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
DLGAP2_chr8_732628_1713476	1627901	CCGACCTC others(336): Show CCGACCTCACATTCTTTCTGACTTACTGTGGAGCAGGGATTAAGAGCCTG AGCTGACCTCACATTCTCTCTGACTTACTGTGGAGCAGGGATTAAGAGCT TGAGCCGACCTCACATTCTGTCTGACTTACTGTGGAGCAGGGATTAAGAG CTTGAGCCAACCTCACATTCTCTCTGACTTACTGTGGAGCAGGAATTAAG AGCTTGAGCCGACCTCACATTCTGTCTGACTTACTGTGGAGCAGGAATTA AGAGCCTGAGCTGACCTCACATTCTCTCTGACTTACTGTGGAGCAGGAAT TAAGAGCCTGAGCTGACCTCACATTCTTTCTGACTTACTGTGGA	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0006 a0001c0009t0012g0006	1	40	0.0250	-343	c.159 others(19): Show c.1590+1015_1590+1357del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	7/14						chr8	TogoVar
EHMT1_chr9_137614005_137841127	137818778	ACTTAGGG others(336): Show ACTTAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGC CATGTACCGAGACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGA CCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGC CGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGACTTAGGGGC GCCGTGTACCGAGACCGTAGAGAGGCCGATTGAGGGGCGCCGTGTACCGA GACCGTAGAGAGGCCGACTGAGGGGCGCCGTGTACCGAGACCGTAGAGAG GCCGATTGAGGGGCGCCGTGTACCGAGACCGTAGAGAGGCCGAT	A A	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	170	0.0059	-343	c.354 others(17): Show c.3540+641_3540+983del		EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	25/26						chr9	TogoVar
FBXL7_chr5_15495180_15944793	15942543	AAGAGATG others(336): Show AAGAGATGTCAGATACTGTTTTATCACTGGGAGTGCTGTCCTGACAGAAC TTACTAAAGAAATAATGTTCAGCACATTATTGGGAGAGAAGAACAAGGCT TAGGCTCATCTCTTAGAGAAGACCCTTGAGCTGGGTTTTATATACTCAGA CAAGGTGGACTTGGAGGAGTGATGCTCTTTAACATCCAAAACAGAGTACA TGGAGCCCACTCAGGGAAAAAATATTTAATAAGGTTAGTGAAATAATTTA TCTCTACTCTTTAATATTATCAAAACATTAACTATATTAACTATAGGTTA ACATGGTCATTGCTTTAGGTTGGTCATGTGAAAACATGGCAAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02257.hp1 HG02258.hp2 HG00323.hp2 HG02257.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0082 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0002g0082 a0001c0001t0003g0042 a0001c0001t0003g0044	3	122	0.0246	-343	c.53 others(11): Show c.5358_*5700del		FBXL7	ENSG00000183580.10	transcript	ENST00000504595.2	protein_coding					2751		chr5	TogoVar
GAL3ST2_chr2_241771822_241809287	241805323	CCTTCCCT others(336): Show CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18983.hp2 NA18959.hp1 NA18983.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0202 a0003c0003t0001g0236 a0001c0001t0001g0202 a0003c0003t0001g0236	2	314	0.0064	-343	c.11 others(11): Show c.1158_*1500del		GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding					1037		chr2	TogoVar
GRAMD4_chr22_46615386_46684785	46631422	AGCCTGTG others(336): Show AGCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG GCCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGG CCTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGC CTGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCC TGTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCCT GTGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACGGCCTG TGTCCTTTCGTCTCCTGGGGACCGGGGATGGGTAGAACCTCACG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01070.hp2 others(10): Show HG00140.hp1 HG00642.hp2 HG01070.hp2 HG01243.hp1 HG02258.hp2 HG02451.hp2 HG02559.hp1 HG02615.hp1 HG02630.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(2): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0013	a0001c0001t0003g0248 a0001c0001t0004g0021 a0001c0001t0005g0063 others(10): Show a0001c0001t0003g0248 a0001c0001t0004g0021 a0001c0001t0005g0063 a0001c0001t0007g0022 a0001c0001t0007g0023 a0001c0001t0007g0024 a0001c0001t0007g0025 a0001c0001t0007g0026 a0001c0001t0007g0027 a0001c0001t0007g0028 a0001c0001t0007g0029 a0001c0001t0007g0033 a0001c0001t0013g0020	13	328	0.0396	-343	c.162 others(17): Show c.162+4699_162+5041del		GRAMD4	ENSG00000075240.17	transcript	ENST00000406902.6	protein_coding	2/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
HDAC4_chr2_239043168_239406020	239068848	ACACTTGC others(336): Show ACACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTG CACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGC ACTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCA CTTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCAC TTGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACT TGCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTGCACTT GCTTGGTGAGAGGGAGTCACGGTGCAAGCCAGCAAGCCCCACTG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	242	0.0041	-343	c.275 others(17): Show c.2751-584_2751-242del		HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	22/26						chr2	TogoVar
IGF2R_chr6_159964082_160116504	160090901	TCATCGCC others(336): Show TCATCGCCGAGAAGGAGCAGGTGCTCCGTGCCCTGGTGCTGAGCGCATCG CCGAGAAGGAGCGGGTGCTCTGTGCCCTGGTGCTGAGCGCATCGCTGAGA AGGAGCGGGTGCTCTGTGCCCTGGTGCTGAGCGCATCGCTGAGAAGGAGC GGGTGCTCTGTGCCCTGGTGCGGCTGAGAAGGAGCGGGTGCTCCGTGCCC TGGTGCTGAGCACATCGCCGAGAAGGAGCAGGTGCTCCGTGCCCTGGTGC TGAGCACATCGCCGAGAAGGAGCAGGTGCTCCGTGCCCTGGTGCTGAGCG CATCGCCGAGAAGGAGCAGGTGCTCCGTGCCCTGGTGCTGAGCG	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02976.hp1 HG03225.hp1 HG02055.hp2 HG02976.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0071 a0001c0004t0034 a0001c0004t0044 a0001c0002t0071 a0001c0004t0034 a0001c0004t0044	a0001c0002t0071g0194 a0001c0004t0034g0126 a0001c0004t0044g0153 a0001c0002t0071g0194 a0001c0004t0034g0126 a0001c0004t0044g0153	3	310	0.0097	-343	c.665 others(18): Show c.6655+860_6655+1202del		IGF2R	ENSG00000197081.16	transcript	ENST00000356956.6	protein_coding	44/47					INFO_REALIGN_3_PRIME	chr6	TogoVar
MYOM2_chr8_2040046_2150456	2085549	TGTCATGA others(336): Show TGTCATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCAC TGTCGTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCC CCACTGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCC CCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGT GGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCT GCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCT CTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACA	T T	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0006 a0006	a0006c0204 a0006c0204	a0006c0204t0002 a0006c0204t0002	a0006c0204t0002g0160 a0006c0204t0002g0160	1	403	0.0025	-343	c.164 others(17): Show c.1644+163_1644+505del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
MYOM2_chr8_2040046_2150456	2085553	ATGATCTC others(336): Show ATGATCTCTGCGTGGCCCCACTGTTGTGATCTCTGCGTGGCCCCACTGTC GTGATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCCAC TGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTGCGTGGCCCCCC ACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATCTCTGCGTGGCC CCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGTGATCTCTGCGT GGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTCGTGATCTCTTT GTGGCCCCCCACTGTTGTGATCTCTGCGTGGCCCCCCACAGTCG	A A	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18983.hp2 NA18940.hp2 NA18983.hp2	a0021 a0046 a0021 a0046	a0021c0028 a0046c0200 a0021c0028 a0046c0200	a0021c0028t0001 a0046c0200t0001 a0021c0028t0001 a0046c0200t0001	a0021c0028t0001g0164 a0046c0200t0001g0151 a0021c0028t0001g0164 a0046c0200t0001g0151	2	403	0.0050	-343	c.164 others(17): Show c.1644+172_1644+514del		MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36					INFO_REALIGN_3_PRIME	chr8	TogoVar
NEU4_chr2_241804193_241822413	241805323	CCTTCCCT others(336): Show CCTTCCCTCCCCCCTCAGCCCAGGAACCTCCGCAGGCCACCTTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACCTTCCCTCCCCCCTCAGCCCA GGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTC CCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCCCCTCAGCC CAGGAACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCC GCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp2 NA18983.hp2 NA18959.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0003 a0001c0005t0001g0024 a0001c0001t0001g0003 a0001c0005t0001g0024	2	319	0.0063	-343	c.-39 others(11): Show c.-3954_-3612del		NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding					3869		chr2	TogoVar
PCGF3_chr4_700832_775089	744698	GCCCGGGG others(336): Show GCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTGG AGGCGTGAGCAGGTGGGCGGGGCCCCGGGGTCGCTGCAGTGTTAGTGCTC GCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTT AGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02647.hp1 HG02976.hp1 others(1): Show HG02109.hp1 HG02647.hp1 HG02976.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0012 a0001c0001t0004 a0001c0001t0008 a0001c0001t0012	a0001c0001t0004g0117 a0001c0001t0008g0344 a0001c0001t0012g0008 others(1): Show a0001c0001t0004g0117 a0001c0001t0008g0344 a0001c0001t0012g0008 a0001c0001t0012g0016	4	366	0.0109	-343	c.462 others(14): Show c.462+36_462+378del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	747317	GCCCGGGG others(336): Show GCCCGGGGGTCGCTGCAGTGTTAGTGCTCTCCGTGGAGGCGTGAGCAGGT GGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCTCGCCGTGGAGGCGTG AGCAGGTGGGCGGGGCCCCGGGGGTCGCTGCAGTGTTAGTGTTCGCCGTG GAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTGCAGTGTTAGTGCT CGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGTCGCTGCAGTGTT AGTGTTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGCCCGGGGGTCGCTG CAGTGTTAGTGCTCGCCGTGGAGGCGTGAGCAGGTGGGCGGGGC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02572.hp2 others(6): Show HG01891.hp1 HG02055.hp2 HG02572.hp2 HG02622.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03139.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0019 a0001c0001t0004 a0001c0001t0019	a0001c0001t0004g0188 a0001c0001t0004g0256 a0001c0001t0004g0264 others(6): Show a0001c0001t0004g0188 a0001c0001t0004g0256 a0001c0001t0004g0264 a0001c0001t0004g0265 a0001c0001t0004g0287 a0001c0001t0004g0291 a0001c0001t0004g0292 a0001c0001t0019g0357 a0001c0001t0019g0358	9	366	0.0246	-343	c.462 others(17): Show c.462+2637_462+2979del		PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	8/10					INFO_REALIGN_3_PRIME	chr4	TogoVar
PLCXD1_chrX_276381_308356	297274	TCACATGG others(336): Show TCACATGGGGATCAGGACGTGGACATCTTTGGGGACATTATCCTGTCTAT CACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTCCC ACATGGGGATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTCCCA CATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTCCCAC ATGGGGATTAGGACGTGGACATCTTTGGGGCTGTTATTCTGTCTCCCACA TGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACAT GGGGATTAGGACGTGGACATCTTTGGGGCTGTTATTCTGTCTCC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02723.hp1 NA18942.hp1 others(1): Show HG00408.hp2 HG02723.hp1 NA18942.hp1 NA18991.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0010c0008 a0001c0001 a0010c0008	a0001c0001t0001 a0001c0001t0066 a0001c0001t0113 others(1): Show a0001c0001t0001 a0001c0001t0066 a0001c0001t0113 a0010c0008t0077	a0001c0001t0001g0054 a0001c0001t0066g0161 a0001c0001t0113g0166 others(1): Show a0001c0001t0001g0054 a0001c0001t0066g0161 a0001c0001t0113g0166 a0010c0008t0077g0072	4	176	0.0227	-343	c.734 others(17): Show c.734-1811_734-1469del		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6					INFO_REALIGN_3_PRIME	chrX	TogoVar
PLPPR3_chr19_807488_826955	818886	AGGCCTCA others(336): Show AGGCCTCAAGTGATCTTCCTGCCTCAGCCTCCCAAAGCACTGGAATTACA GGTGTGAGCCACTGCGCTCGGCCTTATTATTATTATTTTATTTATTATTA TTATTTTTTGAGATGGAGTCTTGCTCTCTTGCCCAAGCTGGCGTGCAGTG GAACAGTCTCAGCTCACTGCAACCTCCACCTCCCGTCCTCAAGCGATTCT CCCACCTCAGCCTCCGGAGTAGCTGAGACTACAGGCACACACCACCACGC TGGGCTAATTTTTGTATTTTTAGTAGAGGTGTGGTTTCACCACATTGGCC AGACTGGTCTCAAACTCCTGACCTCAGGTGATCTGCCCGTCCCG	A A	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0133 a0001c0001t0001g0133	1	398	0.0025	-343	c.75+ others(15): Show c.75+2256_75+2598del		PLPPR3	ENSG00000129951.19	transcript	ENST00000520876.8	protein_coding	2/7						chr19	TogoVar
RSRC1_chr3_158105089_158550730	158399112	ACTATTAT others(336): Show ACTATTATTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAG TGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTAC GCCCGGCTAATTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTT TAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(164): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp2 HG01261.hp1 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02129.hp2 HG02132.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03831.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18948.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18961.hp1 NA18962.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19011.hp2 NA19054.hp2 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19064.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19086.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0005 others(2): Show a0001c0001 a0002c0002 a0003c0005 a0004c0004 a0005c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0002c0002t0017 a0003c0005t0013 a0004c0004t0005 a0005c0003t0002	a0001c0001t0001g0174 a0001c0001t0001g0224 a0001c0001t0001g0226 others(164): Show a0001c0001t0001g0174 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0244 a0001c0001t0001g0254 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0024 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0054 a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0263 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0003g0042 a0001c0001t0003g0046 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0129 a0001c0001t0003g0132 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0146 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0158 a0001c0001t0003g0164 a0001c0001t0004g0038 a0001c0001t0004g0074 a0001c0001t0004g0156 a0001c0001t0004g0168 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0175 a0001c0001t0004g0193 a0001c0001t0004g0209 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0249 a0001c0001t0004g0256 a0001c0001t0004g0267 a0001c0001t0004g0269 a0001c0001t0005g0045 a0001c0001t0005g0124 a0001c0001t0005g0128 a0001c0001t0005g0131 a0001c0001t0005g0136 a0001c0001t0005g0138 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0006g0021 a0001c0001t0006g0025 a0001c0001t0006g0026 a0001c0001t0006g0029 a0001c0001t0006g0036 a0001c0001t0006g0067 a0001c0001t0006g0212 a0001c0001t0006g0232 a0001c0001t0006g0248 a0001c0001t0006g0250 a0001c0001t0007g0037 a0001c0001t0007g0044 a0001c0001t0007g0126 a0001c0001t0007g0137 a0001c0001t0007g0180 a0001c0001t0007g0181 a0001c0001t0007g0182 a0001c0001t0007g0188 a0001c0001t0007g0194 a0001c0001t0007g0276 a0001c0001t0008g0112 a0001c0001t0008g0116 a0001c0001t0008g0117 a0001c0001t0008g0121 a0001c0001t0008g0130 a0001c0001t0008g0133 a0001c0001t0008g0157 a0001c0001t0009g0006 a0001c0001t0009g0009 a0001c0001t0009g0010 a0001c0001t0009g0011 a0001c0001t0009g0012 a0001c0001t0009g0034 a0001c0001t0011g0089 a0001c0001t0011g0165 a0001c0001t0011g0171 a0001c0001t0011g0172 a0001c0001t0011g0183 a0001c0001t0011g0202 a0001c0001t0011g0203 a0001c0001t0011g0222 a0001c0001t0012g0031 a0001c0001t0013g0001 a0001c0001t0013g0047 a0001c0001t0014g0015 a0001c0001t0014g0016 a0001c0001t0014g0017 a0001c0001t0014g0018 a0001c0001t0016g0225 a0001c0001t0017g0113 a0001c0001t0017g0150 a0001c0001t0018g0139 a0001c0001t0018g0141 a0001c0001t0018g0143 a0001c0001t0018g0145 a0001c0001t0020g0140 a0001c0001t0020g0142 a0001c0001t0020g0144 a0001c0001t0021g0023 a0001c0001t0021g0035 a0001c0001t0022g0008 a0001c0001t0023g0104 a0001c0001t0023g0106 a0001c0001t0026g0107 a0001c0001t0027g0048 a0001c0001t0029g0152 a0001c0001t0030g0155 a0001c0001t0032g0122 a0002c0002t0017g0114 a0002c0002t0017g0115 a0003c0005t0013g0043 a0004c0004t0005g0120 a0005c0003t0002g0033	167	276	0.6051	-343	c.583 others(19): Show c.583+44221_583+44563del		RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	6/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
SKI_chr1_2223319_2315213	2281426	GGATGCCC others(336): Show GGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCC CGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCCGAGAGG ACAGGCGGTGGTGGAGATCTTCATAGAGAGGACGCCCGAGAGGACAGGCG GTGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGG AGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTT CAGAGAGAGGACGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAG AGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGA	G G	intron_variant intron_variant	MODIFIER	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0249 a0001c0001t0019g0249	1	330	0.0030	-343	c.970 others(19): Show c.970-21550_970-21208del		SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC1A1_chr9_4485468_4592469	4537262	TAAAAAAA others(336): Show TAAAAAAATCACATGCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCACAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(129): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp2 HG01109.hp2 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02056.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03516.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03831.hp2 HG03942.hp1 HG04115.hp1 HG06807.hp2 NA18522.hp1 NA18939.hp1 NA18944.hp1 NA18953.hp1 NA18960.hp2 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18982.hp1 NA18982.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp2 NA18998.hp2 NA19003.hp2 NA19005.hp1 NA19006.hp2 NA19009.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19064.hp1 NA19068.hp2 NA19072.hp2 NA19074.hp2 NA19076.hp1 NA19079.hp2 NA19088.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0011 a0001c0012 a0002c0005 a0002c0007 a0002c0009 a0003c0008 a0004c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(28): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0014 a0001c0002t0025 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0003t0007 a0001c0003t0015 a0001c0003t0022 a0001c0004t0001 a0001c0004t0002 a0001c0004t0013 a0001c0006t0001 a0001c0011t0004 a0001c0012t0003 a0002c0005t0002 a0002c0005t0023 a0002c0007t0004 a0002c0009t0004 a0003c0008t0008 a0004c0013t0009	a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0023 others(126): Show a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0096 a0001c0001t0001g0147 a0001c0001t0001g0235 a0001c0001t0001g0257 a0001c0001t0001g0267 a0001c0001t0001g0294 a0001c0001t0001g0330 a0001c0001t0002g0070 a0001c0001t0002g0148 a0001c0001t0002g0168 a0001c0001t0002g0179 a0001c0001t0002g0249 a0001c0001t0002g0353 a0001c0001t0002g0355 a0001c0001t0003g0025 a0001c0001t0003g0029 a0001c0001t0003g0033 a0001c0001t0003g0108 a0001c0001t0003g0124 a0001c0001t0003g0205 a0001c0001t0003g0255 a0001c0001t0003g0276 a0001c0001t0005g0327 a0001c0001t0005g0329 a0001c0001t0005g0342 a0001c0001t0005g0366 a0001c0001t0009g0010 a0001c0002t0001g0001 a0001c0002t0001g0013 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0049 a0001c0002t0001g0053 a0001c0002t0001g0076 a0001c0002t0001g0109 a0001c0002t0001g0119 a0001c0002t0001g0180 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0260 a0001c0002t0001g0269 a0001c0002t0001g0293 a0001c0002t0001g0306 a0001c0002t0001g0358 a0001c0002t0001g0361 a0001c0002t0001g0363 a0001c0002t0001g0365 a0001c0002t0001g0373 a0001c0002t0001g0374 a0001c0002t0001g0375 a0001c0002t0002g0156 a0001c0002t0002g0165 a0001c0002t0002g0209 a0001c0002t0002g0237 a0001c0002t0002g0360 a0001c0002t0003g0234 a0001c0002t0004g0316 a0001c0002t0005g0003 a0001c0002t0005g0298 a0001c0002t0006g0064 a0001c0002t0014g0153 a0001c0002t0025g0202 a0001c0003t0001g0074 a0001c0003t0001g0099 a0001c0003t0001g0107 a0001c0003t0001g0120 a0001c0003t0001g0137 a0001c0003t0001g0191 a0001c0003t0001g0284 a0001c0003t0001g0301 a0001c0003t0002g0186 a0001c0003t0004g0002 a0001c0003t0004g0019 a0001c0003t0004g0027 a0001c0003t0004g0028 a0001c0003t0004g0031 a0001c0003t0004g0072 a0001c0003t0004g0073 a0001c0003t0004g0081 a0001c0003t0004g0113 a0001c0003t0004g0118 a0001c0003t0004g0138 a0001c0003t0004g0139 a0001c0003t0004g0194 a0001c0003t0004g0195 a0001c0003t0004g0203 a0001c0003t0004g0206 a0001c0003t0004g0207 a0001c0003t0004g0243 a0001c0003t0004g0247 a0001c0003t0004g0274 a0001c0003t0004g0279 a0001c0003t0004g0283 a0001c0003t0004g0291 a0001c0003t0004g0296 a0001c0003t0004g0297 a0001c0003t0004g0311 a0001c0003t0004g0381 a0001c0003t0007g0362 a0001c0003t0015g0089 a0001c0003t0022g0285 a0001c0004t0001g0060 a0001c0004t0002g0111 a0001c0004t0002g0112 a0001c0004t0002g0164 a0001c0004t0002g0167 a0001c0004t0002g0173 a0001c0004t0002g0259 a0001c0004t0002g0261 a0001c0004t0013g0162 a0001c0006t0001g0110 a0001c0006t0001g0190 a0001c0006t0001g0238 a0001c0011t0004g0004 a0001c0012t0003g0114 a0002c0005t0002g0018 a0002c0005t0002g0106 a0002c0005t0002g0152 a0002c0005t0023g0009 a0002c0007t0004g0356 a0002c0007t0004g0379 a0002c0009t0004g0116 a0003c0008t0008g0364 a0004c0013t0009g0265	132	384	0.3438	-343	c.92- others(15): Show c.92-7289_92-6947del		SLC1A1	ENSG00000106688.12	transcript	ENST00000262352.8	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr9	TogoVar
SLC66A2_chr18_79897420_79956653	79919894	AGGAACCG others(336): Show AGGAACCGAGTGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAGGGT CAGTGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGA GACAGGAACCGAGTGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCG AGGGAGAGGTCAAGGTCAGTGGGGAGAGACGGAACCGAGGGAGAGGTCAG GGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGGAGG AGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGAC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01361.hp1 HG00323.hp2 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0004 a0001c0001t0006	a0001c0001t0004g0247 a0001c0001t0006g0237 a0001c0001t0004g0247 a0001c0001t0006g0237	2	352	0.0057	-343	c.392 others(15): Show c.392-837_392-495del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920303	GGGGAGAG others(336): Show GGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGG GAACCGAGGGAGAGGTCAAGGTCAGTGGAGGAGAGACAGGAACCGAGGGA GAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTC AGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGA CAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGT GAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGG TCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGT	G G	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18965.hp1 NA18979.hp2 NA18964.hp2 NA18965.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0029 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0029 a0001c0001t0004g0114 a0001c0001t0004g0115	3	352	0.0085	-343	c.392 others(16): Show c.392-1246_392-904del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920782	GGAGAGGT others(336): Show GGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAG GTCAGTGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAG AGACGGGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACC GAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTC AGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGA GGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGA ACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGT	G G	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0176 a0001c0001t0004g0176	1	352	0.0028	-343	c.392 others(17): Show c.392-1725_392-1383del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920837	TGAGGAGA others(336): Show TGAGGAGAGACAGGAACCGAGTGAGAGGTCAAGGTCAGTGAGGAGAGACG GGAACCGAGGGAGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGG AGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGGAGAGGTCAGGGT CAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGCTCAGTGAGGAGA GACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACAGGAACCGA GTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAGTGAGAGGTCAAG GTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGGGTCAGA	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0170 a0001c0001t0010g0170	1	352	0.0028	-343	c.392 others(17): Show c.392-1780_392-1438del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SLC66A2_chr18_79897420_79956653	79920925	AGGAACCG others(336): Show AGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACGGGAACCGAGGG AGAGGTCAGGGTCAGAGGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGC TCAGTGAGGAGAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGA GACAGGAACCGAGTGAGAGGTCAAGCTCAGTGGGGAGAGATGGAACCGAG TGAGAGGTCAAGGTCAGTGGGGAGAGACAGGAACCGAGGGAGAGGTCAGG GTCAGAGGAGGAGAGACGGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGA GAGACAGGAACCGAGGGAGAGGTCAAGGTCAGTGAGGAGAGACG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01109.hp2 HG01433.hp1 others(2): Show HG00099.hp2 HG01109.hp2 HG01433.hp1 HG02735.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0186 a0001c0001t0005g0200 others(2): Show a0001c0001t0005g0009 a0001c0001t0005g0186 a0001c0001t0005g0200 a0001c0001t0005g0201 a0001c0001t0005g0205	5	352	0.0142	-343	c.392 others(17): Show c.392-1868_392-1526del		SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	4/5						chr18	TogoVar
SLURP2_chr8_142759338_142774828	142760182	ACAATCCA others(336): Show ACAATCCACCCGTTTACAGTGGGTAATTCAGTGGTTTTTCACGCACCATA CAATCCACCCATTTACAGTGGGTAACTCAGTGGTTTGTCACGCACCATAC AATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTGTCACGCACCATACA ATCCACCCGTTTACAGTGGGTAACTCAGTGGTTTTTCACGTACCATACAA TCCACCCGTTTACAGTGGGTAACTCAGTGGTTTCTCACGCAGCATACAAT CCACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCAGCATACAATC CACCCGTTTACAGTGGGTAATTCAGTGGTTTCTCACGCACCATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 NA21309.hp2 HG03471.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0109 a0001c0001t0003g0082 a0001c0001t0001g0109 a0001c0001t0003g0082	2	446	0.0045	-343	c.40 others(11): Show c.4080_*4422del		SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding					4155		chr8	TogoVar
SNTG2_chr2_945849_1372613	1342589	TCCCCCTG others(336): Show TCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTAGGACAGCGGCAGCT TCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGACATGCATAGGAAGAG TGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCTGGCCCAGCTCTGTA GGACAGCAGCAGCTTCCTCTCACTGGGACTTTTAATTTGGGAAGCAGGAC ATGCATAGGAAGAGTGGACTCGCACTTTTCCCCCTGTTCTGGGCACGCCT GGCCCAGCTCTGTAGGACAGCGGCAGCTTCCTCTCACTGGGACTTTTAAT TTGGGAAGCAGGACATGCATAGGAAGAGTGGACTCGCACTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00735.hp2 others(15): Show HG00140.hp1 HG00323.hp1 HG00735.hp2 HG01074.hp2 HG01081.hp1 HG01169.hp1 HG01361.hp2 HG01496.hp2 HG02015.hp2 HG02273.hp1 HG02280.hp1 HG03017.hp2 HG03239.hp1 HG03490.hp1 HG03654.hp2 HG03831.hp2 NA20805.hp2 NA20905.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0013	a0001c0001 a0001c0002 a0002c0003 others(4): Show a0001c0001 a0001c0002 a0002c0003 a0002c0005 a0006c0009 a0006c0010 a0013c0020	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0002c0005t0001 a0006c0009t0001 a0006c0010t0001 a0013c0020t0001	a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0056 others(15): Show a0001c0001t0001g0015 a0001c0001t0001g0038 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0090 a0001c0001t0001g0141 a0001c0002t0001g0017 a0001c0002t0001g0186 a0002c0003t0001g0021 a0002c0003t0001g0139 a0002c0003t0001g0165 a0002c0005t0001g0131 a0006c0009t0001g0011 a0006c0010t0001g0009 a0013c0020t0001g0142 a0013c0020t0001g0143	18	190	0.0947	-343	c.148 others(21): Show c.1489-24749_1489-24407del		SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	16/16					INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230460579	TGGTAATC others(336): Show TGGTAATCTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGC AGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCA TTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACC GCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGT TAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC TCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(159): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00544.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG06807.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18967.hp1 NA18967.hp2 NA18970.hp2 NA18973.hp2 NA18977.hp2 NA18978.hp1 NA18981.hp2 NA18984.hp2 NA18989.hp1 NA18994.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp2 NA19083.hp2 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011	a0001c0001 a0001c0003 a0001c0009 others(17): Show a0001c0001 a0001c0003 a0001c0009 a0001c0017 a0001c0019 a0002c0002 a0002c0005 a0002c0020 a0002c0021 a0003c0004 a0004c0006 a0005c0008 a0005c0013 a0006c0014 a0006c0016 a0007c0010 a0008c0018 a0009c0022 a0010c0012 a0011c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(47): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0026 a0001c0001t0027 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0006 a0001c0003t0007 a0001c0003t0008 a0001c0003t0010 a0001c0003t0012 a0001c0003t0017 a0001c0003t0019 a0001c0009t0002 a0001c0009t0007 a0001c0009t0010 a0001c0017t0002 a0001c0019t0016 a0002c0002t0001 a0002c0002t0013 a0002c0005t0001 a0002c0005t0005 a0002c0005t0013 a0002c0020t0023 a0002c0021t0001 a0003c0004t0002 a0003c0004t0003 a0003c0004t0004 a0004c0006t0004 a0005c0008t0002 a0005c0008t0003 a0005c0008t0014 a0005c0013t0025 a0006c0014t0004 a0006c0016t0004 a0007c0010t0001 a0008c0018t0004 a0009c0022t0005 a0010c0012t0009 a0011c0011t0003	a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(159): Show a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0253 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0275 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0003g0028 a0001c0001t0003g0055 a0001c0001t0003g0069 a0001c0001t0003g0072 a0001c0001t0003g0073 a0001c0001t0003g0076 a0001c0001t0003g0084 a0001c0001t0003g0093 a0001c0001t0004g0016 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0095 a0001c0001t0004g0175 a0001c0001t0004g0271 a0001c0001t0006g0094 a0001c0001t0006g0123 a0001c0001t0006g0126 a0001c0001t0007g0078 a0001c0001t0007g0259 a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0008g0052 a0001c0001t0008g0053 a0001c0001t0010g0129 a0001c0001t0010g0261 a0001c0001t0018g0176 a0001c0001t0018g0177 a0001c0001t0019g0064 a0001c0001t0020g0125 a0001c0001t0021g0287 a0001c0001t0026g0059 a0001c0001t0027g0020 a0001c0003t0002g0012 a0001c0003t0002g0099 a0001c0003t0002g0107 a0001c0003t0002g0108 a0001c0003t0002g0276 a0001c0003t0002g0277 a0001c0003t0002g0282 a0001c0003t0003g0021 a0001c0003t0003g0109 a0001c0003t0003g0202 a0001c0003t0003g0274 a0001c0003t0004g0098 a0001c0003t0004g0124 a0001c0003t0004g0248 a0001c0003t0006g0046 a0001c0003t0007g0054 a0001c0003t0007g0110 a0001c0003t0007g0114 a0001c0003t0007g0249 a0001c0003t0007g0250 a0001c0003t0008g0255 a0001c0003t0008g0256 a0001c0003t0010g0019 a0001c0003t0012g0041 a0001c0003t0012g0044 a0001c0003t0012g0045 a0001c0003t0012g0047 a0001c0003t0012g0246 a0001c0003t0012g0258 a0001c0003t0017g0137 a0001c0003t0019g0180 a0001c0009t0002g0081 a0001c0009t0007g0273 a0001c0009t0010g0063 a0001c0017t0002g0017 a0001c0019t0016g0034 a0002c0002t0001g0004 a0002c0002t0001g0027 a0002c0002t0001g0033 a0002c0002t0001g0043 a0002c0002t0001g0077 a0002c0002t0001g0106 a0002c0002t0001g0117 a0002c0002t0001g0143 a0002c0002t0013g0037 a0002c0002t0013g0058 a0002c0005t0001g0009 a0002c0005t0001g0010 a0002c0005t0001g0051 a0002c0005t0001g0056 a0002c0005t0001g0057 a0002c0005t0001g0067 a0002c0005t0001g0068 a0002c0005t0001g0074 a0002c0005t0001g0075 a0002c0005t0001g0079 a0002c0005t0001g0082 a0002c0005t0001g0083 a0002c0005t0001g0128 a0002c0005t0001g0178 a0002c0005t0001g0201 a0002c0005t0001g0257 a0002c0005t0005g0011 a0002c0005t0005g0022 a0002c0005t0005g0023 a0002c0005t0013g0036 a0002c0005t0013g0105 a0002c0005t0013g0127 a0002c0005t0013g0288 a0002c0020t0023g0035 a0002c0021t0001g0100 a0003c0004t0002g0260 a0003c0004t0002g0270 a0003c0004t0003g0060 a0003c0004t0003g0164 a0003c0004t0003g0238 a0003c0004t0003g0262 a0003c0004t0003g0264 a0003c0004t0003g0265 a0003c0004t0003g0266 a0003c0004t0003g0272 a0003c0004t0004g0247 a0004c0006t0004g0181 a0004c0006t0004g0278 a0004c0006t0004g0283 a0005c0008t0002g0121 a0005c0008t0002g0122 a0005c0008t0003g0002 a0005c0008t0014g0003 a0005c0013t0025g0160 a0006c0014t0004g0205 a0006c0016t0004g0281 a0007c0010t0001g0120 a0007c0010t0001g0167 a0008c0018t0004g0042 a0009c0022t0005g0013 a0010c0012t0009g0086 a0011c0011t0003g0085	162	290	0.5586	-343	c.821 others(15): Show c.821-667_821-325del		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	8/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
SPAG17_chr1_117948590_118190228	118051785	AATATATA others(336): Show AATATATAAACTATATAATATATACTATTATAATATATGAACTATTATAA TATATAAACTATATATAATATATAATATGTACTATTATAATATATAAACT ATTATAATATAATATATAAACTATTATAATACATAAACTATTATAATATA TATAATACTATGTATACATATATTACATTATGTACATACTACATTATGTA TTATGTATGTATATATACACAAAATACATAATATATAATAGTATTATATA ATAGTATATATAGTTATAATATATAGTATAATTACAATATATAATATGGT TTATATATTATATATAGTATAATACAATATAACATAATACTATT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG00621.hp2 others(54): Show HG00438.hp2 HG00597.hp1 HG00621.hp2 HG00735.hp2 HG01109.hp1 HG01346.hp1 HG01934.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02109.hp1 HG02135.hp1 HG02155.hp1 HG02523.hp2 HG02602.hp2 HG02698.hp1 HG02735.hp1 HG03139.hp1 HG03490.hp1 HG03492.hp1 HG03654.hp2 HG03688.hp1 HG03942.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18941.hp2 NA18943.hp1 NA18946.hp2 NA18948.hp1 NA18949.hp2 NA18963.hp1 NA18967.hp2 NA18971.hp2 NA18972.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18988.hp1 NA18989.hp1 NA18992.hp1 NA19005.hp2 NA19006.hp1 NA19011.hp1 NA19056.hp2 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19078.hp1 NA19079.hp1 NA19081.hp2 NA19084.hp2 NA19086.hp1	a0001 a0002 a0007 others(2): Show a0001 a0002 a0007 a0015 a0016	a0001c0010 a0002c0002 a0002c0008 others(4): Show a0001c0010 a0002c0002 a0002c0008 a0007c0017 a0007c0033 a0015c0022 a0016c0023	a0001c0010t0001 a0002c0002t0001 a0002c0008t0001 others(4): Show a0001c0010t0001 a0002c0002t0001 a0002c0008t0001 a0007c0017t0001 a0007c0033t0001 a0015c0022t0001 a0016c0023t0001	a0001c0010t0001g0150 a0001c0010t0001g0154 a0001c0010t0001g0156 others(53): Show a0001c0010t0001g0150 a0001c0010t0001g0154 a0001c0010t0001g0156 a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0047 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0069 a0002c0002t0001g0263 a0002c0008t0001g0046 a0002c0008t0001g0048 a0002c0008t0001g0049 a0007c0017t0001g0015 a0007c0017t0001g0016 a0007c0033t0001g0014 a0015c0022t0001g0038 a0016c0023t0001g0068	57	266	0.2143	-343	c.281 others(19): Show c.2814+1874_2814+2216del		SPAG17	ENSG00000155761.14	transcript	ENST00000336338.10	protein_coding	20/48						chr1	TogoVar
SS18_chr18_26011253_26095613	26053317	ATCTCATT others(336): Show ATCTCATTTGTTCCACTAACTAATTCTAGATGAATAGAAAACTTAAACAT TTAAAAAGAAGAAACCATAAAAGAATTTCAAAAAGGAGAATTTTAAAAAT AATAATGGAAGGACCTTCTTAAGTATGCCAGAAAACCCTGAGCCATAAAA CATTGATAAATTAGACTATACAAAATTTAAAAATTTGCACGACATAAAAA ACTCAAAATTAAATAATAAAAAGGTAAATAAGAAAATATTATTTATAAGA TAGATCGCAGACCCAGACCAAATTAATTACTTAACATATGAAGTAAGTAA AAGACCACCACCAGTAAAAGAATGGGCAAAGGACATAATGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02976.hp1 HG03453.hp1 others(2): Show HG02145.hp2 HG02976.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 others(2): Show a0001c0001t0001g0019 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030	5	318	0.0157	-343	c.386 others(15): Show c.386-815_386-473del		SS18	ENSG00000141380.14	transcript	ENST00000415083.7	protein_coding	4/10						chr18	TogoVar
TCF3_chr19_1604292_1657615	1628153	CGGGGTGA others(336): Show CGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAG GGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTC ACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGC TCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGAAAGGGGACAGCAG AGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAG	C C	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0020 a0006c0012t0020	a0006c0012t0020g0262 a0006c0012t0020g0262	1	352	0.0028	-343	c.299 others(16): Show c.299-1070_299-728del		TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18						chr19	TogoVar
TRIM22_chr11_5684790_5715863	5699224	TAAGAGTG others(336): Show TAAGAGTGTTGTATGTTGTGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAATGAACCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp1 HG01109.hp2 others(27): Show HG00639.hp1 HG00735.hp1 HG01109.hp2 HG01346.hp2 HG01884.hp1 HG02280.hp1 HG02559.hp1 HG02572.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG03017.hp2 HG03139.hp1 HG03239.hp2 HG03490.hp1 HG03710.hp1 HG04115.hp2 NA18522.hp2 NA18906.hp1 NA18995.hp1 NA19011.hp2 NA19043.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0010 a0011 a0012 a0019 a0020 a0023	a0001c0001 a0001c0002 a0001c0010 others(19): Show a0001c0001 a0001c0002 a0001c0010 a0001c0024 a0001c0046 a0002c0020 a0002c0029 a0002c0033 a0002c0039 a0003c0003 a0004c0048 a0005c0007 a0010c0031 a0010c0036 a0010c0041 a0011c0019 a0011c0040 a0012c0045 a0012c0050 a0019c0043 a0020c0032 a0023c0027	a0001c0001t0004 a0001c0002t0002 a0001c0002t0004 others(21): Show a0001c0001t0004 a0001c0002t0002 a0001c0002t0004 a0001c0002t0021 a0001c0010t0018 a0001c0024t0004 a0001c0046t0004 a0002c0020t0004 a0002c0029t0004 a0002c0033t0004 a0002c0039t0004 a0003c0003t0002 a0004c0048t0004 a0005c0007t0002 a0010c0031t0005 a0010c0036t0005 a0010c0041t0005 a0011c0019t0005 a0011c0040t0005 a0012c0045t0005 a0012c0050t0005 a0019c0043t0005 a0020c0032t0011 a0023c0027t0020	a0001c0001t0004g0326 a0001c0001t0004g0339 a0001c0002t0002g0043 others(26): Show a0001c0001t0004g0326 a0001c0001t0004g0339 a0001c0002t0002g0043 a0001c0002t0004g0283 a0001c0002t0021g0304 a0001c0010t0018g0325 a0001c0024t0004g0022 a0001c0046t0004g0376 a0002c0020t0004g0230 a0002c0020t0004g0333 a0002c0029t0004g0169 a0002c0033t0004g0311 a0002c0039t0004g0039 a0003c0003t0002g0212 a0004c0048t0004g0127 a0005c0007t0002g0349 a0005c0007t0002g0381 a0005c0007t0002g0382 a0010c0031t0005g0132 a0010c0036t0005g0015 a0010c0041t0005g0008 a0011c0019t0005g0015 a0011c0019t0005g0213 a0011c0040t0005g0008 a0012c0045t0005g0415 a0012c0050t0005g0286 a0019c0043t0005g0037 a0020c0032t0011g0142 a0023c0027t0020g0242	30	480	0.0625	-343	c.750 others(16): Show c.750+698_750+1040del		TRIM22	ENSG00000132274.17	transcript	ENST00000379965.8	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
TTLL8_chr22_50013575_50063298	50028997	CCCCATCA others(336): Show CCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATC ACACCGTCCTGAAGACCCCACACACACTCGTAAAGACCCCATCACACCAT CCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAG ACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCAC ACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCT CGTAAAGACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAG ACCCCATCACACCATCCTGAAGACCCCACACACCCTCGTAAAGA	C C	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA20129.hp2 HG02976.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	224	0.0089	-343	c.225 others(19): Show c.2251+1090_2251+1432del		TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13						chr22	TogoVar
VAV2_chr9_133756894_133997324	133827242	CCACTGAG others(336): Show CCACTGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACC ACTGAGTGGGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCAC TGAGCGGGGGCATCACCACCTACCGCTGCGCCCACTGGGGCTGACCACTG AGCACGGGCATCGCCAGCTACTGCTGTGCCCACTGAGGCTGACCACTGAG TGGGGGCATCACCACCTACCGCTGCGCCCACTGAGGCTGACCACTGAGTG GGGGCATCGCCAGCTACTGCTGTGCCCACTGGGGCTGACCACTGAGCACG GGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAG	C C	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01106.hp1 NA18906.hp1 HG00738.hp2 HG01106.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0007 a0002c0001 a0001c0004 a0001c0007 a0002c0001	a0001c0004t0002 a0001c0007t0003 a0002c0001t0001 a0001c0004t0002 a0001c0007t0003 a0002c0001t0001	a0001c0004t0002g0184 a0001c0007t0003g0082 a0002c0001t0001g0152 a0001c0004t0002g0184 a0001c0007t0003g0082 a0002c0001t0001g0152	3	200	0.0150	-343	c.449 others(17): Show c.449+6687_449+7029del		VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29						chr9	TogoVar
ZNF827_chr4_145752627_145943823	145846476	TCAAACAA others(336): Show TCAAACAAACAAACAAACAAAAAAACACAACAACAACAACAAAAAACAAC CATCACTCAGGCCAGGTGCTGTGGCTCATGCCTGTAATCCCAGCACTTTG GGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCT GGCCAACATGGTGAAAACCCGTCTCTACTAAAAATACAAAAATTAGCAGG GCATGATGGCGCGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGCGAGCCGAGATCGCGC CACTACACTCCAGCCTGAGCAACAGAGCAAGACTCTGTCTCAAA	T T	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	254	0.0039	-343	c.222 others(17): Show c.2222-806_2222-464del		ZNF827	ENSG00000151612.18	transcript	ENST00000508784.6	protein_coding	6/14						chr4	TogoVar
ACAN_chr15_88798436_88880353	88855823	ACTGCCCC others(335): Show ACTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCT AGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCTTCTGGAG AAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGGGCTTCCT TCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACATCAGCGG GCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTAGAGGACA TCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCGCTGCCCCTGGAGTA GAGGACATCAGCGGGCTTCCTTCTGGAGAAGTTCTAGAGACCG	A A	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00408.hp2 HG01243.hp1 HG02055.hp2 others(11): Show HG00408.hp2 HG01243.hp1 HG02055.hp2 HG02258.hp2 HG02965.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03688.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp1 NA20129.hp2	a0032 a0033 a0041 others(6): Show a0032 a0033 a0041 a0060 a0066 a0067 a0073 a0132 a0137	a0032c0182 a0032c0184 a0032c0191 others(10): Show a0032c0182 a0032c0184 a0032c0191 a0033c0060 a0033c0061 a0033c0063 a0041c0034 a0060c0078 a0066c0084 a0067c0083 a0073c0113 a0132c0183 a0137c0062	a0032c0182t0001 a0032c0184t0001 a0032c0191t0001 others(11): Show a0032c0182t0001 a0032c0184t0001 a0032c0191t0001 a0033c0060t0001 a0033c0061t0001 a0033c0063t0001 a0041c0034t0001 a0041c0034t0002 a0060c0078t0001 a0066c0084t0001 a0067c0083t0001 a0073c0113t0004 a0132c0183t0001 a0137c0062t0003	a0032c0182t0001g0148 a0032c0184t0001g0358 a0032c0191t0001g0243 others(11): Show a0032c0182t0001g0148 a0032c0184t0001g0358 a0032c0191t0001g0243 a0033c0060t0001g0209 a0033c0061t0001g0292 a0033c0063t0001g0210 a0041c0034t0001g0229 a0041c0034t0002g0309 a0060c0078t0001g0085 a0066c0084t0001g0155 a0067c0083t0001g0295 a0073c0113t0004g0011 a0132c0183t0001g0328 a0137c0062t0003g0213	14	368	0.0380	-342	c.335 others(9): Show c.3351_3692del	p.Ala others(15): Show p.Ala1118_Thr1231del	ACAN	ENSG00000157766.19	transcript	ENST00000560601.4	protein_coding	12/19	3732/8960	3351/7707	1117/2568		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKRD11_chr16_89262630_89495561	89400335	ACGGTCAT others(335): Show ACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGC TGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTT CCCTGCGCTGGGGGACGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGG GGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATCT GCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGC TTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTG GGGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGC	A A	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02723.hp1 HG02809.hp2 others(6): Show HG02615.hp1 HG02723.hp1 HG02809.hp2 HG02896.hp2 HG02970.hp2 HG03130.hp1 HG03486.hp2 HG06807.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0006 a0001c0022 a0002c0002 others(3): Show a0001c0006 a0001c0022 a0002c0002 a0003c0003 a0010c0029 a0010c0037	a0001c0006t0003 a0001c0022t0001 a0002c0002t0001 others(4): Show a0001c0006t0003 a0001c0022t0001 a0002c0002t0001 a0002c0002t0002 a0003c0003t0001 a0010c0029t0001 a0010c0037t0001	a0001c0006t0003g0126 a0001c0006t0003g0163 a0001c0006t0003g0175 others(6): Show a0001c0006t0003g0126 a0001c0006t0003g0163 a0001c0006t0003g0175 a0001c0022t0001g0263 a0002c0002t0001g0219 a0002c0002t0002g0220 a0003c0003t0001g0146 a0010c0029t0001g0136 a0010c0037t0001g0141	9	310	0.0290	-342	c.-60 others(19): Show c.-60+17607_-60+17948del		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12						chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89400412	CGGTCATC others(335): Show CGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGACGGTCATCTGCT GCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTC CCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGG GCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGCCGGTCATCTG CTGCCCCAGGCTTCCCTGCGCTGGGGGATGGTCATCTGCTGCCCCAGGCT TCCCTGCGCTGGGGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGG GGGCCGGTCATCTGCTGCCCCAGGCTTCCCTGCGCTGGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA21309.hp1 HG02258.hp1 NA21309.hp1	a0012 a0031 a0012 a0031	a0012c0057 a0031c0052 a0012c0057 a0031c0052	a0012c0057t0001 a0031c0052t0003 a0012c0057t0001 a0031c0052t0003	a0012c0057t0001g0122 a0031c0052t0003g0120 a0012c0057t0001g0122 a0031c0052t0003g0120	2	310	0.0065	-342	c.-60 others(19): Show c.-60+17530_-60+17871del		ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12						chr16	TogoVar
C19orf12_chr19_29693937_29720261	29719433	TATATATA others(335): Show TATATATATTTATATATATAATATACATATTTATATATATATTATATATA TTTATATATATATTATATTTATATATATTTATATATATTATATATATATT ATATATATAATATATAAATATATTTATATAATATAAATATATATATTTAT ATAATATAAATATATATATTTATATATATATAAAATATATATAATATATA AGTTTGGACAAAGATATAGAATTATATAATATATAAGTTTGGACAAAGAT ATAGAATTATATAATATATAATATAATATATCAGTATATATAATTGTACT ATTATATAATTATATATAATTATATATATTTATATATATTAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0059 a0001c0002t0001g0059	1	418	0.0024	-342	c.-46 others(11): Show c.-4661_-4320del		C19orf12	ENSG00000131943.20	transcript	ENST00000323670.14	protein_coding					4173		chr19	TogoVar
CBFA2T3_chr16_88869858_88982207	88954379	CACCCAAG others(335): Show CACCCAAGACTCCTGACCCTACCCAAGACTCCTGACCCCACCCAAGGCTC CTGACCCCATCCAAGGCTCCTGACCCCAGCCAAGTGTCCTGACCCCAGCC AAGGCTCCTGACCCCGCCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGAC TCCACCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGC TCCTGACCCCGCCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACTCCAC CCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCTACCCAAGGCTCCTG ACCCCGCCCAAGGCTCCTGACCTCAGCCAAGGCTCCTGACCCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0007 a0001c0009t0007	a0001c0009t0007g0100 a0001c0009t0007g0100	1	284	0.0035	-342	c.151 others(19): Show c.151+21936_151+22277del		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	1/11						chr16	TogoVar
CHFR_chr12_132827356_132892605	132828474	AAGGGCCA others(335): Show AAGGGCCAGGCTAAAGCAAGCACTGCCCGAGTGGTGGCAGTGGACAGCTT CGGGACAGGCCGCGCTCGTCGGGCGCAGACAAGCATTCAGGAGGGCTCGC GGGCACCGGCATTTACAGAGCCAGCTCCGCCGCAGCTGAAGGCGGGCGCC CAGGCCCGAGGCCACCGCAGCGAGGCGGGGGTGACTGGAACGGGGCCGTC CCGCCACGCTGCAGGGACGCGCCCAGGCCCCGCCGCCGCCCCTCGAGCCT CCCCCGCCCATGCACTGCGGGAGCGGGAGCGGGAGCGGGAGCCCGAGCCC CGAGGCGCCGCGGCCTCCGAGCCCCTCACCCTGCTGCTCTGGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0036 a0001c0001t0009g0036	1	378	0.0027	-342	c.12 others(13): Show c.12738_*13079del		CHFR	ENSG00000072609.18	transcript	ENST00000450056.7	protein_coding					3881		chr12	TogoVar
CNTLN_chr9_17130040_17508923	17144798	TTGGAGAA others(335): Show TTGGAGAATTTATTTATTTATTTTATTTTATTTTTTTTATTTTATTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCAGACTGCGGACTGCA GTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCAT TCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCG CGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTT AGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCT CCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0001 a0001c0055t0001	a0001c0055t0001g0021 a0001c0055t0001g0021	1	218	0.0046	-342	c.449 others(17): Show c.449+1436_449+1777del		CNTLN	ENSG00000044459.15	transcript	ENST00000380647.8	protein_coding	2/25					INFO_REALIGN_3_PRIME	chr9	TogoVar
CSF2RA_chrX_1263814_1314935	1314560	CCAATCCC others(335): Show CCAATCCCACTGCACCTGCCCAACCCCACTGCACCTGCCCAACCCCACTG CACCTGCCCAACCACACTGAACCTGCTCAACCCCACTTCACCTGCCCAAC TGCACTGCACTTGCCCAACCCCTCTGTGCCTGCCCAACCCCACTGTGCCT GCCCAATCGCACTGCACCTGCCCAATCCCACTGCACCTGCCCAATCCCAC TGCACCTGCCCAATCCCACTGCACCTGCCCAATCCCACTGCACCTGCCCA ACCCCACTGTGCCTGCCCAACCGCACTGCACCTGCCCAATCCCACTGCAC CTGCCCAACCGCACTGCACCTGCCCAACCACACTGAACCTGCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0098 a0001c0002t0004g0098	1	159	0.0063	-342	c.50 others(11): Show c.5082_*5423del		CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding					4626		chrX	TogoVar
CSMD1_chr8_2930361_4999914	3795681	TCATGTAT others(335): Show TCATGTATAGATATAGATATATATCTATCAAGTACAGCTATAGATATCTA TCATGTACAGCTATAGATACCTATCATGTACAGCTATAGATACCTATCAT GTACAGATATAGATATATACCTATCATGTACAGATATAGATATATATCTA TCATGTACAGATATAGATATATATCTATCATGTACAGATATAGATATATA TCTATCATGTACAGATATATATATCATGTACAGATATAGATATCTATCAT GTACAGATATAGATATCTATCATGTACAGATATAGATATCTATCATGTAC AGATATAGATATATATCTATCATGTATATAGATATATATCATG	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03516.hp2 HG03669.hp1 others(3): Show HG01243.hp1 HG03516.hp2 HG03669.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0017 a0022	a0001c0006 a0004c0087 a0005c0064 others(2): Show a0001c0006 a0004c0087 a0005c0064 a0017c0106 a0022c0013	a0001c0006t0002 a0001c0006t0060 a0004c0087t0001 others(3): Show a0001c0006t0002 a0001c0006t0060 a0004c0087t0001 a0005c0064t0051 a0017c0106t0012 a0022c0013t0007	a0001c0006t0002g0109 a0001c0006t0060g0103 a0004c0087t0001g0022 others(3): Show a0001c0006t0002g0109 a0001c0006t0060g0103 a0004c0087t0001g0022 a0005c0064t0051g0078 a0017c0106t0012g0042 a0022c0013t0007g0112	6	126	0.0476	-342	c.819 others(19): Show c.819-41981_819-41640del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	3795682	CATGTATA others(335): Show CATGTATAGATATAGATATATATCTATCAAGTACAGCTATAGATATCTAT CATGTACAGCTATAGATACCTATCATGTACAGCTATAGATACCTATCATG TACAGATATAGATATATACCTATCATGTACAGATATAGATATATATCTAT CATGTACAGATATAGATATATATCTATCATGTACAGATATAGATATATAT CTATCATGTACAGATATATATATCATGTACAGATATAGATATCTATCATG TACAGATATAGATATCTATCATGTACAGATATAGATATCTATCATGTACA GATATAGATATATATCTATCATGTATATAGATATATATCATGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01071.hp1 HG01074.hp1 others(12): Show HG00099.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01261.hp2 HG02055.hp2 HG02129.hp1 HG02622.hp2 HG02723.hp2 HG02922.hp2 HG03017.hp2 HG03209.hp2 HG03669.hp2 HG06807.hp1	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0010 a0016 a0019 a0028 a0031 a0032 a0036	a0001c0001 a0001c0103 a0002c0035 others(12): Show a0001c0001 a0001c0103 a0002c0035 a0002c0041 a0002c0060 a0003c0057 a0004c0056 a0005c0065 a0010c0112 a0016c0063 a0019c0018 a0028c0097 a0031c0069 a0032c0011 a0036c0100	a0001c0001t0039 a0001c0103t0033 a0002c0035t0047 others(12): Show a0001c0001t0039 a0001c0103t0033 a0002c0035t0047 a0002c0041t0027 a0002c0060t0006 a0003c0057t0080 a0004c0056t0062 a0005c0065t0023 a0010c0112t0081 a0016c0063t0010 a0019c0018t0058 a0028c0097t0018 a0031c0069t0043 a0032c0011t0065 a0036c0100t0017	a0001c0001t0039g0017 a0001c0103t0033g0028 a0002c0035t0047g0076 others(12): Show a0001c0001t0039g0017 a0001c0103t0033g0028 a0002c0035t0047g0076 a0002c0041t0027g0018 a0002c0060t0006g0094 a0003c0057t0080g0075 a0004c0056t0062g0072 a0005c0065t0023g0050 a0010c0112t0081g0090 a0016c0063t0010g0045 a0019c0018t0058g0068 a0028c0097t0018g0089 a0031c0069t0043g0100 a0032c0011t0065g0101 a0036c0100t0017g0121	15	126	0.1191	-342	c.819 others(19): Show c.819-41982_819-41641del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4110322	GTGAATTT others(335): Show GTGAATTTTTGGCCTCTAACTTCAGCCTATGGATATGTATGTTTTTAATC TAAGGGAAAAGTCAGCCAGCAGAAAGAGTCAAAAATATAGTACTCTGGAA ATCTACATTTTCATTACTTTTCCTTTAAGCCAGATCCCTCTCATAAATAC TCCAAGAAATGTTAACTTTTCATATATTATTTTCCCCTAGCGTGTGCAAG TTAAGGATTTTCATTTGTATTTAATTTTTAAACAATTTTCTGACTAGTTT AATTTTTAAACAGATTTCTGAAAACCATTTTGTACTTTCTCCCTAATATA TACCTGATATATACAGGTGTGTGTGTGCATGTGTGTGTTTCTA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0037 a0037	a0037c0101 a0037c0101	a0037c0101t0008 a0037c0101t0008	a0037c0101t0008g0023 a0037c0101t0008g0023	1	126	0.0079	-342	c.416 others(19): Show c.416-78565_416-78224del		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	3/69						chr8	TogoVar
DHX57_chr2_38792729_38880934	38844335	TAAAGAAA others(335): Show TAAAGAAATGATTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC GCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(232): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02055.hp2 HG02080.hp1 HG02080.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19006.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19079.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0013 a0014	a0001c0001 a0001c0003 a0001c0004 others(21): Show a0001c0001 a0001c0003 a0001c0004 a0001c0011 a0001c0015 a0001c0017 a0001c0019 a0001c0021 a0002c0002 a0002c0008 a0002c0009 a0002c0010 a0002c0022 a0003c0005 a0004c0006 a0005c0007 a0006c0014 a0007c0013 a0008c0012 a0009c0016 a0010c0025 a0011c0018 a0013c0023 a0014c0026	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(30): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0003t0001 a0001c0004t0003 a0001c0011t0002 a0001c0015t0005 a0001c0017t0002 a0001c0019t0002 a0001c0021t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0008 a0002c0008t0002 a0002c0009t0002 a0002c0009t0003 a0002c0010t0001 a0002c0022t0001 a0003c0005t0002 a0004c0006t0003 a0005c0007t0002 a0006c0014t0004 a0007c0013t0003 a0008c0012t0002 a0009c0016t0001 a0010c0025t0001 a0011c0018t0001 a0013c0023t0001 a0014c0026t0002	a0001c0001t0002g0003 a0001c0001t0002g0040 a0001c0001t0002g0041 others(230): Show a0001c0001t0002g0003 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0045 a0001c0001t0002g0122 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0196 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0204 a0001c0001t0003g0251 a0001c0001t0005g0121 a0001c0001t0005g0208 a0001c0001t0007g0273 a0001c0001t0007g0274 a0001c0001t0009g0275 a0001c0003t0001g0219 a0001c0003t0001g0223 a0001c0004t0003g0002 a0001c0004t0003g0190 a0001c0004t0003g0191 a0001c0004t0003g0192 a0001c0011t0002g0220 a0001c0015t0005g0154 a0001c0017t0002g0207 a0001c0019t0002g0258 a0001c0021t0001g0218 a0002c0002t0001g0004 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0117 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0120 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0128 a0002c0002t0001g0129 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0167 a0002c0002t0001g0261 a0002c0002t0003g0014 a0002c0002t0003g0031 a0002c0002t0004g0276 a0002c0002t0004g0277 a0002c0002t0004g0278 a0002c0002t0004g0279 a0002c0002t0006g0081 a0002c0002t0006g0084 a0002c0002t0008g0272 a0002c0008t0002g0094 a0002c0008t0002g0136 a0002c0008t0002g0137 a0002c0009t0002g0093 a0002c0009t0003g0047 a0002c0009t0003g0052 a0002c0010t0001g0026 a0002c0010t0001g0115 a0002c0010t0001g0116 a0002c0022t0001g0078 a0003c0005t0002g0186 a0003c0005t0002g0187 a0003c0005t0002g0188 a0003c0005t0002g0189 a0004c0006t0003g0268 a0004c0006t0003g0269 a0004c0006t0003g0270 a0005c0007t0002g0197 a0005c0007t0002g0198 a0005c0007t0002g0199 a0006c0014t0004g0280 a0006c0014t0004g0281 a0007c0013t0003g0193 a0007c0013t0003g0194 a0008c0012t0002g0043 a0008c0012t0002g0044 a0009c0016t0001g0123 a0010c0025t0001g0271 a0011c0018t0001g0009 a0013c0023t0001g0109 a0014c0026t0002g0214	235	284	0.8275	-342	c.222 others(19): Show c.2220-1467_2220-1126del		DHX57	ENSG00000163214.21	transcript	ENST00000457308.6	protein_coding	11/23						chr2	TogoVar
DLGAP2_chr8_732628_1713476	1406184	ACTTACTG others(335): Show ACTTACTGAGCGCCACCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGAACTTACTG AGCGCTCCCTCCTTGTCCTCCAGAGTCGTGTATTGAGTGCTACTGAGCGC ACCACAGTGCTTACTGAGCGCCACCTCCTCGTCCTCCTGAGTCGTGTATT GAGTGCTTACTGAGCGCCACCTCCTTGTCCTCCTGAGTCGTGTATTGAGT GCTTACTGAGCGCTCCCTCCTCGTCCTCCAGAGTCGTGTATTGAGTGCTT ACTGAGCGCCACCTCCTCGTCCTCCAAAGTCGTGTATTGAGTG	A A	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0015 a0001c0011t0015	a0001c0011t0015g0002 a0001c0011t0015g0002	1	40	0.0250	-342	c.107 others(19): Show c.107-95169_107-94828del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1642344	CGCCGGTC others(335): Show CGCCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGT CACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCCCCGGT CCTCACCTGTGTCACCCTCGACCCCCCCGGTCCTCACCTGTGTCACCCTC GAACCCGCCAGCCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACC TGTGTCACCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCC CCGGTCCTCACCTGTGTCACCCTCGACCCCGCCGGCCCTCACCTGTGTCA CCCTCGACCCCGCCGGTCCTCACCTGTGTCACCCTCGACCCCG	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp2 HG03486.hp1 HG02647.hp1 HG02647.hp2 HG03486.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0001 a0001c0003 a0002c0001	a0001c0003t0017 a0002c0001t0002 a0002c0001t0005 a0001c0003t0017 a0002c0001t0002 a0002c0001t0005	a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0001t0005g0035 a0001c0003t0017g0004 a0002c0001t0002g0013 a0002c0001t0005g0035	3	40	0.0750	-342	c.181 others(19): Show c.1810+9299_1810+9640del		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	8/14						chr8	TogoVar
ERICH1_chr8_659200_736224	696272	CGCTCGCT others(335): Show CGCTCGCTCCTCTCACCCTTCACTCCTCTCCTTCCTCCCCATCAGCCTGC GCTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCCCATCAGCCTGCG CTCGCTCCTCACCCTCCACTCTTCTCCTTCTCCACTCCTCTCCTTCCTCC CCATCAGCCTGCACTCGCTCCTCTCACCCTCCACTCCTCTCCTTCCTCCC CATCAGCCTGCGCTCGCTCCTCTCACCCTCTCTCCCTCTCCTTCCTCCCC ATCAGCCTGTGCGCGCTCCTCACACCCTCCCTCTCCTTCCTCCCCATCAG CCTGTACTCGCTCCTCTTACCCTCCACTCCTTCCTCCCCATCA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02735.hp2 HG02723.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0340 a0001c0002t0002g0341 a0001c0002t0002g0340 a0001c0002t0002g0341	2	378	0.0053	-342	c.170 others(17): Show c.170-4002_170-3661del		ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5						chr8	TogoVar
FANCA_chr16_89732549_89821647	89745389	GAAACAGT others(335): Show GAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAG GGACCACACTCCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTCC TCTGAGCTGGGAACGAAACAGTGAAGGGACCACACTGCCCTGAGCTGGGA ACGAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACAAAACAGTGA AGGGACCACACTGCCCTGAGCTGGGAACGAAACAGTGAAGGGACCACACT CCTCTGAGCTGGGAACAAAACAGTGAAGGGACCACACTGCCCTGAGCTGG GAACAAAACAGTGAAGGGACCACACTCCTCTGAGCTGGGAACA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01192.hp1 others(30): Show HG01109.hp1 HG01167.hp1 HG01192.hp1 HG01891.hp1 HG02145.hp2 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03516.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG04115.hp1 HG04204.hp2 NA18522.hp2 NA18939.hp1 NA18951.hp2 NA18979.hp2 NA19001.hp2 NA19057.hp2 NA20905.hp2	a0001 a0002 a0006 others(5): Show a0001 a0002 a0006 a0012 a0019 a0028 a0040 a0041	a0001c0029 a0002c0006 a0006c0007 others(6): Show a0001c0029 a0002c0006 a0006c0007 a0006c0056 a0012c0013 a0019c0016 a0028c0043 a0040c0050 a0041c0049	a0001c0029t0005 a0002c0006t0005 a0002c0006t0008 others(9): Show a0001c0029t0005 a0002c0006t0005 a0002c0006t0008 a0002c0006t0011 a0006c0007t0004 a0006c0007t0009 a0006c0056t0004 a0012c0013t0007 a0019c0016t0007 a0028c0043t0015 a0040c0050t0013 a0041c0049t0004	a0001c0029t0005g0103 a0002c0006t0005g0025 a0002c0006t0005g0217 others(30): Show a0001c0029t0005g0103 a0002c0006t0005g0025 a0002c0006t0005g0217 a0002c0006t0005g0218 a0002c0006t0005g0219 a0002c0006t0005g0223 a0002c0006t0005g0229 a0002c0006t0008g0215 a0002c0006t0008g0220 a0002c0006t0008g0224 a0002c0006t0008g0225 a0002c0006t0008g0226 a0002c0006t0011g0227 a0002c0006t0011g0228 a0006c0007t0004g0310 a0006c0007t0004g0311 a0006c0007t0004g0313 a0006c0007t0004g0315 a0006c0007t0004g0316 a0006c0007t0004g0317 a0006c0007t0004g0318 a0006c0007t0004g0319 a0006c0007t0009g0308 a0006c0007t0009g0314 a0006c0056t0004g0320 a0012c0013t0007g0079 a0012c0013t0007g0081 a0012c0013t0007g0095 a0019c0016t0007g0276 a0019c0016t0007g0291 a0028c0043t0015g0307 a0040c0050t0013g0206 a0041c0049t0004g0207	33	334	0.0988	-342	c.351 others(17): Show c.3514-660_3514-319del		FANCA	ENSG00000187741.16	transcript	ENST00000389301.8	protein_coding	35/42						chr16	TogoVar
FOXN3_chr14_89151177_89422233	89360873	ACCTCCAC others(335): Show ACCTCCACCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAG CACCACCTCCACCACCACCACCTCCACCACCACCACCTCCAGCACCACCT CCACCACTACCACCTCCAGCACCACCTCCACCACCACCTCCACCACCACC TCCACCACCACCTCCACCACCACCACCTCCAGCACTACCTCCAGCACCAC CTCCACCACCACCACCTCCAGCACCACCACCACCACCACCTCCACCACTA CCACCTCCAGCACCACCTCCACCACCACCACCTCCAGCACTACCTCCAGC ACCACCTCCACCACCACCACCTCCAGCACCACCACCACCACCT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0213 a0001c0001t0005g0213	1	230	0.0044	-342	c.544 others(19): Show c.544-10407_544-10066del		FOXN3	ENSG00000053254.16	transcript	ENST00000557258.6	protein_coding	2/5						chr14	TogoVar
GOLGA3_chr12_132763914_132833869	132828474	AAGGGCCA others(335): Show AAGGGCCAGGCTAAAGCAAGCACTGCCCGAGTGGTGGCAGTGGACAGCTT CGGGACAGGCCGCGCTCGTCGGGCGCAGACAAGCATTCAGGAGGGCTCGC GGGCACCGGCATTTACAGAGCCAGCTCCGCCGCAGCTGAAGGCGGGCGCC CAGGCCCGAGGCCACCGCAGCGAGGCGGGGGTGACTGGAACGGGGCCGTC CCGCCACGCTGCAGGGACGCGCCCAGGCCCCGCCGCCGCCCCTCGAGCCT CCCCCGCCCATGCACTGCGGGAGCGGGAGCGGGAGCGGGAGCCCGAGCCC CGAGGCGCCGCGGCCTCCGAGCCCCTCACCCTGCTGCTCTGGC	A A	splice_donor_variant others(3): Show splice_donor_variant splice_region_variant 5_prime_UTR_variant intron_variant	HIGH	HG02486.hp2 HG02486.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0081 a0005c0006t0081	a0005c0006t0081g0308 a0005c0006t0081g0308	1	308	0.0033	-342	c.-19 others(13): Show c.-197_-184+328del		GOLGA3	ENSG00000090615.16	transcript	ENST00000450791.8	protein_coding	1/24				6347		chr12	TogoVar

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Search Results (Total: 10000 hits)