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
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(167): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCAGCCCCCACCCCG CGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCAC CCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCC GCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0300 a0001c0001t0001g0300	1	376	0.0027	174	c.-58 others(181): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCAG CCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCG CCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCG CCCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(167): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCAC CCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCC GCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	376	0.0027	174	c.-58 others(181): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCG CCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCG CCCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(167): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCC CCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCC GCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18986.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	376	0.0027	174	c.-58 others(181): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCG CCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCG CCCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(167): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCC CCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCC GCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	376	0.0027	174	c.-58 others(181): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCG CCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCG CCCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550532	G G	GCGCCCGC others(167): Show GCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCC CCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCC CGCCCGCCCGCCCCCACCCCGCGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	376	0.0027	174	c.-38 others(181): Show c.-38_-37insCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCC GCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCC CACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		21		chr5	TogoVar
RXRA_chr9_134321455_134445585	134368942	A A	ATGTGTGT others(167): Show ATGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTGTGTGTGTGAGTGCG GGGCTTGTGTGTGTGTGTGGGGGGGGGGTTATGTGTGTGGGGGGGGTTAT GTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTATG TGTGTGTGTGAGTGCCGGGGTTATG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp1 HG01071.hp2 others(18): Show HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01169.hp2 HG01256.hp1 HG02145.hp2 HG02257.hp2 HG02486.hp1 HG02615.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG03490.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA19080.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0010 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0035 a0001c0001t0039 a0001c0001t0059 a0001c0002t0002	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0004g0005 others(16): Show a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0004g0005 a0001c0001t0004g0153 a0001c0001t0004g0225 a0001c0001t0006g0002 a0001c0001t0006g0183 a0001c0001t0010g0213 a0001c0001t0015g0115 a0001c0001t0015g0155 a0001c0001t0015g0207 a0001c0001t0017g0104 a0001c0001t0017g0105 a0001c0001t0021g0182 a0001c0001t0022g0208 a0001c0001t0035g0007 a0001c0001t0039g0206 a0001c0001t0059g0117 a0001c0002t0002g0008	21	232	0.0905	174	c.29- others(191): Show c.29-32656_29-32655insGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGGGGGGGGGGTTATGTGTGTGGGGGGGGTTATGTGTGTATGGGGG GTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAGT GCCGGGGTTATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134368942	A A	ATGTGTGT others(167): Show ATGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTGTGTGTGTGAGTGCG GGGCTTGTGTGTGTGTGTGTGGGGGGGGTTATGTGTGTGGGGGGGGTTAT GTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTATG TGTGTGTGTGAGTGCCGGGGTTATG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp2 HG00642.hp2 others(34): Show HG00597.hp1 HG00597.hp2 HG00642.hp2 HG00738.hp2 HG01070.hp2 HG01106.hp1 HG01243.hp2 HG01346.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG02027.hp2 HG02083.hp2 HG02129.hp2 HG02148.hp2 HG02293.hp1 HG02300.hp1 HG02602.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG03195.hp1 HG03225.hp2 HG03704.hp2 HG03710.hp2 HG04228.hp1 HG06807.hp1 NA18947.hp1 NA18964.hp2 NA18995.hp2 NA19004.hp2 NA19009.hp1 NA19070.hp1 NA19084.hp2 NA19085.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0036 a0001c0001t0062 a0001c0003t0013	a0001c0001t0001g0047 a0001c0001t0001g0195 a0001c0001t0001g0218 others(34): Show a0001c0001t0001g0047 a0001c0001t0001g0195 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0002g0015 a0001c0001t0002g0029 a0001c0001t0002g0046 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0179 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0193 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0219 a0001c0001t0002g0223 a0001c0001t0002g0226 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0224 a0001c0001t0005g0184 a0001c0001t0005g0185 a0001c0001t0005g0190 a0001c0001t0006g0040 a0001c0001t0008g0087 a0001c0001t0011g0132 a0001c0001t0013g0189 a0001c0001t0013g0197 a0001c0001t0016g0187 a0001c0001t0018g0191 a0001c0001t0020g0048 a0001c0001t0020g0106 a0001c0001t0021g0173 a0001c0001t0036g0201 a0001c0001t0062g0156 a0001c0003t0013g0035	37	232	0.1595	174	c.29- others(191): Show c.29-32656_29-32655insGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGTGGGGGGGGTTATGTGTGTGGGGGGGGTTATGTGTGTATGGGGG GTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAGT GCCGGGGTTATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134368942	A A	ATGTGTGT others(167): Show ATGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTGTGTGTGTGAGTGCG GGGCTTGTGTGTGTGTGTGTGTGGGGGGTTATGTGTGTGGGGGGGGTTAT GTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTATG TGTGTGTGTGAGTGCCGGGGTTATG	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18967.hp1 HG00621.hp2 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0118 a0001c0001t0002g0212 a0001c0001t0001g0118 a0001c0001t0002g0212	2	232	0.0086	174	c.29- others(191): Show c.29-32656_29-32655insGTGTGTGTGAGTGCGGGGCTTGTGTGTG TGTGTGTGTGGGGGGTTATGTGTGTGGGGGGGGTTATGTGTGTATGGGGG GTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAGT GCCGGGGTTATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RXRA_chr9_134321455_134445585	134369013	T T	TGTGGGGG others(167): Show TGTGGGGGGGTTATGTGTGTGGGGGGGGTTATGTGTGTATGGGGGGTTAT GTGTGGGGGGAGTTGTGTGTGTGGGGGTTATGTGTGTGTGTGAGTGCCGG GGTTATGTGTGTGTGAGTGCGGGGGTTGTGTGTGTGGGGTTATGTGTGTG TGAGTGCGGGGCTTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01109.hp2 HG02165.hp2 HG00642.hp1 HG01109.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0217 a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0001g0217 a0001c0001t0003g0009 a0001c0001t0003g0010	3	232	0.0129	174	c.29- others(191): Show c.29-32618_29-32617insTGGGGGGGTTATGTGTGTGGGGGGGGTT ATGTGTGTATGGGGGGTTATGTGTGGGGGGAGTTGTGTGTGTGGGGGTTA TGTGTGTGTGTGAGTGCCGGGGTTATGTGTGTGTGAGTGCGGGGGTTGTG TGTGTGGGGTTATGTGTGTGTGAGTGCGGGGCTTGTGTGTGTGTGG	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr9	TogoVar
RYR1_chr19_38428691_38592564	38540486	A A	ATAATAAA others(167): Show ATAATAAACCTCCAATCATATACTACAGTGTAATAAACCTCCAATCATAT ACTACAGTGTAATAAACCTCCAATCATATACTACAGTGTAATAAACCTCC AATCATATACTACAGTGTAATAAACCTCCAATCATATACTACAGTGTAAT AAACCTCCAATCATATACTACAGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0059 a0001c0059	a0001c0059t0001 a0001c0059t0001	a0001c0059t0001g0184 a0001c0059t0001g0184	1	218	0.0046	174	c.116 others(195): Show c.11689+2620_11689+2621insCCTCCAATCATATACTACAGTGTA ATAAACCTCCAATCATATACTACAGTGTAATAAACCTCCAATCATATACT ACAGTGTAATAAACCTCCAATCATATACTACAGTGTAATAAACCTCCAAT CATATACTACAGTGTAATAAACCTCCAATCATATACTACAGTGTAATAAA	RYR1	ENSG00000196218.14	transcript	ENST00000359596.8	protein_coding	84/105		INFO_REALIGN_3_PRIME	chr19	TogoVar
SAMD10_chr20_63969116_63984642	63970942	C C	CCTTCCTT others(167): Show CCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCT CCCTTCCTTCTCTTCCTTCCCTTCCCTTCCTCCCTCCCTTCTTCCTTCCT TTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCC TCCCTCCCTACCCTCCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0013 a0001c0001t0010g0013	1	342	0.0029	174	c.45 others(185): Show c.4567_*4568insAGAAGGAAGGGAGGGTAGGGAGGGAGGGAAGAGA AGAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAA GAAGGGAGGGAGGAAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGA GGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3173		chr20	TogoVar
SARDH_chr9_133658560_133743352	133668620	C C	CCCTCTCC others(167): Show CCCTCTCCCCTACCCACCCCCCTCACCCCTCCTCACCCCACTCCCCAACC CTCCCACTCCCTCACCCTCCCTCACCCCACCCTCCCTCACCCACACCCAC CCTCCCCCTCATCCACCTCTCCCTCACCCTCCCTCACCCTCACCCTCCCT CTCCCTCACCCTCCATCTCCCCTCA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0004 a0003c0013t0004	a0003c0013t0004g0052 a0003c0013t0004g0052	1	262	0.0038	174	c.249 others(193): Show c.2496-1751_2496-1750insTGAGGGGAGATGGAGGGTGAGGGAGA GGGAGGGTGAGGGTGAGGGAGGGTGAGGGAGAGGTGGATGAGGGGGAGGG TGGGTGTGGGTGAGGGAGGGTGGGGTGAGGGAGGGTGAGGGAGTGGGAGG GTTGGGGAGTGGGGTGAGGAGGGGTGAGGGGGGTGGGTAGGGGAGAGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SART1_chr11_65956734_65985137	65970879	T T	TGAGGAGG others(167): Show TGAGGAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAAGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTG AGGAGGGGGATGGTGGGATTCATGA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0083 a0002c0001t0001g0083	1	384	0.0026	174	c.157 others(193): Show c.1572+3059_1572+3060insAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAAGGGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTG GGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGG GGATGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SCAP_chr3_47408681_47480941	47416615	C C	CTTTTTTT others(167): Show CTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGC TGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGT TCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGC CCGCCACTACGCCCGGCTAATTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	304	0.0033	174	c.305 others(191): Show c.3056+506_3056+507insAAAAATTAGCCGGGCGTAGTGGCGGGCG CCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACC CGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCC TGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	SCAP	ENSG00000114650.21	transcript	ENST00000265565.10	protein_coding	18/22			chr3	TogoVar
SCGB2A2_chr11_62265158_62278160	62277841	G G	GCCCTCTC others(167): Show GCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG01496.hp1 HG02683.hp1 others(1): Show HG00323.hp2 HG01496.hp1 HG02683.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0041	4	390	0.0103	174	c.48 others(185): Show c.4846_*4847insCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4682		chr11	TogoVar
SCGB2A2_chr11_62265158_62278160	62277939	C C	CCTCTCCC others(167): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCGCTCTCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	390	0.0026	174	c.49 others(185): Show c.4944_*4945insCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCGCTCTCG	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4780		chr11	TogoVar
SCNN1D_chr1_1275436_1297025	1288831	T T	TCCCCCGT others(167): Show TCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0205 a0001c0009t0001g0205	1	290	0.0035	174	c.166 others(191): Show c.1662+797_1662+798insCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCC GTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCCCCGTCCCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289534	C C	CCTGCTCC others(167): Show CCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGT CCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTG CTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCG TGTCTCTGCTCCGTCCCCCGTGTCT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	290	0.0035	174	c.166 others(191): Show c.1663-725_1663-724insCCGTGTCCCTGCTCCGTCCCCCGTGTCT CTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCCCGTGTCTGCTCCGTCCC GTGTCCCTGCTCCGTCCCCCGTGTCCCTGCTCCGTCCCCCGTGTCTCTGC TCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289972	G G	GTCCCTGC others(167): Show GTCCCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTC	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0122 a0002c0003t0002g0122	1	290	0.0035	174	c.166 others(191): Show c.1663-297_1663-296insCCTGCCCCGTCCCGTGTCTCTGCTCCGT CCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTG CCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCG TGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77484938	T T	TTGGTGTG others(167): Show TTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATT GTGATGGGGTGATGGTAATATGGGTGATGGTGGTGATTGTGGTGGTAGTG GTGGTGATGGTGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTTGT GGTGTGGTAATGGTGATGGTGGTAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0031 a0002c0002t0031	a0002c0002t0031g0141 a0002c0002t0031g0141	1	150	0.0067	174	c.914 others(191): Show c.914-2486_914-2485insTGGTGTGGTGATGTGGGTGGTGGTGGTG ATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATATGGGTGATG GTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTGGT GAAGGGGGTGATGGTGGTTGTGGTGTGGTAATGGTGATGGTGGTAA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11			chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484938	T T	TTGGTGTG others(167): Show TTGGTGTGGTGATGTGGGTGGTGGTGGTGATGTGGGTGGTGGTGGTGATT GTGATGGGGTGATGGTAATATGGGTGATGGTGGTGATTGTGGTGGTAGTG GTGGTGATGGTGATGATTGTGATGGTGGTGAAGGGGGTGATGGTGGTTGT GGTGTGGTAATGGTGATGGTGGTAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0055 a0002c0002t0055	a0002c0002t0055g0067 a0002c0002t0055g0067	1	158	0.0063	174	c.860 others(191): Show c.860-2486_860-2485insTGGTGTGGTGATGTGGGTGGTGGTGGTG ATGTGGGTGGTGGTGGTGATTGTGATGGGGTGATGGTAATATGGGTGATG GTGGTGATTGTGGTGGTAGTGGTGGTGATGGTGATGATTGTGATGGTGGT GAAGGGGGTGATGGTGGTTGTGGTGTGGTAATGGTGATGGTGGTAA	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10			chr17	TogoVar
SERAC1_chr6_158104519_158173262	158169766	A A	ATATATTA others(167): Show ATATATTATATAATATATAATATACAATATATTATATAATATATGATATA CAATATATTATATATTATATAATATATTGTATATTATATATTATATAATA TATTGTATATTATATATTGTATATTATATATAATATATTGTATATTATAT ATTGTATATTATATATAATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0177 a0001c0001t0016g0177	1	366	0.0027	174	c.-16 others(185): Show c.-1629_-1628insCAATATATTATATATAATATACAATATATAATAT ACAATATATTATATATAATATACAATATATAATATACAATATATTATATA ATATATAATATACAATATATTATATAATATATAATATATTGTATATCATA TATTATATAATATATTGTATATTATATATTATATAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1505		chr6	TogoVar
SERPINB9_chr6_2882270_2908309	2893191	T T	TATATATA others(167): Show TATATATATATATTATATATACGTATATATATATAATATATATATATTAT ATATACGTATATATATACGTATATATAATATATATATTATATATACGTAT ATATAATATATATATATTATATATACGTATATATATACGTATATATAATA TATATATTATATATACGTATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0151 a0001c0001t0010g0151	1	462	0.0022	174	c.567 others(189): Show c.567+219_567+220insTATATATACGTATATATAATATATATATTA TATATACGTATATATATACGTATATATAATATATATATATTATATATACG TATATATAATATATATATTATATATACGTATATATATACGTATATATAAT ATATATATATTATATATATATACGTATATATAATATATATATAT	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	5/6			chr6	TogoVar
SHC2_chr19_411589_466033	431248	C C	CAGAGGAG others(167): Show CAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGA GTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGA GATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATC GTGAGTGAGATCGTGAGTGAGAGAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19240.hp1 NA18522.hp2 NA19240.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0014 a0005c0009t0005 a0005c0009t0014	a0005c0009t0005g0048 a0005c0009t0014g0040 a0005c0009t0005g0048 a0005c0009t0014g0040	2	212	0.0094	174	c.111 others(191): Show c.1111-502_1111-501insATCTCTCACTCACGATCTCACTCACGAT GAAGCGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCA CTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCA CGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	431332	G G	GCTTCATC others(167): Show GCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGA TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CAGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCCGGGCAGATAGATGGCA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp2 HG02451.hp2 others(3): Show HG01109.hp2 HG01884.hp2 HG02451.hp2 HG03225.hp2 HG03579.hp1 NA19043.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0007 a0001c0023 a0002c0024 others(1): Show a0001c0007 a0001c0023 a0002c0024 a0006c0011	a0001c0007t0006 a0001c0023t0007 a0002c0024t0003 others(1): Show a0001c0007t0006 a0001c0023t0007 a0002c0024t0003 a0006c0011t0005	a0001c0007t0006g0037 a0001c0007t0006g0055 a0001c0023t0007g0186 others(3): Show a0001c0007t0006g0037 a0001c0007t0006g0055 a0001c0023t0007g0186 a0002c0024t0003g0188 a0006c0011t0005g0059 a0006c0011t0005g0063	6	212	0.0283	174	c.111 others(191): Show c.1111-586_1111-585insTGCCATCTATCTGCCCGGCCTCCTCTAT CTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCTGGCC TCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCT GCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	431490	C C	CAGATGGC others(167): Show CAGATGGCGCTTCATCATGAGTGAGATCGTGAGTGAGAGATAGAGGAGGC CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTA GAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGTTAGAGGAGGCCAGGCAGAT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0004 a0002c0012t0004	a0002c0012t0004g0193 a0002c0012t0004g0193	1	212	0.0047	174	c.111 others(191): Show c.1111-744_1111-743insATCTGCCTGGCCTCCTCTAACTCTCACT CACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAA CTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCC TCCTCTATCTCTCACTCACGATCTCACTCATGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	431529	A A	ATAGAGGA others(167): Show ATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTG AGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTG AGATCGTGAGTGAGAGTTAGAGGAGGCCAGGCAGATAGATGGCGCTTCAT CGTGAGTGAGATCGTGAGTGAGAGT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG02132.hp2 HG04204.hp1 others(1): Show HG01952.hp1 HG02132.hp2 HG04204.hp1 NA19091.hp2	a0001 a0009 a0001 a0009	a0001c0003 a0009c0015 a0001c0003 a0009c0015	a0001c0003t0002 a0001c0003t0004 a0009c0015t0012 a0001c0003t0002 a0001c0003t0004 a0009c0015t0012	a0001c0003t0002g0072 a0001c0003t0002g0181 a0001c0003t0004g0108 others(1): Show a0001c0003t0002g0072 a0001c0003t0002g0181 a0001c0003t0004g0108 a0009c0015t0012g0027	4	212	0.0189	174	c.111 others(191): Show c.1111-783_1111-782insACTCTCACTCACGATCTCACTCACGATG AAGCGCCATCTATCTGCCTGGCCTCCTCTAACTCTCACTCACGATCTCAC TCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCAC GATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTA	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432031	C C	CGTGAGTG others(167): Show CGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTG AGTGAGATCGTGAGTGAGAGATAGAGGAGGCGGGGCAGATAGATGGCGCT TCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCGGGGCAGATAG ATGGCGCTTCATCGTGAGTGAGATA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0019 a0001c0006t0002g0019	1	212	0.0047	174	c.111 others(193): Show c.1111-1285_1111-1284insTATCTCACTCACGATGAAGCGCCATC TATCTGCCCCGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAA GCGCCATCTATCTGCCCCGCCTCCTCTATCTCTCACTCACGATCTCACTC ACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCAC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432205	C C	CGTGAGTG others(167): Show CGTGAGTGAGAGATAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTG AGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCT TCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCGGGGCAGATAG ATGGCGCTTCATCGTGAGTGAGATA	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA18906.hp1 HG03209.hp2 NA18906.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0020 a0001c0006t0001g0024 a0001c0006t0001g0020 a0001c0006t0001g0024	2	212	0.0094	174	c.111 others(193): Show c.1111-1459_1111-1458insTATCTCACTCACGATGAAGCGCCATC TATCTGCCCCGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAA GCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCACTCACGATCTCACTC ACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCTATCTCTCACTCAC	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	459325	C C	CCAGCGTA others(167): Show CCAGCGTAGGGGGAAGGACCCCTCTCAACTCAGTGTAGGGGGAAGGACCC CACTGAACACAGCGTAAGGGGAAGGACCCCACTGAACCCAGCGTAGGGGG AAGGACCCCACTGAACCCAGCGTAGGGGGAAGGACCCCACTGAACCCAGA GTAGGGGGAAGGACCCCACTGAACT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp2 others(11): Show HG00099.hp1 HG00099.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG01099.hp2 HG01943.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG06807.hp1 NA18906.hp1 NA20752.hp2 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0006 a0001c0014 a0001c0005 a0001c0006 a0001c0014	a0001c0005t0001 a0001c0005t0005 a0001c0005t0006 others(4): Show a0001c0005t0001 a0001c0005t0005 a0001c0005t0006 a0001c0006t0001 a0001c0006t0002 a0001c0006t0006 a0001c0014t0001	a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0005t0001g0017 others(11): Show a0001c0005t0001g0015 a0001c0005t0001g0016 a0001c0005t0001g0017 a0001c0005t0001g0022 a0001c0005t0001g0025 a0001c0005t0005g0026 a0001c0005t0006g0010 a0001c0006t0001g0020 a0001c0006t0001g0023 a0001c0006t0001g0024 a0001c0006t0002g0018 a0001c0006t0002g0019 a0001c0006t0006g0014 a0001c0014t0001g0021	14	212	0.0660	174	c.468 others(191): Show c.468+1203_468+1204insAGTTCAGTGGGGTCCTTCCCCCTACTCT GGGTTCAGTGGGGTCCTTCCCCCTACGCTGGGTTCAGTGGGGTCCTTCCC CCTACGCTGGGTTCAGTGGGGTCCTTCCCCTTACGCTGTGTTCAGTGGGG TCCTTCCCCCTACACTGAGTTGAGAGGGGTCCTTCCCCCTACGCTG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHC2_chr19_411589_466033	459325	C C	CCAGCGTA others(167): Show CCAGCGTAGGGGGAAGGACCCCTCTCAACTCAGTGTAGGGGGAAGGACCC CACTGAACACAGCGTAAGGGGAAGGACCCCACTGAACCCAGCGTAGGGGG AAGGACCCCACTGAACCCAGCGTAGGGGGAAGGACCCCACTGAACCCAGC GTAGGGGGAAGGACCCCACTGAACT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0011 a0001c0005t0001g0011	1	212	0.0047	174	c.468 others(191): Show c.468+1203_468+1204insAGTTCAGTGGGGTCCTTCCCCCTACGCT GGGTTCAGTGGGGTCCTTCCCCCTACGCTGGGTTCAGTGGGGTCCTTCCC CCTACGCTGGGTTCAGTGGGGTCCTTCCCCTTACGCTGTGTTCAGTGGGG TCCTTCCCCCTACACTGAGTTGAGAGGGGTCCTTCCCCCTACGCTG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	1/12			chr19	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(167): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCCTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0009 a0001c0004t0009	a0001c0004t0009g0072 a0001c0004t0009g0072	1	214	0.0047	174	c.691 others(193): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(167): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0153 a0001c0001t0002g0153	1	214	0.0047	174	c.691 others(193): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIMC1_chr5_176233424_176350989	176305678	C C	CGGCAGCT others(167): Show CGGCAGCTGCCCGGTCTGAGAAGTGAGGAGCCTCTCCGCCCGGCAGCCAC CCCATCTGGGAAGTGAGGAGCGTCTCCGCCCGGCAGCCACCCCGTCCGGG AGGGAGATGGGGGGTCAGCCCCGACGCCCGGCCAGCCGTGCCATCCGGGG GGGGGGGGGGGTCAGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	360	0.0028	174	c.173 others(193): Show c.1735-8010_1735-8009insAGCTGCCCGGTCTGAGAAGTGAGGAG CCTCTCCGCCCGGCAGCCACCCCATCTGGGAAGTGAGGAGCGTCTCCGCC CGGCAGCCACCCCGTCCGGGAGGGAGATGGGGGGTCAGCCCCGACGCCCG GCCAGCCGTGCCATCCGGGGGGGGGGGGGGGTCAGCCCCCCGCCTGGC	SIMC1	ENSG00000170085.18	transcript	ENST00000429602.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLAIN1_chr13_77692687_77769229	77704055	G G	GTGTATAT others(167): Show GTGTATATATACACATATAAAACATATGTATATATATTTTATATGTGTAT ATATACACATATAAAATATATATACATATGTTTTATATGTGTATATATAC ACATATAAAATATATATACATATGTTTTATATGTGTATATATACACATAT AAAATATATATACATATGTTTTCTA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0082 a0001c0001t0006g0082	1	300	0.0033	174	c.626 others(191): Show c.626+5517_626+5518insGTATATATACACATATAAAACATATGTA TATATATTTTATATGTGTATATATACACATATAAAATATATATACATATG TTTTATATGTGTATATATACACATATAAAATATATATACATATGTTTTAT ATGTGTATATATACACATATAAAATATATATACATATGTTTTCTAT	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC12A1_chr15_48201302_48309078	48270760	A A	ATATATAT others(167): Show ATATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGT GTGTGTGTATATATATATATATATATATATATATATATATATTTATACAC ACATATATATACATACACATATATATATACACACACACACAGAGTTTTGG AGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0157	1	266	0.0038	174	c.240 others(193): Show c.2402+1008_2402+1009insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATATATATATATATA TATTTATACACACATATATATACATACACATATATATATACACACACACA CAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270764	A A	ATATATAC others(167): Show ATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGTGT GTATATATATATATATATATATATATATATATATATATATATTTATACAC ACATATATATACATACACATATATATATACACACACACACAGAGTTTTGG AGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0029 a0001c0001t0002g0030	2	266	0.0075	174	c.240 others(193): Show c.2402+1006_2402+1007insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTATATATATATATATATATATATATATATATA TATATATATTTATACACACATATATATACATACACATATATATATACACA CACACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(167): Show ATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGT GTGTGTGTATATATATATATATATATATATATATATATATATTTATACAC ACATATATATACATACACATATATATATACACACACACACAGAGTTTTGG AGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp2 HG01928.hp1 others(6): Show HG00673.hp2 HG01243.hp2 HG01928.hp1 HG01934.hp1 HG02004.hp2 HG02055.hp1 HG03209.hp1 NA18522.hp2 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0080 a0001c0001t0001g0133 a0001c0001t0001g0143 others(6): Show a0001c0001t0001g0080 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0171 a0001c0001t0001g0200 a0001c0001t0001g0218 a0001c0001t0002g0006 a0001c0001t0002g0041 a0001c0001t0011g0188	9	266	0.0338	174	c.240 others(193): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA TATATATTTATACACACATATATATACATACACATATATATATACACACA CACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(167): Show ATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGT GTGTGTGTGTATATATATATATATATATATATATATATATATTTATACAC ACATATATATACATACACATATATATATACACACACACACAGAGTTTTGG AGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02965.hp1 NA18949.hp1 others(1): Show HG00597.hp1 HG02965.hp1 NA18949.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0167 a0001c0001t0002g0231 others(1): Show a0001c0001t0002g0093 a0001c0001t0002g0167 a0001c0001t0002g0231 a0001c0001t0002g0251	4	266	0.0150	174	c.240 others(193): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA TATATATTTATACACACATATATATACATACACATATATATATACACACA CACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(167): Show ATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGTGTGT GTGTGTGTGTGTATATATATATATATATATATATATATATATTTATACAC ACATATATATACATACACATATATATATACACACACACACAGAGTTTTGG AGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0257 a0001c0001t0002g0257	1	266	0.0038	174	c.240 others(193): Show c.2402+1010_2402+1011insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATA TATATATTTATACACACATATATATACATACACATATATATATACACACA CACACAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A1_chr15_48201302_48309078	48270766	A A	ATATATAT others(167): Show ATATATATATATACTCTAAGTATTATATATTATATACTCCAAAACTGTGT GTGTGTGTGTGTATATATATATATATATATATATATATATATTTATACAC ACATATATATACATACACATATATATATACACACACACACAGAGTTTTGG AGTATATAATATATAATACTTAGAG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA19075.hp1 NA18955.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0063 a0001c0001t0001g0124 a0001c0001t0001g0063 a0001c0001t0001g0124	2	266	0.0075	174	c.240 others(193): Show c.2402+1014_2402+1015insCTCTAAGTATTATATATTATATACTC CAAAACTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA TATTTATACACACATATATATACATACACATATATATATACACACACACA CAGAGTTTTGGAGTATATAATATATAATACTTAGAGTATATATATATA	SLC12A1	ENSG00000074803.21	transcript	ENST00000380993.8	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr15	TogoVar
SLC12A7_chr5_1045384_1117063	1070414	G G	GGCATCAC others(167): Show GGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGGCATCAC ACTTATGCAGCCCCCAGTGAGCCCCCAGCACACGGCATCACACTTATGCA GCCCCAGTGAGCCCCCAGCACACGGGCATCACACTTATGCAGCCCCAGTG AGCCCCCAGTGAGCCCCCAGCACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0005 a0001c0010t0005	a0001c0010t0005g0025 a0001c0010t0005g0025	1	118	0.0085	174	c.224 others(193): Show c.2241+3218_2241+3219insGTGTGCTGGGGGCTCACTGGGGGCTC ACTGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTCACTGGGGCT GCATAAGTGTGATGCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTG TGATGCCCGTGTGCTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGC	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC1A2_chr11_35246205_35424558	35248725	C C	CAGGTGAT others(167): Show CAGGTGATTACTAGTGCTACATGGATCACCAGGGGATTACTAGTGGTGCA TGGATCACCAGGTGATTACTAGTGCTACATGGATCACCAGGGGATTACTA GTGGTGCATGGATCACCAGGTGATTACTAGTGCTACATGGATCACCAGGG GATTACAAGCGGTGTATGGATCACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp1 others(75): Show HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00738.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01169.hp2 HG01255.hp1 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01928.hp2 HG02040.hp1 HG02040.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02258.hp2 HG02293.hp1 HG02523.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG03041.hp1 HG03130.hp2 HG03225.hp1 HG03516.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18945.hp2 NA18950.hp1 NA18955.hp1 NA18960.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp2 NA18981.hp2 NA18988.hp2 NA18990.hp1 NA18991.hp2 NA18998.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19003.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp2 NA19064.hp2 NA19066.hp2 NA19077.hp2 NA19078.hp2 NA19081.hp2 NA19083.hp2 NA19086.hp1 NA19091.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0010 a0001c0012	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(19): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0018 a0001c0001t0019 a0001c0001t0025 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0050 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0076 a0001c0001t0085 a0001c0002t0003 a0001c0002t0009 a0001c0002t0061 a0001c0003t0021 a0001c0008t0003 a0001c0010t0003 a0001c0012t0009	a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0031 others(75): Show a0001c0001t0002g0020 a0001c0001t0002g0024 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0044 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0058 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0089 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0003g0108 a0001c0001t0003g0111 a0001c0001t0003g0115 a0001c0001t0003g0122 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0136 a0001c0001t0003g0137 a0001c0001t0003g0138 a0001c0001t0003g0140 a0001c0001t0003g0144 a0001c0001t0003g0151 a0001c0001t0003g0161 a0001c0001t0003g0163 a0001c0001t0003g0169 a0001c0001t0003g0175 a0001c0001t0003g0178 a0001c0001t0003g0195 a0001c0001t0003g0199 a0001c0001t0009g0229 a0001c0001t0009g0248 a0001c0001t0009g0257 a0001c0001t0009g0259 a0001c0001t0009g0260 a0001c0001t0009g0261 a0001c0001t0009g0262 a0001c0001t0009g0271 a0001c0001t0018g0142 a0001c0001t0018g0145 a0001c0001t0018g0191 a0001c0001t0019g0131 a0001c0001t0019g0192 a0001c0001t0019g0193 a0001c0001t0025g0099 a0001c0001t0025g0101 a0001c0001t0039g0066 a0001c0001t0040g0103 a0001c0001t0041g0106 a0001c0001t0050g0013 a0001c0001t0062g0143 a0001c0001t0063g0171 a0001c0001t0064g0166 a0001c0001t0076g0207 a0001c0001t0085g0284 a0001c0002t0003g0149 a0001c0002t0009g0227 a0001c0002t0061g0116 a0001c0003t0021g0211 a0001c0008t0003g0200 a0001c0010t0003g0167 a0001c0012t0009g0255	78	306	0.2549	174	c.12 others(187): Show c.12168_*12169insAGTGATCCATACACCGCTTGTAATCCCCTGGT GATCCATGTAGCACTAGTAATCACCTGGTGATCCATGCACCACTAGTAAT CCCCTGGTGATCCATGTAGCACTAGTAATCACCTGGTGATCCATGCACCA CTAGTAATCCCCTGGTGATCCATGTAGCACTAGTAATCACCT	SLC1A2	ENSG00000110436.13	transcript	ENST00000278379.9	protein_coding		2479		chr11	TogoVar
SLC25A41_chr19_6421037_6438763	6429100	T T	TATATATA others(167): Show TATATATAATATATATATTATATATATGTTATATATATATATAATATATA TATTATATATATGTTACATATATATAATATATATATTATATATGTTATAT ATATATTACATATATATAATATATATATTATATATATGTTACATATATAT AATATATATATTATATATATGTTAC	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01346.hp1 HG01358.hp1 HG01106.hp2 HG01346.hp1 HG01358.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0011 a0001c0001 a0011c0011	a0001c0001t0001 a0011c0011t0001 a0001c0001t0001 a0011c0011t0001	a0001c0001t0001g0132 a0001c0001t0001g0230 a0011c0011t0001g0244 a0001c0001t0001g0132 a0001c0001t0001g0230 a0011c0011t0001g0244	3	350	0.0086	174	c.624 others(189): Show c.624+623_624+624insGTAACATATATATAATATATATATTATATA TATGTAACATATATATAATATATATATTATATATATGTAATATATATATA ACATATATAATATATATATTATATATATGTAACATATATATAATATATAT ATTATATATATATATAACATATATATAATATATATATTATATAT	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC35F1_chr6_117902264_118322671	117923680	T T	TATGTACA others(167): Show TATGTACACATATACATATGTATATATACATATGTACATATGTACATATA TACATATGTATATATACATATATGTACATATGTACATATATGTATATATA CATATATACATATGTATATATATACATATATGTACATATGTACATATATA CATATACATATATGTACATATACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0091 a0001c0001t0009g0091	1	182	0.0055	174	c.173 others(193): Show c.173+15783_173+15784insGTACACATATACATATGTATATATAC ATATGTACATATGTACATATATACATATGTATATATACATATATGTACAT ATGTACATATATGTATATATACATATATACATATGTATATATATACATAT ATGTACATATGTACATATATACATATACATATATGTACATATACACAT	SLC35F1	ENSG00000196376.11	transcript	ENST00000360388.9	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SLC37A3_chr7_140328752_140403530	140362568	C C	CGGCCAGC others(167): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGCCT GGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCC TACCGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGTCAGCCCCCCGCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00673.hp1 others(49): Show HG00140.hp1 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02683.hp1 HG02735.hp1 HG03041.hp2 HG03139.hp1 HG03209.hp2 HG03579.hp2 HG03704.hp2 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18939.hp2 NA18942.hp2 NA18962.hp2 NA18986.hp1 NA18995.hp2 NA19000.hp1 NA19004.hp1 NA19010.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19056.hp1 NA19064.hp2 NA19075.hp2 NA19079.hp2 NA19081.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0005 a0001c0017 others(2): Show a0001c0001 a0001c0005 a0001c0017 a0001c0019 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0005t0002 a0001c0005t0019 a0001c0005t0020 a0001c0017t0001 a0001c0019t0001 a0005c0010t0001	a0001c0001t0001g0004 a0001c0001t0001g0096 a0001c0001t0001g0097 others(46): Show a0001c0001t0001g0004 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0116 a0001c0001t0001g0125 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0165 a0001c0001t0001g0249 a0001c0001t0001g0256 a0001c0001t0002g0002 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0124 a0001c0001t0002g0133 a0001c0001t0002g0137 a0001c0001t0002g0155 a0001c0001t0002g0253 a0001c0001t0005g0003 a0001c0001t0005g0120 a0001c0001t0005g0161 a0001c0001t0006g0126 a0001c0001t0006g0127 a0001c0001t0006g0128 a0001c0001t0006g0129 a0001c0001t0006g0130 a0001c0001t0006g0131 a0001c0001t0006g0171 a0001c0001t0006g0172 a0001c0005t0002g0239 a0001c0005t0002g0241 a0001c0005t0019g0243 a0001c0005t0020g0184 a0001c0017t0001g0136 a0001c0019t0001g0142 a0005c0010t0001g0134	52	346	0.1503	174	c.375 others(191): Show c.375+1839_375+1840insAGGCGGGGGGCTGACCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTCACTTCCCGGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGGCCAGG CGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	5/14			chr7	TogoVar
SLC39A12_chr10_17946918_18048285	18041721	A A	ATATATGT others(167): Show ATATATGTATATATATGTATATACATATGTATATATGTGTATATATATGT ATATACATATGTATATGTGTATATATATGTATATACATATGTATATATGT GTATATATATGTATATACATATGTATATATGTGTATATATATGTATATAC ATATGTATATATGTGTATATATATG	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0003 a0006c0011t0003	a0006c0011t0003g0201 a0006c0011t0003g0201	1	368	0.0027	174	c.194 others(191): Show c.1948-977_1948-976insATATATATGTATATACATATGTATATAT GTGTATATATATGTATATACATATGTATATGTGTATATATATGTATATAC ATATGTATATATGTGTATATATATGTATATACATATGTATATATGTGTAT ATATATGTATATACATATGTATATATGTGTATATATATGTATATGT	SLC39A12	ENSG00000148482.12	transcript	ENST00000377369.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr10	TogoVar
SLC5A12_chr11_26662020_26727060	26680283	T T	TTATATAT others(167): Show TTATATATATGTATATATATTCATATATATATGTATATATATTCATATAT ATGTATATATATTCATATATATATGAATATATATTCATATATATATGTAT ATATATTCATATATATATGTATATATATTCATATATATGTATATATATTC ATATATATATATGTATATATATTCA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0069 a0003c0020t0069	a0003c0020t0069g0041 a0003c0020t0069g0041	1	412	0.0024	174	c.147 others(191): Show c.1475+771_1475+772insTGAATATATATACATATATATATATGAA TATATATACATATATATGAATATATATACATATATATATGAATATATATA CATATATATATGAATATATATTCATATATATATGAATATATATACATATA TATGAATATATATACATATATATATGAATATATATACATATATATA	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	12/14			chr11	TogoVar
SLC8A1_chr2_40092270_40457090	40200177	T T	TATATATA others(167): Show TATATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATATAAATATATATATATATTTATATATATATAAATATATATATA TATTTATATATATATAAATATATATATATATTTATATATATATAAATATA TATATATATTTATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0133 a0001c0001t0133	a0001c0001t0133g0206 a0001c0001t0133g0206	1	236	0.0042	174	c.180 others(195): Show c.1809-21685_1809-21684insTTATATATATATATAAATATATAT ATATATTTATATATATATAAATATATATATATATTTATATATATATAAAT ATATATATATATTTATATATATATAAATATATATATATATTTATATATAT ATATAAATATATATATATATTTATATATATATATAAATATATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200177	T T	TATATATA others(167): Show TATATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATATAAATATATATATATATTTATATATATATAAATATATATATA TATTTATATATATATATAAATATATATATATATTTATATATATATAAATA TATATATATATTTATATATATATAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0119 a0001c0001t0039g0119	1	236	0.0042	174	c.180 others(195): Show c.1809-21685_1809-21684insTTATATATATATAAATATATATAT ATATTTATATATATATAAATATATATATATATTTATATATATATATAAAT ATATATATATATTTATATATATATAAATATATATATATATTTATATATAT ATATAAATATATATATATATTTATATATATATATAAATATATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar

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