGGGAGGTTAGGGAGATTATGGAGGTTAGGGAGGTTATGGAGG TTAGGGAAGTTATGGAGGTTAGGGAGGTGAGGGAGGTTATGGAGGTTAGG GAGGTTATGGAGGTG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0002 a0005c0008t0002	a0005c0008t0002g0168 a0005c0008t0002g0168	1	274	0.0037	814	c.224 others(833): Show c.2242-4742_2242-4741insCACCTCCATAACCTCCCTAACCTCCA TAACCTCCCTCACCTCCCTAACCTCCATAACTTCCCTAACCTCCATAACC TCCCTAACCTCCATAATCTCCCTAACCTCCCTAACCTCCATAACCTCCCT CACCTCCATAACCTCCCTAACTTCCCTAACCTCCATAACCTCCCTAACCT CCCTAACCTCCATAACCTCCCTAACCTCCATAACCTCCCTCACCTCCCTA ACCTCCATAACCTCCCTCACCTCCATAACCTCCCTCACCTCCCTAACCTC CATAACCTCCCTCACCTCCATAACCTCCCTAACTTCCCTAACCTCCATAA CCTCCCTCACCTCCCTAACCTCCCTAACCTCCATAACCTCCCTAACCTCC CTAACCTCCATAAGCTCCCTAACCTCCATAACCTCCCTAACCTCCATAAT CTCCCTAACCTCCATAACTGCCATAACCTCCATAACCTCCCTAACCTCCC TAACCTCCATAACTTCCCTAACCTCCATAACCTCCCTAACCTCCATAATC TCCCTAACCTCCCTAACCCTAACCCTAACCCTCCCTAACCTCCTTAACCT CCCTAACCTCCATAAGCTCCCTCACCTCCATAACCTCCCTAACCTCCATA ACCTCCATAACTTCCCTAACCTCCTTAACCTCCCTAACCTCCATAAGCTC CCTAACCTCCATAACCTCCCTAACCTCCATAATCTCCCTAACCTCCATAA CTGCCATAACCTCCATAACCTCCCTAACCTCCCTAACCTCCATAACTTCC CTAACCTCCTTAACCTCCCTAACCTCCATAAGCTCCCT	MICAL3	ENSG00000243156.9	transcript	ENST00000441493.7	protein_coding	16/31			chr22	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(807): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGGGA AAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAAAGGGGT GGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAA AGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAA GGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAGGGGAGG ATGGAGGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGG AGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGA GGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG AAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGGGAGGGAGGGGGAGGG AAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGG GAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGG AGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAG GGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAG GGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	272	0.0037	814	c.250 others(829): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCT CCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCTCCCCTCCCCCCCTCCATCCTCCCCTCACCCCT TTCCCCCTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCC CACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCT TCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTT CCCCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGC CCCTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTC CCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(807): Show AAGGGGGGAAGGGGGGAAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGG GGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGG AGGGGGAAAAGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGGGGAA AGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGGGGGGAA GGGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGGGGGGAAGG GGGGAAGGGGAAAGGGGTGAGGGGAAGGGGGGAAGGGGGAAAGGGGTGAG GGGAGGATGGAGGGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGGGGAGGGGGAGGGGGGAGG GGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGGGAGGGG GAGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGA GGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGG AAGAGAGGGAGGGGGAGAGGGAGGGAAGGGAGGGGGAGGGAGGGGGAGGG AAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTGGAGGGGGAGGGG GAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGG AGTGGAGGGGGAGGGGGAGGGAGGGGAGGGGAGGGGGAGGGGGAGGGAAG GGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGGGAGGGGAG GGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0137 a0001c0001t0003g0137	1	272	0.0037	814	c.250 others(829): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCTTCCCTCCCCCTCC CCCTCCCCTCCCCTCCCTCCCCCTCCCCCTCCACTCCCATCCCTCCTCCC TCCCCCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCAC TCCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCTC CCCCTCCCTTCCCTCCCTCTCCCCCTCCCTCTCTTCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCC CCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCC CCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCC TCCCCTCCCCTCCCCTCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCCTCCCCTCCCCTCCCCCCTCCATCCTCCCCTCACCCCTTTCCCC CTTCCCCCCTTCCCCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCC TTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCTTCCCCCCTTCCCCC CACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCTTCCCCCC GCCCCTTTTCCCCCCTTCCCCGCCCTTTTCCCCCTCCCCCTGCCCCTCCC CTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCCCCTCC TTCCCCCTCCTTCCCCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
NOTCH1_chr9_136489433_136551048	136535833	A A	AGGGGGGA others(807): Show AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTG GGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGG GTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTG CAGGGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGG TGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATG GGTGCAGGGTGGGTC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	324	0.0031	814	c.140 others(831): Show c.140+8190_140+8191insGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGG GAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCC CCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCATTG CCCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATT GCCCCTGGGAGGGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCA TTGCCCCGGGAGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCAT TGCCCCTGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCA TTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACC CATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCA CTCATTGCCCCGGGAGGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NSRP1_chr17_30111816_30191475	30156248	G G	GCTGTTTA others(807): Show GCTGTTTATCAAGCACAGACCCTCATGGAAGTTCATTGAGCAAACAGATG AGGGCTGCCACCTCAACCTGGCTAGACTGCTGCTCTGATGTTACCTTCAG CACTAGGTTGGTGTTGCTTTTTTGCCTCAGAGGAGACAAAGGAGAGACAA GAACATTTCTGAAAAGCTCTCTTTCATCCTGCCCACCCCACCCCTGCCTC AAGTGGTGTGCCCTGTACTTTTCAACCCTGGGTTGCTACGCTACCCTACG TCCATTTACACAAGTGAGCTTCTGCCTCCCCAGGGGTTTTTACAATTTTA TGTTTACTTCTCAGATCCAACCTCCCTAACTTGTAGAACCTCTTCAGAGG GAGGGAGCCTGACTTAAGAGGAATTGGAAGCTGAGTATAACCAATTTTTT ATATATATTTGGCCTTTGAGTACATAAGACTTATTTCCACAAATTTACTA ATTATATTTAAACTTTTACTGGTTGTTTTGTATTTAGTCATCACATGTTG TCTTATTAGTGGGAGAGGAACACAAGAGAGTCCCTGGGCAATGGAAGTAA ACTGGTCTAGAAATGTGATAATTCAAAAAGTGGAGAATTCGGGTTTCAGT AAACAATTAAATTTTGTTATTGATACATACTATTTGTATATATTTATAGG ATACGTGATGTTTTTACATGCATAGAATGTGTAATGACCAAATCAAAGTA TTTAGGCTTTCTGTCATCACTAGCATTTATCATTTCTGTGTTGAGAACAT TTCAACTCCTCACTTGTAGCTATTTTGAAGTGTACAGTACATTGTTGTTA GCTATAGTCACCCTA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0170 a0001c0001t0002g0170	1	282	0.0036	814	c.115 others(833): Show c.115-16292_115-16291insGTTTATCAAGCACAGACCCTCATGGA AGTTCATTGAGCAAACAGATGAGGGCTGCCACCTCAACCTGGCTAGACTG CTGCTCTGATGTTACCTTCAGCACTAGGTTGGTGTTGCTTTTTTGCCTCA GAGGAGACAAAGGAGAGACAAGAACATTTCTGAAAAGCTCTCTTTCATCC TGCCCACCCCACCCCTGCCTCAAGTGGTGTGCCCTGTACTTTTCAACCCT GGGTTGCTACGCTACCCTACGTCCATTTACACAAGTGAGCTTCTGCCTCC CCAGGGGTTTTTACAATTTTATGTTTACTTCTCAGATCCAACCTCCCTAA CTTGTAGAACCTCTTCAGAGGGAGGGAGCCTGACTTAAGAGGAATTGGAA GCTGAGTATAACCAATTTTTTATATATATTTGGCCTTTGAGTACATAAGA CTTATTTCCACAAATTTACTAATTATATTTAAACTTTTACTGGTTGTTTT GTATTTAGTCATCACATGTTGTCTTATTAGTGGGAGAGGAACACAAGAGA GTCCCTGGGCAATGGAAGTAAACTGGTCTAGAAATGTGATAATTCAAAAA GTGGAGAATTCGGGTTTCAGTAAACAATTAAATTTTGTTATTGATACATA CTATTTGTATATATTTATAGGATACGTGATGTTTTTACATGCATAGAATG TGTAATGACCAAATCAAAGTATTTAGGCTTTCTGTCATCACTAGCATTTA TCATTTCTGTGTTGAGAACATTTCAACTCCTCACTTGTAGCTATTTTGAA GTGTACAGTACATTGTTGTTAGCTATAGTCACCCTACT	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NSRP1_chr17_30111816_30191475	30156248	G G	GCTGTTTA others(807): Show GCTGTTTATCAAGCACAGACCCTCATGGAAGTTCATTGAGCAAACAGATG AGGGCTGCCACCTCAACCTGGCTAGACTGCTGCTCTGATGTTACCTTCAG CACTAGGTTGGTGTTGCTTTTTTGCCTCAGAGGAGACAAAGGAGAGACAA GAACATTTCTGAAAAGCTCTCTTTCATCCTGCCCACCCCACCCCTGCCTC AAGTGGTGTGCCCTGTACTTTTCAACCCTGGGTTGCTACGCTACCCTACG TCCATTTACACAAGTGAGCTTCTGCCTCCCCAGGGGTTTTTACAATTTTA TGTTTACTTCTCAGATCCAACCTCCCTAACTTGTAGAACCTCTTCAGAGG GAGGGAGCCTGACTTAAGAGGAATTGGAAGCTGAGTATAACCAATTTTTT ATATATATTTGGCCTTTGAGTACATAAGATTTATTTCCACAAATTTACTA ATTATATTTAAACTTTTACTGGTTGTTTTGTATTTAGTCATCACATGTTA TCTTATTAGTGGGAGAGGAACACAAGAGAGTCCCTGGGCAATGGAAGTAA ACTGGTCTAGAAATGTGATAATTCAAAAAGTGGAGAATTTGGGTTTCAGT AAACAATTAAATTTTGTTATTGATACATACTATTTGTATATATTTATAGG ATACGTGATGTTTTTACATGCATAGAATGTGTAATGACCAAATCAAAGTA TTTAGGCTTTCTGTCATCACTAGCATTTATCATTTCTGTGTTGAGAACAT TTCAACTCCTCACTTGTAGCTATTTTGAAGTGTACAGTACATTGTTGTTA GCTATAGTCACCCTA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	282	0.0036	814	c.115 others(833): Show c.115-16292_115-16291insGTTTATCAAGCACAGACCCTCATGGA AGTTCATTGAGCAAACAGATGAGGGCTGCCACCTCAACCTGGCTAGACTG CTGCTCTGATGTTACCTTCAGCACTAGGTTGGTGTTGCTTTTTTGCCTCA GAGGAGACAAAGGAGAGACAAGAACATTTCTGAAAAGCTCTCTTTCATCC TGCCCACCCCACCCCTGCCTCAAGTGGTGTGCCCTGTACTTTTCAACCCT GGGTTGCTACGCTACCCTACGTCCATTTACACAAGTGAGCTTCTGCCTCC CCAGGGGTTTTTACAATTTTATGTTTACTTCTCAGATCCAACCTCCCTAA CTTGTAGAACCTCTTCAGAGGGAGGGAGCCTGACTTAAGAGGAATTGGAA GCTGAGTATAACCAATTTTTTATATATATTTGGCCTTTGAGTACATAAGA TTTATTTCCACAAATTTACTAATTATATTTAAACTTTTACTGGTTGTTTT GTATTTAGTCATCACATGTTATCTTATTAGTGGGAGAGGAACACAAGAGA GTCCCTGGGCAATGGAAGTAAACTGGTCTAGAAATGTGATAATTCAAAAA GTGGAGAATTTGGGTTTCAGTAAACAATTAAATTTTGTTATTGATACATA CTATTTGTATATATTTATAGGATACGTGATGTTTTTACATGCATAGAATG TGTAATGACCAAATCAAAGTATTTAGGCTTTCTGTCATCACTAGCATTTA TCATTTCTGTGTTGAGAACATTTCAACTCCTCACTTGTAGCTATTTTGAA GTGTACAGTACATTGTTGTTAGCTATAGTCACCCTACT	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NSRP1_chr17_30111816_30191475	30156248	G G	GCTGTTTA others(807): Show GCTGTTTATCAAGCACAGACCCTCATGGAAGTTCATTGAGCAAACAGATG AGGGCTGCCACCTCAACCTGGCTAGACTGCTGCTCTGATGTTACCTTCAG CACTAGGTTGGTGTTGCTTTTTTGCCTCAGAGGAGACAAAGGAGAGACAA GAACATTTCTGAAAAGCTCTCTTTCATCCTGCCCACCCCACCCCTGCCTC AAGTGGTGTGCCCTGTACTTTTCAACCCTGGGTTGCTACGCTACCCTACG TCCATTTACACAAGTGAGCTTCTGCCTCCCCAGGGGTTTTTACAATTTTA TGTTTACTTCTCAGATCCAACCTCCCTAACTTGTAGAACCTCTTCAGAGG GAGGGAGCCTGACTTAAGAGGAATTGGAAGCTGAGTATAACCAATTTTTT ATATATATTTGGCCTTTGAGTACATAAGATTTATTTCCACAAATTTACTA ATTATATTTAAACTTTTACTGGTTGTTTTGTATTTAGTCATCACATGTTG TCTTATTAGTGGGAGAGGAACACAAGAGAGTCCCTGGGCAATGGAAGTAA ACTGGTCTAGAAATGTGATAATTCAAAAAGTGGAGAATTCGGGTTTCAGT AAACAATTAAATTTTGTTATTGATACATACTATTTGTATATATTTATAGG ATACGTGATGTTTTTACATGCATAGAATGTGTAATGACCAAATCAAAGTA TTTAGGCTTTCTGTCATCACTAGCATTTATCATTTCTGTGTTGAGAACAT TTCAACTCCTCACTTGTAGCTATTTTGAAGTGTACAGTACATTGTTGTTA GCTATAGTCACCCTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(93): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG01993.hp1 HG02004.hp2 HG02074.hp1 HG02132.hp2 HG02148.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp2 HG02523.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02735.hp2 HG03017.hp1 HG03239.hp1 HG03490.hp1 HG03516.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18522.hp2 NA18940.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18954.hp1 NA18955.hp2 NA18961.hp1 NA18962.hp1 NA18963.hp2 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18978.hp1 NA18988.hp1 NA18988.hp2 NA18993.hp1 NA18995.hp2 NA18998.hp2 NA19001.hp2 NA19004.hp2 NA19006.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19066.hp2 NA19067.hp1 NA19070.hp2 NA19072.hp1 NA19075.hp2 NA19080.hp2 NA19083.hp2 NA20752.hp2 NA20905.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0008	a0001c0001 a0001c0011 a0006c0007 others(2): Show a0001c0001 a0001c0011 a0006c0007 a0007c0012 a0008c0013	a0001c0001t0002 a0001c0001t0006 a0001c0011t0002 others(3): Show a0001c0001t0002 a0001c0001t0006 a0001c0011t0002 a0006c0007t0002 a0007c0012t0002 a0008c0013t0002	a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0171 others(93): Show a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0006g0241 a0001c0001t0006g0242 a0001c0011t0002g0215 a0006c0007t0002g0173 a0006c0007t0002g0262 a0007c0012t0002g0258 a0008c0013t0002g0196	96	282	0.3404	814	c.115 others(833): Show c.115-16292_115-16291insGTTTATCAAGCACAGACCCTCATGGA AGTTCATTGAGCAAACAGATGAGGGCTGCCACCTCAACCTGGCTAGACTG CTGCTCTGATGTTACCTTCAGCACTAGGTTGGTGTTGCTTTTTTGCCTCA GAGGAGACAAAGGAGAGACAAGAACATTTCTGAAAAGCTCTCTTTCATCC TGCCCACCCCACCCCTGCCTCAAGTGGTGTGCCCTGTACTTTTCAACCCT GGGTTGCTACGCTACCCTACGTCCATTTACACAAGTGAGCTTCTGCCTCC CCAGGGGTTTTTACAATTTTATGTTTACTTCTCAGATCCAACCTCCCTAA CTTGTAGAACCTCTTCAGAGGGAGGGAGCCTGACTTAAGAGGAATTGGAA GCTGAGTATAACCAATTTTTTATATATATTTGGCCTTTGAGTACATAAGA TTTATTTCCACAAATTTACTAATTATATTTAAACTTTTACTGGTTGTTTT GTATTTAGTCATCACATGTTGTCTTATTAGTGGGAGAGGAACACAAGAGA GTCCCTGGGCAATGGAAGTAAACTGGTCTAGAAATGTGATAATTCAAAAA GTGGAGAATTCGGGTTTCAGTAAACAATTAAATTTTGTTATTGATACATA CTATTTGTATATATTTATAGGATACGTGATGTTTTTACATGCATAGAATG TGTAATGACCAAATCAAAGTATTTAGGCTTTCTGTCATCACTAGCATTTA TCATTTCTGTGTTGAGAACATTTCAACTCCTCACTTGTAGCTATTTTGAA GTGTACAGTACATTGTTGTTAGCTATAGTCACCCTACT	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NSRP1_chr17_30111816_30191475	30156248	G G	GCTGTTTA others(807): Show GCTGTTTATCAAGCACAGACCCTCATGGAAGTTCATTGAGCAAACAGATG AGGGCTGCCACCTCAACCTGGCTAGACTGCTGCTCTGATGTTACCTTCAG CACTAGGTTGGTGTTGCTTTTTTGCCTCAGAGGAGACAAAGGAGAGACAA GAACATTTCTGAAAAGCTCTCTTTCATCCTGCCCACCCCACCCCTGCCTC AAGTGGTGTGCCCTGTACTTTTCAACCCTGGGTTGCTACGCTACCCTACG TCCATTTACACAAGTGAGCTTCTGCCTCCCCAGGGGTTTTTACAATTTTA TGTTTACTTCTCAGATCCAACCTCCCTAACTTGTAGAACCTCTTCAGAGG GAGGGAGCCTGACTTAAGAGGAATTGGAAGCTGAGTATAACCAATTTTTT ATATATATTTGGCCTTTGAGTACATAAGATTTATTTCCACAAATTTACTA ATTATATTTAAACTTTTACTGGTTGTTTTGTATTTAGTCATCACATGTTG TCTTATTAGTGGGAGAGGAACACAAGAGAGTCCCTGGGCAATGGAAGTAA ACTGGTCTAGAAATGTGATAATTCAAAAAGTGGAGAATTTGGGTTTCAGT AAACAATTAAATTTTGTTATTGATACATACTATTTGTATATATTTATAGG ATACGTGATGTTTTTACATGCATAGAATGTGTAATGACCAAATCAAAGTA TTTAGGCTTTCTGTCATCACTAGCATTTATCATTTCTGTGTTGAGAACAT TTCAACTCCTCACTTGTAGCTATTTTGAAGTGTACAGTACATTGTTGTTA GCTATAGTCACCCTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01891.hp1 others(24): Show HG01243.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG02055.hp2 HG02109.hp2 HG02258.hp1 HG02451.hp1 HG02559.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG06807.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0009 a0001c0001 a0001c0008 a0001c0009	a0001c0001t0001 a0001c0001t0005 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0008t0001 a0001c0009t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 others(24): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0150 a0001c0008t0001g0156 a0001c0009t0001g0149	27	282	0.0957	814	c.115 others(833): Show c.115-16292_115-16291insGTTTATCAAGCACAGACCCTCATGGA AGTTCATTGAGCAAACAGATGAGGGCTGCCACCTCAACCTGGCTAGACTG CTGCTCTGATGTTACCTTCAGCACTAGGTTGGTGTTGCTTTTTTGCCTCA GAGGAGACAAAGGAGAGACAAGAACATTTCTGAAAAGCTCTCTTTCATCC TGCCCACCCCACCCCTGCCTCAAGTGGTGTGCCCTGTACTTTTCAACCCT GGGTTGCTACGCTACCCTACGTCCATTTACACAAGTGAGCTTCTGCCTCC CCAGGGGTTTTTACAATTTTATGTTTACTTCTCAGATCCAACCTCCCTAA CTTGTAGAACCTCTTCAGAGGGAGGGAGCCTGACTTAAGAGGAATTGGAA GCTGAGTATAACCAATTTTTTATATATATTTGGCCTTTGAGTACATAAGA TTTATTTCCACAAATTTACTAATTATATTTAAACTTTTACTGGTTGTTTT GTATTTAGTCATCACATGTTGTCTTATTAGTGGGAGAGGAACACAAGAGA GTCCCTGGGCAATGGAAGTAAACTGGTCTAGAAATGTGATAATTCAAAAA GTGGAGAATTTGGGTTTCAGTAAACAATTAAATTTTGTTATTGATACATA CTATTTGTATATATTTATAGGATACGTGATGTTTTTACATGCATAGAATG TGTAATGACCAAATCAAAGTATTTAGGCTTTCTGTCATCACTAGCATTTA TCATTTCTGTGTTGAGAACATTTCAACTCCTCACTTGTAGCTATTTTGAA GTGTACAGTACATTGTTGTTAGCTATAGTCACCCTACT	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NSRP1_chr17_30111816_30191475	30156248	G G	GCTGTTTA others(807): Show GCTGTTTATCAAGCACAGACCCTCATGGAAGTTCATTGAGCAAACAGATG AGGGCTGCCACCTCAACCTGGCTAGACTGCTGCTCTGATGTTACCTTCAG CACTAGGTTGGTGTTGCTTTTTTGCCTCAGAGGAGACAAAGGAGAGACAA GAACATTTCTGAAAAGCTCTCTTTCATCCTGCCCACCCCACCCCTGCCTC AAGTGGTGTGCCCTGTACTTTTCAACCCTGGGTTGCTACGCTACCCTACG TCCATTTACACAAGTGAGCTTCTGCCTCCCCAGGGGTTTTTACAATTTTA TGTTTACTTCTCAGATCCAACCTCCCTAACTTGTAGAACCTCTTCAGAGG GAGGGAGCCTGACTTAAGAGGAATTGGAAGCTGAGTATAACCAATTTTTT ATATATATTTGGCCTTTGAGTACATAAGATTTATTTCCACAAATTTACTA ATTATATTTAAACTTTTACTGGTTGTTTTGTATTTAGTCATCACATGTTG TCTTATTAGTGGGAGAGGAACACAAGAGAGTCCCTGGGCAATGGAAGTAA ACTGGTCTAGAAATGTGATAGTTCAAAAAGTGGAGAATTCGGGTTTCAGT AAACAATTAAATTTTGTTATTGATACATACTATTTGTATATATTTATAGG ATACGTGATGTTTTTACATGCATAGAATGTGTAATGACCAAATCAAAGTA TTTAGGCTTTCTGTCATCACTAGCATTTATCATTTCTGTGTTGAGAACAT TTCAACTCCTCACTTGTAGCTATTTTGAAGTGTACAGTACATTGTTGTTA GCTATAGTCACCCTA	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA18906.hp2 NA20129.hp2 HG02895.hp1 NA18906.hp2 NA20129.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0266 a0003c0005t0001g0267 a0003c0005t0001g0268 a0003c0005t0001g0266 a0003c0005t0001g0267 a0003c0005t0001g0268	3	282	0.0106	814	c.115 others(833): Show c.115-16292_115-16291insGTTTATCAAGCACAGACCCTCATGGA AGTTCATTGAGCAAACAGATGAGGGCTGCCACCTCAACCTGGCTAGACTG CTGCTCTGATGTTACCTTCAGCACTAGGTTGGTGTTGCTTTTTTGCCTCA GAGGAGACAAAGGAGAGACAAGAACATTTCTGAAAAGCTCTCTTTCATCC TGCCCACCCCACCCCTGCCTCAAGTGGTGTGCCCTGTACTTTTCAACCCT GGGTTGCTACGCTACCCTACGTCCATTTACACAAGTGAGCTTCTGCCTCC CCAGGGGTTTTTACAATTTTATGTTTACTTCTCAGATCCAACCTCCCTAA CTTGTAGAACCTCTTCAGAGGGAGGGAGCCTGACTTAAGAGGAATTGGAA GCTGAGTATAACCAATTTTTTATATATATTTGGCCTTTGAGTACATAAGA TTTATTTCCACAAATTTACTAATTATATTTAAACTTTTACTGGTTGTTTT GTATTTAGTCATCACATGTTGTCTTATTAGTGGGAGAGGAACACAAGAGA GTCCCTGGGCAATGGAAGTAAACTGGTCTAGAAATGTGATAGTTCAAAAA GTGGAGAATTCGGGTTTCAGTAAACAATTAAATTTTGTTATTGATACATA CTATTTGTATATATTTATAGGATACGTGATGTTTTTACATGCATAGAATG TGTAATGACCAAATCAAAGTATTTAGGCTTTCTGTCATCACTAGCATTTA TCATTTCTGTGTTGAGAACATTTCAACTCCTCACTTGTAGCTATTTTGAA GTGTACAGTACATTGTTGTTAGCTATAGTCACCCTACT	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NSRP1_chr17_30111816_30191475	30156248	G G	GCTGTTTA others(807): Show GCTGTTTATCAAGCACAGACCCTCATGGAAGTTCATTGAGCAAACAGATG AGGGCTGCCACCTCAACCTGGCTAGACTGCTGCTCTGATGTTACCTTCAG CACTAGGTTGGTGTTGCTTTTTTGCCTCAGAGGAGACAAAGGAGAGACAA GAACATTTCTGAAAAGCTCTCTTTCATCCTGCCCACCCCACCCCTGCCTC AAGTGGTGTGCCCTGTACTTTTCAACCCTGGGTTGCTACGCTACCCTACG TCCATTTACACAAGTGAGCTTCTGCCTCCCCAGGGGTTTTTACAATTTTA TGTTTACTTCTCAGATCCAACCTCCCTAACTTGTAGAACCTCTTCAGAGG GAGGGAGCCTGACTTAAGAGGAATTGGAAGCTGAGTATAACCAATTTTTT ATATATATTTGGCCTTTGAGTACATAAGATTTATTTCCACAAATTTACTA ATTATATTTAAACTTTTACTGGTTGTTTTGTATTTAGTCATCACATGTTG TCTTATTAGTGGGAGAGGAACACAAGAGAGTCCCTGGGCAATGGAATTAA ACTGGTCTAGAAATGTGATAATTCAAAAAGTGGAGAATTCGGGTTTCAGT AAACAATTAAATTTTGTTATTGATACATACTATTTGTATATATTTATAGG ATACGTGATGTTTTTACATGCATAGAATGTGTAATGACCAAATCAAAGTA TTTAGGCTTTCTGTCATCACTAGCATTTATCATTTCTGTGTTGAGAACAT TTCAACTCCTCACTTGTAGCTATTTTGAAGTGTACAGTACATTGTTGTTA GCTATAGTCACCCTA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0265 a0001c0001t0002g0265	1	282	0.0036	814	c.115 others(833): Show c.115-16292_115-16291insGTTTATCAAGCACAGACCCTCATGGA AGTTCATTGAGCAAACAGATGAGGGCTGCCACCTCAACCTGGCTAGACTG CTGCTCTGATGTTACCTTCAGCACTAGGTTGGTGTTGCTTTTTTGCCTCA GAGGAGACAAAGGAGAGACAAGAACATTTCTGAAAAGCTCTCTTTCATCC TGCCCACCCCACCCCTGCCTCAAGTGGTGTGCCCTGTACTTTTCAACCCT GGGTTGCTACGCTACCCTACGTCCATTTACACAAGTGAGCTTCTGCCTCC CCAGGGGTTTTTACAATTTTATGTTTACTTCTCAGATCCAACCTCCCTAA CTTGTAGAACCTCTTCAGAGGGAGGGAGCCTGACTTAAGAGGAATTGGAA GCTGAGTATAACCAATTTTTTATATATATTTGGCCTTTGAGTACATAAGA TTTATTTCCACAAATTTACTAATTATATTTAAACTTTTACTGGTTGTTTT GTATTTAGTCATCACATGTTGTCTTATTAGTGGGAGAGGAACACAAGAGA GTCCCTGGGCAATGGAATTAAACTGGTCTAGAAATGTGATAATTCAAAAA GTGGAGAATTCGGGTTTCAGTAAACAATTAAATTTTGTTATTGATACATA CTATTTGTATATATTTATAGGATACGTGATGTTTTTACATGCATAGAATG TGTAATGACCAAATCAAAGTATTTAGGCTTTCTGTCATCACTAGCATTTA TCATTTCTGTGTTGAGAACATTTCAACTCCTCACTTGTAGCTATTTTGAA GTGTACAGTACATTGTTGTTAGCTATAGTCACCCTACT	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NSRP1_chr17_30111816_30191475	30156248	G G	GCTGTTTA others(807): Show GCTGTTTATCAAGCACAGACCCTCATGGAAGTTCATTGAGCAAACAGATG AGGGCTGCCACCTCAACCTGGCTAGACTGCTGCTCTGATGTTACCTTCAG CACTAGGTTGGTGTTGCTTTTTTGCCTCAGAGGAGAGAAAGGAGAGACAA GAACATTTCTGAAAAGCTCTCTTTCATCCTGCCCACCCCACCCCTGCCTC AAGTGGTGTGCCCTGTACTTTTCAACCCTGGGTTGCTACGCTACCCTACG TCCATTTACACAAGTGAGCTTCTGCCTCCCCAGGGGTTTTTACAATTTTA TGTTTACTTCTCAGATCCAACCTCCCTAACTTGTAGAACCTCTTCAGAGG GAGGGAGCCTGACTTAAGAGGAATTGGAAGCTGAGTATAACCAATTTTTT ATATATATTTGGCCTTTGAGTACATAAGATTTATTTCCACAAATTTACTA ATTATATTTAAACTTTTACTGGTTGTTTTGTATTTAGTCATCACATGTTG TCTTATTAGTGGGAGAGGAACACAAGAGAGTCCCTGGGCAATGGAAGTAA ACTGGTCTAGAAATGTGATAATTCAAAAAGTGGAGAATTCGGGTTTCAGT AAACAATTAAATTTTGTTATTGATACATACTATTTGTATATATTTATAAG ATACGTGATGTTTTTACATGCATAGAATGTGTAATGACCAAATCAAAGTA TTTAGGCTTTCTGTCATCACTAGCATTTATCATTTCTGTGTTGAGAACAT TTCAACTCCTCACTTGTAGCTATTTTGAAGTGTACAGTACATTGTTGTTA GCTATAGTCACCCTA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01884.hp2 HG02486.hp2 others(4): Show HG01433.hp1 HG01884.hp2 HG02486.hp2 HG02615.hp1 HG02922.hp1 HG03098.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0276 others(4): Show a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0276 a0001c0001t0004g0272 a0001c0001t0004g0273 a0001c0001t0004g0274 a0001c0001t0004g0275	7	282	0.0248	814	c.115 others(833): Show c.115-16292_115-16291insGTTTATCAAGCACAGACCCTCATGGA AGTTCATTGAGCAAACAGATGAGGGCTGCCACCTCAACCTGGCTAGACTG CTGCTCTGATGTTACCTTCAGCACTAGGTTGGTGTTGCTTTTTTGCCTCA GAGGAGAGAAAGGAGAGACAAGAACATTTCTGAAAAGCTCTCTTTCATCC TGCCCACCCCACCCCTGCCTCAAGTGGTGTGCCCTGTACTTTTCAACCCT GGGTTGCTACGCTACCCTACGTCCATTTACACAAGTGAGCTTCTGCCTCC CCAGGGGTTTTTACAATTTTATGTTTACTTCTCAGATCCAACCTCCCTAA CTTGTAGAACCTCTTCAGAGGGAGGGAGCCTGACTTAAGAGGAATTGGAA GCTGAGTATAACCAATTTTTTATATATATTTGGCCTTTGAGTACATAAGA TTTATTTCCACAAATTTACTAATTATATTTAAACTTTTACTGGTTGTTTT GTATTTAGTCATCACATGTTGTCTTATTAGTGGGAGAGGAACACAAGAGA GTCCCTGGGCAATGGAAGTAAACTGGTCTAGAAATGTGATAATTCAAAAA GTGGAGAATTCGGGTTTCAGTAAACAATTAAATTTTGTTATTGATACATA CTATTTGTATATATTTATAAGATACGTGATGTTTTTACATGCATAGAATG TGTAATGACCAAATCAAAGTATTTAGGCTTTCTGTCATCACTAGCATTTA TCATTTCTGTGTTGAGAACATTTCAACTCCTCACTTGTAGCTATTTTGAA GTGTACAGTACATTGTTGTTAGCTATAGTCACCCTACT	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
NSRP1_chr17_30111816_30191475	30156248	G G	GCTGTTTA others(807): Show GCTGTTTATCAATCACAGACCCTCATGGAAGTTCATTGAGCAAACAGATG AGGGCTGCCACCTCAACCTGGCTAGACTGCTGCTCTGATGTTACCTTCAG CACTAGGTTGGTGTTGCTTTTTTGCCTCAGAGGAGACAAAGGAGAGACAA GAACATTTCTGAAAAGCTCTCTTTCATCCTGCCCACCCCACCCCTGCCTC AAGTGGTGTGCCCTGTACTTTTCAACCCTGGGTTGCTACGCTACCCTACG TCCATTTACACAAGTGAGCTTCTGCCTCCCCAGGGGTTTTTACAATTTTA TGTTTACTTCTCAGATCCAACCTCCCTAACTTGTAGAACCTCTTCAGAGG GAGGGAGCCTGACTTAAGAGGAATTGGAAGCTGAGTATAACCAATTTTTT ATATATATTTGGCCTTTGAGTACATAAGATTTATTTCCACAAATTTACTA ATTATATTTAAACTTTTACTGGTTGTTTTGTATTTAGTCATCACATGTTG TCTTATTAGTGGGAGAGGAACACAAGAGAGTCCCTGGGCAATGGAAGTAA ACTGGTCTAGAAATGTGATAATTCAAAAAGTGGAGAATTCGGGTTTCAGT AAACAATTAAATTTTGTTATTGATACATACTATTTGTATATATTTATAGG ATACGTGATGTTTTTACATGCATAGAATGTGTAATGACCAAATCAAAGTA TTTAGGCTTTCTGTCATCACTAGCATTTATCATTTCTGTGTTGAGAACAT TTCAACTCCTCACTTGTAGCTATTTTGAAGTGTACAGTACATTGTTGTTA GCTATAGTCACCCTA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03486.hp1 NA18906.hp1 others(1): Show HG03139.hp2 HG03486.hp1 NA18906.hp1 NA19043.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0010 a0001c0001 a0010c0010	a0001c0001t0001 a0010c0010t0001 a0001c0001t0001 a0010c0010t0001	a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 others(1): Show a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0010c0010t0001g0141	4	282	0.0142	814	c.115 others(833): Show c.115-16292_115-16291insGTTTATCAATCACAGACCCTCATGGA AGTTCATTGAGCAAACAGATGAGGGCTGCCACCTCAACCTGGCTAGACTG CTGCTCTGATGTTACCTTCAGCACTAGGTTGGTGTTGCTTTTTTGCCTCA GAGGAGACAAAGGAGAGACAAGAACATTTCTGAAAAGCTCTCTTTCATCC TGCCCACCCCACCCCTGCCTCAAGTGGTGTGCCCTGTACTTTTCAACCCT GGGTTGCTACGCTACCCTACGTCCATTTACACAAGTGAGCTTCTGCCTCC CCAGGGGTTTTTACAATTTTATGTTTACTTCTCAGATCCAACCTCCCTAA CTTGTAGAACCTCTTCAGAGGGAGGGAGCCTGACTTAAGAGGAATTGGAA GCTGAGTATAACCAATTTTTTATATATATTTGGCCTTTGAGTACATAAGA TTTATTTCCACAAATTTACTAATTATATTTAAACTTTTACTGGTTGTTTT GTATTTAGTCATCACATGTTGTCTTATTAGTGGGAGAGGAACACAAGAGA GTCCCTGGGCAATGGAAGTAAACTGGTCTAGAAATGTGATAATTCAAAAA GTGGAGAATTCGGGTTTCAGTAAACAATTAAATTTTGTTATTGATACATA CTATTTGTATATATTTATAGGATACGTGATGTTTTTACATGCATAGAATG TGTAATGACCAAATCAAAGTATTTAGGCTTTCTGTCATCACTAGCATTTA TCATTTCTGTGTTGAGAACATTTCAACTCCTCACTTGTAGCTATTTTGAA GTGTACAGTACATTGTTGTTAGCTATAGTCACCCTACT	NSRP1	ENSG00000126653.18	transcript	ENST00000247026.10	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PKP3_chr11_389209_409908	398673	A A	ACCCCCGC others(807): Show ACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTC ACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACA CCTGCGTCACCTCCGTACCCCCGCACACACCTGCATCACCTCCCTACCCC CGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCG TCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACA CACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACC CCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACC TCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCT CCGTCACCTCCGTAC	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0127 a0001c0012t0001g0127	1	216	0.0046	814	c.106 others(831): Show c.1069-275_1069-274insCCGTCACCTCCGTACCCCCGCACACACC TCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCG CACACACCTGCATCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCG TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCT CCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTG CGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCA CACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTA CCCCCGCACACACCTGCGTCACCTCCCTACCCCCCGCACACACCTGCGTC ACCTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACA CCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCC CGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCC GTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCCGCA CACACCTGCGTCACCTCCGTACCCCCGCACACACCT	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POLG_chr15_89311320_89339824	89325131	A A	AGTGAGTG others(807): Show AGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGTGAGTG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGTGAGAG AGTGAGTGAGTGAGTGAGTGAGTGTGAGTGAGAGAGTGAGTGAGAGAGTG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGAGAGTGAGTG AGAGAGTGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAG TGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAG AGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAG TGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAG AGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAG TGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTG AGTGAGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGTGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGTGAG AGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGAGAGTGAGTGAGTG AGAGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGTGAGTGAGTGAG AGAGTGAGTGAGTGAGTGAGTGAGAGAGTGAGTGAGAGAGTGAGTGAGAG AGTGAGTGAGAGAGT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0195 a0002c0002t0001g0195	1	398	0.0025	814	c.194 others(831): Show c.1949+318_1949+319insACTCTCTCACTCACTCTCTCACTCACTC TCTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCACTCAC TCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCACTC TCTCACTCACTCACTCTCTCACTCACTCTCTCACTCTCTCACTCACTCAC TCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTC TCTCACTCACTCACTCACTCACTCTCTCACTCTCACTCACTCACTCTCTC ACTCACTCACTCACTCTCTCACTCACTCACTCTCTCACTCACTCACTCAC TCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCACTCACTC TCTCACTCACTCACTCACTCTCTCACTCACTCTCTCACTCACTCTCTCAC TCACTCTCTCACTCACTCTCTCACTCACTCACTCACTCTCTCACTCACTC ACTCTCTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTCAC TCACTCTCTCACTCACTCACTCACTCACTCACTCTCTCACTCACTCTCTC ACTCTCTCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCAC TCTCTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCTCTCACTC ACTCTCTCACTCACACTCACTCACTCACTCACTCACTCTCTCACTCTCAC TCACTCACTCACTCACTCTCTCACTCACTCACTCACTCACTCACTCTCAC TCACTCACTCTCTCACTCACTCACTCACTCACTCAC	POLG	ENSG00000140521.18	transcript	ENST00000268124.11	protein_coding	10/22			chr15	TogoVar
PPP1R14C_chr6_150138044_150255392	150167969	T T	TCTCTCCT others(807): Show TCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC CTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTT CTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTC TCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCCCCTC TTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCC CTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCT CCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTTC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp2 NA18906.hp1 HG02559.hp1 HG02965.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0235 a0001c0001t0007g0236 a0001c0001t0007g0237 a0001c0001t0007g0235 a0001c0001t0007g0236 a0001c0001t0007g0237	3	312	0.0096	814	c.306 others(833): Show c.306+24490_306+24491insCTTTCTCCCCTTCTCTCCTCCCCCTT TCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTC TCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTC TCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCC CTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTC CCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCT TCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTC CTCCCCTCTTTCTCTCCTTCTTCTTCCCTCTTTCTTCCCTTCTCTCCTCC CCTCTTTCTCTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCC TCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTC CCCTTCTCTCCTCCCCTTCCTCTCCTTCTCTCCTCCCC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PRKCZ_chr1_2045411_2190395	2106643	G G	GGTGGGCG others(807): Show GGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAA GCCCCTCCGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCGAGGTAACT CTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCC AGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACGTGTGTC ACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCA TGCGTGTCACCAGTCCAGGTAACTCTCAGCAAGCCCCTCCAGTGGGCGAG GACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCTG GTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAG CCCCTCCGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTC TCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGTCCA GGTAACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCACACGTGTCA CCAGGCCAGGTGACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCA CACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAG GACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGG TGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGC CCCTCCGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCGAGGTAACTCT CAGCAAGCCCCTCCA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0234 a0001c0002t0001g0234	1	286	0.0035	814	c.335 others(833): Show c.335-28544_335-28543insCGTGTGTCACCAGGCGAGGTAACTCT CAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAG GTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACGTGTGTCAC CAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATG CGTGTCACCAGTCCAGGTAACTCTCAGCAAGCCCCTCCAGTGGGCGAGGA CCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCTGGT GGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCC CCTCCGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTC AGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGTCCAGG TAACTCTCAGCAAGCCCCTCCAGTGGGCGAGGACCTCCACACGTGTCACC AGGCCAGGTGACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACA CGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGA CCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTG GGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCC CTCCGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCGAGGTAACTCTCA GCAAGCCCCTCCAGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGT AACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCA	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(807): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACATTATACATT ATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATATGTA ATATATATTATACATTATTATATAAGTATATGTAATATATATTATACATT ATTATATAAGCATATAATATATAATACATAATACATTATATATAAGCATA TAACAATACATAATA	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA18989.hp1 NA19003.hp1 HG02056.hp2 NA18989.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0070 a0001c0001t0002 a0001c0001t0008 a0001c0001t0070	a0001c0001t0002g0156 a0001c0001t0008g0155 a0001c0001t0070g0143 a0001c0001t0002g0156 a0001c0001t0008g0155 a0001c0001t0070g0143	3	220	0.0136	814	c.24+ others(831): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTATAC ATTATTATATAAGTATATGTAATATATATTATACATTATTATATAAGTAT ATGTAATATATATTATACATTATTATATAAGCATATAATATATAATACAT AATACATTATATATAAGCATATAACAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RAB3C_chr5_58578075_58864394	58597333	T T	TATGTAAT others(807): Show TATGTAATACACAATATATATTATATAATATGTAATACACAATATATATT ATATAATATGTAATACACAATATATATTATATAATATGTAATACACAATA TATATTATATAATATGTAATACACAATATATATTATATAATATGTAATAC ACAATATATATTATATAATATGTAATACACAATATATATTATATAATATG TAATACACAATATATATTATATAATATGTAATACACAACATATATTATAT AATATGTAATACACAACATATATTATATAATATGTAATACACAACATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACACAATATATTATATAATAATATGTAATACATTATACATT ATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATATGTA ATACATTATACATTATTATATAAGTATATGTAATATATATTATACATTAT TATATAAGTATATGTAATATATAGTATACATTATTATATAAGCATATAAT ATATAATACATAATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0127 a0001c0001t0006g0127	1	220	0.0046	814	c.24+ others(831): Show c.24+14101_24+14102insATGTAATACACAATATATATTATATAAT ATGTAATACACAATATATATTATATAATATGTAATACACAATATATATTA TATAATATGTAATACACAATATATATTATATAATATGTAATACACAATAT ATATTATATAATATGTAATACACAATATATATTATATAATATGTAATACA CAATATATATTATATAATATGTAATACACAATATATATTATATAATATGT AATACACAACATATATTATATAATATGTAATACACAACATATATTATATA ATATGTAATACACAACATATATTATATAATAATATGTAATACACAATATA TTATATAATAATATGTAATACACAATATATTATATAATAATATGTAATAC ACAATATATTATATAATAATATGTAATACACAATATATTATATAATAATA TGTAATACACAATATATTATATAATAATATGTAATACACAATATATTATA TAATAATATGTAATACACAATATATTATATAATAATATGTAATACACAAT ATATTATATAATAATATGTAATACACAATATATTATATAATAATATGTAA TACACAATATATTATATAATAATATGTAATACACAATATATTATATAATA ATATGTAATACATTATACATTATTATATAAGTATATGTAATACATTATAC ATTATTATATAAGTATATGTAATACATTATACATTATTATATAAGTATAT GTAATATATATTATACATTATTATATAAGTATATGTAATATATAGTATAC ATTATTATATAAGCATATAATATATAATACATAATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4			chr5	TogoVar
RBFOX3_chr17_79084345_79616051	79554286	T T	TCCTCTCC others(807): Show TCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCT CACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCAC CCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCC CTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCA CTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCC CTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCT CTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACT CACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCC GACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCTTCACTCACA GTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCTCACCTGGC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG02135.hp2 others(1): Show HG00423.hp2 HG00558.hp2 HG02135.hp2 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0043 a0001c0001t0003g0072 a0001c0002t0001g0044 others(1): Show a0001c0001t0003g0043 a0001c0001t0003g0072 a0001c0002t0001g0044 a0001c0002t0001g0068	4	154	0.0260	814	c.-32 others(835): Show c.-320+56539_-320+56540insGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGG GCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGG TGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGA AGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGC CAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTG ACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAGG ATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCA GGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTCGGGGGTGAC TGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGAT GGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGG TGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTG TGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGG AGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTG AGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTG AGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAG AGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGG	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(807): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCA CAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACA GTCACCCCCGACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCAT CCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCTTCACTCACAGT CACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTG GCCCTCTCCATCCTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCC TCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCA CCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGC CCTCTCCATCTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTC ACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACC CCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCC TCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCAC TCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0042	1	154	0.0065	814	c.-32 others(835): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAAGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGT GAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGA GAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTCG GGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGA GGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGT GAAGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGG GCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGG TGACTGTGAGTGAAGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGA AGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGTCGGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTG ACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGG ATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCA GGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RBFOX3_chr17_79084345_79616051	79554464	C C	CACCTGGC others(807): Show CACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCT CCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCA CAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCA CCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCC ATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCACTCACA GTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACCCCCGACC TGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCAT CTTCACTCACAGTCACCCCCGACCTGGCCCTCTCCATCCTCACTCACAGT CACCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTG GCCCTCTCCATCTTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCT TCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCA CCCCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGC CCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTC ACTCACAGTCACCCCTCACCTGGCCCTCTCCATCTTCACTCACAGTCACC CCTCACCTGGCCCTCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCC TCTCCATCCTCACTCACAGTCACCCCTCACCTGGCCCTCTCCATCCTCAC TCACAGTCACCCCCG	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0136 a0001c0001t0028g0136	1	154	0.0065	814	c.-32 others(835): Show c.-320+56361_-320+56362insCGGGGGTGACTGTGAGTGAGGATG GAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT GAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGT GAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAAGATGGA GAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGA GGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGA GTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAAGATGGAGA GGGCCAGGTGAGGGGTGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGG GGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGT GAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAGATGGAGAGG GCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGG TGACTGTGAGTGAAGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGA GGATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGC CAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGTGAGGGGTG ACTGTGAGTGAGGATGGAGAGGGCCAGGTCGGGGGTGACTGTGAGTGAAG ATGGAGAGGGCCAGGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCA GGTGAGGGGTGACTGTGAGTGAGGATGGAGAGGGCCAGGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	1/14			chr17	TogoVar
RCBTB2_chr13_48483963_48538080	48527326	T T	TATATATA others(807): Show TATATATATGATATATATATATGATATATATATATGATATATATATATGA TATATATATATGATATATATATATGATATATATATATGATATATATATAT GATATATATATATGATATATATATATGATATATATATATGATATATATAT GATATATATATATGATATATATATGATATATATATATGATATATATATAT GATATATATATATGATATATATATATGATATATATATATGATATATATAT ATGATATATATATATGATATATATATATGATATATATATATGATATATAT ATATGATATATATATATGATATATATATATGATATATATATATGATATAT ATATATGATATATATATATGATATATATATATGATATATATATATGATAT ATATATGATATATATATGATATATATATGATATATATATGATATATATAT GATATATATATGATATATATATATGATATATATATATGATATATATATAT GATATATATATATGATATATATATATGATATATATATATGATATATATAT ATGATATATATATGATATATATATGATATATATATGATATATATGATATA TATATGATATATATATGATATATATATGATATATATATATGATATATATA TGATATATATATATGATATATATATATGATATATATATATGATATATATA TGATATATATATATGATATATATATATGATATATATATATGATATATATA TATGATATATATATGATATATATATGATATATATATATGATATATATATA TGATATATATATATG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0059 a0001c0005t0002g0059	1	320	0.0031	814	c.-21 others(833): Show c.-218-2570_-218-2569insCATATATATATATCATATATATATAT CATATATATATATCATATATATATCATATATATATCATATATATATATCA TATATATATATCATATATATATATCATATATATATATCATATATATATCA TATATATATATCATATATATATATCATATATATATATCATATATATATCA TATATATATATCATATATATATCATATATATATCATATATATATCATATA TATCATATATATATCATATATATATCATATATATATCATATATATATATC ATATATATATATCATATATATATATCATATATATATATCATATATATATA TCATATATATATATCATATATATATATCATATATATATCATATATATATC ATATATATATCATATATATATCATATATATATCATATATATATCATATAT ATATATCATATATATATATCATATATATATATCATATATATATATCATAT ATATATATCATATATATATATCATATATATATATCATATATATATATCAT ATATATATATCATATATATATATCATATATATATATCATATATATATATC ATATATATATATCATATATATATATCATATATATATATCATATATATATA TCATATATATATATCATATATATATCATATATATATATCATATATATATC ATATATATATATCATATATATATATCATATATATATATCATATATATATA TCATATATATATATCATATATATATATCATATATATATATCATATATATA TATCATATATATATATCATATATATATATCATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
ROBO2_chr3_77035099_77654964	77323000	T T	TTATATTA others(807): Show TTATATTATATTATGGATAATATAATATATTATATTATGGATAATCTAAT ATATTATATTATATTATGGATAATCTAATATATTATATTATATTATGGAT AATCTAATATATTATATTATATTATGGATAATATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATATTATATT ATGGATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAAT ATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATAT ATTATATTATGGATAATATAGTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATAATATATTATATTATGGATAATATAATATATTATATAATA TATTATATTATGGATAATATAATATATTATATAATATATTATATTATGGA TAATATAATATATTATATAATATATTATATTATGGATAATATAATATATT ATATTATATTATGGATAATATAATATATTATATTATATTATGGATAATAT AATATATTATATTATATTATGGATAATATAATATATTATATTATATTATG GATAATATAATATAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0009 a0001c0001t0020g0009	1	160	0.0063	814	c.389 others(835): Show c.389-154377_389-154376insGGATAATCTAATATATTATATTAT ATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATAT TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATAATATATTATATTATGG ATAATATAGTATATTATGGATAATATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAA TATATTATATTATGGATAATATAATATATTATATAATATATTATATTATG GATAATATAATATATTATATAATATATTATATTATGGATAATATAATATA TTATATAATATATTATATTATGGATAATATAATATATTATATTATATTAT GGATAATATAATATATTATATTATATTATGGATAATATAATATATTATAT TATATTATGGATAATATAATATATTATATTATATTATGGATAATATAATA TAATATATTATATTATGGATAATATAATATATTATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPA3_chr7_7631518_7723607	7679098	C C	CATATATT others(807): Show CATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTA TAAACATATATTTATATATTTAGTTTATAAACATATATTTATATATTTAG TTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATAT TTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTAT ATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATAT TTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACAT ATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAA ACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTT ATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTTA GTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTTA GTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTTA GTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATATA TTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTTA TATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATA AATATATATTTATATATTTAATTTATAGATAAATATATATTTATATATTT AGTTTATAGATAAAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	308	0.0033	814	c.-75 others(833): Show c.-758+6731_-758+6732insATTTATCTATAAACTAAATATATAAA TATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAAT TAAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATAT TTATAAACTAAATATATAAATATGTATTTATAAACTAAATATATAAATAT GTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATATGTAAATATTTATAAACTAAATATGTAA ATATGTATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATAAATATATATTTATAAACTAAATATGTAA ATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAT ATAAATATATATTTATAAACTAAATATATAAATATATGTTTATAAACTAA ATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAA CTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTA TAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATG TTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATA TATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATA AATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATA TATAAATATATGTTTATAAACTAAATATATAAATATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SAMD11_chr1_918923_949574	934489	A A	AGGCGGCT others(807): Show AGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGG CGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCC GTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGG GGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTG GGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTA CAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGC GTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGC GGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGG GGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTG GGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTA CAGGTGGGCGGGGGG	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0184 a0001c0001t0003g0184	1	434	0.0023	814	c.843 others(831): Show c.843-1248_843-1247insCCGTTACAGGTGGGCGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCG GGGGGGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGG CTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCTGCGTTACAGGTGGG CGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACA GGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCTGCTC CGTTACAGGTGGGCGGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGGAG GCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCG GGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGG TGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGT TACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGGCTG CTCCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGG GGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCGGCT	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results (Total: 7053 hits)