Joint Open Genome and Omics Platform (JoGo)

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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

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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
METTL26_chr16_629430_641305	631727	ACTTCTCC others(153): Show ACTTCTCCCACCCCTTCACTGCCTCTCCTTCCATCCTCTCCTCCCACCCT CTCCTCCCATCCACTCCTCCCATCCACTTCTTCCATCCTCTTCTCCCACC CCGTCACTGCCTCTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCACT TCTTCCATCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(81): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00738.hp2 HG01081.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01169.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp2 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02602.hp1 HG02615.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02886.hp1 HG02895.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp1 NA18940.hp2 NA18953.hp2 NA18956.hp1 NA18963.hp2 NA18967.hp1 NA18974.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18986.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19059.hp2 NA19082.hp1 NA19087.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0009 a0001c0001 a0001c0005 a0003c0009	a0001c0001t0001 a0001c0005t0001 a0003c0009t0001 a0001c0001t0001 a0001c0005t0001 a0003c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(10): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0005t0001g0017 a0003c0009t0001g0028	84	404	0.2079	-160	c.27 others(11): Show c.2710_*2869del	METTL26	ENSG00000130731.16	transcript	ENST00000301686.13	protein_coding		2702		chr16	TogoVar
MLPH_chr2_237482251_237560322	237544524	GGGGGGAC others(153): Show GGGGGGACAGTTGTTGAGTTGGGGGACACTTTAGTGTTGGGGGGGACATT GTTTATTGGGGGCATAGTGGTGTGTGGTTGTCAGTGTGTGGTGGTGGTCA GTGGTGATTGGGCACTGTAGTGAGTGGGGGGACAGTGGTGAGTGGGAGGA CAGTGGTGAGT	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01243.hp1 HG01081.hp2 HG01243.hp1	a0001 a0001	a0001c0015 a0001c0048 a0001c0015 a0001c0048	a0001c0015t0001 a0001c0048t0001 a0001c0015t0001 a0001c0048t0001	a0001c0015t0001g0159 a0001c0048t0001g0025 a0001c0015t0001g0159 a0001c0048t0001g0025	2	286	0.0070	-160	c.153 others(19): Show c.1539+1870_1540-1918del	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MUC22_chr6_31005474_31040402	31021314	AGGGCCTT others(153): Show AGGGCCTTGGAGAACCTTTATGTCTAGCTCAGGGATTGTAAATACACCAA TCGGCACTCTGTATCTAGCTCAAGGTTTGTAAACACACCAATCAGCACCC TGTGTCTAGCTCAGGGTTTGTGAGTGCACCAATCAACACTCTGTATCTAG CTGCTCTCGTG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02451.hp2 HG03471.hp1 others(2): Show HG02258.hp2 HG02451.hp2 HG03471.hp1 HG06807.hp1 NA19240.hp1	a0055 a0089 a0116 others(1): Show a0055 a0089 a0116 a0117	a0055c0057 a0089c0108 a0116c0121 others(1): Show a0055c0057 a0089c0108 a0116c0121 a0117c0119	a0055c0057t0001 a0089c0108t0001 a0116c0121t0003 others(1): Show a0055c0057t0001 a0089c0108t0001 a0116c0121t0003 a0117c0119t0010	a0055c0057t0001g0040 a0089c0108t0001g0158 a0116c0121t0003g0159 others(1): Show a0055c0057t0001g0040 a0089c0108t0001g0158 a0116c0121t0003g0159 a0117c0119t0010g0157	5	461	0.0109	-160	c.71- others(15): Show c.71-4083_71-3924del	MUC22	ENSG00000261272.1	transcript	ENST00000561890.1	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
MUC4_chr3_195741771_195816929	195771242	TGGGTTGG others(153): Show TGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTG GTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTTGGG TTGGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCA GTCTCGCGGCC	T T	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0067 a0067	a0067c0194 a0067c0194	a0067c0194t0012 a0067c0194t0012	a0067c0194t0012g0239 a0067c0194t0012g0239	1	249	0.0040	-160	c.132 others(19): Show c.13242+250_13242+409del	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
MUC5AC_chr11_1152953_1206138	1169343	GTTCACCC others(153): Show GTTCACCCATTCACTCACTCACCCACTCACCCACTCACCCACCTCACTCG CCGACTCAACCATTCACTCACCCATTCGCCCACTCACCTCACTCACTCAC CCACTCACTCACTCACCTCACTCACTCACCCACTCACTCACTCACCTCAC TCACTCACCCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01099.hp2 HG01168.hp2 others(8): Show HG00099.hp2 HG01099.hp2 HG01168.hp2 HG01169.hp2 HG01433.hp1 HG01516.hp2 HG02109.hp2 HG02818.hp1 HG02922.hp2 HG03195.hp2 NA20805.hp1	a0009 a0010 a0016 others(3): Show a0009 a0010 a0016 a0028 a0029 a0031	a0009c0020 a0010c0019 a0016c0029 others(3): Show a0009c0020 a0010c0019 a0016c0029 a0028c0082 a0029c0081 a0031c0079	a0009c0020t0002 a0010c0019t0002 a0016c0029t0002 others(3): Show a0009c0020t0002 a0010c0019t0002 a0016c0029t0002 a0028c0082t0003 a0029c0081t0002 a0031c0079t0002	a0009c0020t0002g0008 a0010c0019t0002g0007 a0016c0029t0002g0017 others(4): Show a0009c0020t0002g0008 a0010c0019t0002g0007 a0016c0029t0002g0017 a0016c0029t0002g0046 a0028c0082t0003g0045 a0029c0081t0002g0044 a0031c0079t0002g0017	11	292	0.0377	-160	c.187 others(17): Show c.1870+404_1870+563del	MUC5AC	ENSG00000215182.8	transcript	ENST00000621226.2	protein_coding	15/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MXRA8_chr1_1347691_1363555	1350281	GGGGCAGG others(153): Show GGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACCGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp2 NA18980.hp1 HG02165.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0009 a0001c0001t0004g0009	2	338	0.0059	-160	c.31 others(11): Show c.3163_*3322del	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		2409		chr1	TogoVar
MXRA8_chr1_1347691_1363555	1351121	GGGGCAGG others(153): Show GGGGCAGGAGCGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCTGGAG CGACGGGGGGAGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGG AGTGAGGAGGGGGCCTGGACGGGGCAGGAGCGACGGGGGGAGTGAGGAGG GGGCCTGGACC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	338	0.0030	-160	c.23 others(11): Show c.2323_*2482del	MXRA8	ENSG00000162576.17	transcript	ENST00000309212.11	protein_coding		1569		chr1	TogoVar
MYOM2_chr8_2040046_2150456	2085692	CGTGGCCC others(153): Show CGTGGCCCCCCACTGTCGTGATCTCTTTGTGGCCCCCCACTGTTGTGATC TCTGCGTGGCCCCCCACAGTCGTGATCTCTTTGTGGCCCCCTACTGTCGT GATCTCTGCGTGGCCCCCCACAGTCGTGATCTCTGCGTGGCCCCACTGTC GTGATCTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18997.hp2 HG02074.hp1 NA18997.hp2	a0001 a0077 a0001 a0077	a0001c0020 a0077c0135 a0001c0020 a0077c0135	a0001c0020t0002 a0077c0135t0001 a0001c0020t0002 a0077c0135t0001	a0001c0020t0002g0249 a0077c0135t0001g0231 a0001c0020t0002g0249 a0077c0135t0001g0231	2	403	0.0050	-160	c.164 others(17): Show c.1644+318_1644+477del	MYOM2	ENSG00000036448.10	transcript	ENST00000262113.9	protein_coding	14/36		INFO_REALIGN_3_PRIME	chr8	TogoVar
NAPSA_chr19_50353477_50370639	50364268	TCGCGCCA others(153): Show TCGCGCCATTGCACTCCAGCCTGGGCGACAGGGCAAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAGGCCAGGCGCGGTGGCTTACGCCTGTAATCCCAG CACTTTGCGAGGCTGAGGTGGGTGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18747.hp2 NA18950.hp2 HG00621.hp2 NA18747.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	3	350	0.0086	-160	c.83+ others(15): Show c.83+1111_83+1270del	NAPSA	ENSG00000131400.9	transcript	ENST00000253719.7	protein_coding	1/8			chr19	TogoVar
NDST4_chr4_114822763_115118620	115021461	GTACACAC others(153): Show GTACACACGTTCCACATATACACATTCCATATATACACACGTTCCACATA TACACATTCCATATATACACACGTTCCACATATACACATTCCATATATAC ACACGTTCCACATATACACATTCCATATATACACACGTTCCACATATACA CATTCCATATA	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00735.hp2 HG01081.hp2 others(4): Show HG00323.hp1 HG00735.hp2 HG01081.hp2 HG01175.hp1 HG03239.hp1 HG03669.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0001t0001 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0016 a0001c0002t0001g0015 a0001c0002t0001g0017 others(4): Show a0001c0001t0001g0016 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0044 a0001c0006t0001g0183	7	190	0.0368	-160	c.979 others(19): Show c.979-44347_979-44188del	NDST4	ENSG00000138653.10	transcript	ENST00000264363.7	protein_coding	2/13			chr4	TogoVar
NEU4_chr2_241804193_241822413	241807571	CTCCCCCC others(153): Show CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	319	0.0031	-160	c.-17 others(11): Show c.-1706_-1547del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1621		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807638	TGCAGGCC others(153): Show TGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGC CACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTC CCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCCCCTCAGCC CAGGGACCTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG02300.hp2 HG00741.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0018 a0001c0004t0001g0154 a0001c0001t0001g0018 a0001c0004t0001g0154	2	319	0.0063	-160	c.-16 others(11): Show c.-1639_-1480del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1554		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807728	ACCTTCCC others(153): Show ACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCC CCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCTG CAGGCCACCTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	319	0.0031	-160	c.-15 others(11): Show c.-1549_-1390del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1464		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807810	TCCCTCCC others(153): Show TCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCTCAGCCC AGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCCCAGGGACC TCCGCAGGCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp2 NA18962.hp2 NA19004.hp2 HG01496.hp2 NA18962.hp2 NA19004.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0003 a0002c0003t0002 a0001c0001t0003 a0002c0003t0002	a0001c0001t0003g0010 a0002c0003t0002g0144 a0002c0003t0002g0165 a0001c0001t0003g0010 a0002c0003t0002g0144 a0002c0003t0002g0165	3	319	0.0094	-160	c.-14 others(11): Show c.-1467_-1308del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1382		chr2	TogoVar
NEU4_chr2_241804193_241822413	241807852	CTCCCCCC others(153): Show CTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAGCC CAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCT GCAGGCCACCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0013 a0002c0003t0002g0013	1	319	0.0031	-160	c.-14 others(11): Show c.-1425_-1266del	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1340		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79532188	TCGGCAGA others(153): Show TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCGCCTGCAGTCCCCCGCCCCTCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0078 a0001c0004t0004g0078	1	322	0.0031	-160	c.46 others(11): Show c.4612_*4771del	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2866		chr18	TogoVar
NKD2_chr5_1003802_1043943	1038932	AAAGAGAA others(153): Show AAAGAGAAGTGCCAGAGTAGGGAGTGCAGACCAGTGAGGAGGGGCCACAG GGCACAGGGGGAGCCCACACCAGTGAGGAGGGGCCACAGGGCAGCATGCG GCAGTGGAGGTAGCCCCTGGTCCCGGAGCCACAGCAGCTCAGGTGCATGC AGGACACAGTC	A A	splice_region_variant splice_region_variant	LOW	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0010 a0001c0001t0021g0010	1	319	0.0031	-160	c.56 others(9): Show c.560_*719del	NKD2	ENSG00000145506.14	transcript	ENST00000296849.10	protein_coding	10/10			chr5	TogoVar
NLRP4_chr19_55831540_55886855	55849948	TCCGAGAC others(153): Show TCCGAGACTGCGGTGTAATTTCCGTAGCTGCGGTGTAATTTCCGAGACTG CGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATT TCCGTAGCTGCGGTGGAATTTCCGAGACTGCGGTGTAATTTCCGTGGCTG CGGTGTAATTA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01192.hp1 HG03516.hp2 others(5): Show HG00438.hp2 HG01192.hp1 HG03516.hp2 HG03654.hp2 NA18944.hp1 NA18963.hp2 NA19081.hp2 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0011 a0014	a0001c0001 a0002c0045 a0003c0007 others(2): Show a0001c0001 a0002c0045 a0003c0007 a0011c0032 a0014c0031	a0001c0001t0008 a0001c0001t0018 a0002c0045t0008 others(4): Show a0001c0001t0008 a0001c0001t0018 a0002c0045t0008 a0003c0007t0001 a0003c0007t0002 a0011c0032t0001 a0014c0031t0001	a0001c0001t0008g0329 a0001c0001t0018g0367 a0002c0045t0008g0328 others(4): Show a0001c0001t0008g0329 a0001c0001t0018g0367 a0002c0045t0008g0328 a0003c0007t0001g0145 a0003c0007t0002g0006 a0011c0032t0001g0052 a0014c0031t0001g0030	8	424	0.0189	-160	c.-65 others(17): Show c.-65-2064_-65-1905del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850452	TGGCTGCG others(153): Show TGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTAATTTCCGAGGCTGCGGT GTAATGTCCGTGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATGTCCG TGGCTGCGGTGTAATGTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGT GTAATTTACGA	T T	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0016 a0002c0002t0011g0016	1	424	0.0024	-160	c.-65 others(17): Show c.-65-1549_-65-1390del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850692	TGGCTGCG others(153): Show TGGCTGCGGTGTACTTCCCGAGGCTGCGGTGTACTTTCCGAGGCTGCGGT GTACTTCCCGAGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTAATTCCCG AGGCTGCGGTGTAATTTCCGAGGCTGCGGTGTAATGTCCGAGGCTGCGGT GTAATTTACGA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp2 HG01515.hp2 HG01517.hp2	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0002 a0002c0015t0002	a0002c0015t0002g0337 a0002c0015t0002g0338 a0002c0015t0002g0337 a0002c0015t0002g0338	2	424	0.0047	-160	c.-65 others(17): Show c.-65-1311_-65-1152del	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535620	TGGAGAGG others(153): Show TGGAGAGGGGAGCACTCAGGATCCCTCCTGGGGCAATGGGTGCAGGGTGG GTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGG GAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGC AGGGTGGGTGG	T T	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0210 a0001c0006t0001g0210	1	324	0.0031	-160	c.140 others(17): Show c.140+8244_140+8403del	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NRDC_chr1_51784210_51883727	51846951	TGATTGGT others(153): Show TGATTGGTGCATTTACAAACCCTGAGCTAGACACAGAGTGCTGATTGGTG CATTCACAAACCTTGAGATAGACACAGAGTGCCGATTGGTGCATTCACAA TCCTTTAGCTAGACATAAAGGTTCTCCAAGTCCCCACCAGATCAGCTAGA CACAGAGTGCA	T T	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0141 a0002c0001t0001g0141	1	244	0.0041	-160	c.342 others(17): Show c.342-6597_342-6438del	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
OBP2A_chr9_135541126_135554969	135548977	ACTCTGGG others(153): Show ACTCTGGGCTGCGATGCGGTCTGGGGCTCCGCGCTCTGGGCTGCGATGGG GTCTGGGGCTCCGCGCTCTGGGCTGCGATGGGGTCTGGGGCTCCGCGCTC TGGGCTGCGATGGGGTCTGGGGCTCCGCGCTCTGGGCTGCGATGGGGTCT GGGGCTCCGCG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(78): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00558.hp2 HG00609.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01358.hp2 HG01496.hp1 HG01516.hp1 HG01952.hp1 HG01993.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02145.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02602.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02886.hp1 HG02965.hp1 HG03017.hp2 HG03239.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp2 NA18939.hp2 NA18941.hp1 NA18944.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18971.hp1 NA18971.hp2 NA18979.hp2 NA18983.hp2 NA18989.hp1 NA18991.hp1 NA18993.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19076.hp2 NA19080.hp1 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA20129.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0012 a0002 a0003 a0012	a0002c0002 a0003c0003 a0003c0013 others(1): Show a0002c0002 a0003c0003 a0003c0013 a0012c0014	a0002c0002t0002 a0002c0002t0003 a0003c0003t0002 others(3): Show a0002c0002t0002 a0002c0002t0003 a0003c0003t0002 a0003c0003t0003 a0003c0013t0002 a0012c0014t0002	a0002c0002t0002g0020 a0002c0002t0003g0009 a0002c0002t0003g0019 others(15): Show a0002c0002t0002g0020 a0002c0002t0003g0009 a0002c0002t0003g0019 a0002c0002t0003g0060 a0002c0002t0003g0070 a0002c0002t0003g0103 a0003c0003t0002g0003 a0003c0003t0002g0024 a0003c0003t0002g0036 a0003c0003t0002g0046 a0003c0003t0002g0065 a0003c0003t0002g0097 a0003c0003t0002g0122 a0003c0003t0003g0003 a0003c0003t0003g0025 a0003c0003t0003g0067 a0003c0013t0002g0003 a0012c0014t0002g0022	81	455	0.1780	-160	c.490 others(15): Show c.490+184_491-156del	OBP2A	ENSG00000122136.14	transcript	ENST00000371776.6	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
OTOGL_chr12_80094537_80385880	80180153	GTCATAGG others(153): Show GTCATAGGCTCTGGGCCTAGATGAATCTGCAGGTTGCTACTTTCATATTC CAAGGCATAATGGCCATCTGGATATGGAGGGTCATAGGCTCTGGGCCTAG ATGAATCTGCAGGTTGCTACTTTCATATTCCAAGGCATAATGGCCATCTG GATATGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00733.hp1 others(36): Show HG00423.hp2 HG00558.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01169.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp2 HG02280.hp2 HG03492.hp1 HG03516.hp1 HG03704.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp1 NA18941.hp1 NA18946.hp2 NA18978.hp2 NA18986.hp2 NA19011.hp2 NA19058.hp2 NA19084.hp1 NA20300.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0010 a0011 a0021 a0024	a0001c0001 a0002c0006 a0003c0002 others(5): Show a0001c0001 a0002c0006 a0003c0002 a0004c0004 a0010c0013 a0011c0011 a0021c0029 a0024c0033	a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 others(7): Show a0001c0001t0001 a0001c0001t0011 a0001c0001t0013 a0002c0006t0008 a0003c0002t0004 a0004c0004t0003 a0010c0013t0004 a0011c0011t0003 a0021c0029t0001 a0024c0033t0004	a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0065 others(36): Show a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0154 a0001c0001t0001g0167 a0001c0001t0011g0114 a0001c0001t0013g0046 a0002c0006t0008g0100 a0002c0006t0008g0102 a0002c0006t0008g0105 a0003c0002t0004g0056 a0003c0002t0004g0107 a0003c0002t0004g0121 a0003c0002t0004g0124 a0004c0004t0003g0098 a0004c0004t0003g0106 a0004c0004t0003g0122 a0004c0004t0003g0138 a0010c0013t0004g0020 a0010c0013t0004g0044 a0011c0011t0003g0108 a0021c0029t0001g0099 a0024c0033t0004g0103	39	168	0.2321	-160	c.-19 others(19): Show c.-19-29240_-19-29081del	OTOGL	ENSG00000165899.12	transcript	ENST00000547103.7	protein_coding	1/58		INFO_REALIGN_3_PRIME	chr12	TogoVar
PAK5_chr20_9532370_9844076	9641216	CCACAAAC others(153): Show CCACAAACCTTGAGCTAAACACAGGGTGCTGATTGGTGTGTTTACAAACC TTGAGCTAGATACAGAGTGCCGATTGGTGTATTTACAATCCCTGAGCTAG ACATAAAGGTTCTCCAAGGCCCCACCAGAGCAGCTAGATACAGAGTGTCG ACTGGTGCACT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03453.hp2 HG00639.hp2 HG03453.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0007 a0002c0001t0005 a0001c0002t0007 a0002c0001t0005	a0001c0002t0007g0009 a0002c0001t0005g0007 a0001c0002t0007g0009 a0002c0001t0005g0007	2	208	0.0096	-160	c.204 others(17): Show c.204+2749_204+2908del	PAK5	ENSG00000101349.17	transcript	ENST00000353224.10	protein_coding	3/9			chr20	TogoVar
PAX7_chr1_18625846_18753866	18725960	GTAAAACA others(153): Show GTAAAACAGACATTGGAAGAGTGTGTGTGTGTGTGCGCGCGCGCGCGTGC GCGCGTGTGTGTGCGTGTGTTTGTGTGTGTGTGTGTCTTTGACTTCTTGG ACAATAAGTGGAATGCCATTCTGTTCCTCCCTCCGCCCCCACCTCACCTC TAGACATCTTA	G G	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	302	0.0033	-160	c.115 others(19): Show c.1156-9647_1156-9488del	PAX7	ENSG00000009709.12	transcript	ENST00000420770.7	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
PIEZO1_chr16_88710338_88790220	88771841	GTCCACCC others(153): Show GTCCACCCGCGGCCCCAGGCCCTCCTGAGACTCTATGCCCGTCCACCCGC GGCCCCAGGCCCTCCTGAGACTCTATGCCCGTCCACCCGCGGCCCCAGGC CCACCTGAGACTCTATGCCCGTCCACCCGCGGCCCCAGGCCCTCCTGAGA CTCTATGCCCA	G G	intron_variant intron_variant	MODIFIER	HG02055.hp1 NA20129.hp1 HG02055.hp1 NA20129.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0140 a0001c0001 a0007c0140	a0001c0001t0001 a0007c0140t0001 a0001c0001t0001 a0007c0140t0001	a0001c0001t0001g0211 a0007c0140t0001g0212 a0001c0001t0001g0211 a0007c0140t0001g0212	2	282	0.0071	-160	c.64+ others(17): Show c.64+12900_64+13059del	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	1/50			chr16	TogoVar
PIP4K2A_chr10_22529854_22719578	22664044	TATACATA others(153): Show TATACATATGTATATATACATATATATATATACGTATATATATATACATA TATATATATACATATATATATACATATATATATATACATATATATATACA TATATATACACATATATATATATACATATATATATATACATATATATACA TATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01515.hp2 HG01934.hp2 others(9): Show HG01243.hp1 HG01515.hp2 HG01934.hp2 HG02486.hp1 HG02602.hp2 HG02976.hp1 HG03139.hp2 HG03490.hp1 HG03492.hp2 HG03831.hp1 NA18522.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0034 a0001c0002t0001 a0001c0002t0002 others(1): Show a0001c0001t0034 a0001c0002t0001 a0001c0002t0002 a0001c0002t0027	a0001c0001t0034g0101 a0001c0002t0001g0048 a0001c0002t0001g0049 others(9): Show a0001c0001t0034g0101 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0055 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0002g0056 a0001c0002t0027g0001	12	206	0.0583	-160	c.144 others(19): Show c.144+49979_144+50138del	PIP4K2A	ENSG00000150867.14	transcript	ENST00000376573.9	protein_coding	1/9			chr10	TogoVar
PKP3_chr11_389209_409908	401751	CCCCGCCC others(153): Show CCCCGCCCCGCTCACCCCCGCCCCGCTCACCCCCGACCCCCGGCCCCGCT CACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCC CGCTCACCCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCC GGCTCCACTGA	C C	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0104 a0001c0009t0001g0104	1	216	0.0046	-160	c.173 others(19): Show c.1737+1050_1738-1164del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402463	CCCGGACC others(153): Show CCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCA CTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCGGCC CCGCTCACCCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCC GGCCCCGCTCA	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02056.hp1 NA18950.hp2 HG01934.hp1 HG02056.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0062 a0001c0001t0001g0043 a0001c0001t0001g0054 a0001c0001t0001g0062	3	216	0.0139	-160	c.173 others(17): Show c.1738-612_1738-453del	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU6F1_chr12_51181936_51223062	51197043	TGTCTACC others(153): Show TGTCTACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGG TTTCCAGGGCTAGGGGTCTACCTGCTGGATGGTTTCCAGGGCTAGGGGTC TACCGGCTGGATGGTTTCCAGGGCTAGGGGTCTACCGGCTGGATGGTTTC CAGGGCTAGGG	T T	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0148 a0001c0001t0005g0148	1	440	0.0023	-160	c.847 others(15): Show c.847-276_847-117del	POU6F1	ENSG00000184271.18	transcript	ENST00000333640.12	protein_coding	6/10			chr12	TogoVar
PPP2R2D_chr10_131896008_131964834	131917570	GGCGGGTG others(153): Show GGCGGGTGGAATGACAGTGTTTGTAGGGACCTCACGTGGGTGGAATGACA CAGTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGTAGGGACCTCATG TGGGTGGAATGACAGTGTAGGGACCTCAGGCGGGTGGAATGACACAGTGT AGGGACCTCAC	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00597.hp1 others(84): Show HG00408.hp1 HG00544.hp2 HG00597.hp1 HG01192.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01943.hp2 HG01952.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02129.hp1 HG02135.hp1 HG02293.hp2 HG02451.hp2 HG02602.hp1 HG02683.hp2 HG02818.hp2 HG02896.hp2 HG02897.hp1 HG03098.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 NA18941.hp2 NA18944.hp2 NA18948.hp1 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18968.hp2 NA18970.hp1 NA18971.hp2 NA18979.hp1 NA18980.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19011.hp2 NA19054.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp2 NA19089.hp1 NA19090.hp2 NA20129.hp1 NA20752.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0004 a0001c0001 a0001c0005 a0003c0004	a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 others(40): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0027 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0101 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0005t0018 a0003c0004t0113	a0001c0001t0003g0015 a0001c0001t0003g0037 a0001c0001t0003g0074 others(82): Show a0001c0001t0003g0015 a0001c0001t0003g0037 a0001c0001t0003g0074 a0001c0001t0003g0075 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0084 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0091 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0003g0109 a0001c0001t0003g0110 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0136 a0001c0001t0003g0164 a0001c0001t0006g0047 a0001c0001t0006g0083 a0001c0001t0006g0085 a0001c0001t0006g0093 a0001c0001t0006g0094 a0001c0001t0006g0095 a0001c0001t0006g0115 a0001c0001t0006g0116 a0001c0001t0006g0119 a0001c0001t0008g0065 a0001c0001t0008g0066 a0001c0001t0011g0073 a0001c0001t0011g0077 a0001c0001t0011g0078 a0001c0001t0011g0080 a0001c0001t0011g0192 a0001c0001t0016g0022 a0001c0001t0016g0123 a0001c0001t0016g0125 a0001c0001t0017g0001 a0001c0001t0017g0013 a0001c0001t0017g0133 a0001c0001t0017g0257 a0001c0001t0018g0054 a0001c0001t0018g0055 a0001c0001t0020g0014 a0001c0001t0020g0111 a0001c0001t0020g0189 a0001c0001t0027g0120 a0001c0001t0027g0129 a0001c0001t0033g0090 a0001c0001t0033g0134 a0001c0001t0035g0014 a0001c0001t0035g0112 a0001c0001t0036g0048 a0001c0001t0037g0099 a0001c0001t0038g0121 a0001c0001t0039g0097 a0001c0001t0065g0092 a0001c0001t0066g0172 a0001c0001t0067g0167 a0001c0001t0084g0098 a0001c0001t0085g0105 a0001c0001t0086g0122 a0001c0001t0089g0086 a0001c0001t0090g0106 a0001c0001t0091g0166 a0001c0001t0092g0053 a0001c0001t0093g0165 a0001c0001t0095g0114 a0001c0001t0096g0056 a0001c0001t0097g0001 a0001c0001t0098g0096 a0001c0001t0100g0101 a0001c0001t0101g0126 a0001c0001t0103g0108 a0001c0001t0104g0001 a0001c0001t0105g0013 a0001c0001t0106g0087 a0001c0001t0107g0079 a0001c0001t0109g0169 a0001c0001t0110g0100 a0001c0001t0111g0001 a0001c0001t0112g0124 a0001c0005t0018g0255 a0003c0004t0113g0103	87	394	0.2208	-160	c.100 others(19): Show c.100+16242_100+16401del	PPP2R2D	ENSG00000175470.20	transcript	ENST00000455566.6	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr10	TogoVar
PRKCA_chr17_66297613_66815743	66748956	AAACCCCC others(153): Show AAACCCCCTCCCTGGCCAGTCTGCATCTTCAGAGGGTGACACCAGGACGG GCGGGTATTAGGTATCTTGGCTCTGAATTGGAACCCCCTCCCTGGCCAGT CTGCATCTTCAGAGGGTGACACCAGGACAGGCGGGTATTAGGTATCTTGG CTCTGAATTGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG03041.hp1 HG03688.hp2 others(1): Show HG00741.hp2 HG03041.hp1 HG03688.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0006 a0001c0002t0090 a0001c0002t0003 a0001c0002t0006 a0001c0002t0090	a0001c0002t0003g0014 a0001c0002t0003g0019 a0001c0002t0006g0028 others(1): Show a0001c0002t0003g0014 a0001c0002t0003g0019 a0001c0002t0006g0028 a0001c0002t0090g0119	4	178	0.0225	-160	c.152 others(19): Show c.1524+6277_1524+6436del	PRKCA	ENSG00000154229.12	transcript	ENST00000413366.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr17	TogoVar
RAB40C_chr16_585066_634268	631727	ACTTCTCC others(153): Show ACTTCTCCCACCCCTTCACTGCCTCTCCTTCCATCCTCTCCTCCCACCCT CTCCTCCCATCCACTCCTCCCATCCACTTCTTCCATCCTCTTCTCCCACC CCGTCACTGCCTCTCCTTCCATCCTCTCCTATCCACTCCTCCCATCCACT TCTTCCATCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp1 others(78): Show HG00099.hp2 HG00140.hp1 HG00323.hp1 HG00738.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp2 HG02109.hp1 HG02129.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1 NA18940.hp1 NA18963.hp1 NA18967.hp2 NA18974.hp2 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19083.hp2 NA19087.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0034 a0001c0004t0023	a0001c0001t0002g0297 a0001c0001t0003g0014 a0001c0001t0003g0160 others(77): Show a0001c0001t0002g0297 a0001c0001t0003g0014 a0001c0001t0003g0160 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0190 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0199 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0203 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0004g0162 a0001c0001t0004g0164 a0001c0001t0004g0165 a0001c0001t0004g0166 a0001c0001t0004g0167 a0001c0001t0004g0169 a0001c0001t0004g0170 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0322 a0001c0001t0005g0212 a0001c0001t0005g0213 a0001c0001t0005g0224 a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0006g0031 a0001c0001t0006g0032 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0007g0037 a0001c0001t0008g0039 a0001c0001t0008g0040 a0001c0001t0010g0035 a0001c0001t0010g0038 a0001c0001t0012g0154 a0001c0001t0012g0155 a0001c0001t0013g0024 a0001c0001t0013g0036 a0001c0001t0020g0034 a0001c0001t0021g0185 a0001c0001t0028g0033 a0001c0001t0030g0204 a0001c0001t0031g0161 a0001c0001t0034g0156 a0001c0004t0023g0041	81	350	0.2314	-160	c.41 others(11): Show c.4106_*4265del	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding		2460		chr16	TogoVar
RBBP6_chr16_24534566_24577863	24574404	CCTCACTT others(153): Show CCTCACTTCTCAGATGGGGCGGCTGCCGGGCGGAGGGGCTTCTCACTTCT CAGATGGGGCGGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGACGGGGC GGCTGCCGGGCGGAGGGGCTCCTCACTTCTCAGATGGGGCGGCTGCCGGG CGGAGGGGCTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0078 a0001c0002t0004g0078	1	336	0.0030	-160	c.19 others(11): Show c.1960_*2119del	RBBP6	ENSG00000122257.20	transcript	ENST00000319715.10	protein_coding		1542		chr16	TogoVar
RBM34_chr1_235126183_235166250	235140938	AGCACTCT others(153): Show AGCACTCTGTATCTAGCTCAAGGTTTGTAAACACACCAATCGGCACCCTG TGTTTAGCTCAAGGTTTGTGAGTGCACCAATCGACACTCAGTATCTAGCT GCTCTGGTGGGGCCTTGGACAACCTTTATGTCTAGCTCAGGGATTGTAAA TACACCAATCG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0269 a0001c0002t0001g0269	1	388	0.0026	-160	c.702 others(17): Show c.702-2924_702-2765del	RBM34	ENSG00000188739.15	transcript	ENST00000408888.8	protein_coding	6/10			chr1	TogoVar
RETREG1_chr5_16468053_16621997	16535572	TGCTGCCT others(153): Show TGCTGCCTTCACAAAGTGGGAGCTGGGGTTCCTGTGTACACGCTGCCTTC ACGAAGTGGGAGCTGGGGTTCCTGTGTGCACGCTGCCTTCACAAAGTGGG AGCTGGGGTTCCTGTGTGCACGCTGCCTTCACAAAGTGGGAGCTGGGGTT CCTGTGTGCAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp2 HG02280.hp2 others(6): Show HG01884.hp2 HG01891.hp2 HG02280.hp2 HG02572.hp1 HG02630.hp2 HG02965.hp1 HG03098.hp2 HG03195.hp1 HG03471.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0003 a0001c0004t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0004t0007 a0001c0004t0009 a0002c0003t0005	a0001c0001t0001g0165 a0001c0001t0003g0086 a0001c0004t0007g0013 others(6): Show a0001c0001t0001g0165 a0001c0001t0003g0086 a0001c0004t0007g0013 a0001c0004t0007g0069 a0001c0004t0007g0163 a0001c0004t0007g0241 a0001c0004t0009g0247 a0002c0003t0005g0067 a0002c0003t0005g0085	9	294	0.0306	-160	c.458 others(19): Show c.458+30031_458+30190del	RETREG1	ENSG00000154153.15	transcript	ENST00000306320.10	protein_coding	3/8			chr5	TogoVar
SAMHD1_chr20_36885229_36956708	36947391	TGTGATTT others(153): Show TGTGATTTGGAAGAGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TCCTGGGAAAGCACTCAATACTCTGATTTGGAAGAGGTGTGTGTGTGTGT GAGTGTGTGTGTGTGTGTGTGTGTCCTGGGAAAGCACTCAATACTCTGAT TTGGAAGAGGG	T T	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0339 a0001c0002t0046g0339	1	340	0.0029	-160	c.209 others(15): Show c.209-747_209-588del	SAMHD1	ENSG00000101347.11	transcript	ENST00000646673.2	protein_coding	1/15			chr20	TogoVar
SARDH_chr9_133658560_133743352	133669043	CCCTTACC others(153): Show CCCTTACCCTCCCTCTCCCTCACCCTCCATCTCCCCTCACCCTCCCTCTC CCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTCCC TTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTC ACCCTCCATCT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG04184.hp2 HG00280.hp2 HG00323.hp2 HG04184.hp2	a0002 a0002	a0002c0008 a0002c0010 a0002c0008 a0002c0010	a0002c0008t0001 a0002c0008t0002 a0002c0010t0001 a0002c0008t0001 a0002c0008t0002 a0002c0010t0001	a0002c0008t0001g0042 a0002c0008t0002g0025 a0002c0010t0001g0076 a0002c0008t0001g0042 a0002c0008t0002g0025 a0002c0010t0001g0076	3	262	0.0115	-160	c.249 others(19): Show c.2495+1381_2495+1540del	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SDHA_chr5_213320_262082	259218	GAGCATTA others(153): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCCGCCCCCCGCCAGAGC ATTACCGTGTGAGCTCCGCCCCCCGCCAGAGCATTACCGTGTGAGCTCCG CCCCCCGCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG04184.hp1 HG04228.hp1 others(1): Show HG01071.hp1 HG04184.hp1 HG04228.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0002 a0001c0009t0002 a0001c0001t0002 a0001c0009t0002	a0001c0001t0002g0018 a0001c0001t0002g0051 a0001c0001t0002g0058 others(1): Show a0001c0001t0002g0018 a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0009t0002g0006	4	266	0.0150	-160	c.27 others(11): Show c.2799_*2958del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2137		chr5	TogoVar
SDHA_chr5_213320_262082	260720	AGAGCATT others(153): Show AGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAG CTCCGCCTCCCGACAGAGCATTACCGTGTGAGCTCCGCCTCCTGCCAGAG CATTACCGTGTGAGCTCCGCCTCCCGCCAGAGCATTACCGTGTGAGCTCC GCCTCCCGTCC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	266	0.0038	-160	c.43 others(11): Show c.4301_*4460del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3639		chr5	TogoVar
SDHA_chr5_213320_262082	261198	TCAGAGCA others(153): Show TCAGAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTG AGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGCTCCGCCTCCCCGCAG AGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCT CCGCCTCCCGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	266	0.0038	-160	c.47 others(11): Show c.4779_*4938del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4117		chr5	TogoVar
SDHA_chr5_213320_262082	261233	CAGCATTA others(153): Show CAGCATTACCGTGTGAGCTCCGCCTCCCGTCACAGCATTACCGTGTGAGC TCCGCCTCCCCGCAGAGCATTACCGTGTGAGCTCCGCCTCCCGGCAGAGC ATTACCGTGTGAGCTCCGCCTCCCGGCAGAGCATTACCGTGTGAGCTCCG CCTCCCGGCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0002 a0005c0006t0002	a0005c0006t0002g0041 a0005c0006t0002g0041	1	266	0.0038	-160	c.48 others(11): Show c.4814_*4973del	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4152		chr5	TogoVar
SEPTIN5_chr22_19709503_19728319	19726426	GCTGTGGG others(153): Show GCTGTGGGGACGGTGAGGACGCTGTGGACGCGGTGAGGACGCTGTGGACG CGGCGAGGGAGCTGTCAGGGCGGTGAGGACGCTGTGGACGCGGTGAGGAC GCTGTGGACGCGGCGAGGGAGCTGTCGGGGCGGTGAGGACGCTGTGGACG CGGTGAGGACA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	-160	c.39 others(11): Show c.3943_*4102del	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		3108		chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	TAGCAGGG others(153): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGC	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0045 a0001c0042t0045	a0001c0042t0045g0037 a0001c0042t0045g0037	1	380	0.0026	-160	c.-32 others(17): Show c.-32-1796_-32-1637del	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302763	GGTGAGGA others(153): Show GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCA	G G	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0171 a0001c0171	a0001c0171t0083 a0001c0171t0083	a0001c0171t0083g0264 a0001c0171t0083g0264	1	380	0.0026	-160	c.-32 others(17): Show c.-32-1946_-32-1787del	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SHISAL1_chr22_44238665_44317951	44302787	GCCCTGGG others(153): Show GCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGT GGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTG AGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCAGTGAGGAGGCAGC AGGGGCAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02027.hp1 HG02145.hp2 others(8): Show HG00408.hp2 HG02027.hp1 HG02145.hp2 HG02300.hp1 HG02615.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03471.hp2 NA19043.hp2 NA19090.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0006 others(8): Show a0001c0003 a0001c0004 a0001c0006 a0001c0033 a0001c0035 a0001c0061 a0001c0136 a0001c0185 a0001c0266 a0001c0326 a0001c0349	a0001c0003t0004 a0001c0004t0010 a0001c0006t0018 others(8): Show a0001c0003t0004 a0001c0004t0010 a0001c0006t0018 a0001c0033t0060 a0001c0035t0042 a0001c0061t0007 a0001c0136t0005 a0001c0185t0038 a0001c0266t0001 a0001c0326t0069 a0001c0349t0017	a0001c0003t0004g0254 a0001c0004t0010g0065 a0001c0006t0018g0255 others(8): Show a0001c0003t0004g0254 a0001c0004t0010g0065 a0001c0006t0018g0255 a0001c0033t0060g0303 a0001c0035t0042g0033 a0001c0061t0007g0025 a0001c0136t0005g0095 a0001c0185t0038g0011 a0001c0266t0001g0134 a0001c0326t0069g0291 a0001c0349t0017g0034	11	380	0.0290	-160	c.-32 others(17): Show c.-32-1970_-32-1811del	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar
SIGIRR_chr11_400716_419999	402463	CCCGGACC others(153): Show CCCGGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCA CTGACCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCGGCC CCGCTCACCCCCGGCCCCGCTCACCCCGACCCCGCTCACCCCCGACCCCC GGCCCCGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00621.hp2 others(4): Show HG00408.hp2 HG00438.hp1 HG00621.hp2 HG01934.hp1 HG02056.hp1 NA18944.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0143 a0001c0001t0001g0145 others(4): Show a0001c0001t0001g0004 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0159 a0001c0001t0001g0163 a0001c0001t0001g0181	7	242	0.0289	-160	c.32 others(11): Show c.3273_*3432del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3252		chr11	TogoVar
SIGIRR_chr11_400716_419999	402478	CCCCCGAC others(153): Show CCCCCGACCCCCGGCCCCGCTCACCCCCGGCTCCACTGACCCCGGCCCCG CTCACCCCGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCCCGGC CCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCGGCCCCGCTCACCCC CGACCCGCTCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	242	0.0041	-160	c.32 others(11): Show c.3258_*3417del	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3237		chr11	TogoVar
SLC17A9_chr20_62947709_62974585	62960987	CCAGGGTG others(153): Show CCAGGGTGGGCCTATCAGCTGGCTGGAGGGCGGCTTGTCCTCAGGGTGGG CCTATCAGCTGGCTGGAGGGCGGCTTGTCCTCACGGTGGGCCTATCAGCT GGCTGGAGGGCGGCTTGTCCTCAGGGTGGGCCTATCAGCTGGCTGGAGGG CGGCTTGTCCT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 NA19070.hp2 HG03041.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0017 a0001c0001t0001 a0001c0002t0017	a0001c0001t0001g0126 a0001c0002t0017g0188 a0001c0001t0001g0126 a0001c0002t0017g0188	2	432	0.0046	-160	c.497 others(15): Show c.497+467_497+626del	SLC17A9	ENSG00000101194.18	transcript	ENST00000370351.9	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar

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