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
PKHD1_chr6_51610299_52092613	51981304	G G	GCTCCCCC others(210): Show GCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCTCCCTCTCCG GTACAGAGCCCTTTTAGAGAGGCTCCAAAGCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCC	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0020 a0020	a0020c0045 a0020c0045	a0020c0045t0001 a0020c0045t0001	a0020c0045t0001g0036 a0020c0045t0001g0036	1	134	0.0075	217	c.575 others(238): Show c.5752-21279_5752-21278insGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGCTTTGGAGCCTCTCTAAAAGGGCTCTGTACCGGAGA GGGAGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG	PKHD1	ENSG00000170927.15	transcript	ENST00000371117.8	protein_coding	35/66			chr6	TogoVar
PKP3_chr11_389209_409908	401321	G G	GCCCCGCT others(210): Show GCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCCC CGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCG CTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTC ACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCC CGGCCCGCTCACACCCGC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0006 a0006	a0006c0031 a0006c0031	a0006c0031t0001 a0006c0031t0001	a0006c0031t0001g0167 a0006c0031t0001g0167	1	216	0.0046	217	c.173 others(234): Show c.1737+619_1737+620insCGCTCACACCCGCCCCGCTCACCCCCGG CCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGC TCACCCCCGGCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCAC ACCCGCCCCGCTCACCCCCGGCCCGCTCACACCCGCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CCAACCCC others(210): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAAACCCCGGGAACCGCCTC CCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCC GGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCC CCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18967.hp1 NA18967.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0055 a0001c0007t0001g0055	1	422	0.0024	217	c.29 others(228): Show c.2901_*2902insCAACCCCGGGAACCGCCTGCCCCCGCCACCAAAC CCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCAC TCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGA ACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1612		chr1	TogoVar
PLEKHN1_chr1_961482_980865	977476	C C	CCAACCCC others(210): Show CCAACCCCGGGAACCGCCTGCCCCCGCCACCAACCCCGGGAACCGCCTCC CACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCG GGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCC CCCCACCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAAC CGCCTCCCACTCCCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	422	0.0024	217	c.29 others(228): Show c.2901_*2902insCAACCCCGGGAACCGCCTGCCCCCGCCACCAACC CCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAACCGCCTCCCACT CCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGGAA CCGCCTCCCACTCCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCCC CGCAACCCCGGGAACCGCCTCCCACTCCCCCCG	PLEKHN1	ENSG00000187583.11	transcript	ENST00000379410.8	protein_coding		1612		chr1	TogoVar
PPP1R7_chr2_241145467_241188652	241187727	C C	CAGGAGGA others(210): Show CAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGGAAGAGGAGAGGGAGA AGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAGTGGGGAGAAAGGAGA AGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACGATAGGAGGA GGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAGAGGGAGAAGTGGGGG GGGAGGGGGAGAAACGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp2 HG03225.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0102 a0001c0001t0006g0106 a0001c0001t0006g0102 a0001c0001t0006g0106	2	396	0.0051	217	c.49 others(228): Show c.4904_*4905insAGGAGGAGGGGAGTGGGGAGAAAGGAGGAGAAGG AAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGAGAAACAGGAGGAGGGGAG TGGGGAGAAAGGAGAAGGAAGAGGAGAGGGAGAAGTGGGGGGGAGGGGGA GAAACGATAGGAGGAGGGGGAGTGGGGAGAAAGAGGAGGAGGAAGAGGAG AGGGAGAAGTGGGGGGGGAGGGGGAGAAACGAT	PPP1R7	ENSG00000115685.15	transcript	ENST00000234038.11	protein_coding		4076		chr2	TogoVar
PRKN_chr6_161342417_162732766	161350586	A A	AATATATT others(210): Show AATATATTTTTATATATTTATATTTAAAATATATATATTTTTATATATTT ATATTTAAAATATATATATTTTTATATATTTATATTTAAAATATATATAT TTTTATATATTTATATTTAAAATATATATATTTTTATATATTTATATTTA AAATATATATATTTTTATATATTTATATTTAAAATATATATATTTTTATA TATTTATATTTAAAATAT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02976.hp1 HG02922.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0003 a0001c0001t0003 a0001c0003t0003	a0001c0001t0003g0021 a0001c0003t0003g0027 a0001c0001t0003g0021 a0001c0003t0003g0027	2	32	0.0625	217	c.128 others(234): Show c.1286-592_1286-376dupATATTTTAAATATAAATATATAAAAATA TATATATTTTAAATATAAATATATAAAAATATATATATTTTAAATATAAA TATATAAAAATATATATATTTTAAATATAAATATATAAAAATATATATAT TTTAAATATAAATATATAAAAATATATATATTTTAAATATAAATATATAA AAATATATATATTTTAAATATAAATATATAAAAATATAT	PRKN	ENSG00000185345.25	transcript	ENST00000366898.6	protein_coding	11/11			chr6	TogoVar
PTPRG_chr3_61556571_62302609	61885680	T T	TCCTCTCC others(210): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCACTCCTC CCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCTGCTC CCCTCTCCTCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCCCCTC TCCCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCCCTCC CCCTCCCTCCTCCCCTCC	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0023 a0001c0001t0003g0023	1	94	0.0106	217	c.191 others(238): Show c.191-103924_191-103923insCTCTCCTCTCCTCTCCTCTCCACT CCTCCCCTCCCCTCCCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTCCTCT GCTCCCCTCTCCTCCCCCCCCTCCCCTCCCCTCCCCTCCTGTCCCCCTCC CCTCTCCCCTCCCCCTCCCCCTACCCTCACCCTCCCTCCTCCCCCCTCCC CTCCCCCTCCCTCCTCCCCTCCCCTCTCCTCTCCTCTCCTCTC	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	61987705	T T	TAAAATTC others(210): Show TAAAATTCCTATTTTGTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC CGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03225.hp2 HG03098.hp1 HG03225.hp2	a0003 a0008 a0003 a0008	a0003c0013 a0008c0009 a0003c0013 a0008c0009	a0003c0013t0001 a0008c0009t0002 a0003c0013t0001 a0008c0009t0002	a0003c0013t0001g0004 a0008c0009t0002g0032 a0003c0013t0001g0004 a0008c0009t0002g0032	2	94	0.0213	217	c.191 others(234): Show c.191-1905_191-1904insTACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAATTCCTATTTTG	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
RAB11FIP3_chr16_420649_528011	492419	G G	GGCCCTCC others(210): Show GGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCTCCCCGGGAGACCC GAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTC CCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCG CCCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGA GACCCGAGGCCGTCCAGA	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	295	0.0034	217	c.126 others(236): Show c.1265+3455_1265+3456insCCCCGGGAGACCCGAGGCCGCCCAGA GCCCTTCCCGGGAGACCCGAGGCCGTCCAGAGCCCTCCCCGGGAGACCCG AGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGCCCAGAGCCCTCC CCGGGAGACCCGAGGCCGCCCAGAGCCCTTCCCGGGAGACCCGAGGCCGT CCAGAGCCCTCCCCGGGAGACCCGAGGCCGCCCAGGGCCCT	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	5/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB40C_chr16_585066_634268	591004	A A	AGGAAGGT others(210): Show AGGAAGGTGTCATGGGTCTAGGATCATCTGGGGTCCGAGGAAAGGTGTCA TAGATCTGGGGGAAGGCATCATGGTCCTAAGGGAAGCTGTCATGGGTCTG GGATCATCTGGGGTCCGAGGGAAGGTGTCATAGATCTGGGGAAAGGTGTC ATGGGTCTGGGATCTCAGGGGAAGGTGTCATGGGCCTAAGGGAAGGTGTC ATGGTCTGGGATCTCAGG	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02148.hp2 NA18973.hp2 HG01993.hp2 HG02148.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0032 a0001c0001t0002 a0001c0001t0032	a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0032g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0032g0020	3	350	0.0086	217	c.142 others(232): Show c.142+606_142+822dupCGAGGAAAGGTGTCATAGATCTGGGGGAAG GCATCATGGTCCTAAGGGAAGCTGTCATGGGTCTGGGATCATCTGGGGTC CGAGGGAAGGTGTCATAGATCTGGGGAAAGGTGTCATGGGTCTGGGATCT CAGGGGAAGGTGTCATGGGCCTAAGGGAAGGTGTCATGGTCTGGGATCTC AGGGGAAGGTGTCATGGGTCTAGGATCATCTGGGGTC	RAB40C	ENSG00000197562.10	transcript	ENST00000248139.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAC2_chr22_37220270_37249269	37227256	A A	ACTCCTCC others(210): Show ACTCCTCCCATGCCTCCCATGCCATACAAGCCCTCCTGTGCCATACACAC CCCTCCCACGCCATACACCCCCCTCCCACGCCTCCCACACCATACAAGCC CTCCCGTGCCATACACCCCTCCCACAGCATATAACCCCTCCCACGCCATA CAACCCCTCCCACGCCATACACCCTCCCATACCCCTCCCACGCCATACAA CCCTCCCATGACATACAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 NA19240.hp1 NA21309.hp2 HG03098.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0008 a0001c0005 a0001c0008	a0001c0005t0003 a0001c0008t0003 a0001c0005t0003 a0001c0008t0003	a0001c0005t0003g0121 a0001c0005t0003g0134 a0001c0008t0003g0217 a0001c0005t0003g0121 a0001c0005t0003g0134 a0001c0008t0003g0217	3	448	0.0067	217	c.449 others(232): Show c.449-454_449-453insCTGTATGTCATGGGAGGGTTGTATGGCGTG GGAGGGGTATGGGAGGGTGTATGGCGTGGGAGGGGTTGTATGGCGTGGGA GGGGTTATATGCTGTGGGAGGGGTGTATGGCACGGGAGGGCTTGTATGGT GTGGGAGGCGTGGGAGGGGGGTGTATGGCGTGGGAGGGGTGTGTATGGCA CAGGAGGGCTTGTATGGCATGGGAGGCATGGGAGGAG	RAC2	ENSG00000128340.16	transcript	ENST00000249071.11	protein_coding	5/6			chr22	TogoVar
RASA3_chr13_113972783_114137623	114099635	C C	CCCCCCAC others(210): Show CCCCCCACAGCAGCCCCCCCACAGCCCCCACACAGCCCCCCCACAGCCCC CCACAGCCCCCCCAGCAGCCCCCACAGCAGCCCCCCCACAGCCCCCACAC AGCCCCCCACAGCCCCCCCCACAGCAGCCCCCCCACAGCCCCCACACAGC CCCCACAGCAGCCCCCCCACAGCCCCCCCAGCAGCCCCCACAGCAGCCCC CCCACAGCCCCCACACAG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0062 a0001c0002t0002g0062	1	67	0.0149	217	c.56- others(234): Show c.56-25799_56-25798insCTGTGTGGGGGCTGTGGGGGGGCTGCTG TGGGGGCTGCTGGGGGGGCTGTGGGGGGGCTGCTGTGGGGGCTGTGTGGG GGCTGTGGGGGGGCTGCTGTGGGGGGGGCTGTGGGGGGCTGTGTGGGGGC TGTGGGGGGGCTGCTGTGGGGGCTGCTGGGGGGGCTGTGGGGGGCTGTGG GGGGGCTGTGTGGGGGCTGTGGGGGGGCTGCTGTGGGGG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RBPMS_chr8_30379541_30577256	30388398	G G	GCTTATAA others(210): Show GCTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTAT AGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATA ACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03225.hp1 HG02257.hp2 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0011 a0001c0001t0002 a0002c0002t0011	a0001c0001t0002g0302 a0002c0002t0011g0303 a0001c0001t0002g0302 a0002c0002t0011g0303	2	304	0.0066	217	c.66+ others(232): Show c.66+3267_66+3483dupGCTAACTTATAACTTATAGCTATAGCTATA AGCTAACTTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATA GCTATAGCTATAAGCTAACTTATAACTTATAGCTATAGCTATAAGCTAAC TTATAACTTATAGCTATAGCTATAAGCTAACTTATAACTTATAGCTATAG CTATAAGCTAACTTATAACTTATAGCTATAGCTATAA	RBPMS	ENSG00000157110.16	transcript	ENST00000397323.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
RFC1_chr4_39282456_39371362	39348456	A A	AAGAAGAG others(210): Show AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAGAAGAGAAGAGAAAGAAGAAGAGAAGAGAAGAG AAGAGAAGAGAAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAGAG AAGAGAAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA GAGAAGAGAAGAGAAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	276	0.0036	217	c.132 others(234): Show c.132+2891_132+2892insCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTTCTCTTCTCTCTCTTC TCTTCTCTTCTCTTCTCTTCTCTTCTCTTTCTCTTCTCTTCTCTTCTCTT CTCTTCTTCTTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTC TTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCTCTTCT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RFC1_chr4_39282456_39371362	39348456	A A	AAGGAAAG others(210): Show AAGGAAAGGGACGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGG AAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAA AGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAG GGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAGGGAAGGGAA GGGAAGGGAAGGAAAGGG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0251 a0001c0002t0002g0251	1	276	0.0036	217	c.132 others(234): Show c.132+2891_132+2892insCCCTTTCCTTCCCTTCCCTTCCCTTCCC TTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTT CCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCT TTCCCTTTCCCTTTCCCTTTCCCTTTCCGTCCCTTTCCT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RIN2_chr20_19753258_20007456	19924535	T T	TTCATACC others(210): Show TTCATACCCTCACCTTCATACCCTCACCTCCATACCCCACCTTCATACCC CACCTCCATACCCCACCTCCATACCCCACCTTCCTACCCCCACCTTCATA CCCTCACCTTCATACCCCCACCTTCATACCCCACCTTCATACCCCCACCT TCATACCCTCACCTTCATACCCCCACCTTCATACCCCCACCTTCATACCC TCACCTTCATAACCTCAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0126 a0002c0003t0007g0126	1	276	0.0036	217	c.58- others(234): Show c.58-10564_58-10563insTCATACCCTCACCTTCATACCCTCACCT CCATACCCCACCTTCATACCCCACCTCCATACCCCACCTCCATACCCCAC CTTCCTACCCCCACCTTCATACCCTCACCTTCATACCCCCACCTTCATAC CCCACCTTCATACCCCCACCTTCATACCCTCACCTTCATACCCCCACCTT CATACCCCCACCTTCATACCCTCACCTTCATAACCTCAC	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	3/12			chr20	TogoVar
RIPOR3_chr20_50581108_50696542	50666183	A A	ATTTCTTT others(210): Show ATTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	280	0.0036	217	c.3+2 others(232): Show c.3+24942_3+24943insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RPA3_chr7_7631518_7723607	7679638	A A	ATTTATAG others(210): Show ATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAATATATA TTTATATATTTAATTTATAGATAAATATATATTTATATATTTAATTTATA GATAAATATATATTTATATATTTAATTTATAGATAAATATATATTTATAT ATTTAATTTATAGATAAATATATATTTATATATTTAATTTATAGATAAAT ATATATTTATATATTTAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	308	0.0033	217	c.-75 others(236): Show c.-758+6191_-758+6192insCTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATCTATAAATTAAATATATAAAT ATATATTTATCTATAAATTAAATATATAAATATATATTTATCTATAAATT AAATATATAAATATATATTTATCTATAAATTAAATATATAAATATATATT TATCTATAAATTAAATATATAAATATATATTTATCTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RTP5_chr2_241864729_241878823	241878676	C C	CCCTGAGC others(210): Show CCCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCACACCTGAGCTCTCAT CTGAGGCTGCACCTGAGCCCACACCTGAGCCCTCATCTGAGGTTGCACCT GAGCCCTCCCCTGAGCTCTCGTCTGAGGCTGCACCTGAAGCCCACACCTG AGCTCTCGTCTGAGGCTGCACCTGAGCCCACACCTGAGCTCTCGTCTGAG GCTACACCTGAGCCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0036 a0002c0002t0036	a0002c0002t0036g0002 a0002c0002t0036g0002	1	365	0.0027	217	c.54 others(228): Show c.5402_*5403insCCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCA CACCTGAGCTCTCATCTGAGGCTGCACCTGAGCCCACACCTGAGCCCTCA TCTGAGGTTGCACCTGAGCCCTCCCCTGAGCTCTCGTCTGAGGCTGCACC TGAAGCCCACACCTGAGCTCTCGTCTGAGGCTGCACCTGAGCCCACACCT GAGCTCTCGTCTGAGGCTACACCTGAGCCCACA	RTP5	ENSG00000188011.5	transcript	ENST00000343216.3	protein_coding		4854		chr2	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(210): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGCGCCCGCCCGCC CGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCC CCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCC CCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCC CGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0252 a0001c0003t0002g0252	1	376	0.0027	217	c.-58 others(224): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCCCACCCCGC GCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGC GCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCGC GCCCGCCCGCCCCCACCCCGCGCGCGCCCGCCCGCCCCCACCCCGCGCCC GCCCGCCCGCCCGCCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RXRA_chr9_134321455_134445585	134444377	C C	CCCTCCTT others(210): Show CCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTTCCTTCCCTCT CCCTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCCCCTCCCTCCTT CCCCCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCTTCCCCCTCCCTCCTC CCTTCCCCCTCCTCCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCCTCCTT CCCCCTCCCTCCTTCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02970.hp1 HG02896.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0133 a0001c0001t0004g0225 a0001c0001t0004g0133 a0001c0001t0004g0225	2	232	0.0086	217	c.77 others(228): Show c.7763_*7764insCCTCCTTCCCCCTCCCTCCTTCCTTCCCTCTCCC TCCTTCCTTCCCTCTCCCTCCTTCCCTCTCCCTCCTTCCCCCTCCCTCCT TCCCCCTCCCTCCTTCCCCCTCCCTCCTCCCTTCCCCCTCCCTCTTCCCT TCCCCCTCCCTCCTCCCTTCCCCCTCCTCCCTTCCCCCTCCCTCCTTCCT TCCCTCTCCCTCCTTCCCCCTCCCTCCTTCCTT	RXRA	ENSG00000186350.12	transcript	ENST00000481739.2	protein_coding		3793		chr9	TogoVar
SARDH_chr9_133658560_133743352	133668520	T T	TCACCCTC others(210): Show TCACCCTCCCTCTCCCCTCACCCTCCCTCTCCCCTCGCCCTCCCTCTCCC TCACCCTCATCCTCCCTCTCCCTCACCCTCCCTCTCCCCTCACCCTCCCT CTCCCTCACCCTCCCTCTCCCCTCATCCTCCCTCTCCCTCACCCTCCCTC TCCCCTTACCCTCCCCCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCT CCCCTCGCCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0135 a0003c0003t0003g0135	1	262	0.0038	217	c.249 others(236): Show c.2496-1651_2496-1650insGAGAGGGAGGGCGAGGGGAGAGGGAG GGTGAGGGAGAGGGAGGGTGAGGGAGGGGGAGGGTAAGGGGAGAGGGAGG GTGAGGGAGAGGGAGGATGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGG TGAGGGGAGAGGGAGGGTGAGGGAGAGGGAGGATGAGGGTGAGGGAGAGG GAGGGCGAGGGGAGAGGGAGGGTGAGGGGAGAGGGAGGGTG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SCGB1C1_chr11_188078_199575	194833	A A	ATGGGGAC others(210): Show ATGGGGACATCAGGAACACAGGGCCACAGCCACACACACAGACCCACATA CAGAGGATCCCACTCAAGGAGCACATGTGCGAAAGTCCCCCACAGAGGGA CACACAAATGGGGACATCAGGAACACACTCAGGGCCACAGCCACACACAC AGACCCACATACAGAGGATCCCACTCAAGGAGCACACGTGCGAAAGTCCC CACAGAGGGGCACACAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG01433.hp1 others(24): Show HG00642.hp2 HG01243.hp1 HG01433.hp1 HG01884.hp2 HG01943.hp1 HG02055.hp1 HG02055.hp2 HG02559.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03579.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0001 a0001c0004t0001g0009 a0001c0004t0001g0018 a0001c0004t0001g0001 a0001c0004t0001g0009 a0001c0004t0001g0018	27	354	0.0763	217	c.38 others(226): Show c.383_*384insTGGGGACATCAGGAACACAGGGCCACAGCCACACAC ACAGACCCACATACAGAGGATCCCACTCAAGGAGCACATGTGCGAAAGTC CCCCACAGAGGGACACACAAATGGGGACATCAGGAACACACTCAGGGCCA CAGCCACACACACAGACCCACATACAGAGGATCCCACTCAAGGAGCACAC GTGCGAAAGTCCCCACAGAGGGGCACACAAG	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		259		chr11	TogoVar
SDCCAG8_chr1_243251041_243505091	243338980	A A	AGACCTCA others(210): Show AGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAGTGGG CAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGACAGCTAG TGGGCAGAGGACCTCAGAAAGTGGGGGTGGGCGGCAGGAGGGAGCAGACA GCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCA GACAGCTAGTGGGCAGAG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0156 a0002c0003t0001g0156	1	189	0.0053	217	c.122 others(236): Show c.1222-1934_1222-1933insGTGGGCGGCAGGAGGGAGCAGACAGC TAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAGCAGA CAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAGGGAG CAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGGTGGGCGGCAGGAG GGAGCAGACAGCTAGTGGGCAGAGGACCTCAGAAAGTGGGG	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEPTIN9_chr17_77276499_77505593	77484772	G G	GTGGTGAT others(210): Show GTGGTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGG TGAAGGGGGTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGGTGGTG ATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTG ATGGTGGTGATGGGGCGA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0119 a0001c0001t0002g0119	1	150	0.0067	217	c.913 others(234): Show c.913+2442_913+2443insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGGTGAA GGGGGTGATGGTGGTGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGA TGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484772	G G	GTGGTGAT others(210): Show GTGGTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGAT GGTGGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGG TGAAGGGGGTGATGCTGGTGATTGTGGTGGTGAAGGGGGTGATGGTGGTG ATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGATGGGGTG ATGGTGGTGATGGGGCGA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0156 a0001c0001t0002g0156	1	158	0.0063	217	c.859 others(234): Show c.859+2442_859+2443insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGGTGAA GGGGGTGATGGTGGTGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGA TGGTGGTGATGGGGTGATGGTGGTGATGGGGCGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158169766	A A	ATATAATA others(210): Show ATATAATATATTGTATATTATATATTATATAATATATTGTATATTATATA TTATATAATATATAATATACAATATATTATATAATATATAATATACAATA TATTATATATTATATAATATATTGTATATTATATATTATATAATATATTG TATATTATATATTGTATATTATATAATATATTGTATATTATATATTGTAT ATTATATATAATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp1 NA19065.hp2 NA18945.hp1 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0148 a0001c0001t0001g0006 a0001c0001t0001g0148	2	366	0.0055	217	c.-16 others(228): Show c.-1629_-1628insCAATATATTATATATAATATACAATATATAATAT ACAATATATTATATAATATACAATATATAATATACAATATATTATATAAT ATATAATATACAATATATTATATAATATATAATATATTGTATATTATATA TTATATAATATATTGTATATTATATATTATATAATATATAATATACAATA TATTATATAATATATAATATACAATATATTATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1505		chr6	TogoVar
SERPINF2_chr17_1737871_1760265	1742022	G G	GGGAGTGA others(210): Show GGGAGTGAGAGCAGGTGTGAGGTGGGAAGGAGCCTGATGCAGGGAGTGAG GAGCAGGATAGTGAGGGTGGGAGGCGGGCCTGATGAGGGCAGTGAGTGAG GAGCAGGTGTGAGGGTGGGAAGCGGCCTGATGCAGGGAGTGAGGAGCCGA CAGTGAGGGTGGGAAGGAGCCCGATGTAGGAGTGAGGAGCAGGTGTGAGG GCGGAAGCGGCTGATGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0028 a0005c0007t0001g0028	1	445	0.0023	217	c.-89 others(226): Show c.-891_-890insGGAGTGAGAGCAGGTGTGAGGTGGGAAGGAGCCTGA TGCAGGGAGTGAGGAGCAGGATAGTGAGGGTGGGAGGCGGGCCTGATGAG GGCAGTGAGTGAGGAGCAGGTGTGAGGGTGGGAAGCGGCCTGATGCAGGG AGTGAGGAGCCGACAGTGAGGGTGGGAAGGAGCCCGATGTAGGAGTGAGG AGCAGGTGTGAGGGCGGAAGCGGCTGATGCA	SERPINF2	ENSG00000167711.14	transcript	ENST00000453066.6	protein_coding		848		chr17	TogoVar
SFI1_chr22_31491536_31623588	31601973	T T	TTTTTTTT others(210): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGC TAATTTTTTGTATTTTTA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0016 a0006c0008t0001g0016	1	322	0.0031	217	c.154 others(234): Show c.1545-239_1545-238insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGG ACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCC GGGTTCACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAG GCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32			chr22	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(210): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02896.hp1 HG02723.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0008 a0001c0001t0005 a0001c0001t0008	a0001c0001t0005g0035 a0001c0001t0008g0050 a0001c0001t0005g0035 a0001c0001t0008g0050	2	214	0.0094	217	c.691 others(236): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	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(210): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCT CCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03139.hp1 HG03453.hp1 HG02559.hp2 HG03139.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0014 a0001c0001t0006 a0001c0001t0008 a0001c0001t0014	a0001c0001t0006g0079 a0001c0001t0008g0075 a0001c0001t0014g0077 a0001c0001t0006g0079 a0001c0001t0008g0075 a0001c0001t0014g0077	3	214	0.0140	217	c.691 others(236): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	401430	G G	GCCCCGCT others(210): Show GCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCC CGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTC ACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACCC GCCCCGCTCACACCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	242	0.0041	217	c.44 others(228): Show c.4465_*4466insGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCC GGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGG GGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGCCGGGGGTG AGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTGAGCGG GGCCGGGGGTGAGCGGGTCGGGTGTGAGCGGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		4285		chr11	TogoVar
SIGIRR_chr11_400716_419999	402630	A A	ACCCGCTC others(210): Show ACCCGCTCACCCCGACCCCGCTCACCCCCGCCCCGCTCACCCCTGCCCCG CTCACCCCGGGCCCCGCTCACCCCCCGGCCCCGCTCACCCCGACCCCGCT CACCCCCGACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGCCC CGCTCACCCCGGGACCCGCTCACCCCGACCCCGCTCACCCCCGACCCCCG GCCCCGCTCACCCCCGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	242	0.0041	217	c.32 others(228): Show c.3265_*3266insGCCGGGGGTGAGCGGGGCCGGGGGTCGGGGGTGA GCGGGGTCGGGGTGAGCGGGTCCCGGGGTGAGCGGGGCGGGGGTGAGCGG GGCCGGGGGTGAGCGGGGCCGGGGGTCGGGGGTGAGCGGGGTCGGGGTGA GCGGGGCCGGGGGGTGAGCGGGGCCCGGGGTGAGCGGGGCAGGGGTGAGC GGGGCGGGGGTGAGCGGGGTCGGGGTGAGCGGG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3085		chr11	TogoVar
SLC16A3_chr17_82224042_82245086	82227685	C C	CACCACCT others(210): Show CACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCAC CTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCC TGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCG GGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCA CCACCTGCCCTGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 NA21309.hp2 HG03098.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0290 a0001c0001t0001g0293	2	410	0.0049	217	c.-14 others(228): Show c.-1448_-1447insACCACCTGCCCTGGGCGGGAGCACCACCTGCCCT GGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGG GAGCACCACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCAC CACCTGCCCTGGGCGGGAGCACCACCTGCCCTGGGCGGGAGCACCACCTG CCCTGGGCGGGAGCACCACCTGCCCTGGGCGGG	SLC16A3	ENSG00000141526.18	transcript	ENST00000582743.6	protein_coding		1356		chr17	TogoVar
SLC45A1_chr1_8313114_8349165	8331445	A A	AAACACTT others(210): Show AAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTA AAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTT TAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATT TTTAAAAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATA TTTTTAAAAAACACTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02074.hp2 HG02559.hp2 others(9): Show HG01192.hp2 HG02074.hp2 HG02559.hp2 HG03516.hp1 HG03579.hp2 NA18943.hp1 NA18964.hp1 NA18973.hp2 NA18975.hp1 NA19060.hp2 NA19070.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0010t0001	a0001c0001t0001g0019 a0001c0001t0002g0006 a0001c0001t0002g0112 others(5): Show a0001c0001t0001g0019 a0001c0001t0002g0006 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0151 a0001c0002t0001g0239 a0001c0003t0002g0268 a0001c0010t0001g0186	12	388	0.0309	217	c.144 others(234): Show c.1443+511_1443+512insCACTTTTAAAAAATATTTTTAAAAAACA CTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAAAA CACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAAAA AACACTTTTAAAAAATATTTTTAAAAAACACTTTTAAAAAATATTTTTAA AAAACACTTTTAAAAAATATTTTTAAAAAACACTTTTAA	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC45A4_chr8_141202174_141313288	141203505	G G	GGAGAGAG others(210): Show GGAGAGAGGGAGAGAGGAGAGAGAGACCGTGGAGAGAGGGAGAGGGAGAC CGTGAGGAGAGAGAGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGA GGGGAGGGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGGGAGGAGA GGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGGGAGAGAGG GAGAGAGGGAGAGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0003	a0002c0001t0003g0174 a0002c0001t0003g0174	1	188	0.0053	217	c.80 others(228): Show c.8066_*8067insTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTC CCTCTCTCCCTCTCTCCCTCTCTCCCTCTCTCCCTCTCCTCCCTCTCCCT CTCTCCCTCTCTCCCTCTCTCCCTCTCCCTCCCCTCTCCCTCTCTCCCTC TCTCCCTCTCTCCCTCTCTCTCTCTCTCCTCACGGTCTCCCTCTCCCTCT CTCCACGGTCTCTCTCTCCTCTCTCCCTCTCTC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3668		chr8	TogoVar
SLC66A2_chr18_79897420_79956653	79915992	G G	GCGGTGCT others(210): Show GCGGTGCTCTCATAGCCGCAGTGCTCCCGTACCCTCCCATACCCACGGTG CTCCCGTACCCATGGTGCTCTCATAGCCGCAGTGCTCCCGTACCCTCCCA TACCCACGGTGCTCCCGTACCCATGGTGCTCTCATAGCCGCAGTGCTCCC GTACCCTCCCATACCCACGGTGCTCCCGTACCCATGGCGCTCCCATACCC ACAGCGCTCCCGTACCCA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03942.hp1 HG04228.hp1 HG03669.hp2 HG03942.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0038 a0001c0001t0001g0089 a0001c0001t0001g0091	3	352	0.0085	217	c.608 others(234): Show c.608+3191_608+3192insTGGGTACGGGAGCGCTGTGGGTATGGGA GCGCCATGGGTACGGGAGCACCGTGGGTATGGGAGGGTACGGGAGCACTG CGGCTATGAGAGCACCATGGGTACGGGAGCACCGTGGGTATGGGAGGGTA CGGGAGCACTGCGGCTATGAGAGCACCATGGGTACGGGAGCACCGTGGGT ATGGGAGGGTACGGGAGCACTGCGGCTATGAGAGCACCG	SLC66A2	ENSG00000122490.19	transcript	ENST00000397778.7	protein_coding	5/5			chr18	TogoVar
SLC6A18_chr5_1220381_1251189	1229961	C C	CGGTGCAG others(210): Show CGGTGCAGGCTGGAGGTGGGGGAAGAAGAGCTCTCAGGTGCAGGCTGGAG GTGGGGGAGGGAAAAGGGGCTCTCACAGCACAGGCTGGAGGGGAGCGAAG AAGGGCTCTAACGGTACAGGCTGGAGGGGAGGGAAGAAGGGCTCTCAGGT GCAGGCTGGAGGGGAGGGAAGAAGGGCTGTCACGGTGCAGGCTGGAGGGG AGGGAAGAAGGGCTCTCA	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0004 a0005c0006t0004	a0005c0006t0004g0269 a0005c0006t0004g0269	1	456	0.0022	217	c.161 others(234): Show c.161-2243_161-2242insTGGGGGAAGAAGAGCTCTCAGGTGCAGG CTGGAGGTGGGGGAGGGAAAAGGGGCTCTCACAGCACAGGCTGGAGGGGA GCGAAGAAGGGCTCTAACGGTACAGGCTGGAGGGGAGGGAAGAAGGGCTC TCAGGTGCAGGCTGGAGGGGAGGGAAGAAGGGCTGTCACGGTGCAGGCTG GAGGGGAGGGAAGAAGGGCTCTCAGGTGCAGGCTGGAGG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1229996	A A	AGGTGCAG others(210): Show AGGTGCAGGCTGGAGGTGGGGGAGGGAAAAGGGGCTCTCACAGCACAGGC TGGAGGGGAGCGAAGAAGGGCTCTAACGGTACAGGCTGGAGGGGAGGGAA GAAGGGCTCTCAGGTGCAGGCTGGAGGGGAGGGAAGAAGGGCTGTCACGG TGCAGGCTGGAGGGGAGGGAAGAAGGGCTATCATGGTGCAGGCTGGAGGT GGGGGAAGAAGAGCTCTC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18967.hp2 NA18980.hp1 others(3): Show NA18959.hp2 NA18967.hp2 NA18980.hp1 NA18992.hp1 NA19005.hp1 NA19081.hp2	a0008 a0008	a0008c0015 a0008c0022 a0008c0015 a0008c0022	a0008c0015t0004 a0008c0022t0003 a0008c0015t0004 a0008c0022t0003	a0008c0015t0004g0248 a0008c0015t0004g0253 a0008c0015t0004g0254 others(3): Show a0008c0015t0004g0248 a0008c0015t0004g0253 a0008c0015t0004g0254 a0008c0015t0004g0255 a0008c0015t0004g0257 a0008c0022t0003g0256	6	456	0.0132	217	c.161 others(234): Show c.161-2223_161-2222insGGTGCAGGCTGGAGGTGGGGGAGGGAAA AGGGGCTCTCACAGCACAGGCTGGAGGGGAGCGAAGAAGGGCTCTAACGG TACAGGCTGGAGGGGAGGGAAGAAGGGCTCTCAGGTGCAGGCTGGAGGGG AGGGAAGAAGGGCTGTCACGGTGCAGGCTGGAGGGGAGGGAAGAAGGGCT ATCATGGTGCAGGCTGGAGGTGGGGGAAGAAGAGCTCTC	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	1/11			chr5	TogoVar
SLC6A19_chr5_1196595_1230111	1229961	C C	CGGTGCAG others(210): Show CGGTGCAGGCTGGAGGTGGGGGAAGAAGAGCTCTCAGGTGCAGGCTGGAG GTGGGGGAGGGAAAAGGGGCTCTCACAGCACAGGCTGGAGGGGAGCGAAG AAGGGCTCTAACGGTACAGGCTGGAGGGGAGGGAAGAAGGGCTCTCAGGT GCAGGCTGGAGGGGAGGGAAGAAGGGCTGTCACGGTGCAGGCTGGAGGGG AGGGAAGAAGGGCTCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0015 a0015	a0015c0019 a0015c0019	a0015c0019t0008 a0015c0019t0008	a0015c0019t0008g0365 a0015c0019t0008g0365	1	458	0.0022	217	c.80 others(228): Show c.8057_*8058insGGTGCAGGCTGGAGGTGGGGGAAGAAGAGCTCTC AGGTGCAGGCTGGAGGTGGGGGAGGGAAAAGGGGCTCTCACAGCACAGGC TGGAGGGGAGCGAAGAAGGGCTCTAACGGTACAGGCTGGAGGGGAGGGAA GAAGGGCTCTCAGGTGCAGGCTGGAGGGGAGGGAAGAAGGGCTGTCACGG TGCAGGCTGGAGGGGAGGGAAGAAGGGCTCTCA	SLC6A19	ENSG00000174358.16	transcript	ENST00000304460.11	protein_coding		4851		chr5	TogoVar
SLC6A19_chr5_1196595_1230111	1229996	A A	AGGTGCAG others(210): Show AGGTGCAGGCTGGAGGTGGGGGAGGGAAAAGGGGCTCTCACAGCACAGGC TGGAGGGGAGCGAAGAAGGGCTCTAACGGTACAGGCTGGAGGGGAGGGAA GAAGGGCTCTCAGGTGCAGGCTGGAGGGGAGGGAAGAAGGGCTGTCACGG TGCAGGCTGGAGGGGAGGGAAGAAGGGCTATCATGGTGCAGGCTGGAGGT GGGGGAAGAAGAGCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp2 NA18967.hp1 NA18974.hp2 others(3): Show NA18959.hp2 NA18967.hp1 NA18974.hp2 NA18980.hp1 NA19005.hp1 NA19081.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0017 a0001c0002t0017 a0002c0003t0017 others(1): Show a0001c0001t0017 a0001c0002t0017 a0002c0003t0017 a0002c0003t0026	a0001c0001t0017g0092 a0001c0002t0017g0299 a0001c0002t0017g0310 others(3): Show a0001c0001t0017g0092 a0001c0002t0017g0299 a0001c0002t0017g0310 a0001c0002t0017g0311 a0002c0003t0017g0249 a0002c0003t0026g0312	6	458	0.0131	217	c.80 others(228): Show c.8092_*8093insGGTGCAGGCTGGAGGTGGGGGAGGGAAAAGGGGC TCTCACAGCACAGGCTGGAGGGGAGCGAAGAAGGGCTCTAACGGTACAGG CTGGAGGGGAGGGAAGAAGGGCTCTCAGGTGCAGGCTGGAGGGGAGGGAA GAAGGGCTGTCACGGTGCAGGCTGGAGGGGAGGGAAGAAGGGCTATCATG GTGCAGGCTGGAGGTGGGGGAAGAAGAGCTCTC	SLC6A19	ENSG00000174358.16	transcript	ENST00000304460.11	protein_coding		4886		chr5	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(210): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	410	0.0024	217	c.152 others(234): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAGAGAAAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SLC7A10_chr19_33203664_33230850	33218682	T T	TTTCTTTC others(210): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTTTCTCTCTTTCTCTCTTTCTCTCTTTCTCTC TTTCTCTCTTTCTCTCTTTCTCTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	410	0.0024	217	c.152 others(234): Show c.152-2710_152-2709insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGAGAGAAAGA GAGAAAGAGAGAAAGAGAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	SLC7A10	ENSG00000130876.11	transcript	ENST00000253188.8	protein_coding	1/10			chr19	TogoVar
SNX30_chr9_112745760_112879987	112867294	C C	CTCCTCAG others(210): Show CTCCTCAGAACTCCTCCCACCTCCTCAGAATTCCTCCTCCCTCCTCAGAA CTCTTCCCACCTCCTCAGAATTTCTCCTCCCTCCTCAGAACTCTTCCCAC CTCCTCAGAATTCCTCCTCCCTCCTCAGAACTCCTCCTCCTTCCTCAGAA CTCCTCCTCCATCCTCAGAACTCCTCCCACCTCAGTATTCCTCCTCCCTC CTCAGAACTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03453.hp1 HG01192.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0044 a0001c0001t0020g0047 a0001c0001t0020g0044 a0001c0001t0020g0047	2	338	0.0059	217	c.125 others(236): Show c.1255-1419_1255-1418insTCTCCTCCCTCCTCAGAACTCTTCCC ACCTCCTCAGAATTCCTCCTCCCTCCTCAGAACTCCTCCTCCTTCCTCAG AACTCCTCCTCCATCCTCAGAACTCCTCCCACCTCAGTATTCCTCCTCCC TCCTCAGAACTCCTCCTCCTTCCTCAGAACTCCTCCCACCTCCTCAGAAT TCCTCCTCCCTCCTCAGAACTCTTCCCACCTCCTCAGAATT	SNX30	ENSG00000148158.17	transcript	ENST00000374232.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
SORCS2_chr4_7187538_7747827	7448866	T T	TCCTCTTT others(210): Show TCCTCTTTTCCCTCCCTCCCTCCCTCCCTTCCTCTCTTTTCCCTCTCTCC CTCCCTTCCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTCCCTTCCT CTTTTCCCTCTCTCCCTCCCTTCCTGTCTTTTCCCTCTCTCCCTCCCTTC CTCTTTTCCCTCTCTTCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTCTC TTCCTCCCTCCCTCCCTC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01070.hp2 HG01109.hp1 others(14): Show HG00639.hp1 HG01070.hp2 HG01109.hp1 HG01175.hp1 HG01952.hp2 HG01981.hp1 HG02055.hp2 HG02293.hp1 HG02559.hp1 HG02615.hp1 HG02630.hp2 HG02809.hp1 HG03017.hp1 HG03017.hp2 HG04115.hp2 HG04199.hp1 NA19030.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0017	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0051 a0002c0004 a0003c0012 a0004c0043 a0017c0019	a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 others(12): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0012 a0001c0002t0011 a0001c0003t0008 a0001c0003t0015 a0001c0005t0007 a0001c0006t0005 a0001c0051t0001 a0002c0004t0006 a0002c0004t0008 a0002c0004t0024 a0003c0012t0036 a0004c0043t0037 a0017c0019t0018	a0001c0001t0004g0097 a0001c0001t0005g0130 a0001c0001t0012g0036 others(14): Show a0001c0001t0004g0097 a0001c0001t0005g0130 a0001c0001t0012g0036 a0001c0001t0012g0047 a0001c0002t0011g0112 a0001c0003t0008g0135 a0001c0003t0015g0140 a0001c0005t0007g0065 a0001c0005t0007g0154 a0001c0006t0005g0165 a0001c0051t0001g0068 a0002c0004t0006g0136 a0002c0004t0008g0060 a0002c0004t0024g0057 a0003c0012t0036g0010 a0004c0043t0037g0058 a0017c0019t0018g0027	17	168	0.1012	217	c.548 others(236): Show c.548+52515_548+52516insTTTTCCCTCCCTCCCTCCCTCCCTTC CTCTCTTTTCCCTCTCTCCCTCCCTTCCTCCCTCCCTTCCTCCCTCCCTT CCTCCCTCCCTCCCTTCCTCTTTTCCCTCTCTCCCTCCCTTCCTGTCTTT TCCCTCTCTCCCTCCCTTCCTCTTTTCCCTCTCTTCCTCCCTCCCTCCCT CCCTCCCTTCCTCCCTCTCTTCCTCCCTCCCTCCCTCCCTC	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SP100_chr2_230411201_230550606	230499510	A A	ATATATAT others(210): Show ATATATATAGATAGATATATATTTTTATATATATATTTATATAAATATAT ATATCTAGATATATATCTATCTATATATATTTATATATATAAATATATAT ATTTATTTTTTTATATATAAAATATATATATTTATATATATATTTTATAT ATATAGATATATATATCTATATATTTATTTCCTTTGGCTATGAATTCCCC CACTAGAATGGCAGAAGC	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0046 a0001c0003t0006g0046	1	290	0.0035	217	c.172 others(234): Show c.1720+975_1720+976insTATATATAGATAGATATATATTTTTATA TATATATTTATATAAATATATATATCTAGATATATATCTATCTATATATA TTTATATATATAAATATATATATTTATTTTTTTATATATAAAATATATAT ATTTATATATATATTTTATATATATAGATATATATATCTATATATTTATT TCCTTTGGCTATGAATTCCCCCACTAGAATGGCAGAAGC	SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	19/28			chr2	TogoVar
SPOCK1_chr5_136970298_137504326	137160565	T T	TATATATT others(210): Show TATATATTATATATTATATATTATATAATATATATAATATATTATATATT ATATATAATATATAATATATTATATATAATATATAATATATTATATATAA TATATAATATATTATATATAATATATTATATATTATATATAATATATAAT ATATTATATATAATATATAATATATTATATATAATATATTATATATAATA TATAATATATTATATATA	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	152	0.0066	217	c.233 others(236): Show c.233-19872_233-19871insTATATATAATATATTATATATTATAT ATAATATATTATATATAATATATTATATATTATATATAATATATTATATA TTATATATAATATATAATATATTATATATAATATATTATATATTATATAT AATATATTATATATTATATATAATATATTATATATTATATATAATATATA ATATATTATATATATTATATAATATATAATATATAATATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137160616	T T	TATATTAT others(210): Show TATATTATATATAATATATAATATATTATATATAATATATAATATATTAT ATATAATATATTATATATAATATATAATATATAATATATTATATATAATA TATAATATATTATATATAATATATTATATATAATATATAATATATTATAT ATAATATATTATATATTATATATAATATATAATATATTATATATAATATA TAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	152	0.0066	217	c.233 others(236): Show c.233-19923_233-19922insTATATAAAATATATATTATATATTAT ATATAATATATTATATATTATATATAATATATAATATATTATATATAATA TATTATATATTATATATAATATATTATATATAATATATTATATATTATAT ATAATATATTATATATTATATATTATATATAATATATTATATATAATATA TTATATATTATATATAATATATTATATATTATATATAATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137160616	T T	TATATTAT others(210): Show TATATTATATATAATATATAATATATTATATATAATATATAATATATTAT ATATAATATATTATATATTATATATAATATATAATATATTATATATAATA TATAATATATTATATATAATATATTATATATAATATATAATATATTATAT ATTATATATTATATATTATATATAATATATAATATATTATATATAATATA TAATATATATTTTATATA	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA19084.hp1 NA18992.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0013 a0001c0001t0005 a0001c0001t0013	a0001c0001t0005g0103 a0001c0001t0013g0109 a0001c0001t0005g0103 a0001c0001t0013g0109	2	152	0.0132	217	c.233 others(236): Show c.233-19923_233-19922insTATATAAAATATATATTATATATTAT ATATAATATATTATATATTATATATAATATATAATATATAATATATAATA TATTATATATTATATATAATATATTATATATAATATATTATATATTATAT ATAATATATTATATATTATATATAATATATAATATATTATATATAATATA TTATATATTATATATAATATATTATATATTATATATAATAT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	3/10			chr5	TogoVar
SPOCK3_chr4_166728384_167239494	167109065	T T	TATACTTA others(210): Show TATACTTATATAAAAATATATATAAATATATATTTATATAAAAATATATA TAAATATATATTTATATAAAAATATATATAAATATATATTTATATAAAAA TATATATAAATATATATTTATATAAATATATATAAATATATATTTATATA AATATATATAAATATATATTTATATAAAAATATATATAAATATATATTTA TATAAAAATATATATAAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	144	0.0069	217	c.190 others(236): Show c.190-46529_190-46528insTTTATATATATTTTTATATAAATATA TATTTATATATATTTTTATATAAATATATATTTATATATATTTATATAAA TATATATTTATATATATTTATATAAATATATATTTATATATATTTTTATA TAAATATATATTTATATATATTTTTATATAAATATATATTTATATATATT TTTATATAAATATATATTTATATATATTTTTATATAAGTAT	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar

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