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
PHF21B_chr22_44876162_45015005	44984159	C C	CACCACCA others(713): Show CACCACCATCATCACCATCACCACCACCATCACCACCACCACCATCATCA TCACCATCATCACAACCACCACCATCGTCACCACCATAACCAACACCATC ACAACCACCACCATCACCATAACCATCACCACCATCATCACCATCACCAC CACCATCATCACCATCACCACCACCATCACCACCATCACCACCATCATCA CCACCACCACCACCATCACCATCACCATCACCACCACCATCACTACCATA ACCACCATCACCATCATCACCATCATTACCACCATCATCATCACCATCAC CACCACCATCATCACCACCATCATCACCATAACCACCACCACCACCATCA CCATAACCATCACCACCATCATCACCATCACCACTACCGTCACCATCACC ACCACCATCACTACCATCACCATCACCACCACCATTATCACCATCACCAC CATCATCACCACCATCACCACCATCATCACCATCACCACCACCATCACGA TTATCACCATCACCGCCATCATTACCACCATCATCACCATCACCACCACC ATCACCACCGCCACCATCATCATCACCACCACCACCATCACCAGCGCCAC CACCATCACCATCACCACCATCACCATCGCCACCATCACCATTATCATCA CCATTGTCACCATTATCACCATCATCACCATTATCACCATTATCCTCACC ATCACCACCATCACCATCACA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0258 a0001c0002t0005g0259 a0001c0002t0005g0258 a0001c0002t0005g0259	2	300	0.0067	720	c.120 others(739): Show c.120+24385_120+24386insTGTGATGGTGATGGTGGTGATGGTGA GGATAATGGTGATAATGGTGATGATGGTGATAATGGTGACAATGGTGATG ATAATGGTGATGGTGGCGATGGTGATGGTGGTGATGGTGATGGTGGTGGC GCTGGTGATGGTGGTGGTGGTGATGATGATGGTGGCGGTGGTGATGGTGG TGGTGATGGTGATGATGGTGGTAATGATGGCGGTGATGGTGATAATCGTG ATGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGGTGATGATGGTGGT GATGGTGATAATGGTGGTGGTGATGGTGATGGTAGTGATGGTGGTGGTGA TGGTGACGGTAGTGGTGATGGTGATGATGGTGGTGATGGTTATGGTGATG GTGGTGGTGGTGGTTATGGTGATGATGGTGGTGATGATGGTGGTGGTGAT GGTGATGATGATGGTGGTAATGATGGTGATGATGGTGATGGTGGTTATGG TAGTGATGGTGGTGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGATG ATGGTGGTGATGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGTGGT GATGGTGATGATGGTGGTGATGGTTATGGTGATGGTGGTGGTTGTGATGG TGTTGGTTATGGTGGTGACGATGGTGGTGGTTGTGATGATGGTGATGATG ATGGTGGTGGTGGTGATGGTGGTGGTGATGGTGATGATGGTGGT	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	2/12			chr22	TogoVar
PTDSS2_chr11_445279_496399	459217	C C	CACACTCC others(713): Show CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTAGGACCTGGGTTA GACGTGAGGACACACTCTGGTGGATGTAGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGAT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	346	0.0029	720	c.183 others(735): Show c.183-834_183-833insCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTC TGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGATACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	459217	C C	CACACTCC others(713): Show CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGATACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGATACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTAGG ACCTGGGTTAGACGTGAGGACACACTCTGGTGGATGTAGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA TACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTAGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGATACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCTGG TGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	346	0.0029	720	c.183 others(735): Show c.183-891_183-890insTACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGATACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTAGGACCTGGGTTA GACGTGAGGACACACTCTGGTGGATGTAGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGATACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTAGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA TACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTAGGACCTGGGTTAGACGTGAGGACACACTCTGGTGGATGTAGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGATACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTDSS2_chr11_445279_496399	459264	C C	CGGTGGAT others(713): Show CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT AGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT AGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0305 a0001c0001t0002g0305	1	346	0.0029	720	c.183 others(735): Show c.183-874_183-873insAGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTAGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGG TTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGA GGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTC CGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCTGGTGGATGT CGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGT	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PWWP2B_chr10_132392200_132422859	132392564	G G	GTGATGAT others(713): Show GTGATGATGGTGATGGTGATGATGGTGATGGTGGTGATGATGGTGATGGT GATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGAT GGGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGATGGTGGTGGTGG TGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTG ATGGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATG GGGGTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGAT AATGGTGATGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG GTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGT GATGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGATGGTGGTGG TAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATGG TGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTG ATGGTGATGGTGGTGGTGGTGATAATGGTGATGGTGATGGTGGTGGTGGT AATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTAG TGGTGATGGGGGTGGTGGTAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	374	0.0027	720	c.-46 others(731): Show c.-4663_-4662insTGATGATGGTGATGGTGATGATGGTGATGGTGGT GATGATGGTGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGT GATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGA TGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTG ATGGTGATGATGGTGATGGTGATGATGGTGATGTGATAATGGTGATGGTG ATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATGGTGATGGTGAT GGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGGTAATGGTGATGG TGATGATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATG ATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGT GATGGTGATGATGGTGATGATGATGGTGGTGGTGGTGATAATGGTGATGG TGGTGATGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTA ATGGTGATGATGGTGATGGTGATGGTGGTGGTGGTGATAATGGTGATGGT GATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATGG TGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4635		chr10	TogoVar
RAB20_chr13_110518066_110566722	110530184	A A	ACAGACAC others(713): Show ACAGACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGC AGACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAG ACACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGAC ACAGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACAC AGGGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAG GGCCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGG CCCCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCC CCGGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCC GGGGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGG GGAGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGG AGGCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAG GCAGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAGGC AGGTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAGGCAG GTCCCACCCGCCCCACCTCTACGCAGACACAGGGCCCCGGGGAGGCAGGT CCCACCCGCCCCACCTCTACG	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0028 a0001c0003t0001g0028	1	426	0.0024	720	c.173 others(737): Show c.173-5988_173-5987insCGTAGAGGTGGGGCGGGTGGGACCTGCC TCCCCGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTC CCCGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCC CGGGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCG GGGCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGG GCCCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGC CCTGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCC TGTGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTG TGTCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTG TCTGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTC TGCGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTG CGTAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTGCG TAGAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTGCGTA GAGGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTGCGTAGA GGTGGGGCGGGTGGGACCTGCCTCCCCGGGGCCCTGTGTCTG	RAB20	ENSG00000139832.5	transcript	ENST00000267328.5	protein_coding	1/1			chr13	TogoVar
RASA3_chr13_113972783_114137623	114080987	T T	TCGGCAGA others(713): Show TCGGCAGAGGGCCGTACACCTAGAACACCAAGAGTGCCCCACGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACC TAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCA ATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCC ACGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCACGGCAGAGGGCCGTCCACC TAGAACACCAAGAGTGCCCCACGGCAGAGGGCCGTCCACCTAGAACACCA AGAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCC ACGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACC TAGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCA ATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCC ACGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCACGGCAGAGGGCCGTCCACC TAGAACACCAAGAGTGCCCCA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0018 a0001c0001t0005g0018	1	67	0.0149	720	c.56- others(735): Show c.56-7151_56-7150insTGGGGCACTCTTGGTGTTCTAGGTGGACGG CCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCG AGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGTGGGGCACTC TTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCT AGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACGG CCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCG AGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGTGGGGCACTC TTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCT AGGTGGACGGCCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGGACGG CCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCG AGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGTGGGGCACTC TTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCT AGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACGG CCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCG TGGGGCACTCTTGGTGTTCTAGGTGTACGGCCCTCTGCCG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RECQL4_chr8_144506288_144522833	144513800	T T	TGAGGAGG others(713): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGG CGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGG TCGGCGTGGGCGGTGGGGAGA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0232 a0007c0014t0001g0232	1	412	0.0024	720	c.205 others(735): Show c.2059-89_2059-88insTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTC ACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCG ACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACC GCCCACGCCGACCCCTCCTCACTCCCCACCGCCCAGGCCGACCCCTCCTC ACTCCCCACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCCG ACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RIMBP2_chr12_130391133_130721299	130646118	A A	ACCACTTC others(713): Show ACCACTTCCCTCTCCACCTGCCTCACCACCTCCCTCTCCACCTCCCTCAC CACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTGCCTCTCCA CCTCCCTCTCCACCTCCCTCACCACCTCCCTCATCACCTCCCTCTCCACC TCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCGCCACCTC CCTCACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCACCACCTCCC TCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTC ACCACCTGCCTCTCCACCTCCCTCTCCACCTCCCTCACCACCTCCCTCAC CACCTCCCTCACCACCTGCCTCTCCACCTCCCTCTCCACCTCCCTCACCA CCTCCCTCACCACCTCCCTCTCCACCTCCCTCACCACCTGCCTCACCACC TCCCTCTCCACCTCCCTCACCACCTCCCTCACCACCTCCCTCTCCACCTC CCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCCTCACCACCTCCC TCACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCTCCACCTCCCTC ACCACCTCCCTCACCACCTCCCTCACCACCTGCCTCTCCACCTCCCTCAC CACCTCCCTCACCACCTGCCTCACCACCTCCCTCTCCACCTCCCTCACCA CCTCCCTCACCACCTGCCTCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0012 a0003c0012	a0003c0012t0002 a0003c0012t0002	a0003c0012t0002g0178 a0003c0012t0002g0178	1	180	0.0056	720	c.-35 others(741): Show c.-351-17663_-351-17662insAGAGGCAGGTGGTGAGGGAGGTGG TGAGGGAGGTGGAGAGGGAGGTGGTGAGGCAGGTGGTGAGGGAGGTGGTG AGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAG GGAGGTGGAGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGTGAGGG AGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAG GTGGAGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGT GGTGAGGCAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGTGAGGGAGGTGG TGAGGGAGGTGGAGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGTG AGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGGAGAGGCAGGTGGTGAG GGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGG AGGTGGTGAGGGAGGTGGAGAGGCAGGTGGTGAGGGAGGTGGTGAGGGAG GTGGCGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGT GGAGAGGGAGGTGATGAGGGAGGTGGTGAGGGAGGTGGAGAGGGAGGTGG AGAGGCAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTGAGGGAGGTGGTG AGGGAGGTGGAGAGGGAGGTGGTGAGGCAGGTGGAGAGGGAAGTGG	RIMBP2	ENSG00000060709.17	transcript	ENST00000690449.1	protein_coding	1/22			chr12	TogoVar
RPEL1_chr10_103240887_103253016	103251100	A A	ACCATCAC others(713): Show ACCATCACCACCACCACCATCACCACCACCACCACCATCACCACCTCCAC CACCATCACCACCACCAACACCACCACCACCATCACCACCTCCACCACCA TCACCACCTCCACCACCACCATCACCACCTCCACCACAACCACCATCACC ACCACCACCATCACCACCTCCACCACCATCACCACCTCCACCACCATCAC CACCTCCACCATCACCACCACCACCACTATGACCACCTCCACCACCACCA CCACCACCACCATCACCACCTCCACCACCATCATCACCTCCACCACAACC ACCATCACCACCACCACCATCACCACCTGCACCACCATCACCACCTCCAC CACCATCACCACCACCTCCACCACTATCACCACCTCCACCACCACCACCA CCACCATCACCACCTCCACCACCATCACCACCTCCACCACCTCCACCACC ATCACCACCTCCACCACTACCACCACCACCACCAACACCACCACCATCAC CACCACCACCATCACCACCACCACCATCATCACCACCACCACCACCACCA CCATCACCACCTCCACCACCATCACCACCTCCACCACCATCACCACCTCC ACTACCATCACCACCTCCACCACCACCACCATCACCATCACCACCACCAC CACCTCCACCACCATCATCACCACCACCACCATCACCACCACCACCATCA CCACCACCACCACCATCACCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	375	0.0027	720	c.44 others(731): Show c.4417_*4418insCCATCACCACCACCACCATCACCACCACCACCAC CATCACCACCTCCACCACCATCACCACCACCAACACCACCACCACCATCA CCACCTCCACCACCATCACCACCTCCACCACCACCATCACCACCTCCACC ACAACCACCATCACCACCACCACCATCACCACCTCCACCACCATCACCAC CTCCACCACCATCACCACCTCCACCATCACCACCACCACCACTATGACCA CCTCCACCACCACCACCACCACCACCATCACCACCTCCACCACCATCATC ACCTCCACCACAACCACCATCACCACCACCACCATCACCACCTGCACCAC CATCACCACCTCCACCACCATCACCACCACCTCCACCACTATCACCACCT CCACCACCACCACCACCACCATCACCACCTCCACCACCATCACCACCTCC ACCACCTCCACCACCATCACCACCTCCACCACTACCACCACCACCACCAA CACCACCACCATCACCACCACCACCATCACCACCACCACCATCATCACCA CCACCACCACCACCACCATCACCACCTCCACCACCATCACCACCTCCACC ACCATCACCACCTCCACTACCATCACCACCTCCACCACCACCACCATCAC CATCACCACCACCACCACCTCCACCACCATCATCACCACCACCACCATCA CCACCACCACCATCACCACCACCACCACCATCACCT	RPEL1	ENSG00000235376.5	transcript	ENST00000441178.2	protein_coding		3085		chr10	TogoVar
RPH3AL_chr17_207389_357807	220500	T T	TCAGCTCT others(713): Show TCAGCTCTGAGGCCTCCACTCACTGAGACAATAGGCCCAAGCACAACAGC TCTGAGGCCTCCACTCACTGAGACAACAAACCCAACAACAACAGCTCTGA GGCCTCCACTCACTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCT CCACTCACTGAGACAATAGACCCAAGCACAACAGCTCTGAGGCCTCCACT CACTGAGACAATAGGCCCAAGCACAACAGCTCTGAGGCCTCCACTCACTG AGACAATAGACCCAAGAACATCAGCTCTGAGTCCTCCACTCACTGAGACA ATAGACCCAAGCACATCAGCTCTCAGGCCTCCACTCGGTGAGACAATAGG CCCAAGCACAACAGCTCTGAGGCCTCCACTCGGTGAGACAATAGACCCAA GCACATCAGCTCTGAGGCCTCCACTCGGTGAGACAATAGACCCAAGCACA TCAGCTCTCAGGCCTCCACTCGGTGAGACAATAGACCCAAGCACATCAGC TCTCAGGCCTCCACTCACTGAGACAATAGACCCAAGAACAACAGCTCTGA GGCCTCCACTCACTGAGACAATAGGCCCAAGCACAACAGCTCTGAGGCCT CCACTCACTGAGACAACAGACCCAAGAACAACAGCTCTGAGGCCTCCACT CACTGAGACAATAGGCCCAAGCACAACAGCTCTGAGGCCTCCACTCACTG AGACAACAGACCCAAGAACAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 NA18999.hp1 NA19005.hp1 others(1): Show HG00323.hp1 NA18999.hp1 NA19005.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0019 a0001c0001t0024 a0001c0001t0009 a0001c0001t0019 a0001c0001t0024	a0001c0001t0009g0066 a0001c0001t0019g0011 a0001c0001t0019g0012 others(1): Show a0001c0001t0009g0066 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0024g0083	4	133	0.0301	720	c.614 others(735): Show c.614-765_614-764insTTGTTCTTGGGTCTGTTGTCTCAGTGAGTG GAGGCCTCAGAGCTGTTGTGCTTGGGCCTATTGTCTCAGTGAGTGGAGGC CTCAGAGCTGTTGTTCTTGGGTCTGTTGTCTCAGTGAGTGGAGGCCTCAG AGCTGTTGTGCTTGGGCCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCTG TTGTTCTTGGGTCTATTGTCTCAGTGAGTGGAGGCCTGAGAGCTGATGTG CTTGGGTCTATTGTCTCACCGAGTGGAGGCCTGAGAGCTGATGTGCTTGG GTCTATTGTCTCACCGAGTGGAGGCCTCAGAGCTGATGTGCTTGGGTCTA TTGTCTCACCGAGTGGAGGCCTCAGAGCTGTTGTGCTTGGGCCTATTGTC TCACCGAGTGGAGGCCTGAGAGCTGATGTGCTTGGGTCTATTGTCTCAGT GAGTGGAGGACTCAGAGCTGATGTTCTTGGGTCTATTGTCTCAGTGAGTG GAGGCCTCAGAGCTGTTGTGCTTGGGCCTATTGTCTCAGTGAGTGGAGGC CTCAGAGCTGTTGTGCTTGGGTCTATTGTCTCAGTGAGTGGAGGCCTCAG AGCTGTTGTGCTTGGGTCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCTG TTGTTGTTGGGTTTGTTGTCTCAGTGAGTGGAGGCCTCAGAGCTGTTGTG CTTGGGCCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	220788	C C	CTCACTGA others(713): Show CTCACTGAGACAATAGACCCAAGAACATCAGCTCTGAGTCCTCCACTCAC TGAGACAATAGACCCAAGCACATCAGCTCTCAGGCCTCCACTCGGTGAGA CAATAGGCCCAAGCACAACAGCTCTGAGGCCTCCACTCGGTGAGACAATA GACCCAAGCACATCAGCTCTGAGGCCTCCACTCGGTGAGACAATAGACCC AAGCACATCAGCTCTCAGGCCTCCACTCGGTGAGACAATAGACCCAAGCA CATCAGCTCTCAGGCCTCCACTCACTGAGACAATAGACCCAAGAACAACA GCTCTGAGGCCTCCACTCACTGAGACAATAGGCCCAAGCACAACAGCTCT GAGGCCTCCACTCACTGAGACAACAGACCCAAGAACAACAGCTCTGAGGC CTCCACTCACTGAGACAATAGGCCCAAGCACAACAGCTCTGAGGCCTCCA CTCACTGAGACAACAGACCCAAGAACAACAGCTCTGAGGCCTCCACTCAC TGAGACAATAGGCCCAAGCACATCAGCTCTGAGTCCTCCACTCACTGAGA CAATAGACCCAAGCACAACAGCTCTGAGGTCTCCACTCACTGAGACAATA GACCCAAGCACATCAGCTCTGAGGCCTCCACTCGGTGAGACAATAGACCC AAGCACAACAGCTCTGAGGGCTCCACTCACTGAGACAATAGACCCAAGTG CATCAGCTCTGAGGGCTCCAG	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 NA18940.hp1 others(2): Show HG00408.hp1 HG00544.hp1 NA18940.hp1 NA18983.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0004t0001	a0001c0001t0001g0110 a0001c0001t0002g0049 a0001c0001t0003g0081 others(2): Show a0001c0001t0001g0110 a0001c0001t0002g0049 a0001c0001t0003g0081 a0001c0001t0012g0005 a0001c0004t0001g0048	5	133	0.0376	720	c.614 others(737): Show c.614-1053_614-1052insCTGGAGCCCTCAGAGCTGATGCACTTGG GTCTATTGTCTCAGTGAGTGGAGCCCTCAGAGCTGTTGTGCTTGGGTCTA TTGTCTCACCGAGTGGAGGCCTCAGAGCTGATGTGCTTGGGTCTATTGTC TCAGTGAGTGGAGACCTCAGAGCTGTTGTGCTTGGGTCTATTGTCTCAGT GAGTGGAGGACTCAGAGCTGATGTGCTTGGGCCTATTGTCTCAGTGAGTG GAGGCCTCAGAGCTGTTGTTCTTGGGTCTGTTGTCTCAGTGAGTGGAGGC CTCAGAGCTGTTGTGCTTGGGCCTATTGTCTCAGTGAGTGGAGGCCTCAG AGCTGTTGTTCTTGGGTCTGTTGTCTCAGTGAGTGGAGGCCTCAGAGCTG TTGTGCTTGGGCCTATTGTCTCAGTGAGTGGAGGCCTCAGAGCTGTTGTT CTTGGGTCTATTGTCTCAGTGAGTGGAGGCCTGAGAGCTGATGTGCTTGG GTCTATTGTCTCACCGAGTGGAGGCCTGAGAGCTGATGTGCTTGGGTCTA TTGTCTCACCGAGTGGAGGCCTCAGAGCTGATGTGCTTGGGTCTATTGTC TCACCGAGTGGAGGCCTCAGAGCTGTTGTGCTTGGGCCTATTGTCTCACC GAGTGGAGGCCTGAGAGCTGATGTGCTTGGGTCTATTGTCTCAGTGAGTG GAGGACTCAGAGCTGATGTTCTTGGGTCTATTGTCTCAGTGA	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	340766	T T	TCCCACCC others(713): Show TCCCACCCAGGCCTCCCCACATCCACACTCACTGCCTCCCACCCAGGCCT CCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACAC TCACTGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCAC CCAGGCCTCCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCAC ATCCACACTCACTGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTG CCCTGGGCCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGC CTCCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCAC ACTCACTGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCC ACCCAGGCCTCCCCACGTCCACACTCACTGCCCCCCTCCCAGGCCTCCCC ACATCCACACTCACTGCCCCCCTCCCAGGCCTCCCCACATCCACACTCAC TGCCTCCCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAG GCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCCCCACATCC ACACTCACTGCCCCGGGCTCAGGCCTCCCCACATCCACACTCACTGCCCC CCACCCAGGCCTCCCCACATCCACACTCACTGCCCCCCACCCAGGCCTCC CCACTTCCACACTCACTGCCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01884.hp2 HG02818.hp1 others(4): Show HG00544.hp1 HG01884.hp2 HG02818.hp1 NA18940.hp1 NA19004.hp2 NA19074.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0004t0001	a0001c0001t0002g0010 a0001c0001t0002g0049 a0001c0001t0002g0069 others(4): Show a0001c0001t0002g0010 a0001c0001t0002g0049 a0001c0001t0002g0069 a0001c0001t0006g0120 a0001c0001t0012g0005 a0001c0001t0012g0006 a0001c0004t0001g0048	7	133	0.0526	720	c.-21 others(739): Show c.-212-6833_-212-6832insGGGCAGTGAGTGTGGAAGTGGGGAGG CCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGGGGC AGTGAGTGTGGATGTGGGGAGGCCTGAGCCCGGGGCAGTGAGTGTGGATG TGGGGAGGCCTGGGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGG TGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAG TGTGGATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGATGTGGGGA GGCCTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAGGCCTGGGTGGGGG GCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGTGGA TGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAGGCCTG GGTGGGGGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGCCCAGGGCAGTG AGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGTGGATGTGGG GAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAGGCCTGGGTGGG GGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGGAGGCAGTGAGTGTG GATGTGGGGAGGCCTGGGAGGGGGGCAGTGAGTGTGGACGTGGGGAGGCC TGGGTGGGAGGCAGTGAGTGTGGATGTGGGGAGGCCTGGGTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	1/9			chr17	TogoVar
RPTOR_chr17_80539838_80971368	80743670	G G	GGCACAGC others(713): Show GGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGT TACGAGCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCC TGGTTACGAGCACAGCCCTGGTTACGAGCACAGCCCTGGCTACTAGCACA GCCCTGGCTACTAGCACTGTCCTGGCTACGAGCACAGCCCTGGCTACTAG CAGAGCCCTGGCTACTAGCACTCTCCTGGTTACTAGCAGAGCCCTGGTTA CTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTG GCTACTAGCACTGTCCTGGCTACGAGCACAGCCCTGGCTACTAGCAGAGC CCTGGCTACTAGCACTCTCCTGGTTACTAGCAGAGCCCTGGCTACTAGCA CAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACT AGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGT TACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCC TGGTTACTAGCACTATCCTGGCTACTAGTACAGCCCTGGCTACTAGCACT GTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAG CACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTA CTAGCACTGTCCTGGTTACGA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0035 a0001c0004t0035	a0001c0004t0035g0004 a0001c0004t0035g0004	1	196	0.0051	720	c.655 others(739): Show c.655-10292_655-10291insTTACGAGCACAGCCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGTTACGAGCACAGCCCTGGTTAC GAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG CTACGAGCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCACTCTC CTGGTTACTAGCAGAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACGA GCACAGCCCTGGCTACTAGCAGAGCCCTGGCTACTAGCACTCTCCTGGTT ACTAGCAGAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTG TCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTATCCTGGCTAC TAGTACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACGAGCAC AGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGG	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744331	C C	CTACTAGC others(713): Show CTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACTGTC CTGGTTACGAGCACTGTCCTGGTTACGAGCACTGTCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGA GCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCT ACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0048 a0001c0024t0002g0048	1	196	0.0051	720	c.655 others(737): Show c.655-9652_655-9651insAGCCCTGGTTACTAGCACTGTCCTGGTT ACGAGCACTGTCCTGGTTACGAGCACTGTCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACGAGCACAGCCCTGGTTACGAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGC ACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGCTAC TAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGG TTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTA GCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAG CCCTGGCTACTAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
RPTOR_chr17_80539838_80971368	80744487	C C	CCCTGGCT others(713): Show CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTGTCCTGG CTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCC CTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGA GCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAG CCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGG CTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACTGTC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTACTAGCAC TGTCCTGGTTACTAGCACTGT	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0082 a0004c0082	a0004c0082t0010 a0004c0082t0010	a0004c0082t0010g0052 a0004c0082t0010g0052	1	196	0.0051	720	c.655 others(737): Show c.655-9508_655-9507insAGCCCTGGCTACTAGCACAGCCCTGGTT ACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCT GGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACGAGCACTG TCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGC ACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTAC TAGCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGG TTACGAGCACTGTCCTGGCTACTAGCACAGCCCTGGTTACTAGCACAGCC CTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGTTACTAGCAC AGCCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGTTACTA GCACAGCCCTGGTTACTAGCACAGCCCTGGTTACTAGCACAGCCCTGGTT ACTAGCACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCT GGCTACTAGCACTGTCCTGGCTACTAGCACTGTCCTGGTTACTAGCACAG CCCTGGCTACTAGCACAGCCCTGGCTACTAGCACTGTCCTGGCTACTAGC ACTGTCCTGGTTACTAGCACAGCCCTGGCTACTAGCACAGCCCTGGCTAC TAGCACTGTCCTGGTTACTAGCACTGTCCTGGCTACTAGCAC	RPTOR	ENSG00000141564.16	transcript	ENST00000306801.8	protein_coding	5/33		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(713): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATATTCCATATATATATATATATTCCATATATATAT ATATTCCATATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATATTCCATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATTCCATATATATATATATTCCATATATATATATTCCATATATATATAT ATTCCATATATATATATTCCATATATATATATATTCCATATATATATATA TTCCATATATATATATTCCATATATATATATATTCCATATATATATATAT TCCATATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATTCCATATATATATATTCCATATA TATATATATTCCATATATATATATTCCATATATATATATATTCCATATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	NA19084.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	324	0.0031	720	c.115 others(737): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATGGAATATATATATATGGAATATATATATATGGAATATATATATATATG GAATATATATATATATGGAATATATATATATGGAATATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATGGAATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATGGAATATATATA TATATGGAATATATATATATGGAATATATATATATATGGAATATATATAT ATGGAATATATATATATATGGAATATATATATATGGAATATATATATATA TGGAATATATATATATGGAATATATATATATATATGGAATATATATATAT ATGGAATATATATATATATGGAATATATATATATATGGAATATATATATA TATGGAATATATATATATATATGGAATATATATATATATGGAATATATAT ATATATGGAATATATATATATATGGAATATATATATATATGGAATATATA TATATATGGAATATATATATATATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SERINC2_chr1_31408213_31439678	31431777	A A	ATAGGGTG others(713): Show ATAGGGTGGTTAGGGTGGTTAGGGTGGATAGGATGGTTAGGGTGGACAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGTT AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGAGA GGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGATG GTTAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGATAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGTTAGG GTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGA CAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGG TGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGAC AGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGT GGATAGGGTGGAGAGGGTGGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0104 a0001c0003t0001g0104	1	376	0.0027	720	c.101 others(739): Show c.1014-1182_1014-1181insTTAGGGTGGTTAGGGTGGATAGGATG GTTAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGG ATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGG GTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGG TGGATAGGGTGGAGAGGGTGGATAGGGTGGATAGGATGGTTAGGGTGGAT AGGGTGGATAGGATGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGAT GGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACA GGGTGGACAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGTTAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAG GATGGTTAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGG ACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGACAGGGTGGACAGG GTGGACAGGGTGGACAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGA CAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432111	T T	TAGGGTGG others(713): Show TAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGACAGGG TGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGT GGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGATAGGGTGGAGA GGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGACAGGGTGGATAGGGTG GTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTGGATAGGGTGGATAG GGTGGACAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGAGAGGGTGG ACAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGACAGGGTGGATAGG GTGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGGGTGGA GAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAT AGGGTGGACAGGGTGGATAGGGTGGTTAGAGTGGACAGGGTGGATAGGGT GGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATA GGGTGGTTAGAGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGTG GATAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0359 a0001c0005t0002g0359	1	376	0.0027	720	c.101 others(737): Show c.1014-849_1014-848insATAGGGTGGATAGGGTGGAGAGGGTGGA GAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGAGAGGGTGGAGAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGAT AGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGAGAGGGT GGATAGGGTGGAGAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGGACA GGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGACAGGGTG GATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGTTAG GGTGGAGAGGGTGGACAGGGTGGATAGGGTGGAGAGGGTGGTTAGGGTGG ACAGGGTGGATAGGGTGGTTAGGGTGGATAGGGTGGACAGGGTGGATAGG GTGGTTAGGGTGGAGAGGGTGGAGAGGGTGGATAGGGTGGATAGGGTGGA TAGGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGG TGGATAGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGTTAGAGTGGAC AGGGTGGATAGGGTGGACAGGGTGGATAGGGTGGATAGGGTGGATAGGGT GGACAGGGTGGATAGGGTGGTTAGAGTGGACAGGGTGGATAGGGTGGATA GGGTGGATAGGGTGGATAGGGTGGATAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(713): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02886.hp2 HG02809.hp1 HG02886.hp2	a0001 a0001	a0001c0032 a0001c0046 a0001c0032 a0001c0046	a0001c0032t0081 a0001c0046t0068 a0001c0032t0081 a0001c0046t0068	a0001c0032t0081g0247 a0001c0046t0068g0248 a0001c0032t0081g0247 a0001c0046t0068g0248	2	380	0.0053	720	c.-32 others(737): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SLC24A3_chr20_19207642_19727926	19663437	C C	CTCCTCCA others(713): Show CTCCTCCACTTCCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCA CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCT ACCTCCTCCACCTCCTCCTCCTCCTCCTCCACTTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCT GCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCC ACCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0113 a0001c0009t0001g0113	1	160	0.0063	720	c.688 others(737): Show c.688-2426_688-2425insCCTCCACTTCCTCCTCCACCTCCTCCTC TACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCTCCTCCACCTCCTCCTCTACCTCCTCCACCTCCTCCTCCTCCTCCTCC ACTTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCT CCTCCTCCACCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CACCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCACCTCCACCTCCACCTCCTCCTCCACTT	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(713): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGG TTGGCTGGTTTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAGAC GGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGC TCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCT CCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATTTT GTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTCGA ACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGA TTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCCTC CAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGTGC AGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02572.hp1 others(3): Show HG02109.hp2 HG02257.hp1 HG02572.hp1 HG02970.hp2 HG03516.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0006 a0001c0002t0002g0019 a0001c0002t0002g0209 others(1): Show a0001c0002t0002g0006 a0001c0002t0002g0019 a0001c0002t0002g0209 a0001c0002t0002g0211	6	316	0.0190	720	c.55 others(731): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAACAAAAACATAGGT ATCTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTTTTGTTTTGT TTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAA TGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATT CTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTA TGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGG TCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCT CCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGA CTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCAT TTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC6A12_chr12_185081_219157	197198	C C	CATCCATC others(713): Show CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCTATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCCATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCCATCTATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATC CATCCATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCA TCCATTCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCTATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0337 a0002c0003t0003g0337	1	420	0.0024	720	c.107 others(737): Show c.1075+178_1075+179insAGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGATGGATGG ATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGATGGAT GGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATAGATGGATGGATGGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATAGATGGATAGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGG ATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197198	C C	CATCCATC others(713): Show CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCTATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCCATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCTATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCATC TATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCA TCCATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TTCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCTATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0331 a0002c0003t0003g0331	1	420	0.0024	720	c.107 others(737): Show c.1075+178_1075+179insAGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATAGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGAT GGATAGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATAGATGGATGGATAGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATAGATGGATGGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATAGATGGATAGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGG ATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLC6A12_chr12_185081_219157	197198	C C	CATCCATC others(713): Show CATCCATCCATCCATCTATCCATCCATCTATCCATCCATCTATCCATCCA TCCATCTACCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATC CATCTATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCTATCCATCTATCCATCCATCTATCCATCCATCCATCCATCCATCCATC CATCCATCCATCTATCCATCTATCCATCCATCTATCCATCCATCTATCCA TCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCTA TCCATCCATCTATCCATCCATCCATCCATCCATCCATCCATCTATCCATC CATCTATCCATCCATCCATCCATCCATCCATCCATCCATCTATCCATCCA TCTATCCATCCATCTATCCATCCATCCATCTACCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTACCCATCCATCCATCCATCCATCCA TTCATCCATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATC CATCCATCCATCCATCCATCCATCTATCCATCCATCCATCCATCCATCCA TCTATCCATCTATCCATCCATCCATCCATCCATCTATCCATCCATCTATC CATCCATCCATCCATCCATCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0336 a0002c0003t0003g0336	1	420	0.0024	720	c.107 others(737): Show c.1075+178_1075+179insAGATGGATGGATGGATGGATGGATAGAT GGATGGATAGATGGATGGATGGATGGATGGATAGATGGATAGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGATAGATGGATGGATGGATGGATGGATGGATGAATGGATGG ATGGATGGATGGATGGGTAGATGGATGGATGGATGGATGGATGGATGGAT GGATGGATGGGTAGATGGATGGATGGATAGATGGATGGATAGATGGATGG ATAGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGATAGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATGGAT AGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATAG ATGGATGGATAGATGGATGGATAGATGGATAGATGGATGGATGGATGGAT GGATGGATGGATGGATGGATAGATGGATGGATAGATGGATAGATGGATGG ATGGATGGATGGATGGATAGATGGATGGATAGATGGATAGATGGATAGAT GGATGGATGGATGGATGGATGGATGGATGGATGGGTAGATGGATGGATGG ATAGATGGATGGATAGATGGATGGATAGATGGATGGATGGAT	SLC6A12	ENSG00000111181.13	transcript	ENST00000684302.1	protein_coding	10/15			chr12	TogoVar
SLIT3_chr5_168656740_169306139	168726523	G G	GGAGGCAG others(713): Show GGAGGCAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGAGAG GGAGAGGGAGGCAGGGAGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGCG AGGGAGAGGGAGGCAAGGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAG GCAAGGAGGGAGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGTGGGAA GGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGTGGG AGGGAGGGAGAGGGAGGGAGGGTGGGAGGGAGGGAGAGGGAGGGAGGGAG GGAGGGAGGGAGAGGGAGGGAGGGAGGGAGGGAGGGAGAGGGAGGGAGGG TGGGAGGGAGGGAGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGG AGAGGGAGGCAGGGAGACAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAG GGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGAG GGGGAGGCAGGGAGGGAGGGAGAGGGAGGCAGGGAGGCAGGGAGGGAGAG GGAGGCAGGGAGGGAGGGAGGGGGAGGGAGGCAGGGAGAGGGAGGCAAGG AGGGAGGGAGGGAGAGGGAGGCAGGGAGGGAGGGAGAGGGAGGGAGACGG AGGCAGGGAGAGAGGGAGGGAGAGGGAGGCAGGGAGGGAGAGGGACGCAG GGGGAGAGGTAGGGAGGGAGA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0009 a0001c0014t0009	a0001c0014t0009g0121 a0001c0014t0009g0121	1	132	0.0076	720	c.227 others(739): Show c.2271-2040_2271-2039insTCTCCCTCCCTACCTCTCCCCCTGCG TCCCTCTCCCTCCCTGCCTCCCTCTCCCTCCCTCTCTCCCTGCCTCCGTC TCCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCTTG CCTCCCTCTCCCTGCCTCCCTCCCCCTCCCTCCCTCCCTGCCTCCCTCTC CCTCCCTGCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCCCTCTC CCTGCCTCCCTCTCCCTCCCTCCCTGCCTCCCTCTCCCTCCCTCCCTGCC TCCCTCTCCCTCCCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTC CCTCCCTGCCTCCCTGTCTCCCTGCCTCCCTCTCCCTCCCTCCCACCCTC CCTCCCTCTCCCTCCCTCCCTCCCTCCCTCCCTCTCCCTCCCTCCCTCCC TCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCAC CCTCCCTCCCTCTCCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCTTCCC ACCCTCCCTCCCACCCTCCCTCCCTCTCCCTCCCTCCCTCCTTGCCTCCC TCTCCCTCCCTCCCACCCTCCCTCCCTCCTTGCCTCCCTCTCCCTCGCTC CCTCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTCTCCCTCTC TCCCTGCCTCCCTCTCCCTCCCTCCCTCCCTGCCTCCCTGCCTC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	20/35			chr5	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(713): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGA AGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGG GAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGAG GGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGA GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGG GAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGAA GGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGGA GGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGAG GGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGGG GGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGGG GAGGGGGAGGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02148.hp1 HG00735.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	352	0.0057	720	c.12 others(731): Show c.1221_*1222insTCCCGCCACCCCCTCCCCCTCCCCCTCCTCTCCC CTCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTC CTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCT CCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTC CCCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTC CCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTC CCCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCC TCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCC TCCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCC CCTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTC TCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCC TCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCC CCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCTT TCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(713): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGAG GGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGT GAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGG GAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGG AAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGG GGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGA GGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGG AGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAG GGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGA AGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGG AGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGA GGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGG GGGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGG GGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	720	c.12 others(731): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCC CCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCT CTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCT CCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCC CTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCCTCCCCTC TCCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCC TCCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCC CCCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCTCCTT TCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(713): Show GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGGGAAAGGAGGGGGGGA GGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGG TGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGG GGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGG AAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGG GGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGGAGGGA GGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGG AGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAG GGAGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGGGGGGAGG AGGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGGGGAGGGGA AGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGCGAAGGGGG AGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGAGGGGGA GGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGGAAGGGGGAAGG GGGAGGAGGGAGGGGAGAGGGGAGGGGGAGGGGGAGAGGGGAGAGGAGGG GGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG03654.hp1 HG01109.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	352	0.0057	720	c.12 others(731): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCCCCCTCCCCCTCCCTCC TCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCGCCTC CCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCC CCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCTCCTCCCCCTCCCCCTCCCCTCCCTCCTCCCCTCCCCT CTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCCCTCCCTCCTCCCCT CCCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCC CTCCTCTGCCCTCCCCTCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCT CCTCTCCTCCTCACCCCTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCT CCCCTCCCTCCTCCCCCTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCC CCTCTCCCCTCCCTGCCCTGCCCTCCCCTCCCCACCCTCCCCCCCTCCTT TCCCCTTCCTTCCTCCCTCCCTCCCTCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SNX9_chr6_157818246_157950077	157827544	T T	TTATAGTT others(713): Show TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATAT ATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTA TATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATT ATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAA TATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAA TATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGT TTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATAT ATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATAT AAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATA TAATATATAAATATATATTATAGTTTATATAATATATAAATATATATTAT AGTTTATATAATATATAAATA	intron_variant intron_variant	MODIFIER	NA19082.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	302	0.0033	720	c.12+ others(735): Show c.12+4102_12+4103insGTTTATATAATATATAAATATATATTATAG TTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATATA TATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATA TAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTAT ATAATATATAAATATATATTATAGTTTATATAATATATAAATATATATTA TAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAAT ATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAAT ATATAAATATATATTATAGTTTATATAATATATAAATATATATTATAGTT TATATAATATATAAATATATATTATAGTTTATATAATATATAAATATATA TTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATATATA AATATATATTATAGTTTATATAATATATAAATATATATTATAGTTTATAT AATATATAAATATATATTATAGTTTATATAATATATAAATATATATTATA GTTTATATAATATATAAATATATATTATAGTTTATATAATATATAAATAT ATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATAT ATAAATATATATTATAGTTTATATAATATATAAATATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SORCS2_chr4_7187538_7747827	7449027	T T	TCCTCCCT others(713): Show TCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTC CTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCC CTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCC CTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCT CCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCT CCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCT TCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCC CTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCT CCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCT CCCTTCCTCCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0005 a0001c0017t0005	a0001c0017t0005g0056 a0001c0017t0005g0056	1	168	0.0060	720	c.548 others(739): Show c.548+52680_548+52681insCCTCCCTCCCTTCCTCCCTCCCTTCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCC TCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTT CCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCC TCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTC CCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCC TCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCC TCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTC CCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCC TTCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTC CCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCC TCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SPIRE2_chr16_89823475_89876319	89852605	C C	CAACCCCC others(713): Show CAACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCATACGTCTTCTCTCTCACCCCCCGGATCCCATGATCCATCTTCC ATCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGCCCTCCCTC TCACCCCCCGGATCCCATGATCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0023 a0002c0002t0002g0023	1	356	0.0028	720	c.646 others(737): Show c.646-1681_646-1680insAACCCCCCGGATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGGATCCCATGATCCATCTTCCATCCTCCCT CTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC GGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGGATCCCATGGCCCGTCATACGTCTTCTCTCTCACCCCCC GGATCCCATGATCCATCTTCCATCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTC CGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCC GGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATG GCCCGTCTTCCGCCCTCCCTCTCACCCCCCGGATCCCATGATCCGTCTTC CGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCT CTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14			chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89852915	G G	GTCCTCCC others(713): Show GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG GATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGG CCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCC GTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTC TCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCG CATCCCATGGCCCGTCTTCCA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0317 a0001c0019t0001g0317	1	356	0.0028	720	c.646 others(737): Show c.646-1352_646-1351insGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGCATCCCAT GGCCCGTCTTCCGTCCTCCCTCTCACCCCCCGGATCCCATGGCCCGTCTT CCGTCCTCCCTCTCACCCCCCGCATCCCATGGCCCGTCTTCCGTCCTCCC TCTCACCCCCCGGATCCCATGGCCCGTCTTCCGTCCTCCCTCTCACCCCC CGCATCCCATGGCCCGTCTTCCATCCTCCCTCTCACCCCCCG	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(713): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAATACACATTATATATAATATATAATACACATTATATATTATA TATAATACACATTATATATTATATAATACACATTATATATTATATATAAT ACACATTATATATTATATATAATACACATTATATATTATATATAATACAC ATTATATATTATATATAATACACATTATATATTATATAATACACATTATA TATTATATATAATACACATTATATATATAATACACATTATATATTATATA TAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0081 a0001c0001t0003g0081	1	360	0.0028	720	c.62 others(731): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAATA TATAATGTGTATTATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATTATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATATAATAT GTATATAATATATAATATATAATATGTATATTATATATAATATATAATAC ATATAATATGTATATTATATATATAATATATAATATATAATACATATAAT ATGTATATTATATATATAATATATAATATATAATACATATAATATGCATA TTATATATAATATATTATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTA TATATAATGTATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(713): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAATACACATTATATATAATATATAATACACATTATATATTATA TATAATACACATTATATATTATATATAATACACATTATATATTATATAAT ACACATTATATATTATATATAATACACATTATATATTATATATAATACAC ATTATATATTATATATAATACACATTATATATTATATAATACACATTATA TATTATATATAATACACATTATATATATAATACACATTATATATTATATA TAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00621.hp1 HG00738.hp1 others(41): Show HG00140.hp1 HG00621.hp1 HG00738.hp1 HG01069.hp2 HG01070.hp2 HG01099.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01358.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01975.hp1 HG01978.hp1 HG01993.hp1 HG02040.hp1 HG02132.hp1 HG02258.hp1 HG02293.hp1 HG02300.hp2 HG02735.hp2 HG02738.hp2 HG03239.hp2 HG04204.hp1 NA18747.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp1 NA18959.hp2 NA18962.hp1 NA18969.hp1 NA18991.hp1 NA19001.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19068.hp2 NA19070.hp2 NA19085.hp2 NA19086.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0022 a0002c0005 a0009c0018	a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0002 a0001c0022t0001 a0002c0005t0001 a0009c0018t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 others(33): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0093 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0169 a0001c0001t0001g0178 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0235 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0002t0001g0056 a0001c0003t0002g0238 a0001c0022t0001g0179 a0002c0005t0001g0212 a0002c0005t0001g0213 a0002c0005t0001g0214 a0002c0005t0001g0216 a0009c0018t0001g0051	44	360	0.1222	720	c.62 others(731): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATTATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATATAATAT GTATATAATATATAATATATAATATGTATATTATATATAATATATAATAC ATATAATATGTATATTATATATATAATATATAATATATAATACATATAAT ATGTATATTATATATATAATATATAATATATAATACATATAATATGCATA TTATATATAATATATTATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTA TATATAATGTATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(713): Show CTATTATATATAATATACCTATTATATACATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAATACACATTATATATTATATATAATACACATTATATATTATA TATAATACACATTATATATTATATAATACACATTATATATTATATATAAT ACACATTATATATTATATATAATACACATTATATATTATATATAATACAC ATTATATATTATATATAATACACATTATATATTATATAATACACATTATA TATTATATATAATACACATTATATATATAATACACATTATATATTATATA TAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0134 a0001c0002t0006g0134	1	360	0.0028	720	c.62 others(731): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAATA TATAATGTGTATTATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATAATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATATAATAT GTATATAATATATAATATATAATATGTATATTATATATAATATATAATAC ATATAATATGTATATTATATATATAATATATAATATATAATACATATAAT ATGTATATTATATATATAATATATAATATATAATACATATAATATGCATA TTATATATAATATATTATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTA TATATAATGTATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124003	C C	CTATTATA others(713): Show CTATTATATATAATATACCTATTATATGCATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATAATATATTATATATAATATGCATATTATA TGTATTATATATTATATATTATATATATAATATACATATTATATGTATTA TATATTATATATTATATATATAATATACATATTATATGTATTATATATTA TATATAATATACATATTATATATTATATATTATATACATATTATATATTA TATATTATATACATATTATATATTATATACATATTATATATTATATATTA TATACATATTATACATTATATATATCTAAAATATATAATACACATTATAT ATTATATAATACACATTATATATAATATATAATACACATTATATATTATA TATAATACACATTATATATTATATATAATACACATTATATATTATATAAT ACACATTATATATTATATATAATACACATTATATATTATATATAATACAC ATTATATATTATATATAATACACATTATATATTATATAATACACATTATA TATTATATATAATACACATTATATATATAATACACATTATATATTATATA TAATACATAATACACATTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0233 a0001c0001t0001g0233	1	360	0.0028	720	c.62 others(731): Show c.6215_*6216insTATAATGTGTATTATGTATTATATATAATATATA ATGTGTATTATATATATAATGTGTATTATATATAATATATAATGTGTATT ATATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATAT AATATATAATGTGTATTATATATAATATATAATGTGTATTATATAATATA TAATGTGTATTATATATAATATATAATGTGTATTATATATAATATATAAT GTGTATTATATATTATATATAATGTGTATTATATAATATATAATGTGTAT TATATATTTTAGATATATATAATGTATAATATGTATATAATATATAATAT ATAATATGTATATAATATATAATATGTATATAATATATAATATATAATAT GTATATAATATATAATATATAATATGTATATTATATATAATATATAATAC ATATAATATGTATATTATATATATAATATATAATATATAATACATATAAT ATGTATATTATATATATAATATATAATATATAATACATATAATATGCATA TTATATATAATATATTATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTA TATATAATGCATATAATAGGTATATTATATATAATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3381		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124008	A A	ATATATAT others(713): Show ATATATATAATATACCTATTATATATATAATATACCTATTATATATAATA TACCTATTATATATAAAATATACCTATTATATATAATATACCTATTATAT ACATTATATATAATATACCTATTATATGCATTATATATAATATACCTATT ATATGCATTATATATAATATACCTATTATATGCATTATATATAATATACC TATTATATGCATTATATATAATATACCTATTATATGCATTATATATAATA TACCTATTATATGCATTATATATAATATACCTATTATATGCATTATATAT AATATACCTATTATATGCATTATATAATATATTATATATAATATGCATAT TATATGTATTATATATTATATATTATATATATAATATACATATTATATGT ATTATATATAATATATTATATATATAATATACATATTATATGTATTATAT ATTATATATAATATACATATTATATATTATATATTATATACATATTATAT ATTATATATTATATACATATTATATATTATATATTATATACATATTATAT ATTATATACATATTATATATTATATATTATATACATATTATACATTATAT ATATCTAAAATATATAATACACATTATATATTATATAATACACATTATAT ATTATATATAATACACATTATATATTATATATAATACACATTATATATTA TATATAATACACATTATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG02055.hp1 HG02717.hp1 others(5): Show HG01261.hp1 HG02055.hp1 HG02717.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG03139.hp1 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0010 a0001c0004t0021 a0001c0004t0004 a0001c0004t0010 a0001c0004t0021	a0001c0004t0004g0031 a0001c0004t0004g0146 a0001c0004t0004g0301 others(4): Show a0001c0004t0004g0031 a0001c0004t0004g0146 a0001c0004t0004g0301 a0001c0004t0010g0305 a0001c0004t0010g0306 a0001c0004t0010g0307 a0001c0004t0021g0311	8	360	0.0222	720	c.62 others(731): Show c.6210_*6211insATATATAATGTGTATTATATATAATATATAATGT GTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGTAT TATATAATATATAATGTGTATTATATATTTTAGATATATATAATGTATAA TATGTATATAATATATAATATATAATATGTATATAATATATAATATGTAT ATAATATATAATATATAATATGTATATAATATATAATATATAATATGTAT ATAATATATAATATATAATATGTATATTATATATAATATATAATACATAT AATATGTATATTATATATATAATATATTATATATAATACATATAATATGT ATATTATATATATAATATATAATATATAATACATATAATATGCATATTAT ATATAATATATTATATAATGCATATAATAGGTATATTATATATAATGCAT ATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATATAAT GCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTATATA TAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTATATTA TATATAATGCATATAATAGGTATATTATATATAATGTATATAATAGGTAT ATTATATATAATAGGTATATTTTATATATAATAGGTATATTATATATAAT AGGTATATTATATATATAATAGGTATATTATATATA	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3376		chr20	TogoVar
TGM2_chr20_38122385_38170270	38124011	T T	TATAATAT others(713): Show TATAATATACCTATTATATACATTATATATAATATACCTATTATATGCAT TATATATAATATACCTATTATATGCATTATATATAATATACCTATTATAT GCATTATATATAATATACCTATTATATGCATTATATATAATATACCTATT ATATGCATTATATAATATATTATATATAATATGCATATTATATGTATTAT ATATTATATATTATATATATAATATACATATTATATGTATTATATATTAT ATATTATATATATAATATACATATTATATGTATTATATATTATATATAAT ATACATATTATATATTATATATTATATACATATTATATATTATATATTAT ATACATATTATATATTATATACATATTATATATTATATATTATATACATA TTATACATTATATATATCTAAAATATATAATACACATTATATATTATATA ATACACATTATATATAATATATAATACACATTATATATTATATATAATAC ACATTATATATTATATATAATACACATTATATATTATATAATACACATTA TATATTATATATAATACACATTATATATTATATATAATACACATTATATA TTATATATAATACACATTATATATTATATATAATACACATTATATATTAT ATAATACACATTATATATTATATATAATACACATTATATATATAATACAC ATTATATATTATATATAATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00597.hp1 HG01346.hp2 others(22): Show HG00099.hp1 HG00597.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01515.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02559.hp2 HG02735.hp1 HG02809.hp1 HG02896.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp2 HG03492.hp2 HG03704.hp1 HG03710.hp2 NA18999.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0023 a0001c0001 a0011c0023	a0001c0001t0001 a0011c0023t0001 a0001c0001t0001 a0011c0023t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0015 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0067 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0111 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0162 a0001c0001t0001g0220 a0001c0001t0001g0239 a0001c0001t0001g0285 a0001c0001t0001g0299 a0011c0023t0001g0044	25	360	0.0694	720	c.62 others(731): Show c.6207_*6208insGTATTATATATAATATATAATGTGTATTATATAT ATAATGTGTATTATATATAATATATAATGTGTATTATATAATATATAATG TGTATTATATATAATATATAATGTGTATTATATATAATATATAATGTGTA TTATATATAATATATAATGTGTATTATATATAATATATAATGTGTATTAT ATAATATATAATGTGTATTATATATAATATATAATGTGTATTATATATAA TATATAATGTGTATTATATATTATATATAATGTGTATTATATAATATATA ATGTGTATTATATATTTTAGATATATATAATGTATAATATGTATATAATA TATAATATATAATATGTATATAATATATAATATGTATATAATATATAATA TATAATATGTATATAATATATAATATATAATATGTATATTATATATAATA TATAATACATATAATATGTATATTATATATATAATATATAATATATAATA CATATAATATGTATATTATATATATAATATATAATATATAATACATATAA TATGCATATTATATATAATATATTATATAATGCATATAATAGGTATATTA TATATAATGCATATAATAGGTATATTATATATAATGCATATAATAGGTAT ATTATATATAATGCATATAATAGGTATATTATATATAATGCATATAATAG GTATATTATATATAATGTATATAATAGGTATATTAT	TGM2	ENSG00000198959.12	transcript	ENST00000361475.7	protein_coding		3373		chr20	TogoVar
THEG_chr19_356747_381026	377008	C C	CCCCCACC others(713): Show CCCCCACCCAGCCTCTCCCCCTCTGTGTGCCCCCACCCAGCCTCTCCCCC TCTGTACCCCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCAGCCTCTC CCCCCCCGTGCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTC TCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGC CTCTCCCCCTCTGTACCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCC AGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCCC ACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCCTCTCCCCCTCTGTACC CCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGT GCCCCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCAGCCTCTCCCCCT CTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCT CCCCCTCTGTACCCCCACCCAGCCTCTCCCCCTCTGTACCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCTCTGTACCCCCA CCCAGCCTCTCCCCCTCTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0099 a0001c0001t0014g0099	1	370	0.0027	720	c.-10 others(731): Show c.-1039_-1038insTACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAG GGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGT ACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCT GGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGA GGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGG AGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGG GGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAG AGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTGGGTGGGGGC ACAGAGGGGGAGAGGCTGGGTGGGGTACAGAGGGGGAGAGGCTGGGTGGG GTACAGAGGGGGAGAGGCTGGGTGGGGCACGGGGGGGGAGAGGCTGGGTG GGGGTACAGAGGGGGAGAGGCTGGGTGGGGGTACAGAGGGGGAGAGGCTG GGTGGGGGCACACAGAGGGGGAGAGGCTGGGTGGGG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		983		chr19	TogoVar
TMEM132D_chr12_129066726_129909025	129539007	C C	CGTTGGCT others(713): Show CGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTAC TAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCC TGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGATCCCTGGCGATAGG TCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAG CGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTAC TAGTGAGTCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCC TGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCCTGGCTATAGG TCAGAAGGAGCGTTGGCTACTAGTGACTCCTGGCGATAGGTCAGAAGGAG CGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTAC TAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGGGACCCC TGGCGATAGGTCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGG TCAGAAGGAGCGTTGGCTACTAGTGACCCCTGGCGATAGGTCAGAAGGAG CGTTGGCTACTAGGGACCCCTGGCGATAGGTCAGAAGGAGCGTTGGCTAC TAGTGACCCCTGGCAATAGGTCAGAAGGAGCGTTGGTTACTAGTGACCCC TGGTGATAGGTCAGAAGGAGT	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	94	0.0106	720	c.969 others(737): Show c.969-7803_969-7802insACTCCTTCTGACCTATCACCAGGGGTCA CTAGTAACCAACGCTCCTTCTGACCTATTGCCAGGGGTCACTAGTAGCCA ACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTC TGACCTATCGCCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCG CCAGGGGTCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCC CTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCA ACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTC TGACCTATCGCCAGGAGTCACTAGTAGCCAACGCTCCTTCTGACCTATAG CCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCA CTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGACTCACTAGTAGCCA ACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTC TGACCTATCGCCAGGGGTCCCTAGTAGCCAACGCTCCTTCTGACCTATCG CCAGGGATCACTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCC CTAGTAGCCAACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCA ACGCTCCTTCTGACCTATCGCCAGGGGTCCCTAGTAGCCAAC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMEM161A_chr19_19114169_19143478	19116447	T T	TCAGCACT others(713): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGG TTGGCTGGTTTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAGAC GGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCAGC TCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCT CCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATTTT GTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTCGA ACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGA TTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCCTC CAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGTGC AGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02257.hp2 HG02572.hp2 others(3): Show HG02109.hp1 HG02257.hp2 HG02572.hp2 HG02970.hp2 HG03516.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0174 a0001c0001t0003g0175 others(3): Show a0001c0001t0003g0023 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179	6	352	0.0171	720	c.34 others(731): Show c.3482_*3483insGGATAACAGGCGTGAGCCACTGCACCCAGCCTGC AAATGAGCTATTCTTGAAAGAGCTCTAAGCTAGACTGGAGGAAAAAAAAC AGTCAACTAGGCCAGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTG GGAGGCCGAGGTGGGTGGATCACCTGAGGTCGAGAGTTCGAGACCAGGCT GACCAAAATGGAGAAACTCCGTCTCTACTAAAAATACAAAATTAGCCAGG CATAGTGGTACATGCCCTGTGATCCCACCTACTCGGGAGGCTGAGGCAGG AGAATCACTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCTGAGATTGCAC CATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAACA AAACAAAACAAAAAACAAACAAACAAAAACCAGCCAACCAACCAGGTAAG ATACCTATGTTTTTGTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTG CTCTGTCACCCAGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAAC CTCCGCCTCCCAAGTTCAAGAGACTCTCCTGTCTCACCCTCTCGAGTAGC TGGGATTACAGGCGCCCAGCACTATTCTCGGCTAATTTTTGTATTTTTAG TACAGACGGGGTTTCACCATATTGGCCAGGCTGTCTCGAACCCTTGACCT CAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGCTG	TMEM161A	ENSG00000064545.15	transcript	ENST00000162044.14	protein_coding		2721		chr19	TogoVar
TMPRSS2_chr21_41459305_41513158	41474314	A A	AGTGAGGA others(713): Show AGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTG AGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGG TGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTG AGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAG TGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTG AGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGG TGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTG AGGGAGTGAGTGAGGGGGTGG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0123 a0002c0005t0001g0123	1	382	0.0026	720	c.728 others(735): Show c.728-819_728-818insCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCTCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCC TCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTC ACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC CCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTC ACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC TCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS9_chr19_2355265_2431261	2377639	C C	CTCTCCCT others(713): Show CTCTCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCTC CCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCTCCCCTCCCCCTTCCCCC TCTCCTACCCCTCCCCCTTACCCTCCCCCCTTCCCCCCCTCTGCCCTCCC CTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTAT CCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCTCCCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCC TCTCCCCTCTCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCTCTCCCCTCCCCTCCCC CTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCTCCCGTCCCCCCTCCC TCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTCC CCTCCCCCCCTCCCCTCCCCTCCCCCCTCTCCTCTCCCCTCCCCTCTCCC CTCCCCTCTCCTCCCTTTCCT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	114	0.0088	720	c.-25 others(739): Show c.-25-12116_-25-12115insTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCCCCTTCCCTCTCCCCTCCCCTCTCCCCTCCCCTTCCCTCCCCTCT CCCCTCCCCCTTCCCCCTCTCCTACCCCTCCCCCTTACCCTCCCCCCTTC CCCCCCTCTGCCCTCCCCTATCCCCTCCTCTGCCCTCCCCTCTCCCCTCC CCTCCCCCCTCCCCTATCCCCTCTCCCCTCTCCCCTCTCCCCTCTCCCCT CTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCTCCCCTCTCCCTCTCCCCTCTCCCCTCCCCT CTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCC TCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCC CTCCCGTCCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCTCCT CTCCCCTCCCCTCTCCCCTCCCCTCTCCTCCCTTTCCTTCTCCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2418797	T T	TTCCCTTC others(713): Show TTCCCTTCTCTCCCTCCCTTTCCTTCCCTTCCCTCCCTCCCTTTCATTCC CTCCCTCCCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTCCCCTTCCCTCC CTCCCTTTCCTTCCCTCCATCCCTTTCCTTCCCTTCCCTTCCCTCCCTCC CTTTCCTTTCCTTCTCTCCTTCCCTTTCCTCCCTCCACTTCCTTCCCTCC CTCTTTCCTTCCCTGCCTTCCCTCCCTACCTCCCCTGCCTTCCCTCCCTA CCTCCCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCCTC CCTACCTCTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTA CCTCTCCTTTCCTTCCCTCCCTACGTCTCCTTTCCTTCCCTCCCTCCCTC TCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCCT CTCCTTCCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCCC TCTCCTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCCACCCTCC CTCCCCTTCCCACCCTCCCTCCCTCTCCTTCCCTTTCCTCCCTCTCTCTC CTTCCCTTCCCTCCCTCCCTCCCTTTCCTTCCCCCATCCCTTTCCTTCCC TCCCTCCCTTTCCTTCCCTCCCTCCCTCTCCTTCCCTCCCTCCCTCTCCT TCCTTCCCTCCCTCCCTTTCC	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0045 a0002c0002t0001g0045	1	114	0.0088	720	c.215 others(737): Show c.2154+660_2154+661insCCCTTCTCTCCCTCCCTTTCCTTCCCTT CCCTCCCTCCCTTTCATTCCCTCCCTCCCTTTCCTCCCCTTCCCTCCCTC CCTTTCCTCCCCTTCCCTCCCTCCCTTTCCTTCCCTCCATCCCTTTCCTT CCCTTCCCTTCCCTCCCTCCCTTTCCTTTCCTTCTCTCCTTCCCTTTCCT CCCTCCACTTCCTTCCCTCCCTCTTTCCTTCCCTGCCTTCCCTCCCTACC TCCCCTGCCTTCCCTCCCTACCTCCCCTTCCCTCCCTACCTCCCCTTCCC TCCCTACCTCCCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACCT CTCCTTTCCTTCCCTCCCTACCTCTCCTTTCCTTCCCTCCCTACGTCTCC TTTCCTTCCCTCCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTCC CTTCCCTCCCCACCCTCCCTCTCCTTCCCTTCCCTCCCTCCCTCTCCTTC CCTTCCCTCCCCACCCTCCCTCTCCTTCCCTCCCCACCCTCCCTCTCCTT CCCTTCCCTCCCCACCCTCCCTCCCCTTCCCACCCTCCCTCCCTCTCCTT CCCTTTCCTCCCTCTCTCTCCTTCCCTTCCCTCCCTCCCTCCCTTTCCTT CCCCCATCCCTTTCCTTCCCTCCCTCCCTTTCCTTCCCTCCCTCCCTCTC CTTCCCTCCCTCCCTCTCCTTCCTTCCCTCCCTCCCTTTCCT	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	14/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
VAV2_chr9_133756894_133997324	133827936	C C	CCTACCGC others(713): Show CCTACCGCTGTGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGC TACCGCTGCGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCACCTA CCGCTGTGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCACCTACC GCTGTGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCACCTACCGC TGTGCCCACTGAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTG CGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCG CCCACTGGGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCC CACTGGGGCTGACCACTGAGCACGGGCATCGCCACCTACCGCTGCGCCCA CTGAGGCTGACCACTGAGCACGGGCATCGCCACCTACCGCTGTGCCCACT GAGGCTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGA GGCTGACCACTGAGCACGGGCATCGCCACCTACCGCTGTGCCCACTGAGG CTGACCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGGGGCT GACCACTGAGCACGGGCATCGCCACCTACCGCTGTGCCCACTGGGGCTGA CCACTGAGCACGGGCATCGCCAGCTACCGCTGCGCCCACTGAGGCTGACC ACTGAGCACGGGCATCGCCAG	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0001 a0001c0006t0009g0001	1	200	0.0050	720	c.449 others(737): Show c.449+6335_449+6336insCTGGCGATGCCCGTGCTCAGTGGTCAGC CTCAGTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCC CAGTGGGCACAGCGGTAGGTGGCGATGCCCGTGCTCAGTGGTCAGCCCCA GTGGGCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGT GGGCACAGCGGTAGGTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGG GCGCAGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGC ACAGCGGTAGGTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGC AGCGGTAGGTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAG CGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCG GTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCGGT AGCTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCACAGCGGTAG GTGGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCACAGCGGTAGGT GGCGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCACAGCGGTAGGTGG CGATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCGCAGCGGTAGCTGGCG ATGCCCGTGCTCAGTGGTCAGCCTCAGTGGGCACAGCGGTAG	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(713): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAACAACAAAGAAAAAAAAAACAAATGAAC AAAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTG TTTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAG GCGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTC TTTCTCTTATCATGTCATGATAAAAACTAAAGGGCGGGGCTGGGCACGGT GGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02055.hp2 HG02145.hp2 others(8): Show HG00639.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02486.hp2 HG02647.hp1 HG02717.hp2 HG02970.hp1 HG03579.hp1 HG03831.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0010 a0003c0006 others(1): Show a0001c0001 a0001c0010 a0003c0006 a0003c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0010t0001 a0003c0006t0001 a0003c0012t0001	a0001c0001t0001g0006 a0001c0001t0003g0050 a0001c0001t0004g0010 others(4): Show a0001c0001t0001g0006 a0001c0001t0003g0050 a0001c0001t0004g0010 a0001c0010t0001g0053 a0003c0006t0001g0007 a0003c0006t0001g0052 a0003c0012t0001g0054	11	274	0.0402	720	c.51 others(731): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTTAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATACT TAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTAG CGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAAA ACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTTT TTTTTTCTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(713): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAAAAACAACAAAGAAAAAAAAAACAAATGAAC AAAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTG TTTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCG AGTAGCTGGGACTACAGGCGTCCACCACCACGCCCCGCTAATTTTTCTAT TTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTC CTGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAG GCGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTC TTTCTCTTATCATGTCATGATAAAAACTAAAGGGCGGGGCTGGGCACGGT GGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	274	0.0037	720	c.51 others(731): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTTAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATACT TAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAGC ACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACCA TCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTAG CGGGGCGTGGTGGTGGACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAAA ACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTTT TTTTTTCTTTGTTGTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(713): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAACAACAACAAAGAAAAAAAAAACAAATGAACA AAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGT TTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCT TTCTCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCACGGT GGCTCACCCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0089 a0001c0001t0003g0089	1	274	0.0037	720	c.51 others(731): Show c.5167_*5168insTTGGGATTACAGGGGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTTTTTCTTTGTTGTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar
VEZF1_chr17_57966552_57993254	57969305	G G	GCACTTTG others(713): Show GCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAGAT CATCCTGGCTAACACGGTGAAACCCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATGGCGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAACAACAACAAAGAAAAAAAAAACAAATGAACA AAAAACCACCCTGATAGTTTTTGTTGTTGTTGTTGTTTTTGAGATGGTGT TTCACTCTTGTTGCCCGGGCTGTAGTGCAATGGCGCGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACACCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCACCACCACGCCCCGCTAATTTTTCTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTTGTGATCCTCCCGCCTCAGCCTTCCAAAGTGCTGGGATTACAGG CGTGAGCCACTGCGCCCGACCCGGTAGAGAATCTTAAGTATAAAACTTCT TTCTCTTATCATGTCATGATAAAAACTATAAGGGCGGGGCTGGGCACGGT GGCTCACGCCTGTAATCCCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(116): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00741.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01168.hp2 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02300.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG02965.hp2 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19000.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19030.hp2 NA19058.hp1 NA19058.hp2 NA19066.hp1 NA19066.hp2 NA19076.hp1 NA19077.hp1 NA19083.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0007 a0002c0003 others(2): Show a0001c0001 a0001c0007 a0002c0003 a0002c0005 a0004c0011	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0019 a0001c0001t0020 a0001c0007t0001 a0002c0003t0001 a0002c0005t0001 a0004c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(46): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0022 a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0003g0020 a0001c0001t0003g0068 a0001c0001t0003g0106 a0001c0001t0008g0084 a0001c0001t0010g0096 a0001c0001t0013g0093 a0001c0001t0019g0064 a0001c0001t0020g0107 a0001c0007t0001g0027 a0001c0007t0001g0058 a0001c0007t0001g0059 a0002c0003t0001g0009 a0002c0005t0001g0021 a0002c0005t0001g0070 a0002c0005t0001g0076 a0002c0005t0001g0092 a0004c0011t0001g0077	119	274	0.4343	720	c.51 others(731): Show c.5167_*5168insTTGGGATTACAGGCGTGAGCCACCGTGCCCAGCC CCGCCCTTATAGTTTTTATCATGACATGATAAGAGAAAGAAGTTTTATAC TTAAGATTCTCTACCGGGTCGGGCGCAGTGGCTCACGCCTGTAATCCCAG CACTTTGGAAGGCTGAGGCGGGAGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAGAAAAATTA GCGGGGCGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CGCGCCATTGCACTACAGCCCGGGCAACAAGAGTGAAACACCATCTCAAA AACAACAACAACAACAAAAACTATCAGGGTGGTTTTTTGTTCATTTGTTT TTTTTTTCTTTGTTGTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCACCCAGGCTGGAGTGCAGTGGCGCCATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCT GACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTG	VEZF1	ENSG00000136451.9	transcript	ENST00000581208.2	protein_coding		2246		chr17	TogoVar

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Search Results (Total: 8931 hits)