Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

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Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

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

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
C8A_chr1_56849797_56923223	56885370	T T	TTATATTT others(239): Show TTATATTTATTTAAATATATATTTACATAAATATATATTTATTTAAATAT ATATTTACATAAATATATATTTATTTAAATATATATTTACATAAATATAT ATTTATTTAAATATATATTTACATAAATATATATTTATTTAAATATATAT TTATATTTATTTAAATATATATTTACATAAATATATATTTATTTAAATAT ATATTTACATAAATATATATTTATTTAAATATATATTTACATAAATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA18944.hp2 NA18946.hp2 others(7): Show HG00408.hp2 NA18944.hp2 NA18946.hp2 NA18954.hp1 NA18955.hp2 NA18991.hp2 NA18995.hp2 NA19007.hp1 NA19060.hp2 NA19075.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0014 a0001c0001 a0011c0014	a0001c0001t0001 a0011c0014t0001 a0001c0001t0001 a0011c0014t0001	a0001c0001t0001g0003 a0001c0001t0001g0067 a0001c0001t0001g0227 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0067 a0001c0001t0001g0227 a0011c0014t0001g0014	10	366	0.0273	246	c.856 others(261): Show c.856-533_856-532insCATAAATATATATTTATTTAAATATATATT TACATAAATATATATTTATTTAAATATATATTTACATAAATATATATTTA TTTAAATATATATTTACATAAATATATATTTATTTAAATATATATTTATA TTTATTTAAATATATATTTACATAAATATATATTTATTTAAATATATATT TACATAAATATATATTTATTTAAATATATATTTACATAAATATATATTTA TTTAAATATATATTTA		C8A	ENSG00000157131.12	transcript	ENST00000361249.4	protein_coding	6/10					INFO_REALIGN_3_PRIME	chr1	TogoVar
CABLES2_chr20_62383634_62412285	62397938	A A	ATGGCGGT others(239): Show ATGGCGGTGGTGGTGATGGTGGTGACGGTGGTGATGGTGATGATGGTGAT GGTTATGGCGGTGGTGGTGGTGGTGACAGTGATGGTGATGGTGGTGATGG CGATGGTGGTGGTGACGGTGGTGGTGACGGTGGTGGTGGTGGTGGTGGTG GTGATGGCGGTGGTGGTGATGATGGTGATGGTTATGGCGGTGGTGGTGGT GGTGACAGTGATGGTGATGGTGGTGATGGCGATGGTGGTGGTGACGG	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18522.hp2 HG02056.hp1 NA18522.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0003 a0004c0007t0003	a0004c0007t0003g0080 a0004c0007t0003g0169 a0004c0007t0003g0080 a0004c0007t0003g0169	2	400	0.0050	246	c.363 others(263): Show c.363-1347_363-1346insCCGTCACCACCACCATCGCCATCACCAC CATCACCATCACTGTCACCACCACCACCACCGCCATAACCATCACCATCA TCACCACCACCGCCATCACCACCACCACCACCACCACCACCGTCACCACC ACCGTCACCACCACCATCGCCATCACCACCATCACCATCACTGTCACCAC CACCACCACCGCCATAACCATCACCATCATCACCATCACCACCGTCACCA CCATCACCACCACCGCCA		CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9						chr20	TogoVar
CACNA1C_chr12_2047987_2702950	2539665	T T	TTTCATAA others(239): Show TTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0079 a0001c0005t0026g0079	1	104	0.0096	246	c.139 others(267): Show c.1391-10238_1391-10237insCTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGT TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCA GGGTTTAAGGACTTAAGGAGGG		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1C_chr12_2047987_2702950	2539829	C C	CTTCATAA others(239): Show CTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAG GAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02040.hp1 HG02273.hp1 others(3): Show HG01496.hp1 HG02040.hp1 HG02273.hp1 HG03490.hp1 HG03492.hp2 NA18966.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0001 a0001c0003t0002 a0001c0003t0008 others(2): Show a0001c0002t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0010 a0001c0005t0002	a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0003t0002g0045 others(3): Show a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0003t0002g0045 a0001c0003t0008g0057 a0001c0003t0010g0019 a0001c0005t0002g0090	6	104	0.0577	246	c.139 others(267): Show c.1391-10074_1391-10073insCTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGCTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGC TTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGCTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCA GGGTTTAAGGACTTAAGGAGGG		CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46					INFO_REALIGN_3_PRIME	chr12	TogoVar
CAPN11_chr6_44153820_44189401	44181427	C C	CACCCAAC others(239): Show CACCCAACCACACCACACTCACACACACACACACCCAACCACACCACACT CACACACACACGCACACACACTCACAGACACAACCACACCACACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACACATA CACACTCACATACAGACACAACCACACCACACTCACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACATACACACTCACAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02145.hp2 HG01515.hp2 HG02145.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0189 a0004c0004t0001g0282 a0004c0004t0001g0189 a0004c0004t0001g0282	2	460	0.0044	246	c.193 others(263): Show c.1938+109_1938+110insCCAACCACACCACACTCACACACACACA CACCCAACCACACCACACTCACACACACACGCACACACACTCACAGACAC AACCACACCACACACACACATACACACTCACATACAGACACAACCACACC ACACTCACACACACACATACACACTCACATACAGACACAACCACACCACA CTCACACATACACACTCACATACAGACACAACCACACCACACTCACACAC ACATACACACTCACATAC		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22					INFO_REALIGN_3_PRIME	chr6	TogoVar
CAPN11_chr6_44153820_44189401	44181427	C C	CCCAACCA others(239): Show CCCAACCACACCACACTCACACACACACACACACCCAACCACACCACACT CACACACACACGCACACACACTCACAGACACAACCACACCACACACACAC ATACACACTCACATACAGACACAACCACACCACACTCACACACACACATA CACACTCACATACAGACACAACCACACCACACTCACACATACACACTCAC ATACAGACACAACCACACCACACTCACACACACATACACACTCACAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG02818.hp2 HG02895.hp1 others(2): Show HG01106.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp2 NA21309.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0086 a0004c0004t0004g0164 a0004c0004t0004g0165 others(2): Show a0004c0004t0004g0086 a0004c0004t0004g0164 a0004c0004t0004g0165 a0004c0004t0004g0166 a0004c0004t0004g0203	5	460	0.0109	246	c.193 others(263): Show c.1938+107_1938+108insCCAACCACACCACACTCACACACACACA CACACCCAACCACACCACACTCACACACACACGCACACACACTCACAGAC ACAACCACACCACACACACACATACACACTCACATACAGACACAACCACA CCACACTCACACACACACATACACACTCACATACAGACACAACCACACCA CACTCACACATACACACTCACATACAGACACAACCACACCACACTCACAC ACACATACACACTCACAT		CAPN11	ENSG00000137225.13	transcript	ENST00000398776.2	protein_coding	19/22						chr6	TogoVar
CARMIL1_chr6_25274374_25625530	25459266	C C	CTTTCTTT others(239): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0001 a0001c0018t0001	a0001c0018t0001g0094 a0001c0018t0001g0094	1	186	0.0054	246	c.615 others(263): Show c.615-6604_615-6603insCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTTT		CARMIL1	ENSG00000079691.19	transcript	ENST00000329474.7	protein_coding	8/36					INFO_REALIGN_3_PRIME	chr6	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(239): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGAAGGGGAAGG GGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGG AGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGAGGGA GAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0004 a0002c0004t0004	a0002c0004t0004g0319 a0002c0004t0004g0319	1	364	0.0028	246	c.234 others(263): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTT CTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCCTCCCCCCTCCCC CTCCCCCTCCCCCTCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCT		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10						chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(239): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAAGGGGAAGGGGAAGGG GAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGG GGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0046 a0001c0002t0001g0046	1	364	0.0028	246	c.234 others(263): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTCCCCCTCCCCCTCCC CCTCCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCT TCTTCTTCTTCTTCTTCT		CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10						chr1	TogoVar
CBFA2T3_chr16_88869858_88982207	88888598	T T	TCTACTCC others(239): Show TCTACTCCCTGGGTGGGGTGGGGGAGGGGTGGGGTGGGGGAAGGGTGCAG GTGGGGTGGGGGAAGGGTGCGGGTGGGGTGGGGGAGGGGTGTGGGTGGGG TGGGGTGGGAGGGGTGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGAGG GGTGGGGTGGGGTGGGAGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGG GAGGGGTGGGGTGGGAGGGGTGGGGTGGGGTGGGAGGGGGTGGGGTG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02970.hp2 HG02723.hp2 HG02970.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0014 a0001c0008t0032 a0001c0008t0014 a0001c0008t0032	a0001c0008t0014g0167 a0001c0008t0032g0146 a0001c0008t0014g0167 a0001c0008t0032g0146	2	284	0.0070	246	c.712 others(263): Show c.712-2457_712-2456insCACCCCACCCCCTCCCACCCCACCCCAC CCCTCCCACCCCACCCCTCCCCCACCCCACCCCACCCCTCCCACCCCACC CCTCCCACCCCACCCCACCCCTCCCACCCCACCCCACCCCTCCCACCCCA CCCCACCCCTCCCACCCCACCCCACCCACACCCCTCCCCCACCCCACCCG CACCCTTCCCCCACCCCACCTGCACCCTTCCCCCACCCCACCCCTCCCCC ACCCCACCCAGGGAGTAG		CBFA2T3	ENSG00000129993.15	transcript	ENST00000268679.9	protein_coding	5/11						chr16	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(239): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCC TCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	410	0.0024	246	c.-22 others(257): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGG		CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding					2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(239): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCC TCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	410	0.0024	246	c.-22 others(257): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAA GGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGG		CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding					2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(239): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCC TCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	410	0.0024	246	c.-22 others(257): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGGAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGG		CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding					2039		chr17	TogoVar
CCDC42_chr17_8724935_8749836	8746874	C C	CCCTTCCC others(239): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTT CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC CTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCTTCCCCCTCCCCTTCCC TCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTTCCCACCCCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	1	410	0.0024	246	c.-22 others(257): Show c.-2266_-2265insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAA GGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAA GGGAAGGGAAGG		CCDC42	ENSG00000161973.11	transcript	ENST00000293845.8	protein_coding					2039		chr17	TogoVar
CCDC6_chr10_59783747_59911556	59882049	G G	GCGGGAGA others(239): Show GCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGAAAGGAAAGCCAGGGGGA GAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCCGGGGAGAAGGA AAGGAAAGCCGGGGGGAGAAGGAAAGAAAAGCCGCGGGGAGAAGGAAAGG AAAGCCGGGGGAGAAGGAAAGGAAAGCCGGGGGGAGAAGGAAAGGAAAGC CGCGGGGAGAAGGAAAGGAAAGCCGGCGGGAGAAGGAAAGGAAAGCC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0024 a0002c0004t0024	a0002c0004t0024g0142 a0002c0004t0024g0142	1	288	0.0035	246	c.303 others(265): Show c.303+24072_303+24073insGGCTTTCCTTTCCTTCTCCCGCCGGC TTTCCTTTCCTTCTCCCCGCGGCTTTCCTTTCCTTCTCCCCCCGGCTTTC CTTTCCTTCTCCCCCGGCTTTCCTTTCCTTCTCCCCGCGGCTTTTCTTTC CTTCTCCCCCCGGCTTTCCTTTCCTTCTCCCCGGCTTTCCTTTCCTTCTC CCGCCGGCTTTCCTTTCCTTCTCCCCCTGGCTTTCCTTTCCTTCTCCCCG GCTTTCCTTTCCTTCTCCCG		CCDC6	ENSG00000108091.11	transcript	ENST00000263102.7	protein_coding	1/8						chr10	TogoVar
CCR9_chr3_45881543_45908174	45890306	T T	TATATATA others(239): Show TATATATATTTATATAAATATATATATAACATATATATATTTATATAAAT ATATATATGTTATATATATATTTATATAAATATATATATAACATATATAT ATTTATATAAATATATATATAACATATATATATTTATATAAATATATATA TAACATATATATATTTATATAAATATATATATAACATATATATATTTATA TAAATATATATATAACATATATATATTTATATAAATATATATATAAC	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02165.hp1 HG01993.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0118 a0001c0001t0001g0076 a0001c0001t0001g0118	2	424	0.0047	246	c.-29 others(263): Show c.-29+3659_-29+3660insTTATATAAATATATATATAACATATATA TATTTATATAAATATATATATGTTATATATATATTTATATAAATATATAT ATAACATATATATATTTATATAAATATATATATAACATATATATATTTAT ATAAATATATATATAACATATATATATTTATATAAATATATATATAACAT ATATATATTTATATAAATATATATATAACATATATATATTTATATAAATA TATATATAACATATATAT		CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr3	TogoVar
CCZ1_chr7_5893733_5931550	5930763	C C	CGTACACA others(239): Show CGTACACAGCCCACCAAGATGCCTAGCAGCAAAGGTGTACATGTACACAG CCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAG ATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGC AGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGT GAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp2 HG04115.hp1 HG02074.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0105 a0001c0001t0002g0059 a0001c0001t0002g0105	2	114	0.0175	246	c.50 others(257): Show c.5076_*5077insGTACACAGCCCACCAAGATGCCTAGCAGCAAAGG TGTACATGTACACAGCCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGT ACACAGCCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCC CCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATG CCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCAGC AAAGGTGAGCAT		CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding					4214		chr7	TogoVar
CD247_chr1_167425640_167523529	167435206	T T	TTCCTCCA others(239): Show TTCCTCCAGCCCTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTT CCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCT CCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTC CTCCAGCCCTTCCTCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCC TCCGGAGCCCTCCTCCAGCCCTTCCTCCAGCCCTTCCTCCGGAGCCC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0331	1	374	0.0027	246	c.336 others(261): Show c.336+192_336+193insGGGCTCCGGAGGAAGGGCTGGAGGAAGGGC TGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTC CGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCT GGAGGAAGGGCTGGAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTG GAGGAGGGCTCCGGAGGAAGGGCTGGAGGAAGGGCTGGAGGAGGGCTCCG GAGGAGGGCTGGAGGA		CD247	ENSG00000198821.12	transcript	ENST00000362089.10	protein_coding	5/7						chr1	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(239): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGCA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	246	c.27 others(257): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGCATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGC		CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding					708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(239): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACACATATATGTGTGTGTATACGCATACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	442	0.0023	246	c.27 others(257): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGC ATACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGC		CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding					708		chr11	TogoVar
CD3G_chr11_118339344_118360161	118355868	T T	TATATACA others(239): Show TATATACACAAGTGTGTATATACGTATATACACAAGTGTGTATATACGTA TACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTA TACGCATACACACATATATGTGTGTGTATACGCATACACACACATATATG TGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACA TATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02630.hp2 others(3): Show HG02109.hp1 HG02145.hp2 HG02630.hp2 HG03130.hp1 NA18957.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0002 a0001c0001t0011g0002 a0001c0001t0001g0002 a0001c0001t0011g0002	6	442	0.0136	246	c.27 others(257): Show c.2768_*2769insATATACACAAGTGTGTATATACGTATATACACAA GTGTGTATATACGTATACACACATATATGTGTGTGTATACGCATACACAC ATATATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCAT ACACACACATATATGTGTGTGTATACGCATACACACATATATGTGTGTGT ATACGCATACACACATATATGTGTGTGTATACGCATACACACATATATGT GTGTGTATACGC		CD3G	ENSG00000160654.11	transcript	ENST00000532917.3	protein_coding					708		chr11	TogoVar
CD81_chr11_2372310_2402397	2379428	A A	AGAGTGTG others(239): Show AGAGTGTGGACCTGGGGGTGGGGGCTGAGGGAGAGTGTGGACCTGGGGGT GGGGGTTGAGGGAGGGTGTGGACCTGGGGGTGGGGGCTGAGGGAGAGTGT GGACCTGGGGGTGGGGGCTGAGGGAGAGTGTGGACCTGGGGGTGGGGGCT GAGGGAGAGTGTGGACCTGGGGGTGGGGGCTGAGGGAGAGTGTGGACCTG GGGGTGGGGGTTGAGGGAGGGTGTGGACCTGGGGGTAGGGGCTGAGG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	388	0.0026	246	c.66+ others(261): Show c.66+1836_66+1837insCTGAGGGAGAGTGTGGACCTGGGGGTGGGG GTTGAGGGAGGGTGTGGACCTGGGGGTGGGGGCTGAGGGAGAGTGTGGAC CTGGGGGTGGGGGCTGAGGGAGAGTGTGGACCTGGGGGTGGGGGCTGAGG GAGAGTGTGGACCTGGGGGTGGGGGCTGAGGGAGAGTGTGGACCTGGGGG TGGGGGTTGAGGGAGGGTGTGGACCTGGGGGTAGGGGCTGAGGGAGTGTG GACCTGGGGGTGGGGG		CD81	ENSG00000110651.13	transcript	ENST00000263645.10	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr11	TogoVar
CELSR1_chr22_46356174_46542620	46487657	A A	AGGGTGCA others(239): Show AGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGG GGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGTGCGGGGGAGGGG AGTCCAGGGTGCAGGTGGGGGGCGTGGGGGAGGGGAGTCCAGGGTGCAGG TGGGGGGGTGCGGGGGAGGGGAGTCCAGGGTGCGGGGGAGGGGAGTCCAG GGTGCAGGTGGGGGGCACGGAGGAGGGGAGTCCAGGGTGCAGGTGGG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0009 a0009	a0009c0053 a0009c0053	a0009c0053t0001 a0009c0053t0001	a0009c0053t0001g0090 a0009c0053t0001g0090	1	104	0.0096	246	c.354 others(267): Show c.3545-23313_3545-23312insCCCACCTGCACCCTGGACTCCCCT CCTCCGTGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCTGGA CTCCCCTCCCCCGCACCCCCCCACCTGCACCCTGGACTCCCCTCCCCCAC GCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCCCCACCTGCAC CCTGGACTCCCCTCCCCCGCGCCCCCCACCTGCACCCTGGACTCCCCTCC CCCGCGCCCCCCACCTGCACCC		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34						chr22	TogoVar
CELSR1_chr22_46356174_46542620	46487657	A A	AGGGTGCA others(239): Show AGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGG GGCGCGGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGTGCGGGGGAGGG GAGTCCAGGGTGCAGGTGGGGGGCGTGGGGGAGGGGAGTCCAGGGTGCAG GTGGGGGGTGCGGGGGAGGGGAGTCCAGGGTGCGGGGGAGGGGAGTCCAG GGTGCAGGTGGGGGGCACGGAGGAGGGGAGTCCAGGGTGCAGGTGGG	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0047 a0047	a0047c0063 a0047c0063	a0047c0063t0003 a0047c0063t0003	a0047c0063t0003g0099 a0047c0063t0003g0099	1	104	0.0096	246	c.354 others(267): Show c.3545-23313_3545-23312insCCCACCTGCACCCTGGACTCCCCT CCTCCGTGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCTGGA CTCCCCTCCCCCGCACCCCCCACCTGCACCCTGGACTCCCCTCCCCCACG CCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCCCCACCTGCACC CTGGACTCCCCTCCCCCCGCGCCCCCCACCTGCACCCTGGACTCCCCTCC CCCGCGCCCCCCACCTGCACCC		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34						chr22	TogoVar
CELSR1_chr22_46356174_46542620	46487657	A A	AGGGTGCA others(239): Show AGGGTGCAGGTGGGGGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGG GGGCGCGGGGGAGGGGAGTCCAGGGTGCAGGTGGGGGGTGCGGGGGAGGG GAGTCCAGGGTGCAGGTGGGGGGCGTGGGGGAGGGGAGTCCAGGGTGCAG GTGGGGGGTGCGGGGGAGGGGAGTCCAGGGTGCGGGGGAGGGGAGTCCAG GGTGCAGGTGGGGGGCACGGAGGAGGGGAGTCCAGGGTGCAGGTGGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0037 a0037	a0037c0008 a0037c0008	a0037c0008t0001 a0037c0008t0001	a0037c0008t0001g0005 a0037c0008t0001g0005	1	104	0.0096	246	c.354 others(267): Show c.3545-23313_3545-23312insCCCACCTGCACCCTGGACTCCCCT CCTCCGTGCCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCTGGA CTCCCCTCCCCCGCACCCCCCACCTGCACCCTGGACTCCCCTCCCCCACG CCCCCCACCTGCACCCTGGACTCCCCTCCCCCGCACCCCCCACCTGCACC CTGGACTCCCCTCCCCCGCGCCCCCCCACCTGCACCCTGGACTCCCCTCC CCCGCGCCCCCCACCTGCACCC		CELSR1	ENSG00000075275.18	transcript	ENST00000674500.2	protein_coding	1/34						chr22	TogoVar
CENPH_chr5_69184583_69215357	69204071	A A	ATAGAATA others(239): Show ATAGAATATATATATATAGAATATATATATAGAATATATATATATAGAAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATATATA TATAGAATATATATATATAGAATATATATATATAGAATATATATATATAG AATATATATATATAGAATATATATATATAGAATATATATATATAGAATAT ATATATATAGAATATATATATATAGAATATATATATATAGAATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG02027.hp1 NA18960.hp2 others(2): Show HG00280.hp1 HG02027.hp1 NA18960.hp2 NA19070.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0140 others(2): Show a0001c0001t0001g0114 a0001c0001t0001g0125 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145	5	388	0.0129	246	c.487 others(263): Show c.487+1101_487+1102insTAGAATATATATATATAGAATATATATA TAGAATATATATATATAGAATATATATATAGAATATATATATATAGAATA TATATATATAGAATATATATATATAGAATATATATATATAGAATATATAT ATATAGAATATATATATATAGAATATATATATATAGAATATATATATATA GAATATATATATATAGAATATATATATATAGAATATATATATATAGAATA TATATATATAGAATATAT		CENPH	ENSG00000153044.10	transcript	ENST00000283006.7	protein_coding	7/8						chr5	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTAGATAG others(239): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGACACATCTAGATAGATAT ATAGACACATCTAGATAGATATATAGACACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0221 a0001c0001t0002g0221	1	440	0.0023	246	c.12 others(257): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTGTCTATATATCTATC TAGATGTGTCTATATATCTATCTAGATGTGTCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTA		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTAGATAG others(239): Show CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0201 a0001c0001t0002g0201	1	440	0.0023	246	c.12 others(257): Show c.1214_*1215insTCTAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTA TATATCTATCTA		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881962	C C	CTATATAG others(239): Show CTATATAGATACATAGATACATCTATATAGATACATAGATACATCTATAT AGATACATAGATACATCTATATAGATACATAGATACATCTATATAGATAC ATAGATACATCTATATAGATACATAGATACATCTATATAGATACATAGAT ACATCTATATAGATACATAGATACATCTATATAGATACATAGATACATCT ATATAGATACATAGATACATCTATATAGATACATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03579.hp1 HG03516.hp1 HG03579.hp1	a0007 a0021 a0007 a0021	a0007c0009 a0021c0018 a0007c0009 a0021c0018	a0007c0009t0002 a0021c0018t0002 a0007c0009t0002 a0021c0018t0002	a0007c0009t0002g0056 a0021c0018t0002g0248 a0007c0009t0002g0056 a0021c0018t0002g0248	2	440	0.0046	246	c.12 others(257): Show c.1214_*1215insTATAGATGTATCTATGTATCTATATAGATGTATC TATGTATCTATATAGATGTATCTATGTATCTATATAGATGTATCTATGTA TCTATATAGATGTATCTATGTATCTATATAGATGTATCTATGTATCTATA TAGATGTATCTATGTATCTATATAGATGTATCTATGTATCTATATAGATG TATCTATGTATCTATATAGATGTATCTATGTATCTATATAGATGTATCTA TGTATCTATATA		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					316		chr13	TogoVar
CENPJ_chr13_24877279_24927861	24881980	C C	CTATATAG others(239): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGAT ACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCT AGATAGATATATAGATACATCTAGATAGATATATAGATACATCTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0054 a0001c0001t0002g0054	2	440	0.0046	246	c.11 others(257): Show c.1196_*1197insTATAGATGTATCTATATATCTATCTAGATGTATC TATATATCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATA TCTATCTAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATC TAGATGTATCTATATATCTATCTAGATGTATCTATATATCTATCTAGATG TATCTATATATCTATCTAGATGTATCTATATATCTATATAGATGTATCTA TATATCTATATA		CENPJ	ENSG00000151849.16	transcript	ENST00000381884.9	protein_coding					298		chr13	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAAAGAAA others(239): Show AAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAA GAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGA AAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAA GAAAGAGAAAGAAAGAGAAAGAAAGAGAAAGAGAAAGAAAGAGAAAG	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0014 a0001c0002t0002g0014	2	258	0.0078	246	c.403 others(261): Show c.403-623_403-622insCTTTCTCTTTCTTTCTCTTTCTCTTTCTTT CTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTT		CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5						chr22	TogoVar
CENPM_chr22_41933737_41952152	41939818	A A	AAAAGAAA others(239): Show AAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAA GAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAAAGA AAGAAAGAAAGAAAGAAAAAGAAAGAAAAAGAAAGAAAGAAAGAAAGAAA GAGAAAGAAAGAGAAAGAAAGAGAAAGAGAAAGAAAGAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0157 a0001c0002t0002g0157	1	258	0.0039	246	c.403 others(261): Show c.403-623_403-622insCTTTCTTTCTCTTTCTTTCTCTTTCTCTTT CTTTCTCTTTCTTTCTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTT TTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTTCTTTTTCTTTCT TTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCTTT CTTTTTCTTTCTTTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTTTCT TTCTTTTTCTTTCTTT		CENPM	ENSG00000100162.15	transcript	ENST00000215980.10	protein_coding	5/5						chr22	TogoVar
CFAP46_chr10_132803392_132947570	132918127	A A	ACCCCCCT others(239): Show ACCCCCCTCTCCACGACGCACCTCAGCACCGATGAACCCCCCTCTCCACG ACGCACCTCAGCACCGATGAACCCCCCTCTCCACGACGCACCTCAGCACC GATGAACCCCCCTCTCCACGACGCACCTCAGCACCGATGAACCCCCCTCT CCACGACGCACCTCAGCACCGATGAACCCCCCTCTCCACGACGCACCTCA GCACCGATGAACCCCCCTCTCCACGACGCACCTCAGCACCGATGAAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0012 a0012	a0012c0025 a0012c0025	a0012c0025t0002 a0012c0025t0002	a0012c0025t0002g0014 a0012c0025t0002g0014	1	246	0.0041	246	c.198 others(263): Show c.1986+265_1986+266insGTTCATCGGTGCTGAGGTGCGTCGTGGA GAGGGGGGTTCATCGGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCATCG GTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCATCGGTGCTGAGGTGCGTC GTGGAGAGGGGGGTTCATCGGTGCTGAGGTGCGTCGTGGAGAGGGGGGTT CATCGGTGCTGAGGTGCGTCGTGGAGAGGGGGGTTCATCGGTGCTGAGGT GCGTCGTGGAGAGGGGGG		CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	16/57						chr10	TogoVar
CGB7_chr19_49049274_49062749	49054318	G G	GGGGGGGG others(239): Show GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGCCGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGAGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18979.hp2 NA18979.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0003 a0009c0015t0003	a0009c0015t0003g0063 a0009c0015t0003g0063	1	422	0.0024	246	c.470 others(253): Show c.470_471insGGACCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCTCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCGGCCCCCCCCCCCCCCCC CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC CCCCCCCC	p.Pro others(259): Show p.Pro157_Ser158insAspProProProProProProProProProPr oProProProProProProProProProProProProProProProProP roProProSerProProProProProProProProProProProProPro ProProProProProProProProProProProProArgProProProPr oProProProProProProProProProProProProProProProProP roProProProPro	CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding	5/5	2106/2151	470/498	157/165			chr19	TogoVar
CMIP_chr16_81439808_81716762	81704284	C C	CCTCTTCC others(239): Show CCTCTTCCCTGCCCCCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCC TGCCCCCTCACCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCTTC ACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTC CCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTCCCC CTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTCCCCCTTACT	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	268	0.0037	246	c.209 others(263): Show c.2091+202_2091+203insTTCCCTGCCCCCTCACCCTCCTCCCTGT CCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCCTTAC TCTCCTCCCTGCCCCTTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCC TGCCCCCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTC ACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTC CCTGTCCCCCTTACTCTC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CNOT1_chr16_58514951_58634826	58586443	G G	GGGGAGGG others(239): Show GGGGAGGGGAAGGGAAGGGCAGGGGAGGGGGAGGGGGACTGGAGGGGAGG GGACGGGAGGGGGGAGGGGGAGGGGAGGGGGGACTGGAGGGGAGGGGAGG GGAAGGGGAAGGGAAGGGGAGGGGAAGGGGATGGGAGGGGAAGGGGAGGA GAGGGAGAGGGGAAGGGGAGGGGAGGGGAAGGGGAAGGGAAGGGGAGGGA AGGGGAGGGAAGGGGAGGGAAGGGGAGGGGAGGGGAAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02148.hp1 HG01981.hp1 HG02148.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0137 a0001c0008t0005g0138 a0001c0008t0005g0137 a0001c0008t0005g0138	2	308	0.0065	246	c.637 others(261): Show c.637+101_637+102insTCCCCTCCCCTTCCCCTCCCCTCCCCTTCC CTCCCCTTCCCTCCCCTTCCCTCCCCTTCCCTTCCCCTTCCCCTCCCCTC CCCTTCCCCTCTCCCTCTCCTCCCCTTCCCCTCCCATCCCCTTCCCCTCC CCTTCCCTTCCCCTTCCCCTCCCCTCCCCTCCAGTCCCCCCTCCCCTCCC CCTCCCCCCTCCCGTCCCCTCCCCTCCAGTCCCCCTCCCCCTCCCCTGCC CTTCCCTTCCCCTCCC		CNOT1	ENSG00000125107.19	transcript	ENST00000317147.10	protein_coding	7/48						chr16	TogoVar
COL18A1_chr21_45400165_45518720	45440642	G G	GGGGCCTG others(239): Show GGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGCTGGGGCCTGC TGGGGTTTGAGCCACGTTCCCCGGAAGCAGTCGGGGCCTGCTGGGGTTTG AGCCACGTTCCCCGGAAGCAGCTGGGGCCTGCTGGGGTTTGAGCCACGTT CCCCGGAAGCAGCTGGGGCCTGCTGGGGTTTGAGCCACGTTTCCCGGAAG CAGCTGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCAGAAGCAGTCA	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01346.hp2 HG02970.hp2 others(1): Show HG01258.hp2 HG01346.hp2 HG02970.hp2 HG03195.hp1	a0001 a0001	a0001c0003 a0001c0037 a0001c0003 a0001c0037	a0001c0003t0001 a0001c0037t0001 a0001c0003t0001 a0001c0037t0001	a0001c0003t0001g0110 a0001c0003t0001g0287 a0001c0037t0001g0062 others(1): Show a0001c0003t0001g0110 a0001c0003t0001g0287 a0001c0037t0001g0062 a0001c0037t0001g0157	4	292	0.0137	246	c.107 others(265): Show c.107-27562_107-27561insCTGGGGCCTGCTGGGGTTTGAGCCAC GTTCCCCGGAAGCAGTCGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGG AAGCAGCTGGGGCCTGCTGGGGTTTGAGCCACGTTCCCCGGAAGCAGCTG GGGCCTGCTGGGGTTTGAGCCACGTTTCCCGGAAGCAGCTGGGGCCTGCT GGGGTTTGAGCCACGTTCCCCAGAAGCAGTCAGGGCCTGCTGGGGTTTGA GCCACGTTCCCCGGAAGCAG		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL20A1_chr20_63288186_63339806	63294172	C C	CGGGGGGA others(239): Show CGGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGGAGGGGAGTGCGG GGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGG GGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	290	0.0035	246	c.-11 others(261): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGG GAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGG AGCGGGAGTGTGGGGG		COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr20	TogoVar
COL20A1_chr20_63288186_63339806	63294173	G G	GGGGGGAG others(239): Show GGGGGGAGGGGGAGTGCGGGGGAGGGGGAGTGCGGGGGAGGGGAGTGTGG GGGGAGGGGAGTGCGGGGGAGGGGGGAGTGCGGGGGGAGGGGAGTGCGGG GGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGGGGAGGGGGAGTGTGG GGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGGGGAGCGGAGTGTGGG GGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAGGAGCGGGAGTGT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0141 a0009c0013t0002g0141	1	290	0.0035	246	c.-11 others(261): Show c.-11+902_-11+903insGAGGGGGAGTGCGGGGGAGGGGGAGTGCGG GGGAGGGGAGTGTGGGGGGAGGGGAGTGCGGGGGAGGGGGGAGTGCGGGG GGAGGGGAGTGCGGGGGGAGGGGGAGTGCGGGGGAAGGGGGAGTGCGGGG GGAGGGGGAGTGTGGGGGGGAGGGGAGTGCGGGGGGAGGGGGAGTGCAGG GGAGCGGAGTGTGGGGGAAGGGGGAGTGCGGGGGGAGCGGGGCTGCCGAG GAGCGGGAGTGTGGGG		COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	1/35					INFO_REALIGN_3_PRIME	chr20	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(239): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCC TCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0140 a0002c0002t0001g0140	1	324	0.0031	246	c.101 others(263): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCC		CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCACCC others(239): Show CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCC CTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	324	0.0031	246	c.101 others(263): Show c.1010-539_1010-538insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCT CCCCCCACCCCGGGTCCC		CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr22	TogoVar
CRELD2_chr22_49913634_49932537	49926713	C C	CCCCCACC others(239): Show CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	324	0.0031	246	c.101 others(263): Show c.1010-538_1010-537insACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCC CCTCTTGCCCCTCCCTCCCCCCACCCCGGGTCCCCTCTTGCCCCTCCCTC CCCCCACCCCGGGTCCCC		CRELD2	ENSG00000184164.15	transcript	ENST00000328268.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr22	TogoVar
CROCC2_chr2_240901336_240998311	240924231	G G	GACCCAGC others(239): Show GACCCAGCCCCCACACTAACCCTAACCCCACACTAACCCGGCCCCCACAC TAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGCCCCCA CACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCC CACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCAGC CCCCAACACTAACCCAGCCCCCCACACTAACCCGGCCCCCAACACTA	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0253 a0002c0002t0002g0253	1	350	0.0029	246	c.489 others(263): Show c.489-1489_489-1488insAGCCCCCACACTAACCCTAACCCCACAC TAACCCGGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCA CACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCC ACACTAACCCGGCCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCC CCCCACACTAACCCAGCCCCCAACACTAACCCAGCCCCCCACACTAACCC GGCCCCCAACACTAACCC		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CTNNA2_chr2_79508051_80653780	80634516	T T	TGTGAAGA others(239): Show TGTGAAGACCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	68	0.0147	246	c.257 others(267): Show c.2575-13055_2575-13054insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGTCGGACTGCGGAC TGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACG CCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCC ACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCT TGTTAGCCGTGAAGACCATTTT		CTNNA2	ENSG00000066032.19	transcript	ENST00000402739.9	protein_coding	18/18					INFO_REALIGN_3_PRIME	chr2	TogoVar
CUX2_chr12_111029165_111355554	111332298	A A	AATTTTTG others(239): Show AATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	100	0.0100	246	c.292 others(265): Show c.2927-2128_2927-2127insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCG CGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCT GCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCG GCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAG GATGGATTTTTGTATTTTTT		CUX2	ENSG00000111249.14	transcript	ENST00000261726.11	protein_coding	18/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(239): Show ATATATATGTGTATATATATATATATATATATATATGTGTATATATATAT ATATATGTGTATATATATATATATATATATATATGTGTATATATATATAT ATATATATATGTGTATATATATATATATATATATGTGTATATATATATAT ATATATATATGTGTATATATATATATATATATATATGTGTATATATATAT ATATATATATATATATGTGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0019	a0002c0002t0019g0226 a0002c0002t0019g0226	1	334	0.0030	246	c.290 others(261): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TATGTGTATATATATATATATATGTGTATATATATATATATATATATATA TGTGTATATATATATATATATATATATGTGTATATATATATATATATATA TGTGTATATATATATATATATATATATGTGTATATATATATATATATATA TATGTGTATATATATATATATATATATATATATGTGTATATATATATATA TATATATATATATGTA		CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(239): Show ATATATATGTGTATATATATATATATATATATATGTGTATATATATATAT ATATATATATATATGTGTATATATATATATATATATATGTGTATATATAT ATATATATATATATGTGTATATATATATATATATATATGTGTATATATAT ATATATATATATGTGTATATATATATATATATATATATATATGTGTATAT ATATATATATATATATGTGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0041 a0002c0002t0041	a0002c0002t0041g0288 a0002c0002t0041g0288	1	334	0.0030	246	c.290 others(261): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TGTGTATATATATATATATATATATATATATGTGTATATATATATATATA TATATGTGTATATATATATATATATATATATGTGTATATATATATATATA TATATGTGTATATATATATATATATATATGTGTATATATATATATATATA TATATATATGTGTATATATATATATATATATATGTGTATATATATATATA TATATATATATATGTA		CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(239): Show ATATATATGTGTATATATATATATATATATATATGTGTATATATATATAT ATATATATATATATGTGTATATATATATATATATATGTGTATATATATAT ATATATATGTGTATATATATATATATATATATGTGTATATATATATATAT ATATATGTGTATATATATATATATATATATATATATATATGTGTATATAT ATATATATATATATATGTGTATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0227 a0002c0002t0002g0227	1	334	0.0030	246	c.290 others(261): Show c.290-150_290-149insTATATGTGTATATATATATATATATATATA TGTGTATATATATATATATATATATATATATGTGTATATATATATATATA TATGTGTATATATATATATATATATGTGTATATATATATATATATATATG TGTATATATATATATATATATATGTGTATATATATATATATATATATATA TATATATGTGTATATATATATATATATATATATGTGTATATATATATATA TATATATATATATGTA		CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATAT others(239): Show ATATATATGTGTGTATATATATATATATATATATATATGTGTATATATAT ATATATATATATATATATGTGTATATATATATATATATATATATATATGT GTGTATATATATATATATATATATATATGTGTATATATATATATATATAT ATATATGTGTATATATATATATATATATATATATATGTGTATATATATAT ATATATATATATATGTGTATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0196 a0002c0002t0002g0196	1	334	0.0030	246	c.290 others(261): Show c.290-150_290-149insTATATGTGTGTATATATATATATATATATA TATATGTGTATATATATATATATATATATATATATGTGTATATATATATA TATATATATATATATGTGTGTATATATATATATATATATATATATGTGTA TATATATATATATATATATATATGTGTATATATATATATATATATATATA TATGTGTATATATATATATATATATATATATGTGTATATATATATATATA TATATATATATATGTA		CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar
CYP20A1_chr2_203234018_203311026	203251815	A A	ATATATGT others(239): Show ATATATGTGTGTATATATATATATATATATATATATGTGTATATATATAT ATATATATATGTGTATATATATATATATATATATGTGTATATATATATAT ATATATATGTGTATATATATATATATATATGTGTATATATATATATATAT ATGTGTATATATATATATATATATATATATATATGTGTATATATATATAT ATATATATATATGTGTATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0192 a0002c0002t0013g0192	1	334	0.0030	246	c.290 others(261): Show c.290-150_290-149insTATGTGTGTATATATATATATATATATATA TATGTGTATATATATATATATATATATGTGTATATATATATATATATATA TGTGTATATATATATATATATATATGTGTATATATATATATATATATGTG TATATATATATATATATATGTGTATATATATATATATATATATATATATA TGTGTATATATATATATATATATATATATGTGTATATATATATATATATA TATATATATATATGTA		CYP20A1	ENSG00000119004.17	transcript	ENST00000356079.9	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr2	TogoVar

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