Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CSF2RA_chrX_1263814_1314935	1298686	T T	TCCTACCC others(209): Show TCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCACGACCCC TACACTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCA CGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCC CTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCG GTGGAACCCTACAGTCC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0082 a0001c0002t0008g0082	1	159	0.0063	216	c.811 others(233): Show c.811-1792_811-1791insCCTGGCAGAACCCTACAGTCCCCTACTC ACGACCCCTACACTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCC CCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCT ACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCAC AACCCCCGGTGGAACCCTACAGTCCCCTACCCATGACC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298686	T T	TCCTACCC others(209): Show TCCTACCCATGACCCCTGGCAGAACCGTACAGTCCCCTACTCACGACCCC TACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCA CGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCC CTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCC GTGGAACCCTACAGTCC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03225.hp2 HG02922.hp1 HG03225.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0009 a0001c0001 a0003c0009	a0001c0001t0002 a0003c0009t0002 a0001c0001t0002 a0003c0009t0002	a0001c0001t0002g0061 a0003c0009t0002g0104 a0001c0001t0002g0061 a0003c0009t0002g0104	2	159	0.0126	216	c.811 others(233): Show c.811-1792_811-1791insCCTGGCAGAACCGTACAGTCCCCTACTC ACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCC CCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCT ACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCAC AACCCCCCGTGGAACCCTACAGTCCCCTACCCATGACC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSF2RA_chrX_1263814_1314935	1298686	T T	TCCTACCC others(209): Show TCCTACCCATGACCCCTGGCAGAACCGTACAGTCCCCTACTCACGACCCC TACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCCCCTACTCA CGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCC CTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCG GTGGAACCCTACAGTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01123.hp1 HG01169.hp1 others(11): Show HG00639.hp1 HG01123.hp1 HG01169.hp1 HG01891.hp1 HG02109.hp2 HG02165.hp2 HG02257.hp2 HG02559.hp2 HG02809.hp1 HG03041.hp1 HG03516.hp1 NA19011.hp2 NA20129.hp1 NA20300.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0002c0003t0002 a0002c0003t0005 a0002c0004t0004 a0002c0004t0005 a0002c0004t0007 a0006c0013t0003	a0001c0001t0001g0048 a0001c0001t0002g0031 a0001c0002t0001g0077 others(11): Show a0001c0001t0001g0048 a0001c0001t0002g0031 a0001c0002t0001g0077 a0001c0002t0004g0063 a0001c0002t0005g0123 a0002c0003t0002g0005 a0002c0003t0005g0010 a0002c0003t0005g0137 a0002c0004t0004g0023 a0002c0004t0005g0125 a0002c0004t0005g0127 a0002c0004t0005g0130 a0002c0004t0007g0152 a0006c0013t0003g0153	14	159	0.0881	216	c.811 others(233): Show c.811-1792_811-1791insCCTGGCAGAACCGTACAGTCCCCTACTC ACGACCCCTACAGTCTCCTACCCATGACCCCTGGCAGAACCCTACAGTCC CCTACTCACGACCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCT ACAGTCCCCTATTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCAC AACCCCCGGTGGAACCCTACAGTCCCCTACCCATGACC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CSMD1_chr8_2930361_4999914	3448323	G G	GCAAGGGA others(209): Show GCAAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGAAGGGAGGGAGG GAGGAGGAAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGG GAGGAAGGAAGAAGGGAGGGAGGGAGGGGGAGGAGGGAGGAGGAAGGGAA AGAAGGAAGGAAGAAAGGGAGGGAGGGAGAGAGGGAGGGAGGCAGGAGGG AGGGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp2 HG01081.hp1 others(19): Show HG00735.hp1 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01243.hp1 HG01255.hp2 HG02683.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG03669.hp2 HG03710.hp2 HG03834.hp2 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18979.hp1 NA18982.hp2 NA18984.hp1 NA19060.hp2 NA19090.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0005 a0006 a0011 a0013 a0025 a0033	a0001c0001 a0001c0005 a0001c0021 others(17): Show a0001c0001 a0001c0005 a0001c0021 a0001c0039 a0001c0040 a0001c0049 a0001c0059 a0001c0102 a0002c0012 a0002c0036 a0002c0048 a0002c0078 a0003c0056 a0005c0064 a0005c0065 a0006c0008 a0011c0016 a0013c0018 a0025c0066 a0033c0013	a0001c0001t0002 a0001c0001t0039 a0001c0005t0002 others(18): Show a0001c0001t0002 a0001c0001t0039 a0001c0005t0002 a0001c0021t0005 a0001c0039t0066 a0001c0040t0019 a0001c0049t0002 a0001c0059t0001 a0001c0102t0005 a0002c0012t0017 a0002c0036t0029 a0002c0048t0013 a0002c0078t0044 a0003c0056t0062 a0005c0064t0051 a0005c0065t0023 a0006c0008t0082 a0011c0016t0048 a0013c0018t0058 a0025c0066t0010 a0033c0013t0007	a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 others(19): Show a0001c0001t0002g0102 a0001c0001t0002g0125 a0001c0001t0039g0017 a0001c0005t0002g0111 a0001c0021t0005g0012 a0001c0039t0066g0080 a0001c0040t0019g0123 a0001c0049t0002g0071 a0001c0059t0001g0036 a0001c0102t0005g0034 a0002c0012t0017g0088 a0002c0036t0029g0009 a0002c0048t0013g0015 a0002c0078t0044g0064 a0003c0056t0062g0072 a0005c0064t0051g0078 a0005c0065t0023g0050 a0006c0008t0082g0126 a0011c0016t0048g0106 a0013c0018t0058g0068 a0025c0066t0010g0032 a0033c0013t0007g0112	22	126	0.1746	216	c.156 others(237): Show c.1561+20388_1561+20389insTCCCTCCCTCCCTCCCTCCCTCCT GCCTCCCTCCCTCTCTCCCTCCCTCCCTTTCTTCCTTCCTTCTTTCCCTT CCTCCTCCCTCCTCCCCCTCCCTCCCTCCCTTCTTCCTTCCTCCCTCCCT CCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTTCCTCCTCCCTCCCT CCCTTCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCTTG	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3448329	A A	AAGGGAGG others(209): Show AAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGAAGGAAGAAGGGAGGGAGGGAGGGGGAGGAGGGAGGAGGAAGGGAAAG AAGGAAGGAAGAAAGGGAGGGAGGGAGAGAGGGAGGGAGGCAGGAGGGAG GGAGGGAGGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG02723.hp1 NA19043.hp1 HG02723.hp1 NA19043.hp1	a0001 a0021 a0001 a0021	a0001c0093 a0021c0038 a0001c0093 a0021c0038	a0001c0093t0009 a0021c0038t0075 a0001c0093t0009 a0021c0038t0075	a0001c0093t0009g0007 a0021c0038t0075g0067 a0001c0093t0009g0007 a0021c0038t0075g0067	2	126	0.0159	216	c.156 others(237): Show c.1561+20382_1561+20383insCCCTCCTCCCTCCCTCCCTCCCTC CTGCCTCCCTCCCTCTCTCCCTCCCTCCCTTTCTTCCTTCCTTCTTTCCC TTCCTCCTCCCTCCTCCCCCTCCCTCCCTCCCTTCTTCCTTCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTTCCTCCTCCCTCC CTCCCTTCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3448329	A A	AAGGGAGG others(209): Show AAGGGAGGGAGGGAGGGAAGGAAGGAAGGAAGGAAGAAGGGAGGGAGGGA GGAGGAAGGGAGGGAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGA GGGAGGAAGAAGGGAGGGAGGGAGGGGGAGGAGGGAGGAGGAAGGGAAGG AAGGAAGGAAGAAAGGGAGGGAGGGAGAGAGGGAGGGAGGCAGGAGGGAG GGAGGGAGGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0016 a0016	a0016c0028 a0016c0028	a0016c0028t0024 a0016c0028t0024	a0016c0028t0024g0040 a0016c0028t0024g0040	1	126	0.0079	216	c.156 others(237): Show c.1561+20382_1561+20383insCCCTCCTCCCTCCCTCCCTCCCTC CTGCCTCCCTCCCTCTCTCCCTCCCTCCCTTTCTTCCTTCCTTCCTTCCC TTCCTCCTCCCTCCTCCCCCTCCCTCCCTCCCTTCTTCCTCCCTCCCTCC CTCCCTCCCTCCCTCCCTCCCTCCCTCCTCCCTCCCTTCCTCCTCCCTCC CTCCCTTCTTCCTTCCTTCCTTCCTTCCCTCCCTCCCTCCCT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	12/69			chr8	TogoVar
CSTF3_chr11_33079584_33166480	33148534	T T	TAAAAATA others(209): Show TAAAAATACAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCC AGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGA GCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0293 a0001c0001t0001g0293	1	360	0.0028	216	c.28- others(231): Show c.28-6549_28-6548insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCG CCCGCCACTACGCCCGGCTAATTTTTTTGTATTTTT	CSTF3	ENSG00000176102.13	transcript	ENST00000323959.9	protein_coding	1/20			chr11	TogoVar
CXorf51A_chrX_146809106_146819744	146812296	T T	TATATACG others(209): Show TATATACGTATATACACACATATATGTGTACATATATGTGTATATACGTA TATACACACGTATATGTGTACATATATGTGTATATATGTATATACACACG TATATGTGTACATATATGTGTATATATGTATATACACACGTATATGTGTA CATATATGTGTATGTATGTATATACACACATATATGTGTACATATATGTG TGTATATATGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	264	0.0038	216	c.19 others(227): Show c.1910_*1911insGTATATACATATATACACACATATATGTACACAT ATATGTGTGTATATACATACATACACATATATGTACACATATACGTGTGT ATATACATATATACACATATATGTACACATATACGTGTGTATATACATAT ATACACATATATGTACACATATACGTGTGTATATACGTATATACACATAT ATGTACACATATATGTGTGTATATACGTATAT	CXorf51A	ENSG00000224440.2	transcript	ENST00000458472.2	protein_coding		1809		chrX	TogoVar
CXorf51B_chrX_146804771_146815411	146812296	T T	TATATACG others(209): Show TATATACGTATATACACACATATATGTGTACATATATGTGTATATACGTA TATACACACGTATATGTGTACATATATGTGTATATATGTATATACACACG TATATGTGTACATATATGTGTATATATGTATATACACACGTATATGTGTA CATATATGTGTATGTATGTATATACACACATATATGTGTACATATATGTG TGTATATATGTATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	272	0.0037	216	c.19 others(227): Show c.1988_*1989insATATACGTATATACACACATATATGTGTACATAT ATGTGTATATACGTATATACACACGTATATGTGTACATATATGTGTATAT ATGTATATACACACGTATATGTGTACATATATGTGTATATATGTATATAC ACACGTATATGTGTACATATATGTGTATGTATGTATATACACACATATAT GTGTACATATATGTGTGTATATATGTATATAC	CXorf51B	ENSG00000235699.3	transcript	ENST00000438525.3	protein_coding		1886		chrX	TogoVar
DDR2_chr1_162627464_162792405	162727099	A A	AAAATATA others(209): Show AAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTTATAT TTTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATATATTT ATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAAACATAT ATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAAAC ATATATTTATATTTTGT	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	302	0.0033	216	c.82+ others(231): Show c.82+8125_82+8126insCATATATTTATATTTTGTAAATATAAACAT ATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAATATAA ACATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGTAAAT ATAAACATATATTTATATTTTGTAAATATAAACATATATTTATATTTTGT AAATATAAACATATATTTATATTTTGTAAATATAAA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DDR2_chr1_162627464_162792405	162727242	A A	AACATATA others(209): Show AACATATATTTATATTTTGTAAATATAGACATATATTTATATTTTGTAAA TATAGACATATATTTATATTTTGTAAATATAGACATATATTTATATTTTG TAAATATAGACATATATTTATATTTTGTAAATATAGACATATATTTATAT TTTGTAAATATAGACATATATTTATATTTTGTAAATATAGACATATATTT ATATTTTGTAAATATAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02717.hp2 HG03225.hp1 others(3): Show HG01891.hp2 HG02717.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0045	a0001c0001t0002g0126 a0001c0001t0002g0271 a0001c0001t0004g0106 others(3): Show a0001c0001t0002g0126 a0001c0001t0002g0271 a0001c0001t0004g0106 a0001c0001t0004g0115 a0001c0001t0012g0113 a0001c0001t0045g0297	6	302	0.0199	216	c.82+ others(231): Show c.82+8123_82+8124insGACATATATTTATATTTTGTAAATATAGAC ATATATTTATATTTTGTAAATATAGACATATATTTATATTTTGTAAATAT AGACATATATTTATATTTTGTAAATATAGACATATATTTATATTTTGTAA ATATAGACATATATTTATATTTTGTAAATATAGACATATATTTATATTTT GTAAATATAGACATATATTTATATTTTGTAAATATA	DDR2	ENSG00000162733.19	transcript	ENST00000367921.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
DGKI_chr7_137376037_137851974	137472306	G G	GTATATAC others(209): Show GTATATACATATAATATAATATGTATATACATATAATAATTATATGTATA TACATTAAATATTATATGTATATATACATATAATTATTATATGTATATAT ACATATAATTATATGTATATATACATATAATTATTATATGTATATATACA TATAATTATTATATGTATATATACATATAATTATTATATGTATATATACA TATAATTATTATATGTA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0029 a0001c0005t0029	a0001c0005t0029g0062 a0001c0005t0029g0062	1	94	0.0106	216	c.237 others(235): Show c.2374-2688_2374-2687insTACATATAATAATTATATGTATATAT ACATATAATAATTATATGTATATATACATATAATAATTATATGTATATAT ACATATAATAATTATATGTATATATACATATAATTATATGTATATATACA TATAATAATTATATGTATATATACATATAATATTTAATGTATATACATAT AATTATTATATGTATATACATATTATATTATATGTATATA	DGKI	ENSG00000157680.17	transcript	ENST00000614521.2	protein_coding	23/32			chr7	TogoVar
DHRSX_chrX_2214506_2505976	2314317	A A	AGGGAGGG others(209): Show AGGGAGGGAAGGAGGGAAGGGAGGGAGGGAGGGAGGGGAGAGGAGGGAGG AGGGGAGGGAGGGAGGGAAGGAGGGAGGAGGGAGGGAGGGAGGGAGGGAA GGAGGAGGAGGGAGGGAAGGAGGGAAGGAGGGAGGAGGAGGGGGGAGGGA GGGAGGGAAGGAGGGAGGGAGGGAGGGAAGGAGGGAAGGAGGGAGGGAGG GGAAAGGAGGGAGGGAG	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0043 a0003c0003t0002g0043	1	50	0.0200	216	c.287 others(235): Show c.287-22715_287-22714insCTCCCTCCCTCCTTTCCCCTCCCTCC CTCCTTCCCTCCTTCCCTCCCTCCCTCCCTCCTTCCCTCCCTCCCTCCCC CCTCCTCCTCCCTCCTTCCCTCCTTCCCTCCCTCCTCCTCCTTCCCTCCC TCCCTCCCTCCCTCCTCCCTCCTTCCCTCCCTCCCTCCCCTCCTCCCTCC TCTCCCCTCCCTCCCTCCCTCCCTTCCCTCCTTCCCTCCC	DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	3/6			chrX	TogoVar
DIAPH2_chrX_96679842_97609997	97176510	T T	TTTTGTTT others(209): Show TTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTCTCTTATGCCCTTTTTAA AAAGCATGTATTATACTATAGAAATGTTTCCTATTAGTGATTAATGTGAT AAATTTGATTAGTTGAATAAAAGCAAACTTTGATTCTAGATTTTATCTAT TTCTTGGTATCCGGCACTGTCAAATACAGTTGTCCCTCAGTATCCATGAA GGATTGGTGTTTTTTTG	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0106 a0001c0001t0005g0106	1	147	0.0068	216	c.271 others(237): Show c.2719+34747_2719+34748insCTCTTATGCCCTTTTTAAAAAGCA TGTATTATACTATAGAAATGTTTCCTATTAGTGATTAATGTGATAAATTT GATTAGTTGAATAAAAGCAAACTTTGATTCTAGATTTTATCTATTTCTTG GTATCCGGCACTGTCAAATACAGTTGTCCCTCAGTATCCATGAAGGATTG GTGTTTTTTTGTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	DIAPH2	ENSG00000147202.19	transcript	ENST00000324765.13	protein_coding	22/26		INFO_REALIGN_3_PRIME	chrX	TogoVar
DIAPH3_chr13_59660583_60168928	59858226	T T	TAAAAAAG others(209): Show TAAAAAAGCAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAG TCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAG CGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18969.hp1 HG01978.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0033 a0001c0001t0002g0035	2	208	0.0096	216	c.273 others(235): Show c.2737+3180_2737+3181insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTGCTTTTTT	DIAPH3	ENSG00000139734.19	transcript	ENST00000400324.9	protein_coding	22/27			chr13	TogoVar
DIP2C_chr10_269201_694668	371673	G G	GCAGCACC others(209): Show GCAGCACCCGAGGGAGGCTGGGGTGAGGCCTGGGCTGAGCTGAGCAGCAC CCGAGGGAGGCTGGGGTGAGGCCTGGGCTGAGCAGAGCAGCACCCGAGGG AGGCTGGGGTGAGGCCTGGGGTGGATCACTGAGCAGCACCCGAGGGAGGC TGGGGTGAGGCCTGGGCTGAGCAGAGCAGCACCCGAGGGAGGCTGGGGTG AGGCCTGGGGTGGATCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0009 a0001c0017t0009	a0001c0017t0009g0073 a0001c0017t0009g0073	1	88	0.0114	216	c.199 others(235): Show c.1992-2041_1992-2040insTGATCCACCCCAGGCCTCACCCCAGC CTCCCTCGGGTGCTGCTCTGCTCAGCCCAGGCCTCACCCCAGCCTCCCTC GGGTGCTGCTCAGTGATCCACCCCAGGCCTCACCCCAGCCTCCCTCGGGT GCTGCTCTGCTCAGCCCAGGCCTCACCCCAGCCTCCCTCGGGTGCTGCTC AGCTCAGCCCAGGCCTCACCCCAGCCTCCCTCGGGTGCTG	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	17/36			chr10	TogoVar
DIP2C_chr10_269201_694668	516817	C C	CACGGGGT others(209): Show CACGGGGTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGGACACGGG GTAGGGTGGGGGGGGACACGGGGTAGGGTGGGGGGGACAGGGGGTAGGGT GGGGGGGGACAGGGGGTAGGGTGGGGGGGGGACAGGGGGTAGGGTGGGGG GGGACAGGGGGTAGGGTGGGGGGGACAGGGGGTAGGGTGGGGGGGACAGG GGGTAGGGTGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0040 a0001c0003t0002g0040	1	88	0.0114	216	c.86- others(233): Show c.86-30288_86-30287insCCCCCCCCACCCTACCCCCTGTCCCCCC CACCCTACCCCCTGTCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTA CCCCCTGTCCCCCCCCCACCCTACCCCCTGTCCCCCCCCACCCTACCCCC TGTCCCCCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCGTGTCCCC CCCCACCCTACCCCGTGTCCCCCCCCACCCTACCCCGT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36			chr10	TogoVar
DLGAP2_chr8_732628_1713476	759057	A A	ACCTTCCC others(209): Show ACCTTCCCATTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCT GACAGCTTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATAC CCCCCACAGCCTTCCCGTTATCAATACCCCCGACAGCCTTCCCATTATCA ATACCCCCCACAGCCTTCCTGTTACCAATACCCGCAACAGCCTCCCTGTT GTCAATACCCCCGACAG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0021 a0001c0002t0002g0021	1	40	0.0250	216	c.18+ others(233): Show c.18+21254_18+21255insGACAGCCTTCCCATTATCAATACCCCTG ACAGCTTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATACC CCCCACAGCCTTCCCGTTATCAATACCCCCGACAGCCTTCCCATTATCAA TACCCCCCACAGCCTTCCTGTTACCAATACCCGCAACAGCCTCCCTGTTG TCAATACCCCCGACAGCCTTCCCATTATCAATACCCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	759057	A A	ACCTTCCC others(209): Show ACCTTCCCATTATCAATACCCCCGACAGCCTTCCCATTATCAATACCCCT GACAGCTTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATAC CCCCCACAGCCTTCCCGTTATCAATACCCCCGACAGCCTTCCCATTATCA ATACCCCCCACAGCCTTCCTGTTATCAATACCCCCCACAACCTTCCCATT ATCAATACCCCTGACAG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0024 a0001c0003t0024	a0001c0003t0024g0003 a0001c0003t0024g0003	1	40	0.0250	216	c.18+ others(233): Show c.18+21254_18+21255insGACAGCCTTCCCATTATCAATACCCCTG ACAGCTTTCCCATTATCAATACCCCCCACAACCTTCCCATTATCAATACC CCCCACAGCCTTCCCGTTATCAATACCCCCGACAGCCTTCCCATTATCAA TACCCCCCACAGCCTTCCTGTTATCAATACCCCCCACAACCTTCCCATTA TCAATACCCCTGACAGCCTTCCCATTATCAATACCCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991282	G G	GACCCCCT others(209): Show GACCCCCTCCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTG CCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTC CTTGCCCACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTC CCTCCTTGCCCAGACCCCCTCCACCCCCATACTCGGAGTTCCTGTTCTTC TCTCCCTCCTTGCCCAC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0021 a0002c0009t0021	a0002c0009t0021g0014 a0002c0009t0021g0014	1	40	0.0250	216	c.73+ others(233): Show c.73+83323_73+83324insCCACCCCCATACTCGGAGTTCCTGTTCT TCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTG TTCTTCTCTCCCTCCTTGCCCACACCCCCTGCACCCCCATACTCGGAGTT CCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTCCACCCCCATACTCGG AGTTCCTGTTCTTCTCTCCCTCCTTGCCCACACCCCCT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	991713	A A	AGACCCCC others(209): Show AGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTT GCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCT CCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCTCCTTGCCCACACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCTCCTTGCCCG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0035 a0002c0001t0005g0035	1	40	0.0250	216	c.73+ others(233): Show c.73+83845_73+83846insTCCTTGCCCGGACCCCCTGCACCCCCAT ACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCACACCCCCTGCACCC CCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCGGACCCCCTGC ACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCCGGACCCC CTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	992253	A A	GGACCCCC others(209): Show GGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCCCCTT GCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCT CCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCTCCTTGCCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0005 a0002c0001t0005	a0002c0001t0005g0028 a0002c0001t0005g0028	1	40	0.0250	216	c.73+ others(233): Show c.73+84286_73+84287insGGACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCCCCTTGCCCGGACCCCCTGCACCCCCATACTCG GAGTTCCTGTTCTTCTCTCCCTCCTTGCCCGGACCCCCTGCACCCCCATA CTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCAGACCCCCTGCACCCC CATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	993117	A A	GGACCCCC others(209): Show GGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTT GCCCAGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCTCCCA CCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTTCTCT CCCACCTTGCCCGGACCCCCTGCACCCCCATACTCGGAGTTCCTGTTCTT CTCTCCCTCCTTGCCCA	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0026 a0002c0004t0026	a0002c0004t0026g0016 a0002c0004t0026g0016	1	40	0.0250	216	c.73+ others(233): Show c.73+85150_73+85151insGGACCCCCTGCACCCCCATACTCGGAGT TCCTGTTCTTCTCTCCCTCCTTGCCCAGACCCCCTGCACCCCCATACTCG GAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCCCATA CTCGGAGTTCCTGTTCTTCTCTCCCACCTTGCCCGGACCCCCTGCACCCC CATACTCGGAGTTCCTGTTCTTCTCTCCCTCCTTGCCC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14			chr8	TogoVar
DLGAP2_chr8_732628_1713476	1060291	C C	CCCCTCCC others(209): Show CCCCTCCCAAGGCGGGCTCCCTCTGGAGGCCCTGAGGGCGTTGGTCCCTC CGCTGAGTGCTTGTGGATAGATACCCTCCCAAGGCGGGCTCCCTCTGGAG GCCCTGAGGGCTTTGGTCCCTCCGCTGTGTCCTTGTGGATAGATCCCCTC CCAAGGCGGGCTCCCTCTGGAGGCCCTGAGGGCGTTGGTCCCTCCGCTGA GTGCTTGTGGATAGATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02922.hp2 HG02976.hp2 others(3): Show HG02818.hp1 HG02922.hp2 HG02976.hp2 HG03516.hp1 NA18906.hp1 NA20300.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0001c0003 a0002c0001 others(2): Show a0001c0002 a0001c0003 a0002c0001 a0003c0008 a0006c0011	a0001c0002t0001 a0001c0002t0027 a0001c0003t0013 others(3): Show a0001c0002t0001 a0001c0002t0027 a0001c0003t0013 a0002c0001t0019 a0003c0008t0015 a0006c0011t0016	a0001c0002t0001g0015 a0001c0002t0027g0023 a0001c0003t0013g0007 others(3): Show a0001c0002t0001g0015 a0001c0002t0027g0023 a0001c0003t0013g0007 a0002c0001t0019g0030 a0003c0008t0015g0002 a0006c0011t0016g0029	6	40	0.1500	216	c.73+ others(235): Show c.73+152435_73+152436insTTTGGTCCCTCCGCTGTGTCCTTGTG GATAGATCCCCTCCCAAGGCGGGCTCCCTCTGGAGGCCCTGAGGGCGTTG GTCCCTCCGCTGAGTGCTTGTGGATAGATACCCTCCCAAGGCGGGCTCCC TCTGGAGGCCCTGAGGGCGTTGGTCCCTCCGCTGAGTGCTTGTGGATAGA TACCCTCCCAAGGCGGGCTCCCTCTGGAGGCCCTGAGGGC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1344128	G G	GTGGGTCC others(209): Show GTGGGTCCGTGTACTCGGGGCCCTGTCGTAAGTCCGTGTACTGGGTGCCC TGTCGTGGGTCCGTGTACTGTGGGCCCTGTCGTGGGTCCATGTATTCGGG GCCCTGTCGTGGGTCCGTGTACTCGGGGCCCTGTCGTAAGTCCGTGTACT CGGGGCCCTGTCGTGGGTCCGTGTACTGTGGGCCCTGTCGTGGGTCCGTG TACTTGGGGCCCTGTCC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG03516.hp1 HG02818.hp2 HG03516.hp1	a0002 a0003 a0002 a0003	a0002c0009 a0003c0008 a0002c0009 a0003c0008	a0002c0009t0021 a0003c0008t0015 a0002c0009t0021 a0003c0008t0015	a0002c0009t0021g0014 a0003c0008t0015g0002 a0002c0009t0021g0014 a0003c0008t0015g0002	2	40	0.0500	216	c.106 others(235): Show c.106+85273_106+85274insAAGTCCGTGTACTGGGTGCCCTGTCG TGGGTCCGTGTACTGTGGGCCCTGTCGTGGGTCCATGTATTCGGGGCCCT GTCGTGGGTCCGTGTACTCGGGGCCCTGTCGTAAGTCCGTGTACTCGGGG CCCTGTCGTGGGTCCGTGTACTGTGGGCCCTGTCGTGGGTCCGTGTACTT GGGGCCCTGTCCTGGGTCCGTGTACTCGGGGCCCTGTCGT	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1344144	G G	GGGGCCCT others(209): Show GGGGCCCTGTCGTGGGTCCGTGTACTCGGGGCCCTGTCGTAAGTCCGTGT ACTGGGTGCCCTGTCGTGAGTCCGTGTACTGTGGGCCCTGTCGTGGGTCC GTGTACTCGGGGCCCTGTCGTAAGTCCGTGTACTGGGTGCCCTGTCGTGG GTCCGTGTACTGTGGGCCCTGTCGTGGGTCCGTGTACTTGGGGCCCTGTC CTGGGTCCGTGTACTCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02647.hp2 HG02258.hp1 HG02647.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0005 a0002c0001t0002 a0002c0001t0005	a0002c0001t0002g0013 a0002c0001t0005g0028 a0002c0001t0002g0013 a0002c0001t0005g0028	2	40	0.0500	216	c.106 others(235): Show c.106+85278_106+85279insCGTGTACTCGGGGCCCTGTCGTAAGT CCGTGTACTGGGTGCCCTGTCGTGAGTCCGTGTACTGTGGGCCCTGTCGT GGGTCCGTGTACTCGGGGCCCTGTCGTAAGTCCGTGTACTGGGTGCCCTG TCGTGGGTCCGTGTACTGTGGGCCCTGTCGTGGGTCCGTGTACTTGGGGC CCTGTCCTGGGTCCGTGTACTCAGGGCCCTGTCGTGGGTC	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DLGAP2_chr8_732628_1713476	1375109	C C	CCTACATT others(209): Show CCTACATTTGGGTTAACGACATCTCTCCACGGCCTCAGAACTGAGCCCCC ACCTCCTACATTTGGGTTAACGACATCTCTCCACGGCCTCAGAACTGAGC CCCCACCTCCTACATTTGGGTTAACGACATCTCTCCACGGCCTCAGAACT GAGCCTCCACCTCCTACATTTGGGTTAACGACACCTCTCCACGACCTCAG AACTGATCCCCCACCTA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02976.hp1 HG02922.hp2 HG02976.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0019 a0002c0001t0002 a0002c0001t0019	a0002c0001t0002g0032 a0002c0001t0019g0030 a0002c0001t0002g0032 a0002c0001t0019g0030	2	40	0.0500	216	c.106 others(237): Show c.106+116246_106+116247insTCTCTCCACGGCCTCAGAACTGAG CCCCCACCTCCTACATTTGGGTTAACGACATCTCTCCACGGCCTCAGAAC TGAGCCCCCACCTCCTACATTTGGGTTAACGACATCTCTCCACGGCCTCA GAACTGAGCCTCCACCTCCTACATTTGGGTTAACGACACCTCTCCACGAC CTCAGAACTGATCCCCCACCTACTACATTTGGGTTAACGACA	DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr8	TogoVar
DNAH10_chr12_123757301_123940714	123912033	T T	TGGGGGGG others(209): Show TGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGGTCTGTCCTG GGGGGGTCTGTCCTGGGGGGGGTCTGTCCCGGGGGGTCTGTCCCGGGGGG GTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTG TCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTG GGGGGGGGTCTGTCCTG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0006 a0006	a0006c0027 a0006c0027	a0006c0027t0001 a0006c0027t0001	a0006c0027t0001g0145 a0006c0027t0001g0145	1	170	0.0059	216	c.101 others(237): Show c.10135-1058_10135-1057insGTCTGTCCTGGGGGGTCTGTCCTG GGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCCGG GGGGTCTGTCCCGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGT CTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGT CCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTCCTGGGGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH10_chr12_123757301_123940714	123912143	G G	GGGGGTCT others(209): Show GGGGGTCTGTCCCGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG GTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGTCT GTCCTGGGGGGGGTCTGTCCTGGGGGGTCTGTCCTGGGGGGGGGTCTGTC CTGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGGTCTGTCC TGGGGGGGGTCTGTCCT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0029 a0029	a0029c0070 a0029c0070	a0029c0070t0001 a0029c0070t0001	a0029c0070t0001g0152 a0029c0070t0001g0152	1	170	0.0059	216	c.101 others(235): Show c.10135-951_10135-950insTCTGTCCCGGGGGGGTCTGTCCTGGG GGGGGTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGG GTCTGTCCTGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGTCTG TCCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGGGGGGTCTGT CCTGGGGGGGGGTCTGTCCTGGGGGGGGTCTGTCCTGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174371	G G	GATATATA others(209): Show GATATATATATGATATATATATCCCATATATATGATATATATATGATATA TATATGATATATATATCCCATATATATGATATATATATGATATATATGAT ATATATGGGATATATATATCATATATATATCATATATATGGGATATATAT ATCATATATATCATATATATGGGATATATATATCATATATATCATATATA TGGGATATATATATCAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp1 HG01074.hp2 others(33): Show HG00673.hp2 HG00733.hp1 HG01074.hp2 HG01168.hp1 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01943.hp1 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02074.hp2 HG02155.hp1 HG02293.hp1 HG02300.hp2 HG02630.hp2 HG03688.hp2 HG04115.hp2 NA18940.hp1 NA18957.hp1 NA18964.hp1 NA18994.hp1 NA19002.hp1 NA19009.hp1 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19077.hp1 NA19080.hp1 NA19081.hp2 NA19087.hp2 NA19088.hp1 NA19091.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 others(33): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0109 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0191	36	336	0.1071	216	c.22- others(233): Show c.22-13175_22-13174insATGATATATATATCCCATATATATGATA TATATGATATATATATCCCATATATATGATATATATGATATATATATCCC ATATATATGATATATATATGATATATATATCCCATATATATCATATATAT CATATATATATCATATATATGGGATATATATATCATATATATATCATATA TATATCATATATATGGGATATATATATCATATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DOCK8_chr9_209865_470255	399997	T T	TCCACCAC others(209): Show TCCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCAGCAC TTCCACCATCACCATCACCACCTCCACCATCACCACCACCTCCACCATCA CCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACC TCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACCACCAC CAGCATCTTCACCATCA	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0109 a0002c0005t0001g0109	1	256	0.0039	216	c.323 others(233): Show c.3234+783_3234+784insGCACTTCCACCATCACCATCACCACCTC CACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCA CCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCTCCACCACCACCAGCATCTTCACCATCACCACCAC CTCCACCATCACCACCACCTCCACCATCACCACCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400217	T T	TCACCACC others(209): Show TCACCACCACCTCCACCATCACCACCTCCTCCATCACCACCGCCTTCTCC ACCATCACCACCTCCTCCATCACCACCACCTTCTCCACCATCACCACCAC CTCCACCATCACCACCTCCTCCATCACCACCACCATCACCACCACCTCCA CCATCACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACC ACCACCTCCACCATCAC	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0037 a0037	a0037c0038 a0037c0038	a0037c0038t0001 a0037c0038t0001	a0037c0038t0001g0026 a0037c0038t0001g0026	1	256	0.0039	216	c.323 others(233): Show c.3234+983_3234+984insTCCTCCATCACCACCGCCTTCTCCACCA TCACCACCTCCTCCATCACCACCACCTTCTCCACCATCACCACCACCTCC ACCATCACCACCTCCTCCATCACCACCACCATCACCACCACCTCCACCAT CACCACCACCACCTCCACCATCACCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCACCACCTCCACCATCACCACC	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400382	T T	TCACCATC others(209): Show TCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACC AGCATCTTCACCATCACCACCACCTCCACCATCACCACCACCACCACCTC CACCATCACCACCTCCTTCACCATCACCATCACCACCACCTCCACCATCA CCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCC ACCATCACCACCACCTC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01433.hp2 HG01192.hp1 HG01433.hp2	a0006 a0018 a0006 a0018	a0006c0028 a0018c0144 a0006c0028 a0018c0144	a0006c0028t0001 a0018c0144t0001 a0006c0028t0001 a0018c0144t0001	a0006c0028t0001g0211 a0018c0144t0001g0166 a0006c0028t0001g0211 a0018c0144t0001g0166	2	256	0.0078	216	c.323 others(235): Show c.3234+1167_3234+1168insCCACCAGCATCTTCACCATCACCACC ACCTCCACCATCACCACCACCACCACCTCCACCATCACCACCTCCTTCAC CATCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCACCA CCACCTCCACCATCACCACCACCACCTCCACCATCACCACCACCTCCACC ATCACCACCACCTCCACCATCACCACCACCACCTCCACCA	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47		INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400667	A A	ACCTCCAC others(209): Show ACCTCCACCACCAGCACTTCCACCATCACCACCTCCACCACCTCCACCAC CACCGTCACCACCTTCTCCACCACCACCATCTTCACCACCACCACCATCG CCCTGCCCACCTCTAGCAATATTATCACCTTTCCTATCACCTCCAATATC ACTACCTCCTCCACCATCACCACCATCACCTCCACCACCACCACCTCCTC CACCATCACCACCTCCT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0132 a0003c0001t0001g0132	1	256	0.0039	216	c.323 others(235): Show c.3234+1408_3234+1409insCCTCCACCACCAGCACTTCCACCATC ACCACCTCCACCACCTCCACCACCACCGTCACCACCTTCTCCACCACCAC CATCTTCACCACCACCACCATCGCCCTGCCCACCTCTAGCAATATTATCA CCTTTCCTATCACCTCCAATATCACTACCTCCTCCACCATCACCACCATC ACCTCCACCACCACCACCTCCTCCACCATCACCACCTCCT	DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47			chr9	TogoVar
DOT1L_chr19_2158933_2237578	2200989	G G	GTCCCCTC others(209): Show GTCCCCTCATTCCTCGTCGTCCCCTCATTCCTCGTCCTCCCCGCATTCCT CGTCCTCCCCGCATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCTGCAT TCCTCGTCGTCCCCTCATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCC GCATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCCGTATTCCTCATCCT CCCCGCATTCCTCGTCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0237 a0001c0001t0001g0237	1	378	0.0027	216	c.707 others(233): Show c.707+1067_707+1068insGTCCCCTCATTCCTCGTCCTCCCCGCAT TCCTCGTCCTCCCCGCATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCT GCATTCCTCGTCGTCCCCTCATTCCTCGTCCTCCCCGCATTCCTCGTCCT CCCCGCATTCCTCGTCCTCCCCGCATTCCTCGTCCTCCCCGTATTCCTCA TCCTCCCCGCATTCCTCGTCCTCCCCTCATTCCTCGTC	DOT1L	ENSG00000104885.19	transcript	ENST00000398665.8	protein_coding	8/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
DPEP1_chr16_89608642_89643433	89618921	T T	TCCCTCCC others(209): Show TCCCTCCCTGCAGCCCCCTGCCCCCCCTGCTCCCCTCCCTGCAGCTCCCT GCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCC TGCAGCTCCCTGCCCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCC CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCCCGCTC	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	250	0.0040	216	c.-10 others(235): Show c.-107+5215_-107+5216insCCCCTGCCCCCCCTGCTCCCCTCCCT GCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTG CTCCCCTCCCTGCAGCTCCCTGCCCCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCCCCCCCCGCTCCCCTCCCTGCAGC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DPEP1_chr16_89608642_89643433	89618964	C C	CTCACTGC others(209): Show CTCACTGCCCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCCCTGCTCCCCTCCCTGCAGCTCCC TGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCC TGCAGCTCCCTGCCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCC TGCTCCCCTCCCTGCAG	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	250	0.0040	216	c.-10 others(235): Show c.-107+5245_-107+5246insTCACTGCCCCCCCCCCGCTCCCCTCC CTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCC CTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCT CCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCCCGCTCCC CTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAG	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10			chr16	TogoVar
DPEP1_chr16_89608642_89643433	89619032	G G	GCCCCCCC others(209): Show GCCCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCC CTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCT GCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCC CTGCCCCCCCCCGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCTCCCCT CCCTGCAGCTCCCTGCC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0061 a0002c0002t0003g0061	1	250	0.0040	216	c.-10 others(235): Show c.-107+5319_-107+5320insCCTGCTCCCCTCCCTGCAGCTCCCTG CCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCGCTCCCCTCCCTG CAGCTCCCTGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCTGCT CCCCTCCCTGCAGCTCCCTGCCCCCCCCCGCTCCCCTCCCTGCAGCTCCC TGCCCCCCTGCTCCCCTCCCTGCAGCTCCCTGCCCCCCCC	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
DRC3_chr17_17967862_18021889	18000063	T T	TTGTACTT others(209): Show TTGTACTTTGCTTTCCTGTGTGTGTGTGTGTGTGTGCATAGCATGCCTTG TTCTGTACTTTGCTTTCCTATGTGTGTGTACATGTATGCATAGCATGCCC TGTTCTGTACTTTGCTTTCCTGTGTGTGTGTGTGTGTGTGCATAGCATGC CGTTCTGTACTTTGCTTTCACGTGAGTGTGTGTGTGTGTGTGTGTGTGCG CATAGCATGCCTTGCTC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01099.hp2 HG01069.hp2 HG01071.hp2 HG01099.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0008 a0003c0003t0007g0125 a0003c0003t0007g0008 a0003c0003t0007g0125	3	324	0.0093	216	c.999 others(233): Show c.999+2443_999+2444insCTGTGTGTGTGTGTGTGTGTGCATAGCA TGCCTTGTTCTGTACTTTGCTTTCCTATGTGTGTGTACATGTATGCATAG CATGCCCTGTTCTGTACTTTGCTTTCCTGTGTGTGTGTGTGTGTGTGCAT AGCATGCCGTTCTGTACTTTGCTTTCACGTGAGTGTGTGTGTGTGTGTGT GTGTGCGCATAGCATGCCTTGCTCTGTACTTTGCTTTC	DRC3	ENSG00000171962.19	transcript	ENST00000399187.6	protein_coding	9/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DYM_chr18_49031387_49465645	49440554	A A	ATGACTAT others(209): Show ATGACTATATATTATATATATAATATATGACTATATATTATATATATATA ACATATGACTATATATTATATATATATAACATATGACTATATATTATATA TATATAACATATGACTATATATTATATATATATAACATATGACTATATAT TATATATATATAACATATGACTATATATTATATATTTATATAATATATGA CTATATATTATATATTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0148 a0001c0001t0036g0148	1	290	0.0035	216	c.-53 others(235): Show c.-53-10108_-53-10107insAAATATATAATATATAGTCATATATT ATATAAATATATAATATATAGTCATATGTTATATATATATAATATATAGT CATATGTTATATATATATAATATATAGTCATATGTTATATATATATAATA TATAGTCATATGTTATATATATATAATATATAGTCATATGTTATATATAT ATAATATATAGTCATATATTATATATATAATATATAGTCA	DYM	ENSG00000141627.14	transcript	ENST00000675505.1	protein_coding	1/17			chr18	TogoVar
EHMT1_chr9_137614005_137841127	137785366	C C	CGCTGAGC others(209): Show CGCTGAGCCTGTGAGGGTGGGGTGCGCTGAGCCCGTGAGGGTGGGCCGTG CTGAGCCCCTGAGGGTGGGGTGCGCTGAGCCCATGAGGGTGGGCCGTGCT GAGCCCCTGAGGGTGGGGTGTGCTGAGCCCGTGAGGGTGGGCCGTGCTGA GCCCCTGAGGGTGGGGTGTGCTGAGCCCCTGAGGGTGGGGTGTGCTGAGC CCGTGAGGGTGGGCCGT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp2 HG02055.hp2 others(15): Show HG01884.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp1 HG02630.hp1 HG02717.hp2 HG02886.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03579.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0009 a0001c0003 a0001c0009	a0001c0003t0001 a0001c0009t0001 a0001c0003t0001 a0001c0009t0001	a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 others(15): Show a0001c0003t0001g0001 a0001c0003t0001g0057 a0001c0003t0001g0058 a0001c0003t0001g0059 a0001c0003t0001g0060 a0001c0003t0001g0067 a0001c0003t0001g0078 a0001c0003t0001g0084 a0001c0003t0001g0088 a0001c0003t0001g0095 a0001c0003t0001g0102 a0001c0003t0001g0105 a0001c0003t0001g0121 a0001c0003t0001g0129 a0001c0003t0001g0130 a0001c0009t0001g0061 a0001c0009t0001g0142 a0001c0009t0001g0170	18	170	0.1059	216	c.238 others(235): Show c.2382+2977_2382+2978insTGTGAGGGTGGGGTGCGCTGAGCCCG TGAGGGTGGGCCGTGCTGAGCCCCTGAGGGTGGGGTGCGCTGAGCCCATG AGGGTGGGCCGTGCTGAGCCCCTGAGGGTGGGGTGTGCTGAGCCCGTGAG GGTGGGCCGTGCTGAGCCCCTGAGGGTGGGGTGTGCTGAGCCCCTGAGGG TGGGGTGTGCTGAGCCCGTGAGGGTGGGCCGTGCTGAGCC	EHMT1	ENSG00000181090.21	transcript	ENST00000460843.6	protein_coding	15/26		INFO_REALIGN_3_PRIME	chr9	TogoVar
EIPR1_chr2_3183970_3382818	3221310	A A	ACACTCAC others(209): Show ACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAACACTCACAGTGAGTCGGGAACACACGCACACAATGGC CGAGGTACACTCTAGAG	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	250	0.0040	216	c.417 others(233): Show c.417-7063_417-7062insCTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCCGACTCACTGTGAGTGTTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGTTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGTTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221688	G G	GCACTCAC others(209): Show GCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTC TAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTAC ACTCTAGAGCACTCACAGTGAGTCGGGAACACACGCACACAATGGCCGAG GTACACTCTAGAGCACTCACAGTGAGTCCGGAACACACGCACACAATGGC CGAGGTACACTCTAGAA	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	250	0.0040	216	c.417 others(233): Show c.417-7441_417-7440insTTCTAGAGTGTACCTCGGCCATTGTGTG CGTGTGTTCCGGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCCATTG TGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTCGGCC ATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAGTGTACCTC GGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3221758	G G	GGGAACAC others(209): Show GGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCACAGTG AGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCACTCAC AGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGAGCAC TCACAGTGAGTCGGGAACACACGCACACAATGGCCGAGGTACACTCTAGA GCACTCACAGTGAGTCC	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0051 a0001c0001t0001g0051	1	250	0.0040	216	c.417 others(233): Show c.417-7511_417-7510insGGACTCACTGTGAGTGCTCTAGAGTGTA CCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCTAGAG TGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTGCTCT AGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCCCGACTCACTGTGAGTG CTCTAGAGTGTACCTCGGCCATTGTGTGCGTGTGTTCC	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	4/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3316070	T T	TCACCACC others(209): Show TCACCACCATCCCCATACACACCCCCTACCACCATCCTCACCACCATCCC CATCCACACCCCCTACCACCACCATCACCACCATCCCCATACACACCCCC TACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATC ACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCA TACACACCCCCTACCAC	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA19005.hp2 NA18945.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0058 a0001c0001t0001g0053 a0001c0001t0001g0058	2	250	0.0080	216	c.259 others(235): Show c.259+21946_259+21947insGTGGTAGGGGGTGTGTATGGGGATGG TGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG TATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTG GTGAGGATGGTGGTAGGGGGTGTGTATGGGGATGGTGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EML1_chr14_99788413_99947060	99928221	G G	GTGGAGGT others(209): Show GTGGAGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGAT GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGGTGATGGTGGTGGGGGTGGGGGTGGGGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0015 a0003c0015	a0003c0015t0001 a0003c0015t0001	a0003c0015t0001g0013 a0003c0015t0001g0013	1	288	0.0035	216	c.190 others(235): Show c.1909+7347_1909+7348insAGGTGGTGATGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGGGGTGGGGGTGGGGG TGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATG GTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGATGG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EP400_chr12_131944942_132085460	131998636	T T	TCTTTGTA others(209): Show TCTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATAC AAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGT ATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTC TTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATAC AGTCTTGTATACAAAGA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03130.hp1 NA18522.hp1 others(1): Show HG02109.hp2 HG03130.hp1 NA18522.hp1 NA19043.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0071 a0002c0001 a0005c0007 a0001c0071 a0002c0001 a0005c0007	a0001c0071t0002 a0002c0001t0003 a0005c0007t0003 a0001c0071t0002 a0002c0001t0003 a0005c0007t0003	a0001c0071t0002g0061 a0002c0001t0003g0133 a0005c0007t0003g0134 others(1): Show a0001c0071t0002g0061 a0002c0001t0003g0133 a0005c0007t0003g0134 a0005c0007t0003g0135	4	208	0.0192	216	c.282 others(235): Show c.2827+3734_2827+3949dupACTTTGTATACAGTCTTGTATACAAA GACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTGTATA CAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGTCTTG TATACAAAGACTTTGTATACAGTCTTGTATACAAAGACTTTGTATACAGT CTTGTATACAAAGACTTTGTATACAGTCTTGTATACAAAG	EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	12/52		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERO1B_chr1_236210101_236286958	236245498	A A	ATATATAT others(209): Show ATATATATACGTATATATATACACACGTATATATATACGTATATATATAC ACACGTATATATATACGTATATATATACACACGTATATATATACGTATAT ATATACACACGTATATATATACGTATATATATACACACGTATATATATGT ATATATATACACGTATATATATATGTATATATATATACACGTATATATAT ATGTATATATATACACG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0293 a0001c0001t0003g0293	1	396	0.0025	216	c.432 others(233): Show c.432-2004_432-2003insCGTGTATATATATACATATATATATACG TGTATATATATATACATATATATATACGTGTATATATATACATATATATA CGTGTGTATATATATACGTATATATATACGTGTGTATATATATACGTATA TATATACGTGTGTATATATATACGTATATATATACGTGTGTATATATATA CGTATATATATACGTGTGTATATATATACGTATATATA	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	5/15			chr1	TogoVar
EVPLL_chr17_18372778_18394647	18388034	A A	ATATATAC others(209): Show ATATATACACATATATATATATGTATATATATATATACACATATATACAC ATACATATGTATATATACACATATGTATATATATACATACGTATGTATGT ATATACATACGTATGTATATACATACATACGTATGTGTATACATACATAC GTATGTGTATACATACATACGTATGTGTATACATACATATGTATGTGTAT ATATACATATGTATGTG	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0019 a0004c0007t0019	a0004c0007t0019g0071 a0004c0007t0019g0071	1	408	0.0025	216	c.877 others(231): Show c.877-179_877-178insCACATATATATATATGTATATATATATATA CACATATATACACATACATATGTATATATACACATATGTATATATATACA TACGTATGTATGTATATACATACGTATGTATATACATACATACGTATGTG TATACATACATACGTATGTGTATACATACATACGTATGTGTATACATACA TATGTATGTGTATATATACATATGTATGTGTATATA	EVPLL	ENSG00000214860.5	transcript	ENST00000399134.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
EXD3_chr9_137301896_137428162	137322959	C C	CTCTGCCG others(209): Show CTCTGCCGACACCCCACCCCGGACCCACGAGGGGTGCTCTGCCGACACCC CACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCCGGACCCAC GAGGGGTGATCTGCCGACACCCCACCCCGGACCCACGAGGGGTGATCTGC CGACACCCCACCCCGGACCCACGAGGGGTGATCTGCCGACACCCCACCCC GGACCCACGAGGGGTGA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00741.hp1 others(8): Show HG00099.hp2 HG00280.hp2 HG00741.hp1 HG01993.hp2 HG02004.hp1 HG02976.hp1 HG03017.hp1 HG03139.hp1 NA18951.hp2 NA19007.hp1 NA19066.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0020 a0026	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0020c0034 a0026c0013	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0020c0034t0001 a0026c0013t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0002c0002t0001g0030 others(8): Show a0001c0001t0001g0042 a0001c0001t0001g0044 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0056 a0002c0002t0001g0076 a0003c0003t0001g0025 a0003c0003t0001g0037 a0003c0003t0001g0068 a0020c0034t0001g0017 a0026c0013t0001g0074	11	82	0.1342	216	c.218 others(233): Show c.2184+765_2184+766insTCACCCCTCGTGGGTCCGGGGTGGGGTG TCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCC CTCGTGGGTCCGGGGTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGG GTGGGGTGTCGGCAGATCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCA GAGCACCCCTCGTGGGTCCGGGGTGGGGTGTCGGCAGA	EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21			chr9	TogoVar

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