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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PGM3_chr6_83159873_83198265	83191861	GGCGCCTG others(268): Show GGCGCCTGTAATCCCAGCTACTCGGGAGGCAGAGGTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGTGACAAAGGGAGACTCGGTCTCAA AAAAAAAAAAAAAAAAAAAAAACAGGCCAGGTGAGGTGGCTCAGGCCTGT AATCCCGGCATTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAAT TCAAGACCAGCCTGACCAACATGGTGAGACCCTTGTCTCTACTAAAAATA CAAAAAGTAGCCTGGCGTGGTGGTGC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0155 a0002c0002t0003g0155	1	344	0.0029	-275	c.-3+ others(14): Show c.-3+1043_-2-848del	PGM3	ENSG00000013375.17	transcript	ENST00000513973.6	protein_coding	1/12			chr6	TogoVar
PIK3C2B_chr1_204417633_204499805	204471058	CATGGCTT others(268): Show CATGGCTTCACTGGTATTCTCACATGATGGCTTCATTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATGATGGCTTCACTGGTATTCTCACAT GATGGCTTCACTGGTATTCTCACATG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0242 a0001c0004t0004g0242	1	302	0.0033	-275	c.-84 others(17): Show c.-84-1447_-84-1173del	PIK3C2B	ENSG00000133056.14	transcript	ENST00000684373.1	protein_coding	1/32			chr1	TogoVar
PIP4P2_chr8_90988802_91045859	91028746	TGTTAAGA others(268): Show TGTTAAGATGCAAGGATGGTGATACCCATCACATCTTCATTCCACTTGCT TATTATCTAAATTTGACGGCTGCTTCATAACTGAAGTGATGTGATAAGGC CGCTGTATGAGCTCTAGTGCCAGAGAAAGTCAAGAGTCTTTAGAATCAAT ATTTATTTTTTTAGGTAGGTGTTGAGAGAATATCCAGTGAATAAATCCCT TAAATTCTACTGTTTATCTGTAGCCCATGGATTAATCGAATTTTATTTTA AAATACAGAAATTATGGCTGGGCACA	T T	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	342	0.0029	-275	c.107 others(17): Show c.107-7617_107-7343del	PIP4P2	ENSG00000155099.8	transcript	ENST00000285419.8	protein_coding	1/6			chr8	TogoVar
PSEN1_chr14_73131507_73228691	73183921	GGGGGGCT others(268): Show GGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA GAGGGGCTCCTCACTTCCCAGTAGGAGCGGCCGGGCAGAGGCGCCCCTCA CCTCCCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCC CTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCACCTC CCTCCCGGACAGGGCGGCTGGCCGGCCGGGGGGCTGACCCCCCCACCTCC CTCCCGGACGGGGCGGCTGGCCGGGC	G G	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0271 a0001c0001t0006g0271	1	378	0.0027	-275	c.481 others(17): Show c.481-2926_481-2652del	PSEN1	ENSG00000080815.20	transcript	ENST00000324501.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
PTPRR_chr12_70633079_70925738	70727970	GCAGAGCT others(268): Show GCAGAGCTCAGCTCATTGAGGCATCAGAGAAGGGCCCAGGCCCCACTAGC CTACCTCTTCCCTAAGGCCCCATAGAGCATAATTGAAAAGTACTGATTTA TCAAAATGTGAAATAATCCATAGCTAGCCATGAATCCAGCTACAGTTCTA TTGTTGAATAACCCAATACAGGTTGAGTATCCCTGTATCCCTTATCCGAA ATGCTTGGGACCAGAAGTGTTTCAGATTTTGGATTTTTTTTTTTTCAGAT TTTGGAATATTTGCCATACATATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0196 a0003c0003t0001g0196	1	204	0.0049	-275	c.100 others(21): Show c.1007+17573_1007+17847del	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	6/13			chr12	TogoVar
PXDN_chr2_1626887_1749515	1719988	CAGAGAGA others(268): Show CAGAGAGAGAGGGAGGGGAGGGATGTAGAGAGAGAGAGAGAGAGAGGGAG GGATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGG AGGGATGCAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGGGAGGGAA GAATGCAGAGAGAGAGAGAGGGAGGGAGGGATGCAGAGAGAGAGAGATGC ACAGAGAGAGGGAGGGATGCAGAGAGAGGGAGGGATGCAGAGAGAGAGAG AGGGAGGGAGGGATGCAGAGAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0318 a0001c0001t0010g0318	1	322	0.0031	-275	c.200 others(19): Show c.200+23993_200+24267del	PXDN	ENSG00000130508.11	transcript	ENST00000252804.9	protein_coding	1/22			chr2	TogoVar
REM1_chr20_31470288_31489895	31470525	TTCCCGGA others(268): Show TTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCACCTCCATCC CGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCCCCACCTCCC TCCCGGACAGGGCGGCTGGCCGGGCGGGGGGCTGAACCCCCCACCTCCCT CCCGGACAGGGCGGCTGGCTGGGCGGGGGGCTGACTCCCCCACCTCCCTC CCGGACGGGGTGGCTGGCCAGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCTGGGCAGAGGCGCCCCTCACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	344	0.0029	-275	c.-50 others(11): Show c.-5060_-4786del	REM1	ENSG00000088320.4	transcript	ENST00000201979.3	protein_coding		4762		chr20	TogoVar
ROBO2_chr3_77035099_77654964	77164666	GGGTCAGC others(268): Show GGGTCAGCCCCCCGCCTGGCCAGCCGTGCTGTCCGGGAGGGAGGTGGGGG TGTCAGCCCTCCGCCCGGCCAGCCACCCCGTCCGGGAGGGAAGTGGGGGG GTCAGACCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCTGCCCCTACTGGGAAGTGAGGAGCCCCTCAGCCCGGCCAGC CACCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGC	G G	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA19006.hp1 NA18973.hp2 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0002t0047 a0001c0001t0006 a0001c0002t0047	a0001c0001t0006g0025 a0001c0002t0047g0026 a0001c0001t0006g0025 a0001c0002t0047g0026	2	160	0.0125	-275	c.388 others(19): Show c.388+66339_388+66613del	ROBO2	ENSG00000185008.19	transcript	ENST00000696593.1	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
RWDD2A_chr6_83188357_83203935	83191861	GGCGCCTG others(268): Show GGCGCCTGTAATCCCAGCTACTCGGGAGGCAGAGGTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGTGACAAAGGGAGACTCGGTCTCAA AAAAAAAAAAAAAAAAAAAAAACAGGCCAGGTGAGGTGGCTCAGGCCTGT AATCCCGGCATTTTGGGAGGCCAAGGCGGGCGGATCACGAGGTCAGGAAT TCAAGACCAGCCTGACCAACATGGTGAGACCCTTGTCTCTACTAAAAATA CAAAAAGTAGCCTGGCGTGGTGGTGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	432	0.0023	-275	c.-17 others(11): Show c.-1722_-1448del	RWDD2A	ENSG00000013392.8	transcript	ENST00000369724.5	protein_coding		1495		chr6	TogoVar
SEH1L_chr18_12943011_12992531	12980424	CCCCCCAA others(268): Show CCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAT CCCCCAACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCC CCCCACCTCCCTCCCGGACGGGGCAGCTGGCCGGGCAGAGGGGCTCCTCT CTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCAGACAGG GTGGCTGGCAGGGCGGGGGGCTGACA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	388	0.0026	-275	c.761 others(17): Show c.761+1538_761+1812del	SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMIM9_chrX_154818348_154839662	154831507	ACAAAACG others(268): Show ACAAAACGTATCCAGAATCCTGCCACTTCACACCACCTCCACTGCTACCC ACCATCATCTCTGTCTTTCTGCTTCCGTCCTTGCCTCCCTTAAGCCTCTT CTCCAGTGAGTGGCCAAAGAGATCTTGGTAGGTTGTAGGTCAGATTATGT CCTAGTTACTGCTGACCACATATCCTATGAGTCTCCTCTTGATCATCACT CCAACTTAGCCTCATTTCATTTTGAACAAGCTAGGCATGTTCCTACCTTG GGGCTTTTTAACTTGCTTTTCCCTTT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03098.hp1 HG03486.hp2 others(1): Show HG02976.hp1 HG03098.hp1 HG03486.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0003g0020 a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0003g0020	4	300	0.0133	-275	c.-10 others(16): Show c.-100+792_-99-553del	SMIM9	ENSG00000203870.6	transcript	ENST00000369529.2	protein_coding	2/4			chrX	TogoVar
SORCS2_chr4_7187538_7747827	7455285	GTGTGTTG others(268): Show GTGTGTTGGGGTCAGGCACTGTGTTGGGGTCAGGCTCTGTGTTGGGGTCA GGCTCCGTGTTGGGGTCAGGCGCTATGTTGGGGTCAGGAGCTGTGTGTTG GGGTCAGGTGCTGTGTTGGGGTCAGGCACTGTGTTGGGGTCAGTGCTGTG TGTTGGGGTCAGGAGCTGTGTGTTGGGGTCAGGTGCTGTATTGGGGTCAG GCTCCGTGTTGGGGTCAGGCTCCGTGTTGGGGTCAGCCTCCGTGTTAGTG TCATGCGCCACGTTAGGGTCAGGCAC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0146 a0001c0048t0001g0146	1	168	0.0060	-275	c.548 others(19): Show c.548+58946_548+59220del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7481882	ACCTGACG others(268): Show ACCTGACGCCGTTCAGACCTGTATCCCCACTGCGGACACCCCTGACGTTG TTCAGACCTGTATCCCCACTGCGGACACCCCTGACGCTGTTCAGACCTGT ATCCCCACTGCGGACACCCCTGGCTGCTGTTCAGACCTGTATCCCCACTG CGGACACCCCTGACGCCGTTCAGACCTGTATCCCCACCGTGGACACCCCT GGCTACTGTTCAGACCTGTATCCCCACTGCGGACACCCCTGACGCTGTTC AGACCTGTATCCCCGCTGCGGACACC	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00438.hp2 others(43): Show HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG01069.hp2 HG01070.hp2 HG01123.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01361.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp2 HG01981.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02300.hp1 HG02717.hp2 HG02922.hp2 HG03195.hp2 HG03239.hp1 HG03710.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18966.hp1 NA19000.hp1 NA19000.hp2 NA19066.hp1 NA20752.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0005 a0012 a0015	a0001c0001 a0001c0002 a0001c0003 others(17): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0016 a0001c0017 a0001c0026 a0001c0031 a0001c0033 a0001c0034 a0001c0049 a0001c0051 a0002c0004 a0002c0050 a0004c0007 a0005c0008 a0012c0039 a0015c0023	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 others(38): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0057 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0007 a0001c0002t0041 a0001c0002t0043 a0001c0002t0053 a0001c0003t0001 a0001c0003t0003 a0001c0003t0009 a0001c0003t0010 a0001c0003t0016 a0001c0005t0001 a0001c0006t0001 a0001c0006t0002 a0001c0009t0001 a0001c0016t0001 a0001c0017t0016 a0001c0026t0062 a0001c0031t0026 a0001c0033t0075 a0001c0034t0009 a0001c0049t0001 a0001c0051t0001 a0002c0004t0002 a0002c0004t0003 a0002c0004t0008 a0002c0004t0014 a0002c0004t0056 a0002c0050t0045 a0004c0007t0001 a0005c0008t0001 a0012c0039t0063 a0015c0023t0008	a0001c0001t0002g0089 a0001c0001t0006g0055 a0001c0001t0007g0063 others(43): Show a0001c0001t0002g0089 a0001c0001t0006g0055 a0001c0001t0007g0063 a0001c0001t0008g0142 a0001c0001t0012g0036 a0001c0001t0057g0094 a0001c0002t0001g0087 a0001c0002t0001g0143 a0001c0002t0002g0062 a0001c0002t0002g0074 a0001c0002t0002g0133 a0001c0002t0003g0131 a0001c0002t0005g0069 a0001c0002t0007g0008 a0001c0002t0041g0096 a0001c0002t0043g0070 a0001c0002t0053g0082 a0001c0003t0001g0081 a0001c0003t0003g0088 a0001c0003t0009g0086 a0001c0003t0010g0021 a0001c0003t0016g0091 a0001c0005t0001g0156 a0001c0006t0001g0054 a0001c0006t0001g0119 a0001c0006t0002g0118 a0001c0009t0001g0151 a0001c0016t0001g0009 a0001c0017t0016g0124 a0001c0026t0062g0049 a0001c0031t0026g0144 a0001c0033t0075g0160 a0001c0034t0009g0093 a0001c0049t0001g0059 a0001c0051t0001g0068 a0002c0004t0002g0127 a0002c0004t0003g0012 a0002c0004t0003g0095 a0002c0004t0008g0060 a0002c0004t0014g0110 a0002c0004t0056g0134 a0002c0050t0045g0132 a0004c0007t0001g0026 a0005c0008t0001g0006 a0012c0039t0063g0064 a0015c0023t0008g0122	46	168	0.2738	-275	c.549 others(19): Show c.549-49639_549-49365del	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SSH2_chr17_29620938_29935228	29895629	ATATAAAA others(268): Show ATATAAAATATATTTTATATACACATTTTATATATGAAATATATAAAATA TATTTTATATACACATTTTATATATGAAATATATAAAATATATTTTATAT ACACATTTCATATATAAAATGTATTTTATATACACATTTCATGTATAAAA TGTATTTTATATACACATTTCATGTATAAAATGTATTTTATATACACATT TCATGTATAAAATGTATTTTATATACACATTTCATGTATAAAATGTATTT TATATACACATTTCATGTATAAAATG	A A	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0010 a0001c0003t0010	a0001c0003t0010g0132 a0001c0003t0010g0132	1	232	0.0043	-275	c.63+ others(17): Show c.63+34034_63+34308del	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
TCF3_chr19_1604292_1657615	1627878	GGGGGTGA others(268): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCG GGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGA GGCGGGAAGGGGACAGCAGAACTCAC	G G	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0128 a0003c0006t0001g0128	1	352	0.0028	-275	c.299 others(15): Show c.299-727_299-453del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628530	GGGGGTGA others(268): Show GGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGGCAGGAA GGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACT CACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGG AAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGA GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGATGA GGCGGGAAGGGGACAGCAGAACTCAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0227 a0001c0003t0001g0227	1	352	0.0028	-275	c.299 others(17): Show c.299-1379_299-1105del	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TKT_chr3_53219712_53261022	53247358	AAAAAAAA others(268): Show AAAAAAAAAAAAAAAAAAAAATTTAGAAGAGGCCAGGGGCGGTGGCTCAC CTGAGGCACCTGAGGTCAGGAGTTCAAGACCGGCCTGGCCAACATGGCAA AACCCCGCCTCTACTAAAAACACAAAAATTAGCTGGGCATGGTGGTGCGG GCCACTAGTCCCAGCTACTTTACATGGGAGGCTAAGGCAGGAGAATTGCT TGAACCTGGGAGGCAGAGGCTGCAGTGAGCCGAGATCGCACCACTGCACT CCAGCCTAGGCAACAGACTCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0045 a0001c0003t0005g0045	1	378	0.0027	-275	c.108 others(17): Show c.108-5391_108-5117del	TKT	ENSG00000163931.17	transcript	ENST00000462138.6	protein_coding	1/13			chr3	TogoVar
TSNARE1_chr8_142207080_142408182	142391068	GGGGGACT others(268): Show GGGGGACTCTAACAGACGCTGTACACTGCTGGGGACTCTAACAGACGCTG TACACTGCTGGGGACTCTGTAACAGACGCTGTACACTGCTGGGGACTCTG TAACAGACGCTGTACACTGCTGGGGACTCTGTAACAGACGCTGTACACTG CAGGGGACTCTATAGCAGACGCTGTACACTGCTGGGGACTCTATAACAGA CGCTGTACACTGCTGGGGACTCTGTAACAGACGCTGTACACTGCTGGAGA CTCTGTAACAGACGCTGTACACTGCT	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0227 a0004c0004t0002g0227	1	238	0.0042	-275	c.-40 others(19): Show c.-40+11761_-40+12035del	TSNARE1	ENSG00000171045.16	transcript	ENST00000524325.6	protein_coding	1/13			chr8	TogoVar
UNKL_chr16_1358205_1419704	1373594	GCACACCG others(268): Show GCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCAGCAGC GTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGACCTCA GCAGCGTGGAGCACACCGCACAGGGACTGCCGGCCAACACCGCACAGAGA CCTCAGCAGCGTGGGGCACACCGCACAGGGACTGCCGGCCTACACCGCAC AGAGACCTCAGCAGCGTGGAGCACACCACACAGGGACTGCCGGCCAACAC CGCACAGAGACCTCAGCAGCATGGAA	G G	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0029 a0001c0006t0029	a0001c0006t0029g0311 a0001c0006t0029g0311	1	322	0.0031	-275	c.126 others(19): Show c.1265-2258_1265-1984del	UNKL	ENSG00000059145.19	transcript	ENST00000389221.9	protein_coding	10/14			chr16	TogoVar
USP13_chr3_179648040_179794401	179727829	GGCTGGCC others(268): Show GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGGTGGGGGGCTGA CCCCCCCACCTCCCTCTCGGACGAGGCGGCTGGCTGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCAGGTGGGGGGCTGATC CCCACCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCACCTCCCTCCCGGACGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	300	0.0033	-275	c.108 others(19): Show c.1089-2274_1089-2000del	USP13	ENSG00000058056.10	transcript	ENST00000263966.8	protein_coding	8/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ACAP3_chr1_1287391_1312930	1289442	TCTGCTCC others(267): Show TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTG CTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTC TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCC CGTGTCTCTGCTCCGTCCCGTGTCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	295	0.0034	-274	c.38 others(11): Show c.3848_*4121del	ACAP3	ENSG00000131584.19	transcript	ENST00000354700.10	protein_coding		2948		chr1	TogoVar
ACSBG2_chr19_6130667_6198091	6152279	ATTTTTTT others(267): Show ATTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGGCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAATT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp2 HG03453.hp1 HG02257.hp2 HG02572.hp2 HG03453.hp1	a0001 a0003 a0014 a0001 a0003 a0014	a0001c0001 a0003c0012 a0014c0023 a0001c0001 a0003c0012 a0014c0023	a0001c0001t0001 a0003c0012t0002 a0014c0023t0001 a0001c0001t0001 a0003c0012t0002 a0014c0023t0001	a0001c0001t0001g0150 a0003c0012t0002g0197 a0014c0023t0001g0201 a0001c0001t0001g0150 a0003c0012t0002g0197 a0014c0023t0001g0201	3	262	0.0115	-274	c.386 others(15): Show c.386+502_386+775del	ACSBG2	ENSG00000130377.14	transcript	ENST00000588485.6	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
ANO1_chr11_70073317_70194530	70121982	GTCTCTGT others(267): Show GTCTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTCTCCATCTCCCC CGCCTCTCTCTGTCTCTCTGTCTCTGTCTCTCCATCTGCCTCTGTCTCTC TCTCTCTCCGTCTCCCCCACCTCTCTCTGTCTGTCTCTCTATCTCTGTCT CTCCATCTGCCTCTGTCTCTGTCTCTCTCTCCATCTCCCCCACCTCTCTG TCTGTCTTTCTGTCTCTCCATCTGCCTCTGTCTCTGTCTCTCTCTCCATC TCCCCCACCTCTCTGTCTGTCTCTA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0014 a0001c0004t0001g0014	1	302	0.0033	-274	c.898 others(17): Show c.898-2189_898-1916del	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	8/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
BANP_chr16_87946434_88082316	87999371	CGTCTCCA others(267): Show CGTCTCCATGCACGCACGTGCGCGGCTGGACTTACCTGTCCTTCCAGACA CCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGGACTTACCTGTCCT TCCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGCTGGACTTA CCTGTCCTTCCAGACACCCAGACACGTCTCCATGCACGCACGTGCGCGGC TGGACTTACCTGTCCTTCCAGACGCGTCTCCATACACGCACGTGCGCGGC TGTACTTACCTGTCCTTCCAGACGT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02818.hp1 others(4): Show HG01884.hp1 HG02257.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp2 HG02976.hp2 NA18906.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0109 a0001c0008t0001g0110 a0001c0008t0001g0111 others(4): Show a0001c0008t0001g0109 a0001c0008t0001g0110 a0001c0008t0001g0111 a0001c0008t0001g0270 a0001c0008t0001g0271 a0001c0008t0001g0272 a0001c0008t0001g0273	7	352	0.0199	-274	c.363 others(17): Show c.363-4896_363-4623del	BANP	ENSG00000172530.22	transcript	ENST00000682872.1	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
BMP7_chr20_57163753_57271641	57219053	TGGCATTT others(267): Show TGGCATTTGTTTGGTGGTAGCTGGCGTTTGTTCAGTGGTAGCTGGTGTTT GGTGGTAGCTGGTGTTTGTTCGGTGGTAGCTGTTCGGTGGTAGCTGGTGT TCAGTGGTAGCTGTTCGGTGGTAGCTGGTGTTTGTTCAGTGGTAGCTGGT GTTTGTTCGGTGGTAGGTGGTGTTTGGTGGTAGCTGGTGTTTGCTGGTAG CTGGTGTTTGCTGGTAGGTGGTGTTTGGTGGTAGGTAGCAGTGAGCAAGG TAAGTGGGAAGGTGGGAAGAAGACA	T T	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00741.hp2 HG01175.hp1 others(46): Show HG00738.hp2 HG00741.hp2 HG01175.hp1 HG01255.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp2 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02723.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0001t0023 a0001c0001t0025 a0001c0002t0001 a0001c0002t0003 a0001c0002t0007 a0001c0002t0009 a0001c0005t0011	a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 others(45): Show a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0089 a0001c0001t0003g0029 a0001c0001t0003g0039 a0001c0001t0003g0097 a0001c0001t0003g0112 a0001c0001t0004g0241 a0001c0001t0004g0242 a0001c0001t0004g0244 a0001c0001t0004g0245 a0001c0001t0004g0254 a0001c0001t0006g0232 a0001c0001t0006g0251 a0001c0001t0009g0042 a0001c0001t0012g0233 a0001c0001t0014g0237 a0001c0001t0023g0038 a0001c0001t0025g0246 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0016 a0001c0002t0003g0001 a0001c0002t0003g0010 a0001c0002t0003g0017 a0001c0002t0003g0018 a0001c0002t0007g0007 a0001c0002t0009g0015 a0001c0005t0011g0234 a0001c0005t0011g0235	49	272	0.1802	-274	c.611 others(17): Show c.611+8902_611+9175del	BMP7	ENSG00000101144.13	transcript	ENST00000395863.8	protein_coding	2/6			chr20	TogoVar
C7orf50_chr7_992006_1143247	1129019	CGTCACCC others(267): Show CGTCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCATC ACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTCACCT GGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCCGGGC TGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGA GTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCACCCGGGCTGGAGTGC AGTGGCGCGATCTCGGCTCATCCCA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	326	0.0031	-274	c.-1- others(15): Show c.-1-1907_-1-1634del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1129065	CATCACCC others(267): Show CATCACCCGGGCTGGAGTGCAGTGGCGCCATCTCGGCTCATCCCACCGTC ACCTGGGCTGGAGTGCAGTGGCGCGATCTCAGCTCATCTCACCGTCACCC GGGCTGGAGTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGC TGGAGTGCAGTGGCGCCATCTCGGCTCATCTCACCGTCACCCGGGCTGGA GTGCAGTGGCGCGATCTCGGCTCATCCCACCGTCACCCGGGCTGGAGTGC AGTGGCGCCATCTCGGCTCATCCCA	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0298 a0001c0001t0003g0298	1	326	0.0031	-274	c.-1- others(15): Show c.-1-1953_-1-1680del	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	1/4			chr7	TogoVar
CDK12_chr17_39456486_39539544	39498934	TCTTTCTT others(267): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCC	T T	intron_variant intron_variant	MODIFIER	HG02886.hp1 NA19000.hp1 HG02886.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0206 a0001c0001t0001g0184 a0001c0001t0001g0206	2	260	0.0077	-274	c.242 others(19): Show c.2420-2315_2420-2042del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13			chr17	TogoVar
CDK12_chr17_39456486_39539544	39498935	CTTTCTTT others(267): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCCT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	260	0.0039	-274	c.242 others(19): Show c.2420-2311_2420-2038del	CDK12	ENSG00000167258.16	transcript	ENST00000447079.6	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CTBP1_chr4_1206445_1254130	1240236	GGGGCACT others(267): Show GGGGCACTCCCGGGTGCTGGGTGAGTGGGACCGGGTCCCTCGTCGGAACC GCCTGGGGGGACTCCCGGGTGCTGGGTGAGTGGGAACCGGGTCCCTCGTC GGAACCGCGTGGGGGACTCCCGGGTGCTGGGTGAGTGGGAACCGGGTCCC TCGTCGGAACCGCGTGGGGGACTCCCGGGTGCTGGGTGAGTGGGAACCGG GTCCCTCGTCGGAACCGCGTGGGGGACTCCCGGGTGCTGGGTGAGTGGGA ACCGGGTCCCTCGTCGGAACCGCGT	G G	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	422	0.0024	-274	c.7+8 others(12): Show c.7+815_7+1088del	CTBP1	ENSG00000159692.18	transcript	ENST00000382952.8	protein_coding	2/9			chr4	TogoVar
DDX51_chr12_132131594_132149319	132149045	ACTCACAC others(267): Show ACTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCT ACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACA CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCC TCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCGCTCACACCAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG03239.hp1 HG02896.hp1 HG03239.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0005 a0001c0001t0001 a0002c0005t0005	a0001c0001t0001g0001 a0002c0005t0005g0008 a0001c0001t0001g0001 a0002c0005t0005g0008	2	334	0.0060	-274	c.-50 others(11): Show c.-5023_-4750del	DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding		4727		chr12	TogoVar
DGKB_chr7_14140049_14907751	14212090	TTTTACTC others(267): Show TTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTC TCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATATTTACTCTCATGTT TTGTGATTTTACTCTCGTGTTTTGTGATTTTACTCTCATGTTTTGTGATT TTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTC ATGTTTTGTGATTTTACTCTCATGTTTTGTGATTTTACTCTCATGTTTTG TGATATTTACTCTCATGTTTTGTGA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0120 a0001c0002t0012g0120	1	148	0.0068	-274	c.212 others(21): Show c.2123-34213_2123-33940del	DGKB	ENSG00000136267.14	transcript	ENST00000402815.6	protein_coding	23/25			chr7	TogoVar
DHDDS_chr1_26427321_26476306	26441018	AGGTTCAA others(267): Show AGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGATTACAG GCCTGCGCCACCACACCCGGCTAATTTTTGCATTTTTAGTAGAGACGGGG TTTCACCACGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCGC CTGCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCACGCC CGGCCTGTTTTTTTTTGAGTTGAAGTCTCACTCTGTAGTCTAGGCTGGAG TGCAGTGGTGAGATCTCCACTCACT	A A	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18981.hp1 NA18966.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0055 a0001c0001t0003g0056	2	314	0.0064	-274	c.181 others(17): Show c.181-1682_181-1409del	DHDDS	ENSG00000117682.18	transcript	ENST00000236342.12	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
DLGAP2_chr8_732628_1713476	1180875	GTTGTGTG others(267): Show GTTGTGTGTAAGGGCAGTACACTTACTGTCGAGTGTGGGTGGCTGTGCAA GGGCAGTACACTTACTGTCGAGTGTGGGTGGCTGTGCAAGGGCAGTACAC TTACTGTCGAGTGTGGGTGGCTGTGCAAGGGCAGTACACTTACTGTCGAG TGTGGGTGGCTGTGCAAGGGCAGTACACTTACTGTCGAGTGTGGGTGGCT GTGCAAGGGCAGTCACTTACTGTCGAGTGTGGGTGGCTGTGCAAGGGCAG TCACTTACTGTCGAGTGTGGGTGGC	G G	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03486.hp2 HG03516.hp2 HG02976.hp1 HG03486.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0009 a0002c0001 a0001c0003 a0001c0009 a0002c0001	a0001c0003t0001 a0001c0009t0012 a0002c0001t0002 a0001c0003t0001 a0001c0009t0012 a0002c0001t0002	a0001c0003t0001g0026 a0001c0009t0012g0006 a0002c0001t0002g0032 a0001c0003t0001g0026 a0001c0009t0012g0006 a0002c0001t0002g0032	3	40	0.0750	-274	c.74- others(17): Show c.74-77974_74-77701del	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERC2_chr3_55503311_56473467	55938077	TTATGATT others(267): Show TTATGATTAGGTCTTCATGGTTCTGTCTGTCCATTAGACAGGGCATGAGA GAGAAGCAAGAACCCAGCCTCGAAAAACCAAGAGGTTCTTTCAGAGCCCA ACATGATGCCTGTGGAATGAATGAATAGATTAAAACTTTCATTTCAGAAG CATTTAAAATATAGAGCTATGTCCTTATTTTTATATGGGAAACAATAAGC TTTGAGAATTAAAAACATTACAGAAAAGAATGTCCTTGCCCAACTGCCAT ATATCTCCCAGACTTCATAGCTAAC	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03834.hp2 NA18962.hp1 HG02258.hp2 HG03834.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0021 a0001c0001t0002g0040 a0001c0001t0005g0071 a0001c0001t0002g0021 a0001c0001t0002g0040 a0001c0001t0005g0071	3	74	0.0405	-274	c.240 others(21): Show c.2403+12074_2403+12347del	ERC2	ENSG00000187672.15	transcript	ENST00000288221.11	protein_coding	13/17			chr3	TogoVar
ERICH1_chr8_659200_736224	675101	AGTGAGGA others(267): Show AGTGAGGACAGAGACGTGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGG CCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCG GCGCCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAG ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGC GAGGACAGAGACGCGGCGGCCCCTC	A A	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02818.hp1 HG03927.hp2 HG02273.hp2 HG02818.hp1 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0091 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0091	3	378	0.0079	-274	c.305 others(17): Show c.305-1328_305-1055del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675184	GTGAGGAC others(267): Show GTGAGGACAGAGACGCGGCGCCCCCTCGTGAGGACAGAGACGCGGCGGCC CCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGG CGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGA CGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGAC AGAGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGGC GAGGACAGAGACGCGGCGGCCCCTC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	378	0.0027	-274	c.305 others(17): Show c.305-1411_305-1138del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675444	ACGCGGCG others(267): Show ACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGA CAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGC GAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCC TCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCG CCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGTGAGGACAGAGG	A A	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	378	0.0027	-274	c.305 others(17): Show c.305-1671_305-1398del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675515	TGAGGACA others(267): Show TGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCC CCTCGTGAGGACAGAGACGCGGCGGCCCCTCGGCGAGGACAGAGACGCGG CGGCCCCTCGTGAGGACAGAGACGCGGCGCCCCCTCGGCGAGGACAGAGA CGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACA GAGGCGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGACGCGGCGGCCCCTCGGC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0076 a0001c0002t0001g0076	1	378	0.0027	-274	c.305 others(17): Show c.305-1742_305-1469del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
ERICH1_chr8_659200_736224	675534	GCCCCTCG others(267): Show GCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACG CGGCGGCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAG AGACGCGGCGCCCCCTCGGCGAGGACAGAGACGCGGCGGCCCCTCGTGAG GACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGGCGCGGCGGCCCCTCG TGAGGACAGAGACGCGGCGGCCCCTCGTGAGGACAGAGACGCGGCGGCCC CTCGGCGAGGACAGAGACGCGGCGC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0210 a0001c0013t0001g0210	1	378	0.0027	-274	c.305 others(17): Show c.305-1761_305-1488del	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	3/5			chr8	TogoVar
FRMD6_chr14_51646910_51735727	51694910	CCATGGCC others(267): Show CCATGGCCTTATTTAATTATAGTTTTTGAATAAGAGCACTGCTTACTTGA TATTTGTTAAAGAGCTTTACCAGTAGGCTTCAAATACTTGATTTAAACTA GCAGAACAATAATAAATGTATGGGCTGCATGGAGGAAATATATAACGTTA TTTGGTCTACAGTCACACGAGCCTAAAACAGTTTATTTCCTATACATTTA GTTTGTGGTTTGGAATTTTAACTTCTTATGGCATTTTATCTTGGCTGCCT TGTACCCAACGTTTTTAAATACAGT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03098.hp1 HG03195.hp1 others(1): Show HG02723.hp2 HG03098.hp1 HG03195.hp1 NA19030.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0140 a0001c0004t0001g0141 a0001c0004t0001g0207 others(1): Show a0001c0004t0001g0140 a0001c0004t0001g0141 a0001c0004t0001g0207 a0001c0004t0001g0208	4	390	0.0103	-274	c.100 others(17): Show c.100-3229_100-2956del	FRMD6	ENSG00000139926.16	transcript	ENST00000344768.10	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
GRHL1_chr2_9946693_10007277	9998590	ATATGTAC others(267): Show ATATGTACACATATATATATACATATATATGTACACATATACATATATAT GTACACATATACATATACATATATATGTACACATATATATACATATATAT GTACACACATATATATACATATATATGTACACACATATATACGTATATAT GTACACACATATATACGTATATATATGTACACACATATATACGTATATAT ATGTACACACATATATATACGTATATATATGTACACATATATATATACGT ATATATATGTACACATATATATACG	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02723.hp2 NA19240.hp2 HG02145.hp2 HG02723.hp2 NA19240.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0350 a0001c0006t0006g0357 a0001c0006t0006g0358 a0001c0006t0006g0350 a0001c0006t0006g0357 a0001c0006t0006g0358	3	418	0.0072	-274	c.167 others(16): Show c.1678-371_1678-98del	GRHL1	ENSG00000134317.18	transcript	ENST00000324907.14	protein_coding	14/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
GZMA_chr5_55097646_55115252	55105988	AAAATAAA others(267): Show AAAATAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAATAAA ATAAAATAAAATAAAATAAAATAAAATAAATAAAATAAAATAAAATAAAT AAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAAAATAA AATAAAATAAAATAAAATAAAATAAAATAAAAAATAAAATAAAATAAAAT AAAATAAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02155.hp2 HG02895.hp2 others(3): Show HG01243.hp1 HG02155.hp2 HG02895.hp2 HG02897.hp2 HG04204.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0058 others(2): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0002t0001g0017	6	390	0.0154	-274	c.215 others(15): Show c.215+378_215+651del	GZMA	ENSG00000145649.8	transcript	ENST00000274306.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
HDAC4_chr2_239043168_239406020	239366783	TGCAACCC others(267): Show TGCAACCCCACGAAGGAAAACATGACTTATCCCTGACTTATCCCTGCCCT ACGCAGGGCACCCCCAGGGCAGGTGACAAACAGCCCCAGAACCTTATGTC AGTACCAGACTAAGTAAGGAAAGATCTCTTCCACCATAACCACCATGCAC CCAAGCACGCGTAGCTTCACCAACAACGGGCCTGAATTGAGCTTCACCAA CAACATGCCTGAAAGCCTCCGTCACTGACAGGCACTTGCGGATGGAAAAC AACCCTTTGACAAAAGACCCTATCG	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01993.hp2 others(18): Show HG00642.hp2 HG00741.hp2 HG01993.hp2 HG02109.hp2 HG02559.hp2 HG02615.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp2 NA18906.hp1 NA19043.hp2 NA19240.hp1 NA21309.hp1 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0009 a0001c0010 a0003c0019	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(17): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0039 a0001c0001t0055 a0001c0002t0008 a0001c0003t0001 a0001c0003t0005 a0001c0003t0034 a0001c0004t0004 a0001c0004t0068 a0001c0004t0071 a0001c0004t0073 a0001c0005t0001 a0001c0007t0007 a0001c0007t0036 a0001c0009t0054 a0001c0010t0008 a0003c0019t0019	a0001c0001t0001g0025 a0001c0001t0003g0065 a0001c0001t0005g0016 others(18): Show a0001c0001t0001g0025 a0001c0001t0003g0065 a0001c0001t0005g0016 a0001c0001t0007g0052 a0001c0001t0039g0219 a0001c0001t0055g0077 a0001c0002t0008g0131 a0001c0003t0001g0023 a0001c0003t0005g0230 a0001c0003t0034g0007 a0001c0004t0004g0009 a0001c0004t0004g0013 a0001c0004t0068g0091 a0001c0004t0071g0022 a0001c0004t0073g0014 a0001c0005t0001g0010 a0001c0007t0007g0015 a0001c0007t0036g0011 a0001c0009t0054g0122 a0001c0010t0008g0067 a0003c0019t0019g0008	21	242	0.0868	-274	c.-21 others(21): Show c.-219-14139_-219-13866del	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	1/26			chr2	TogoVar
HGF_chr7_81694010_81775047	81729021	GATACTCA others(267): Show GATACTCAAGGGCAGTTTCTTTGGCTTGAGTCATCTACACAATTGATTTG CTTCCCCACTTTTCAAAGCAAATCCAGAAACAACTGAACACATTCATTTA AGCTTTGAAAAATTATTTTATTCACAGATCTTTAAGGCTAATAACTCTTC AGTGGTAGGCCTTTTCTTTCCATTCTTTCGAAAGGAAAAATGTGTAATCC TCCCAAAGCTAATACGAAAATTTAAGAAGGCAGTATTTTGAAACATGCCT GGCTGCCATGACTATTAACTGATTT	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00438.hp1 others(196): Show HG00140.hp2 HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01884.hp2 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18946.hp2 NA18948.hp1 NA18952.hp2 NA18955.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18987.hp2 NA18993.hp1 NA18993.hp2 NA19000.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19076.hp1 NA19076.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19086.hp1 NA19086.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0007 a0001c0008 a0001c0011 a0002c0003 a0003c0006 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0005t0006 a0001c0007t0001 a0001c0008t0001 a0001c0011t0006 a0002c0003t0001 a0003c0006t0001 a0004c0010t0003	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 others(192): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0163 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0002g0171 a0001c0001t0003g0007 a0001c0001t0003g0137 a0001c0001t0003g0199 a0001c0001t0003g0203 a0001c0001t0003g0217 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0232 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0247 a0001c0001t0005g0107 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0140 a0001c0001t0005g0142 a0001c0001t0005g0164 a0001c0001t0006g0006 a0001c0001t0008g0029 a0001c0001t0008g0066 a0001c0001t0008g0068 a0001c0001t0008g0074 a0001c0001t0008g0209 a0001c0001t0012g0051 a0001c0001t0013g0069 a0001c0002t0001g0092 a0001c0002t0001g0248 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0003g0091 a0001c0002t0003g0099 a0001c0002t0003g0100 a0001c0002t0003g0255 a0001c0002t0004g0098 a0001c0002t0004g0119 a0001c0002t0004g0120 a0001c0002t0005g0096 a0001c0002t0006g0088 a0001c0002t0006g0089 a0001c0002t0006g0090 a0001c0005t0006g0004 a0001c0007t0001g0079 a0001c0008t0001g0062 a0001c0011t0006g0097 a0002c0003t0001g0008 a0002c0003t0001g0059 a0002c0003t0001g0064 a0003c0006t0001g0179 a0004c0010t0003g0202	199	272	0.7316	-274	c.104 others(17): Show c.1040+310_1040+583del	HGF	ENSG00000019991.18	transcript	ENST00000222390.11	protein_coding	8/17			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930189	ACACTGCC others(267): Show ACACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCC GTCCCCACTGCCACGTCCCCTCGCACAGTCCCCGATGCCACGTCACCTCG CCCCATCCCCCAATGCCATGTCCCCTCGCCCCGTCCCCAGTGCCAGGTCC CCTCGCCCCATCCCCCAGTGCCACGTCCCCTCGCCCCATCCCCCAGTGCC ACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCAC TGCCACGTCCCCTCGCCCCATCCCC	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02976.hp2 HG03471.hp2 HG01243.hp1 HG02976.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0246 a0001c0001t0006g0262 a0001c0001t0006g0263 a0001c0001t0001g0246 a0001c0001t0006g0262 a0001c0001t0006g0263	3	264	0.0114	-274	c.180 others(19): Show c.1807+6224_1807+6497del	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MEF2B_chr19_19140567_19175263	19147209	GAGGACCC others(267): Show GAGGACCCCAGGCCAGATGGGGGTGCCAAGTCCAAGGGAGAAAATCCTGA TGAGTTCAGGGGCCCAGCTCTACCTTCAGGAAGCCTTTGCTCCACCTCCC ACCAGGCTCCCTACCTGCTCCTCCCCCTGCCCTAACCCTACAGGCTGGGG GAGCTTCTGTCTGGCTCTGCCTGTCCTTGACAGGTAGGTCCAGAGCCAAG ACCTCTCACTTAGTGTAGAGTTGGCACTGAGGGGGCTGCACAGAGTGTTT GATGAATCAAAGATGAAATGAAGGA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00408.hp2 others(129): Show HG00140.hp1 HG00280.hp2 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp2 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01070.hp2 HG01109.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp1 HG01934.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02040.hp1 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02602.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03540.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03927.hp2 HG04204.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18949.hp1 NA18952.hp1 NA18953.hp2 NA18955.hp1 NA18957.hp2 NA18960.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18980.hp1 NA18984.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp2 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp2 NA19000.hp2 NA19004.hp2 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19058.hp2 NA19059.hp2 NA19063.hp1 NA19064.hp2 NA19068.hp2 NA19075.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19088.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1	a0001 a0006 a0008 a0001 a0006 a0008	a0001c0001 a0006c0009 a0008c0010 a0001c0001 a0006c0009 a0008c0010	a0001c0001t0001 a0006c0009t0001 a0008c0010t0001 a0001c0001t0001 a0006c0009t0001 a0008c0010t0001	a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 others(109): Show a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0147 a0001c0001t0001g0152 a0001c0001t0001g0155 a0001c0001t0001g0166 a0001c0001t0001g0172 a0001c0001t0001g0176 a0001c0001t0001g0187 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0001g0235 a0001c0001t0001g0245 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0320 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0006c0009t0001g0326 a0008c0010t0001g0240	132	404	0.3267	-274	c.393 others(14): Show c.393+215_394-27del	MEF2B	ENSG00000213999.17	transcript	ENST00000424583.7	protein_coding	4/8			chr19	TogoVar
MTA3_chr2_42563632_42761946	42605357	ACCTCCCG others(267): Show ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGCTCCTCACTTCCCAGT AGGGGCGGCCGGGCAGAGGCGCCCCCTCACCTCCCGGACGGGGCGGCTGG CGGGCAGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC GGGCGGGGGGCTGACCCCCCAACCTCCCTCCCGGACGGGGCGACTGGCCG GGCGGGGGGCTGACACCCCCACCTC	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp1 HG02886.hp2 others(4): Show HG02559.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG03453.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0009 a0001c0001t0002 a0001c0001t0007 a0001c0001t0009	a0001c0001t0002g0012 a0001c0001t0002g0237 a0001c0001t0002g0280 others(4): Show a0001c0001t0002g0012 a0001c0001t0002g0237 a0001c0001t0002g0280 a0001c0001t0007g0238 a0001c0001t0007g0239 a0001c0001t0009g0278 a0001c0001t0009g0279	7	312	0.0224	-274	c.191 others(17): Show c.191-4042_191-3769del	MTA3	ENSG00000057935.14	transcript	ENST00000405094.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
NGEF_chr2_232873701_233018256	232905936	GGTGAGGG others(267): Show GGTGAGGGGCACCTCTGCCTGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCC CCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGAGGGGGTCAGCCCCC CGCCTGGTCAGCCGTCCCGTCTGGGAGGGAGGTGGGGGTCTCAGCCCCCC GCCCGGCCACCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCTGGCCAGCCGCCCCGTCCGGGAA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02896.hp1 HG02897.hp1 HG02559.hp2 HG02896.hp1 HG02897.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0002c0010 a0001c0003 a0002c0010	a0001c0003t0019 a0002c0010t0001 a0001c0003t0019 a0002c0010t0001	a0001c0003t0019g0126 a0001c0003t0019g0159 a0002c0010t0001g0250 a0001c0003t0019g0126 a0001c0003t0019g0159 a0002c0010t0001g0250	3	362	0.0083	-274	c.829 others(19): Show c.829-11294_829-11021del	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	5/14			chr2	TogoVar
NOD1_chr7_30419527_30483784	30446362	GGCCTGGG others(267): Show GGCCTGGGCCTCCTGTCAGGGAGGGAACTGAAGCCCTGAGGACAGTCAGT CAGGGTTCCTCTCCAGGAGATGGTCCACAGTCTCTGCAGAAGCTCAGGGA CCTGAGCCCTCCCTGGGGTCCTCTAATTGACCTCAGCAGCATCACTGACT TCCCTCGGGAGACCTGGGAGGTCCCACTTTGACTGCCAAGGGTCAAGGTA TGTGGCCACTGTCAGGGCAGGACCAGAGGCTCCAAGCCTGGCGCACTGTC ACCCCCTGCGCAGGGCACACCTACA	G G	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02135.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0114 a0002c0002t0002g0114	1	358	0.0028	-274	c.236 others(17): Show c.2369+331_2370-139del	NOD1	ENSG00000106100.11	transcript	ENST00000222823.9	protein_coding	8/13			chr7	TogoVar

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