Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Select column to sort.

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NEU4_chr2_241804193_241822413	241806119	T T	TCCCCCCT others(812): Show TCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAG GCCACCCTCCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTC CGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCTGCAGG CCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCT CCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGC CCAGGGACCTCCGCAGGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0002 a0001c0006t0001g0002	1	319	0.0031	819	c.-31 others(830): Show c.-3159_-3158insCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCT CCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCAC CCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCCCCCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACC TCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCT CAGCCCAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAA CCTCCGCAGGCCACCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACC CTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCCT CCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3073		chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136534873	C C	CTCCCCAC others(812): Show CTCCCCACAGACCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCC CCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCAC AGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAG CCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCTCAGT CCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCT CCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCCAGTCCCTCCC CACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCCTCCCCACAGA GCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCC CCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCGAGTC CGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCCCCCAAGTCCGTCC CCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCCCCCCACAG AGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGCTCCAGTCC CTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAGCCCCCGAGTCTGTCC CCACAGGCCCCACTGGACACCAGGCTCCAGTCCCTCCCCACAGAGCCCCC AGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCTCACAGAGCCCCCGAGTC CCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCC CCACAGAGCCCCCAAGTCCG	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0124 a0001c0002t0006g0124	1	324	0.0031	819	c.140 others(836): Show c.140+9150_140+9151insCGGACTTGGGGGCTCTGTGGGGAGGGAC TGGGGGGCTCTGTGGGGAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGG GGCTCTGTGAGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCTC TGTGGGGAGGGACTGGAGCCTGGTGTCCAGTGGGGCCTGTGGGGACAGAC TCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGA GCCTGGTGTCCAGTGGGGCCTGTGGGGACAGACTCGGGGGCTCTGTGGGG GGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCCTGTGGGGACGGAC TTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTCTGTGGGGACGGACTCGGG CTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGCTCTG TGGGGAGGGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGG GAGGGACTGGGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGA CTGGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTG GGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGAGGG GCTCTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTTGGCTCTGTGG GGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAC GGACTCGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGAC TGGGGGGCTCTGTGGGGAGGGACTGGGGGGGTCTGTGGGGA	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
OGDHL_chr10_49729641_49767323	49742423	C C	CACACCAC others(812): Show CACACCACACACACCATACACACATACACACTCCACACACACCACACATA TATCACACACACCACATACACACTCCACACACACCACACATACATCACAC ACACCATACACCACACACACACCACACACTACACACCACACCCACCCACG CATACCACACATATCCCCTTACATACCACACACATCCCCTACACACACGC CACATACACACACCATACACATCCCCCACAGACACACATACCCCTACATA CCACACACATCCCCTACACACATGCCATACACACACCATACACATCCCCC ACAGACACACATACACACCACACACATACACAAACACTGCACACATACAC ACCCCACACATACAACACACACGACACACCACACACATACACAAACACTG CGCACATACACACCCCACACATACAACACACACGACACACCACACAACCA TACAGACACAAACACATACACCACACACACCACATACACAACAAACATGC CACACACAAATACCACACACACCACATACACACACCCCCCATTCACCACA CACCACATACACACCATTCACACTACACATACACTCCACACACACACCAC ATACACACCATACACACCACACATATCTCCACACACACACCACATACATA CACATCCCATCCACACACACCACACACCCACACACACACACTCCAAACTC CACACACACTCCAAACACCACACAAATACACCTACACACACATCACACAC CCACACCACACACACACCACACAAACATGCCACACACATACCCCACACCA TACACACACACACACCAAAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0165 a0009c0014t0001g0165	1	316	0.0032	819	c.201 others(836): Show c.2012+404_2012+405insATTTGGTGTGTGTGTGTGTATGGTGTGG GGTATGTGTGTGGCATGTTTGTGTGGTGTGTGTGTGGTGTGGGTGTGTGA TGTGTGTGTAGGTGTATTTGTGTGGTGTTTGGAGTGTGTGTGGAGTTTGG AGTGTGTGTGTGTGGGTGTGTGGTGTGTGTGGATGGGATGTGTATGTATG TGGTGTGTGTGTGGAGATATGTGTGGTGTGTATGGTGTGTATGTGGTGTG TGTGTGGAGTGTATGTGTAGTGTGAATGGTGTGTATGTGGTGTGTGGTGA ATGGGGGGTGTGTGTATGTGGTGTGTGTGGTATTTGTGTGTGGCATGTTT GTTGTGTATGTGGTGTGTGTGGTGTATGTGTTTGTGTCTGTATGGTTGTG TGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGTGCGCAGTGTTT GTGTATGTGTGTGGTGTGTCGTGTGTGTTGTATGTGTGGGGTGTGTATGT GTGCAGTGTTTGTGTATGTGTGTGGTGTGTATGTGTGTCTGTGGGGGATG TGTATGGTGTGTGTATGGCATGTGTGTAGGGGATGTGTGTGGTATGTAGG GGTATGTGTGTCTGTGGGGGATGTGTATGGTGTGTGTATGTGGCGTGTGT GTAGGGGATGTGTGTGGTATGTAAGGGGATATGTGTGGTATGCGTGGGTG GGTGTGGTGTGTAGTGTGTGGTGTGTGTGTGGTGTATGGTGTGTGTGATG TATGTGTGGTGTGTGTGGAGTGTGTATGTGGTGTGTGTGATATATGTGTG GTGTGTGTGGAGTGTGTATGTGTGTATGGTGTGTGTGGTGT	OGDHL	ENSG00000197444.10	transcript	ENST00000374103.9	protein_coding	15/22			chr10	TogoVar
PCDH11X_chrX_91774375_92628230	92437620	T T	TGCTTTTG others(812): Show TGCTTTTGAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT CTTTTTTTTTGTTTTTTTTTTTTGTTTTTTTTTTTGTTTTTTTTTTTGTT TTTTTTTTTTTCTTTTTTTTTTTTTTTATTATACTCTCAGTTTTAGGGTA CATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTG GTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAAT GCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATA TTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAG TGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAA TGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCA TTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTT AATCCAGACTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTA TTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAG CATGATTTATAGTCCTTTGGGTATATACCCAGTAATGGGATGGCTGGGTC AAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCC ACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCT ATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGAT TGCCATTCTAACTGGTGTGA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0050 a0001c0001t0005g0050	1	154	0.0065	819	c.334 others(840): Show c.3344-30666_3344-30665insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTCTTTTTTTTTGTTTTTTTTTTTTGTTTTTTTTTTTGTT TTTTTTTTTGTTTTTTTTTTTTTCTTTTTTTTTTTTTTTATTATACTCTC AGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACA TGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGCATTAGGT ATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCACCACAGTCCC CAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTGTTCAATT CCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCTTGCGATA GTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTACAAAGGAT ATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGTATATGTG CCACATTTTCTTAATCCAGACTATCATTGTTGGACATTTGGGTTGGTTCC AAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGTGCATGTG TCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATACCCAGTAATGG GATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGGAATCGCC ACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCAACAGTGT AAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGTTGTTTCCTGA CTTTTTAATGATTGCCATTCTAACTGGTGTGAGCTTTTGAGTCTT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PIEZO1_chr16_88710338_88790220	88731922	A A	AGAGGGCG others(812): Show AGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGAGGGCGGGGCATG GGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCT GGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTG TGGGGATGCACTGAGTCTGGGGATGGGCGGGGTGTGGGGATGCACTGAGT CTGGGGATGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGATGGGCGGGG TGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGA GTCTGGGGGAGGGGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGG GGTGTGGGGATGCACTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACT GAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGC GGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATGCA CTGAGTCTGGGGGAGGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGG GGGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGATG CACTGAGTCTGGGGGGAGGGGGGGCGTGGGGATGCACTGAGTCTGGGGGA GGGCGGGGTGTGGGGATGCACTGAGTCTGGGGGAGGGGGGGGTGTGGGGA TGCACTGAGTCTGGGGGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGG GGGAGGGCGGGGCGTGGGGATGCACTGAGTCTGGGGAGGGGGGGGTGTGG GGATGCACTGAGTCTGGGGG	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0112 a0002c0009t0001g0112	1	282	0.0036	819	c.299 others(834): Show c.2992-13_2992-12insCCCCCAGACTCAGTGCATCCCCACACCCCC CCCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCA GTGCATCCCCACGCCCCGCCCTCCCCCCAGACTCAGTGCATCCCCACACC CCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGAC TCAGTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTGCATCCCCACA CCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAG ACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCA CACCCCCCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCTCCCCC AGACTCAGTGCATCCCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCC CACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCCCCCTCCC CCAGACTCAGTGCATCCCCACACCCCCCCCTCCCCCAGACTCAGTGCATC CCCACACCCCGCCCTCCCCCAGACTCAGTGCATCCCCACACCCCGCCCAT CCCCAGACTCAGTGCATCCCCACACCCCGCCCATCCCCAGACTCAGTGCA TCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCACACCCCCCCC TCCCCCAGACTCAGTGCATCCCCACGCCCCCCCTCCCCCCAGACTCAGTG CATCCCCACACCCCGCCCATCCCCAGACTCAGTGCATCCCCATGCCCCGC CCTCTCCCCAGACTCAGTGCATCCCCACGCCCCGCCCTC	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	21/50			chr16	TogoVar
PPP1R14C_chr6_150138044_150255392	150167965	T T	TCTTTCTC others(812): Show TCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCT CTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTC CTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCC TTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTC CCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCTCCTTCT TCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTT CCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0216 a0001c0001t0003g0216	1	312	0.0032	819	c.306 others(838): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCT CCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCC CTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTC TCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCT TTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCT CTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
PPP1R14C_chr6_150138044_150255392	150167965	T T	TCTTTCTC others(812): Show TCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTC TTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCT CCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCT TCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCT CTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTC CCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCT CTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCT CTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCC TTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCTCCTTCT TCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTTCTTCTT CCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCTCCTCCCCTTTCTCT CCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCT TTCTCCCCTTCTCTCCTCCC	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0215 a0002c0002t0005g0215	1	312	0.0032	819	c.306 others(838): Show c.306+24474_306+24475insCCCTTCTCTCCTCCCCTCTTTCTCCC CTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTT CTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCT CCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCT CCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCTCTCCTCCCCT CTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTT CTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCT TCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTCTTTCTCCCCTTCT CTCCTCCCCTCTTTCTCTCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTC CTCCCCCTTTCTCCCCTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCC CCCTTTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCT TTCTCTCCTTCTTCTTCCCTCTTTCTCCCCTTCTCTCCTCCCCTCTTTCT CTCCTCCCCTTTCTCTCCTCCCCCTTTCTCCCCTTCTCTCCTCCCCTTTC TCCCCTTCTCTCCTCCCCCTTTCTCCCCTTTCTCTCCTCCCCCTTTCTCC CCTTCTCTCCTCCCCTTTCTCCCCTTCTCTCCTCCCCTTTCTC	PPP1R14C	ENSG00000198729.5	transcript	ENST00000361131.5	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
RAB11FIP3_chr16_420649_528011	458462	C C	CCACAGGG others(812): Show CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGGCCTTCCTCGGGTTCAGTGATGTTCACAGGGCCTAGGGGGCCTTC CTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGG GTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATG CTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCC TGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCAGTGATGTTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGG GGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCA GATTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCT TCCTCGGGTTCACTGATGCT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	295	0.0034	819	c.715 others(836): Show c.715-2872_715-2871insGTGATGTTCACAGGGCCTAGGGGGCCTT CCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA CCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCG GGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGC CTGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGGGGGGCCT TCCTCGGGTTCAGTGATGTTCACAGGGCCTGGGGGGCCTTCCTCGGGTTC ACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCTCA CAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGG GGGCCTTCCTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTC AGATTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGA TGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCCCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTT CACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	458501	C C	CCACAGGG others(812): Show CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGTTCACAGGGCCT GGGGGGCCTTCCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTC CTCGGGTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAC CGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACA GGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGG GCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGG GTTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATG CCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCC TGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTAGGGGGCCTT CCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA GTGATGCTCACAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGG GGCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGAT GCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCT TCCTCAGATTCACTGATGCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0058 a0001c0001t0055g0058	1	295	0.0034	819	c.715 others(836): Show c.715-2872_715-2871insGTGATGTTCACAGGGCCTGGGGGGCCTT CCTCGGGTTCACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA GTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCAC AGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGG GGCCTTCCTCAGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCG GGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGAT GCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGC CTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCT TCCTCAGATTCACTGATGCTCACAGGGCCTAGGGGGCCTTCCTCGGGTTC ACCGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCTCA CAGGGCCTGGGGGGCCTTCCTCAGATTCACTGATGCTCACAGGGCCTGGG GGGCCTTCCTCGGGTTCACTGATGCTCACAGGGCCTGGGGGGCCTTCCTC AGATTCACTGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACTGA TGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGG CCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCC TTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCAGATT CACTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(812): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAACCTGTCATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCACA CCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGGT CAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGATGGAG TTTTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCAC GGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCG AGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATATT TTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG02015.hp1 others(3): Show HG00423.hp1 HG00544.hp2 HG02015.hp1 HG02129.hp1 HG02523.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0143 others(3): Show a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0143 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0169	6	208	0.0289	819	c.137 others(836): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCACTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCAGG GGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTGAGACGGCGTC TCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTC ACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATAGG CGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGC CCACCTCAGCCTCCCAAAGTGCTGGGATGACAGGTTTGAGCCACCACACC CGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTACT ATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCAGA CTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGCGC AGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTGGA TCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
RNF170_chr8_42848301_42901605	42884900	T T	TCATGTTG others(812): Show TCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGGGATCCACCTG CCTCAGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCGACTGCGCCTGG CAATAATGGAAACTTTTTACTTTGGGCTTCACATCATTCTAGTCTGGAGA TGTGGAGAAAAAACTTTTATCATACAAATAATAAATATTCATAGTAGAGA AATCAGAAAATAATAGAAAAATATTTAAAATAAAAATAGCCGGGTGTGGT GGCTCAAGCCTGTCATCCCAGCACTTTGGGAGGCTGAGGTGGGCGGATCA CGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATATAAAAAATTAGCCTGGCGCGATGGCGGGCGCCTATAGT CCCAGCTACTCGGGAGGCCGAGGCAGGAGAATGGCATGGTGTGAACCCGG GAGGCGGAGCTTGCAGCGAGCCGACATAGGGCGAAAGAGTGAGACGCCGT CTCAAAAAAAAAAAAAAAAAAATAGTCTTCGCCGGGCACGGTGGCTCACA CCTGTAATCCCAACACTTTGGGAGGCTAGGGCAGGTGGATCCCCTGAGGT CAGGCGAAAGCGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGGATGGAG TTTTGCTCTTGTCGCCCAGGCTGGAGTGCAGTGGTACGATCTCGGCTCAC GGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCAGCCTCAGCCTCCCG AGTAGCGGCACTACGGGCATATGCTACCACACCTGGCTAATTTTCATATT TTTAGTAGAGACAGGGTCAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 NA18906.hp1 HG01167.hp1 HG01169.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0039 a0001c0001t0001g0107 a0001c0001t0008g0190 a0001c0001t0001g0039 a0001c0001t0001g0107 a0001c0001t0008g0190	3	208	0.0144	819	c.137 others(836): Show c.137+2827_137+2828insGTGACCCTGTCTCTACTAAAAATATGAA AATTAGCCAGGTGTGGTAGCATATGCCCGTAGTGCCGCTACTCGGGAGGC TGAGGCTGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCCGTGAGCCG AGATCGTACCACTGCACTCCAGCCTGGGCGACAAGAGCAAAACTCCATCC TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCGCTTTCGCCTGACCTCAGG GGATCCACCTGCCCTAGCCTCCCAAAGTGTTGGGATTACAGGTGTGAGCC ACCGTGCCCGGCGAAGACTATTTTTTTTTTTTTTTTTTTGAGACGGCGTC TCACTCTTTCGCCCTATGTCGGCTCGCTGCAAGCTCCGCCTCCCGGGTTC ACACCATGCCATTCTCCTGCCTCGGCCTCCCGAGTAGCTGGGACTATAGG CGCCCGCCATCGCGCCAGGCTAATTTTTTATATTTTTAGTAGAGACGGGG TTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGC CCACCTCAGCCTCCCAAAGTGCTGGGATGACAGGCTTGAGCCACCACACC CGGCTATTTTTATTTTAAATATTTTTCTATTATTTTCTGATTTCTCTACT ATGAATATTTATTATTTGTATGATAAAAGTTTTTTCTCCACATCTCCAGA CTAGAATGATGTGAAGCCCAAAGTAAAAAGTTTCCATTATTGCCAGGCGC AGTCGCTCACGCCTGTAATCCCAACACTTTGGGAGACTGAGGCAGGTGGA TCCCCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATG	RNF170	ENSG00000120925.16	transcript	ENST00000527424.6	protein_coding	2/6			chr8	TogoVar
ROBO2_chr3_77035099_77654964	77323000	T T	TTATATTA others(812): Show TTATATTATATTATGGATAATATAATATATTATATTATGGATAATCTAAT ATATTATATTATATTATGGATAATCTAATATATTATATTATATTATGGAT AATCTAATATATTATATTATATTATGGATAATATAATATATTATATTATG GATAATATAATATATTATATTATGGATAATATAATATATTATATTATGGA TAATATATTATATTATGGATAATATAATATATTATATTATGGATAATATA TTATATTATGGATAATATAATATATTATATTATGGATAATATATTATATT ATGGATAATATATTATATTATGGATAATATATTATATTATGGATAATATA ATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAAT ATATTATATTATGGATAATATAATATATTATATTATGGATAATATAGTAT ATTATGGATAATATAATATATTATATTATGGATAATATAATATATTATAT TATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTA TGGATAATATAATATATTATATAATATATTATATTATGGATAATATAATA TATTATATAATATATTATATTATGGATAATATAATATATTATATAATATA TTATATTATGGATAATATAATATATTATATTATATTATGGATAATATAAT ATATTATATTATATTATGGATAATATAATATATTATATTATATTATGGAT AATATAATATATTATATTATATTATGGATAATATAATATAATATATTATA TTATGGATAATATAATATAA	intron_variant intron_variant	MODIFIER	NA19077.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	160	0.0063	819	c.389 others(840): Show c.389-154377_389-154376insGGATAATCTAATATATTATATTAT ATTATGGATAATCTAATATATTATATTATATTATGGATAATCTAATATAT TATATTATATTATGGATAATATAATATATTATATTATGGATAATATAATA TATTATATTATGGATAATATAATATATTATATTATGGATAATATATTATA TTATGGATAATATAATATATTATATTATGGATAATATATTATATTATGGA TAATATAATATATTATATTATGGATAATATATTATATTATGGATAATATA TTATATTATGGATAATATATTATATTATGGATAATATAATATATTATATT ATGGATAATATAATATATTATATTATGGATAATATAATATATTATATTAT GGATAATATAATATATTATATTATGGATAATATAGTATATTATGGATAAT ATAATATATTATATTATGGATAATATAATATATTATATTATGGATAATAT AATATATTATATTATGGATAATATAATATATTATATTATGGATAATATAA TATATTATATAATATATTATATTATGGATAATATAATATATTATATAATA TATTATATTATGGATAATATAATATATTATATAATATATTATATTATGGA TAATATAATATATTATATTATATTATGGATAATATAATATATTATATTAT ATTATGGATAATATAATATATTATATTATATTATGGATAATATAATATAT TATATTATATTATGGATAATATAATATAATATATTATATTATGGATAATA TAATATAATATATTATATTATGGATAATATAATATATTATATTAT	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RPH3AL_chr17_207389_357807	356532	T T	CCACAGGC others(812): Show CCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGAC CGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACA CACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAG TCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACA GGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGC ACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACAC ACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCC TCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGA CCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCAC ACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACA GTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCAC AGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCG CACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCACACACA CACACAGTCGCCTCCACAGGCGACCGCGCACCACACACACACACAGTCGC CTCCACAGGCGACCGCGCACCACACACACACACAGTCGCCTCCACAGGCG ACCGCGCACCACACACACACACAGTCGCCTCCACAGGCGACCGCGCACCA CACACACACACAGTCGCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 NA19088.hp2 HG00408.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0080 a0001c0001t0021g0077 a0001c0001t0001g0080 a0001c0001t0021g0077	2	133	0.0150	819	c.-40 others(830): Show c.-4033_-4032insAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCC TGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGA CTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTG TGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCG GTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG AGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTG TGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGG TGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGC CTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCG ACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGT GTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGC GGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTG GAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGT GTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTG GTGCGCGGTCGCCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCG CCTGTGGAGGCGACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGGAGGC GACTGTGTGTGTGTGTGGTGCGCGGTCGCCTGTGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding		3725		chr17	TogoVar
S1PR4_chr19_3173769_3185332	3178012	A A	ATCGGGCT others(812): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	819	c.-78 others(828): Show c.-781_-780insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGC TCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		756		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178051	A A	ATCGGGCT others(812): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	819	c.-74 others(828): Show c.-742_-741insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGC TCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		717		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178051	A A	ATCGGGCT others(812): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA19075.hp1 NA18954.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	418	0.0048	819	c.-74 others(828): Show c.-742_-741insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGC TCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		717		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178051	A A	ATCGGGCT others(812): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18963.hp2 NA18963.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	819	c.-74 others(828): Show c.-742_-741insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGC TCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		717		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178051	A A	ATCGGGCT others(812): Show ATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	418	0.0024	819	c.-74 others(828): Show c.-742_-741insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGC TCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCC	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		717		chr19	TogoVar
S1PR4_chr19_3173769_3185332	3178129	C C	CTCGGGCT others(812): Show CTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTC TGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGT TTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTG CAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGG GCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGC CTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCC CTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACG CCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCT CTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAG TTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCT GCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCG GGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGG CCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCC CCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02451.hp2 HG02572.hp1 HG02055.hp1 HG02451.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	418	0.0072	819	c.-66 others(828): Show c.-664_-663insTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAAC GCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTC TCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCA GTTTCCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTC TGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCATC GGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGG GCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTC CCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAA CGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCT CTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTC AGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTT CTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCAT CGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTG GGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGCTCTCTGGGCCTCAGTTT CCCCTTCTGCAACGCATCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCA ACGCCTCGGGCTCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCCTCGGGC TCTCTGGGCCTCAGTTTCCCCTTCTGCAACGCA	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		639		chr19	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(812): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATATTCCATATATATATATATTCCATATATATATAT ATATTCCATATATATATATATATTCCATATATATATATATTCCATATATA TATATATATTCCATATATATATATATTCCATATATATATATATTCCATAT ATATATATATTCCATATATATATATATTCCATATATATATATATTCCATA TATATATATTCCATATATATATATATTCCATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATTCCATATATATATA TTCCATATATATATATTCCATATATATATATTCCATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATATTCCATATA TATATATTCCATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATTCCATATATATATATTCCATATA TATATATTCCATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0079 a0001c0003t0001g0079	1	324	0.0031	819	c.115 others(836): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATGGAATATATATATATGGAATATATATATATGGAATATA TATATATGGAATATATATATATGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATGGA ATATATATATATATGGAATATATATATATATGGAATATATATATATGGAA TATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATGGAATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATAT GGAATATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATATGGAATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATATG GAATATATATATATATGGAATATATATATATATATGGAATATATATATAT ATATGGAATATATATATATATGGAATATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(812): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATATTCCATATATATATATATTCCATATATATATATATATTCCATATAT ATATATATTCCATATATATATATATATTCCATATATATATATATTCCATA TATATATATATATTCCATATATATATATATTCCATATATATATATATATT CCATATATATATATATTCCATATATATATATATATTCCATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATATT CCATATATATATATTCCATATATATATATATTCCATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATTCCATATATATATATATTCCATATATATATATATTCCA TATATATATATATTCCATATATATATATATTCCATATATATATATATTCC ATATATATATATATTCCATATATATATATTCCATATATATATATATTCCA TATATATATATTCCATATATATATATTCCATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	324	0.0031	819	c.115 others(836): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATATGGAATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATGGAATATATA TATATATGGAATATATATATATGGAATATATATATATATGGAATATATAT ATATGGAATATATATATATATATGGAATATATATATATATGGAATATATA TATATATATGGAATATATATATATATGGAATATATATATATATATGGAAT ATATATATATATGGAATATATATATATATATGGAATATATATATATATGG AATATATATATATATATGGAATATATATATATATGGAATATATATATATA TATGGAATATATATATATATGGAATATATATATATATGGAATATATATAT ATATGGAATATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(812): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGG TCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCC GCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGG GGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGA GGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGC CCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCC CGGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTG CCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0170 a0004c0006t0002g0170	1	370	0.0027	819	c.284 others(838): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGG CTGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439985	T T	TGGGAGGT others(812): Show TGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCG GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGG CCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGT CGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCG CCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAA GTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGG GGGGGGGGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAG GGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCC CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCC GGCCAGACGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTG CCTGGCCAGCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0169 a0004c0006t0002g0169	1	370	0.0027	819	c.284 others(838): Show c.284+18969_284+18970insGGACGGGGCAGCTGGCCAGGCAGGGG GGCCGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGTCTGGCCGGGCGG GGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACAGGGCGGCTGGCTGGGCGGGGGGGCTGACCCCCCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTG GCTGGGCGGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCC CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCC CCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCA CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SERINC2_chr1_31408213_31439678	31432173	A A	ATAGGGTG others(812): Show ATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGT TAGGGTGGTTAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGG TGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGACAGGGT GGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATA GGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGAGAG GGTGCAGAGGGTGCAGAGGGTGCAGAGGGTGGAGAGGGTGGAGAGGGTGG AGAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGATAGG GTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGG TGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAC AGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGGT GGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATA GGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTG GATAGGGTGGATAGGGTGGT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0290 a0001c0001t0002g0290	1	376	0.0027	819	c.101 others(836): Show c.1014-777_1014-776insACAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGTTAGGG TGGTTAGGGTGGTTAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGAT AGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGACA GGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTG GATAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTGGATAGGGTGGATAG GGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGG AGAGGGTGCAGAGGGTGCAGAGGGTGCAGAGGGTGGAGAGGGTGGAGAGG GTGGAGAGGGTGGAGAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGACAGGG TGGACAGGGTGGTTAGGGTGGATAGGGTGGTTAGGGTGGACAGGGTGGAC AGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGATAGGGT GGACAGGGTGGATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGTTAGGGTG GATAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGTTAG GGTGGATAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLAIN1_chr13_77692687_77769229	77703963	T T	TATGTTTT others(812): Show TATGTTTTATAAGTGTATATATACACATAAAATATATATACATATGTTTT ATAAGTGTATATATACACATAAAATATATATACATATGTTTTATATGTGT ATATATACACATAAAATATATATACATATGTTTTATATGTGTATATATAC ACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATAT AAAATATATATACATATGTTTTATATGTATATACACATATAAAATATATA TACATATGTTTTATATGTGTATATATACACATATAAAATATATATACATA TGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATAT GTATATATACATATAAAATATATATACATATGTTTTATATGTATATATAT ACATATAAAATATATATACATATAAAATATATACATATAAAATATATATA CATATGTTTTATATGTATATATACATATAAATATATATACATATGTTTTA TATGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATA TATATACATAGAAAATATATATACATGTTTTATATGTATATATATACATA GAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATATAT ATACATATGTTTTATATGTATATATATACATAGAAAATATATATACATAC GTTTTATATGTATATATATACATAGAAAATATATATACATACGTTTTATA TGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATATA TACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0166 a0002c0002t0001g0166	1	300	0.0033	819	c.626 others(836): Show c.626+5434_626+5435insAGTGTATATATACACATAAAATATATAT ACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATATGT TTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATATG TGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTATA TATACACATATAAAATATATATACATATGTTTTATATGTATATACACATA TAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAAT ATATATACATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATA TGTATATATATACATATAAAATATATATACATATAAAATATATACATATA AAATATATATACATATGTTTTATATGTATATATACATATAAATATATATA CATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTT TTATATGTATATATATACATAGAAAATATATATACATGTTTTATATGTAT ATATATACATAGAAAATATATATACATGTTTTATATGTATATATATACAT AGAAAATATATATACATATGTTTTATATGTATATATATACATAGAAAATA TATATACATACGTTTTATATGTATATATATACATAGAAAATATATATACA TACGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTT ATATGTATATATACATAGAAAATATATATACATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77703963	T T	TATGTTTT others(812): Show TATGTTTTATAAGTGTATATATACACATATAAAATATATATACATATGTT TTATAAGTGTATATATACACATAAAATATATATACATATGTTTTATATGT GTATATATACACATAAAATATATATACATATGTTTTATATGTGTATATAT ACACATATAAAATATATATACATATGTTTTATATGTGTATATATACACAT ATAAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAA TATATATACATATGTTTTATATGTGTATATATACACATATAAAATATATA TACATATGTTTTATATGTATATATACATATAAAACATATATGTTTTATAT GTATATATACATATAAAATATATATACATATGTTTTATATGTATATATAT ACATATAAAATATATATACATATAAAATATATACATATAAAATATATATA CATATGTTTTATATGTATATATACATATAAATATATATACATATGTTTTA TATGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATA TATATACATAGAAAATATATATACATGTTTTATATGTATATATATACATA GAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATATAT ATACATATGTTTTATATGTATATATATACATAGAAAATATATATACATAC GTTTTATATGTATATATATACATAGAAAATATATATACATACGTTTTATA TGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATATA TACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	300	0.0033	819	c.626 others(836): Show c.626+5434_626+5435insAGTGTATATATACACATATAAAATATAT ATACATATGTTTTATAAGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATAAAATATATATACATATGTTTTATA TGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTGTA TATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATA CACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATA TAAAATATATATACATATGTTTTATATGTATATATACATATAAAACATAT ATGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATA TGTATATATATACATATAAAATATATATACATATAAAATATATACATATA AAATATATATACATATGTTTTATATGTATATATACATATAAATATATATA CATATGTTTTATATGTATATATATACATAGAAAATATATATACATATGTT TTATATGTATATATATACATAGAAAATATATATACATGTTTTATATGTAT ATATATACATAGAAAATATATATACATGTTTTATATGTATATATATACAT AGAAAATATATATACATATGTTTTATATGTATATATATACATAGAAAATA TATATACATACGTTTTATATGTATATATATACATAGAAAATATATATACA TACGTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTT ATATGTATATATACATAGAAAATATATATACATGTTTTATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLAIN1_chr13_77692687_77769229	77703963	T T	TGTTTTAT others(812): Show TGTTTTATAAGTGTATATATACACATATAAAATATATATACATATGTTTT ATAAGTGTATATATACACATAAAATATATATACATATGTTTTATATGTGT ATATATACACATAAAATATATATACATATGTTTTATATGTGTATATATAC ACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATAT AAAATATATATACATATGTTTTATATGTGTATATATACACATATAAAATA TATATACATATGTTTTATATGTATATATACATATAAAATATATATACATA TGTTTTATATGTATATATACATATAAAATATATATACATATGTTTTATAT GTATATATACATATAAAATATATATACATATGTTTTATATGTATATATAT ACATATAAAATATATATACATATAAAATATATACATATAAAATATATATA CATATGTTTTATATGTATATATACATATAAATATATATACATATGTTTTA TATGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATA TATATACATAGAAAATATATATACATGTTTTATATGTATATATATACATA GAAAATATATATACATGTTTTATATGTATATATATACATAGAAAATATAT ATACATATGTTTTATATGTATATATATACATAGAAAATATATATACATAC GTTTTATATGTATATATATACATAGAAAATATATATACATATGTTTTATA TGTATATATATACATAGAAAATATATATACATATGTTTTATATGTATATA TACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0016	2	300	0.0067	819	c.626 others(836): Show c.626+5424_626+5425insGTTTTATAAGTGTATATATACACATATA AAATATATATACATATGTTTTATAAGTGTATATATACACATAAAATATAT ATACATATGTTTTATATGTGTATATATACACATAAAATATATATACATAT GTTTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTA TATGTGTATATATACACATATAAAATATATATACATATGTTTTATATGTG TATATATACACATATAAAATATATATACATATGTTTTATATGTATATATA CATATAAAATATATATACATATGTTTTATATGTATATATACATATAAAAT ATATATACATATGTTTTATATGTATATATACATATAAAATATATATACAT ATGTTTTATATGTATATATATACATATAAAATATATATACATATAAAATA TATACATATAAAATATATATACATATGTTTTATATGTATATATACATATA AATATATATACATATGTTTTATATGTATATATATACATAGAAAATATATA TACATATGTTTTATATGTATATATATACATAGAAAATATATATACATGTT TTATATGTATATATATACATAGAAAATATATATACATGTTTTATATGTAT ATATATACATAGAAAATATATATACATATGTTTTATATGTATATATATAC ATAGAAAATATATATACATACGTTTTATATGTATATATATACATAGAAAA TATATATACATATGTTTTATATGTATATATATACATAGAAAATATATATA CATATGTTTTATATGTATATATACATAGAAAATATATATAC	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6			chr13	TogoVar
SPIRE2_chr16_89823475_89876319	89852485	C C	CCCCCACC others(812): Show CCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCTCTCACCCC CCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCAT GGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATCTTC CATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCC CACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGA TCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGGCCC ATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCC TCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCACCCC CCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATCCCCT GGCCCGTCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTC CATCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCC CACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGA TCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCC ATCTTCCATCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCC TCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCTCCACCC CCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCA TGGCCCATCTTCCATCCTCT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02647.hp2 HG02886.hp2 HG02257.hp2 HG02647.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286	3	356	0.0084	819	c.646 others(836): Show c.646-1783_646-1782insCTGGCCCATCTTCCATCCTCCCTCTCAC CCCCCATATTCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCC CATGGCCCATCTTCCATCCTCCCCCCACCCACCAGATCCCATGGCCCATC TTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCT CCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCC AGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCACCAGATCCCATGG CCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATCTTCCA TCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCCCCCAC CCCCCAGATCCCATGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATCC CCTGGCCCGTCTTCCATCCTCCCCCCACCCCCCAGATCCCATGGCCCATC TTCCATCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCATCCTCT CCCCACCCACCAGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCC AGATCCCATGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATCCCATGG CCCATCTTCCATCCTCTCCCCACCCCCCAGATCCCATGGCCCATCTTCCA TCCTCCCCCCACCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCTCCA CCCCCCAGATCCCCTGGCCCATCTTCCATCCTCCCCCCACCCCCCAGATC CCATGGCCCATCTTCCATCCTCTCCCCACCCCCCAGATCCC	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRXN1_chr20_641615_658200	642207	T T	TGCCCAGC others(812): Show TGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTT GCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCA GCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGG GGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGGGGCCC AGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGTTGCCT GTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGT GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTG CCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGT GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGG GTGGAGTTGCCTGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	422	0.0024	819	c.65 others(830): Show c.6506_*6507insCCCCCCCCAGGCAACTCCACCCCTGCTGGGCCCC CCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCACAGGCAACTCCAC CCCCGCTGGGCCCCCCACCACAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCG CTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGG CAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCCAGGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCC CCGCTGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCAC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACC CCCGCTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4407		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(812): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGG TTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCC AGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGTTGCCT GGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGT GGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGG GGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGGGT TGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGGG GGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0031 a0001c0001t0001g0005 a0001c0001t0001g0031	2	422	0.0047	819	c.64 others(830): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCA CCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCT GGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAAC TCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCC CCCCCCAGGCAACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCC CCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCC CCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCC AGGCAACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTG GGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
TERT_chr5_1248167_1300068	1273459	G G	GCCATCCA others(812): Show GCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCA CCACACATCAGACCCCTGTGACCGACCGCCATCCACAGTCACCACATCAG ACCCCACAACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCAT CCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGAC CCCACGACCGCCATCCACAGTCACCACATCAGACCCCTGTGACCGACCGC CATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCAC ACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCTAC GACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACA GTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCA GACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGACCGC CATCCACAGTCACATCAGACCCCACGACCGCCATCCACAGTCACCACACA TCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCACGAC CGCCATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTC ACCACACATCAGACCCCACA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0228 a0001c0001t0002g0228	1	392	0.0026	819	c.228 others(838): Show c.2287-1180_2287-1179insTGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTG GTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGG TCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTG ACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTC GGTCACAGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATG TGGTGACTGTGGATGGCGGTCGGTCACAGGGGTCTGATGTGTGGTGACTG TGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(812): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0011 a0001c0001t0018g0011	1	444	0.0023	819	c.227 others(838): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(812): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0007 a0004c0006t0007	a0004c0006t0007g0035 a0004c0006t0007g0035	1	444	0.0023	819	c.227 others(838): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCT TCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(812): Show TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCCTCC TCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCT CTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCC CCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTC CCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCC CCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCTA CCCCTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCC CCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTC CCCTCTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTTCC CCTTCCCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCC CCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCC CCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCACC	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	114	0.0088	819	c.-25 others(838): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCTC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCT CCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTC CCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCT CTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTC CCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCC CCCTCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTC CTACCCCTCCCCCTTACCCTTCCCCTTCCCCCCCTCTGCCCTCCCCTATC CCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCC CTCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377604	T T	TCTCCCCT others(812): Show TCTCCCCTCCCCTCTCCCCCCCTCCTCTCTCCCCTCCCCTCTCCCCTCCC CTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTCCTCCCTCCT CTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCTCT CCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCC TCGCCCTTCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCT CCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCG TCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCT CTCCCTTTCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCCCTCCCCTACCC CTACCCCCCCTGCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCCCT CTCCCCTCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCT CTCCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCTTACCCTTCCCTTCC CCCCCTCTGCCCTCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCC TCCCCCCTCCCCTATCCCCTCTCCCCCTCTCCCCTCTCCCCTCCCCTCTC CCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCTCCCACC	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0040 a0001c0004t0002g0040	1	114	0.0088	819	c.-25 others(838): Show c.-25-12157_-25-12156insCTCCCCTCCCCTCTCCCCCCCTCCTC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTCTCCTCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTC CTCTCCTCCCCTCTCCTCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCC CTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCTCTTCCCTCCCCTCTC CCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTC CCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCC TCTCCCCTTCCCTCCCCTCCCCTCTCCCTTTCCCTCCCCTCCCCTCCCCC TCCCCCTTCCCCCTCCCCTACCCCTACCCCCCCTGCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCCTCTCCTAC CCCTCCCCTTACCCTTCCCTTCCCCCCCTCTGCCCTCCCTATCCCCTCCT CTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTATCCCCTCTCCCCC TCTCCCCTCTCCCCTCCCCTCTCCCCCTCTCCCCTCCCCTCTCCCCTCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCT CCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCACC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18			chr19	TogoVar
TP53AIP1_chr11_128930370_128947871	128930619	C C	CTGGGGTT others(812): Show CTGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCCGGGG TTAGGGAGGCTGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGG CTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGG GTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTA GGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGA GGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGGTTAGGGAGGCC AGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGT TAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGG AGGCCAGGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGG GGGTTAGGGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGTT AGGGAGGCTGGGGTTAGGGAGGCCAGGGGGTTAGGGAGACCAAGGGTTAG GGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCAGGGGTTAGGGAG GCCAGGGTTAAGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGG GGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGGTAG GGAGGCTGGGGTTAGGGAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	466	0.0022	819	c.49 others(830): Show c.4971_*4972insCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCC CTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCTTAACCCTGGCCTCCCTAACCCCTG GCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCTTGGTCT CCCTAACCCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCC TACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCCAGCCTCCCTAAC CCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAACCCCG GCCTCCCTAACCCCAGCCTCCCTAACCCCCTGGCCTCCCTAACCCCGGCC TCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCT AACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCC CCAGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCTGG CCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCAGCCTCC CTAACCCCAGCCTCCCTAACCCCTGGCCTCCCTAACCCCGGCCTCCCTAA CCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCA GCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCAGCCTC CCTAACCCCTGGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTA ACCCCAGCCTCCCTACCCTGGCCTCCCTAACCCCA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4750		chr11	TogoVar
TTLL8_chr22_50013575_50063298	50029095	A A	ATCCTGAA others(812): Show ATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGA AGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCC ACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACA CTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAA AGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCC ATCACACCGTCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCACA CCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCT GAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACC CCACACACACTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACA CCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACACCCTCG TAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGAC CCCATCACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCA CACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTC CTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGA CCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACA CACCCTCGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTC GTAAAGACCCCATCACACCG	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0035 a0002c0002t0001g0035	1	224	0.0045	819	c.225 others(838): Show c.2251+1334_2251+1335insCGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCA GGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGT GTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGG GGTCTTTACGAGTGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTT ACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGG TGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTG GGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGTCTT CAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGAT GGGGTCTTTACGAGTGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGA GGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTACGAGTGTGTG TGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTC TTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA CGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGA	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
ULK1_chr12_131889622_131928150	131917308	G G	GCTGTGGG others(812): Show GCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGT CGGGTGGGGCTCGGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGC TGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAG GCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ACGGGGGTCGGGGGGAGCTCGGAGGCTGTGGGATGGGGCTCGGGTTCGGC TCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGC TGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGAT GGGGGTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGTGG GATGGGGCTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTG TGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGG GGCTCGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAG GCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTC GGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGG GTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCTCGAGGC TGTGGGACGGGGGTCGGGTT	intron_variant intron_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0211 a0001c0010t0002g0211	1	344	0.0029	819	c.218 others(836): Show c.2183-103_2183-102insCTGTGGGATGGGGCTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCT CGGAGGCTGTGGGACGGGGGTCGGGTGGGGCTCGGAGGCTGTGGGACGGG GGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGACG GGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGACGGGGGTCGGGGGGAGCTCGGAGGCTGT GGGATGGGGCTCGGGTTCGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGC TGTGGGACGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGAT GGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGACGGGGGTCG GGGGGAGCTCGGAGGCTGTGGGATGGGGCTCGGGTTCGGCTCGGAGGCTG TGGGATGGGGCTCGGAGGCTGTGGGACGGGGGTCGGAGGCTGTGGGATGG GGGTCGGAGGCTGTGGGATGGGGCTCGAGGCTGTGGGATGGGGCTCGGAG GCTGTGGGATGGGGCTCGGAGGCTGTGGGATGGGGCTCGGAGGCTGTGGG ATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGCT CGAGGCTGTGGGACGGGGGTCGGGTTCGGCTCGGAGGCTGTGGGATGGGG CTCGGAGGCTGTGGGATGGGGGTCGGAGGCTGTGGGATGGGGGTCGGAGG CTGTGGGATGGGGCTCGAGGCTGTGGGACGGGGGTCGGGTT	ULK1	ENSG00000177169.10	transcript	ENST00000321867.6	protein_coding	21/27			chr12	TogoVar
USP2_chr11_119350215_119386690	119351510	C C	CCTCCTCT others(812): Show CCTCCTCTCTCCTCCTCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCC TCTGTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCC TCTCTCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCCTCTCT CCTCCCCTCCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCT CCGCTCCGCTCCCCTCTCCTCCACTCCTCTCCCCTCCCTTCCCCTCTCCT CCCCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCCCTCCTCTCTCCT CCCCTCCCCTCCTCTCTCCTCCCCTCCCCTCCCCTCTCTCCTCCGCTCCC CTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTCCTCCCCTCCT CTCTCCTCCCCTCCCCTCTCCTCCGCTCCTCTCCCCTCCCTTCCCCTCTC CTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCTGCTCCTCTCCCCTCCC TTCCCCTCTCCTCCCCTCCTCTCTCCTCCCCTCCCCTCTCCTCCGCTCCC CTCCCCTCTCCTCCACTCCTCTCCCCTCCCCTCCTCTCTCCTCCACTCCT CTCCCCTCCTCTCCTCTCTCCTCCCCTCCCCTCTCCTCCCCTCCCCACCC CTCCCCTCCCCTCCTTTCTCCTCCCCTCCCCACGGCTCCCCTCCCCTCCT TTCTCCTCCCTTGCCATCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 NA20129.hp2 HG03540.hp1 NA20129.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0015 a0001c0005t0030 a0001c0005t0015 a0001c0005t0030	a0001c0005t0015g0153 a0001c0005t0030g0152 a0001c0005t0015g0153 a0001c0005t0030g0152	2	202	0.0099	819	c.53 others(830): Show c.5324_*5325insAGGATGGCAAGGGAGGAGAAAGGAGGGGAGGGGA GCCGTGGGGAGGGGAGGAGAAAGGAGGGGAGGGGAGGGGTGGGGAGGGGA GGAGAGGGGAGGGGAGGAGAGAGGAGAGGAGGGGAGAGGAGTGGAGGAGA GAGGAGGGGAGGGGAGAGGAGTGGAGGAGAGGGGAGGGGAGCGGAGGAGA GGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGA GCAGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGAGGGGAAGGGA GGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGGAGAGAGGAGGGGAGGAGA GGGGAAGGGAGGGGAGAGGAGCGGAGGAGAGGGGAGGGGAGCGGAGGAGA GAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGG GAGGGGAGGAGAGGGGAAGGGAGGGGAGAGGAGGGGAGGAGAGGGGAAGG GAGGGGAGAGGAGTGGAGGAGAGGGGAGCGGAGCGGAGGAGAGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAG GGGAGGGGAGGAGAGAGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGAGAGAGGAGGGGAGGGGAG GGGAGGAGAGAGGAGGGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG GGGAGGGGAGGGGAGGACAGAGGAGGAGAGAGGAG	USP2	ENSG00000036672.16	transcript	ENST00000260187.7	protein_coding		3704		chr11	TogoVar
VCX2_chrX_8164944_8176267	8169170	T T	TCCTCCCT others(812): Show TCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACAC ACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCT CCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCACACACCAC CTCTTCCTCCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCC ACACACCACCTCTTCCTCCCTCCCTCCTCACACACCACCTCTTCCTCCCT CCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACA CCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCC CCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCT CCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCCA CACCACCGCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCC TCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCTC TTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCTCCCC ACACCACCGCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCACCT CTTCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACA CACCTCTTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCC TCACACACCACCGCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0003 a0002c0001t0001g0003	1	115	0.0087	819	c.86 others(828): Show c.861_*862insGAGGAAGCGGTGGTGTGTGAGGAGGGAGGGAGGAAG AGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGA GGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGAAGCGGTGGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGCGGTGGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGGGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGAGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAG GTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		773		chrX	TogoVar
ABR_chr17_998519_1184981	1164255	C C	CGGACCCT others(813): Show CGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAGGGACC CCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCATCTAGG TAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCAG GGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCAT CCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGCA GGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGCA TCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACGC AGGGGCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAGC ATCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACTGAATCCAGACG CAGGGGCCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGTCGGAG GATCTAGGTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTGAATCC AGACGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATGGATGT CGGAGCATCTAGGTAGGACGGACCCTGGCAAAGTGTCACACACAGCACTG AATCCAGACGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACATG GATGTCGGAGCATCCAGGTGGGACCCTGGCAAAGTGTCACACACAGCACT GAATCCAGACGCAGGGACCCCAGATAAACTGCAAGACGCCCAGTGAACAT GGATGTCGGAGCATCTAGGTG	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0092 a0001c0002t0092	a0001c0002t0092g0336 a0001c0002t0092g0336	1	337	0.0030	820	c.61+ others(837): Show c.61+15411_61+15412insCACCTAGATGCTCCGACATCCATGTTCA CTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCTG TGTGTGACACTTTGCCAGGGTCCCACCTGGATGCTCCGACATCCATGTTC ACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCAGTGCT GTGTGTGACACTTTGCCAGGGTCCGTCCTACCTAGATGCTCCGACATCCA TGTTCACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCTGGATTCA GTGCTGTGTGTGACACTTTGCCAGGGTCCGTCCTACCTAGATCCTCCGAC ATCCATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGCCCCTGCGTCTGG ATTCAGTGCTGTGTGTGACACTTTGCCAGGGTCCCACCTGGATGCTCCGA CATCCATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGCCCCTGCGTCTG GATTCAGTGCTGTGTGTGACACTTTGCCAGGGTCCCACCTGGATGCTCCG ACATCCATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTCT GGATTCAGTGCTGTGTGTGACACTTTGCCAGGGTCCCACCTGGATGCTCC GACATCCATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGTCCCTGCGTC TGGATTCAGTGCTGTGTGTGACACTTTGCCAGGGTCCGTCCTACCTAGAT GCTCCGACATCCATGTTCACTGGGCGTCTTGCAGTTTATCTGGGGTCCCT GCGTCTGGATTCAGTGCTGTGTGTGACACTTTGCCAGGGTCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
AMER2_chr13_25156679_25177288	25159099	T T	TATATATA others(813): Show TATATATATAATATATATTACATGTATATATTATATATTATATGTTTATA TATTATATGTATATATGTATATATTATATATTATATATTATATATTATAT ATTATATATATTATATACATATAATATATATTCTCATATATATTATATAT ACTCATATATATAATATATATTCTCATATATATATATTATATATTCTCAT ATATATAATATATATATTCTCATATATAATATATATTCTCATATATATAA TATATACTCATATATTATATATATTCTCATATATTATATATATACTCATA TATAATGTATATATTCTAATATATAATATATATTTTCTCATTTATATAAT ATATATTCTCATATATAATATATATTCTCATATATGACATATTATATATA TTCTCATATATATTATATATTCTCATATATAATATATATTCTCATATATA ATATATATTCTCATATAATATATTATATATTCTCATATAATATATTATAT ATGCTCATATAATATATTATATATGCTCATATATAATATATTATATATGC TCATATATAATATATTATATATGCTCATATATAATATATTATATATGCTC ATATATAATATATTATATATGCTCATATATAATATATTATATATGCTCAT ATATAATATATTATATATGCTCATATAATATATTATATATGCTCATATAT AATATATTATGTATGCTCATATATAATATATTATGTATGCTCATATATAA TATATTATGTATGCTCATATATAATATATTATGTATGAGCATATATAATA TATTATGTATGAGCATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02135.hp2 HG02155.hp2 HG02135.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0000 a0001c0001t0018g0000	2	416	0.0048	820	c.10 others(833): Show c.10504_*10505insTATATATGCTCATACATAATATATTATATATG CTCATACATAATATATTATATATGAGCATACATAATATATTATATATGAG CATACATAATATATTATATATGAGCATACATAATATATTATATATGAGCA TATATAATATATTATATGAGCATATATAATATATTATATATGAGCATATA TAATATATTATATATGAGCATATATAATATATTATATATGAGCATATATA ATATATTATATATGAGCATATATAATATATTATATATGAGCATATATAAT ATATTATATATGAGCATATATAATATATTATATGAGCATATATAATATAT TATATGAGAATATATAATATATTATATGAGAATATATATTATATATGAGA ATATATATTATATATGAGAATATATAATATATATGAGAATATATATAATA TGTCATATATGAGAATATATATTATATATGAGAATATATATTATATAAAT GAGAAAATATATATTATATATTAGAATATATACATTATATATGAGTATAT ATATAATATATGAGAATATATATAATATATGAGTATATATTATATATATG AGAATATATATTATATATGAGAATATATATATTATATATATGAGAATATA TAATATATATATATGAGAATATATATTATATATATGAGTATATATAATAT ATATGAGAATATATATTATATGTATATAATATATATAATATATAATATAT AATATATAATATATAATATATACATATATACATATAATATATAAACATAT AATATATAATATATACATGTAATATATATTATATATAT	AMER2	ENSG00000165566.13	transcript	ENST00000515384.2	protein_coding		2579		chr13	TogoVar
ANO3_chr11_26327130_26668289	26396991	C C	CAGACTTC others(813): Show CAGACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAA TGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAG ATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACA ACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGG TGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCT CAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGG GTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACA CGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACC CAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACA CCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTA GGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGA ACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAA TGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGG TGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCT AGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATA TGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAA TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02922.hp1 HG03130.hp1 others(1): Show HG02572.hp2 HG02922.hp1 HG03130.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0008 a0001c0001 a0001c0007 a0001c0008	a0001c0001t0001 a0001c0001t0018 a0001c0007t0003 others(1): Show a0001c0001t0001 a0001c0001t0018 a0001c0007t0003 a0001c0008t0009	a0001c0001t0001g0143 a0001c0001t0018g0099 a0001c0007t0003g0128 others(1): Show a0001c0001t0001g0143 a0001c0001t0018g0099 a0001c0007t0003g0128 a0001c0008t0009g0152	4	190	0.0211	820	c.47- others(837): Show c.47-44924_47-44923insCTTCTCAAAAGAAGACATTTATGCAGCC AAAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCA AATCAAAACCACTATGAGATATCATCTCACACCAGTTAGAATGGCAATCA TTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGA ACACTTTTACACTGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAA GTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACC CAGCCATCCCATTACTGGGTATATACCCAAATGAGTATAAATCATGCTGC TATAAAGACACATGCACACGTATGTTTATTGCGGCACTATTCACAATAGC AAAGACTTGGAACCAACCCAAATGTCCAACAATGATAGACTGGATTAAGA AAATGTGGCACATATACACCATGGAATACTATGCAGCCATAAAAAATGAT GAGTTCATATCCTTTGTAGGGACATGGATGAAATTGGAAACCATCATTCT CAGTAAACTATCGCAAGAACAAAAAACCAAACACCGCATATTCTCACTCA TAGGTGGGAATTGAACAATGAGATCACATGGACACAGGAAGGGGAATATC ACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTG GGAGATATACCTAATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGC ATGGCACATGTATACATATGTAACTAACCTGCACAATGTGCACATGTACC CTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAAAAAAAGA	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
BIRC7_chr20_63230905_63245495	63235393	T T	TGGGGGAA others(813): Show TGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAAGAGGGGGGAGGGG GAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGGGGGAGGGGGAA GGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTGGGGAAGAGGAGGA GGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGG GAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGA GGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGG GGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAGGAGG AAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGA AGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGA GGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGG AAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGTGGGAGGAGGAAGG GGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAA GAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAG AAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGAGGAAGGGGAAGAA GGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGGAAGGGGAAGAAGG AGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAAGGGGAAGAAGGAG GGGGAAGTGGGGAAGGGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	300	0.0033	820	c.-70 others(829): Show c.-704_-703insGGGGGAAAGTGAGGGGAGGTGGGGGAAGGAGGGAAA GAGGGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAA GGGGGAGGGGGAAGGGGAGGAGGAAGGGGAGGAAGGAGGAGGAGGAAGTG GGGAAGAGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGG AGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAG GGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGG GGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGG AAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAG GAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGAAGGGGGAGGAGGAAGGG GGAAGGGGGAGGAGGAAGGGGGGAAGGGGGAGGAGGAAGGGGGGAAGGGG GAGCGGGAGGAGGAAGGGGAAGACGGAGGAGGAGGAAGGGGAAGGGGAGT GGGAGGAGGAAGGGGAAGAAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGA GGAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGGAAGGGGGAGCGGGAG GAGGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGCGGGAGGA GGAAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGCAGTGGGAGGAGG AAGGGGAAGAAGGAGGAGGAGGAAGGGGGAAGGGGGAGTGGGAGGAGGAA GGGGAAGAAGGAGGGGGAAGTGGGGAAGGGGAAG	BIRC7	ENSG00000101197.13	transcript	ENST00000217169.8	protein_coding		511		chr20	TogoVar
C4orf50_chr4_5954375_6023431	6004583	G G	GGTGATGA others(813): Show GGTGATGATAGTGATGATGGTGATGATGGTGATGGTGATGATGGTGATGG TGAGATGGTTGTATGATGGTGATGATGGTGACGGTGATGATGTGATGGTG ATGATGGTGATGTTGGTGAGGTGATGATGGTGATGGTGATGATGGTGATG ATGGTGATGATGGTGATGATGGTGATGATGGTGATGGTGATGATAGTGAT GATGGTGATGATGGTGATGGTGATGTTGGTGATGGTGATGATGTGATGGT GATGATGATGGTGATGGGTGATGATGGTGATGGTGATGATGGTGATGGTG GTGATGATGATGGTGATGTGATTGGTAATGGTGATGATGGTGATGGTGTT GATGATGTGGTGGTGATGGTGATGCTGATGATGGTGATGTGGTGATGGTG ATGATAGTGATGATGTGTGATGGTGATTGGTGATGATGGTGATGATATTG ATGGTGATGATATTGTTGGTGATGATGGTGATGGAGATGATGTGATGGTG ATGATGGTGATGTTATGATGGTGATGGTGATGATGGTTGATGATGGTGAT GATGGTGATGTTGGTGATTGGTGATGATGTGATGGTGATGATAGTGATGA TGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTGATGATGGTG ATGATGGTGATGGTGATGTGGGTGATGATAGTGATGATGGTGATGATGGT GATTGTGATGATGGTGATGGTGATGATGACGGTGATGGTGATGATGGTGA TGGTGATGATGGTGATGGTGGGTGATGGAGATGTTGGTGATGATGGTGAT GGTGGTGATGATGTGATGGTA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0315 a0002c0002t0000g0315	1	346	0.0029	820	c.963 others(837): Show c.963+3412_963+3413insTACCATCACATCATCACCACCATCACCA TCATCACCAACATCTCCATCACCCACCATCACCATCATCACCATCACCAT CATCACCATCACCGTCATCATCACCATCACCATCATCACAATCACCATCA TCACCATCATCACTATCATCACCCACATCACCATCACCATCATCACCATC ATCACCATCACCATCACCATCATCACCATCACCATCATCACCATCATCAC TATCATCACCATCACATCATCACCAATCACCAACATCACCATCATCACCA TCATCAACCATCATCACCATCACCATCATAACATCACCATCATCACCATC ACATCATCTCCATCACCATCATCACCAACAATATCATCACCATCAATATC ATCACCATCATCACCAATCACCATCACACATCATCACTATCATCACCATC ACCACATCACCATCATCAGCATCACCATCACCACCACATCATCAACACCA TCACCATCATCACCATTACCAATCACATCACCATCATCATCACCACCATC ACCATCATCACCATCACCATCATCACCCATCACCATCATCATCACCATCA CATCATCACCATCACCAACATCACCATCACCATCATCACCATCATCACTA TCATCACCATCACCATCATCACCATCATCACCATCATCACCATCATCACC ATCATCACCATCACCATCATCACCTCACCAACATCACCATCATCACCATC ACATCATCACCGTCACCATCATCACCATCATACAACCATCTCACCATCAC CATCATCACCATCACCATCATCACCATCATCACTATCATCAC	C4orf50	ENSG00000181215.17	transcript	ENST00000711657.1	protein_coding	3/11			chr4	TogoVar
CACNA1C_chr12_2047987_2702950	2539214	C C	CTTCATAA others(813): Show CTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTC ATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATG CAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGG TTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGAC TTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGG GTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAA AGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGG CAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGTTTTA AGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAA GGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTT CATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGAT GCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGG GTTTAAGGACTTAAGGAGGGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0010 a0001c0020t0002g0010	1	104	0.0096	820	c.139 others(841): Show c.1391-10361_1391-10360insTTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCA GGTTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAG GACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGG AGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCA TAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGC AGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGT TTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACT TAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGG CTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2539706	T T	TTTCATAA others(813): Show TTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTC ATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATG CAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGG TTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGAC TTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGG GCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAA AGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGG CAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTA AGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAA GGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTT CATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGAT GCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGG GTTTAAGGACTTAAGGAGGGC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0044 a0001c0003t0044	a0001c0003t0044g0053 a0001c0003t0044g0053	1	104	0.0096	820	c.139 others(841): Show c.1391-10197_1391-10196insTTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCA GGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAG GACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGG AGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCA TAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGC AGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGT TTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACT TAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGG CTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CALN1_chr7_71774491_72417338	72209189	T T	TTTCCTTC others(813): Show TTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCC TCCTTCCCTCCTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTC CTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCT TCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTC CCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTC CTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTC CTTCCCTCCGTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTC CCTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCC TCCTTCCCTCCTTCCCTCCTTCCTTCCTTCCTTCCCTCCTTCCTTCCCTC CTTCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCT TCCTTCCCTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCCTC CTTCCCTCCTTCCTTCCCTCC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0032 a0001c0001t0016g0032	1	142	0.0070	820	c.244 others(839): Show c.244+69496_244+69497insGGAGGGAAGGAAGGAGGGAAGGAGGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGG AAGGAAGGAGGGAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAA GGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGG AGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAGGG AAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAG GGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAG GGAAGGAAGGAGGGAAGGAAGGAAGGAAGGAGGGAAGGAGGGAAGGAAGG AGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAGGGAAGGAGGGAA GGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGG AAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAG GGAAGGAAGGAGGGAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGG AAGGAAGGAGGGAAGGAGGGAAGGACGGAGGGAAGGAGGGAAGGAGGGAA GGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CCDC88C_chr14_91266323_91422820	91293507	G G	GGTCCACC others(813): Show GGTCCACCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACC CGCCACAGCTCACTTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATC CTCACCCGCCACAGCTCACCTTCCCATCCTCACCCGCCAGAGCTCACCTT CCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCT CACCTTCCCATCCTCACGTGCCACAGCTCACCTTCCCATCCTCACGTGCC ACAGCTCACCTTCCCATCCTCACCCACCACAGCTCACCTTCCTATCCTCA CCCGCCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCA TCCTCACGTGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCACC TTCCCATCCTCACCCACCACAGCTCACCTTCCCATCCTCACCCGCCACAG CTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACGTG CCACAGCTCACCTTCCCATCCTCACCCGCCACAGCTCACCTTCCCATCCT CACCCGCCACAGCTCACCTTCCCATTCTCACCCGCCACAGCTCACCTTCC TATCCTCACCCGCCACAGCTCACCTTCCCATCCTCACGTGCCACAGCTCA CCTTCCCATCCTCACCTGCCACAGCTCACCTTCCCATCCTCACCTGCCAC GGCCCACCTTCCTGTCCCCTCACCTGCCACAGCCCATCTTCCTGCCCCCT CGCCTGCCACAGCCCACCTTCCTGCCCCCTCGCCTGCCACAGCCCACCTT CCTGTCCCCTCACCTGCCACA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03453.hp1 others(1): Show HG02895.hp1 HG02897.hp2 HG03453.hp1 NA20300.hp1	a0001 a0001	a0001c0006 a0001c0031 a0001c0058 a0001c0006 a0001c0031 a0001c0058	a0001c0006t0001 a0001c0031t0001 a0001c0058t0001 a0001c0006t0001 a0001c0031t0001 a0001c0058t0001	a0001c0006t0001g0110 a0001c0006t0001g0111 a0001c0031t0001g0007 others(1): Show a0001c0006t0001g0110 a0001c0006t0001g0111 a0001c0031t0001g0007 a0001c0058t0001g0252	4	284	0.0141	820	c.411 others(837): Show c.4112+665_4112+666insTGTGGCAGGTGAGGGGACAGGAAGGTGG GCTGTGGCAGGCGAGGGGGCAGGAAGGTGGGCTGTGGCAGGCGAGGGGGC AGGAAGATGGGCTGTGGCAGGTGAGGGGACAGGAAGGTGGGCCGTGGCAG GTGAGGATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGAGCTG TGGCACGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATAGGAAGGT GAGCTGTGGCGGGTGAGAATGGGAAGGTGAGCTGTGGCGGGTGAGGATGG GAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGA GGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGC GGGTGAGGATGGGAAGGTGAGCTGTGGTGGGTGAGGATGGGAAGGTGAGC TGTGGCACGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAG GTGAGCTGTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGAT AGGAAGGTGAGCTGTGGTGGGTGAGGATGGGAAGGTGAGCTGTGGCACGT GAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGAGCTGTG GCGGGTGAGGATGGGAAGGTGAGCTGTGGCACGTGAGGATGGGAAGGTGA GCTCTGGCGGGTGAGGATGGGAAGGTGAGCTGTGGCGGGTGAGGATGGGA AGGTGAGCTGTGGCACGTGAGGATGGGAAAGTGAGCTGTGGCGGGTGAGG ATGGGAAGGTGAGCTGTGGCAGGTGAGGATGGGAAGGTGGAC	CCDC88C	ENSG00000015133.20	transcript	ENST00000389857.11	protein_coding	23/29			chr14	TogoVar
CEP126_chr11_101910010_102006062	101925704	G G	GGTGCAGT others(813): Show GGTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAG CGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGGGAGGGAGGAAGGG GCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCAAAGAAATTGAAAT AAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCGTTATAAAACACTA TAATATAGGCACATAAAAGCTCAGATGAAGAGACAAAATTCTATGTAGTT AACTGGCAGAATAAGAGAAAAACACCACAAAATGGGGAAAATTGTGCAGT GAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGACAAGTACTTTGGA AGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAAATATCCTAGAGGC AGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGTGGACATGAAGTGT GAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAGTTTGGAGTTTCTC ATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAGAAGGAATTATACG TTAAACAATAAGTCATATTTATTGAACCTCCATAGATATATATGTATGCT ATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGATATAAATTTAAAA CTATCAATATCAATAGGTCTAAATATTCATGGGCAATACATCCATACTAC ATATATATATATATATATATATATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTTTGAGATGAAGTCT CGCTCTGTCGCCCATGCTGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0010 a0003c0004t0010	a0003c0004t0010g0308 a0003c0004t0010g0308	1	336	0.0030	820	c.248 others(837): Show c.248+2952_248+2953insAGCCAAGATCGCGCCACTGCACTCCAGC CTGGGCAACAGAGCGAGACAAAAAAAAAAAGAGAGAGAGAGGGAGGGAGG GAGGGAGGAAGGGGCGGGCAATAATGTGATTAATGCAACTTCTTAAGGCA AAGAAATTGAAATAAATTTTAAGAAGAGCTCAACGGGAACATTCAGATCG TTATAAAACACTATAATATAGGCACATAAAAGCTCAGATGAAGAGACAAA ATTCTATGTAGTTAACTGGCAGAATAAGAGAAAAACACCACAAAATGGGG AAAATTGTGCAGTGAAGAAGAGGAAAGAATACCAAATGACAGATGAGGGA CAAGTACTTTGGAAGGGTCACTAAAATCTACGATAAAAAAGATTCCTTAA ATATCCTAGAGGCAGAAAAAAGTACTTAGAGGATCAGTGAAATACTTGGT GGACATGAAGTGTGAGGTAGCTACATTATCTGTTTGTGAGAATGATGGAG TTTGGAGTTTCTCATAAAAGCATTAAAAAAGTACTCCTAGAGTAATTAAG AAGGAATTATACGTTAAACAATAAGTCATATTTATTGAACCTCCATAGAT ATATATGTATGCTATAAGCCAAAAAAAAAACAGATTCAAATAATTTTAGA TATAAATTTAAAACTATCAATATCAATAGGTCTAAATATTCATGGGCAAT ACATCCATACTACATATATATATATATATATATATATATATATATATATA TATATATATATATATTTTTTTTTTTTTTTTTTTTTTGGTTTTTTGTTTTT TGAGATGAAGTCTCGCTCTGTCGCCCATGCTGGAGTGCAGTG	CEP126	ENSG00000110318.15	transcript	ENST00000263468.13	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr11	TogoVar

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