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
PDCD6_chr5_266646_319974	318220	C C	CCAGCCTC others(662): Show CCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCCCCCCGCACCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCC CTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCC TCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCT CCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTCAC CTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCACCCT GCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCC ATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCC CAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTC CCCCCCGCACCCTGCACCTCCCACCCTTACCCTGCACCTCTCCCCATCTT TTACCTCCCCCCACCCTCCATCTCCCCCAACCCTGCACCTCCCCCATCCT TCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCT CCCCCTGCACCTCCCGCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp2 NA18994.hp1 NA19065.hp1 NA18943.hp2 NA18994.hp1 NA19065.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0007 a0001c0002t0001g0038 a0001c0002t0001g0007 a0001c0002t0001g0038	3	344	0.0087	669	c.37 others(680): Show c.3705_*3706insCAGCCTCCACCTCCCCCCTCACCCTCCACCTCCC CCCCGCACCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCT TCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCA CCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCC CCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCT CCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCA CCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCAC CCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCA ACCCTGCACCTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCC CTCACCCTCCACCTCCCCCCCGCACCCTGCACCTCCCACCCTTACCCTGC ACCTCTCCCCATCTTTTACCTCCCCCCACCCTCCATCTCCCCCAACCCTG CACCTCCCCCATCCTTCACCTCCCCCACTCACCCTCCACCTCCCCCCCAC CCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3247		chr5	TogoVar
PDXK_chr21_43714129_43767299	43741188	G G	GGGGGGCT others(662): Show GGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTGG CGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCG CGGGGGGGCTCGCGGGGGGCTGGCGGGGGCCTCGCGGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCT GGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGC TCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGC TCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGC GGGGGGGCTGGCGGGGGGCTCGCGGGCTCGCGGGGGGCTGGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGG GGGGCTCGCGGGGGGCTGGC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	308	0.0032	669	c.143 others(684): Show c.143-474_143-473insCTCGCGGGGGGCTGGCGGGGGGCTCGCGGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCAGGGGGGCTCGCGGGGGGC TGGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGG GGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGGC TCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTGGCGGGGGCCTCGCG GGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGG GCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGC GGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGG GGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGGGCTCGCGGGGGGCTGG CGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCTCGCGGGG GGCTGGCGGGGGGCTCGCGGGGGGGCTCGCGGGGGGGCTCGCGGGGGGCT CGCGGGGGGCTCGCGGGGGGGCTGGCGGGGGGCTCGCGGGCTCGCGGGGG GCTGGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTCGCGGGGGGGCTCG CGGGGGGCTCGCGGGGGGCTCGCGGGGGGCTGGCGGGGG	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
SBNO2_chr19_1102638_1179268	1164894	G G	GAGGAGGA others(662): Show GAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGA GGAACAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAACAGGTGCTAG GACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGAGGAGG AGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAGGAACAGGT GCTAAGACACTGTGGGGACGTCCCAGATGCCAGGGGCAGTGGAGACAGGA GGAGGAGGAGGAAGAGGAGGAGAAGGAGGAGGAGGAACAGGAGGAGGAGG AGGAGGAGGAACAGGAGGAGGAGGAGGAATAGGAGGAGGAGGAGGAGGAG GAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAACAGGA GGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGG AGGAACAGGAGGAGGAGGAGGAGGAACAGGAGGAGGAGGAGGAGGAGGAA CAGGAGGAGGAGGAGGAGGAACAGCAGGAGGAGGAGGCACAGGAGGAGGA GGAGGAGGCACAGGAGGAGGAGGAGAAGCACAGGAGGAGGAGGAGGAACA GGAGGAGGAGGAGGAGGCAC	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	1	149	0.0067	669	c.-12 others(688): Show c.-127+9277_-127+9278insGTGCCTCCTCCTCCTCCTCCTGTTCC TCCTCCTCCTCCTGTGCTTCTCCTCCTCCTCCTGTGCCTCCTCCTCCTCC TCCTGTGCCTCCTCCTCCTGCTGTTCCTCCTCCTCCTCCTCCTGTTCCTC CTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTCCT CCTCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGT TCCTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTCCTCCTATTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT CCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCTGT CTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCTTAGCACCTGT TCCTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTCCTCCTGTTCCTCCTC CTCCTCCTGTTCCTCCTCCTCCTTCTCCTCCTCTTCCTCCTCCTCCTCCT CCTGTCTCCACTGCCCCTGGCATCTGGGACGTCCCCACAGTGTCCTAGCA CCTGTTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTGTTCCTCCTCC TCCTCCTGTTCCTCCTCCTCCTCCTGTTCCTCCTCCTCCTCCT	SBNO2	ENSG00000064932.16	transcript	ENST00000361757.8	protein_coding	1/31			chr19	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(662): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0095 a0001c0001t0002g0095	1	40	0.0250	669	c.77- others(686): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCC CCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCC CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(662): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCT CCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCT CCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTC CCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCTCCCC CTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	45	0.0222	669	c.22+ others(686): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCCCCCCTCCCCTCC CCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCC CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCC CTCCCCACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCTCCCCTCCCCCCTCCCCAC CCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCC CTCCCCCTCCCCTCCCCCTTTCCCTTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SLC24A3_chr20_19207642_19727926	19663413	C C	CTCCTCCT others(662): Show CTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCACCT CCTCCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCTCCTGCACCTCCT CCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCAC CTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCT CCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCACCTCCTCCTCC TCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTC CTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCT CCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCC TCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTC CTCCTCCACCTCCACCTCCTCCTCCACCTCCACCTCCTCCTCCACCTCCA CCTCCACCTCCTCCTCCACT	intron_variant intron_variant	MODIFIER	NA18939.hp1 NA18939.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0002 a0002c0006t0002	a0002c0006t0002g0139 a0002c0006t0002g0139	1	89	0.0112	669	c.688 others(686): Show c.688-2442_688-2441insACCTCCTCCTCCTCCACCTCCTCCTCCT CCTCCTCCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTTCTCCTCCTCCTCCAC CTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCTACCT CCTGCACCTCCTCCTCTACCTCCTGCACCTCCTCCTCCTCCTCCACCTCC TCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTC CTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCT CCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCC ACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTC CACCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCA CCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCACCTCCTCCTCCTCCACC TCCTCCTCCTCCTCCACCTCCTCCTCCTCCTCCACCTCCTCCTCCTCCTC CACCTCCTCCTCCTCCTCCACCTCCACCTCCTCCTCCACCTCCACCTCCT CCTCCACCTCCACCTCCACCTCCTCCTCCACTTCCTCCTCC	SLC24A3	ENSG00000185052.13	transcript	ENST00000328041.11	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(662): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGAG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAA GAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAG GAAGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02109.hp1 HG02300.hp2 others(1): Show HG02080.hp2 HG02109.hp1 HG02300.hp2 NA18964.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0046 a0001c0001t0001g0116 a0002c0003t0001g0068 others(1): Show a0001c0001t0001g0046 a0001c0001t0001g0116 a0002c0003t0001g0068 a0002c0003t0001g0107	4	5	0.8000	669	c.624 others(684): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCT CCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCT CCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCT CCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCC TCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTAT TCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCC TTCCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(662): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAGG AGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGGA GAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGGA GGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAGT GAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAAG GAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGAG GAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGGG GGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGAG GAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAGA AGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGAG GAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAAA GAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGAGAAAG GAAGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0013 a0013	a0013c0010 a0013c0010	a0013c0010t0001 a0013c0010t0001	a0013c0010t0001g0197 a0013c0010t0001g0197	1	2	0.5000	669	c.624 others(684): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCTTCCTTTCTCCCT CCTCCTCCCCTCCTCCTTTCTCCCTCCTCCTCCCGGACTCTTTCCTCTCC TCCTCCCCCTCCTTCCTCCTTTCTGCCTCCTCCTCCCCTCCTCCTTCCTC TCCTCCTCCTCCTCTCTTCCTTCCTCTCCTCCTCCCCTCTTCTCTCCTCC TCCCCTCCTTCCTCTCCTCCTCCTCCCCTCCTCTTCTCTCCTCCTCCCCT CCTCCTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCCCTTCTCTC CTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCCT CCTTTCTCCCTCCTCCTCCCTTCCTTTCTCCCTCCTCCTCCTTCCCTCCT CCTTTCTCTTCTTTTCTCCCACTTCTCCCTCCTCCCCTTCACTTCCTCCT CCTCCCCTTTCTCCCTCCTCCTCTTCTCCTCTTTTGTCCCTCCTCTCCCT CCTCCCTTTCACCTTTTCCTCCTCCTCCCCTCCTCCTTTCTCCCTCCCCC TCCCCTCATCTTTTCTCCCTCCTCCTCCTCTCCTCTTTCTCCTCCTCTAT TCTCCCTCCTCTCCCTTCTCCCCCTTCACTTCTTCCTTCTCCTTCTTTCC TTCCTCCTCCTCCTCTCTTTTCTCCCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(662): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TAATATAAATATATTATATATAATATATATAATATATATATTATATATAA TATATATAATATATATATTATATATATTATATATATTATATATAATATAA ATATATTATATATAATATATATAATATAAATATATTATATATAATATATA TAATATAAATATATTATATATATTATATATAATATAAATATATTATATAT ATTATATATAATATAAATATATTATATATATTATATATAATATAAATATA TTATATATATTATATATAATATAAATATATTATATATATTATATATAATA TAAATATATTATATATATTATATATAATATAAATATATTATATATATTAT ATATAATATAAATATATTATATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATATTATATATATTATATATAATATAAAT ATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02280.hp2 HG02132.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0139 a0001c0001t0004g0158 a0001c0001t0003g0139 a0001c0001t0004g0158	2	133	0.0150	669	c.-70 others(686): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATATTATATATAATATATTTATATTA TATATAATATATATAATATATATAATATATATATTATATATATTATATAT AATATATATATTATATATATTATATATAATATATTTATATTATATATTAT ATATAATATATTTATATTATATATTATATATAATATATTTATATTTATAT AATATATAATATATTTATATTTATATATAATATATATAATATATTTATAT TTATGTATAATATATATAATATATTTATATTTATGTATAATATATATAAT ATATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(662): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TAATATAAATATATTATATATAATATATATATTATATATATTATATATAA TATATATAATATATATATTATATATATTATATATATTATATATAATATAA ATATATTATATATATTATATATAATATAAATATATTATATATAATATATA TAATATAAATATATTATATATATTATATATAATATAAATATATTATATAT ATTATATATAATATAAATATATTATATATATTATATATAATATAAATATA TTATATATATTATATATAATATAAATATATTATATATATTATATATAATA TAAATATATTATATATATTATATATAATATAAATATATTATATATATTAT ATATAATATAAATATATTATATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATATTATATATATTATATATAATATAAAT ATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0162 a0001c0001t0003g0162	1	132	0.0076	669	c.-70 others(686): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATAATATATATAATATATTTATATTATATATATT ATATATAATATATTTATATTATATATAATATATATAATATATTTATATTA TATATAATATATATAATATATATAATATATATATTATATATATTATATAT AATATATATAATATATATATTATATATAATATATTTATATTATATATTAT ATATAATATATTTATATTATATATTATATATAATATATTTATATTTATAT AATATATAATATATTTATATTTATATATAATATATATAATATATTTATAT TTATGTATAATATATATAATATATTTATATTTATGTATAATATATATAAT ATATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(662): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATAAATATATTATATATAATATA TATAATATATATATTATATATAATATATATAATATATATATTATATATAT TATATATATTATATATAATATAAATATATTATATATAATATATATAATAT AAATATATTATATATAATATATATAATATAAATATATTATATATATTATA TATAATATAAATATATTATATATATTATATATAATATAAATATATTATAT ATATTATATATAATATAAATATATTATATATATTATATATAATATAAATA TATTATATATTATATATAATATAAATATATTATATATATTATATATAATA TAAATATATTATATATATTATATATAATATAAATATATTATATATATTAT ATATAATATAAATATATTATATATATTATATATAATATAAATATATTATA TATATTATATATAATATAAATATATTATATATATTATATATAATATAAAT ATATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0152 a0001c0001t0003g0152	1	132	0.0076	669	c.-70 others(686): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATAATATATTTATA TTATATATAATATATATAATATATTTATATTATATATAATATATATAATA TATTTATATTATATATAATATATATAATATATTTATATTATATATAATAT ATATAATATATTTATATTATATATATTATATATAATATATTTATATTATA TATATTATATATAATATATTTATATTATATATAATATATATAATATATAT AATATATATATTATATATATTATATATAATATATATATTATATATATTAT ATATAATATATTTATATTATATATTATATATAATATATTTATATTTATAT AATATATAATATATTTATATTTATATATAATATATATAATATATTTATAT TTATGTATAATATATATAATATATTTATATTTATGTATAATATATATAAT ATATTTATATTTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGAAGGA others(662): Show AGGAAGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGGAGGAAGGAAGGGGA GGAAGGGAGGGGGGAGGGTGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGA GAGGGGGAGGAGGGAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGA GGGGAGGGCAGAGGAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGA GAGGAGAGGGGAGGGGGAAGGGGGACGGGGAGAGGGGAGGGGAGGGCAGA GGAGGGGAAGGGGAGGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGAG GGGGAGGGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGAGGAGGGAGGG GAGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAG GGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGGAGGAGGGGGGGAGG AGGGAGGGGGAGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGA GGGAGGGGGAGGGGAGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGGG AGGAGGGAGGGGAGGAGGGAGGGGGAGGGGGGAAGGGGGAAGGGGGAGGA GGGAGGGGAGAGGGGAGGGGGGAGGGGGGAGAGGGGGAGAGGAGGGGGAG GGGGAGGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	3	0.3333	669	c.12 others(680): Show c.1218_*1219insCTCTCCCGCCACCCCTCCCCCTCCCCCTCCTCTC CCCCTCTCCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCC CCTTCCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCC CCTCCCTCCTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCC CTTCCCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCCTCCT CCCCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCC TCCCCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCTCCCCTCCCTCCTCCC CTTCCCCATCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCTC CCTCCTCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTC CCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCT CCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCT CTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGCCC TGCCCTCCCCTCCCCACACCCTCCCCCCTCCCTTCCTCCCCTTCCTTCCT CCCCTCCCTCCCTCCCTCCCTCCCTCCCTCCTTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SNPH_chr20_1261294_1314327	1302498	A A	ATTTCTAA others(662): Show ATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCC ATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCA AAATAAACCCCATTCCCATTAGCAATCACCGCCAGTTTCTAATTTCATCA ATATTTCTATCACCTCAAAATAAACCCCATTCCCATAGCAATCACCGCCA ATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCC ATTAGCAATCACCGCCAGTTTCTAATTTCATCAATATTTCTATCACCTCA AAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCA ATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCC AATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCC CATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTC AAAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATC AATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGC CAATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTC CCATTAGCAATCACCGCCAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0204 a0001c0001t0002g0204	1	189	0.0053	669	c.440 others(686): Show c.440+1926_440+1927insAATTTCATCAATATTTCTATCACCTCAA AATAAACCCCATTCCCATAGCAATCACCGCCAATTTCTAATTTCATCAAT ATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCAG TTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCCA TTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCAA AATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCAA TATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCCA ATTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCCC ATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTCA AAATAAACCCCATTCCCATTAGCAATCACCGCCAATTTCTAATTTCATCA ATATTTCTATCACCTCAAAATAAACCCCATTCCCATTAGCAATCACCGCC AGTTTCTAATTTCATCAATATTTCTATCACCTCAAAATAAACCCCATTCC CATTAGCAATCACCGCCAATTTCTAATTTCATCAATATTTCTATCACCTC AAAATAAACCCCATTCCCATTAGCAATCACCGCCAGTTTCT	SNPH	ENSG00000101298.15	transcript	ENST00000381867.6	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr20	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(662): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTT ATATAATATATAAAATATATTATAGTTTATATAATATATACACATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATAAACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0186 a0001c0001t0001g0186	1	82	0.0122	669	c.12+ others(684): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATAT ATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATA TAATATATACACATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATAAACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(662): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGT TTATATAATATATAAACATATATTATAGTTTATATAATATATAAAATATA TTATAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATAA AATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATAT ACACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	82	0.0122	669	c.12+ others(684): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATTA TAGTTTATATAATATATAAAATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATACACATATAT TATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SNX9_chr6_157818246_157950077	157827466	C C	CATATATT others(662): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAATATATATTATAGTTTATATAATATATAAAATATATTATAGTT TATATAATATATAAAATATATTATAGTTTATATAATATATAAAATATATT ATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATACA CATATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAA TATATACACATATATTATAGTTTATATAATATATACACATATATTATAGT TTATATAATATATACACATATATTATAGTTTATATAATATATACACATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATA TAATATATAAACATATATTATAGTTTATATAATATATAAACATATATTAT AGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATA TATAAACATATATTATAGTTTATATAATATATAAACATATATTATAGTTT ATATAATATATAAACATATA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0179 a0001c0001t0001g0179	1	82	0.0122	669	c.12+ others(684): Show c.12+4020_12+4021insATATATTATAGTTTATATAATATATAAACA TATATTATAGTTTATATAATATATAAATATATATTATAGTTTATATAATA TATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGTTTAT ATAATATATAAAATATATTATAGTTTATATAATATATACACATATATTAT AGTTTATATAATATATACACATATATTATAGTTTATATAATATATACACA TATATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATA TATACACATATATTATAGTTTATATAATATATACACATATATTATAGTTT ATATAATATATACACATATATTATAGTTTATATAATATATAAACATATAT TATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATATAA ACATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATAAACATATATTATAGTTTATATAATATATAAACATA TATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATA TAAACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SORCS2_chr4_7187538_7747827	7454405	G G	GTGCTGTG others(662): Show GTGCTGTGTTGGGGTCAGGCTCCGTGTTGGAGTCAGGCTCCGTGTTAGTG TCATGCGCCACGTTAGGGTCAGGCAGTGTGTTGGGGTCAGGTGCTGTGTG TTGGGGTCAGATGCTGTGTTGGGGTCAGCTGCTGTGTTGGGGTCAGGCAC TGTGTTGGGGTCAGGAGCTGTGTGTTGGGGTCAGGTGCTGTGTTGGGGTC AGGCACTGTGTGTTGGGGTCAGGTGCTGTGTGTTGGGGTCAGGCACTGTG TTGGGGTCAGGCTCTGTGTTGGGGTCAGGCTCCGTGTTGGGGTCAGGCGC TATGTTGGGGTCAGGAGCTGTGTGTTGGGGTCAGGTGCTGTGTTGGGGTC AGGCACTGTGTTGGGGTCAGTGCTGTGTGTTGGGGTCTGGTGCTGTGTTG GGGTCAGGCACTGTGTTGGGGTCTGGTGCTGTGTGTTGGGGTCAGGTGCT GTGTTGGGGTCAGGTGCTGTGTGTTGGGGTCAGGTGCTGTGTTGGGGTCA GGCACTGTGTTGGGGTCAGGTGCTGTGTGTTGGGGTCAGGAGCTGTGTGT TGGGGTCAGGTGCTGTATTGGGGTCAGGCTCCGTGTTAGTGTCATGCGCC ACGTTAGGGTCAGGCAGTGTGTTGGGGTCAGGTGCTGTGTGTTGGGGTCA GATGCTGTGTTGGGGTCAGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02809.hp2 HG01069.hp1 HG01071.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0028 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0003g0028 a0001c0002t0007g0158 a0001c0002t0007g0159	3	168	0.0179	669	c.548 others(688): Show c.548+58100_548+58101insCATGCGCCACGTTAGGGTCAGGCAGT GTGTTGGGGTCAGGTGCTGTGTGTTGGGGTCAGATGCTGTGTTGGGGTCA GCTGCTGTGTTGGGGTCAGGCACTGTGTTGGGGTCAGGAGCTGTGTGTTG GGGTCAGGTGCTGTGTTGGGGTCAGGCACTGTGTGTTGGGGTCAGGTGCT GTGTGTTGGGGTCAGGCACTGTGTTGGGGTCAGGCTCTGTGTTGGGGTCA GGCTCCGTGTTGGGGTCAGGCGCTATGTTGGGGTCAGGAGCTGTGTGTTG GGGTCAGGTGCTGTGTTGGGGTCAGGCACTGTGTTGGGGTCAGTGCTGTG TGTTGGGGTCTGGTGCTGTGTTGGGGTCAGGCACTGTGTTGGGGTCTGGT GCTGTGTGTTGGGGTCAGGTGCTGTGTTGGGGTCAGGTGCTGTGTGTTGG GGTCAGGTGCTGTGTTGGGGTCAGGCACTGTGTTGGGGTCAGGTGCTGTG TGTTGGGGTCAGGAGCTGTGTGTTGGGGTCAGGTGCTGTATTGGGGTCAG GCTCCGTGTTAGTGTCATGCGCCACGTTAGGGTCAGGCAGTGTGTTGGGG TCAGGTGCTGTGTGTTGGGGTCAGATGCTGTGTTGGGGTCAGCTGCTGTG TTGGGGTCAGGCTCCGTGTTGGAGTCAGGCTCCGTGTTAGTGT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRSF9_chr12_120456672_120474748	120467991	A A	AGCTGAGG others(662): Show AGCTGAGGCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAG CGGAGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCG TCTCAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTC TCTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGAT GTAGTGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGA GATTCTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCA CCACGCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATG TTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGC CTCCTAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATC CTCAATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGG TGGCTCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATC ACCTCAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCG TCTCTACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTA TAATCCCAGCTACTCAGGAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp2 NA18906.hp1 others(1): Show HG02257.hp1 HG02622.hp2 NA18906.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0053 a0001c0001t0004g0024 a0001c0001t0001g0053 a0001c0001t0004g0024	4	5	0.8000	669	c.188 others(686): Show c.188+1430_188+1431insGTCCTGAGTAGCTGGGATTATAGGCATG CGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTT CTCCTTGTTGGTCAGGCTGGTCTCGAATTCCCGACCTGAGGTGATCCGCC CGCCTCAGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACCTCACCC GGCCTGTATGGTTAACCAGATTTTACAGATCAGGATATTGAGGATTTAGA GTTACTGATAGAAAGCTAGTGGCAATCCCAGCACTTTAGGAGGCCGAGGC GGGCGGATCACAAGGTCAAGAGATCGAGACCATCCTGGCCAACATGGTGA AACCCCGTCTCTACTAAAAATACAAAAATGAGCTGGGCGTGGTGGCGCGC GCCTGTAGTCCCAGTTCCTCGGGAGGCTGAGGCAGGAGAATCTCTTGAAC CCGGGAGGCGGAGGTTGCAGTGAGCCGAGATGGCGCCACTACATCCCAGC CTGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAGAGAAAAAGT TCGAGGGATTTGTTTTTTTTATTTTTCTTTATTTTTTTGAGACGGAGTTT TGCTCTTGTTGCCCAGGCTGGAGTGCGATGTCACTGTCTCCGCTCACTGC AACCTCGGCCTCCCAGGTTCAATCGATTCTTCTGCCTCAGC	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
TERT_chr5_1248167_1300068	1273332	A A	ACATCAGA others(662): Show ACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGA CCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCTACGACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAT CAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCGC CATCCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACC ACACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCAC GACCGCCATCCACAGTCACCACACATCAGACCCCCGGGACCAACCGCCAT CCACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACA TCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACCCCACGACCG CCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCA CACATCAGACCCTACGACCGCCATCCACAGTCACCACACATCAGACCCCA CGACCGCCATCCACAGTCAC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	357	0.0028	669	c.228 others(688): Show c.2287-1053_2287-1052insGTGACTGTGGATGGCGGTCGTGGGGT CTGATGTGTGGTGACTGTGGATGGCGGTCGTAGGGTCTGATGTGTGGTGA CTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCG TGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGT GACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCG GTTGGTCCCGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGG TCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGAC TGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTC GTGGGGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGG TGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGC GGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTG ATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTAGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGG GGTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TH_chr11_2158929_2176815	2161948	C C	CACCCCTG others(662): Show CACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTA TCCCCACACCCCTGTCCCCCACACCCCTGTCCCCAGGACCCCTGTCCCCA CACCCCTGTCCCCAGACCCCTGTCCCCACACCTCTGTCCCCCGGACCCCT GTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCAC ACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGGACCCCTGTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCA CACCCCTATCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTG TCCCCAGGACCCCTGTCCCCCACACCCCTGTCCCCAGGACCCCTGTCCCC ACACCCCTGTCCCCACACCCCTGTCCCCACACCCCTGTCCCCACACCCCT GTCCCCAGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCA CACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTG TCCCCCGGACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCAC ACCCCTGTCCCCACACCCCTGTCCCCAGACCCCTGTCCCCACACCCCTGT CCCCAGGACCCTGTCCCCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0062 a0001c0003t0001g0062	1	12	0.0833	669	c.22 others(680): Show c.2284_*2285insCCGGGGACAGGGTCCTGGGGACAGGGGTGTGGGG ACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGT CTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGACAGGGGTGTGGGGA CAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTC TGGGGACAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGAC AGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCC TGGGGACAGGGGTGTGGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGACAGGGGTG TGGGGACAGGGGTCCTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTCCTGGGGACAGGGGTGTGGGGACAGGGGT GTGGGGACAGGGGTGTGGGGACAGGGGTGTGGGGACAGGGGTCCGGGGGA CAGAGGTGTGGGGACAGGGGTCTGGGGACAGGGGTGTGGGGACAGGGGTC CTGGGGACAGGGGTGTGGGGGACAGGGGTGTGGGGATAGGGGTGTGGGGA CAGGGGTGTGGGGACAGGGGTCTGGGGACAGGGGT	TH	ENSG00000180176.15	transcript	ENST00000352909.8	protein_coding		1980		chr11	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(662): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCTTCTTCCTCCTCC CCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCTGCT CCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCCTCC TCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCTCCT CTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCTCCT GCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTCCTC CTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCCGCTTCTCT TTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTT CTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCCTCT CCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCC TCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCACTTCTCTTTCTCCTCC TCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCCCTCCTC TCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCT TCCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	8	0.1250	669	c.424 others(686): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCTTC TTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCT CTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCT TTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCC TCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCC TCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCT TCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCT CCGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCC TCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCT CCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCCC TTCCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCACTTCTC TTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTC CCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTC CTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
VCX3B_chrX_8459830_8471510	8467226	G G	GGGAGGGG others(662): Show GGGAGGGGGAAGAGGAGGTTGTGTGGGAGGGAGGGAGGAAGAGGTGGTGG TGTGAGGAGGGAGGGAGGGAAGAGGTGTGTGGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGAGGGAGGGA GGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGT GTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGA GGGGTGGGAGGAAGAGGGTGGTGTGGTGGGGGAGGGAGGGAGAGGTGGTG TGTGGGGGAGGGAGGGAGGATGAGGTGTGTGGGGAGGGAGGGGAGGGGAG GAGGATGAGGTGGTGTGTGGGGAGGGAGGGTGGGGGAAGAGGAGGTGTGT GGGGAGGGTGGGAGGGAGGGGGGAGAGGAGGTGGTGGGGGGGGTGGTAGG GTGGAAGTGGGTGGTGTGTGTGGGGGGAGGGTGGATGAGGTGTGTGGGGA GGGAGGAAGAGGTGGTGTGTGGGGGGGGAGGGTGGGTGGAAGGGAGGTGT GTGGGTGGGAGGGTGGGTGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGGAGGTAGTGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGAGGGAGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0009 a0004c0005t0001g0009	1	269	0.0037	669	c.84 others(678): Show c.843_*844insGGAGGGGGAAGAGGAGGTTGTGTGGGAGGGAGGGAG GAAGAGGTGGTGGTGTGAGGAGGGAGGGAGGGAAGAGGTGTGTGGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTG TGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGGTGGGAGGAAGAGGGTGGTGTGGTGGGGGAGGGA GGGAGAGGTGGTGTGTGGGGGAGGGAGGGAGGATGAGGTGTGTGGGGAGG GAGGGGAGGGGAGGAGGATGAGGTGGTGTGTGGGGAGGGAGGGTGGGGGA AGAGGAGGTGTGTGGGGAGGGTGGGAGGGAGGGGGGAGAGGAGGTGGTGG GGGGGGTGGTAGGGTGGAAGTGGGTGGTGTGTGTGGGGGGAGGGTGGATG AGGTGTGTGGGGAGGGAGGAAGAGGTGGTGTGTGGGGGGGGAGGGTGGGT GGAAGGGAGGTGTGTGGGTGGGAGGGTGGGTGGAGAGGTGGTGTGTGGGG AGGGAGGGAGGGAGGGAGGTAGTGGTGTGTGGGGAGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGAGGGAGGGT	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		717		chrX	TogoVar
WDR64_chr1_241647281_241807777	241675123	C C	CCTTCCTT others(662): Show CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTC CCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTC CTGCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCC TCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTCCTTCCTCCCTCCCT CCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCC TCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCT CCCTCACCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCC TTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCCTCCC TCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTT	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0258 a0001c0001t0001g0258	1	25	0.0400	669	c.483 others(684): Show c.483+381_483+382insTTCCTCCCTCCCTCCTTCCTTCCTCCCTCC CTCCTTCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTGCC TCCCTCCCTCCTTCCTGCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTCCT TCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCTTC CTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCTTCCTTCCTCCCTCCCTT CCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTC CCTCCTTCCTTCCTCCCTCACCCTCCTTCCTTCCTCCCTCCCTCCTTCCT TCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTGCCTCCCTCCCT CCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTC CCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTC CTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTTCTTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
ZFYVE28_chr4_2264597_2423645	2299660	G G	GGGAAGGG others(662): Show GGGAAGGGAGGGGAGGGAGGGAGGGGAGGGAGGGGAGGGAGGGAAGGGGA GGGAGTGGAGGGAAGGGGAGGGAGGGGAGGGAGGGGAGGGAAGGGGAGGG AGGGGAGGGAAGGGGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGG AGGGAGGGAAGTGAGGGGAGGGAGGGAGAGAAGTGAGGGGAGGGAGGGAG AGAAGTGAGGGGAGGGAGGGAGGGAAGGGAGGGAGGGGAGGGGAGGGAGG GAGGGGAGGGAGGGGAGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAG GGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTGAGGG GAGCGAGGGAGGGAAGGCAGGGAGGGGAGGGGAGGGAGGGGAGGGAGGGG AGGGAGGGAAGGGGAGGGAGGGGAGGGAAGGGGAGGGAGGGGAGGGAAGG GGAGGGAGGGGAGGGAGGGAGGGAAGTGAGGGGAGGGAGGGAGGGAAGTG AGGGGAGGGAGGGAGGGAAGGCAGGGAGGGGAGGGAGGGAGGGAAGGGAG GGGAGGGAGGGAGGGAAGTGAAGGAAAGGGAAAGAGGGAGGGAGGGAAGG GAAGGGAAGGGAAGGGAGGGGAGGGTGGGGAGGGTGGGATGAAGGAAATG GAAAGAAAGGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0017 a0017	a0017c0045 a0017c0045	a0017c0045t0003 a0017c0045t0003	a0017c0045t0003g0085 a0017c0045t0003g0085	1	72	0.0139	669	c.205 others(688): Show c.2051+4628_2051+4629insTTCTTTCTTTCCTTTCTTTCCATTTC CTTCATCCCACCCTCCCCACCCTCCCCTCCCTTCCCTTCCCTTCCCTTCC CTCCCTCCCTCTTTCCCTTTCCTTCACTTCCCTCCCTCCCTCCCCTCCCT TCCCTCCCTCCCTCCCCTCCCTGCCTTCCCTCCCTCCCTCCCCTCACTTC CCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCC CTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTC CCTCCCCTCCCTCCCCTCCCCTCCCTGCCTTCCCTCCCTCGCTCCCCTCA CTTCCCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCC TTCCCTCCCCTCCCTCCCCTTCCCTCCCTCCCCTCCCTCCCCTCCCTCCC TCCCCTCCCCTCCCTCCCTTCCCTCCCTCCCTCCCCTCACTTCTCTCCCT CCCTCCCCTCACTTCTCTCCCTCCCTCCCCTCACTTCCCTCCCTCCCTCC CCTCACTTCCCTCCCTCCCTCCCCTCCCTCCCCTTCCCTCCCCTCCCTCC CCTTCCCTCCCCTCCCTCCCCTCCCTCCCCTTCCCTCCACTCCCTCCCCT TCCCTCCCTCCCCTCCCTCCCCTCCCTCCCTCCCCTCCCTTCC	ZFYVE28	ENSG00000159733.14	transcript	ENST00000290974.7	protein_coding	8/12			chr4	TogoVar
ABCC1_chr16_15944616_16148053	15999866	C C	CCTTCCTT others(663): Show CCTTCCTTCCTTCCTTCCTTCCTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0172 a0001c0002t0004g0172	1	209	0.0048	670	c.49- others(685): Show c.49-7950_49-7949insCTTCCTTCCTTCCTTCCTTCCTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	ABCC1	ENSG00000103222.20	transcript	ENST00000399410.8	protein_coding	1/30			chr16	TogoVar
ABR_chr17_998519_1184981	1118421	T T	TTCCTCCC others(663): Show TTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTG AGCCTGAGTTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCG TTATCCCTGAGCCTGAGTCCTCCCCAGCGTTATCCCTGAGCCTGAGTTCC TCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCC TGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCCTCCCAGCGTTATC CCTGAGCCTGAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCTCCCCA GCGTTATCCCTGAGCCGGAGTTCCTCCCAGCATTATCCCTGAACCCGAGT TCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCATTATCCCTGA GCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTCCCAGCGTT ATCCCTGAGCCCGAGTTCCTCCCAGCGTTATCCCTGAGCCCGAGTTCCTC CCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTAACCCTGAGCCT GAGTTCCTCCCAGCGTTATCCCTGAGCCTGAGTTCTCCCCAGCGTTATCC CTGAGCCTGAGTCCTCCCAGCGTTATCCCTGAGCCTGAGTCCCTCCCAGC GTTATTGCCTGAGCCTGAGTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0082 a0001c0003t0082	a0001c0003t0082g0286 a0001c0003t0082g0286	1	329	0.0030	670	c.246 others(687): Show c.246+6761_246+6762insGACTCAGGCTCAGGCAATAACGCTGGGA GGGACTCAGGCTCAGGGATAACGCTGGGAGGACTCAGGCTCAGGGATAAC GCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCA GGGTTAACGCTGGGGAGAACTCAGGCTCAGGGATAACGCTGGGGAGGAAC TCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGATAACGCTG GGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGGCTCAGGGA TAATGCTGGGAGGAACTCGGGCTCAGGGATAACGCTGGGAGGAACTCGGG TTCAGGGATAATGCTGGGAGGAACTCCGGCTCAGGGATAACGCTGGGGAG GACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACG CTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTCAGGCTCAG GGATAACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGAACTC AGGCTCAGGGATAACGCTGGGGAGGACTCAGGCTCAGGGATAACGCTGGG AGGAACTCAGGCTCAGGGATAACGCTGGGGAGGAACTCAGGCTCAGGGAT AACGCTGGGAGGAACTCAGGCTCAGGGATAACGCTGGGAGGA	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	2/22			chr17	TogoVar
ABR_chr17_998519_1184981	1153708	T T	TCCAGGCA others(663): Show TCCAGGCACACCTGCGGGGAGGGCTGGGGGTCCAGTCACACCTGCGGGAG GGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACC TACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCA GGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTG GGGGTCCAGGCACACCTGCGGGAGGGCTAGGGATCCAGGCACACCTGCGG GAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGGGGGTCCAGGCAC ACCTGCGGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGG TCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGG GCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCT ACGGGAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTAGGGATCCAG GCACACCTGCGGGAGGGCTGGGGGTCCAGGCACACCTACGGGAGGGCTGG GGGTCCAGGCACACCTGCGGGGAGGGCTGGGGGTCCAGGCACACCTGCGG GAGGGCTGGGGGTCCAGGCACACCTGCGGGAGGGCTGGGGGTCCAGGCAC ACCTGCGGGAGGGCTGGGGAC	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0173 a0001c0002t0002g0173	1	309	0.0032	670	c.61+ others(687): Show c.61+25958_61+25959insGTCCCCAGCCCTCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGG TGTGCCTGGACCCCCAGCCCTCCCCGCAGGTGTGCCTGGACCCCCAGCCC TCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGATC CCTAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTG CCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCG CAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAG CCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCCGCAGGTGTGCCTG GACCCCCAGCCCTCCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGG TGTGCCTGGATCCCTAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCT CCCGTAGGTGTGCCTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCC CCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGTAGGTGTGC CTGGACCCCCAGCCCTCCCGCAGGTGTGCCTGGACCCCCAGCCCTCCCGC AGGTGTGACTGGACCCCCAGCCCTCCCCGCAGGTGTGCCTGG	ABR	ENSG00000159842.16	transcript	ENST00000302538.10	protein_coding	1/22			chr17	TogoVar
ACER1_chr19_6301142_6338612	6318734	T T	TGAGATCG others(663): Show TGAGATCGTGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATC TCAAAATAAATAAATAAATAAATAAAATGTTCATGCCTCCTGTAAATAAA ATCTAAACTCTTTTTTTTTGAGATGGAGTTCTCTCTGTTCCCCAGGCTGG AGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCG CCGCCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCAC CGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCAGCCGCCT CAGCCTCCCAAGTGCTGGGATTACAGGTGAGAGCCACCGCGCCCGGCCAA AATCTAAACTCTTAAACTTGCCTTATAAAATTATTCCTGGCCGGGCGTCG TGGCTCACGCCTATAATCCCAGCACTTTGGGAGGTTGAGGCAGGCGGATC ACGAAGTCAGGAGATCGAGACCATCCTGGCTGACACGGTGAAACGCCGTC TCTACTAAAAAATACAAAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGG AGGCGGAGGTTGCAGTGAGCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG03579.hp2 HG01884.hp2 HG02109.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0342 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0342	3	205	0.0146	670	c.94- others(685): Show c.94-6236_94-6235insGGCTCACTGCAACCTCCGCCTCCCGGATTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCATGCCCGGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGCGTT TCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCT GCCTCAACCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACGACGCCCG GCCAGGAATAATTTTATAAGGCAAGTTTAAGAGTTTAGATTTTGGCCGGG CGCGGTGGCTCTCACCTGTAATCCCAGCACTTGGGAGGCTGAGGCGGCTG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCGGCGGGCACCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGG GGAACAGAGAGAACTCCATCTCAAAAAAAAAGAGTTTAGATTTTATTTAC AGGAGGCATGAACATTTTATTTATTTATTTATTTATTTTGAGATGGAGTC TTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTC	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ACER1_chr19_6301142_6338612	6318734	T T	TGAGATCG others(663): Show TGAGATCGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATC TCAAAATAAATAAATAAATAAATAAAATGTTCATGCCTCCTGTAAATAAA ATCTAAACTCTTTTTTTTTGAGATGGAGTTCTCTCTGTTCCCCAGGCTGG AGTGCAGTGGCACGATCTCAGCTCACTGCAAGCTCCGCCTCCCGGGTTCA CGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTGCCCG CCGCCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCAC CGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCAGCCGCCT CAGCCTCCCAAGTGCTGGGATTACAGGTGAGAGCCACCGCGCCCGGCCAA AATCTAAACTCTTAAACTTGCCTTATAAAATTATTCCTGGCCGGGCGTCG TGGCTCACGCCTATAATCCCAGCACTTTGGGAGGTTGAGGCAGGCGGATC ACGAAGTCAGGAGATCGAGACCATCCTGGCTGACACGGTGAAACGCCGTC TCTACTAAAAAATACAAAAAAAATTAGCCGGGCATGGTGGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAATCCGGG AGGCGGAGGTTGCAGTGAGCC	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02145.hp2 HG02451.hp1 others(11): Show HG00741.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02896.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03540.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 others(11): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0149 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0189 a0001c0001t0001g0289 a0001c0001t0004g0147 a0001c0003t0001g0376 a0001c0004t0001g0386 a0001c0004t0001g0388	14	216	0.0648	670	c.94- others(685): Show c.94-6236_94-6235insGGCTCACTGCAACCTCCGCCTCCCGGATTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCATGCCCGGCTAATTTTTTTTGTATTTTTTAGTAGAGACGGCGTT TCACCGTGTCAGCCAGGATGGTCTCGATCTCCTGACTTCGTGATCCGCCT GCCTCAACCTCCCAAAGTGCTGGGATTATAGGCGTGAGCCACGACGCCCG GCCAGGAATAATTTTATAAGGCAAGTTTAAGAGTTTAGATTTTGGCCGGG CGCGGTGGCTCTCACCTGTAATCCCAGCACTTGGGAGGCTGAGGCGGCTG GATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC CATCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGCGGCGGGCACCT GTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGG GAGGCGGAGCTTGCAGTGAGCTGAGATCGTGCCACTGCACTCCAGCCTGG GGAACAGAGAGAACTCCATCTCAAAAAAAAAGAGTTTAGATTTTATTTAC AGGAGGCATGAACATTTTATTTATTTATTTATTTATTTTGAGATGGAGTC TTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACGATCTC	ACER1	ENSG00000167769.5	transcript	ENST00000301452.5	protein_coding	1/5			chr19	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(663): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCCTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCACCCATTCATCCATCCACCCATCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCACCCACTCATCCATCCACCCATCCATTCATCCATTCACC CACCCACTCATCCATCCACCCATCCATTCACCCACCCATTTACCTACCCA TTAATTCACCCACCCTTCCACCACCCACCCACCCATCCATATACCCACCC ACCCATTCACCCATCCATTCATCCATCCACCCACCCACCCATTCACCCAC CCACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATTCACCTATC CACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0080 a0002c0002t0080	a0002c0002t0080g0165 a0002c0002t0080g0165	1	7	0.1429	670	c.775 others(685): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGTGAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGG ATGAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGGATGAATGGAT GGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGG ATGAATGGATGGGTGGATGGATGAATGGGTGGGTGGATGGATGAATGGGT GGGTGAATGGATGAATGGGTGGGTGGATGGATGAATGGATGGGTGGATGG ATGAATGGGTGGGTGAATGGATGAATGGGTGGGTGGATGGATGAATGGGT GGGTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTG ATGGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAAGGGTG GGTGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGA TGAGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424685	T T	TATCCACC others(663): Show TATCCACCCATCCACCCACCCATCCATTCACCATCCACTCATCCATCCAC CCATCCATTCGCCCACCCATTTATCAACCCATCCATTCACCCACCGTTCC ACCACCCACCCACCCACCCATCCATATACCCACCCACCCATCAATTCACC CGTCCACTCATCCATCCACCCACCCATTCATCCATTCACCCACCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATCCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATCCACCCATCCATTCATCCATTCACCCACCCATTCATCCATCCACC CATCCATTCATCCATTCACCCACCCATTCATCCATCCACCCATCCATTCA TCCATTCACCCATCCATTCATCCATCCACCCATCCATTCATCCATTCACC CACCCACTCATCCATCCACCCATCCATTCGCCCACCCATTTACCTACCCA TTAATTCACCCACCCTTCCACCACCCACCCACCCATCCATATACCCACCC ACCCATTCACCCATCCATTCATCCATCCACCCACCCACCCATTCACCCAC CCACCCAGCCATCTCACCCATTCACCCATCCACTCATCCATTCACCTATC CACCCACCCATCCACTCATCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0222 a0001c0001t0056g0222	1	7	0.1429	670	c.775 others(685): Show c.775-337_775-336insGGATGAGTGGATGGGTGGGTGGATAGGTGA ATGGATGAGTGGATGGGTGAATGGGTGAGATGGCTGGGTGGGTGGGTGAA TGGGTGGGTGGGTGGATGGATGAATGGATGGGTGAATGGGTGGGTGGGTA TATGGATGGGTGGGTGGGTGGTGGAAGGGTGGGTGAATTAATGGGTAGGT AAATGGGTGGGCGAATGGATGGGTGGATGGATGAGTGGGTGGGTGAATGG ATGAATGGATGGGTGGATGGATGAATGGATGGGTGAATGGATGAATGGAT GGGTGGATGGATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGG ATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGAT GGGTGGATGGATGAATGGGTGGGTGGATGGATGAATGGATGGGTGGATGG ATGAATGGGTGGGTGAATGGATGAATGGATGGGTGGATGGATGAATGGGT GGGTGAATGGATGAATGGGTGGGTGGATGGATGAGTGGACGGGTGAATTG ATGGGTGGGTGGGTATATGGATGGGTGGGTGGGTGGGTGGTGGAACGGTG GGTGAATGGATGGGTTGATAAATGGGTGGGCGAATGGATGGGTGGATGGA TGAGTGGATGGTGAATGGATGGGTGGGTGGATGGGTGGAT	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	5/7			chr13	TogoVar
AFF2_chrX_148495617_149005663	148581417	C C	CACGTATA others(663): Show CACGTATATACGTATACGTGTACACACATATATACACGTATATACGTATA CGTGTACACACACATATATACACGTATATACGTATACGTGTACACACACA TATATACACGTATATACGTATACGTGTACACACACACGTATATACGTATA CGTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATA CGTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACG TATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACA CACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTG TACACACACACGTATATACGTATACGTGTACACACATACACGTATATACC TATACGTGTACACACATATACACGTATACGTGTACACACATATACACGTA TACGTGTACACACATATACACGTATACGTGTACACACATATACACGTATA CGTGTACACACATATACACGTATACGTGTACACACATATACACGTATACG TGTACACACATATACACGTATACGTGTACACACATATACACGTATATACG TATACGTGTACACACATATACGTATACGTGTACACACATATATACGTATA CGTGTACACACATATACACGT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0100 a0001c0002t0018g0100	1	153	0.0065	670	c.48- others(687): Show c.48-70582_48-70581insACGTATATACGTATACGTGTACACACAT ATATACACGTATATACGTATACGTGTACACACACATATATACACGTATAT ACGTATACGTGTACACACACATATATACACGTATATACGTATACGTGTAC ACACACACGTATATACGTATACGTGTACACACACACGTATATACGTATAC GTGTACACACACACGTATATACGTATACGTGTACACACACACGTATATAC GTATACGTGTACACACACACGTATATACGTATACGTGTACACACACACGT ATATACGTATACGTGTACACACACACGTATATACGTATACGTGTACACAC ACACGTATATACGTATACGTGTACACACACACGTATATACGTATACGTGT ACACACATACACGTATATACCTATACGTGTACACACATATACACGTATAC GTGTACACACATATACACGTATACGTGTACACACATATACACGTATACGT GTACACACATATACACGTATACGTGTACACACATATACACGTATACGTGT ACACACATATACACGTATACGTGTACACACATATACACGTATACGTGTAC ACACATATACACGTATATACGTATACGTGTACACACATATACGTATACGT GTACACACATATATACGTATACGTGTACACACATATACACGT	AFF2	ENSG00000155966.14	transcript	ENST00000370460.7	protein_coding	1/20			chrX	TogoVar
ARHGAP39_chr8_144524179_144690846	144687156	C C	CCCCCGTG others(663): Show CCCCCGTGACCACGCACTGGCGGCGAGCACTTCCCACCCCGTGACCACGC ACTGGCGGCGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCAC TTCTCACCCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCCGTGA CCACACACTGGCGGTGAGCACTTCCCACCCCCGTGACCACGCACTGGCGG CGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACC CCGTGACCACACACTGGCGGTGAGCACTTCTCACCCCCGTGACCACACAC TGGCGGCGAGCACTTCCCACCCCCGTGACCACACACTGGCGGCGAGCACT TCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACC ACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGA GCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCG TGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCACACACTAG CGGTGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCC ACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	226	0.0044	670	c.-15 others(681): Show c.-1553_-1552insTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGC TGTAAATGAGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTC ACGGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGT GCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGT GTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGG GAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCC AGTGTGTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACG GGGGTGAGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCT CACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTG GTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGA AGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGAGAAGTGCTCGCTGTAA ATGAGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGG GTGGGAAGTGCTCGCCGCCAGTGCGTGGTCACGGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1311		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687228	C C	CCCCGTGA others(663): Show CCCCGTGACCACTCATTTACAGCGAGCACTTCTCACCCCCGTGACCACAC ACTGGCGGTGAGCACTTCCCACCCCCGTGACCACGCACTGGCGGCGAGCA CTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGA CCACACACTGGCGGTGAGCACTTCTCACCCCCGTGACCACACACTGGCGG CGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACC CCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACACACT AGCGGTGAGCACTTCCCACCCCGTGACCACACACTAGCGGTGAGCACTTC CCACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCCGTGACCA CACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACATTTACAGTGA GCACTTCCCACCCCTGTGACCACACACTGGCGGTGAGCACTTCCCACCCC GTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGG CGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCC ACCCCGTGACCACACACTAGCGGTGAGCACTTCCCACCCCGTGACCACAC ACTAGCGGTGAGCACTTCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0243 a0001c0001t0001g0243	1	209	0.0048	670	c.-16 others(681): Show c.-1625_-1624insTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGG GTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCAC CGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTC ACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTG CTCACCGCCAGTGTGTGGTCACAGGGGTGGGAAGTGCTCACTGTAAATGT GTGGTCACGGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGT GGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCG CTAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCAC GGGGTGGGAAGTGCTCACCGCTAGTGTGTGGTCACGGGGTGGGAAGTGCT CACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTG GTCACGGGGGTGAGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGA AGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAG TGCGTGGTCACGGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGG GGTGAGAAGTGCTCGCTGTAAATGAGTGGTCACGGG	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1383		chr8	TogoVar
ARHGAP39_chr8_144524179_144690846	144687639	T T	TGAGCACT others(663): Show TGAGCACTTCCCACCCCGTGACCACTCATTTACAGCGAGCACTTCCCACC CCCGTGACCACACACCAGCAGTGAGCACTTCCCACCCCCGTGACCACACA CTAGCAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACT TCCCACCCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGAC CACACACTAGCAGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGCG AGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTCCCACCCC CGTGACCACACACTGGCGGCGAGCACTTCCCACCCCCGTGACCACACACT GGCGGCGAGCACTTCCCACCCCGTGACCACACACTGGCGGCGAGCACTTC CCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCAC ACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGC ACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACCCCGTG ACCACACACTGGCGGTGAGCACTTCCCACCCCGTGACCACACACTGGCGG TGAGCACTTCCCACCCCGTGACCACACACTGGCGGTGAGCACTTCCCACC CCGTGACCACTCATTTACAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	225	0.0044	670	c.-20 others(681): Show c.-2036_-2035insGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCT CACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTG GTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAA GTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGT GTGTGGTCACGGGGTGGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGT GGGAAGTGCTCACCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCG CCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCAC GGGGGTGGGAAGTGCTCGCCGCCAGTGTGTGGTCACGGGGGTGGGAAGTG CTCGCCGCCAGTGTGTGGTCACGGGGTGGGAAGTGCTCGCCGCCAGTGTG TGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGGGGTGGG AAGTGCTCACCGCCAGTGTGTGGTCACGGGGGTGGGAAGTGCTCACCGCC AGTGTGTGGTCACGGGGTGGGAAGTGCTCACTGCTAGTGTGTGGTCACGG GGGTGGGAAGTGCTCACTGCTGGTGTGTGGTCACGGGGGTGGGAAGTGCT CGCTGTAAATGAGTGGTCACGGGGTGGGAAGTGCTC	ARHGAP39	ENSG00000147799.12	transcript	ENST00000377307.7	protein_coding		1794		chr8	TogoVar
ATP13A3_chr3_194397677_194492002	194421114	G G	GTGTGTAT others(663): Show GTGTGTATATATATATAGTTTATATATATATATATATATATAGTTTATAT ATATATAGTTTATATATATATACTATATATATAGTTTATATATACTATAT ATATAGTTTATATATATATACTATATATAGTTTATATATATATACTATAT ATAGTATATATATACTATATATATACTATATATAGTATATATATACTATA TATATACTATATATATAGTTTATATATATACTATATATATAGTTTATATA TATACTATATATATAGTTTATATATATATACTATATATATAGTTTATATA TATATACTATATATATAGTATATATATATATAAACTATATATATATAAAC TATATATATAGTTTATATATATATATACTATATATATAGTTTATATATAT ATATACTATATATATAGTATATATATATATAAACTATATATATAGTATAT ATATATATAAACTATATATATAGTTTATATATATATAAACTATATATATA GTTTATATATATATATACTATATATATAGTTTATATATATATATACTATA TATATAGTTTATATATATATATACTATATATATAGTTTATATATATATAT ACTATATATATAGTTTATATATATATACTATATATATAGTTTATATATAT ATATACTATATATATAGTTTA	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0286 a0001c0001t0009g0286	1	264	0.0038	670	c.331 others(689): Show c.3314-1148_3314-1147insTAAACTATATATATAGTATATATATA TATAAACTATATATATAGTATATATATATAAACTATATATATAGTATATA TATATATAAACTATATATATAGTATATATATATATAAACTATATATATAG TATATATATATATAAACTATATATATAGTATATATATATATAAACTATAT ATATAGTTTATATATATATAAACTATATATATAGTTTATATATATATATA CTATATATATAGTTTATATATATATATACTATATATATAGTATATATATA TATAAACTATATATATAGTATATATATATATAAACTATATATATAGTTTA TATATATATAGTTTATATATATATATACTATATATATAGTATATATATAT AAACTATATATATAGTATATATATATAAACTATATATATAGTATATATAT AAACTATATATATAGTATATATATAAACTATATATATAGTATATATATAG TATATATATACTATATATAGTATATATATAGTATATATATACTATATATA GTATATATATATAAACTATATATAGTATATATATATAAACTATATATATA GTATATATAAACTATATATATAGTATATATATATAAACTATATATATATA AACTATATATATATATATATATATAAACTATATATATATACACA	ATP13A3	ENSG00000133657.17	transcript	ENST00000645319.2	protein_coding	30/33			chr3	TogoVar
ATP9B_chr18_79064394_79383283	79358066	C C	CCTGTGTG others(663): Show CCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCC TGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGG TCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTG AGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGG GTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGC TCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTC CGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTG TGAGGGACCCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCTGTGTGAG GGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGT GTCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCTC TGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCCG TGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTG AGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGG ATGCTCTGGGTCTGGAGGTGT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	296	0.0034	670	c.290 others(689): Show c.2904-1223_2904-1222insTGTGTGAGGGACCCTGTGTGAGGGGT GCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTG TCCGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTG TGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTG AGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTG GAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGG TGTCTGTGTGAGGGACCCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTC TGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTG TGAGGGGTGTCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAG GGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGA GGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTG TCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTG TGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGG TCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79358312	G G	GTGCTCTG others(663): Show GTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGG TGTCCGTGTGAGGGACCCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTC TGTGTGAGGGACCCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCTGTG TGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAG GGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGT GCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTG TCCGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTG TGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTG AGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTG GAGGTGTCTGTGTGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGG ACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGT CCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGATGCTCTG GGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTG TGAGGGACGCTGTGTGAGGGA	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	143	0.0070	670	c.290 others(689): Show c.2904-1039_2904-1038insTCTGGGTCTGGAGGTGTCTGTGTGAG GGGTGCCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGT GCCCTGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGTCC TGGGTCTGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGG TCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTG AGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGAGGTGTCTGTGTGAGGG GTGCCCTGGGTCTGGAGGTGTCCGTGTGAGGGACCCTGTGTGAGGGGTGC TCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTC CGTGTGAGGGACCCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTG TGAGGGGTGCCCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGCCCTGGGTC TGGAGGTGTCTGTGTGAGGGACCCTGTGTGAGGGGTGCTCTGGGTCTGGA GGTGTCTGTGTGAGGGGTGTCCTGGGTCTGGAGGTGTCCGTGTGAGGGAC CCTGTGTGAGGGATGCTCTGGGTCTGGAGGTGTCTGTGTGAGGGGTGTCC TGGGTCTGGAGGTGTCCGTGTGAGGGACGCTGTGTGAGGGATGC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	25/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
C17orf67_chr17_56786913_56838920	56792730	A A	ATGATGGT others(663): Show ATGATGGTGATGATGGGGGTGATGGTGATGGTGGTGAGAGTGGTGGTGGG GGTGGTAGTGGTGGAGATGGAGGTAGTGGTGATGGTGACGATGGTAGTGA TGGTGGTGGTGGTGGTGGTGGTGGTGACAGTGATGATGATGGTGAGAGTG GTGGTGGTGGTGGTCATGGTGGTGGTGGTGGTGGTGGTGATGGTAATGAT GGGGGTGACGGTGGTGGTGATGATGGTGGTGATGGTGATGGTGGTGATGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGATGGTGGTGATGGTGGTG ATAGTGATGATGGTGGTGATGGTGGTGGTGATGGTGGTGGTGATGGTGAT GATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGACGGTGATGGTGGTGA TGGTGGTGGTGATGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGATG ATGGTGGTGATGGTGGTGGTGATGGTGATGGTGGTGGTGATGGTGATGAT GGTGGTGATGGTGGTGATGGTGATGGTGATGGTGGCAGTGATGGTGGTGA TGGTGGTGGTGGTGATGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTG ATGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGAT GGTGATGGTGGTGGTGGTGAT	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	86	0.0116	670	c.21 others(685): Show c.21-379_*21-378insATCACCACCACCACCATCACCATCACCACC ATCACCACCACCACCACCATCACCACCACCACCATCACCATCACCACCAC CATCACCACCATCACCACCATCACCATCACCACCACCACCATCACCACCA TCACTGCCACCATCACCATCACCATCACCACCATCACCACCATCATCACC ATCACCACCACCATCACCATCACCACCACCATCACCACCATCATCACCAT CACCACCACCACCACCACCACCATCACCATCACCACCACCATCACCACCA TCACCGTCACCACCATCACCACCACCACCATCACCACCATCATCACCATC ACCACCACCATCACCACCACCATCACCACCATCATCACTATCACCACCAT CACCACCATCATCACCACCACCACCACCACCATCACCACCACCATCACCA CCATCACCATCACCACCATCATCACCACCACCGTCACCCCCATCATTACC ATCACCACCACCACCACCACCACCATGACCACCACCACCACCACTCTCAC CATCATCATCACTGTCACCACCACCACCACCACCACCACCATCACTACCA TCGTCACCATCACCACTACCTCCATCTCCACCACTACCACCCCCACCACC ACTCTCACCACCATCACCATCACCCCCATCATCACCATCA	C17orf67	ENSG00000214226.9	transcript	ENST00000397861.7	protein_coding	7/7			chr17	TogoVar
CCDC127_chr5_191868_223153	209082	C C	CAGGACTC others(663): Show CAGGACTCCCCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCACACA CATCATTCCACAACACATAGGACTCCCCCACAAACACAGAAACAACCCTT CGCAGCCTGGCCACACACATCATTCCACAACACATAGGACTCCCCCACAA ACACAGAAACAACCCTTCGCAGCCTGGCCACACACATCATTCCACAACAC ATAGGACTCCCCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCACAC ACATCATTCCACAACACATAGGACTCCCCCACAAACACAGAAACAACCCT TCGCAGCCTGGCCACACACATCATTCCACAACACATAGGACTCCCCCACA AACACAGAAACAACCCTTCGCAGCCTGGCCACACACATCATTCCACAACA CATAGGACTCCCCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCACA CACATCATTCCACAACACATAGGACTCCCCCACAAACACAGAAACAACCC TTCGCAGCCTGGCCACACACATCATTCCACAACACATAGGACTCCCCCAC AAACACAGAAACAACCCTTCGCAGCCTGGCCACACACATCATTCCACAAC ACATAGGACTCCCCCACAAACACAGAAACAACCCTTCGCAGCCTGGCCAC ACACATCATTCCACAACACAT	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0119 a0001c0001t0111g0119	1	88	0.0114	670	c.122 others(687): Show c.122-3125_122-3124insATGTGTTGTGGAATGATGTGTGTGGCCA GGCTGCGAAGGGTTGTTTCTGTGTTTGTGGGGGAGTCCTATGTGTTGTGG AATGATGTGTGTGGCCAGGCTGCGAAGGGTTGTTTCTGTGTTTGTGGGGG AGTCCTATGTGTTGTGGAATGATGTGTGTGGCCAGGCTGCGAAGGGTTGT TTCTGTGTTTGTGGGGGAGTCCTATGTGTTGTGGAATGATGTGTGTGGCC AGGCTGCGAAGGGTTGTTTCTGTGTTTGTGGGGGAGTCCTATGTGTTGTG GAATGATGTGTGTGGCCAGGCTGCGAAGGGTTGTTTCTGTGTTTGTGGGG GAGTCCTATGTGTTGTGGAATGATGTGTGTGGCCAGGCTGCGAAGGGTTG TTTCTGTGTTTGTGGGGGAGTCCTATGTGTTGTGGAATGATGTGTGTGGC CAGGCTGCGAAGGGTTGTTTCTGTGTTTGTGGGGGAGTCCTATGTGTTGT GGAATGATGTGTGTGGCCAGGCTGCGAAGGGTTGTTTCTGTGTTTGTGGG GGAGTCCTATGTGTTGTGGAATGATGTGTGTGGCCAGGCTGCGAAGGGTT GTTTCTGTGTTTGTGGGGGAGTCCTATGTGTTGTGGAATGATGTGTGTGG CCAGGCTGCGAAGGGTTGTTTCTGTGTTTGTGGGGGAGTCCT	CCDC127	ENSG00000164366.4	transcript	ENST00000296824.4	protein_coding	2/2			chr5	TogoVar
CELF4_chr18_37238040_37570798	37283949	T T	TATAGCCC others(663): Show TATAGCCCAACACACACATACGCATACACACACCAATACATGCACCATGC ATATACCCCAACATACACACACACACACACACACACACTGCAATACACAC ACCACACATACACCCCAACACACACACACACACATACAGACACCAATACA TACACCATGCATATACCCCAACACACACACACCCCCAATACACTCACAAC ACATACACCCCAACACACACACACCCCCAATACACACACCACACATATAC CCCAACACACACACACACACACCCAATACACCACACATATACCCCAACAC ACACACACCAATACATGCACCAACACATATACCCCAACATACACACACAC CCCCAACACACACCAAAGCATATACGCCAACACACACACACATACACAGC AATGCATTACCCCAACATACACACACAGACACACACACAATACACACACC AATACACACCAATGCATATACCCCAACATACACACATATAGCAACATACA CCCTAACACACATACATACACATACACACACCAAATAGACACACACCCCA ACACACACAACCAACACCCCCACACACCCAACACACACACATACACGTAC ACACACATCAACACATAACTATGCACCCCAACACACACACACACACACAA CATACACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp1 HG00423.hp2 others(29): Show HG00099.hp1 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00738.hp1 HG00741.hp2 HG01261.hp1 HG01496.hp1 HG01934.hp2 HG01978.hp2 HG02071.hp1 HG02071.hp2 HG02132.hp1 HG02155.hp2 HG02523.hp2 HG02683.hp2 HG03490.hp2 HG03704.hp2 HG04184.hp1 HG04199.hp2 NA18961.hp1 NA18971.hp2 NA18982.hp2 NA19011.hp1 NA19062.hp2 NA19066.hp2 NA19068.hp1 NA20129.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0033 a0001c0002t0001 a0001c0002t0004 a0001c0002t0005 a0001c0002t0010	a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0081 others(29): Show a0001c0001t0001g0069 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0115 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0002g0079 a0001c0001t0002g0085 a0001c0001t0002g0109 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0171 a0001c0001t0003g0051 a0001c0001t0003g0053 a0001c0001t0003g0183 a0001c0001t0004g0012 a0001c0001t0005g0110 a0001c0001t0010g0116 a0001c0001t0016g0070 a0001c0001t0016g0167 a0001c0001t0017g0021 a0001c0001t0021g0078 a0001c0001t0033g0164 a0001c0002t0001g0072 a0001c0002t0004g0020 a0001c0002t0005g0099 a0001c0002t0010g0055	32	70	0.4571	670	c.449 others(687): Show c.449-8707_449-8706insGTATGTGTATATGTGTGTATGTTGTGTG TGTGTGTGTGTGTTGGGGTGCATAGTTATGTGTTGATGTGTGTGTACGTG TATGTGTGTGTGTTGGGTGTGTGGGGGTGTTGGTTGTGTGTGTTGGGGTG TGTGTCTATTTGGTGTGTGTATGTGTATGTATGTGTGTTAGGGTGTATGT TGCTATATGTGTGTATGTTGGGGTATATGCATTGGTGTGTATTGGTGTGT GTATTGTGTGTGTGTCTGTGTGTGTATGTTGGGGTAATGCATTGCTGTGT ATGTGTGTGTGTGTTGGCGTATATGCTTTGGTGTGTGTTGGGGGTGTGTG TGTATGTTGGGGTATATGTGTTGGTGCATGTATTGGTGTGTGTGTGTTGG GGTATATGTGTGGTGTATTGGGTGTGTGTGTGTGTGTGTTGGGGTATATG TGTGGTGTGTGTATTGGGGGTGTGTGTGTGTTGGGGTGTATGTGTTGTGA GTGTATTGGGGGTGTGTGTGTGTTGGGGTATATGCATGGTGTATGTATTG GTGTCTGTATGTGTGTGTGTGTGTGTTGGGGTGTATGTGTGGTGTGTGTA TTGCAGTGTGTGTGTGTGTGTGTGTGTGTATGTTGGGGTATATGCATGGT GCATGTATTGGTGTGTGTATGCGTATGTGTGTGTTGGGCTAT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	3/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37283949	T T	TATAGCCC others(663): Show TATAGCCCAACACACACATACGCATACACACACCAATACATGCACCATGC ATATACCCCAACATACACACACACACACACACACACTGCAATACACACAC CACACATACACCCCAACACACACACACACACATACAGACACCAATACATA CACCATGCATATACCCCAACACACACACACCCCCAATACACTCACAACAC ATACACCCCAACACACACACACCCCCAATACACACACCACACATATACCC CAACACACACACACACACACCCAATACACACACCACACATATACCCCAAC ACACACACACCAATACATGCACCAACACATATACCCCAACATACACACAC ACCCCCAACACACACCAAAGCATATACGCCAACACACACACACATACACA GCAATGCATTACCCCAACATACACACACAGACACACACACAATACACACA CCAATACACACCAATGCATATACCCCAACATACACACATATAGCAACATA CACCCTAACACACATACATACACATACACACACCAAATAGACACACACCC CAACACACACAACCAACACCCCCACACACCCAACACACACACATACACGT ACACACACATCAACACATAACTATGCACCCCAACACACACACACACACAA CATACACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0015 a0001c0002t0015	a0001c0002t0015g0006 a0001c0002t0015g0006	1	39	0.0256	670	c.449 others(687): Show c.449-8707_449-8706insGTATGTGTATATGTGTGTATGTTGTGTG TGTGTGTGTGTTGGGGTGCATAGTTATGTGTTGATGTGTGTGTACGTGTA TGTGTGTGTGTTGGGTGTGTGGGGGTGTTGGTTGTGTGTGTTGGGGTGTG TGTCTATTTGGTGTGTGTATGTGTATGTATGTGTGTTAGGGTGTATGTTG CTATATGTGTGTATGTTGGGGTATATGCATTGGTGTGTATTGGTGTGTGT ATTGTGTGTGTGTCTGTGTGTGTATGTTGGGGTAATGCATTGCTGTGTAT GTGTGTGTGTGTTGGCGTATATGCTTTGGTGTGTGTTGGGGGTGTGTGTG TATGTTGGGGTATATGTGTTGGTGCATGTATTGGTGTGTGTGTGTTGGGG TATATGTGTGGTGTGTGTATTGGGTGTGTGTGTGTGTGTGTTGGGGTATA TGTGTGGTGTGTGTATTGGGGGTGTGTGTGTGTTGGGGTGTATGTGTTGT GAGTGTATTGGGGGTGTGTGTGTGTTGGGGTATATGCATGGTGTATGTAT TGGTGTCTGTATGTGTGTGTGTGTGTGTTGGGGTGTATGTGTGGTGTGTG TATTGCAGTGTGTGTGTGTGTGTGTGTGTATGTTGGGGTATATGCATGGT GCATGTATTGGTGTGTGTATGCGTATGTGTGTGTTGGGCTAT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	3/12			chr18	TogoVar
CELF4_chr18_37238040_37570798	37283949	T T	TATAGCCC others(663): Show TATAGCCCAACACACACATACGCATACACACACCAATACATGCACCATGC ATATACCCCAACATACACACACACACACACACACTGCAATACACACACCA CACATACACCCCAACACACACACACACACATACAGACACCAATACATACA CCATGCATATACCCCAACACACACACACCCCCAATACACTCACAACACAT ACACCCCAACACACACACACCCCCAATACACACACCACACATATACCCCA ACACACACACACACACACCCAATACACACACCACACATATACCCCAACAC ACACACACCAATACATGCACCAACACATATACCCCAACATACACACACAC CCCCAACACACACCAAAGCATATACGCCAACACACACACACATACACAGC AATGCATTACCCCAACATACACACACAGACACACACACAATACACACACC AATACACACCAATGCATATACCCCAACATACACACATATAGCAACATACA CCCTAACACACATACATACACATACACACACCAAATAGACACACACCCCA ACACACACAACCAACACCCCCACACACCCAACACACACACATACACGTAC ACACACATCAACACATAACTATGCACCCCAACACACACACACACACACAA CATACACACATATACACATAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG03654.hp1 NA18964.hp1 others(2): Show HG00423.hp1 HG03654.hp1 NA18964.hp1 NA18983.hp1 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0010 others(2): Show a0001c0002t0001 a0001c0002t0005 a0001c0002t0010 a0001c0002t0013 a0001c0002t0037	a0001c0002t0001g0114 a0001c0002t0005g0067 a0001c0002t0010g0094 others(2): Show a0001c0002t0001g0114 a0001c0002t0005g0067 a0001c0002t0010g0094 a0001c0002t0013g0013 a0001c0002t0037g0056	5	43	0.1163	670	c.449 others(687): Show c.449-8707_449-8706insGTATGTGTATATGTGTGTATGTTGTGTG TGTGTGTGTGTGTTGGGGTGCATAGTTATGTGTTGATGTGTGTGTACGTG TATGTGTGTGTGTTGGGTGTGTGGGGGTGTTGGTTGTGTGTGTTGGGGTG TGTGTCTATTTGGTGTGTGTATGTGTATGTATGTGTGTTAGGGTGTATGT TGCTATATGTGTGTATGTTGGGGTATATGCATTGGTGTGTATTGGTGTGT GTATTGTGTGTGTGTCTGTGTGTGTATGTTGGGGTAATGCATTGCTGTGT ATGTGTGTGTGTGTTGGCGTATATGCTTTGGTGTGTGTTGGGGGTGTGTG TGTATGTTGGGGTATATGTGTTGGTGCATGTATTGGTGTGTGTGTGTTGG GGTATATGTGTGGTGTGTGTATTGGGTGTGTGTGTGTGTGTGTTGGGGTA TATGTGTGGTGTGTGTATTGGGGGTGTGTGTGTGTTGGGGTGTATGTGTT GTGAGTGTATTGGGGGTGTGTGTGTGTTGGGGTATATGCATGGTGTATGT ATTGGTGTCTGTATGTGTGTGTGTGTGTGTTGGGGTGTATGTGTGGTGTG TGTATTGCAGTGTGTGTGTGTGTGTGTGTATGTTGGGGTATATGCATGGT GCATGTATTGGTGTGTGTATGCGTATGTGTGTGTTGGGCTAT	CELF4	ENSG00000101489.20	transcript	ENST00000420428.7	protein_coding	3/12			chr18	TogoVar
CHRNA4_chr20_63338223_63366349	63361431	G G	GGGAGGGG others(663): Show GGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCTGGG GAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGA GGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGG GGGGAGGAGGGGGAGCTGGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAG GAGGGGGAGCAGGGGAGGGGGGAGGAGGGGAGCTGGGGAGGGGGGAGGAG GGGGAGCTGGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGG GGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGGGAGGGGGGAGGAGGGGAG CAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCT GGGGAGGGGAGGAGGGGGAGCTGGGGAGGGGAGGAGGGGGAGGAGGGGGA GCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGAGAGCA GGGGAGGGGGGAGGAGGGGGAGCTGGGGAGGGGGAGGAGGGGGAGCTGGG GAGGGGGAGGAGGGGGAGCAGGGGAGGGGGGAGGAGGGGGAGCAGGGGAG GGGGGAGGAGGGGGAGCAGGGGAGGGGGAGGAGGGGGAGCAGTGGAGGGG GGAGAAGAGGAGGGGGGAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG03834.hp2 NA20752.hp1 HG00323.hp1 HG03834.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0096 a0001c0002t0001g0105 a0001c0002t0001g0113 a0001c0002t0001g0096 a0001c0002t0001g0105 a0001c0002t0001g0113	3	13	0.2308	670	c.-26 others(679): Show c.-267_-266insTCCTCCCCCCTCCTCTTCTCCCCCCTCCACTGCTCC CCCTCCTCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCC TCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCC TCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCTCCCTCCTCC CCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCC TCCTCCCCTCCCCAGCTCCCCCTCCTCCCCTCCCCAGCTCCCCCTCCTCC CCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCCTCCTCCCCC CTCCCCAGCTCCCCCTCCTCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTC CCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCC CAGCTCCCCTCCTCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCCCCTG CTCCCCCTCCTCCCCCCCAGCTCCCCCTCCTCCCCCCTCCCCTGCTCCCC CTCCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCT CCTCCCCCCTCCCCAGCTCCCCCTCCTCCCCCCTCCCCAGCTCCCCCTCC TCCCCCCTCCCCTGCTCCCCCTCCTCCCCCCTCC	CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding		83		chr20	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(663): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(22): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG01243.hp2 HG01255.hp2 HG01516.hp1 HG02040.hp1 HG02040.hp2 HG02300.hp1 HG02559.hp1 HG02630.hp1 HG03017.hp2 HG03453.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp2 NA18951.hp1 NA18960.hp2 NA18986.hp1 NA18993.hp1 NA19004.hp1 NA19063.hp2 NA19065.hp1 NA19080.hp2	a0001 a0003 a0027 others(2): Show a0001 a0003 a0027 a0047 a0048	a0001c0001 a0001c0009 a0003c0003 others(5): Show a0001c0001 a0001c0009 a0003c0003 a0003c0007 a0003c0028 a0027c0033 a0047c0056 a0048c0063	a0001c0001t0001 a0001c0009t0001 a0003c0003t0001 others(6): Show a0001c0001t0001 a0001c0009t0001 a0003c0003t0001 a0003c0007t0001 a0003c0007t0006 a0003c0028t0001 a0027c0033t0001 a0047c0056t0001 a0048c0063t0001	a0001c0001t0001g0004 a0001c0001t0001g0101 a0001c0001t0001g0125 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0101 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0009t0001g0004 a0001c0009t0001g0127 a0003c0003t0001g0013 a0003c0007t0001g0029 a0003c0007t0006g0029 a0003c0028t0001g0013 a0027c0033t0001g0099 a0047c0056t0001g0194 a0048c0063t0001g0004	25	32	0.7813	670	c.217 others(685): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(663): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCGGCCCCGTGCCCCCCCCA ACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCC CCTCCCCTCCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0067 a0003c0003t0001g0067	1	8	0.1250	670	c.217 others(685): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCGGCCCCGTGCCCCCCCCA ACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGCC CCTCCCCTCCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(663): Show TGCTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCTTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18978.hp1 NA19003.hp2 others(2): Show NA18954.hp2 NA18978.hp1 NA19003.hp2 NA19009.hp2 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	5	12	0.4167	670	c.217 others(685): Show c.2176-73_2176-72insCCGGCCCCGTGCCCCTCCCCCCCAAACACA CTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTG CCCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCC CGTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGT GTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTG GCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGC TGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGC CCCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCCGTGTGGCTGCCCCCGGC CCCTTGCCCCTCCCCCCCAAACACACTGCCCGTGTGGCTGCCCCCGGCCC CGTGCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTG CCCTTCTCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHTF18_chr16_783620_803074	795593	T T	TGCTGCCC others(663): Show TGCTGCCCGTGTGGCTGCCCCCGGGCCCCGTGCCCCTCCCCCCCAAACAC ACTGCCCGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCGTGTGGCTGCCCCCGGCCC CGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGCTGCCCCCGGCCCCGT GCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCCGTGC CCTTCTCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCGC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0003 a0003	a0003c0072 a0003c0072	a0003c0072t0001 a0003c0072t0001	a0003c0072t0001g0075 a0003c0072t0001g0075	1	8	0.1250	670	c.217 others(685): Show c.2176-73_2176-72insCCGGGCCCCGTGCCCCTCCCCCCCAAACAC ACTGCCCGTGGCTGCCCCCGGCCCCGTGCCCCCCCCCCCAACCACACTGC CCGTGTGGCTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCC GTGTGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTG TGGCTGCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGG CTGCCCCCGGCCCCGTGCCCTTCTCCCCCAACCACACTGCCCGTGTGGCT GCCCCCGGCCCCGTGCCCGCCCCCCCAAACACACTGCCCGTGTGGCTGCC CCCGGCCCCGTGCCCGCCCCCCTGTGCTGCCGTGTGGCTGCCCCCGGCCC CGTGCCCCTCCCCCCCAAACACACTGCCCGTGTGCTGCCCCCGGCCCCGT GCCCCCCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCCGTGC CCTTCTCCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCC CCCCCCAACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCCCCCCC AACCACACTGCCCGTGTGGCTGCCCCCGGCCCCGTGCCGCCCCGCCCCGC CCCTCCCCTCCCCCCCCCCGCGCTGCCCGTGTGGCTGCCC	CHTF18	ENSG00000127586.17	transcript	ENST00000262315.14	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
CLPTM1L_chr5_1312752_1350099	1329481	C C	CTCTGCTT others(663): Show CTCTGCTTGGTGGACAGAGCCTCAGGACTCTCTGCCTGGTGGACAGGGCC TCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGG ACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTG CCTGGTGGACAGGGCCTCAGGACTATCTGCCTGGTGGACAGGGCCTCAGG ACTATCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGACAGG GCCTCAGGACTCTCTGCCTGGTGGACAGGGCCTCAGGACTCTCTGCTTGG TGGACAGAGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCT CTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTC AGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCCTGGTGGAC AGGGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCTCTGCT TGGTGGACAGGGCCTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGAC TCTCTGCTTGGTGGACAGAGCCTCAGGACTCTCTGCTTGGTGGACAGGGC CTCAGGACTCTCTGCTTGGTGGACAGGGCCTCAGGACTCACCACTGCTTG GTGGACAGAGCCTCAGGACTA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0292 a0001c0001t0003g0292	1	368	0.0027	670	c.108 others(687): Show c.1080+798_1080+799insTAGTCCTGAGGCTCTGTCCACCAAGCAG TGGTGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGCCCTGT CCACCAAGCAGAGAGTCCTGAGGCTCTGTCCACCAAGCAGAGAGTCCTGA GGCCCTGTCCACCAAGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAG AGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGCCCTGTCCACC AGGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGCCC TGTCCACCAAGCAGAGAGTCCTGAGGCCCTGTCCACCAAGCAGAGAGTCC TGAGGCCCTGTCCACCAAGCAGAGAGTCCTGAGGCTCTGTCCACCAAGCA GAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCC ACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGATAGTCCTGAGG CCCTGTCCACCAGGCAGATAGTCCTGAGGCCCTGTCCACCAGGCAGAGAG TCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTGTCCACCAG GCAGAGAGTCCTGAGGCCCTGTCCACCAGGCAGAGAGTCCTGAGGCCCTG TCCACCAGGCAGAGAGTCCTGAGGCTCTGTCCACCAAGCAGA	CLPTM1L	ENSG00000049656.14	transcript	ENST00000320895.10	protein_coding	9/16			chr5	TogoVar
COL4A1_chr13_110143963_110312157	110255786	A A	AGGGGAAA others(663): Show AGGGGAAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGC AGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGG GGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGG AAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGA AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGG GGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGA AGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAA GGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGA GGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAG GAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGG AAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAG GGAGGGGGAAGGCAGGAAGGG	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18982.hp1 NA18941.hp2 NA18982.hp1	a0003 a0004 a0003 a0004	a0003c0049 a0004c0077 a0003c0049 a0004c0077	a0003c0049t0001 a0004c0077t0001 a0003c0049t0001 a0004c0077t0001	a0003c0049t0001g0241 a0004c0077t0001g0017 a0003c0049t0001g0241 a0004c0077t0001g0017	2	316	0.0063	670	c.85- others(687): Show c.85-13053_85-13052insCCCTTCCTGCCTTCCCCCTCCCTTCCTG CCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTT CCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTC CTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCC TCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCC TTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCT TCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCC CCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTG CCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTC CCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTTTCCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar

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