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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⚠️ 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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
PRPF6_chr20_63976132_64038100	64017230	ACCGCGCC others(257): Show ACCGCGCCCGGCCTCCCAGAGTGCTGGGATCACAGGCGTGAGCCGCCATG CCTGGCCTCCCAAAGTGCTGGGATCACAGGCGTGAGCCACCGCGCCCGGC CTCCCAGAGTGCTGGGATCACAGGCGTGAGCCACCGCGCCCGGCCTCCCA GAGTGCTGGGATCACAGGCGTGAGCCGCCGCGCCCGGCCTCCCAGAGTGC TGGGATCACAGGCGTGAGCCGCCCTGCCCGGCCTCCCAGAGTGCTGGGAT CACAGGCGTGAGCCG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0131	1	294	0.0034	-264	c.164 others(17): Show c.1647+432_1647+695del		PRPF6	ENSG00000101161.8	transcript	ENST00000266079.5	protein_coding	12/20					INFO_REALIGN_3_PRIME	chr20	TogoVar
RNF213_chr17_80255852_80403794	80315058	AGGTGATG others(257): Show AGGTGATGGTGGTGGTGAAGGTGATGGTGGAGGTAATGGAGGTGATGGTG GTAAAGGTGATGGTGGAGGTACTGGAGGTGATGGTGGTAAAGGTGATGGT GGAGGTAATGGAGGTGATGGTGGTGGACGTGATGGTGGAGGTAATGGAGG TGATGGTGGTGGTGGTGGTGGAGGTACTGGAGGTGATGGTGGTGGACGTG ATGGTGGAGGTAATGGAGGTGATGGTGGTGGTGGTGGTGGAGGTAATGGA GGTGATGGTGGTGGT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00733.hp1 HG01099.hp1 others(8): Show HG00642.hp1 HG00733.hp1 HG01099.hp1 HG01109.hp1 HG01192.hp1 HG01257.hp2 HG01358.hp2 HG01517.hp1 HG03516.hp2 HG03834.hp1 NA18945.hp1	a0002 a0004 a0012 others(3): Show a0002 a0004 a0012 a0029 a0066 a0084	a0002c0002 a0002c0061 a0004c0009 others(5): Show a0002c0002 a0002c0061 a0004c0009 a0012c0015 a0012c0123 a0029c0024 a0066c0057 a0084c0051	a0002c0002t0003 a0002c0002t0009 a0002c0061t0004 others(6): Show a0002c0002t0003 a0002c0002t0009 a0002c0061t0004 a0004c0009t0010 a0012c0015t0015 a0012c0123t0015 a0029c0024t0015 a0066c0057t0004 a0084c0051t0013	a0002c0002t0003g0230 a0002c0002t0009g0105 a0002c0061t0004g0190 others(8): Show a0002c0002t0003g0230 a0002c0002t0009g0105 a0002c0061t0004g0190 a0004c0009t0010g0057 a0012c0015t0015g0200 a0012c0015t0015g0201 a0012c0123t0015g0185 a0029c0024t0015g0059 a0029c0024t0015g0060 a0066c0057t0004g0091 a0084c0051t0013g0110	11	292	0.0377	-264	c.281 others(19): Show c.2811+1903_2812-1855del		RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	15/67					INFO_REALIGN_3_PRIME	chr17	TogoVar
RNGTT_chr6_88604897_88968618	88647720	AGAAGAAG others(257): Show AGAAGAAGAAAAGAAGGAAGGGAGGAAGGGAGAGAGGGAGGAGGGGAGGG AACGAAAAACATGCCCTGAACAAACTTAACCAATCAATCTGTTCTATTTT TCCTGAATCAAATCCTCTTATGAAAAGTAAGTCTAACAGACTTAGGCTTG ATTTTAAACTCTTAAGACACAAAACAACGATGAAAATACCTGAAATAACA ACTACGGAAAAGAAGAATCTTCCATGGCTTGACCTGTCAGATTCAAAGAT ATAATCAGTCACATT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0135 a0001c0001t0004g0135	1	220	0.0046	-264	c.150 others(21): Show c.1506+30369_1506+30632del		RNGTT	ENSG00000111880.16	transcript	ENST00000369485.9	protein_coding	14/15						chr6	TogoVar
RPS6KA6_chrX_84053350_84193199	84191575	CATATATA others(257): Show CATATATATATATATCCATATATATATCCATATATATATCCATATATATA TATCCATATATATATATCCATATATATATATCCATATATATATATCCATA TATATATATCCATATATATATATCCATATATATATATCCATATATATATA TCCATATATATATATCCATATATATATCCATATATATATATCCATATATA TATATCCATATATATATATCCATATATATATATCCATATATATATATCCA TATATATATATCCAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG00639.hp2 HG00673.hp1 others(35): Show HG00597.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01175.hp1 HG01256.hp1 HG01358.hp1 HG01928.hp1 HG02056.hp1 HG02132.hp1 HG02273.hp2 HG02293.hp2 HG02523.hp2 HG03239.hp1 HG03942.hp1 HG04199.hp1 HG04204.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18953.hp1 NA18963.hp2 NA18969.hp2 NA18971.hp1 NA18975.hp2 NA18990.hp1 NA18992.hp1 NA19000.hp1 NA19010.hp2 NA19064.hp1 NA19065.hp2 NA19072.hp1 NA19077.hp2 NA19081.hp1 NA19090.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 others(6): Show a0002c0002t0003 a0002c0002t0007 a0002c0002t0009 a0002c0002t0022 a0002c0002t0023 a0002c0002t0043 a0002c0002t0044 a0002c0002t0046 a0002c0002t0047	a0002c0002t0003g0003 a0002c0002t0003g0030 a0002c0002t0003g0043 others(34): Show a0002c0002t0003g0003 a0002c0002t0003g0030 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0053 a0002c0002t0003g0054 a0002c0002t0003g0055 a0002c0002t0003g0056 a0002c0002t0003g0057 a0002c0002t0003g0058 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0061 a0002c0002t0003g0064 a0002c0002t0003g0066 a0002c0002t0007g0028 a0002c0002t0007g0029 a0002c0002t0007g0032 a0002c0002t0007g0033 a0002c0002t0007g0034 a0002c0002t0007g0035 a0002c0002t0007g0036 a0002c0002t0007g0037 a0002c0002t0007g0039 a0002c0002t0009g0047 a0002c0002t0009g0049 a0002c0002t0009g0065 a0002c0002t0009g0067 a0002c0002t0022g0014 a0002c0002t0023g0031 a0002c0002t0023g0063 a0002c0002t0043g0038 a0002c0002t0044g0041 a0002c0002t0046g0048 a0002c0002t0047g0050	38	272	0.1397	-264	c.-39 others(11): Show c.-3940_-3677del		RPS6KA6	ENSG00000072133.12	transcript	ENST00000262752.5	protein_coding					3377		chrX	TogoVar
SCNN1D_chr1_1275436_1297025	1289251	CTCTGCTC others(257): Show CTCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCG TCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTG	C C	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0047 a0002c0002t0001g0047	1	290	0.0035	-264	c.166 others(18): Show c.1663-1006_1663-743del		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SIGIRR_chr11_400716_419999	401784	CGACCCCC others(257): Show CGACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGC TCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCTCACCCCCGACCCC CGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGA CCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGACCCCCGGCCCC GCTCACCCCCGGCTCCACTGACCCCGGCCCCGCTCACCCCGGACCCCGCT CACCCCCGACCCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	242	0.0041	-264	c.38 others(11): Show c.3848_*4111del		SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding					3931		chr11	TogoVar
SMYD3_chr1_245744347_246512279	245974465	TAAAGCCA others(257): Show TAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCA TCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATC GTCTCCGGCCCAGGG	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	150	0.0067	-264	c.532 others(19): Show c.532-44792_532-44529del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245974677	CAGGGAAA others(257): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0035 a0001c0006t0001g0035	1	150	0.0067	-264	c.532 others(19): Show c.532-45004_532-44741del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245975589	TAGGGAAA others(257): Show TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCTA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTGTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGC CATCGTCTCCGGCCC	T T	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0106 a0002c0005t0002g0106	1	150	0.0067	-264	c.532 others(19): Show c.532-45916_532-45653del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976160	CGGCCCAG others(257): Show CGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCG GCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGC CCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCC AGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAG GGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGG AAAGCCATCGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0020 a0001c0002t0001g0020	1	150	0.0067	-264	c.532 others(19): Show c.532-46487_532-46224del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976165	CAGGGAAA others(257): Show CAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCA GGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAA GCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03471.hp2 HG01952.hp2 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0002 a0001c0002t0001 a0002c0005t0002	a0001c0002t0001g0058 a0002c0005t0002g0115 a0001c0002t0001g0058 a0002c0005t0002g0115	2	150	0.0133	-264	c.532 others(19): Show c.532-46492_532-46229del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976257	GGCCCAGG others(257): Show GGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCCA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	150	0.0067	-264	c.532 others(19): Show c.532-46584_532-46321del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976449	GGCCCAGG others(257): Show GGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCGG CCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCCAGCCCA GGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCCAGCCCAGGGAAAGCCATCGTCTCCGGCCCAGGGA AAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0107 a0002c0004t0001g0107	1	150	0.0067	-264	c.532 others(19): Show c.532-46776_532-46513del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976693	CAGGGAAA others(257): Show CAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCCAGCCCA GGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTAGCCCAGG GAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGGAAA GCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGC CATCGTCTCTAGCCT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02886.hp2 HG01433.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0003 a0001c0006t0001g0025 a0001c0001t0001g0003 a0001c0006t0001g0025	2	150	0.0133	-264	c.532 others(19): Show c.532-47020_532-46757del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976736	CAGCCCAG others(257): Show CAGCCCAGGGAAAGCCATCGTCTCCGGCCTAGGGAAAGCCATCGTCTCTA GCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGC CTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCC AGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAG GGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCCGGCCCAGGG AAAGCCATCGTCTCT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	150	0.0067	-264	c.532 others(19): Show c.532-47063_532-46800del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976761	GGCCTAGG others(257): Show GGCCTAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAG CCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCC TAGGGAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGA AAGCCATCGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0063	1	150	0.0067	-264	c.532 others(19): Show c.532-47088_532-46825del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SMYD3_chr1_245744347_246512279	245976765	TAGGGAAA others(257): Show TAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGCCATCGTCTCTAGCCTA GGGAAAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGG GAAAGCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCTAGGGA AAGCCATCGTCTCTAGCCTAGGGAAAGCCATCGTCTCTAGCCTAGGGAAA GCCATCGTCTCCGGCCCAGGGAAAGCCATCGTCTCTAGCCCAGGGAAAGC CATCGTCTCTAGCCC	T T	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0087 a0001c0001t0002g0087	1	150	0.0067	-264	c.532 others(19): Show c.532-47092_532-46829del		SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11						chr1	TogoVar
SNTG2_chr2_945849_1372613	1316690	TTTGAGCA others(257): Show TTTGAGCATCAGGCCAGCATTCGAGAAGGTTGGGATTCTGGAGCACTTAG CATCAGGGCAGCATTGGAGAAGGTTGGGATTCTGGAACATTTAGCATCAG GTCAGCATTGGAGAAGGTTGGGATTCTGGAGCATTTAGCATGAGGCCAGC ATTGGAGAAGGCTGGGATTCTGGAGCGTTTAGCATGAGGCCAGCATTGGA GAAGGTTGGGATTCTGGAGCATTGAGCATCAGGCCAGCATTGGAGAAGGT TGGGATTCTGGAGCA	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01099.hp1 HG01257.hp2 others(24): Show HG00735.hp1 HG01099.hp1 HG01257.hp2 HG01346.hp2 HG02451.hp1 HG02486.hp1 HG02615.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp1 HG02717.hp2 HG02922.hp1 HG02976.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03710.hp1 HG03942.hp2 NA18522.hp2 NA18942.hp2 NA18968.hp2 NA18986.hp1 NA18990.hp2 NA19000.hp2 NA20129.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 others(6): Show a0001 a0003 a0006 a0008 a0010 a0011 a0016 a0017 a0023	a0001c0001 a0001c0002 a0003c0007 others(10): Show a0001c0001 a0001c0002 a0003c0007 a0003c0008 a0003c0026 a0006c0009 a0006c0010 a0008c0011 a0010c0012 a0011c0018 a0016c0034 a0017c0031 a0023c0027	a0001c0001t0001 a0001c0002t0002 a0003c0007t0001 others(11): Show a0001c0001t0001 a0001c0002t0002 a0003c0007t0001 a0003c0007t0002 a0003c0008t0001 a0003c0026t0001 a0006c0009t0001 a0006c0010t0001 a0008c0011t0001 a0010c0012t0001 a0011c0018t0001 a0016c0034t0001 a0017c0031t0001 a0023c0027t0001	a0001c0001t0001g0067 a0001c0002t0002g0076 a0003c0007t0001g0008 others(24): Show a0001c0001t0001g0067 a0001c0002t0002g0076 a0003c0007t0001g0008 a0003c0007t0001g0018 a0003c0007t0001g0080 a0003c0007t0001g0104 a0003c0007t0002g0075 a0003c0007t0002g0077 a0003c0008t0001g0013 a0003c0008t0001g0044 a0003c0008t0001g0060 a0003c0008t0001g0095 a0003c0008t0001g0106 a0003c0026t0001g0097 a0006c0009t0001g0049 a0006c0009t0001g0094 a0006c0010t0001g0006 a0008c0011t0001g0004 a0008c0011t0001g0128 a0008c0011t0001g0182 a0008c0011t0001g0188 a0010c0012t0001g0096 a0010c0012t0001g0147 a0011c0018t0001g0045 a0016c0034t0001g0146 a0017c0031t0001g0110 a0023c0027t0001g0127	27	190	0.1421	-264	c.148 others(17): Show c.1488+336_1488+599del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46183518	GGGAGACC others(257): Show GGGAGACCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGAGATCAGCCTGG GGGAGGAGACCAGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGACCAGCC TTGTGGGGGAGACCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGAGATCA GCCTGGGGGAGGAGACCAGCCTGGTGAGGAGACCAGCCTGGGGGAGGAGA CCAGCTTGCGGGGGAGACCAGCCTGCGGGGGAGACCAGCCTGGGCGGGGA GATCAGCCTGGGGGA	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG02280.hp1 HG02886.hp1 HG03195.hp1 HG02280.hp1 HG02886.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0043 a0001c0001t0022 a0001c0001t0043	a0001c0001t0022g0201 a0001c0001t0022g0202 a0001c0001t0043g0203 a0001c0001t0022g0201 a0001c0001t0022g0202 a0001c0001t0043g0203	3	251	0.0120	-264	c.-95 others(11): Show c.-958-8_-703del		SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding	2/5				703		chr21	TogoVar
SPIRE2_chr16_89823475_89876319	89834368	CGTAGAAG others(257): Show CGTAGAAGCCTGGATAAGCATAGCCCGTGTGAATCTGTGAACCTGCCCGC ACTCGCGGTTGGCCATCGTAGAAGCCTGGATAAGCATAGCCCGTGTGAAT CTGTGAACCTGCCCGCACTCGCGGTTGGCCATCGTAGAAGTGTGGATAAG CATAGCCCATGTGAATCTGTGAACCTGCCCGCATTCGCGGTTGGCCGTCG TAGAAGGCCCCATAAGCATAGCCCGTGTGAATCTGTGAACCTGCCCGCAC TCGCGGTTGGCCGTT	C C	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	356	0.0028	-264	c.244 others(17): Show c.244+5638_244+5901del		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89834432	ATCGTAGA others(257): Show ATCGTAGAAGCCTGGATAAGCATAGCCCGTGTGAATCTGTGAACCTGCCC GCACTCGCGGTTGGCCATCGTAGAAGTGTGGATAAGCATAGCCCATGTGA ATCTGTGAACCTGCCCGCATTCGCGGTTGGCCGTCGTAGAAGGCCCCATA AGCATAGCCCGTGTGAATCTGTGAACCTGCCCGCACTCGCGGTTGGCCGT TGTAGAAGCCTGGATAAGCATAGCCCGTGTGAATCTGTGAACCTGCCCGC ACTCGCGGTTGGCCG	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0015 a0015	a0015c0023 a0015c0023	a0015c0023t0001 a0015c0023t0001	a0015c0023t0001g0055 a0015c0023t0001g0055	1	356	0.0028	-264	c.244 others(17): Show c.244+5828_244+6091del		SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr16	TogoVar
SPTBN1_chr2_54451327_54676446	54466341	TAAGTATG others(257): Show TAAGTATGTTTATTCTTCGAGACCATCCTGGCTAACACGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGT AGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGAAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(242): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03831.hp1 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18978.hp2 NA18982.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19067.hp1 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(25): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0011 a0001c0012 a0001c0013 a0001c0014 a0001c0017 a0001c0018 a0001c0021 a0001c0023 a0001c0025 a0001c0026 a0001c0029 a0002c0006 a0004c0032 a0005c0028 a0006c0027 a0007c0024 a0008c0030 a0009c0022 a0010c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(69): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0029 a0001c0001t0044 a0001c0001t0049 a0001c0001t0050 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0028 a0001c0002t0046 a0001c0002t0047 a0001c0002t0048 a0001c0003t0003 a0001c0003t0004 a0001c0003t0009 a0001c0003t0024 a0001c0003t0027 a0001c0003t0032 a0001c0003t0033 a0001c0003t0036 a0001c0004t0002 a0001c0004t0004 a0001c0005t0003 a0001c0005t0008 a0001c0005t0011 a0001c0005t0012 a0001c0005t0021 a0001c0005t0025 a0001c0005t0031 a0001c0005t0034 a0001c0005t0043 a0001c0007t0001 a0001c0007t0013 a0001c0008t0005 a0001c0008t0026 a0001c0009t0002 a0001c0009t0007 a0001c0009t0010 a0001c0009t0045 a0001c0010t0002 a0001c0011t0003 a0001c0011t0023 a0001c0012t0016 a0001c0013t0015 a0001c0014t0001 a0001c0014t0037 a0001c0017t0002 a0001c0018t0007 a0001c0018t0042 a0001c0021t0001 a0001c0023t0005 a0001c0025t0003 a0001c0026t0006 a0001c0029t0007 a0002c0006t0003 a0004c0032t0004 a0005c0028t0001 a0006c0027t0003 a0007c0024t0009 a0008c0030t0030 a0009c0022t0051 a0010c0034t0001	a0001c0001t0001g0087 a0001c0001t0001g0156 a0001c0001t0002g0015 others(242): Show a0001c0001t0001g0087 a0001c0001t0001g0156 a0001c0001t0002g0015 a0001c0001t0002g0030 a0001c0001t0002g0079 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0090 a0001c0001t0002g0120 a0001c0001t0002g0123 a0001c0001t0002g0293 a0001c0001t0002g0351 a0001c0001t0002g0367 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0223 a0001c0001t0005g0291 a0001c0001t0005g0309 a0001c0001t0005g0353 a0001c0001t0007g0196 a0001c0001t0007g0270 a0001c0001t0007g0296 a0001c0001t0010g0238 a0001c0001t0014g0104 a0001c0001t0014g0105 a0001c0001t0014g0282 a0001c0001t0018g0180 a0001c0001t0018g0303 a0001c0001t0019g0031 a0001c0001t0019g0183 a0001c0001t0019g0241 a0001c0001t0022g0118 a0001c0001t0029g0100 a0001c0001t0044g0297 a0001c0001t0049g0076 a0001c0001t0050g0242 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0028 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0077 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0103 a0001c0002t0001g0115 a0001c0002t0001g0117 a0001c0002t0001g0121 a0001c0002t0001g0124 a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0186 a0001c0002t0001g0231 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0287 a0001c0002t0001g0307 a0001c0002t0001g0308 a0001c0002t0001g0310 a0001c0002t0001g0312 a0001c0002t0001g0324 a0001c0002t0001g0325 a0001c0002t0001g0326 a0001c0002t0001g0330 a0001c0002t0001g0331 a0001c0002t0001g0333 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0337 a0001c0002t0001g0359 a0001c0002t0004g0101 a0001c0002t0005g0122 a0001c0002t0006g0089 a0001c0002t0006g0114 a0001c0002t0006g0116 a0001c0002t0006g0148 a0001c0002t0006g0149 a0001c0002t0006g0154 a0001c0002t0006g0155 a0001c0002t0006g0157 a0001c0002t0006g0158 a0001c0002t0006g0159 a0001c0002t0006g0160 a0001c0002t0006g0271 a0001c0002t0006g0276 a0001c0002t0006g0278 a0001c0002t0006g0281 a0001c0002t0006g0284 a0001c0002t0006g0299 a0001c0002t0006g0313 a0001c0002t0006g0314 a0001c0002t0006g0323 a0001c0002t0006g0327 a0001c0002t0006g0328 a0001c0002t0028g0294 a0001c0002t0028g0295 a0001c0002t0046g0332 a0001c0002t0047g0279 a0001c0002t0048g0025 a0001c0003t0003g0008 a0001c0003t0003g0036 a0001c0003t0003g0037 a0001c0003t0003g0073 a0001c0003t0003g0074 a0001c0003t0003g0113 a0001c0003t0003g0138 a0001c0003t0003g0139 a0001c0003t0003g0177 a0001c0003t0003g0251 a0001c0003t0003g0256 a0001c0003t0003g0257 a0001c0003t0003g0262 a0001c0003t0003g0292 a0001c0003t0003g0304 a0001c0003t0003g0305 a0001c0003t0003g0319 a0001c0003t0003g0320 a0001c0003t0003g0355 a0001c0003t0003g0356 a0001c0003t0003g0357 a0001c0003t0003g0360 a0001c0003t0003g0366 a0001c0003t0004g0024 a0001c0003t0009g0227 a0001c0003t0009g0233 a0001c0003t0009g0234 a0001c0003t0009g0235 a0001c0003t0009g0236 a0001c0003t0009g0237 a0001c0003t0024g0362 a0001c0003t0024g0363 a0001c0003t0027g0053 a0001c0003t0027g0054 a0001c0003t0032g0321 a0001c0003t0033g0172 a0001c0003t0036g0361 a0001c0004t0002g0161 a0001c0004t0004g0107 a0001c0004t0004g0170 a0001c0004t0004g0193 a0001c0004t0004g0194 a0001c0004t0004g0195 a0001c0004t0004g0277 a0001c0004t0004g0358 a0001c0005t0003g0004 a0001c0005t0003g0005 a0001c0005t0003g0047 a0001c0005t0003g0181 a0001c0005t0003g0182 a0001c0005t0003g0190 a0001c0005t0003g0191 a0001c0005t0008g0041 a0001c0005t0008g0048 a0001c0005t0008g0049 a0001c0005t0008g0050 a0001c0005t0008g0062 a0001c0005t0008g0176 a0001c0005t0008g0269 a0001c0005t0008g0368 a0001c0005t0011g0038 a0001c0005t0011g0051 a0001c0005t0011g0253 a0001c0005t0011g0254 a0001c0005t0012g0369 a0001c0005t0012g0370 a0001c0005t0021g0040 a0001c0005t0021g0052 a0001c0005t0025g0240 a0001c0005t0025g0250 a0001c0005t0031g0187 a0001c0005t0034g0003 a0001c0005t0043g0039 a0001c0007t0001g0081 a0001c0007t0001g0119 a0001c0007t0001g0192 a0001c0007t0001g0222 a0001c0007t0001g0302 a0001c0007t0001g0311 a0001c0007t0013g0043 a0001c0007t0013g0044 a0001c0007t0013g0108 a0001c0007t0013g0137 a0001c0008t0005g0045 a0001c0008t0005g0046 a0001c0008t0005g0243 a0001c0008t0005g0244 a0001c0008t0005g0245 a0001c0008t0005g0260 a0001c0008t0005g0306 a0001c0008t0026g0364 a0001c0008t0026g0365 a0001c0009t0002g0285 a0001c0009t0007g0280 a0001c0009t0007g0286 a0001c0009t0007g0288 a0001c0009t0007g0289 a0001c0009t0007g0336 a0001c0009t0010g0088 a0001c0009t0045g0298 a0001c0010t0002g0140 a0001c0011t0003g0171 a0001c0011t0003g0228 a0001c0011t0003g0268 a0001c0011t0023g0229 a0001c0011t0023g0230 a0001c0012t0016g0026 a0001c0012t0016g0135 a0001c0012t0016g0153 a0001c0012t0016g0189 a0001c0013t0015g0255 a0001c0013t0015g0258 a0001c0013t0015g0259 a0001c0013t0015g0263 a0001c0014t0001g0013 a0001c0014t0001g0029 a0001c0014t0037g0011 a0001c0017t0002g0226 a0001c0018t0007g0112 a0001c0018t0042g0027 a0001c0021t0001g0197 a0001c0023t0005g0283 a0001c0025t0003g0352 a0001c0026t0006g0102 a0001c0029t0007g0290 a0002c0006t0003g0014 a0002c0006t0003g0016 a0002c0006t0003g0151 a0002c0006t0003g0152 a0002c0006t0003g0178 a0002c0006t0003g0179 a0002c0006t0003g0184 a0002c0006t0003g0185 a0002c0006t0003g0188 a0004c0032t0004g0329 a0005c0028t0001g0006 a0006c0027t0003g0075 a0007c0024t0009g0232 a0008c0030t0030g0174 a0009c0022t0051g0078 a0010c0034t0001g0002	245	370	0.6622	-264	c.-48 others(18): Show c.-48+9840_-48+10103del		SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr2	TogoVar
TM9SF3_chr10_96513110_96592012	96521598	TGTAACTG others(257): Show TGTAACTGTATAGTTTTAAGATAAATAAATGGGAAGTTGGTCCAACTAAG ATGACAGCAGATATATTACATGCAGGATTTAATATTTTCTAATTCTCTCT TTTAAAAAAAAGGATGCTGTTGGATTGGGAAAAAAAAAAAGTCAAAAAAG AACCCAGATTCAATATATAAAAATGTCCCACAATAGGTCGACAATGGCAG TAAAAATAAGAGGAAAAAAGTAATCTTTCTGGAACATCATTTTTCAATAA CATAGAAACACTAAG	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0199 a0001c0001t0023g0199	1	348	0.0029	-264	c.40 others(9): Show c.401_*664del		TM9SF3	ENSG00000077147.16	transcript	ENST00000371142.9	protein_coding	15/15				401		chr10	TogoVar
TRIP13_chr5_887884_923120	897741	TCAGTCAG others(257): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0145 a0001c0001t0002g0145	1	402	0.0025	-264	c.388 others(17): Show c.388+1079_388+1342del		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	898599	TCAGTCAG others(257): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp1 NA18983.hp1 others(1): Show HG03491.hp1 HG03492.hp1 NA18983.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0051 a0001c0001t0005g0038 a0001c0001t0001g0051 a0001c0001t0005g0038	4	402	0.0100	-264	c.389 others(17): Show c.389-1763_389-1500del		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TRIP13_chr5_887884_923120	899391	TCAGTCAG others(257): Show TCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCC AAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGAAACAGGTGGATTTGGA TGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATGCAGTCAGTGTGTGGGGA AACAGGTGGATTTGGATGGGCTCTGGCAGGCCAAGCCCAGGGCTTCATTC AGTCAGTGTGTGGGGAAACAGGTGGATTTGGATGGGCTCTGGCAGGCCAA GCCCAGGGCTTCATG	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0058 a0001c0001t0002g0058	1	402	0.0025	-264	c.389 others(15): Show c.389-971_389-708del		TRIP13	ENSG00000071539.14	transcript	ENST00000166345.8	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr5	TogoVar
TTLL8_chr22_50013575_50063298	50028644	ACCCCATC others(257): Show ACCCCATCACACCATCCTAAAGACCCCCACACACACTCGTAAAGACCCCA TCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACC GTCCTAAAGACCCCCACATACCCTCGTAAAGACCCCATCACACCGTCCTG AAGACCCCACACACCCTCGTAAAGACCCCCATCACGCTGTCCTAAAGACC CCCACATACCCTCGTAAAGACCCCCATCACACCATCCTAAAGACCCCACA TACCCTCGTAAAGAC	A A	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG03688.hp1 HG01255.hp2 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0063 a0002c0002t0002g0127 a0001c0001t0002g0063 a0002c0002t0002g0127	2	224	0.0089	-264	c.225 others(19): Show c.2251+1522_2251+1785del		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
TUBGCP2_chr10_133273635_133313872	133292114	ATGTCCCC others(257): Show ATGTCCCCCATGTCCCCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGG GCAGCATGCACACTCCGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCC CCGTGTCCCGGGGAGCCCTACCTGTACGGGAGAGGGCAGCATGCACACTC CGTGTCCCCCGTGTCCCTCCGTGTCCCCCATGTCCCCGTGTCCCGGGGAG CCCTACCTGTACGGGAGAGGGCAGCATGCACACTCCGTGTCCCCCGTGTC CCTCCGTGTCCCCCG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	284	0.0035	-264	c.121 others(17): Show c.1214+121_1214+384del		TUBGCP2	ENSG00000130640.15	transcript	ENST00000252936.8	protein_coding	8/17						chr10	TogoVar
UNC13A_chr19_17596336_17693354	17637673	TCTAATTT others(257): Show TCTAATTTAATCCAGTTCACCTCAACTCAATTCAAATGAGAGTGAGACTG ATTCCAACTCTAGTCAACTGAATGTAAAGGAACAGAATGAAATCAAATTG AACTGAACACAGCTTATGTGTTATATCCTATCAGAACCTGGGTAGGGGCT GCCTCCAGCTCCCACAGCCTCCTGAGATCCCACTATCTCAATACTAACCA TCCCTGTTTGTAAATTTCCAGTTTGTACATCTTTCCCTCATAATAGGCTA TAAGCTCCTTATAGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(257): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18942.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18977.hp2 NA18983.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0009 a0010	a0001c0001 a0001c0002 a0001c0003 others(67): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0024 a0001c0027 a0001c0028 a0001c0029 a0001c0030 a0001c0031 a0001c0032 a0001c0042 a0001c0044 a0001c0045 a0001c0046 a0001c0050 a0001c0052 a0001c0053 a0001c0054 a0001c0055 a0001c0056 a0001c0057 a0001c0058 a0001c0060 a0001c0061 a0001c0062 a0001c0063 a0001c0066 a0001c0067 a0001c0069 a0001c0070 a0001c0071 a0001c0072 a0002c0005 a0002c0006 a0002c0009 a0002c0012 a0002c0013 a0002c0017 a0002c0018 a0002c0019 a0002c0026 a0002c0033 a0002c0034 a0002c0036 a0002c0038 a0002c0039 a0002c0040 a0002c0041 a0002c0059 a0003c0010 a0003c0037 a0004c0048 a0004c0049 a0004c0064 a0005c0025 a0006c0068 a0007c0051 a0009c0043 a0010c0035	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(137): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0034 a0001c0001t0046 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0012 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0002t0025 a0001c0002t0027 a0001c0002t0028 a0001c0002t0029 a0001c0002t0031 a0001c0002t0032 a0001c0002t0038 a0001c0002t0039 a0001c0002t0042 a0001c0002t0044 a0001c0002t0045 a0001c0003t0001 a0001c0003t0003 a0001c0003t0007 a0001c0003t0017 a0001c0003t0040 a0001c0003t0048 a0001c0004t0001 a0001c0004t0004 a0001c0004t0007 a0001c0004t0009 a0001c0004t0010 a0001c0004t0011 a0001c0004t0018 a0001c0004t0021 a0001c0004t0041 a0001c0004t0049 a0001c0007t0001 a0001c0007t0003 a0001c0007t0005 a0001c0007t0008 a0001c0007t0025 a0001c0008t0002 a0001c0008t0026 a0001c0011t0001 a0001c0011t0010 a0001c0011t0020 a0001c0014t0001 a0001c0015t0006 a0001c0015t0022 a0001c0016t0002 a0001c0020t0001 a0001c0020t0005 a0001c0021t0014 a0001c0022t0008 a0001c0022t0024 a0001c0023t0001 a0001c0023t0047 a0001c0024t0001 a0001c0024t0019 a0001c0027t0002 a0001c0027t0014 a0001c0028t0002 a0001c0029t0006 a0001c0029t0022 a0001c0030t0001 a0001c0031t0001 a0001c0032t0008 a0001c0042t0001 a0001c0044t0001 a0001c0045t0035 a0001c0046t0001 a0001c0050t0033 a0001c0052t0002 a0001c0053t0023 a0001c0054t0009 a0001c0055t0001 a0001c0056t0002 a0001c0057t0024 a0001c0058t0001 a0001c0060t0002 a0001c0061t0001 a0001c0062t0002 a0001c0063t0001 a0001c0066t0019 a0001c0067t0004 a0001c0069t0001 a0001c0070t0001 a0001c0071t0002 a0001c0072t0003 a0002c0005t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0006 a0002c0005t0009 a0002c0005t0020 a0002c0006t0001 a0002c0006t0003 a0002c0006t0006 a0002c0006t0016 a0002c0006t0017 a0002c0009t0005 a0002c0009t0043 a0002c0012t0001 a0002c0012t0006 a0002c0013t0002 a0002c0017t0001 a0002c0017t0013 a0002c0018t0002 a0002c0019t0003 a0002c0019t0008 a0002c0026t0002 a0002c0033t0030 a0002c0034t0002 a0002c0036t0002 a0002c0038t0023 a0002c0039t0021 a0002c0040t0014 a0002c0041t0036 a0002c0059t0009 a0003c0010t0001 a0003c0010t0006 a0003c0010t0013 a0003c0037t0001 a0004c0048t0005 a0004c0049t0006 a0004c0064t0005 a0005c0025t0001 a0006c0068t0002 a0007c0051t0001 a0009c0043t0001 a0010c0035t0001	a0001c0001t0001g0016 a0001c0001t0001g0080 a0001c0001t0001g0106 others(257): Show a0001c0001t0001g0016 a0001c0001t0001g0080 a0001c0001t0001g0106 a0001c0001t0001g0123 a0001c0001t0001g0134 a0001c0001t0001g0143 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0179 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0216 a0001c0001t0001g0220 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0003g0032 a0001c0001t0003g0224 a0001c0001t0004g0246 a0001c0001t0007g0232 a0001c0001t0034g0303 a0001c0001t0046g0199 a0001c0002t0001g0113 a0001c0002t0001g0157 a0001c0002t0001g0178 a0001c0002t0001g0193 a0001c0002t0001g0229 a0001c0002t0001g0308 a0001c0002t0003g0067 a0001c0002t0003g0096 a0001c0002t0003g0131 a0001c0002t0003g0155 a0001c0002t0004g0140 a0001c0002t0004g0227 a0001c0002t0007g0013 a0001c0002t0007g0172 a0001c0002t0007g0257 a0001c0002t0008g0026 a0001c0002t0008g0057 a0001c0002t0008g0284 a0001c0002t0009g0176 a0001c0002t0010g0033 a0001c0002t0010g0069 a0001c0002t0010g0097 a0001c0002t0011g0039 a0001c0002t0011g0062 a0001c0002t0011g0184 a0001c0002t0011g0290 a0001c0002t0012g0076 a0001c0002t0012g0294 a0001c0002t0012g0304 a0001c0002t0018g0104 a0001c0002t0018g0269 a0001c0002t0019g0092 a0001c0002t0020g0025 a0001c0002t0025g0315 a0001c0002t0027g0287 a0001c0002t0028g0053 a0001c0002t0029g0167 a0001c0002t0031g0298 a0001c0002t0032g0099 a0001c0002t0038g0037 a0001c0002t0039g0234 a0001c0002t0042g0038 a0001c0002t0044g0093 a0001c0002t0045g0164 a0001c0003t0001g0012 a0001c0003t0001g0023 a0001c0003t0001g0031 a0001c0003t0001g0040 a0001c0003t0001g0063 a0001c0003t0001g0102 a0001c0003t0001g0111 a0001c0003t0001g0115 a0001c0003t0001g0118 a0001c0003t0001g0133 a0001c0003t0001g0151 a0001c0003t0001g0153 a0001c0003t0001g0197 a0001c0003t0001g0200 a0001c0003t0001g0206 a0001c0003t0001g0207 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0214 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0228 a0001c0003t0001g0248 a0001c0003t0001g0285 a0001c0003t0001g0291 a0001c0003t0001g0305 a0001c0003t0003g0110 a0001c0003t0003g0162 a0001c0003t0003g0263 a0001c0003t0007g0208 a0001c0003t0017g0045 a0001c0003t0040g0024 a0001c0003t0048g0158 a0001c0004t0001g0019 a0001c0004t0001g0128 a0001c0004t0001g0149 a0001c0004t0001g0212 a0001c0004t0001g0238 a0001c0004t0004g0272 a0001c0004t0007g0150 a0001c0004t0009g0186 a0001c0004t0010g0050 a0001c0004t0010g0244 a0001c0004t0011g0058 a0001c0004t0018g0060 a0001c0004t0021g0074 a0001c0004t0041g0112 a0001c0004t0049g0317 a0001c0007t0001g0042 a0001c0007t0001g0048 a0001c0007t0003g0073 a0001c0007t0005g0173 a0001c0007t0008g0065 a0001c0007t0008g0213 a0001c0007t0025g0320 a0001c0008t0002g0034 a0001c0008t0002g0071 a0001c0008t0002g0075 a0001c0008t0002g0095 a0001c0008t0002g0274 a0001c0008t0002g0276 a0001c0008t0002g0277 a0001c0008t0002g0289 a0001c0008t0026g0084 a0001c0011t0001g0089 a0001c0011t0001g0156 a0001c0011t0001g0299 a0001c0011t0010g0044 a0001c0011t0020g0035 a0001c0014t0001g0081 a0001c0014t0001g0130 a0001c0014t0001g0254 a0001c0015t0006g0090 a0001c0015t0006g0302 a0001c0015t0022g0152 a0001c0016t0002g0066 a0001c0016t0002g0091 a0001c0016t0002g0260 a0001c0020t0001g0005 a0001c0020t0005g0077 a0001c0021t0014g0318 a0001c0021t0014g0319 a0001c0022t0008g0185 a0001c0022t0024g0061 a0001c0023t0001g0056 a0001c0023t0047g0275 a0001c0024t0001g0051 a0001c0024t0019g0100 a0001c0027t0002g0055 a0001c0027t0014g0314 a0001c0028t0002g0082 a0001c0028t0002g0198 a0001c0029t0006g0245 a0001c0029t0022g0147 a0001c0030t0001g0127 a0001c0030t0001g0247 a0001c0031t0001g0117 a0001c0032t0008g0163 a0001c0042t0001g0226 a0001c0044t0001g0300 a0001c0045t0035g0183 a0001c0046t0001g0280 a0001c0050t0033g0083 a0001c0052t0002g0052 a0001c0053t0023g0059 a0001c0054t0009g0293 a0001c0055t0001g0103 a0001c0056t0002g0124 a0001c0057t0024g0233 a0001c0058t0001g0107 a0001c0060t0002g0192 a0001c0061t0001g0240 a0001c0062t0002g0105 a0001c0063t0001g0043 a0001c0066t0019g0054 a0001c0067t0004g0264 a0001c0069t0001g0261 a0001c0070t0001g0312 a0001c0071t0002g0313 a0001c0072t0003g0311 a0002c0005t0001g0047 a0002c0005t0001g0064 a0002c0005t0001g0141 a0002c0005t0001g0273 a0002c0005t0001g0288 a0002c0005t0003g0168 a0002c0005t0004g0119 a0002c0005t0004g0120 a0002c0005t0006g0310 a0002c0005t0009g0180 a0002c0005t0020g0088 a0002c0006t0001g0015 a0002c0006t0001g0281 a0002c0006t0001g0283 a0002c0006t0001g0301 a0002c0006t0003g0266 a0002c0006t0006g0278 a0002c0006t0016g0292 a0002c0006t0016g0296 a0002c0006t0017g0309 a0002c0009t0005g0006 a0002c0009t0005g0007 a0002c0009t0005g0008 a0002c0009t0005g0182 a0002c0009t0043g0225 a0002c0012t0001g0129 a0002c0012t0001g0169 a0002c0012t0001g0175 a0002c0012t0006g0181 a0002c0013t0002g0078 a0002c0013t0002g0202 a0002c0013t0002g0307 a0002c0017t0001g0086 a0002c0017t0013g0021 a0002c0018t0002g0159 a0002c0018t0002g0258 a0002c0019t0003g0072 a0002c0019t0008g0036 a0002c0026t0002g0243 a0002c0026t0002g0252 a0002c0033t0030g0142 a0002c0034t0002g0098 a0002c0036t0002g0004 a0002c0038t0023g0085 a0002c0039t0021g0027 a0002c0040t0014g0316 a0002c0041t0036g0279 a0002c0059t0009g0126 a0003c0010t0001g0070 a0003c0010t0006g0306 a0003c0010t0013g0014 a0003c0010t0013g0017 a0003c0010t0013g0161 a0003c0037t0001g0282 a0004c0048t0005g0177 a0004c0049t0006g0286 a0004c0064t0005g0136 a0005c0025t0001g0029 a0005c0025t0001g0087 a0006c0068t0002g0003 a0007c0051t0001g0259 a0009c0043t0001g0204 a0010c0035t0001g0002	260	320	0.8125	-264	c.308 others(19): Show c.3081+1146_3081+1409del		UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	25/43						chr19	TogoVar
ZBTB7C_chr18_48021672_48414383	48259259	TGATTTTT others(257): Show TGATTTTTGACAAGAGTGTAAAAGCAATTCAATGGGAAAAGGATAGTCTT TTCAACAAATCTTGATGAAACAATGAGATATTCTTTTGCAAAAAAGCTAA ATATATACCTTCTACCATACACAAAATAAACTCAAAAGGGACCACTGTCC TTAATGTAAAACCTAAAACTATAGAATTTTTGGACAAAAACAAGAGAAAA ATCTTTCTGACCTTCAGTTAGGCAATAATGTCTTAGATATGACACAAAAA GCACTATACATAAAA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01169.hp1 HG01192.hp1 others(21): Show HG00738.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01934.hp2 HG02109.hp1 HG02258.hp1 HG02615.hp1 HG02622.hp1 HG02717.hp2 HG02723.hp2 HG02897.hp1 HG03130.hp1 HG03195.hp2 HG03491.hp1 HG04115.hp1 NA18522.hp2 NA18942.hp2 NA18974.hp2 NA18983.hp1 NA18990.hp1 NA19010.hp2 NA19057.hp1 NA20905.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0030 a0001c0001t0043 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0023 a0001c0002t0046 a0001c0003t0031 a0001c0006t0002 a0001c0011t0040 a0004c0009t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 others(21): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0052 a0001c0001t0001g0073 a0001c0001t0001g0091 a0001c0001t0001g0113 a0001c0001t0002g0106 a0001c0001t0004g0096 a0001c0001t0007g0172 a0001c0001t0030g0017 a0001c0001t0043g0156 a0001c0002t0002g0009 a0001c0002t0002g0084 a0001c0002t0003g0158 a0001c0002t0003g0162 a0001c0002t0007g0166 a0001c0002t0023g0097 a0001c0002t0046g0169 a0001c0003t0031g0070 a0001c0006t0002g0087 a0001c0011t0040g0155 a0004c0009t0001g0089	24	174	0.1379	-264	c.-78 others(19): Show c.-78-73528_-78-73265del		ZBTB7C	ENSG00000184828.10	transcript	ENST00000590800.6	protein_coding	2/4						chr18	TogoVar
ZCCHC2_chr18_62518025_62583579	62580957	TGCTGTGG others(257): Show TGCTGTGGAAGGCGAGGTGGACCCCTCCCGAGATGGTGTCACAGTGCTGT GGAAGGCGAGGTGGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGG CCAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCCAGGT GGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCC CTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCG AGACGGTGTCACAGC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01516.hp2 others(26): Show HG00140.hp2 HG00733.hp2 HG01516.hp2 HG01517.hp1 HG02145.hp1 HG02258.hp1 HG02280.hp2 HG02559.hp2 HG02572.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02970.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG04228.hp1 HG06807.hp1 NA19030.hp1 NA19030.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0006 others(2): Show a0001 a0002 a0006 a0009 a0019	a0001c0006 a0001c0015 a0001c0018 others(6): Show a0001c0006 a0001c0015 a0001c0018 a0001c0041 a0002c0009 a0002c0013 a0006c0020 a0009c0028 a0019c0047	a0001c0006t0004 a0001c0006t0006 a0001c0015t0006 others(9): Show a0001c0006t0004 a0001c0006t0006 a0001c0015t0006 a0001c0018t0006 a0001c0041t0004 a0002c0009t0004 a0002c0009t0006 a0002c0009t0018 a0002c0013t0004 a0006c0020t0006 a0009c0028t0004 a0019c0047t0006	a0001c0006t0004g0111 a0001c0006t0004g0112 a0001c0006t0004g0141 others(26): Show a0001c0006t0004g0111 a0001c0006t0004g0112 a0001c0006t0004g0141 a0001c0006t0004g0143 a0001c0006t0004g0169 a0001c0006t0004g0171 a0001c0006t0004g0172 a0001c0006t0004g0173 a0001c0006t0004g0174 a0001c0006t0004g0175 a0001c0006t0004g0176 a0001c0006t0004g0190 a0001c0006t0006g0189 a0001c0015t0006g0068 a0001c0015t0006g0072 a0001c0015t0006g0073 a0001c0018t0006g0215 a0001c0018t0006g0216 a0001c0041t0004g0207 a0002c0009t0004g0298 a0002c0009t0006g0082 a0002c0009t0006g0238 a0002c0009t0006g0260 a0002c0009t0018g0261 a0002c0009t0018g0286 a0002c0013t0004g0016 a0006c0020t0006g0152 a0009c0028t0004g0187 a0019c0047t0006g0299	29	312	0.0930	-264	c.43 others(11): Show c.4379_*4642del		ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding					2379		chr18	TogoVar
ZCCHC2_chr18_62518025_62583579	62580990	TGGTGTCA others(257): Show TGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCCGAGACGGTGT CACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGT GCTGTGGAAGGCCAGGTGGACCCCTCCCGAGACGGTGTCACAGCGCTGTG GAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGGC CAGGTGGACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTG GACCCCTCCCGAGAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0018 a0018	a0018c0046 a0018c0046	a0018c0046t0009 a0018c0046t0009	a0018c0046t0009g0300 a0018c0046t0009g0300	1	312	0.0032	-264	c.44 others(11): Show c.4412_*4675del		ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding					2412		chr18	TogoVar
ZCCHC2_chr18_62518025_62583579	62581234	CAGGTGGA others(257): Show CAGGTGGACCCCTCCCGAGACGGTGTCACAGTGCTGTGGAAGGCCAGGTG GACCCCTCCCGAGACGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCC TCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGA GACGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCCGAGATGGT GTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCTGAGATGGTGTCACA GTGCTGTGGAAGGCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG03098.hp1 HG03098.hp2 others(1): Show HG02258.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp2	a0004 a0008 a0004 a0008	a0004c0016 a0008c0023 a0004c0016 a0008c0023	a0004c0016t0014 a0008c0023t0009 a0004c0016t0014 a0008c0023t0009	a0004c0016t0014g0050 a0004c0016t0014g0217 a0004c0016t0014g0218 others(1): Show a0004c0016t0014g0050 a0004c0016t0014g0217 a0004c0016t0014g0218 a0008c0023t0009g0012	4	312	0.0128	-264	c.46 others(11): Show c.4656_*4919del		ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding					2656		chr18	TogoVar
ZCCHC2_chr18_62518025_62583579	62581498	GAGGTGGA others(257): Show GAGGTGGACCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTG GACCCCTCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCC TCCCGAGATGGTGTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGA GATGGTGTCACAGTGCTGTGGAAGGCGAGGTGGACCCCTCCCGAGATGGT GTCACAGCGCTGTGGAAGGCCAGGTGGACCCCTCCCGAGATGGTGTCACA GCGCTGTGGAAGGCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0070 a0001c0004t0003g0070	1	312	0.0032	-264	c.49 others(11): Show c.4920_*5183del		ZCCHC2	ENSG00000141664.10	transcript	ENST00000269499.10	protein_coding					2920		chr18	TogoVar
ZNF484_chr9_92839182_92883038	92872231	CAAAAAAA others(257): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAGTTAAAGCAGAGGCAATAAAAGA GAGTCAGAGAAAGATGCGACTACAAAAGAGTGGTCAGAGAGATACAATGT TGATGGCTTTGAAGTTGGAGGAAAGGGCCACAAACTGAAATGTGAGCACC CACTAGAAGCTAGAAAAGTCAGAAAATAGAAACAGATTCTTTCAGGTTGC GGTGAGCCGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAA TCTCTGCCTCAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00609.hp2 others(87): Show HG00099.hp1 HG00140.hp2 HG00609.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01168.hp2 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG02074.hp2 HG02145.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp1 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 HG06807.hp2 NA18747.hp1 NA18959.hp1 NA18961.hp1 NA18973.hp2 NA18974.hp2 NA18978.hp1 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA19001.hp2 NA19006.hp1 NA19010.hp1 NA19030.hp1 NA19078.hp1 NA19090.hp2 NA19240.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0004c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(37): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0065 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0189 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0007g0188 a0001c0001t0011g0176 a0001c0001t0012g0177 a0004c0004t0001g0161	90	402	0.2239	-264	c.15+ others(15): Show c.15+2520_15+2783del		ZNF484	ENSG00000127081.14	transcript	ENST00000375495.8	protein_coding	2/4						chr9	TogoVar
ACSBG2_chr19_6130667_6198091	6152288	TTTTTTTT others(256): Show TTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTG CGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGT TCACGCCATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGACTACAGGCGC CCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTT CACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCG CCTCGGCCTCCCAA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0131 a0003c0004t0002g0131	1	262	0.0038	-263	c.386 others(15): Show c.386+507_386+769del		ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	4/14					INFO_REALIGN_3_PRIME	chr19	TogoVar
ADARB2_chr10_1172313_1742525	1237009	CCCCTCTG others(256): Show CCCCTCTGCCTCCCGGTGTTCACTCCCCTCTGCCTCCCGGTGTTTACTCC CCTCTGCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCCCC CCTGCCTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTC TCCCTCCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTCTC CCTCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGCCC TCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0082 a0002c0002t0004g0082	1	106	0.0094	-263	c.136 others(19): Show c.1362-3427_1362-3165del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
ADARB2_chr10_1172313_1742525	1237057	CCCCTCTG others(256): Show CCCCTCTGCCTCCGGTGGTTAATTCCCTCTTGCCTCCGGTGGTTAACTCC CCCCTGCCTCCGGTTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCC TCTCCCTCCGGGTGTTAACTCCCCCCTGCCTCCGGGTGTTAACTCCCCTC TCCCTCCGGTGTTTACTCCCCTCTGCCTCCCGGTGTTTACTCCCCTCTGC CCTCCCGGTGTTTACTCCCCCCTGCCTCCCGGTGTTTACTCCCCTCTCCC TCCCGGTGTTTACT	C C	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0002 a0002c0002t0007g0002	1	106	0.0094	-263	c.136 others(19): Show c.1362-3475_1362-3213del		ADARB2	ENSG00000185736.16	transcript	ENST00000381312.6	protein_coding	5/9						chr10	TogoVar
AMFR_chr16_56356452_56430545	56397911	AATATATA others(256): Show AATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAATATA TAAATGTATCATTTATAATATATAAATGTATCATTTATAATATATAAATG TATCATTTATAATATATAAATGTATCATTTATAATATATAAATGTATCAT TTATAATATATAAATGTATCATTTATAATATATAAATGTATCATTTATAA TATATAAATGTATCATTTATAATATATAACTCTATCATTTATAATATATA ACTCTATCATTTAT	A A	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	356	0.0028	-263	c.108 others(19): Show c.1085+3559_1085+3821del		AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	8/13						chr16	TogoVar
ARHGAP8_chr22_44747575_44867784	44800533	CCTCCCCG others(256): Show CCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCC ATGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCC CTCCCCGCAGCTGTCCATGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCCA TGTGTGGGGGGCGCCCCTCCCCGCAGCTGTCCGTGTGAGGGGGTGCCTCT CCCCGCAGCTGTCCGTGTGTGGGGGCCGCCTCTCCCCGCAGCTGTCCGTG TGTGGGGGCCGCCT	C C	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0202 a0001c0007t0001g0202	1	390	0.0026	-263	c.80- others(15): Show c.80-1527_80-1265del		ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr22	TogoVar
C1QTNF12_chr1_1237453_1251722	1248054	CAGGCTGG others(256): Show CAGGCTGGATCTCCAACTCTGACCTACAGGCAGGAAAGTGGGCAGCCCTG GGAGGCTGGACTGAGGGAGGCTGGACTTCCCACTCAGGCCTACACGCAGG AAAATGGGCAGCCCTGGGAGGCTGGACCGAGGGAGGCTGGGCCTCCCACT CCACCCTACAGGCCAGGACACGGGCAGCCCTGGGAGGCTAGACCGAGGGA GGCTGGGCCTCCCATCTACCCTACAGGCCGGGACACAGGCAGCCCTGGGA GGCTGTACCGAGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp2 others(66): Show HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00558.hp1 HG00597.hp1 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01074.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02280.hp1 HG02523.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG03041.hp1 HG03041.hp2 HG03195.hp2 HG03225.hp1 HG04115.hp2 NA18612.hp2 NA18747.hp1 NA18906.hp2 NA18940.hp1 NA18951.hp1 NA18952.hp1 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18960.hp2 NA18966.hp1 NA18972.hp2 NA18977.hp2 NA18983.hp2 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp2 NA19056.hp1 NA19062.hp2 NA19067.hp1 NA19070.hp1 NA19080.hp1 NA19081.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0012	a0001c0001 a0002c0002 a0002c0020 others(3): Show a0001c0001 a0002c0002 a0002c0020 a0002c0021 a0007c0006 a0012c0023	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(5): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0008 a0002c0020t0007 a0002c0021t0002 a0007c0006t0001 a0012c0023t0001	a0001c0001t0001g0005 a0001c0001t0001g0102 a0001c0001t0001g0109 others(28): Show a0001c0001t0001g0005 a0001c0001t0001g0102 a0001c0001t0001g0109 a0002c0002t0001g0007 a0002c0002t0001g0020 a0002c0002t0001g0044 a0002c0002t0001g0089 a0002c0002t0001g0093 a0002c0002t0001g0096 a0002c0002t0001g0099 a0002c0002t0001g0101 a0002c0002t0002g0003 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0045 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0086 a0002c0002t0002g0088 a0002c0002t0002g0094 a0002c0002t0002g0100 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0113 a0002c0002t0008g0107 a0002c0020t0007g0097 a0002c0021t0002g0098 a0007c0006t0001g0012 a0012c0023t0001g0117	69	328	0.2104	-263	c.-16 others(11): Show c.-1627_-1365del		C1QTNF12	ENSG00000184163.3	transcript	ENST00000330388.2	protein_coding					1333		chr1	TogoVar
CACNG7_chr19_53904278_53948950	53919647	TCATTGGT others(256): Show TCATTGGTGGAGTTGTCCCCAGGCCTGGTATTGGTGGAGTTGCCCCAGGT CTGGTCATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGAGTTGCCCAG GTCTGGTATTGGTGGAGTTGCCCCAGGCTGGTCATTGGTGGACTTGCCCC AGGCCCGGTATTGGTGGAGTTGCCCCAGGTCTGGTCATTGGTGGAGTTGC CCCAGGCTGGTCATTGGTGGACTTGCCCCAGGCTGGTCATTGGTGGACTT GCCCCAGGCTGGTC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01891.hp2 HG03209.hp1 others(1): Show HG01243.hp2 HG01891.hp2 HG03209.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 others(1): Show a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0355	4	364	0.0110	-263	c.424 others(17): Show c.424+4143_424+4405del		CACNG7	ENSG00000105605.8	transcript	ENST00000391767.6	protein_coding	4/5						chr19	TogoVar
CDC34_chr19_526760_547087	540535	CCCCCCGG others(256): Show CCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTT AGAATCCGGAGGCCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGG CCGGGGTGGCCAGGCCCCCCGGGTTTAGAATCCGGAGGCCGGGGTGGCCA GGCCCCCCACGTTTAGAATCCGGAGGCCGGGGTGGCCAGGCCCCCGGGTT TAGAATCCGGAGGCTGGGATGGCCAGGCCCCCGGGTTTAGAATCCAGAGG CTGGGATGGCCAGG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0052 a0001c0007t0002g0052	1	328	0.0031	-263	c.498 others(15): Show c.498-798_498-536del		CDC34	ENSG00000099804.9	transcript	ENST00000215574.9	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CDC73_chr1_193117031_193259815	193161676	AATATATA others(256): Show AATATATATAATATATAATATATTATATATCTATCATATAATATAATATA TATAATATATAATATATATCATATTATATTGTATATAATATATATCATAT TATATTGTATATAATATATATCATATTATATTGTATATAATATATATCAT ATTATATTGTATATAATATATATCATATTATATTGTATATAATATATATC ATATTATATTGTATATAATATATATCATATTATATTGTATATAATATATA TCATATTATATTGT	A A	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0107 a0001c0001t0012g0107	1	274	0.0037	-263	c.972 others(17): Show c.972+9238_972+9500del		CDC73	ENSG00000134371.14	transcript	ENST00000367435.5	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr1	TogoVar
CDK12_chr17_39456486_39539544	39498945	TTCTTTCT others(256): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01069.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0210 a0001c0001t0001g0124 a0001c0001t0001g0210	2	260	0.0077	-263	c.242 others(19): Show c.2420-2303_2420-2041del		CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr17	TogoVar
CEL_chr9_133056981_133076861	133071373	CCCCCGTG others(256): Show CCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGCCGCCCACG GGTGACTCCGGGGCCCCCCCCGTGCCGCCCACGGGTGACTCCGGGGCCCC CCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCCCCCGTGCCGCCCACGG GTGACGCCGGGCCCCCCCCCGTGCCGCCCACGGGTGACTCCGGCGCCCCC CCCGTGCCGCCCACGGGTGACTCCGGGGCCCCCCCCGTGACCCCCACGGG TGACTCCGAGACCG	C C	frameshift_variant frameshift_variant	HIGH	HG03195.hp1 HG03195.hp1	a0034 a0034	a0034c0053 a0034c0053	a0034c0053t0001 a0034c0053t0001	a0034c0053t0001g0017 a0034c0053t0001g0017	1	416	0.0024	-263	c.187 others(9): Show c.1876_2138del	p.Val others(5): Show p.Val626fs	CEL	ENSG00000170835.17	transcript	ENST00000372080.8	protein_coding	11/11	1898/2381	1876/2262	626/753		INFO_REALIGN_3_PRIME	chr9	TogoVar
DHRSX_chrX_2214506_2505976	2282033	AAGAGAGA others(256): Show AAGAGAGATGGAGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGG AGAGAGAAGGAGGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGG AGAGGGAACGGGGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGA AGAGGAGGAAATGGGGGAAAGAGAGAGAAAGAGAGATGGAGAGGGAACGG GGAGAGAGAGGGAGGGCAAACGAGAGGGAGAGAGAAGGAAGAGGAGGAAA TGGGGGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA19079.hp1 NA18960.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0044 a0001c0001t0001g0019 a0001c0001t0001g0044	2	50	0.0400	-263	c.388 others(17): Show c.388+9206_388+9468del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	4/6						chrX	TogoVar
DHRSX_chrX_2214506_2505976	2296458	GAGGCAGA others(256): Show GAGGCAGACAGGAATAGGACCCAGGCAGATAGGAATAGGACCCAGGCAGA TAGACCCAGGCAGACAGGAATAGGACCCAGGCAGATAGACCCCAGGCAGA TAGGAATAGGACCCAGGCAGATAGGAATAGGACCCAGGCAGATAGACCCC AGGCAGATAGGAATAGGACCCAGGCAGATAGGAATAGGACCCAGGCAGAT AGACCCCAGGCAGATAGGAATAGGACCCAGGCAGATAGGAATAGGACCCA GGCAGATAGACCCC	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0027 a0001c0001t0012g0027	1	50	0.0200	-263	c.287 others(17): Show c.287-5118_287-4856del		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6						chrX	TogoVar
DLGAP2_chr8_732628_1713476	939382	GAGGGGCT others(256): Show GAGGGGCTGGGGTGCCTGGGAGTGGGAGGTGCACACACAGGGGCTGGGGT GCCTGGGAGTGGGAGGTGCACACACAGGGGCTGGGGTGCCTGGGAGTGGG AGGTGCAGACACAGAGGGGCTGGGGTGCCTGGGAGTGGGAGGTGCACACA CAGGGGCTGGGGTGCCTGGGAGTGGGAGGTGCACACACAGAGGGGCTGGG GTGCCTGGGAGTGGGAGGTGCACACACAGGGGCTGGGGTGCCTGGGAGTG GGAGGTGCACACAC	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0039 a0001c0002t0009g0039	1	40	0.0250	-263	c.73+ others(17): Show c.73+31449_73+31711del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
EHMT1_chr9_137614005_137841127	137818671	GGCGCCGT others(256): Show GGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTAC CGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGAGACTGTAGA GAGGCCGACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGA GGGGCGCCATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGT ACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTA GAGAGGCCGACTGA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	170	0.0059	-263	c.354 others(17): Show c.3540+535_3540+797del		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26					INFO_REALIGN_3_PRIME	chr9	TogoVar

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