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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(563): Show TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGG GTGGGGTTGCCTGGGGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGG AGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGG CCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGGGGGGCCCAG CGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG GGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGTGGG GGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGGGGGGGGCCCAGCAGGGGTGGAGTTGCCTGGGGGGGGGCC CAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	422	0.0024	570	c.64 others(581): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCCCCCCC CAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCACCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCTCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCAGGCA ACCCCACCCCCGCTGGGCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCC CCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
STK24_chr13_98440185_98582107	98473274	G G	GGAGAGGA others(563): Show GGAGAGGAAAGGAAGGAGGGAGGGAGGAGGGAGGAAAGGAGGGAGGGAGG GAGGGAGGAAAGGAGGGAGGGAGGGAGGAAGGAAAGGAAGGAGGGAGGGA GGAAGGAAAGGAAGGAGGGAGGGAGGAAAGGAGGGAGGGAGGGAGGAAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGAGGGAGGAAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGG GAGGAAAGGAAGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGA AGGAGGGAGGGGGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAG GAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGAAGGAGGGA GGGGGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGG AAAGGAAGGAGGGAGGGAGGAAAGGAAGGAGGGAGGGAGGGAGGAAAGGA GGGAGGGAGGAAAGGAAGGAGGGAGGAAAGGAAGGAGGGAGGGGGGAGGA AAGGAAGGAGGGAGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0209 a0001c0001t0003g0209	1	322	0.0031	570	c.597 others(587): Show c.597+1546_597+1547insTCCCCCCCTCCCTCCTTCCTTTCCTCCC CCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTC CTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCT CCCTCCCTCCTTCCTTTCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCC TTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTT TCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTC CTCCCTCCTTCCTTTCCTCCCCCCCTCCCTCCTTCCTTTCCTCCCTCCCT CCCTCCTTCCTTTCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCCTCC TTCCTTTCCTCCCTCCCTCCCTCCTTCCTTTCCTCCCTCCCTCCTTTCCT CCCTCCCTCCCTCCTTTCCTCCCTCCCTCCTTCCTTTCCTTCCTCCCTCC CTCCTTCCTTTCCTTCCTCCCTCCCTCCCTCCTTTCCTCCCTCCCTCCCT CCCTCCTTTCCTCCCTCCTCCCTCCCTCCTTCCTTTCCTCTC	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	5/10			chr13	TogoVar
SUN1_chr7_827476_879934	868689	G G	GCAGTGCT others(563): Show GCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATTGGGGGGCAGTGCTGGTT CCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTT GGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGG GGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATTGGGGGGCAGTGCTGG TTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCTCTGTGGTG TTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGG GGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCT GGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGG TGTTGGTCGGATGGGGGGGCAGTGCTGGTTCTCTGTGGTGTTGGTCGGAT GGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTG CTGGTTCTCTGTGGTGTTGGTCGGATGGGGGGACAGTGCTGGTTCCCTGT GGTGTTGGTCGGATGGGGGGA	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0342 a0003c0003t0001g0342	1	418	0.0024	570	c.198 others(587): Show c.1981-553_1981-552insGGGGGGGCAGTGCTGGTTCCCTGTGGTG TTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATTG GGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCT GGTTCTCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGG TGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGAT GGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTG CTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCTCTGT GGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGG ATGGGGGGGCAGTGCTGGTTCTCTGTGGTGTTGGTCGGATGGGGGGACAG TGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGACAGTGCTGGTTCCCT GTGGTGTTGGTCGGATTGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTC GGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGAT	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
SUN1_chr7_827476_879934	868879	G G	GCAGTGCT others(563): Show GCAGTGCTGGTTCTCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTT CCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTT GGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGG GGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGG TTCTCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTG TTGGTCGGATGGGGGGGCAGTGCTGGTTCTCTGTGGTGTTGGTCGGATGG GGGGACAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGACAGTGCT GGTTCCCTGTGGTGTTGGTCGGATTGGGGGGCAGTGCTGGTTCCCTGTGG TGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGAT GGGGGGGCAGTGCTGGTTCTCTGTGGTGTTGGTCGGATGGGGGGGCAGTG CTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCTCTGT GGTGTTGGTCGGATGGGGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00642.hp2 HG00323.hp2 HG00642.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0361 a0003c0003t0010g0362 a0003c0003t0010g0361 a0003c0003t0010g0362	2	418	0.0048	570	c.198 others(587): Show c.1981-458_1981-457insTCTGTGGTGTTGGTCGGATGGGGGGGCA GTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCC TGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGT CGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGG CAGTGCTGGTTCTCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTC CCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCTCTGTGGTGTTG GTCGGATGGGGGGACAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGG GACAGTGCTGGTTCCCTGTGGTGTTGGTCGGATTGGGGGGCAGTGCTGGT TCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTGGTTCCCTGTGGTGT TGGTCGGATGGGGGGGCAGTGCTGGTTCTCTGTGGTGTTGGTCGGATGGG GGGGCAGTGCTGGTTCCCTGTGGTGTTGGTCGGATGGGGGGGCAGTGCTG GTTCTCTGTGGTGTTGGTCGGATGGGGGGACAGTGCTGGTTC	SUN1	ENSG00000164828.18	transcript	ENST00000401592.6	protein_coding	16/18		INFO_REALIGN_3_PRIME	chr7	TogoVar
TBC1D22A_chr22_46757650_47180693	46772292	T T	TACACATA others(563): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACATACACA TATATATGTATACACACATACACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACACACATATATATGTA TACACACACACATATATATGTATACACACACATATATATGTATACACACA CATATATATGTATACACACACATATATATGTATACACACATACATATATA TGTATACACACATACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	112	0.0089	570	c.62+ others(585): Show c.62+9445_62+9446insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACATACACATATATATGTATACACACATACACATATATATG TATACACACATACACATATATATGTATACACACATACACATATATATGTA TACACACATACACATATATATGTATACACACATACACATATATATGTATA CACACATACACATATATATGTATACACACATACACATATATATGTATACA CACACACATATATATGTATACACACACACATATATATGTATACACACACA TATATATGTATACACACACATATATATGTATACACACACATATATATGTA TACACACATACATATATATGTATACACACATACATATATATGTATACACA CATACATATATATGTATACACACATACATATATATGTATACACACATACA TATATATGTATACACACATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TECPR1_chr7_98209624_98257232	98242993	C C	CCCACCCA others(563): Show CCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCGCA CACCCACCCATCTGTCCATCTGCACACACCTTCCATCCATCCACACATAT ACCCACCTATCCATCTACCCATGCACTCACCCACCCACTCACTCACCCAT CCACACACCCACCCACACACCCATCCATCCACACACCCACCCACCCATCC ATCCACACATCCACCCACACATCCATCCATCCACCCATCCATACATCCAT CTGCACAACCACCCATCTGTCCATCTGCACATACCTTCCATTCATCCACA CATACACCCACCCACCCACTCACCCACCCATCCACACACCCATCCACCCA TCCACACACCCACCCACCCATCCATCCACACATCCACCCACACACCCATC CATCCATCCATCCGCACACCCACCCATCTGTCCATCTGCACACACCTTCC ATCCATCCACACAAACACCCACCCATCCATCCATCCACCCATCCATCCAT CCATCTGCCCACACACCCACCCATCCACCCATCCATCCACACACCCACCT ATCCATCCTTCTGCCCACACA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0010 a0003c0005t0010	a0003c0005t0010g0288 a0003c0005t0010g0288	1	346	0.0029	570	c.657 others(585): Show c.657+473_657+474insTGTGTGGGCAGAAGGATGGATAGGTGGGTG TGTGGATGGATGGGTGGATGGGTGGGTGTGTGGGCAGATGGATGGATGGA TGGGTGGATGGATGGATGGGTGGGTGTTTGTGTGGATGGATGGAAGGTGT GTGCAGATGGACAGATGGGTGGGTGTGCGGATGGATGGATGGATGGGTGT GTGGGTGGATGTGTGGATGGATGGGTGGGTGGGTGTGTGGATGGGTGGAT GGGTGTGTGGATGGGTGGGTGAGTGGGTGGGTGGGTGTATGTGTGGATGA ATGGAAGGTATGTGCAGATGGACAGATGGGTGGTTGTGCAGATGGATGTA TGGATGGGTGGATGGATGGATGTGTGGGTGGATGTGTGGATGGATGGGTG GGTGGGTGTGTGGATGGATGGGTGTGTGGGTGGGTGTGTGGATGGGTGAG TGAGTGGGTGGGTGAGTGCATGGGTAGATGGATAGGTGGGTATATGTGTG GATGGATGGAAGGTGTGTGCAGATGGACAGATGGGTGGGTGTGCGGATGG ATGGATGGATGGATGGATGGATGGATGGATGGATGGGTGG	TECPR1	ENSG00000205356.10	transcript	ENST00000447648.7	protein_coding	6/25			chr7	TogoVar
TENM4_chr11_78647829_79446030	79139749	A A	AAAATATA others(563): Show AAAATATATATTATATTTATATAAGTATATAAAATATATATTATATTTAT ATAAATATATAAAATATATATTATATTTATATAAATATATAAAATATATA TTATATTTATATAAATATATAAAATATATATTATATTTATATAAATATAT AAAATATATATTATATTTATATAAGTATATAAAATATATATTATATTTAT ATAAGTATATAAAATATATATATTTTATATAAGTATATAAAATATATATA TTTTATATAAGTATATAAAATATATATTATATTTATATAAGTATATAAAA TATATATTATATTTATATAAATATAATATATATATTATATTTATATAAAT ATATAATATATATTATATTTATATAAATATATAATATATATTATATTTAT ATAAATATATTATATATTATATTTATATAAATATATAATATATTATATTT ATATAAATATATAATATATTATATTTATATAAATATATAATATATATTAT ATTTATATAAATATATAATATATTATATTTATATAAATATATAATATATT ATATTTATATAAATATATAAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03516.hp1 NA18522.hp2 HG02280.hp1 HG03516.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0013 a0001c0002 a0001c0007 a0001c0013	a0001c0002t0062 a0001c0007t0018 a0001c0013t0032 a0001c0002t0062 a0001c0007t0018 a0001c0013t0032	a0001c0002t0062g0092 a0001c0007t0018g0093 a0001c0013t0032g0043 a0001c0002t0062g0092 a0001c0007t0018g0093 a0001c0013t0032g0043	3	94	0.0319	570	c.-66 others(587): Show c.-66+8960_-66+8961insATTATATATTTATATAAATATAATATAT TATATATTTATATAAATATAATATATTATATATTTATATAAATATAATAT ATATTATATATTTATATAAATATAATATATTATATATTTATATAAATATA ATATATTATATATTTATATAAATATAATATATAATATATTTATATAAATA TAATATATATTATATATTTATATAAATATAATATATATTATATATTTATA TAAATATAATATATATATTATATTTATATAAATATAATATATATTTTATA TACTTATATAAATATAATATATATTTTATATACTTATATAAAATATATAT ATTTTATATACTTATATAAAATATATATATTTTATATACTTATATAAATA TAATATATATTTTATATACTTATATAAATATAATATATATTTTATATATT TATATAAATATAATATATATTTTATATATTTATATAAATATAATATATAT TTTATATATTTATATAAATATAATATATATTTTATATATTTATATAAATA TAATATATATTTTATATACTTATATAAATATAATATATATTT	TENM4	ENSG00000149256.16	transcript	ENST00000278550.12	protein_coding	4/33			chr11	TogoVar
TMC6_chr17_78102397_78133755	78115879	A A	AGTGGGCA others(563): Show AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAG GGAGTGGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCCACAGGGCGAAGGGAGTGGGCACAGGAGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAG	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0104 a0002c0002t0002g0104	1	444	0.0023	570	c.227 others(589): Show c.2277+1389_2277+1390insCTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCCTTCGCCCCTGTGCCCACTCCCTTCGCCC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCC ACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTT CGCTCCTGTGCCCACTCCCTTCGCCCTGTGGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTG CCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCC CTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCC ACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCAC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMCO3_chr13_113486021_113555229	113542315	G G	GTCGCTGA others(563): Show GTCGCTGATCACTGCCATGCTTTATTACCGCTGAGATGTGTGGATGATAC GCACACGGTCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGG ATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTACCGCTGAGA TGTGTGGATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTATC GCTGAGATGTGTGGATGATACGCACATGATCGCTGATCACTGCCATGCTT TATTACCGCTGAGATGTGTGGATACCACGCACACGATTGCTGATCACTGC CATGCTTTATTACCGCTGAGTTGTGTGGATGATACGCACACGATCGCTCA TCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATACGCACACGA TCGCTCATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATACCACG CACACGATCGCTCATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGA TGATACGCACACGATCGCTGATCACTGCCATGCTTTATTACCGCCGAGAT GTGTGGATGATACGCACACGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02293.hp2 HG00280.hp1 HG02293.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0252 a0001c0006t0001g0253 a0001c0006t0001g0252 a0001c0006t0001g0253	2	368	0.0054	570	c.169 others(589): Show c.1690+2838_1690+2839insTGAGATGTGTGGATGATACGCACACG GTCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATAC GCACACGGTCGCTGATCACTGCCATGCTTTATTACCGCTGAGATGTGTGG ATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTATCGCTGAGA TGTGTGGATGATACGCACATGATCGCTGATCACTGCCATGCTTTATTACC GCTGAGATGTGTGGATACCACGCACACGATTGCTGATCACTGCCATGCTT TATTACCGCTGAGTTGTGTGGATGATACGCACACGATCGCTCATCACTGC CATGCTTTATTACCGCCGAGATGTGTGGATGATACGCACACGATCGCTCA TCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATACCACGCACACGA TCGCTCATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATACG CACACGATCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGA TGATACGCACACGATCGCTGATCACTGCCATGCTTTATTACCGC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113542315	G G	GTCGCTGA others(563): Show GTCGCTGATCACTGCCATGCTTTATTACCGCTGAGATGTGTGGATGATAC GCACACGGTCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGG ATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTACTGCTGAGA TGTGTGGATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTATC GCTGAGATGTGTGGATGATACGCACATGATCGCTGATCACTGCCATGCTT TATTACCGCTGAGATGTGTGGATACCACGCACACGATTGCTGATCACTGC CATGCTTTATTACCGCTGAGTTGTGTGGATGATACGCACACGATCGCTCA TCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATACGCACACGA TCGCTCATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATACCACG CACACGATCGCTCATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGA TGATACGCACACGATCGCTGATCACTGCCATGCTTTATTACCGCCGAGAT GTGTGGATGATACGCACACGA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0244 a0001c0006t0001g0244	1	368	0.0027	570	c.169 others(589): Show c.1690+2838_1690+2839insTGAGATGTGTGGATGATACGCACACG GTCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATAC GCACACGGTCGCTGATCACTGCCATGCTTTATTACTGCTGAGATGTGTGG ATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTATCGCTGAGA TGTGTGGATGATACGCACATGATCGCTGATCACTGCCATGCTTTATTACC GCTGAGATGTGTGGATACCACGCACACGATTGCTGATCACTGCCATGCTT TATTACCGCTGAGTTGTGTGGATGATACGCACACGATCGCTCATCACTGC CATGCTTTATTACCGCCGAGATGTGTGGATGATACGCACACGATCGCTCA TCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATACCACGCACACGA TCGCTCATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATACG CACACGATCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGA TGATACGCACACGATCGCTGATCACTGCCATGCTTTATTACCGC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMCO3_chr13_113486021_113555229	113542315	G G	GTCGCTGA others(563): Show GTCGCTGATCACTGCCATGCTTTATTACCGCTGAGATGTGTGGATGATAC GCACACGGTCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGG ATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTACTGCTGAGA TGTGTGGATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTATC GCTGAGATGTGTGGATGATACGCACATGATCGCTGATCACTGCCATGCTT TATTACCGCTGAGATGTGTGGATACCACGCACACGATTGCTGATCACTGC CATGCTTTATTACCGCTGAGTTGTGTGGATGATACGCACACGATCGCTCA TCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATACGCACACGA TCGCTCATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATACCACG CACACGATCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGA TGATACGCACACGATCGCTGATCACTGCCATGCTTTATTACCGCCGAGAT GTGTGGATGATACGCACACGA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp2 HG00621.hp1 others(10): Show HG00544.hp2 HG00558.hp2 HG00621.hp1 HG02080.hp1 NA18747.hp1 NA18943.hp1 NA18944.hp1 NA18968.hp2 NA18974.hp2 NA18990.hp1 NA19000.hp1 NA19064.hp2 NA19079.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0232 a0001c0006t0001g0233 a0001c0006t0001g0235 others(10): Show a0001c0006t0001g0232 a0001c0006t0001g0233 a0001c0006t0001g0235 a0001c0006t0001g0236 a0001c0006t0001g0237 a0001c0006t0001g0238 a0001c0006t0001g0239 a0001c0006t0001g0240 a0001c0006t0001g0241 a0001c0006t0001g0242 a0001c0006t0001g0243 a0001c0006t0001g0245 a0001c0006t0001g0251	13	368	0.0353	570	c.169 others(589): Show c.1690+2838_1690+2839insTGAGATGTGTGGATGATACGCACACG GTCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATAC GCACACGGTCGCTGATCACTGCCATGCTTTATTACTGCTGAGATGTGTGG ATGATACGCACACGGTCGCTGATCACTGCCATGCTTTATTATCGCTGAGA TGTGTGGATGATACGCACATGATCGCTGATCACTGCCATGCTTTATTACC GCTGAGATGTGTGGATACCACGCACACGATTGCTGATCACTGCCATGCTT TATTACCGCTGAGTTGTGTGGATGATACGCACACGATCGCTCATCACTGC CATGCTTTATTACCGCCGAGATGTGTGGATGATACGCACACGATCGCTCA TCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATACCACGCACACGA TCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGATGATACG CACACGATCGCTGATCACTGCCATGCTTTATTACCGCCGAGATGTGTGGA TGATACGCACACGATCGCTGATCACTGCCATGCTTTATTACCGC	TMCO3	ENSG00000150403.18	transcript	ENST00000434316.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TMEM120B_chr12_121707752_121787068	121747471	G G	GCTGGGGT others(563): Show GCTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0015 a0002c0002t0015	a0002c0002t0015g0306 a0002c0002t0015g0306	1	314	0.0032	570	c.189 others(585): Show c.189-836_189-835insTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG CGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGTCTGGGGTAGAAGGCGGGAGTCTGGGGTAG AAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGTCTGGGGTAGAAGGCGGGAG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM120B_chr12_121707752_121787068	121747551	G G	GCACTGGG others(563): Show GCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGTCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTG GGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTG GGAGGCACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0119 a0001c0001t0011g0119	1	314	0.0032	570	c.189 others(585): Show c.189-774_189-773insACTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGTCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGG TGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCAC TGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAG AAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAA GGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCACTGGGGTAGAAGGCGGGAGGCTGGG GTAGAAGGTGGGAGGCACTGGGGTAGAAGGTGGGAGGCAC	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM163_chr2_134450759_134724000	134608017	A A	AAGGACAG others(563): Show AAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAAC TGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACA GACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTG GTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCG AGAACTGTGCTGGTGAAAAGGACAGACCTTGAGAACTGTGCTGGTGAAAA GGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTG TGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGACAGA CCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGT GAAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAGAC CCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTACTGGTG AAAAGGAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCG AGAACTGTGCTGGTGAAAAGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01071.hp1 others(2): Show HG00733.hp1 HG01069.hp2 HG01071.hp1 HG03491.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0021 a0001c0001t0001g0053 a0001c0001t0002g0052 others(2): Show a0001c0001t0001g0021 a0001c0001t0001g0053 a0001c0001t0002g0052 a0001c0001t0002g0057 a0001c0001t0003g0020	5	222	0.0225	570	c.323 others(589): Show c.323-55927_323-55926insCCTTTTCACCAGCACAGTTCTCGGGG TCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCA GTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTG TCCTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTCCTTTTCACCAG CACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGT CCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTT CTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTC ACCAGCACAGTTCTCAAGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGG TCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCC TTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCT CGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TOX_chr8_58800412_59124147	59092275	A A	ATATTATA others(563): Show ATATTATATATACATTATATATATTATATATATATACATTATATATACAT TATATATATATACATTATATATACATTATATATATTATACATTATATATA CATTATATATATTATATATTATATATACATTATATATATTATATATTATA TATACATTATATATATTATATATTATATATACATTATATATATTATATAT TATATATACATTATATATATTATATATTATATATACATTATATATATTAT ATATTATATATACATTATATATATTATATATTATATATACATTATATATA TTATATATTATATATACATTATATATATTATATATTATATATACATTATA TATATTATATATTATATATACATTATATATATTATATATTATATATACAT TATATATATTATATATTATATATACATTATATATATTATATATTATATAT ACATTATATATATTATATATTATATATACATTATATATATTATATATTAT ATATACATTATATATATTATATATTATATATACATTATATATATTATATA TTATATATACATTATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	224	0.0045	570	c.102 others(589): Show c.102+26610_102+26611insATATATATAATGTATATATAATATAT AATATATATAATGTATATATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAATGTATATATAATATATAATATATATAATGTA TATATAATATATAATATATATAATGTATATATAATATATAATATATATAA TGTATATATAATATATAATATATATAATGTATATATAATATATAATATAT ATAATGTATATATAATATATAATATATATAATGTATATATAATATATAAT ATATATAATGTATATATAATATATAATATATATAATGTATATATAATATA TAATATATATAATGTATATATAATATATAATATATATAATGTATATATAA TATATAATATATATAATGTATATATAATATATAATATATATAATGTATAT ATAATGTATAATATATATAATGTATATATAATGTATATATATATAATGTA TATATAATGTATATATATATAATATATATAATGTATATATAATA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TP53AIP1_chr11_128930370_128947871	128930685	G G	GGTTAGGG others(563): Show GGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTAG GGAGGCTGGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGG AGGCCTAGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGC CGGGGTTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAGGG GTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAG GGAGACCAAGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGACCA AGGGTCAGGGAGGCCAGGGATTAGGGAGGCCGGGGTTAGGGAGGCCGGGG TTAGAGAGGCCAGGGGTTAGGGAGGCCAGGGTAGGGAGGCTGGGGGTTAG GAAGGCCGGGGTTAGGGAGACCAAGGGTCAGGGAGGCCAGGGGTTAGGGA GGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCA GGGGTTAGGGAGGCCAGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0138 a0001c0001t0001g0138	1	466	0.0022	570	c.49 others(581): Show c.4905_*4906insACCCCTGGCCTCCCTAACCCCTGGCCTCTCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCTG GCCTCCCTGACCCTTGGTCTCCCTAACCCCGGCCTTCCTAACCCCCAGCC TCCCTACCCTGGCCTCCCTAACCCCTGGCCTCTCTAACCCCGGCCTCCCT AACCCCGGCCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAAC CCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGG CCTCCCTAATCCCTGGCCTCCCTGACCCTTGGTCTCCCTAACCCCAGCCT CCCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAACCCCTGGCCTCCCT AACCCCAGCCTCCCTAACCCCAGCCTCCCTAACCCCGGCCTCCCTAACCC CAGCCTCCCTAACCCCGGCCTCCCTAACCCTAGGCCTCCCTAACCCCTGG CCTCCCTGACCCTTGGTCTCCCTAACCCCCAGCCTCCCTACCCCGGCCTC CCTAACCCCGGCCTCCCTAACCCCAGCCTCCCTAAC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4684		chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(563): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTAC ACATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGT ACACATGTATATACGTATACATGTGTACACATGTATATACGTATACATGT GTACACATGTATATACGTATACATGTGTACACATGTATATACGTATACAT GTGTACACATGTATATACGTATACATGTGTACACATGTATATACGTATAC ATGTGTACACATGTATATACGTATACATGTGTACACATGTATATACGTAT ACATGTGTACACATGTATATACGTATACATGTGTACACATGTATATACGT ATACATGTGTACACATGTATATACGTATACATGTGTACACATGTATATAC GTATACATGTGTACACATGTATATACGTATACATGTGTACACATGTATAT ACGTATACATGTGTACACATGTATATACGTATACATGTGTACACATGTAT GTGTATATATGTATACATGTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0276 a0001c0001t0010g0276	1	388	0.0026	570	c.-23 others(587): Show c.-23+2480_-23+2481insTACATGTATACATATATACACATACATG TGTACACATGTATACGTATATACATGTGTACACATGTATACGTATATACA TGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTATATA CATGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTATA TACATGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTA TATACATGTGTACACATGTATACGTATATACATGTGTACACATGTATACG TATATACATGTGTACACATGTATACGTATATACATGTGTACACATGTATA CGTATATACATGTGTACACATGTATACGTATATACATGTGTACACATGTA TACGTATATACATGTGTACACATGTATACGTATATACATGTGTACACATG TATACGTATATACATGTGTACACATGTATACGTATATACATGTGTACACA TGTATACGTATATACATGTGTACACATGTATACGTATATACATGTGTACA CATGTAGATACACGTATATATACATATATACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRAF6_chr11_36478769_36515272	36507567	G G	GTATATAT others(563): Show GTATATATACATGTATATATGTATATATACGTGTATCTACATGTGTACAC ATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGTAC ACATGTATATACGTATACATGTGTACACATGTATATACGTATACATGTGT ACACATGTATATACGTATACATGTGTACACATGTATATACGTATACATGT GTACACATGTATATACGTATACATGTGTACACATGTATATACGTATACAT GTGTACACATGTATATACGTATACATGTGTACACATGTATATACGTATAC ATGTGTACACATGTATATACGTATACATGTGTACACATGTATATACGTAT ACATGTGTACACATGTATATACGTATACATGTGTACACATGTATATACGT ATACATGTGTACACATGTATATACGTATACATGTGTACACATGTATGTAT GTGTATATATGTATACATGTATATATGTATACATACACGCGCGTGTATAT ATACATACACGCGCGTGTATATATGTATACATACACGCGCGTGTATATAT GTATACATACACGCGCGTGTA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0242 a0001c0001t0010g0242	1	388	0.0026	570	c.-23 others(587): Show c.-23+2480_-23+2481insTACACGCGCGTGTATGTATACATATATA CACGCGCGTGTATGTATACATATATACACGCGCGTGTATGTATATATACA CGCGCGTGTATGTATACATATATACATGTATACATATATACACATACATA CATGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTATA TACATGTGTACACATGTATACGTATATACATGTGTACACATGTATACGTA TATACATGTGTACACATGTATACGTATATACATGTGTACACATGTATACG TATATACATGTGTACACATGTATACGTATATACATGTGTACACATGTATA CGTATATACATGTGTACACATGTATACGTATATACATGTGTACACATGTA TACGTATATACATGTGTACACATGTATACGTATATACATGTGTACACATG TATACGTATATACATGTGTACACATGTATACGTATATACATGTGTACACA TGTATACGTATATACATGTGTACACATGTATACGTATATACATGTGTACA CATGTAGATACACGTATATATACATATATACATGTATATATA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM48_chr11_55257155_55276114	55273431	A A	ATATATAT others(563): Show ATATATATATTATATATATATAAAAATTATATATATATTATATATAAAAA TTATATATATTATATATATAAAAATTATATATATATTATATATATAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATATTATATATATATAAAAATTATATATATATTATA TATATATAAAAATTATATATATATTATATATATATAAAAATTATATATAT ATTATATATATATAAAAATTATATATATATTATATATATATAAAAATTAT ATATATTATATATATATAAAAATTATATATATATTATATATATAAAAAAA TTATATATATATTATATATATATAAAAATTATATATATATTATATATATA TAAAAATTATATATATTATATATATATAAAAATTATATATATTATATATA TATATAAATTATATATATATTATATATATATAAAAATTATATATATATTA TATATATATAAAAATTATATATATATTGTATATATATAAAAATTATATAT ATATTATATATATATAAAAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18953.hp1 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	272	0.0037	570	c.29 others(581): Show c.2996_*2997insTATATATATTATATATATATAAAAATTATATATA TATTATATATAAAAATTATATATATTATATATATAAAAATTATATATATA TTATATATATAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATATTATATATATATAAAAAT TATATATATATTATATATATATAAAAATTATATATATATTATATATATAT AAAAATTATATATATATTATATATATATAAAAATTATATATATATTATAT ATATATAAAAATTATATATATTATATATATATAAAAATTATATATATATT ATATATATAAAAAAATTATATATATATTATATATATATAAAAATTATATA TATATTATATATATATAAAAATTATATATATTATATATATATAAAAATTA TATATATTATATATATATATAAATTATATATATATTATATATATATAAAA ATTATATATATATTATATATATATAAAAATTATATATATATTGTATATAT ATAAAAATTATATATATATTATATATATATAAAAAT	TRIM48	ENSG00000150244.12	transcript	ENST00000417545.5	protein_coding		2318		chr11	TogoVar
TSHZ2_chr20_52967358_53500330	53204081	T T	TTATATCA others(563): Show TTATATCATCATATGATGATATACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATAC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03098.hp2 NA19030.hp2 HG02055.hp1 HG03098.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0010 a0002c0003t0006 a0002c0003t0010	a0002c0003t0006g0037 a0002c0003t0006g0143 a0002c0003t0010g0099 a0002c0003t0006g0037 a0002c0003t0006g0143 a0002c0003t0010g0099	3	174	0.0172	570	c.41- others(587): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATAC TATTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATATGATG ATATGATACTATATCATCATATGATGATATGATACTATATCATCATATGA TGATATGATATACTATATCATCATATGATGATATGATATACTATATCATC ATATGATGATATGATATACTATATCATCATATGATGATATGATATACTAT ATCATCATATGATGATATGATATACTATATCATCATATGATGATATGATA TACTATATCATCATATGATGATATGATATACTATATCATCATATGATGAT ATGATATACTATATCATCATATGATGATATGATATACTATATCATCATAT GATGATATGATATACTATATCATCATATGATGATATGATATACTATATCA TCATATGATGATATGATATACTATATCATCATATGATGATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC16_chr9_127711079_127736590	127720831	T T	TTCCCCCT others(563): Show TTCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCC TTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCC TCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCT TCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCCTCCCTTCCCCCTTCC CCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCTTCCTCCGTCCCCCTT CCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCTTCCCTCCCCCC TTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCCCTTCCCCCTTCCCCC TTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCCCTCCTCCCTTCCCCC TTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTTCTC CCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCCCCCTTCCACCCTTCC CCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCTCCTCTCTTCCCCCTT CCTCCCTCCTCCTTTCCTTTC	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0037 a0002c0003t0002g0037	1	334	0.0030	570	c.657 others(585): Show c.657+440_657+441insCCTTCCTCCCTCCCCCCTTCCTCCCTCCCC CTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCC CTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCTTCCTCCCTCCCCCT TCTTCCCTCCTCCCTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTCCCTCC TCCCTTCCCCCTTCCCCCCTTCCTCCCTCCCCCCTTCCTCCCTCCCCCCT TCCTCCGTCCCCCTTCCTCCCTCCCCCCTTCTTCCCTCCTCCCTTCCCCC TTCTTCCCTCCCCCCTTCCCCCTTCCTCCCTCCCCCTTCTTCCCTCCTCC CTTCCCCCTTCCCCCTTCCTTCTTCCTCCCTTCCTCTTCTTCCTCCCTCC CTCCTCCCTTCCCCCTTCCCCCCTCCTCCCTTCCCCCTTCCCCCCTCCTC CCTTCCCCCTTTCTCCCTTATCCCTCCTCCCTTCCCCCTTCCTCCCTTCC CCCTTCCACCCTTCCCCCTTACCCCCTTCCTCTCTTCCTCCTTCCTCCCT CCTCTCTTCCCCCTTCCTCCCTCCTCCTTTCCTTTCTCCC	TTC16	ENSG00000167094.16	transcript	ENST00000373289.4	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
VGLL4_chr3_11551069_11648915	11599587	C C	CGGCTCAC others(563): Show CGGCTCACTCCAAGTTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTCA GGCTTCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTCGATCTCTTGACCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTC GGATTACAGGCGTGAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTAAG ACAGAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGG GAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGC TAACACGGTGAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGT GTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAG AATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCA CTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAA AAAAAAGACAGAGTCTCAGCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA20300.hp2 HG03098.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0039 a0001c0001t0007 a0001c0001t0039	a0001c0001t0007g0274 a0001c0001t0039g0387 a0001c0001t0007g0274 a0001c0001t0039g0387	2	388	0.0052	570	c.272 others(587): Show c.272+2245_272+2246insAGCTGAGACTCTGTCTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGC TAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGACTCTGTCTTAAAA AAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCTGTAATCCGAGCACT TTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGAGATCGAGACCATCC TGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGAAGCCTGAGGCA GGAGAATGGCGTGAACCTGGGAGGCGGAACTTGGAGTGAGCC	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(563): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTAAGACAGAGTCG GCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCG GGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAG TCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02451.hp2 NA18948.hp2 HG01109.hp2 HG02451.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0181 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0001g0181 a0001c0001t0002g0296 a0001c0001t0002g0297	3	388	0.0077	570	c.272 others(587): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGAG ATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(563): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTAAGACAGAGTCG GCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGT GAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCG GGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAG TCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0239 a0001c0002t0002g0239	1	388	0.0026	570	c.272 others(587): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGAG ATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(563): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTAAGACAGAGTCG GCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCG GGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAG TCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG04115.hp1 HG00558.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0370 a0001c0001t0002g0322 a0001c0001t0002g0370	2	388	0.0052	570	c.272 others(587): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACGCCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGAG ATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(563): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTAAGACAGAGTCG GCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAG TCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0377 a0001c0001t0002g0377	1	388	0.0026	570	c.272 others(587): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGAG ATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(563): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTAAGACAGAGTCG GCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCG GGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAG TCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(96): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01943.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp2 HG02273.hp1 HG02486.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03209.hp1 HG03239.hp2 HG03704.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18955.hp2 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18979.hp2 NA18988.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19001.hp1 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19064.hp1 NA19067.hp2 NA19070.hp2 NA19077.hp1 NA19088.hp2 NA19089.hp2 NA20129.hp2 NA20752.hp2 NA20805.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0011 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0001c0001t0018 a0001c0001t0025 a0001c0001t0030 a0001c0002t0002 a0001c0004t0002 a0001c0004t0003 a0001c0011t0002 a0002c0003t0002	a0001c0001t0001g0054 a0001c0001t0001g0071 a0001c0001t0001g0072 others(96): Show a0001c0001t0001g0054 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0121 a0001c0001t0001g0153 a0001c0001t0001g0180 a0001c0001t0001g0182 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0199 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0002g0289 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0312 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0326 a0001c0001t0002g0332 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0002g0364 a0001c0001t0002g0368 a0001c0001t0002g0369 a0001c0001t0002g0371 a0001c0001t0002g0372 a0001c0001t0002g0373 a0001c0001t0002g0378 a0001c0001t0002g0379 a0001c0001t0002g0380 a0001c0001t0002g0381 a0001c0001t0002g0383 a0001c0001t0002g0384 a0001c0001t0002g0385 a0001c0001t0003g0313 a0001c0001t0003g0327 a0001c0001t0003g0331 a0001c0001t0003g0333 a0001c0001t0003g0338 a0001c0001t0005g0082 a0001c0001t0011g0290 a0001c0001t0011g0291 a0001c0001t0014g0098 a0001c0001t0018g0314 a0001c0001t0018g0321 a0001c0001t0025g0097 a0001c0001t0030g0317 a0001c0002t0002g0200 a0001c0002t0002g0218 a0001c0002t0002g0229 a0001c0002t0002g0236 a0001c0002t0002g0237 a0001c0002t0002g0238 a0001c0004t0002g0299 a0001c0004t0002g0300 a0001c0004t0003g0316 a0001c0004t0003g0328 a0001c0004t0003g0330 a0001c0004t0003g0334 a0001c0011t0002g0315 a0002c0003t0002g0267	99	388	0.2552	570	c.272 others(587): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGAG ATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(563): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTAAGACAGAGTCG GCCGGGTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCG GGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAG TCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0294 a0001c0001t0002g0294	1	388	0.0026	570	c.272 others(587): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGAG ATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCCGAC others(563): Show GCTCCGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCAGCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTAAGACAGAGTCG GCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCG GGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAG TCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0263 a0001c0002t0002g0263	1	388	0.0026	570	c.272 others(587): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGAG ATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCCTGCTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCGGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VGLL4_chr3_11551069_11648915	11599600	G G	GCTCTGAC others(563): Show GCTCTGACTCCCGCATTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCAGGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCTTGA CCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGT GAGCCACCGCGCCCAGCCTTCTTTTTTTTTTTTTTTTTAAGACAGAGTCG GCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAG GCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGT GAAACCCCGCCTCCACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCG GGTGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCC AGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAG TCTCAGCTGGCTCACTGCAAC	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0329 a0001c0004t0003g0329	1	388	0.0026	570	c.272 others(587): Show c.272+2232_272+2233insGTTGCAGTGAGCCAGCTGAGACTCTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGC AGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACC ACACCCGGCTAATTTTTTGTATTTTTAGTGGAGGCGGGGTTTCACCGTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCGACTCT GTCTTAAAAAAAAAAAAAAAAAGAAGGCTGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGGATCACGAGGTCAAGAG ATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCCTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAATGCGGGAGTCAGAG	VGLL4	ENSG00000144560.16	transcript	ENST00000430365.7	protein_coding	2/4			chr3	TogoVar
VIPR2_chr7_159023175_159149867	159088831	G G	GGGAATGG others(563): Show GGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAAT AGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCT CGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATC TGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGA ATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGC CTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCA TCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGG GAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAG GCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCT CATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAAT GGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTC AGGCCTCGGCTCCTCATCTGT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01106.hp1 HG02523.hp2 HG00642.hp1 HG01106.hp1 HG02523.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0002 a0001c0002t0005	a0001c0002t0002g0143 a0001c0002t0005g0236 a0001c0002t0005g0262 a0001c0002t0002g0143 a0001c0002t0005g0236 a0001c0002t0005g0262	3	336	0.0089	570	c.357 others(589): Show c.357+14925_357+14926insACAGATGAGGAGCCGAGGCCTGAGGC TATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCC ACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAG CCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAG GCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATT CCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGG AGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTG AGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCA TTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGA GGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCC TGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCC CATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VIPR2_chr7_159023175_159149867	159088856	A A	AGCTCCTC others(563): Show AGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCT GTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAA TAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCC TCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCAT CTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGG AATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGG CCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTC ATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATG GGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCA GGCCTCGGCTCCTCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCC TCATCTGTGGAATGGGAATAGCCTCAGGCCTCGGCTCCTCATCTGTGGAA TGGGAATAGCCTCAGGCCTCG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp1 HG01069.hp2 others(41): Show HG00544.hp1 HG00673.hp1 HG01069.hp2 HG01071.hp2 HG01175.hp1 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01496.hp2 HG01517.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02083.hp2 HG02148.hp1 HG02155.hp1 HG02165.hp2 HG02300.hp2 HG02602.hp1 HG02970.hp2 HG03491.hp1 HG03579.hp2 HG03927.hp1 NA18906.hp1 NA18941.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18953.hp2 NA18959.hp1 NA18986.hp2 NA18989.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19063.hp1 NA19066.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0004c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0020 a0001c0001t0031 a0001c0002t0002 a0001c0002t0005 a0001c0002t0009 a0001c0002t0051 a0001c0002t0052 a0001c0002t0053 a0001c0002t0056 a0001c0007t0002 a0004c0014t0002	a0001c0001t0001g0259 a0001c0001t0001g0302 a0001c0001t0002g0082 others(41): Show a0001c0001t0001g0259 a0001c0001t0001g0302 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0003g0271 a0001c0001t0003g0272 a0001c0001t0009g0251 a0001c0001t0020g0252 a0001c0001t0031g0244 a0001c0002t0002g0004 a0001c0002t0002g0028 a0001c0002t0002g0158 a0001c0002t0002g0204 a0001c0002t0002g0222 a0001c0002t0002g0239 a0001c0002t0002g0243 a0001c0002t0002g0245 a0001c0002t0002g0246 a0001c0002t0002g0247 a0001c0002t0002g0253 a0001c0002t0002g0266 a0001c0002t0002g0270 a0001c0002t0002g0275 a0001c0002t0002g0277 a0001c0002t0002g0278 a0001c0002t0002g0279 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0294 a0001c0002t0005g0039 a0001c0002t0005g0091 a0001c0002t0005g0159 a0001c0002t0009g0185 a0001c0002t0009g0232 a0001c0002t0009g0233 a0001c0002t0009g0234 a0001c0002t0051g0248 a0001c0002t0052g0176 a0001c0002t0053g0274 a0001c0002t0056g0186 a0001c0007t0002g0163 a0001c0007t0002g0273 a0004c0014t0002g0164 a0004c0014t0002g0165	44	336	0.1310	570	c.357 others(589): Show c.357+14900_357+14901insCGAGGCCTGAGGCTATTCCCATTCCA CAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGC CGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGG CTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTC CACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGA GCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGA GGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCAT TCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAG GAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCT GAGGCTATTCCCATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCC ATTCCACAGATGAGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATG AGGAGCCGAGGCCTGAGGCTATTCCCATTCCACAGATGAGGAGC	VIPR2	ENSG00000106018.14	transcript	ENST00000262178.7	protein_coding	4/12			chr7	TogoVar
VWA5B2_chr3_184224585_184247329	184235770	C C	CCATGTGT others(563): Show CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAG CCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTC CCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTAC CTCCAGAGTCCCACACACAGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA19065.hp1 NA19078.hp1 HG03130.hp1 NA19065.hp1 NA19078.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0018 a0002c0002t0002g0038 a0002c0002t0002g0018 a0002c0002t0002g0038	3	342	0.0088	570	c.110 others(587): Show c.1102-377_1102-376insGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCC AGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCACACACAGCCAT GTGTACCTCCAGAGTCCCACACACAGCCATGTGTACCTCCAGAGTCCCAC ACACAGCCATGTGTACCTCCAGAGTCCCACACACAGTCATGT	VWA5B2	ENSG00000145198.15	transcript	ENST00000691901.1	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr3	TogoVar
ZBTB34_chr9_126855639_126890878	126876191	C C	CCCCTTCC others(563): Show CCCCTTCCCCCTTCCCCCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTT CCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTC CCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCC CTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCTTTCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCGTTCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCTCCTTCCCCCCTTCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTT	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0163 a0001c0001t0002g0163	1	246	0.0041	570	c.-10 others(587): Show c.-10-3198_-10-3197insCCTTCCCCCTTCCCCCCTCCCCCTTCCC CCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCC CCCTTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCT TCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCC CCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCC CTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCTTCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCC TTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCGTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCTCCT TCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTC	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar
ZBTB42_chr14_104796101_104809712	104808338	G G	GAGCACCC others(563): Show GAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAG ACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGAT AACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTA CAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCC AGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGG ATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGCCG TACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCC CCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCA GGATAACAAGGCCGTACACAGCACCCCCAGACTCCCCAGGATAACAAGGC CGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCAC CCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCC CAGGATAACAAGGCCGTACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	99	0.0101	570	c.58 others(581): Show c.5872_*5873insAGCACCCCCAGACTCCCCAGGATAACAAGGCCGT ACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCC CAGACTCCCCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAG GATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCC GTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGCACC CCCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCCCC AGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGG CCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGCA CCCCCAGACTCCCCAGGATAACAAGGCCGTACACAGCACCCCCAGACTCC CCAGGATAACAAGGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAA GGCCGTACAGAGCACCCCCAGACTCCCCAGGATAACAAGGCCGTACAGAG CACCCCCAGACTCCCCAGGATAACAAGGCCGTACAC	ZBTB42	ENSG00000179627.10	transcript	ENST00000342537.8	protein_coding		3627		chr14	TogoVar
ZNF100_chr19_21717771_21772579	21721195	A A	ACCCCGTC others(563): Show ACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGA AGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGG GGGGGGGGGGTCGGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGC CCCGTCCAGGAGGGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCGCC CAGTCCGGGAGGGAGGTGGAGGGTCAGCCCCCCGCCTGGCCAGCCGCCCC GTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCGGCCAGCCGCCCCGCCCAGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCTGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGT CAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGGGGAGGGGGGGTC AGCCCCCCGCCCGGCCAGCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0131 a0002c0001t0001g0131	1	365	0.0027	570	c.54 others(581): Show c.5487_*5488insCGGCTGGCCGGGCGGGGGGCTGACCCCCCCTCCC CCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGATGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCCACCTCC CTCCTGGGCGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTA GGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCC AGGCGGGGGGCTGACCCTCCACCTCCCTCCCGGACTGGGCGGCTGGCCGG GCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGACTGGCCGGG CAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGAGCCCCT CACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCCGCCTCCCTCCC GGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGC GGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCG GGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGG	ZNF100	ENSG00000197020.12	transcript	ENST00000358296.11	protein_coding		1575		chr19	TogoVar
ACTRT3_chr3_169761921_169774561	169770602	A A	AATATAAA others(564): Show AATATAAATATATAAAAATTTATATTTATATATCATAAATATATAAAAAT TTATATTTATATATCATAAATAAAAATTTATATTTATATATCATAAATAA AAATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATAT ATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATATC ATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTATATA TCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATATTTA TATATCATATATAAAAATTTATATTTATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATATATCATATATAAAAATTTATA TTTATATATCATATATAAAAATTTATATTTATATATCATATATAAAAATT TATATTTATATATCATATATAAAAATTTATATTTATATATCATATATAAA AATTTATATTTATATATCATATATAAAAATTTATATTTATATATCATATA TAAAAATTTATATTTATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	571	c.-10 others(582): Show c.-1083_-1082insGATATATAAATATAAATTTTTATATATGATATAT AAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATATGAT ATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTATATA TGATATATAAATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATATAAATTTTTATATATGATATATAAATATAAATTTTTA TATATGATATATAAATATAAATTTTTATATATGATATATAAATATAAATT TTTATATATGATATATAAATATAAATTTTTATATATGATATATAAATATA AATTTTTATATATGATATATAAATATAAATTTTTATATGATATATAAATA TAAATTTTTATATATGATATATAAATATAAATTTTTATATATGATATATA AATATAAATTTTTATATATGATATATAAATATAAATTTTTATTTATGATA TATAAATATAAATTTTTATTTATGATATATAAATATAAATTTTTATATAT TTATGATATATAAATATAAATTTTTATATATTTATAT	ACTRT3	ENSG00000184378.3	transcript	ENST00000330368.3	protein_coding		1042		chr3	TogoVar
ADAMTS16_chr5_5135330_5325304	5305033	C C	CCCACACC others(564): Show CCCACACCACACACACATCCCACACCAAACACACACACACATCCCACACC ACACACACACATCCCACACCACACACACACATCCACACCACACACACACA CATCCCACACCACACACACACAATCCCACACCACACACACAATCCCACAC CACACACACACACATCCCACACCACACACACACATCCCACACCACACACA CACACATCCCACACCACACACACACACACCCCACACCACACACACACATC CACACCACACACACACACATCCCACACCACACACAAATCCCACACCACAC ACACAATCCCACACCACACACACACACATCCCACACCACACACAACCCAC GCCACACACACACATCCCACACCCATCCCACGCCACACACATCCACACCA CACACACATCCCACACCACACACACACACACACACATCCCATACCACACA CACACATCCCACACCACACACATCCCACACCACACACACATCCCACACCA CACACACACATCCCACACCACACACACACACATCCCACACCACACATACA CATCCCACACCACACACACACA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03041.hp1 HG03209.hp1 others(2): Show HG02280.hp2 HG03041.hp1 HG03209.hp1 HG03579.hp2 NA19043.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0052 a0003c0006 others(1): Show a0001c0001 a0001c0052 a0003c0006 a0004c0009	a0001c0001t0002 a0001c0001t0014 a0001c0052t0006 others(2): Show a0001c0001t0002 a0001c0001t0014 a0001c0052t0006 a0003c0006t0016 a0004c0009t0015	a0001c0001t0002g0060 a0001c0001t0014g0059 a0001c0052t0006g0236 others(2): Show a0001c0001t0002g0060 a0001c0001t0014g0059 a0001c0052t0006g0236 a0003c0006t0016g0172 a0004c0009t0015g0140	5	332	0.0151	571	c.318 others(590): Show c.3186+1268_3186+1269insCACACCACACACACATCCCACACCAA ACACACACACACATCCCACACCACACACACACATCCCACACCACACACAC ACATCCACACCACACACACACACATCCCACACCACACACACACAATCCCA CACCACACACACAATCCCACACCACACACACACACATCCCACACCACACA CACACATCCCACACCACACACACACACATCCCACACCACACACACACACA CCCCACACCACACACACACATCCACACCACACACACACACATCCCACACC ACACACAAATCCCACACCACACACACAATCCCACACCACACACACACACA TCCCACACCACACACAACCCACGCCACACACACACATCCCACACCCATCC CACGCCACACACATCCACACCACACACACATCCCACACCACACACACACA CACACACATCCCATACCACACACACACATCCCACACCACACACATCCCAC ACCACACACACATCCCACACCACACACACACATCCCACACCACACACACA CACATCCCACACCACACATACACATCCCACACCACACACACACAC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
ADAMTS16_chr5_5135330_5325304	5305033	C C	CCCACACC others(564): Show CCCACACCACACACACATCCCACACCAAACACACACACACATCCCACACC ACACACACACATCCCACACCACACACACACATCCACACCACACACACACA CATCCCACACCACACACACACAATCCCACACCACACACACAATCCCACAC CACACACACACACATCCCACACCACACACACACATCCCACACCACACACA CACACATCCCACACCACACACACACACATCCCACACCACACACACACATC CACACCACACACACACACATCCCACACCACACACAAATCCCACACCACAC ACACAATCCCACACCACACACACACACATCCCACACCACACACAACCCAC GCCACACACACACATCCCACACCCATCCCACGCCACACACATCCACACCA CACACACATCCCACACCACACACACACACACACACATCCCATACCACACA CACACATCCCACACCACACACATCCCACACCACACACACATCCCACACCA CACACACACATCCCACACCACACACACACACATCCCACACCACACATACA CATCCCACACCACACACACACA	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02109.hp2 HG02572.hp2 others(1): Show HG01952.hp1 HG02109.hp2 HG02572.hp2 HG02717.hp2	a0001 a0025 a0031 a0001 a0025 a0031	a0001c0032 a0025c0066 a0031c0040 a0001c0032 a0025c0066 a0031c0040	a0001c0032t0001 a0001c0032t0038 a0025c0066t0002 others(1): Show a0001c0032t0001 a0001c0032t0038 a0025c0066t0002 a0031c0040t0014	a0001c0032t0001g0065 a0001c0032t0038g0235 a0025c0066t0002g0264 others(1): Show a0001c0032t0001g0065 a0001c0032t0038g0235 a0025c0066t0002g0264 a0031c0040t0014g0191	4	332	0.0121	571	c.318 others(590): Show c.3186+1268_3186+1269insCACACCACACACACATCCCACACCAA ACACACACACACATCCCACACCACACACACACATCCCACACCACACACAC ACATCCACACCACACACACACACATCCCACACCACACACACACAATCCCA CACCACACACACAATCCCACACCACACACACACACATCCCACACCACACA CACACATCCCACACCACACACACACACATCCCACACCACACACACACACA TCCCACACCACACACACACATCCACACCACACACACACACATCCCACACC ACACACAAATCCCACACCACACACACAATCCCACACCACACACACACACA TCCCACACCACACACAACCCACGCCACACACACACATCCCACACCCATCC CACGCCACACACATCCACACCACACACACATCCCACACCACACACACACA CACACACATCCCATACCACACACACACATCCCACACCACACACATCCCAC ACCACACACACATCCCACACCACACACACACATCCCACACCACACACACA CACATCCCACACCACACATACACATCCCACACCACACACACACAC	ADAMTS16	ENSG00000145536.15	transcript	ENST00000274181.7	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr5	TogoVar
AZU1_chr19_822837_837018	835508	G G	GTCCAGGC others(564): Show GTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCGTCCAGGCCC CGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGC GGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCAC CCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCC CGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGC CCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGT GCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCA CCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCC CCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAGAGCCAGCCCCGTCCA GGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCTGTCCAGGCCCCG ACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCCGGGCCCCGACGCGTG CAGCCCCCACCCCGCAGCCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	391	0.0026	571	c.36 others(582): Show c.3631_*3632insTCCAGGCCCCGACGCGTGCAGCCCCCACCCCGCA GCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCA GGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACG CGTGCGGCCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCC CCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCCACCCCG CAGCCCCGTCCAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTC CAGGCCCCGACGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGA CGCGTGCGGCCCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCGGC CCCCACCCCGCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCCCCTGGCAG AGCCAGCCCCGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGC CCTGTCCAGGCCCCGACGCGTGCAGCCTCCTGGCAGAGCCAGCCCCGTCC GGGCCCCGACGCGTGCAGCCCCCACCCCGCAGCCCCA	AZU1	ENSG00000172232.10	transcript	ENST00000233997.4	protein_coding		3491		chr19	TogoVar
B3GNTL1_chr17_82937149_83056770	83026615	T T	TACACAGA others(564): Show TACACAGAGGAGGAAAGGGAGCCTGCAGACAAACCCACCATCGACCGATA CACAGAGGAGGGCAGGGAGCCTGCATACAAACCCACCCTCGACAGACACA CAGAGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAG AGCGGGGCAGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGC GGGACGGGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCGGG GCGGGAGCCTGCAGACAAACCCACCCTTGACAGACACACAGAGCGGGACG GGAGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGCAGGGCAGGA AGCCTGCAGACAAACCCACCCTCGACAGACACACAGAGGAGGGCAGGGAG CCTGCAGACAAACCCACCCTCGACAGACACGCAGAGCAGGGCAGGGAGCC TGCAGACAAACCCACCCTCGACAGACACACAGAGCGGGGCAGGAAGCCTG CAGACAAACCCACCCTCGACAGACACACAGAGCAGGGCGGGGAGCCTGCA GACAAACCCACCCTCGACAGAC	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0005 a0005	a0005c0026 a0005c0026	a0005c0026t0006 a0005c0026t0006	a0005c0026t0006g0176 a0005c0026t0006g0176	1	266	0.0038	571	c.297 others(588): Show c.297+8419_297+8420insGTCTGTCGAGGGTGGGTTTGTCTGCAGG CTCCCCGCCCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCT TCCTGCCCCGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCC CTGCCCTGCTCTGCGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCT GCCCTCCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTTCCTGC CCTGCTCTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGTCCC GCTCTGTGTGTCTGTCAAGGGTGGGTTTGTCTGCAGGCTCCCGCCCCGCT CTGTGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCCGTCCCGCTCTG TGTGTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTGT GTCTGTCGAGGGTGGGTTTGTCTGCAGGCTCCTGCCCCGCTCTGTGTGTC TGTCGAGGGTGGGTTTGTATGCAGGCTCCCTGCCCTCCTCTGTGTATCGG TCGATGGTGGGTTTGTCTGCAGGCTCCCTTTCCTCCTCTGTGT	B3GNTL1	ENSG00000175711.9	transcript	ENST00000320865.4	protein_coding	4/12			chr17	TogoVar
B4GALNT4_chr11_364499_387117	374748	A A	AAGGGAGG others(564): Show AAGGGAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGGAGGGAGGA GGAGGGAAGGGAGGAGGAGGACGGGAGGGAGGAGGAAGGGAGGGAGGAGG AAGGGAGGGAGGAGGGAAGGGAAGGCGAGGAGGAAGGGAGGGGAGGGAGG AGGAAGGGGAGGGAGGAGGAGAGTTAGGGAGGGAGGGAGGAAGGGAGGGG AGGGAGGAAGGGAGGGAGGAGGAAGGGAGGAGGAGGAAGGGAGGGAGGAG GAAGGGAGGGAGGAGGAAGGAGGGAGGAGGAAGGGAGAGGAGGAGGAGGA AGGGAGGGAGGGAGGAGGAAGGGAGGGAGAGGAGGAAGGGAGGGAGGAGG AGAGGAGGGAGGAGGAAGAGGGAGGAGGAGGGAGGGAGAGAGGAGGGAGG AGGAGAAGGGAGGGAGGGAGGAGGAGGGAGGGAGGAGGAGGAAGGGAGGG AGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGAGAGGAGGAG GAAGGGAGGGAGGAGGAAGGGG	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0115 a0002c0002t0001g0115	1	184	0.0054	571	c.784 others(586): Show c.784-702_784-701insGAGGAGGAAGGGAGGGAGGGAGGAGGAAGG GAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGGAGGAGGG AGGGAGGAGGAGGGAAGGGAGGAGGAGGACGGGAGGGAGGAGGAAGGGAG GGAGGAGGAAGGGAGGGAGGAGGGAAGGGAAGGCGAGGAGGAAGGGAGGG GAGGGAGGAGGAAGGGGAGGGAGGAGGAGAGTTAGGGAGGGAGGGAGGAA GGGAGGGGAGGGAGGAAGGGAGGGAGGAGGAAGGGAGGAGGAGGAAGGGA GGGAGGAGGAAGGGAGGGAGGAGGAAGGAGGGAGGAGGAAGGGAGAGGAG GAGGAGGAAGGGAGGGAGGGAGGAGGAAGGGAGGGAGAGGAGGAAGGGAG GGAGGAGGAGAGGAGGGAGGAGGAAGAGGGAGGAGGAGGGAGGGAGAGAG GAGGGAGGAGGAGAAGGGAGGGAGGGAGGAGGAGGGAGGGAGGAGGAGGA AGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGGAGGGAGGAGGAAGGAG AGGAGGAGGAAGGGAGGGAGGAGGAAGGGGAGGGAGGGAGG	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
B4GALNT4_chr11_364499_387117	384901	A A	ACACAGCC others(564): Show ACACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGC AAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCC CAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAAC CCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGG GCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACT CCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGA ACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCC GGGCAAGACCCACTCCCAGGCCTGGAACCCCCCACAGCCGGGCAAGACCC ACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCT GGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACA GCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGAC CCACTCCCAGGCCTGGAACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0020 a0020	a0020c0027 a0020c0027	a0020c0027t0004 a0020c0027t0004	a0020c0027t0004g0008 a0020c0027t0004g0008	1	184	0.0054	571	c.31 others(582): Show c.3109_*3110insCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAA CCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCG GGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCAC TCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGG AACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGC CGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCC ACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCT GGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCCAC AGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGA CCCACTCCCAGGCCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGG CCTGGAACCCCCACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCCC ACAGCCGGGCAAGACCCACTCCCAGGCCTGGAACCCC	B4GALNT4	ENSG00000182272.12	transcript	ENST00000329962.11	protein_coding		2785		chr11	TogoVar
BFSP2_chr3_133395056_133480208	133425953	G G	GGGGGAGG others(564): Show GGGGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGG AGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGG GGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGAGGGGAGGGGATGGGAG GGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGG GAGGGGGGGAGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGGGGGGAG GGAGGGGGAGGGGGAAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGGGGAGGAG GAGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGAGG GGGAGGGGGGAGGGAGGGGAGGGGGAGGGGAGGGGAGAGGGAGGGGGGAT GGGGAGGGGAGGGGGAGGGGGGGAGGGGGAAGGGGGGAGGGGAGGGGAGG GGGAGGGGGAGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	276	0.0036	571	c.490 others(590): Show c.490-21355_490-21354insAGGGGAGGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGATGGGAGGGGGAGGGG AGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGAGG GGAGGGGATGGGAGGGGGAGGGGAGGGGATGGGAGGGGGAGGGGAGGGGA TGGGAGGGGGAGGGGAGGGGGGGAGGGAGGGGAGGGGGAGGGGGAGGGGG AGGGGAGGGGGGAGGGAGGGGGAGGGGGAAGGGGAGGGGGAGGGGAGGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGG GAGGGGGGGAGGAGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGGGAGGGG GAGGGGAGGGGAGGGGGAGGGGGGAGGGAGGGGAGGGGGAGGGGAGGGGA GAGGGAGGGGGGATGGGGAGGGGAGGGGGAGGGGGGGAGGGGGAAGGGGG GAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGG	BFSP2	ENSG00000170819.5	transcript	ENST00000302334.3	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr3	TogoVar
CABLES2_chr20_62383634_62412285	62398109	G G	GTGGTGAT others(564): Show GTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTTATGAC GGTGGTGATGGTGGTGGTGGTGGTGACGGTGATGGTGGTAATGGTGGTGG TGGTGATGGTGATGATGGTGGTGATGGTGATGTGATGGTGGTGGTGGTGA CGGTGGTGATGATGGTGATGGTTATGGTGGTGGTGGTGGTGGTGACAGTG ATGGTGATGGTGGTGATGGCGATGGTGGTGGTGACGGTGGTGGTGGTGGT GATGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTTATGACGGTGGTGATGGTGGTGGTGGTGGTGACG GTGATGGTGGTAATGGTGGTGGTGGTGATGGTGATGATGGTGGTGATGGT GATGTGATGGTGGTGGTGGTGACGGTGGTGATGATGGTGATGGTTATGGT GGTGGTGGTGGTGGTGACAGTGATGGTGATGGTGGTGATGGCGATGGTGG TGGTGACGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	400	0.0025	571	c.363 others(588): Show c.363-1518_363-1517insTCACCACCACCACCACCACCATCACCAC CACCACCACCACCACCACCATCACCACCACCACCACCGTCACCACCACCA TCGCCATCACCACCATCACCATCACTGTCACCACCACCACCACCACCATA ACCATCACCATCATCACCACCGTCACCACCACCACCATCACATCACCATC ACCACCATCATCACCATCACCACCACCACCATTACCACCATCACCGTCAC CACCACCACCACCATCACCACCGTCATAACCACCACCACCACCATCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCGTCACCACCACCATCGCCATCACCACCATCACCATCACTGT CACCACCACCACCACCACCATAACCATCACCATCATCACCACCGTCACCA CCACCACCATCACATCACCATCACCACCATCATCACCATCACCACCACCA CCATTACCACCATCACCGTCACCACCACCACCACCATCACCACCGTCATA ACCACCACCACCACCATCACCACCACCACCACCACCATCACCA	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CAMTA1_chr1_6780454_7774706	6940912	A A	AGGGGGTC others(564): Show AGGGGGTCCTCACAGGGAGGGGGGTCCTCAGAGGGAGAGGGATCCTCCCG GGGAAGGGGGATCCTCACGGGGAAGGGCATCCTCAGGGGGAAGGGGGATC CTCATGGGGAGGGGGATCCTCAGGGGGAGGGGAGATCCTCATGAGGAGGG GGGATCCTCACGGGGAGGGGGGGATCCTCCTCACAGGGAGGTGGATCCTC ACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAAGGGATCC TCAGGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAAGGGG GATCCTCACGGGGAGGCGGGTCCTCACGGGGAGGAGGATCCTCACGGGGA GGGGGATCCTCAGGGGGAGGGGGATCCTCACGGGGAGGGGATCCTCAGGG GGAGGGGGATCCTCCTCAGGGGGAGGCGGGTCCTCACGGGGAGTGGGGAT CCTCCAAGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGG GGGATCCTCACGGGGAGGGGGATCCTCAGAGGGAGGGGGGATCCTTGGGG GGAGGGGGATCCTCACAGGGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0030 a0001c0002t0004g0030	1	58	0.0172	571	c.234 others(592): Show c.234+115706_234+115707insGTCCTCACAGGGAGGGGGGTCCTC AGAGGGAGAGGGATCCTCCCGGGGAAGGGGGATCCTCACGGGGAAGGGCA TCCTCAGGGGGAAGGGGGATCCTCATGGGGAGGGGGATCCTCAGGGGGAG GGGAGATCCTCATGAGGAGGGGGGATCCTCACGGGGAGGGGGGGATCCTC CTCACAGGGAGGTGGATCCTCACGGGGAAGGGATCCTCAGGGGGAGGGGG ATCCTCACGGGGAAGGGATCCTCAGGGGGAGGGGGATCCTCAGGGGGAGG GGGATCCTCACGGGGAAGGGGGATCCTCACGGGGAGGCGGGTCCTCACGG GGAGGAGGATCCTCACGGGGAGGGGGATCCTCAGGGGGAGGGGGATCCTC ACGGGGAGGGGATCCTCAGGGGGAGGGGGATCCTCCTCAGGGGGAGGCGG GTCCTCACGGGGAGTGGGGATCCTCCAAGGGGAGGGGGATCCTCACGGGG AGGGGGATCCTCACGGGGAGGGGGATCCTCACGGGGAGGGGGATCCTCAG AGGGAGGGGGGATCCTTGGGGGGAGGGGGATCCTCACAGGGAGGGGG	CAMTA1	ENSG00000171735.21	transcript	ENST00000303635.12	protein_coding	3/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(564): Show CTCACATACAGACACAACCACACCACACTCACACACACACACACACTCAC ATACAGACACAACCACACCACACTCACACACACACATACACACTCACATA CAGACACAACCACACCACACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACATACACACTCACATACAGACACAACCACACCAC ACTCACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACACATACACACTCACATA CAGACACAACCACACCACACTCACACACACACATACACACTCACATACAG ACACAACCACACCACACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACATACACAG	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA19000.hp2 NA19060.hp2 others(1): Show NA18945.hp1 NA19000.hp2 NA19060.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0039 a0002c0002t0001g0103 a0002c0002t0001g0111 others(1): Show a0002c0002t0001g0039 a0002c0002t0001g0103 a0002c0002t0001g0111 a0002c0002t0001g0176	4	460	0.0087	571	c.193 others(588): Show c.1938+645_1938+646insCACACTCACATACAGACACAACCACACC ACACTCACACACACACATACACACTCACATACAGACACAACCACACCACA CACACACATACACACTCACATACAGACACAACCACACCACACTCACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACACACTCA CATACAGACACAACCACACCACACTCACACACACACACACTCACATACAG ACACAACCACACCACACTCACACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACACATACACACTCACATACAGACACAACC ACACCACACTCACACACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACACACACATACACACTCACATACAGACACAACCACACCACACAC ACACACACTCACATACAGACACAACCACACCACACTCACACACACATACA CAGTCACATACAGACACAACCACACCACACTCACACACACACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(564): Show CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACTCACATACAGACACAACCACACCACACTCACACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACATACA CACTCACATACAGACACAACCACACCACACTCACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACACATACACACTCACATAC AGACACAACCACACCACACACACACACACTCACATACAGACACAACCACA CCACACTCACACACACATACAG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02015.hp2 NA18747.hp1 others(4): Show HG00423.hp2 HG02015.hp2 NA18747.hp1 NA18939.hp2 NA19059.hp2 NA19074.hp2 NA19088.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0064 a0002c0002t0001g0068 a0002c0002t0001g0143 others(4): Show a0002c0002t0001g0064 a0002c0002t0001g0068 a0002c0002t0001g0143 a0002c0002t0001g0170 a0002c0002t0001g0279 a0002c0002t0001g0389 a0002c0002t0002g0121	7	460	0.0152	571	c.193 others(588): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACACATACACACTCA CATACAGACACAACCACACCACACTCACACACACATACACACTCACATAC AGACACAACCACACCACACTCACACACACATACACACTCACATACAGACA CAACCACACCACACTCACACACACACATACACACTCACATACAGACACAA CCACACCACACTCACACACACACATACACACTCACATACAGACACAACCA CACCACACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACATACAGTCACATACAGACACAACCACACCACACTCACACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACACATA CACACTCACATACAGACACAACCACACCACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(564): Show CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACACTCACATACAGACACAACCACACCACACTCACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACACATACACACTCACATA CAGACACAACCACACCACACTCACACACACACATACACACTCACATACAG ACACAACCACACCACACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACATACACAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0392 a0001c0001t0001g0392	1	460	0.0022	571	c.193 others(588): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACAC TCACATACAGACACAACCACACCACACTCACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACACATACACACTCACATACAGACACAACC ACACCACACTCACACACACACATACACACTCACATACAGACACAACCACA CCACACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACATACACAGTCACATACAGACACAACCACACCACACTCACACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACACATA CACACTCACATACAGACACAACCACACCACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181925	C C	CTCACATA others(564): Show CTCACATACAGACACAACCACACCACACTCACACACACACATACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACACACACATACACACTCACATACAGACAC AACCACACCACACTCACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACACACTCACATACAGACACAACCACACCACACTCACA CACACACACTCACATACAGACACAACCACACCACACTCACACACACACAT ACACACTCACATACAGACACAACCACACCACACTCACACACACATACACA CTCACATACAGACACAACCACACCACACTCACACACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACACATACACACTCACATA CAGACACAACCACACCACACTCACACACACACATACACACTCACATACAG ACACAACCACACCACACACACACACACTCACATACAGACACAACCACACC ACACTCACACACACATACACAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00735.hp1 HG00741.hp2 others(17): Show HG00597.hp1 HG00735.hp1 HG00741.hp2 HG01099.hp1 HG01123.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp1 HG01952.hp1 HG02004.hp2 HG02135.hp1 NA18967.hp1 NA18990.hp2 NA19006.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19082.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0009 a0002c0002t0001 a0001c0001t0001 a0001c0001t0009 a0002c0002t0001	a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0078 others(16): Show a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0078 a0001c0001t0001g0094 a0001c0001t0001g0112 a0001c0001t0001g0133 a0001c0001t0001g0192 a0001c0001t0001g0237 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0254 a0001c0001t0001g0338 a0001c0001t0001g0385 a0001c0001t0001g0405 a0001c0001t0001g0406 a0001c0001t0001g0412 a0001c0001t0009g0250 a0002c0002t0001g0276	20	460	0.0435	571	c.193 others(588): Show c.1938+737_1938+738insCACTCACATACAGACACAACCACACCAC ACTCACACATACACACTCACATACAGACACAACCACACCACACTCACACA CACACACTCACATACAGACACAACCACACCACACTCACACACACACACTC ACATACAGACACAACCACACCACACTCACACACACACATACACACTCACA TACAGACACAACCACACCACACTCACACACACATACACACTCACATACAG ACACAACCACACCACACTCACACACACATACACACTCACATACAGACACA ACCACACCACACTCACACACACACATACACACTCACATACAGACACAACC ACACCACACTCACACACACACATACACACTCACATACAGACACAACCACA CCACACACACACACACTCACATACAGACACAACCACACCACACTCACACA CACATACACAGTCACATACAGACACAACCACACCACACTCACACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACACATA CACACTCACATACAGACACAACCACACCACACACACACATACA	CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22		INFO_REALIGN_3_PRIME	chr6	TogoVar

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Search Results (Total: 10000 hits)