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
ABR_chr17_998519_1184981	1159250	G G	GGGAGAAG others(715): Show GGGAGAAGTAAGAATGCGGTACTCACGCACAAGGGAAGTATGCGGTACTC ACACACAGGAGAAGTAAGAATGCGGTACTCACACACGGGAGAAGTAGGAA TGCGGTACTCACACACAGGAGAAGTAAGAATGCGGTACTCACACACAAGG GAAGTATGCGGTACTCACACACAGGAGAAGTAAGAATGCGGTACTCACAC ACAAGGGAAGTATGCGGTACTCACACACATGAGAAGTAAGAATGCGGTAC TCACACACAGGAGAAGTAGGAATGCGGTACTCACACACGGGAGAAGTAGG AATGCGGTACTCACACACAGGAGAAGTAAGAATGCGGTACTCACGCACAA GGGAAGTATGCGGTACTCACACACAGGAGAAGTAAGAATGCGGTACTCAC ACACAAGGGAAGTATGCGGTACTCACACACAGGAGAAGTAAGAATGCGGT ACTCACACACGGGAGAAGTAGGAATGCGGTACTCACACACAGGAGAAGTA AGAATGCGGTACTCACACACAAGGGAAGTATGCGGTACTCACACACAGGA GAAGTAAGAATGCGGTACTCACACACAAGGGAAGTATGCGGTACTCACAC ACAGGAGAAGTAAGAATGCGGTACTCACACACGGGAGAAGTAGGAATGCG GTACTCACACACGGGAGAAGTAGGAATGCGGTACTCACACACATGAGAAG TAAGAATGCGGTACTCACACACA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0331 a0001c0001t0089g0331	1	337	0.0030	722	c.61+ others(739): Show c.61+20416_61+20417insTGTGTGTGAGTACCGCATTCTTACTTCT CATGTGTGTGAGTACCGCATTCCTACTTCTCCCGTGTGTGAGTACCGCAT TCCTACTTCTCCCGTGTGTGAGTACCGCATTCTTACTTCTCCTGTGTGTG AGTACCGCATACTTCCCTTGTGTGTGAGTACCGCATTCTTACTTCTCCTG TGTGTGAGTACCGCATACTTCCCTTGTGTGTGAGTACCGCATTCTTACTT CTCCTGTGTGTGAGTACCGCATTCCTACTTCTCCCGTGTGTGAGTACCGC ATTCTTACTTCTCCTGTGTGTGAGTACCGCATACTTCCCTTGTGTGTGAG TACCGCATTCTTACTTCTCCTGTGTGTGAGTACCGCATACTTCCCTTGTG CGTGAGTACCGCATTCTTACTTCTCCTGTGTGTGAGTACCGCATTCCTAC TTCTCCCGTGTGTGAGTACCGCATTCCTACTTCTCCTGTGTGTGAGTACC GCATTCTTACTTCTCATGTGTGTGAGTACCGCATACTTCCCTTGTGTGTG AGTACCGCATTCTTACTTCTCCTGTGTGTGAGTACCGCATACTTCCCTTG TGTGTGAGTACCGCATTCTTACTTCTCCTGTGTGTGAGTACCGCATTCCT ACTTCTCCCGTGTGTGAGTACCGCATTCTTACTTCTCCTGTGTGTGAGTA CCGCATACTTCCCTTGTGCGTGAGTACCGCATTCTTACTTCTCC	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ADAMTS2_chr5_179105853_179350461	179278050	C C	CCCCCCCG others(715): Show CCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACC CCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCC GCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCCG AGACCAAAGGCTGACCCCCCACCCGAGACCAAAGGCTGACACCCCCCAGA GACCAAAGGCTGACCCCCCCGAGACCAAAGGCTGACCCCCCCGAGACCAA AGGCTGACCGCCCCCGAGACAAAAGGCTGACCACCCCCGAGACCAAAGGC TGACCCCCCGCGAGACCAAAGGCTGACCCCCCCGAGACCAAAGGCTGACC CCCCCGAGACCAAAGGCTGACCGCCCCCGAGACAAAAGGCTGACCACCCC CGAGACCAAAGGCTGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCCGA GACCAAAGGCTGACCCCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGA CCAAAGGCTGACCCCCCCGCGAGACCAAAGGCTGACCCCCCCGCGAGACC AAAGGCTGACCCCCCCCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAG GCTGACCCCCCGCGAGACCAAAGGCTGACCCCCCCCGAGACCAAAGGCTG ACCCCCCCCCGAGACCAAAGGCTGACCCCCCACCCGAGACCAAAGGCTGA CACCCCCCAGAGACCAAAGGCTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0030 a0030	a0030c0085 a0030c0085	a0030c0085t0002 a0030c0085t0002	a0030c0085t0002g0202 a0030c0085t0002g0202	1	276	0.0036	722	c.535 others(739): Show c.535-4987_535-4986insCAGCCTTTGGTCTCTGGGGGGTGTCAGC CTTTGGTCTCGGGTGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGTCAGCC TTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTTTG GTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCT CGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCG GGGGGGGTCAGCCTTTGGTCTCGGGGGGGGGGTCAGCCTTTGGTCTCGGG GGGGGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTTTGGTCTCGGGGGT GGTCAGCCTTTTGTCTCGGGGGCGGTCAGCCTTTGGTCTCGGGGGGGTCA GCCTTTGGTCTCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGGTCAGCCTT TGGTCTCGGGGGTGGTCAGCCTTTTGTCTCGGGGGCGGTCAGCCTTTGGT CTCGGGGGGGTCAGCCTTTGGTCTCGGGGGGGTCAGCCTTTGGTCTCTGG GGGGTGTCAGCCTTTGGTCTCGGGTGGGGGGTCAGCCTTTGGTCTCGGGG GGGGGTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGCGGGGG GTCAGCCTTTGGTCTCGGGGGGGGTCAGCCTTTGGTCTCGGGGGGGGTCA GCCTTTGGTCTCGCGGGGGGGTCAGCCTTTGGTCTCGCGGGGGG	ADAMTS2	ENSG00000087116.17	transcript	ENST00000251582.12	protein_coding	2/21			chr5	TogoVar
ASMTL_chrX_1398139_1457909	1453971	G G	GGTGGGAG others(715): Show GGTGGGAGGGGAGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGC GTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGG GTGTCCACGGGCCTGGTGGGAGGGGAGTGGAGATGGGGGTGTCCACGGGC CTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGG GCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGG GGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGG GCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAG GGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGAGTGGAGAT GGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCAC GGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGG AGGGGAGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAG ATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCC ACGGGCCTGGTGGGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTG GGAGGGGCGTGGAGATGGGGGTGTCCACGGGCCTGGTGGGAGGGGCGTGG AGATGGGGGTGTCCACGGGCCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0158 a0003c0002t0001g0158	1	185	0.0054	722	c.-11 others(733): Show c.-1132_-1131insAAGGCCCGTGGACACCCCCATCTCCACGCCCCTC CCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCG TGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCA TCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCC TCCCACCAGGCCCGTGGACACCCCCATCTCCACTCCCCTCCCACCAGGCC CGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCC CATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACTCC CCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGG CCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACC CCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACG CCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCA GGCCCGTGGACACCCCCATCTCCACGCCCCTCCCACCAGGCCCGTGGACA CCCCCATCTCCACTCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCA CGCCCCTCCCACCAGGCCCGTGGACACCCCCATCTCCACGCCCCTCCCAC CAGGCCCGTGGACACCCCCATCTCCACTCCCCTCCCAC	ASMTL	ENSG00000169093.16	transcript	ENST00000381317.9	protein_coding		1063		chrX	TogoVar
CALN1_chr7_71774491_72417338	72209170	T T	TTCCTTCC others(715): Show TTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCCTTCCCT CCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCTCC TTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTT CCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCC CTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTTCCCT CCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCCTCTTTCC TTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCGTCCTT CCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCC GTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCTCTTT CCTTCCCTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCCTCCTTCC CTCTTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCCTCCTTCCCT CCTTCCTTCCCTCCTTCCCTCCTTCCTTCCCTCCTTCCTTCCCTCCTTCC CTCCTTCCTTCCCTCCTTCCCTCTTTCCTTCCCTCCTTCCTTCCCTCCTT CCCTCCTTCCCTCCTTCCTTCCC	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	142	0.0070	722	c.244 others(741): Show c.244+69515_244+69516insGGGAAGGAAGGAGGGAAGGAGGGAAG GAGGGAAGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAAGGAGGGA AGGAGGGAAGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGG GAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGA AGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAA GAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGGGAAGGACGGA AGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAG GACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA AAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGG GAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGA AGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAG GAGGGAAGGAAAGAGGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGA GGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAGGAGGGAAGGAGG GAAGGAGGGAAGGACGGAAGGAAGGAGGGAAGGAGGGAAGGAAAGAGGGA AGGAGGGAAAGGGAAGGAGGGAAGGAAAGAGGGAAGGAGGGAAGGA	CALN1	ENSG00000183166.12	transcript	ENST00000395275.7	protein_coding	3/6			chr7	TogoVar
CBFA2T3_chr16_88869858_88982207	88888557	T T	TGGGGTGG others(715): Show TGGGGTGGGAGGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGGGGT GGAGGAGGGTTGGGGTGGGGGAAGGGTGTGTGGGGCTGGGGAGGGTTGGG GTGGGGTGGGGGAGGGTTGGGGTGGGGTGGGGGTGGGGTGGGGTGGGGGA AGGGTGTGGGTGGGGCTGGGGAGGGTTGGGGTGGGGGAAGGGTGTGTGTG GGGCTGGGGAGGGGTGGGTAGGGTGGGGGAAGGGTGCGGGTGGGGTTGGG GAGGGGTGGGGTGGAGTGGGGGAAGGGTATGGGTGGGGCTGGGGAGGGGT GGGGTGGGGTGGGAGGGGGAGGGGTGGGGTGGAGTGGGGGCTACTCCCTG GGTGGGGTGGAGGAGGGGTGGGGTGGGGGAAGGGTGCAGGTGGGGTGGAG GAGGGGTGGAGGAGGGGTGGGGGAGGGAGGGGTGGGGTGGGGGAAGGGTG TGGGTGGGGTGGGAGGGGGTGGGGTGGAGTGGGGGCTACTCCCTGGGTGG GGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGTGGGTGGGGTGGGGGAGGG GTGCGGGTGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGAGGGGGGTGG GGTGGGGGAGGGGTGGGGTGGGAGGGGGTGGGGTGGGGTGGGGGAGGGGT GGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTGGGGTG GGAGGGGGTGGGGTGGGGTGGGA	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0196 a0001c0001t0001g0196	1	284	0.0035	722	c.712 others(739): Show c.712-2416_712-2415insTCCCACCCCACCCCACCCCCTCCCACCC CACCCCACCCCCTCCCACCCCACCCCACCCCTCCCACCCCACCCCACCCC TCCCCCACCCCACCCCACCCCCTCCCACCCCACCCCTCCCCCACCCCACC CCCCTCCCACCCCACCCCACCCCTCCCACCCCACCCCACCCGCACCCCTC CCCCACCCCACCCACACCCTTCCCCCACCCCACCCCTCCCCCACCCCACC CAGGGAGTAGCCCCCACTCCACCCCACCCCCTCCCACCCCACCCACACCC TTCCCCCACCCCACCCCTCCCTCCCCCACCCCTCCTCCACCCCTCCTCCA CCCCACCTGCACCCTTCCCCCACCCCACCCCTCCTCCACCCCACCCAGGG AGTAGCCCCCACTCCACCCCACCCCTCCCCCTCCCACCCCACCCCACCCC TCCCCAGCCCCACCCATACCCTTCCCCCACTCCACCCCACCCCTCCCCAA CCCCACCCGCACCCTTCCCCCACCCTACCCACCCCTCCCCAGCCCCACAC ACACCCTTCCCCCACCCCAACCCTCCCCAGCCCCACCCACACCCTTCCCC CACCCCACCCCACCCCCACCCCACCCCAACCCTCCCCCACCCCACCCCAA CCCTCCCCAGCCCCACACACCCTTCCCCCACCCCAACCCTCCTCCACCCC ACCCAGGGAGTAGCCCCCACTCCACCCCACCCCCCTCCCACCCC	CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11			chr16	TogoVar
CFAP61_chr20_20047532_20365698	20337583	T T	TAGATGGA others(715): Show TAGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATG GATGGATGGATAGATGGGTGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATG GGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATGGATGGATGGATGGATGGATGGATAGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTG GGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGA TGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATG GATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGA TGGATGGATAGATGGATAGATGG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0070 a0003c0005t0002g0070	1	236	0.0042	722	c.342 others(741): Show c.3423-4248_3423-4247insAGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATAGATGGGTGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGGGTGG GTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGG ATGGATGGATGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATGGATGGATGGATGGATGG ATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGATAGATGGGTGGGTGGATGGATGG ATGGATAGATGGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGGT GGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGATGGATAG ATGGGTGGGTGGATGGATGGATGGATAGATGGGTGGGTGGATGGATGGAT GGATAGATGGGTGGGTGGATGGATGGATGGATAGATGGATAGATGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	25/26			chr20	TogoVar
CNTNAP2_chr7_146111801_148425998	147062143	A A	AAGAAAAA others(715): Show AAGAAAAAGAAAAAAAACTGCGCAAAAATTACATCAAAATACTAATCATA TTTCTGAGATGGAGTATTATGGATAACCTTTTTTATGTTTTTCTGCATTA ATATTCAATAACTTTATTACTAATATTCAAATATTACTATAATCGCTGAA AGACAAATGCTGTGTGTGTGTATACACTCATGTGTTCCCAGAGACTAGTT GCAATACTTACAGTGGCCCCTGTTTGTATTTCCTCCTCCAAGATTCAGTG ATTCTCTGCTGCTTCTCCTGCAGTCTTGGGAAATTGAATCAATTGGGAAT GTGTTGATGGTCCACCTATAAATAATTATCCCCAAATAGTAACCAATTAC TTTATTTGAAAACAAAACAAAACAAAAAAACACTAGCTGAATAAACTAGT ATACTTAGTGTTCGAATACTAATAACATAATTCAAAAACAGTTCTTTGGC TGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTGGGCGG ATCACGAGGTCAGGAGATCGAGACCATCCTGGCTCACACGGTGAAACCCC ATCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCT GTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGTGGAGCTTGCAGTGAGCCGAGATCACACCACTGCACTCCAGCCTGG GCGACAGAGCGAGACTCCGTCTC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG03540.hp2 HG02486.hp1 HG02630.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0007 a0001c0002t0002 a0001c0003t0004 a0001c0001t0007 a0001c0002t0002 a0001c0003t0004	a0001c0001t0007g0020 a0001c0002t0002g0013 a0001c0003t0004g0029 a0001c0001t0007g0020 a0001c0002t0002g0013 a0001c0003t0004g0029	3	40	0.0750	722	c.550 others(741): Show c.550+18090_550+18091insGAAAAAGAAAAAAAACTGCGCAAAAA TTACATCAAAATACTAATCATATTTCTGAGATGGAGTATTATGGATAACC TTTTTTATGTTTTTCTGCATTAATATTCAATAACTTTATTACTAATATTC AAATATTACTATAATCGCTGAAAGACAAATGCTGTGTGTGTGTATACACT CATGTGTTCCCAGAGACTAGTTGCAATACTTACAGTGGCCCCTGTTTGTA TTTCCTCCTCCAAGATTCAGTGATTCTCTGCTGCTTCTCCTGCAGTCTTG GGAAATTGAATCAATTGGGAATGTGTTGATGGTCCACCTATAAATAATTA TCCCCAAATAGTAACCAATTACTTTATTTGAAAACAAAACAAAACAAAAA AACACTAGCTGAATAAACTAGTATACTTAGTGTTCGAATACTAATAACAT AATTCAAAAACAGTTCTTTGGCTGGGCGCTGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CTGGCTCACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAG CCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGTGGAGCTTGCAGTGAGCCGAGATC ACACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	4/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A1_chr13_110143963_110312157	110255884	A A	AAGGGGGA others(715): Show AAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGG GGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGAAG GCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGG GAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAA GGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAAGGGGGA AGGCAGGAAGGGAGGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0024 a0002c0024	a0002c0024t0002 a0002c0024t0002	a0002c0024t0002g0281 a0002c0024t0002g0281	1	344	0.0029	722	c.85- others(739): Show c.85-13151_85-13150insCTCCCTTCCTGCCTTCCCCCTTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCCTCCCTTCCTGCCTTCCCC CTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCC TGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGC CTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCC TTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCC CCCTTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
CUL4A_chr13_113204613_113272108	113232154	G G	GTCACCAC others(715): Show GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACCA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGC CCACCACCATTACTGTCACCACTACCTGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCA CCACTACCCGCCCACCACCATTA	intron_variant intron_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	396	0.0025	722	c.513 others(739): Show c.513-1023_513-1022insTCACCACTACCCGCCCACCACCATTACT GTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCA CCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCC GCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCAC CACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATT ACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCA CCACCATTACTGTCACCACCACCCGCCCACCACCATTACTGTCACCACTA CCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGT CACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACC ATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCTGC CCACCACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCA CTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTAC TGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACCCGCCCACC ACCATTACTGTCACCACTACCCGCCCACCACCATTACTGTCACCACTACC CGCCCACCACCATTACTGTCACCACTACCCGCCCACCACCATTA	CUL4A	ENSG00000139842.15	transcript	ENST00000375440.9	protein_coding	5/19			chr13	TogoVar
DNAH17_chr17_78418697_78582396	78438425	A A	AAGGAGGA others(715): Show AAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGGAGG AGGGAGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGGAGGAGGGAGGAGGA GGAGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGGGAG GAGGAGGGAGGAGGAGGGGAGGAGGAGGGAGGAGGAGGAGGAGGGGGAGG GGAGGAGGGGGAGGAGGGAGGAGGAGGAGGGGGAGGAGGGAGGAGGGAGG AGGGGGAGGAGGGGAGGGAGGGGGAGGAGGGAGGAGGGAGGAGGAGGAGG AGGAGGGAGGAGGAGGAGGAGGAGGAAGAGGGGGGAGGAGGAGAAGAGGG GGGAGGAGGAGGAAGAGGGGGGGAGGAGGAGGAAGAGGGGGGAGGAGGAG GAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGG AGGAGGGAGGAGGAGGGAGGAGGAGGGAGGAGGGAGGAGGAGGAGGGAGG AGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAAGGAGGGAGGGAGAGGG AGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGAGGGAGGAGGAGGGA GGAGGGAGGAGGGAGAGGAGGAGGGAGGAGGAGGAGGAGGAGGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGGAGGAGGAGGAGGAGGGAGGAGGAGG AGGAGGAGGAGGAGGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0065 a0065	a0065c0068 a0065c0068	a0065c0068t0001 a0065c0068t0001	a0065c0068t0001g0198 a0065c0068t0001g0198	1	252	0.0040	722	c.118 others(741): Show c.11806-558_11806-557insCCCTCCTCCCTCCTCCTCCTCCTCCT CCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCTCTCCCTCCTCCCTCCTCC CTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCC TCTCCCTCCCTCCTTCCTCCTCCCTCCTCCTCCTCCTCCCTCCTCCTCCT CCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCTCCT CCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTCCTCCTCCCTCCTC CTCCTCCCCCCTCTTCCTCCTCCTCCCCCCCTCTTCCTCCTCCTCCCCCC TCTTCTCCTCCTCCCCCCTCTTCCTCCTCCTCCTCCTCCTCCCTCCTCCT CCTCCTCCTCCCTCCTCCCTCCTCCCCCTCCCTCCCCTCCTCCCCCTCCT CCCTCCTCCCTCCTCCCCCTCCTCCTCCTCCCTCCTCCCCCTCCTCCCCT CCCCCTCCTCCTCCTCCTCCCTCCTCCTCCCCTCCTCCTCCCTCCTCCTC CCTCCTCCCTCCTCCTCCTCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCC TCCTCCCTCCTCCCTCCTCCCTCCTCCTCCTCCTCCTCCTCCTCCCTCCT CCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	73/80			chr17	TogoVar
DPEP1_chr16_89608642_89643433	89638734	G G	GCACCCCT others(715): Show GCACCCCTGCACACACACACACCCCATCCCTGCACGCACACACCCCACCC CTGCACGCACACCCCCCACCCCTGCACACACACACCCCACCCCTGCACAC ACACACATACCCCACCCCTGCACACACACACACACCCCACCCCTGCACAC ACACACACCCCACCCCTGCACACACACACACACCGCACCCCTGCACACAC ACACATACCCCACCCCTGCACACACACACACCGCACCCCTGCACACACAC ACCCCACCCCTGCACACACACACACACCGCACCCCTGCACGCACACACCC CCCACCCCTGCACGCACACACCCACCGCACCCCTGCACACACACACCCCA TTCCTGCACACACACACCCCCACCCCTGCACATTCACATCCCACCCCTGC ACACACCCTCATCCTTGCACACACACACCCCATCCCTGCACGCACACACA CCCCACCCCTGCACACACCCCCACCCCTGCACGCACACACCGCACCCCTG CACGCACACACCGCACCCCTGCACACACACCCCCACCCCTGCACGCACAC ACCCCACCCCTGCACACCCCACCCCTGCACACACAACCCATCCCTGCTCA CATACCCCACCCCTGCACACACCTCACCCCTGCACACACCCCACCCCTGC ACACACCCCCACCCCTGCACACACCCCCACCCCTACACACCACCCCTGCA CACACACAACCCTGTGCACACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp2 NA18999.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0153 a0002c0002t0001g0153	1	250	0.0040	722	c.51 others(731): Show c.512_*513insCACCCCTGCACACACACACACCCCATCCCTGCACGC ACACACCCCACCCCTGCACGCACACCCCCCACCCCTGCACACACACACCC CACCCCTGCACACACACACATACCCCACCCCTGCACACACACACACACCC CACCCCTGCACACACACACACCCCACCCCTGCACACACACACACACCGCA CCCCTGCACACACACACATACCCCACCCCTGCACACACACACACCGCACC CCTGCACACACACACCCCACCCCTGCACACACACACACACCGCACCCCTG CACGCACACACCCCCCACCCCTGCACGCACACACCCACCGCACCCCTGCA CACACACACCCCATTCCTGCACACACACACCCCCACCCCTGCACATTCAC ATCCCACCCCTGCACACACCCTCATCCTTGCACACACACACCCCATCCCT GCACGCACACACACCCCACCCCTGCACACACCCCCACCCCTGCACGCACA CACCGCACCCCTGCACGCACACACCGCACCCCTGCACACACACCCCCACC CCTGCACGCACACACCCCACCCCTGCACACCCCACCCCTGCACACACAAC CCATCCCTGCTCACATACCCCACCCCTGCACACACCTCACCCCTGCACAC ACCCCACCCCTGCACACACCCCCACCCCTGCACACACCCCCACCCCTACA CACCACCCCTGCACACACACAACCCTGTGCACACCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding		302		chr16	TogoVar
FMN1_chr15_32760544_33199714	32777984	A A	ATATAATA others(715): Show ATATAATACATGTATTATATATTATGTATAATATATAATACATGTATTAT ATATTATGTATAATATATAATACATGTATTATATATTATGTATAATATAT AATACATGTATTATATATTATGTATAATATATAATACATGTATTATATAT TATGTATAATATATAATACATGTATTATATATTATGTATAATATATAATA CATGTATTATATATTATGTATAATATATAATACATGTATTATATATTATG TATAATATATAATACATGTATTATATATTATGTATAATATATAATACATG TATTATATATTATGTATAATATATAATACATGTATTATATATTATGTATA ATATATAATACATGTATTATATATTATGTATAATATATAATACATGTATT ATATATTATGTATAATATATAATACATGTATTATATATTATGTATAATAT ATAATACATGTATTATATATTATGTATAATATATAATACATGTATTATAT ATTATGTATAATATATAATACATGTATTATATATTATGTATAATATATAA TACATGTATTATATATTATGTATAATATATAATACATGTATTATATATTA TGTATAATATATAATACATGTATTATATATTATGTATAATATATAATACA TGTATTATATATTATGTATAATATATAATACATGTATTATATATTATGTA TAATACATGTATTATATATTATG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0020 a0020	a0020c0074 a0020c0074	a0020c0074t0012 a0020c0074t0012	a0020c0074t0012g0116 a0020c0074t0012g0116	1	196	0.0051	722	c.413 others(741): Show c.4131-1066_4131-1065insCATAATATATAATACATGTATTATAC ATAATATATAATACATGTATTATATATTATACATAATATATAATACATGT ATTATATATTATACATAATATATAATACATGTATTATATATTATACATAA TATATAATACATGTATTATATATTATACATAATATATAATACATGTATTA TATATTATACATAATATATAATACATGTATTATATATTATACATAATATA TAATACATGTATTATATATTATACATAATATATAATACATGTATTATATA TTATACATAATATATAATACATGTATTATATATTATACATAATATATAAT ACATGTATTATATATTATACATAATATATAATACATGTATTATATATTAT ACATAATATATAATACATGTATTATATATTATACATAATATATAATACAT GTATTATATATTATACATAATATATAATACATGTATTATATATTATACAT AATATATAATACATGTATTATATATTATACATAATATATAATACATGTAT TATATATTATACATAATATATAATACATGTATTATATATTATACATAATA TATAATACATGTATTATATATTATACATAATATATAATACATGTATTATA TATTATACATAATATATAATACATGTATTATATATTATACATAATATATA ATACATGTATTATATATTATACATAATATATAATACATGTATTATA	FMN1	ENSG00000248905.10	transcript	ENST00000616417.5	protein_coding	19/20			chr15	TogoVar
FTCD_chr21_46131779_46160579	46144485	T T	TCCCCTTT others(715): Show TCCCCTTTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCT CTCTCCCCCCTCTCCCTCCCCTTTCCCCCCTCTCCCTCCCTCCCCTCTCT CCCCCCTCTCCCTCCCTCCCCTCTCTCCCCCCTCTCCCTCCCTCCCCTTC CCCCCTCTCCCTCCCTACCCTCTCTCCCCCCTCTCCCTCCCTCCCCTCAC CCCCCTCCCTCCCCTCTCTTCCCTCTCCCCCTCTCTCTCCCTCCCTCTCC CTCCCCCTCCCTCCCTCTCCCTCTCTCCCCCCTCCCCCTCTCCCTCTTTC TCCTTCCCGCTCCCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTTTCT CCTTCCCGCTCCCTCTCTCCCCTTTCTCCCTCTCTCTCCCTCCCCCTCCC TCTCTCCCCTCTCTCCATCCTCCCCTCTCTTCCTCCCTGTCTCCCCCTCT CCCCCCCTCTCCTTCTCTCCCCCCTCTCCCTCTCCCCCCTCCCTCTCTCC CCCTGCCCTCTCTCCCCCCCCTCTCTCCCCCCTCCCCCTCTTCCCCTCCC TCTCTCCCCCTCCTTCTCCCTCTCTCCCCACCTCCTTCTCCCTCTCTCCC CCCCTTTCCCTCCCTCTCCCTCTCTCTCCCTCTCCCCCCTCCCCCTCTCC CTCTCCCCCTCCCTCTTTCCCCCCTTTCCTTCCTCCCCTCTCTCCCACCC TCTGTCCCCCTCTCCCTGTCTCC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01975.hp1 HG03704.hp2 others(1): Show HG01256.hp1 HG01975.hp1 HG03704.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0152 a0001c0002t0001g0173 a0001c0002t0001g0175 others(1): Show a0001c0002t0001g0152 a0001c0002t0001g0173 a0001c0002t0001g0175 a0001c0003t0003g0174	4	230	0.0174	722	c.126 others(739): Show c.1260+931_1260+932insGGAGACAGGGAGAGGGGGACAGAGGGTG GGAGAGAGGGGAGGAAGGAAAGGGGGGAAAGAGGGAGGGGGAGAGGGAGA GGGGGAGGGGGGAGAGGGAGAGAGAGGGAGAGGGAGGGAAAGGGGGGGAG AGAGGGAGAAGGAGGTGGGGAGAGAGGGAGAAGGAGGGGGAGAGAGGGAG GGGAAGAGGGGGAGGGGGGAGAGAGGGGGGGGAGAGAGGGCAGGGGGAGA GAGGGAGGGGGGAGAGGGAGAGGGGGGAGAGAAGGAGAGGGGGGGAGAGG GGGAGACAGGGAGGAAGAGAGGGGAGGATGGAGAGAGGGGAGAGAGGGAG GGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGAGGGAGCGGGAAGGAGAAA GGGGGAGGGAGAGAGAGGGAGAAAGGGGAGAGGGAGCGGGAAGGAGAAAG AGGGAGAGGGGGAGGGGGGAGAGAGGGAGAGGGAGGGAGGGGGAGGGAGA GGGAGGGAGAGAGAGGGGGAGAGGGAAGAGAGGGGAGGGAGGGGGGTGAG GGGAGGGAGGGAGAGGGGGGAGAGAGGGTAGGGAGGGAGAGGGGGGAAGG GGAGGGAGGGAGAGGGGGGAGAGAGGGGAGGGAGGGAGAGGGGGGAGAGA GGGGAGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAGAGAGGGG AGGGAGGGAGAGGGGGGAAAGGGGAGGGAGAGGGGGGAAAGGGG	FTCD	ENSG00000160282.15	transcript	ENST00000397746.8	protein_coding	10/13			chr21	TogoVar
GAS6_chr13_113815549_113869076	113841676	T T	TTCCATAC others(715): Show TTCCATACACCCCACAGTTTCTTCCATACGCCCCACAGTTTCCTCCATAT GCCCAGTTTCCTCCATACACCCCACAGTTTCCTCCATATGCCTCAATTTC CTCCATACGCCCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCCATAT GCCCAGTTTCCTCCATACACCCCAGTTTCCTCCATATGCCTCAATTTCCT CCATACGCCCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCCATACAC CCCACAGTTTCCTCCATATGCCCAGTTTCCTCCATACACCCCACAGTTTC CTCCATATGCCTCAATTTCCTCCATATGCCCCCCAGTTTCTTCCATACAC CCCACAGTTTCCTCCATACGCCCCACAGTTTCCTCCATATGCCCAGTTTC TTCCATACGCCCCACAGTTTCCTCCATATGCCTCAATTTCCTCCATACGC CCCCCAGTTTCTTCCATACACCCCACAGTTTCCTCCATACGCCCCACAGT TTCCTCCATATGCCCAGTTTCTTCCATACGCCCCACAGTTTCCTCCATAT GCCTCAATTTCCTCCATACGCCCCCCAGTTTCTTCCATACACCCCACAGT TTCCTCCATACACCCCACAGTTTCCTCCATATGCCCAGTTTCCTCCATAC ACCCCACAGTTTCCTCCATATGCCTCAATTTCCTCCATACGCCCCCCAGT TTCTTCCATACACCCCAGTTTCC	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0004 a0001c0003t0005g0004	1	143	0.0070	722	c.344 others(739): Show c.344-1827_344-1826insGGAAACTGGGGTGTATGGAAGAAACTGG GGGGCGTATGGAGGAAATTGAGGCATATGGAGGAAACTGTGGGGTGTATG GAGGAAACTGGGCATATGGAGGAAACTGTGGGGTGTATGGAGGAAACTGT GGGGTGTATGGAAGAAACTGGGGGGCGTATGGAGGAAATTGAGGCATATG GAGGAAACTGTGGGGCGTATGGAAGAAACTGGGCATATGGAGGAAACTGT GGGGCGTATGGAGGAAACTGTGGGGTGTATGGAAGAAACTGGGGGGCGTA TGGAGGAAATTGAGGCATATGGAGGAAACTGTGGGGCGTATGGAAGAAAC TGGGCATATGGAGGAAACTGTGGGGCGTATGGAGGAAACTGTGGGGTGTA TGGAAGAAACTGGGGGGCATATGGAGGAAATTGAGGCATATGGAGGAAAC TGTGGGGTGTATGGAGGAAACTGGGCATATGGAGGAAACTGTGGGGTGTA TGGAGGAAACTGTGGGGTGTATGGAAGAAACTGGGGGGCGTATGGAGGAA ATTGAGGCATATGGAGGAAACTGGGGTGTATGGAGGAAACTGGGCATATG GAGGAAACTGTGGGGTGTATGGAAGAAACTGGGGGGCGTATGGAGGAAAT TGAGGCATATGGAGGAAACTGTGGGGTGTATGGAGGAAACTGGGCATATG GAGGAAACTGTGGGGCGTATGGAAGAAACTGTGGGGTGTATGGA	GAS6	ENSG00000183087.15	transcript	ENST00000327773.7	protein_coding	4/14			chr13	TogoVar
GPR173_chrX_53043789_53085615	53073903	A A	ATATAAAT others(715): Show ATATAAATATATATATTTATATTTATTTATATATATAAATATATATATTT ATATTTATTTATATATATAAATATATATATTTATATTTATATATATATAA ATATATATATTTATATATATATATAAATATATATATTTATATTTATATAT ATATATTTATATTTTTATATATATATATATTTATATTTATATATATATAA ATATATATATTTATATTTATTTATATATATATAAATATATATATTTATAT TTATATATATAAATATATATATTTATATTTATATATATAAATATATATAT TTATATTTATATATATAAATATATATATTTATATTTATATATATAAATAT ATATATTTATATTTATATATATAAATATATATATTTATATTTATATATAT AAATATATATATTTATATTTATATATATAAATATATATATTTATATATAT AAATATATATATTTATATTTATTTATATATATAAATAAATATAAATATAT ATATTTATATATAAATATATATATTTATATATAAATATATATATTTATAC ATATAAATATATATATTTATATATATAAATATATATATTTATATATATTT ATATTTATAAATATATATATTTATATGTATAAATATATATATTTATATAT ATATTTATATTTATATATATTTATATATATAAATATATATTTATATATAT ATATAAATATATATTTATATATT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0062 a0001c0001t0013g0062	1	208	0.0048	722	c.-97 others(739): Show c.-97-2618_-97-2617insAATATATATATTTATATTTATTTATATA TATAAATATATATATTTATATTTATTTATATATATAAATATATATATTTA TATTTATATATATATAAATATATATATTTATATATATATATAAATATATA TATTTATATTTATATATATATATTTATATTTTTATATATATATATATTTA TATTTATATATATATAAATATATATATTTATATTTATTTATATATATATA AATATATATATTTATATTTATATATATAAATATATATATTTATATTTATA TATATAAATATATATATTTATATTTATATATATAAATATATATATTTATA TTTATATATATAAATATATATATTTATATTTATATATATAAATATATATA TTTATATTTATATATATAAATATATATATTTATATTTATATATATAAATA TATATATTTATATATATAAATATATATATTTATATTTATTTATATATATA AATAAATATAAATATATATATTTATATATAAATATATATATTTATATATA AATATATATATTTATACATATAAATATATATATTTATATATATAAATATA TATATTTATATATATTTATATTTATAAATATATATATTTATATGTATAAA TATATATATTTATATATATATTTATATTTATATATATTTATATATATAAA TATATATTTATATATATATATAAATATATATTTATATATTTATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53073906	T T	TATATAAA others(715): Show TATATAAATATATATATTTATATTTATTTATATATATAAATATATATATT TATATTTATTTATATATATAAATATATATATTTATATTTATATATATATA TAAATATATATATTTATATATATATATAAATATATATATATATATTTATT TATATATATAAATATATATATTTATATTTATTTATATATATATAAATATA TATATTTATATTTATATTTATATATTTATATTTATATATATAAATATATA TATTTATATTTATTTATATATATAAATATATATATTAATATATATTTATA TATATAAATATATATATTTATATATAAATATATATTTATGTATATTTATA TATAAATATATATATTTATATATATAAATATATATATTTATATATAAATA TATATATTTATATATAAATATATATATTTATATATAAATATATATATTTA TATATAAATATATATATAAATATATATATTTATATATAAATATATATATT TATATATATATTTATATATAAATATATATATTTATATATAAATATATATA TTTATATATATAAATATATATATTTATATATATAAATATATATATATTTA TATTTACAAATATATATATTTATATATATATTTATATTTATATATATTTA TATTTATATATATATATATAAATATATATTTATGTATATTTATATATAAA TATAAATATATATTTATATATAA	intron_variant intron_variant	MODIFIER	NA19060.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	208	0.0048	722	c.-97 others(739): Show c.-97-2605_-97-2604insATTTATATTTATTTATATATATAAATAT ATATATTTATATTTATTTATATATATAAATATATATATTTATATTTATAT ATATATATAAATATATATATTTATATATATATATAAATATATATATATAT ATTTATTTATATATATAAATATATATATTTATATTTATTTATATATATAT AAATATATATATTTATATTTATATTTATATATTTATATTTATATATATAA ATATATATATTTATATTTATTTATATATATAAATATATATATTAATATAT ATTTATATATATAAATATATATATTTATATATAAATATATATTTATGTAT ATTTATATATAAATATATATATTTATATATATAAATATATATATTTATAT ATAAATATATATATTTATATATAAATATATATATTTATATATAAATATAT ATATTTATATATAAATATATATATAAATATATATATTTATATATAAATAT ATATATTTATATATATATTTATATATAAATATATATATTTATATATAAAT ATATATATTTATATATATAAATATATATATTTATATATATAAATATATAT ATATTTATATTTACAAATATATATATTTATATATATATTTATATTTATAT ATATTTATATTTATATATATATATATAAATATATATTTATGTATATTTAT ATATAAATATAAATATATATTTATATATAAATATAAATATATAT	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
GPR173_chrX_53043789_53085615	53074115	T T	TATATATA others(715): Show TATATATAAATATATAAATATACATTTATATATAAATATATAAATATACA TTTATATATAAATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATTTATATATAAATATATATAAATATACATTTATATATAAA TATATATAAATATACATTTATATATAAATATATATAAATATACATTTATA TATAAATATATATAAATATACATTTATATATAAATATATATAAATATACA TTTATATATAAATATATATAAATATACATGTATATTTATTCATATATAAA TATATATAAATATACATGTATATTTATTCATATATAAATATATATAAATA TACATGTATATTTATTCATATATAAATATATATAAATATACATGTATATT TATTCATATATAAATATATATAAATATACATGTATATTTATTCATATATA AATATATATAAATATACATGTATATTTATTCATATATAAATATATATAAA TATACATGTATATTTATTCACATATAAATATATATAAATATACATGTATA TTTATTCACATATAAATATATATAAATATACATGTATATTTATTCACATA TAAATATATATAAATATACATGTATATTTATTCACATATAAATATATATA AATATACATGTATATTTATTCAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0062 a0001c0003t0062	a0001c0003t0062g0042 a0001c0003t0062g0042	1	208	0.0048	722	c.-97 others(739): Show c.-97-2405_-97-2404insTAAATATATAAATATACATTTATATATA AATATATAAATATACATTTATATATAAATATATAAATATACATTTATATA TAAATATATATAAATATACATTTATATATAAATATATATAAATATACATT TATATATAAATATATATAAATATACATTTATATATAAATATATATAAATA TACATTTATATATAAATATATATAAATATACATTTATATATAAATATATA TAAATATACATTTATATATAAATATATATAAATATACATTTATATATAAA TATATATAAATATACATTTATATATAAATATATATAAATATACATGTATA TTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATATA TAAATATATATAAATATACATGTATATTTATTCATATATAAATATATATA AATATACATGTATATTTATTCATATATAAATATATATAAATATACATGTA TATTTATTCATATATAAATATATATAAATATACATGTATATTTATTCATA TATAAATATATATAAATATACATGTATATTTATTCACATATAAATATATA TAAATATACATGTATATTTATTCACATATAAATATATATAAATATACATG TATATTTATTCACATATAAATATATATAAATATACATGTATATTTATTCA CATATAAATATATATAAATATACATGTATATTTATTCACATATA	GPR173	ENSG00000184194.6	transcript	ENST00000332582.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chrX	TogoVar
INPP5A_chr10_132532787_132788480	132775124	G G	GGAGAGAG others(715): Show GGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGAGAGGAGGGGCAGGGAGAG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGGGGGG CAGGGAGGAGGGACAGGGAGGAGAGAGGGGCAGGGGGGAGGGGCAGGGAG GAGAGACAGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAG AGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAGAGGGGCA GGGAGGACGGGCAGGGAGGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGA GGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGG GCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGCA GGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGA GAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGCAGGGAGGAGAG AGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGG GGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGCAGGGAGGAGAGAGGGGC AGGGAGGAGGGGCAGGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03130.hp2 HG02258.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0092 a0001c0001t0001g0004 a0001c0001t0001g0092	2	204	0.0098	722	c.978 others(739): Show c.978-2544_978-2543insAGAGGGGCAGGGAGGAGAGAGGGGCAGA GAGGAGGGGCAGGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAG GGGCAGGGAGGAGGGGGGCAGGGAGGAGGGACAGGGAGGAGAGAGGGGCA GGGGGGAGGGGCAGGGAGGAGAGACAGGCAGGGAGGAGGGGCAGGGAGGA GAGATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAG ATGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAAACGGGC AGGGAGGAGAGAGGGGCAGGGAGGACGGGCAGGGAGGAGGGGCAGGGAGG AGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGG GGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGGC AGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAGGGGCAGG GAGGAGGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGA AACGGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAT GGGCAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGATGGG CAGGGAGGAGAGAGGGGCAGGGAGGAGGGGCAGGGAGGAGAGAG	INPP5A	ENSG00000068383.19	transcript	ENST00000368594.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr10	TogoVar
INSR_chr19_7107265_7299414	7153367	C C	CCACACAC others(715): Show CCACACACACCACACACCACACACACCAAACACACCATACATGCACCACA CACACACCACATGCACACCTCACACACCATACCACACACCACACACACCA CACAAATCACACACATACTACACACACCCACGCCACACACCACACACACA CCACACACGCCACACAACGGACCACACATACACCACACACCACAAACACA ACCACACACACACTATACACACACACCACACACACCACACAACAGACCAC ACATACACACACCACACACCACAAACACACACCATACACACACACCACAC ATACCACACACACCACACACACAACCACACACACACACCACACACACAAC ACACAACAGACCACACATACACACACCACAAACACAACCACACACACCAC ACATACCACACACACACCACACACGCCACACAACGGACCACACATACACC ACACACCACAAACACAACCACACACACACTATACACACACACCACACACA CCACACAACAGACCACACATACACACACCACACACCACAAACACACACCA TACACACACACCACACATACCACACACACCACACACACAACCACACACAC ACACCACACACACAACACACAACAGACCACACATACACACACCACAAACA CAACCACACACACCACACATACCACACACACACCACACACACAACCACAC ACACCACACCATACACACAACCA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0122 a0001c0008t0122	a0001c0008t0122g0095 a0001c0008t0122g0095	1	300	0.0033	722	c.203 others(739): Show c.2030-441_2030-440insTGGTTGTGTGTATGGTGTGGTGTGTGTG GTTGTGTGTGTGGTGTGTGTGTGGTATGTGTGGTGTGTGTGGTTGTGTTT GTGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGTGTGTGTGGTGTGTGTG TGTGGTTGTGTGTGTGGTGTGTGTGGTATGTGTGGTGTGTGTGTATGGTG TGTGTTTGTGGTGTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGGTGTGT GTGGTGTGTGTGTATAGTGTGTGTGTGGTTGTGTTTGTGGTGTGTGGTGT ATGTGTGGTCCGTTGTGTGGCGTGTGTGGTGTGTGTGTGGTATGTGTGGT GTGTGTGGTTGTGTTTGTGGTGTGTGTATGTGTGGTCTGTTGTGTGTTGT GTGTGTGGTGTGTGTGTGTGGTTGTGTGTGTGGTGTGTGTGGTATGTGTG GTGTGTGTGTATGGTGTGTGTTTGTGGTGTGTGGTGTGTGTATGTGTGGT CTGTTGTGTGGTGTGTGTGGTGTGTGTGTATAGTGTGTGTGTGGTTGTGT TTGTGGTGTGTGGTGTATGTGTGGTCCGTTGTGTGGCGTGTGTGGTGTGT GTGTGGTGTGTGGCGTGGGTGTGTGTAGTATGTGTGTGATTTGTGTGGTG TGTGTGGTGTGTGGTATGGTGTGTGAGGTGTGCATGTGGTGTGTGTGTGG TGCATGTATGGTGTGTTTGGTGTGTGTGGTGTGTGGTGTGTGTG	INSR	ENSG00000171105.14	transcript	ENST00000302850.10	protein_coding	9/21			chr19	TogoVar
INS_chr11_2154779_2166209	2161833	G G	GGACCCCT others(715): Show GGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT ATCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAGGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTATCCCCACACCCCTGTCCCCAGACCCCTG TCCCCACACCCCTGTCCCCAGGACCCCTGTCCCTACACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACAC CCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCC CCCGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCCGGACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACC CCTGTCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCC CCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAGACCC CTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCC CGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCC TGTCCCCACACCCCTGTCCCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20752.hp1 homoSapiens_chm13v2.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	2	376	0.0053	722	c.-68 others(731): Show c.-684_-683insGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGAC AGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTG TGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGGACA GGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTG GGGACAGGGGTCCGGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAG GGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTG GGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGG GGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGG GACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGG TGTAGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGTCTGGGG ACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CCTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC	INS	ENSG00000254647.7	transcript	ENST00000381330.5	protein_coding		625		chr11	TogoVar
LMF1_chr16_848634_975984	859824	T T	TCGGGACG others(715): Show TCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCG GGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCACGTGAC GGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCACGGGACGGG TGTGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGC GAGTGGTGTCTCGGGACGGGTGCGAGTGGTTTCACGGGAGGGGTGCGAGT GGTGTCACGGGAGGGGTGCGAGTGGTGTCTCGGGACGGGTGTGAGTGGTG TCTCGGGACGGGTGCGAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTC GGGACGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCTCGGGA CGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGG GTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGT GAGTGGTGTCACGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGAGT GGTGTCTCGGGGTGGGTGTGAGTGGTGTCTCGGGGTGGGTGTGCAGTGGT GTCTCGGGATGGGTGTGCAGTGGTGTCTCGGGGTGGGTGTGCAGTGGTGT CTCGGGGTGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGCAGTGATGTCA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0001 a0001c0020t0001	a0001c0020t0001g0099 a0001c0020t0001g0099	1	294	0.0034	722	c.153 others(741): Show c.1530-5119_1530-5118insTGACATCACTGCACACCCATCCCGAG ACACCACTCACACCCATCCCGAGACACCACTGCACACCCACCCCGAGACA CCACTGCACACCCACCCCGAGACACCACTGCACACCCATCCCGAGACACC ACTGCACACCCACCCCGAGACACCACTCACACCCACCCCGAGACACCACT CACACCCACCCCGAGACACCACTCACACCCACCCCGTGACACCACTCACA CCCGTCCCGAGACACCACTCACACCCGTCCCGAGACACCACTCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCC CGAGACACCACGCACACCCGTCCCGAGACACCACGCACACCCGTCCCGAG ACACCACTCGCACCCGTCCCGTGACACCACTCGCACCCGTCCCGAGACAC CACTCACACCCGTCCCGAGACACCACTCGCACCCCTCCCGTGACACCACT CGCACCCCTCCCGTGAAACCACTCGCACCCGTCCCGAGACACCACTCGCA CCCGTCCCGAGACACCACTCGCACCCGTCCCGTGACACCACTGCACACCC GTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTCACACCCGTC ACGTGACACCACTCACACCCGTCCCGTGACACCACTCACACCCGTCCCGA GACACCACTCACACCCGTCCCGTGACACCACTGCACACCCGTCCCG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LUC7L_chr16_183990_234449	186952	G G	GGAGGAAC others(715): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGGAACAGCGTCACGGGAGGAACAGCGACACGGGGGAGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACG GGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCG ACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAA CAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGA ACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGG GGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACAGCGAC ACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGGGAACA GCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGG GGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGG GAGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	350	0.0029	722	c.22 others(733): Show c.2245_*2246insTCCCTCCCGTGTCGCTGTTCCTCCCCGTGTCGCT GTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGC TGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCG CTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCG TGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCCCGTGTCG CTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCC CGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTC CCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTC GCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCGTGACGCTGTTCCCCCCGTGTCGCTGTTCCTC CCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2037		chr16	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(715): Show AAGGGGGGAAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGG AGGGGGAAGGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGG GGGAGGGGGAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCGGGGGGAAGGG GGGAAAGGGGTGGGGGGAAGGGGGGAAGGGGAAAGGGGTGAGGGGAAGGG GGGAAGGGGGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGAGGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGGAGGGGGG AGGGGAGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAGGGGAGGGGGGAG GGGAGGGGGGAGGGGAGGGGGGAGGGGAGGGGGGAGGGGGAGGGTAGGGG GGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGGAGGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGGAGTG GAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGAGGGGGAGGGGGAGGG AGGGGAGGGGAGGGGGAGGGGGAGGGAAGGGAGGGAGGGGGAGGGGGAGG GAGGGGAGGGGAAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0200 a0002c0002t0004g0200	1	272	0.0037	722	c.250 others(737): Show c.250+581_250+582insCCACCCTCCCTTCCCCTCCCCTCCCTCCCC CTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCTCCCCTCCCTCCC CCTCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACTCCC CTCCCCTCCCTCCCCCTCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTAC CCTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCC CTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCT CCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCTCCCCCTCCATCCTCCCCTCACCCCTTTCCCCCTTCCCCCCTTCC CCTCACCCCTTTCCCCTTCCCCCCTTCCCCCCACCCCTTTCCCCCCTTCC CCCCGCCCCTTTTCCCCCCTTCCCCGCCCCTTTTCCCCCTCCCCCTGCCC CTCCCCTTCTCCCCTCCCCCTTTCCGCCTTCCTCCTTCCCCCTCCTTCCC CCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCCTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MOGAT3_chr7_101190007_101206036	101191958	G G	GGGAGGCC others(715): Show GGGAGGCCAAGGCAGGTAGATCGCTTGAGGCCAGGAATTAGAGACCAGCC TGGCCAACATGGTGAAACCCCATCTCCACAAAAAATACCAAAATTATCTG GGTGTGGTGGCACATCCCTGTAGTCCCAGCTACTCGGGAGGCTGAGAGGC TGAGGCAGGAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCCG AGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGACTCCGTCTT AAAAAAAAAGAACCCATGGATTGAAACATGTTTAATGTGTTTCAATCCAA TGCAGTTGCCTTTTTTTTTTTTTTTTTTCTCAGACGGAGTCTCGCTCTGT CGCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCC TCCCGGGTTCAAGCAATTCTCTTGCTTCAGCCTTCCGAGTAGCTGAGACT ACAGGCGCACACCACCACACCCAGCTGATTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTCGTGAT CCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATCG CGCCCAGCCTGCTGTTGCCTTTCTTACTGATGCTCAAGTTATTTAATTTT TGGATAAATTGCTGTTTTAAAGCATTACAGAGGGCCAGGTGCGGTGGCTC ACACCTGTAATCCCAGCACTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02647.hp1 HG02717.hp1 HG01243.hp1 HG02647.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0044 a0001c0001t0009g0108 a0001c0001t0009g0044 a0001c0001t0009g0108	3	438	0.0069	722	c.39 others(733): Show c.3987_*3988insTAAAGTGCTGGGATTACAGGTGTGAGCCACCGCA CCTGGCCCTCTGTAATGCTTTAAAACAGCAATTTATCCAAAAATTAAATA ACTTGAGCATCAGTAAGAAAGGCAACAGCAGGCTGGGCGCGATGGCTCAC ACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACGAGGTC AAGAGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAA AAATACAAAAATCAGCTGGGTGTGGTGGTGTGCGCCTGTAGTCTCAGCTA CTCGGAAGGCTGAAGCAAGAGAATTGCTTGAACCCGGGAGGCGGAGGTTG CAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGCGACAGAGCGAGA CTCCGTCTGAGAAAAAAAAAAAAAAAAAAGGCAACTGCATTGGATTGAAA CACATTAAACATGTTTCAATCCATGGGTTCTTTTTTTTTAAGACGGAGTC TGGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACTGC AACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCTCAGCC TCCCGAGTAGCTGGGACTACAGGGATGTGCCACCACACCCAGATAATTTT GGTATTTTTTGTGGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCT AATTCCTGGCCTCAAGCGATCTACCTGCCTTGGCCTCC	MOGAT3	ENSG00000106384.12	transcript	ENST00000223114.9	protein_coding		3048		chr7	TogoVar
MROH1_chr8_144143016_144266926	144218788	T T	TCTGCTCT others(715): Show TCTGCTCTCCCCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCTCT CTTCCCTCCCCTCCCCTCTCCCCTCCCGTCTCCCCTCCCGTCTCCCCTCC CCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCTCC CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCTCCCCTCCCCTC CCCTCCTCCCCTCCTCCTCTCCCCTCCCCTCCCCTCTCCCCTCCCCTCCC CCTCTCCCCTCCCCTCCCCTCCTCCTCTCCCCTCCCCTCCTCCCCTCCCC TCTCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCCCATCCCCTCCT CCCCTCCCCTCCCCCCTCCTCCC	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0054 a0001c0002t0001g0054	1	140	0.0071	722	c.114 others(741): Show c.1142-1810_1142-1809insGCTCTCCCCTCCCCTCCCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTTCCCTCCCCTC CTCTCTTCCCTCCCCTCCTCTCTTCCCTCCCCTCCCCTCTCCCCTCCCGT CTCCCCTCCCGTCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCT CCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCT CCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCTCCCCTCCCCTCCTCCCCTC CTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCTCCTCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCCCTCTCCCCTCCCCTCCCCTCCTCCTCTC CCCTCCCCTCCTCCCCTCCCCTCTCCTCCTCCCCTCCCCTCTCCTCCTCC CCTCCCCTCCCATCCCCTCCTCCCCTCCCCTCCCCCCTCCTCCCCT	MROH1	ENSG00000179832.18	transcript	ENST00000326134.10	protein_coding	12/43		INFO_REALIGN_3_PRIME	chr8	TogoVar
MRPL28_chr16_361969_375538	370322	C C	CCCCCGGC others(715): Show CCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCC GGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCA CCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCGGCCCCGGC TCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0111 a0001c0001t0004g0111	1	394	0.0025	722	c.-7- others(733): Show c.-7-98_-7-97insCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG	MRPL28	ENSG00000086504.18	transcript	ENST00000199706.13	protein_coding	1/5			chr16	TogoVar
MUSK_chr9_110663791_110811558	110690451	A A	AATATATA others(715): Show AATATATATATTTCAATATAAGTATATATAAATATATATATTTCAATATA AGTATATATAAATATATATATTTCAATATAAGTATATATAAATATATATA TTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATGTATA TAAATATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAA TATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAA TATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATA AGTATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATA TATTTCAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATG TATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATT TCAATATAAGTATGTATAAATATATATATTTCAATATAAGTATGTATAAA TATATATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATA AGTATATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATA TATATTTCAATATAAGTATATATAAAAATATATATATTTAAATATAAGTA TATATAAAAATATATATATTTAAATATAAGTATATATAAAAATATATATA TTTAAATATAAGTATATATAAAT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	326	0.0031	722	c.358 others(739): Show c.358+3191_358+3192insATTTCAATATAAGTATATATAAATATAT ATATTTCAATATAAGTATATATAAATATATATATTTCAATATAAGTATAT ATAAATATATATATTTCAATATAAGTATATATAAATATATATATTTCAAT ATAAGTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAAT ATATATATTTCAATATAAGTATGTATATAAATATATATATTTCAATATAA GTATGTATATAAATATATATATTTCAATATAAGTATGTATATAAATATAT ATATTTCAATATAAGTATATAAAAATATATATATTTCAATATAAGTATAT ATAAAAATATATATATTTCAATATAAGTATGTATAAAAATATATATATTT CAATATAAGTATGTATAAAAATATATATATTTCAATATAAGTATGTATAA AAATATATATATTTCAATATAAGTATGTATAAATATATATATTTCAATAT AAGTATGTATAAATATATATATTTCAATATAAGTATATATAAAAATATAT ATATTTCAATATAAGTATATATAAAAATATATATATTTCAATATAAGTAT ATATAAAAATATATATATTTCAATATAAGTATATATAAAAATATATATAT TTAAATATAAGTATATATAAAAATATATATATTTAAATATAAGTATATAT AAAAATATATATATTTAAATATAAGTATATATAAATATATATAT	MUSK	ENSG00000030304.15	transcript	ENST00000374448.9	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr9	TogoVar
NFATC1_chr18_79390930_79534323	79494355	G G	GCCCCCCA others(715): Show GCCCCCCATCAACCTGGTGCGGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATCGACCTGGTGCGGCCGGGGGAAAGCGAGAACGGGCACACGCCC CCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATGAACCTGGTACCGCCGGGGGAAAGCGAGAGCGGGCACACGCCCCCCA TCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATC AACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAA CCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACC TGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTG GTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGT ACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATGAACCTGGTAC CGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTGTGG CCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCCATCGACCTGGTGTGGC CGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCGACCTGGTACCGCCG GGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAACCTGGTGTGGCCGGG GGAAGGCGAGAGCGGGCACACGC	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01517.hp2 HG02486.hp2 others(4): Show HG00733.hp2 HG01517.hp2 HG02486.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0027 a0001c0029 a0001c0053 others(1): Show a0001c0027 a0001c0029 a0001c0053 a0003c0007	a0001c0027t0008 a0001c0029t0004 a0001c0053t0003 others(1): Show a0001c0027t0008 a0001c0029t0004 a0001c0053t0003 a0003c0007t0008	a0001c0027t0008g0030 a0001c0029t0004g0096 a0001c0029t0004g0098 others(4): Show a0001c0027t0008g0030 a0001c0029t0004g0096 a0001c0029t0004g0098 a0001c0053t0003g0180 a0003c0007t0008g0020 a0003c0007t0008g0029 a0003c0007t0008g0031	7	322	0.0217	722	c.278 others(741): Show c.2782+7427_2782+7428insAACCTGGTGCGGCCGGGGGAAGGCGA GAGCGGGCACACGCCCCCCATCGACCTGGTGCGGCCGGGGGAAAGCGAGA ACGGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAGGCGAGAGC GGGCACACGCCCCCCATGAACCTGGTACCGCCGGGGGAAAGCGAGAGCGG GCACACGCCCCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGC ACACGCCCCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCAC ACGCCCCCCATCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACAC GCCCCCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGC CCCCCATCGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCC CCCATCAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCC CATGAACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCA TCAACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCCAT CGACCTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCG ACCTGGTACCGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCATCAAC CTGGTGTGGCCGGGGGAAGGCGAGAGCGGGCACACGCCCCCCCATC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding	9/9		INFO_REALIGN_3_PRIME	chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(715): Show CTGTATATATGTACAGCATGTATACTGTATATATGTACAGCATGTATACT GTGTACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATGTA TACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTATA TATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTATA TATACACAGTATGTATACTGCATACAGTATGTATACTGTATACATACTGC ATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATA CATACTGCATGCAGTATGTATACTGTATATATACACTATACAGTATGTAT ACTGTATATATACACTATACAGTATGTATACTGTATATATACACAATACA GTATGTATACTGTATATATACACAATACAGTATGTATACTGTATATATAC ACAATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGT ATATATACACAATACAGTATGTATACTGTATATATACACACAGTATGTAT ACTGTATATATACACACAGTATGTATACTGTATATATACACACAGTATGT ATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0006 a0002c0006t0006	a0002c0006t0006g0095 a0002c0006t0006g0095	1	362	0.0028	722	c.-75 others(741): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTGTGTATATATACAGTATACATACTGTATTGTGTATATATACA GTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTA TATATACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGT ATTGTGTATATATACAGTATACATACTGTATAGTGTATATATACAGTATA CATACTGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTAT ACAGTATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCA GTATGTATACAGTATACATACTGTATGCAGTATACATACTGTGTATATAT ACACAGTATACATACTGTGTATATATACGGTATACATACTGTGTATATAT ACGGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATAC GGTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGG TATACATACATACAGTATACATACATACAGTATACATACATACAGTATAC ATGCTGTATACAGTATACATGCTGTATACAGTATACATGCTGTACACAGT ATACATGCTGTACATATATACAGTATACATGCTGTACATATATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
P2RX5_chr17_3668227_3701155	3685848	C C	CCCAGCCT others(715): Show CCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCC AACGTCCCCCCGCCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCG GGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAG AACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGC CCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCA ACGTCCCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGG CCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGCCTCAGAACA GGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCA GCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACG TCCCCCGCCCCCCCGCCCAGCCTCAGAACAGGAGAACGCACAGCGGGACC CCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAGGAGAACAC ACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAGC CTCAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTC CCCCGCCCCCCGCCCAGCCTCAGAACAGGAGAACACACAGCTGGGCCCCC AGGGACCCTCCCAACGTCCCCCG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0179 a0002c0002t0001g0179	1	362	0.0028	722	c.981 others(739): Show c.981+2163_981+2164insCGGGGGACGTTGGGAGGGTCCCTGGGGG CCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGT TGGGAGGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGG GCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGTGTT CTCCTGTTCTCAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGTCC CGCTGTGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGGCGGGGGACGTTG GGAGGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGA GGGGGACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTC TGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAG CTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGA GGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCTGTTCTGAGGCTGGGCGGG GGGCGGGGGACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTGTGTTCTCCT GTTCTCAGGCTGGGAGGGGGACGTTGGGAGGGTCCCTGGGGGTCCCGCTG TGCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGGCGGGGGGACGTTGGGAG GGTCCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PAK2_chr3_196734857_196837647	196811210	C C	CCCTTCCT others(715): Show CCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTCCC TTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCC TTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTC CCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCCTTCCTT CCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCC TACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCC TCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCC CTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCTTCCTTCCCT CCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTCCCTCCCTCCTTCC CTTCCTTCCTTCCTCCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0154 a0001c0001t0011g0154	1	178	0.0056	722	c.773 others(737): Show c.773+563_773+564insTTCCCTTCCCTACCCTCCCTTCCCTCCCTT CCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC TTCCTTCCCTCCCTTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCC CTTCCTTCCCTCCCTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCC TTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTCCCTT CCTTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCC TTCCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCC CTTCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCC TTCCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCCTTCCTT CCTTCCCTTCCTTCCTTCCTTCCTTCCTTCCCTCCCTTCCTTCCCTCCCT TCCTTCCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTT CCCTTCCCTACCCTCCCTTCCCTCCCTTCCTTCCCTCCCTTCCTTCCTTC CTTCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCT TCCTTCCTTCCCTCCCTTCCTTCCCTTCCCTCCCTCCCTTCCCTCCCTTC CCTCCCTCCTTCCCTTCCTTCCTTCCTCCCTTCCTTCCTTCC	PAK2	ENSG00000180370.10	transcript	ENST00000327134.7	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PDXK_chr21_43714129_43767299	43741151	G G	GGCGGGGG others(715): Show GGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGG GGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTG GCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGG GGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGCTC GCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTCGCGGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGC GGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCG GGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGG GGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTC GCGGGGGGCTCGCGGGGGGGCTC	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0243 a0001c0001t0009g0243	1	358	0.0028	722	c.143 others(737): Show c.143-506_143-505insGGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGCTGGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGC GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTCGCGGGGGGGGCTCGCGGGGGGGCTCGCGGGGGG CTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGG CGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTC GCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGG GGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGGC TCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGC GGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCT	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PGAP6_chr16_365788_386978	370322	C C	CCCCCGGC others(715): Show CCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCCCTACCCC GGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACC CCGGCCCCCGGCTCTCACCTCCTACCCCTGCCCCCGGCTCTCACCCCCTA CCCCGGCCCCCGGCACTCACCCCCTACCCCGGCCCCCGGCTCTCACCTCC TACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGCTCTCACCC GCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCGGCTCTCAC CCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCA CCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCT CACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGC TCTCACCTCCTACCCCGGCCTCGGCTCTCACCCCCTACCCCGGCCCCGGC TCTCACCCCCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCG GCTCTCACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCC CGGCTCTCACCTCCTACCCCGGCCCCGGCTCTCACCCGCTACCCCGGCCC CCGGCTCTCACCTCCTACCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0014 a0002c0005t0014	a0002c0005t0014g0167 a0002c0005t0014g0167	1	376	0.0027	722	c.16 others(733): Show c.1664_*1665insCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTA GCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGG GTAGCGGGTGAGAGCCGGGGGCAGGGGTAGGGGGTGAGAGCCGGGGCCGG GGTAGGGGGTGAGAGCCGAGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCG GGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGC CGGGGTAGCGGGTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGG CCGGGGTAGCGGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGG GCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGG GGGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCC GGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAG CCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGGTGAG AGCCGGGGGCAGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGAGGTG AGAGCCGGGGGCCGGGGTAGGGGGTGAGTGCCGGGGGCCGGGGTAGGGGG TGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		465		chr16	TogoVar
PLCL2_chr3_16879955_17095604	17063256	T T	TCCTCCCT others(715): Show TCCTCCCTCCCTCCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTCCCTG CCTTCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTCCCTCCCTCCTCTGCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTC CCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCC TTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTC CCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCC TTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTC CCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCC TCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTC CCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCC TCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTCCCTC CCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCC TTCCTCCCTTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTCCCT CCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCC CTCCCTCCCTCCCTGCCTCCCTC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0101 a0001c0001t0001g0101	1	250	0.0040	722	c.309 others(741): Show c.3095-4693_3095-4692insCCCTCCCCTCCCTCCCTGCCTTCCTC CCTTCCTCCCTCCCTGCCTTCCTCCCTCCCTCCCTCCCTCCTCCCTCCCT CCCTCCCTCCTCTGCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTT CCTCCCTCCCTCCCTCCCTGCCTTCCTCCCTTCCTCCCTTCCTCCCTCCC TCCCTCCCTCCCTGCCTTCCTCCCTTCCTGCCTTCCTCCCTCCCTCCCTC CCTCCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTCCCTGCC TCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTC CCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTGCCTTCC TCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTGCCTTCCTC CCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTGCCTCCCTCCCTCCCTCCC TCCCTCCCTGCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTC CCTCCCTGCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCC TCCCTGCCTTCCTCCCTTCCTCCCTTCCCTCCCTCCCTCCCTCCCTCCCT GCCTTCCTCCCTCCCTCCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCC CTTCCTCCCTTCCTCCCTCCCTCCCTCCCTGCCTCCCTCCCTCCCT	PLCL2	ENSG00000154822.18	transcript	ENST00000615277.5	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
RFC1_chr4_39282456_39371362	39348422	C C	CAGAAAAG others(715): Show CAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG AAAAGAAAAGAAAAGAAAAGAAA	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	276	0.0036	722	c.132 others(739): Show c.132+2925_132+2926insTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFX2_chr19_5988164_6115500	6070181	A A	ATGGGATG others(715): Show ATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGATGGGATGG GATGGGATGGGATGGGATGGGATGTAGATGGGATGGGATGGAATGGGATG TGGATGGGATGTGATGGGATGTGGATGGGGTGGAATGAGATGTGGATGGG GTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGGATGGGGTAGGATG GGATGTGGATGGGGTGGGATGAGATGTGGATGGGATGGAAAGGGATGTGG ATAGAGTGGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGT GGATAGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGGGATGGGATGTGGATGGGATGGGATGGGATGGGATGGGA TGGGATGTGGATGGGATGGGATGGGATGTGGATGGGATGGGATGTGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGAT GGGATGGGATGTGGATAGGGTGGGATGAAACGTGGATGGGATGGAAAGGG ATGTGGATGGAGTGGGATGGGATGGGATGTGGATGGGATGGGATGGGATG GGATGGGATGGGATGGGATGGGATGGGATGGGATGTGGATGGGATGGGAT GGGATGTGAATAGGATGGGATGTGGATGGGGTGGGATGAAATGTGGATGG GATGGAAAGGGATGTGGATGGAG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	308	0.0033	722	c.-8- others(739): Show c.-8-22678_-8-22677insCTCCATCCACATCCCTTTCCATCCCATC CACATTTCATCCCACCCCATCCACATCCCATCCTATTCACATCCCATCCC ATCCCATCCACATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCC CATCCCATCCCATCCACATCCCATCCCATCCCACTCCATCCACATCCCTT TCCATCCCATCCACGTTTCATCCCACCCTATCCACATCCCATCCCATCCA CATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCC ACATCCCATCCCATCCACATCCCATCCCATCCCATCCACATCCCATCCCA TCCCATCCCATCCCATCCCATCCACATCCCATCCCATCCCATCCCATCCA CATCCCATCCCATCCCATCCCATCCCATCCCATCCCATCCTATCCACATC CCATCCCATCCCATCCACATCCCATCCCATCCCATCCCACTCTATCCACA TCCCTTTCCATCCCATCCACATCTCATCCCACCCCATCCACATCCCATCC TACCCCATCCACATCCCTTTCCATCCCATCCACATCTCATCCCACCCCAT CCACATCTCATTCCACCCCATCCACATCCCATCACATCCCATCCACATCC CATTCCATCCCATCCCATCTACATCCCATCCCATCCCATCCCATCCCATC CCATCCCATCCCATCCCATCCCATCCCATCCACATCCCATCCCA	RFX2	ENSG00000087903.13	transcript	ENST00000303657.10	protein_coding	1/17			chr19	TogoVar
SDK1_chr7_3296252_4274000	3976616	C C	CCACGCAG others(715): Show CCACGCAGACGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGG CTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAG GCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGA GGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTG AGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT GAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGC TGAGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGG CTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGG GCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGG GGCTGAGGCTGCGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATCACTGG GGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACGCAGAGGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0002 a0002	a0002c0054 a0002c0054	a0002c0054t0002 a0002c0054t0002	a0002c0054t0002g0101 a0002c0054t0002g0101	1	116	0.0086	722	c.199 others(741): Show c.1994+2071_1994+2072insCACGCAGACGGTCCTCCAGAGAATCA CTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAATC ACTGAGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCCAGAGAAT CACTGAGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGAA TCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAGA ATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGAG AATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAGA GAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCAG AGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACACAGAGGGTCCTCCA GAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTCC AGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCACGCAGAGGGTCCTC CAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCTGCCACGCAG AGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCGAGGCT GCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGC TGCCACGCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44			chr7	TogoVar
SDK1_chr7_3296252_4274000	4264582	G G	GAGGGAGG others(715): Show GAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTC TCCTGAGTGGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAAGCCGTGT GGACCTCTCCTGGGGTAAGGAAGGCCGTGTAGACCTCTCCTGAGTGAGGG AGGCTGCGTAGATCTCTCCTGAGTGGGGAGGCGGTGTGGACCTCTCCTGG GGTAAGGAAGGCCGTGTAGACCTCTCCTGAGTGAGGGAGGCCGCGTAGAC CTCTCCTGAGTGGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGGCCG CGTAGACCTCTCCTGAGTGAGGGTGGCCGCGTAGAACTCTCCTGAGTGGG GGAGGCCGCGTAGACCTCTCCTGAGTAGGGAGGCCACGTAGACCTCTCCT GAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGGCCGCGTAGACC TCTCCTGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGAGGGAGGCCGC GTAGATCTCTCCTGAGTGAGGAGGCCGTGTAGATCTCTCCTGAGTGAGGG AGGCCGTGTGGACCTCTCCTGGGGTAAGGAAGGCCGCGTGGACCTCTCCT GGGGTAAGGAAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGG ACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGG CCGCGTGGACCTCTCCTGAGTGA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03098.hp1 HG02717.hp2 HG03098.hp1	a0001 a0001	a0001c0034 a0001c0095 a0001c0034 a0001c0095	a0001c0034t0028 a0001c0095t0029 a0001c0034t0028 a0001c0095t0029	a0001c0034t0028g0097 a0001c0095t0029g0050 a0001c0034t0028g0097 a0001c0095t0029g0050	2	116	0.0172	722	c.638 others(739): Show c.6382-542_6382-541insAGGGAGGCCGCGTGGACCTCTCCTGAGT GAGGGAGGCCGCGTGGACCTCTCCTGAGTGGGGAGGCCGCGTGGACCTCT CCTGAGTGAGGGAAGCCGTGTGGACCTCTCCTGGGGTAAGGAAGGCCGTG TAGACCTCTCCTGAGTGAGGGAGGCTGCGTAGATCTCTCCTGAGTGGGGA GGCGGTGTGGACCTCTCCTGGGGTAAGGAAGGCCGTGTAGACCTCTCCTG AGTGAGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGGAGGCCGCGTAGAC CTCTCCTGAGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGAGGGTGGCCG CGTAGAACTCTCCTGAGTGGGGGAGGCCGCGTAGACCTCTCCTGAGTAGG GAGGCCACGTAGACCTCTCCTGAGTGGGGAGGCCGCGTAGACCTCTCCTG AGTGGGGAGGCCGCGTAGACCTCTCCTGAGTGGGGAGGCCGCGTAGACCT CTCCTGAGTGAGGGAGGCCGCGTAGATCTCTCCTGAGTGAGGAGGCCGTG TAGATCTCTCCTGAGTGAGGGAGGCCGTGTGGACCTCTCCTGGGGTAAGG AAGGCCGCGTGGACCTCTCCTGGGGTAAGGAAGGCCGCGTGGACCTCTCC TGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGAGGGAGGCCGCGTGG ACCTCTCCTGAGTGAGGGAGGCCGCGTGGACCTCTCCTGAGTGA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44			chr7	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAAAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0263 a0001c0003t0003g0263	1	316	0.0032	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01081.hp2 HG01496.hp2 others(13): Show HG00733.hp1 HG01081.hp2 HG01496.hp2 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02723.hp2 HG02818.hp1 HG02965.hp1 HG02976.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0003t0003	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(13): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0007g0278 a0001c0001t0007g0279 a0001c0001t0007g0280 a0001c0001t0008g0202 a0001c0001t0008g0266 a0001c0003t0003g0009 a0001c0003t0003g0255 a0001c0003t0003g0256 a0001c0003t0003g0257 a0001c0003t0003g0259 a0001c0003t0003g0261 a0001c0003t0003g0264	16	316	0.0506	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCATGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG01515.hp1 HG01517.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0009 a0001c0003t0003g0262 a0001c0003t0003g0009 a0001c0003t0003g0262	2	316	0.0063	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCATGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACAGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0118 a0001c0001t0010g0118	1	316	0.0032	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAACAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACAGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCACTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01255.hp2 HG01361.hp1 others(2): Show HG01109.hp2 HG01255.hp2 HG01361.hp1 HG01928.hp2 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0088 a0001c0001t0001g0143 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0088 a0001c0001t0001g0143 a0001c0001t0001g0163 a0001c0001t0001g0199	5	316	0.0158	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAACAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCACTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGACTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	316	0.0032	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAACAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGACTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(176): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01928.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp1 NA18955.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0005 a0001c0001 a0001c0006 a0002c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 others(6): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0006t0001 a0002c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(159): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0254 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0005g0090 a0001c0001t0005g0107 a0001c0001t0005g0138 a0001c0001t0009g0160 a0001c0001t0009g0204 a0001c0001t0010g0013 a0001c0001t0011g0196 a0001c0001t0012g0158 a0001c0001t0013g0151 a0001c0006t0001g0046 a0002c0005t0001g0073	179	316	0.5665	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAACAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAAAACAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAATAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02683.hp1 HG01099.hp2 HG02683.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0150 a0001c0001t0005g0154 a0001c0001t0005g0150 a0001c0001t0005g0154	2	316	0.0063	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAAAACAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAATAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAAAAAACAAAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0028 a0001c0004t0002g0028	1	316	0.0032	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAAAAAACAAAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC25A42_chr19_19058994_19118030	19116447	T T	TCAGCACT others(715): Show TCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACTTGAGGTCAAGGGTTC GAGACAGCCTGGCCAATATGGTGAAACCCCGTCTGTACTAAAAATACAAA AATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCCCAGCTACTCGAGAGG GTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGGAGGTTGCAGTGAGCC GAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCCGTCT CAAAAAAAAACAAAAAAAAACAAAAACATAGGTATCTTACCTGGTTGGTT GGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTTGTTTTGTTTTTTGAG ACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGCAATGGTGCAATCTCA GCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGC CTCCCGAGTAGGTGGGATCACAGGGCATGTACCACTATGCCTGGCTAATT TTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTTGGTCAGCCTGGTCTC GAACTCTCGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTGCTGG GATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTTGACTGTTTTTTTTCC TCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTCATTTGCAGGCTGGGT GCAGTGGCTCACGCCTGTTATCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	316	0.0032	722	c.55 others(733): Show c.5571_*5572insCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACT TGAGGTCAAGGGTTCGAGACAGCCTGGCCAATATGGTGAAACCCCGTCTG TACTAAAAATACAAAAATTAGCCGAGAATAGTGCTGGGCGCCTGTAATCC CAGCTACTCGAGAGGGTGAGACAGGAGAGTCTCTTGAACTTGGGAGGCGG AGGTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGTGACAG AGCAAGACTCCGTCTCAAAAAAAAACAAAAAAAAACAAAAACATAGGTAT CTTACCTGGTTGGTTGGCTGGTTTTTGTTTGTTTGTTTGTTTTTTGTTTT GTTTTGTTTTTTGAGACGGAGTTTCGCTCTTGCTGCCCAGGCTGGAGTGC AATGGTGCAATCTCAGCTCACTGCAACCTCCGCCTCCTGGGTTCAAGTGA TTCTCCTGCCTCAGCCTCCCGAGTAGGTGGGATCACAGGGCATGTACCAC TATGCCTGGCTAATTTTGTATTTTTAGTAGAGACGGAGTTTCTCCATTTT GGTCAGCCTGGTCTCGAACTCTCGACCTCAGGTGATCCACCCACCTCGGC CTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGCGCCTGGCCTAGTT GACTGTTTTTTTTCCTCCAGTCTAGCTTAGAGCTCTTTCAAGAATAGCTC ATTTGCAGGCTGGGTGCAGTGGCTCACGCCTGTTATCC	SLC25A42	ENSG00000181035.14	transcript	ENST00000318596.8	protein_coding		3418		chr19	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(715): Show AGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC AGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC TGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGG GCAGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCA CTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGG CCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCA GGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGG CACTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGG CAGGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAA GGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGG GGGGCCGGGAGGGGCAGGGAAGG	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	373	0.0027	722	c.115 others(739): Show c.1156+266_1156+267insCCTTCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCT CCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTC CCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCC CTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCC CACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCT TCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGC CCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCC CCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGC CTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCT GCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGGC CCCCCACCCAGTGCCTTCTCCGCCCTGCCCCTCCCGGCCCCCCACCCAGT GCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLC6A3_chr5_1387794_1450440	1414424	A A	AGAAGGCA others(715): Show AGAAGGCACTGGGTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGG GTGGGGGGCCTGGAGGGTCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGC AGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACT GGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCC TGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGG GAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCA CTGGGTGGGGGGCCTGGAGGGGCAGGGAAGGGAAGGCACTGGGTGGGGGG CCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCTGGAGGGGCA GGGAAGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGAGAAGG CACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGG GGCCGGGAGGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGG CAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGAGAA GGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGG GGGGCCGGGAGGGGCAGGGCGGG	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0162 a0001c0001t0001g0162	1	373	0.0027	722	c.115 others(739): Show c.1156+266_1156+267insCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCTC CGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCA CCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC TCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCCC CTCCAGGCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCC CACCCAGTGCCTTCCCTTCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCT TCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGC CCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCC CCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGC CTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTGCCCT GCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGC CCCCCACCCAGTGCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGT GCCTTCCCCGCCCTGACCCTCCAGGCCCCCCACCCAGTGCCTTC	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar

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