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
ATP9B_chr18_79064394_79383283	79326255	C C	CCCTCCCC others(198): Show CCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCT CACATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCCTCACATGGTG TTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGTGTTAGGGTGT CATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGT ACCCTT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0136 a0001c0003t0001g0136	1	296	0.0034	205	c.177 others(224): Show c.1774-2846_1774-2845insTCCTCCCCTCACATGGTGTTAGTGTG TCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTA TACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCC TCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCAC ATGGTGTTAGGGTGTCATCTCTGTACCCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326334	C C	CCTCCCTC others(198): Show CCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCC CCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATG GTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGG TGTCATCTCTGTACCCTTCCTCCCCTCACATGGTGTTAGTGTGTCATCTC TGCACA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0130 a0001c0003t0003g0130	1	265	0.0038	205	c.177 others(224): Show c.1774-2805_1774-2804insCCCTCCCCTCACATGGTGTTAGGGTG TCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTG TACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCC TCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCAC ATGGTGTTAGTGTGTCATCTCTGCACACT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326337	T T	TCCTCCCC others(198): Show TCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCCT CACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGTG TTAGGGTGTCATCCCTGCACACTCCTTCCCCTCACATGGTGTTAGGGTGT CATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCCCTGC ACACTC	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0223 a0002c0002t0002g0223	1	21	0.0476	205	c.177 others(224): Show c.1774-2783_1774-2782insTGTGTCATCTCTGCACACTCCCTCCC CTCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGG TGTTAGGGTGTCATCCCTGCACACTCCTTCCCCTCACATGGTGTTAGGGT GTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCCCT GCACACTCCCTCCCCTCACATGGTGTTAG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326337	T T	TCCTCCCC others(198): Show TCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCCT CACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGTG TTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGT CATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGT ACCCTC	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0109 a0001c0004t0002g0109	1	21	0.0476	205	c.177 others(224): Show c.1774-2783_1774-2782insTGTGTCATCTCTGCACACTCCCTCCC CTCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGG TGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGT GTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCT GTACCCTCCCTCCCCTCACATGGTGTTAG	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326371	G G	GCACACTC others(198): Show GCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTATACCCTCC CTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCA CATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTT AGGGTGTCATCCCTGCACACTCCTTCCCCTCACATGGTGTTAGGGTGTCA TCTCTA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0005 a0005c0009t0005	a0005c0009t0005g0168 a0005c0009t0005g0168	1	55	0.0182	205	c.177 others(224): Show c.1774-2770_1774-2769insCACACTCCCTCCCCTCACATGGTGTT AGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCA TCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTAC CCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACACTCCTTCC CCTCACATGGTGTTAGGGTGTCATCTCTA	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29			chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326371	G G	GTACCCTC others(198): Show GTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCC CTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCA CATGGTGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCACATGGTGTT AGTGTGTCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCA TCTCTA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02976.hp1 HG06807.hp1 others(1): Show HG02258.hp1 HG02976.hp1 HG06807.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0001c0006 a0002c0002 a0001c0004 a0001c0006 a0002c0002	a0001c0004t0001 a0001c0004t0003 a0001c0006t0003 others(1): Show a0001c0004t0001 a0001c0004t0003 a0001c0006t0003 a0002c0002t0003	a0001c0004t0001g0016 a0001c0004t0003g0098 a0001c0006t0003g0282 others(1): Show a0001c0004t0001g0016 a0001c0004t0003g0098 a0001c0006t0003g0282 a0002c0002t0003g0192	4	58	0.0690	205	c.177 others(224): Show c.1774-2692_1774-2691insTCTGTACCCTCCCTCCCCTCACATGG TGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCACATGGTGTTAGTGT GTCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCT ATACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCC CTCCCCTCACATGGTGTTAGGGTGTCATC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326371	G G	GTACCCTT others(198): Show GTACCCTTCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCC CTCCCCTCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCA CATGGTGTTAGGGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTT AGGGTGTCATCCCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCA TCTCTA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00544.hp1 HG00673.hp2 others(33): Show HG00140.hp1 HG00544.hp1 HG00673.hp2 HG00735.hp1 HG01071.hp2 HG01081.hp1 HG01123.hp1 HG01167.hp2 HG01169.hp1 HG01358.hp2 HG01934.hp2 HG01975.hp2 HG01981.hp1 HG02056.hp1 HG02074.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp2 HG02293.hp1 HG02300.hp2 HG02738.hp2 HG03492.hp1 HG03669.hp1 NA18941.hp2 NA18943.hp1 NA18960.hp2 NA18980.hp1 NA18982.hp1 NA18984.hp2 NA18992.hp2 NA18994.hp2 NA19009.hp1 NA19010.hp2 NA19077.hp2 NA19086.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0015 a0001c0038 others(1): Show a0001c0001 a0001c0015 a0001c0038 a0002c0005	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0015t0001 a0001c0038t0001 a0002c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 others(33): Show a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0078 a0001c0001t0001g0083 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0008g0055 a0001c0001t0008g0057 a0001c0001t0010g0005 a0001c0001t0010g0050 a0001c0015t0001g0128 a0001c0038t0001g0265 a0002c0005t0001g0195	36	90	0.4000	205	c.177 others(224): Show c.1774-2764_1774-2763insTCCTCCCCTCACATGGTGTTAGTGTG TCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTA TACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCCTCCC TCCCCTCACATGGTGTTAGGGTGTCATCCCTGCACACTCCCTCCCCTCAC ATGGTGTTAGGGTGTCATCTCTATACCCT	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
ATP9B_chr18_79064394_79383283	79326400	G G	GGTGTCAT others(198): Show GGTGTCATCTCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATC TCTGTACCCTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCTGTACCC TTCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGCACACTCCCTCCCC TCACATGGTGTTAGGGTGTCATCTCTATACCCTCCCTCCCCTCACATGGT GTTAGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp1 HG02040.hp2 others(7): Show HG00408.hp2 HG01106.hp1 HG02040.hp2 HG02056.hp2 HG02738.hp1 NA18946.hp1 NA18982.hp2 NA18994.hp1 NA19002.hp2 NA19074.hp1	a0001 a0002 a0015 a0001 a0002 a0015	a0001c0003 a0001c0004 a0002c0002 others(1): Show a0001c0003 a0001c0004 a0002c0002 a0015c0028	a0001c0003t0003 a0001c0003t0013 a0001c0004t0003 others(2): Show a0001c0003t0003 a0001c0003t0013 a0001c0004t0003 a0002c0002t0014 a0015c0028t0012	a0001c0003t0003g0112 a0001c0003t0003g0120 a0001c0003t0003g0125 others(7): Show a0001c0003t0003g0112 a0001c0003t0003g0120 a0001c0003t0003g0125 a0001c0003t0003g0131 a0001c0003t0003g0133 a0001c0003t0013g0148 a0001c0004t0003g0110 a0001c0004t0003g0119 a0002c0002t0014g0175 a0015c0028t0012g0143	10	283	0.0353	205	c.177 others(224): Show c.1774-2692_1774-2691insTCTGTACCCTCCCTCCCCTCACATGG TGTTAGGGTGTCATCTCTGTACCCTTCCTCCCCTCACATGGTGTTAGTGT GTCATCTCTGCACACTCCCTCCCCTCACATGGTGTTAGGGTGTCATCTCT ATACCCTCCCTCCCCTCACATGGTGTTAGTGTGTCATCTCTGTACCCTCC CTCCCCTCACATGGTGTTAGGGTGTCATC	ATP9B	ENSG00000166377.21	transcript	ENST00000426216.6	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr18	TogoVar
B3GAT1_chr11_134373508_134417242	134408230	T T	TATTCCAG others(198): Show TATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGT GGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAGG AGGGAGGTGGGACAGCCTCCACCGATTCCAGTGGGGTGAGGAGGGAGGTG GGACAGCCTCCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCT GCACCG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0048 a0001c0001t0035g0048	1	314	0.0032	205	c.-28 others(224): Show c.-282+3576_-282+3577insCGGTGCAGGCTGTCCCACCTCCCTCC TCACCCCACTGGAATCGGTGGAGGCTGTCCCACCTCCCTCCTCACCCCAC TGGAATCGGTGGAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGG TGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTG TCCCACCTCCCTCCTCACCCCACTGGAAT	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408393	C C	CTATTCCA others(198): Show CTATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAG TGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAG GAGGGAGGTGGGACAGCCTCCACCGATTCCAGTGGGGTGAGGAGGGAGGT GGGACAGCCTGCACCGACTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCC TGCACT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0305 a0002c0002t0002g0305	1	350	0.0029	205	c.-28 others(224): Show c.-282+3413_-282+3414insAGTGCAGGCTGTCCCACCTCCCTCCT CACCCCACTGGAGTCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACT GGAATCGGTGGAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGT GCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATCGGTGCAGGCTGT CCCACCTCCCTCCTCACCCCACTGGAATA	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408640	G G	GATTCCAG others(198): Show GATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCTATTCCAGT GGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAGG AGGGAGGTGGGACAGCCTGCACCTATTCCAGTGGGGTGAGGAGGGAGGTG GGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGATAGCCT CCACCT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0262 a0001c0001t0055g0262	1	339	0.0029	205	c.-28 others(224): Show c.-282+3166_-282+3167insAGGTGGAGGCTATCCCACCTCCCTCC TCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCAC TGGAATAGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGG TGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATAGGTGCAGGCTG TCCCACCTCCCTCCTCACCCCACTGGAAT	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408722	G G	GATTCCAG others(198): Show GATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGT GGGGTGAGGAGGGAGGTGGGACAGCCTGCACCTATTCCAGTGGGGTGAGG AGGGAGGTGGGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTG GGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGATAGCCT GCACCT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	348	0.0029	205	c.-28 others(224): Show c.-282+3084_-282+3085insAGGTGCAGGCTATCCCACCTCCCTCC TCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCAC TGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATAGG TGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGGTGCAGGCTG TCCCACCTCCCTCCTCACCCCACTGGAAT	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
B3GAT1_chr11_134373508_134417242	134408722	G G	GATTCCAG others(198): Show GATTCCAGTGGGGTGAGGAGGGAGGTGGGACAGCCTGCACCTATTCCAGT GGGGTGAGGAGGGAGGTGGGACAGCCTGCACCGACTCCAGTGGGGTGAGG AGGGAGGTGGGACAGCCTGCACCTATTCCAGTGGGGTGAGGAGGGAGGTG GGACAGCCTGCACCGATTCCAGTGGGGTGAGGAGGGAGGTGGGATAGCCT CCACCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	348	0.0029	205	c.-28 others(224): Show c.-282+2880_-282+3084dupAGGTGGAGGCTATCCCACCTCCCTCC TCACCCCACTGGAATCGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCAC TGGAATAGGTGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAGTCGG TGCAGGCTGTCCCACCTCCCTCCTCACCCCACTGGAATAGGTGCAGGCTG TCCCACCTCCCTCCTCACCCCACTGGAAT	B3GAT1	ENSG00000109956.13	transcript	ENST00000312527.9	protein_coding	1/5			chr11	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(198): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGAGGGGGAAGGAG AGGGGGGATGGGGATGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGG GGAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGAGGGAGAGGGGGAG GGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGAC TGGGGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0008 a0001c0005t0005g0008	1	2	0.5000	205	c.51+ others(218): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCTCTCCCC CTCCCCTCCCCCCTCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCTCCC CCCTCCCCCATCCCCATCCCCCCTCTCCTTCCCCCTCCCCCTCCCCCTCC CTCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BAIAP2L1_chr7_98286650_98406090	98400363	G G	GGGAGGGA others(198): Show GGGAGGGAGAGGGGGGAGGGGGAGGGAGGGGGAGGGGGGAGGGGGAGGGG GAAGGAGAGGGGGATGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGGG GAGGGGGAGAGGGGGGAGGGGAGGGGGAGAGGGGGGAGGGAGAGGGGGAG GGAGATGGACTGGGGAGGAGGGGGATGGACTGGGGAGGAGGGGGATGGAC TGGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01069.hp1 HG00323.hp2 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0161 a0001c0001t0004g0162 a0001c0001t0004g0161 a0001c0001t0004g0162	2	3	0.6667	205	c.51+ others(218): Show c.51+438_51+439insTCCCCAGTCCATCCCCCTCCTCCCCAGTCCAT CCCCCTCCTCCCCAGTCCATCTCCCTCCCCCTCTCCCTCCCCCCTCTCCC CCTCCCCTCCCCCCTCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCC CCCCTCCCCATCCCCCTCTCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCC CTCCCCCTCCCCCCTCTCCCTCC	BAIAP2L1	ENSG00000006453.14	transcript	ENST00000005260.9	protein_coding	1/13			chr7	TogoVar
BRF1_chr14_105204286_105306001	105233213	C C	CGGGGGAC others(198): Show CGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGC ATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGG GGCGGGGGACAGCCTGGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTA GCATCTCAGGAGAGAGAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTG GGGGCG	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	69	0.0145	205	c.695 others(222): Show c.695-4505_695-4301dupCGCCCCCAGCTGGGCGACTACGCGGACA GTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGGTG CCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCTGGGCGACTACGCGGA CAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTGTTGCTCCTGAGGG TGCCACGGGGCTGCCAGGCTGTCCCCC	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BRF1_chr14_105204286_105306001	105233534	C C	CAGCCCCG others(198): Show CAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGAGA GGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGCCT GGCAGCCCCGTGGCACCCTCAGGAGCAACAACCTAGCATCTCAGGAGAGA GAGGCCACACCACTGTCCGCGTAGTCGCCCAGCTGGGGGCGGGGGACAGC CTGGCA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0064 a0001c0001t0006g0064	1	70	0.0143	205	c.695 others(222): Show c.695-4622_695-4621insTGCCAGGCTGTCCCCCGCCCCCAGCTGG GCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGTTG TTGCTCCTGAGGGTGCCACGGGGCTGCCAGGCTGTCCCCCGCCCCCAGCT GGGCGACTACGCGGACAGTGGTGTGGCCTCTCTCTCCTGAGATGCTAGGT TGTTGCTCCTGAGGGTGCCACGGGGCT	BRF1	ENSG00000185024.18	transcript	ENST00000547530.7	protein_coding	6/17			chr14	TogoVar
BTAF1_chr10_91918770_92036437	92012179	C C	CCCTCTCC others(198): Show CCCTCTCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCC CCTCCCCTCCTCTCCTCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCC CTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCC CCTCCT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA19064.hp1 NA18950.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0235 a0001c0001t0002g0239	2	171	0.0117	205	c.431 others(222): Show c.4311+766_4311+767insTCTCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCTCCTCTCCTCCCCTCCCCT CCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCC CTCCTCCCCTCCCCTCCTCCCCTCCCCTCCTCCCCTCCCCTCCCCTCCTC CCCTCCCCTCCTCCCCTCCCCTCCTCC	BTAF1	ENSG00000095564.15	transcript	ENST00000265990.12	protein_coding	30/37		INFO_REALIGN_3_PRIME	chr10	TogoVar
C18orf63_chr18_74310839_74364189	74361934	A A	AATTATAT others(198): Show AATTATATATTTACGTATAATATAATTTATAATTATATATTTACGTATAA TATAATTTATAATTATATATTTACGTATAATATAATTTATAATTATATAT TTACGTATAATATAATTTATAATTATATACGTATAATATAATTTATATAA TATATGTATATAATATAATTTATAATTATATATTTATATATAATATAATT TATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG02965.hp2 HG03130.hp1 others(1): Show HG01255.hp2 HG02965.hp2 HG03130.hp1 HG03453.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0013 a0002c0007t0027 a0002c0007t0013 a0002c0007t0027	a0002c0007t0013g0022 a0002c0007t0013g0150 a0002c0007t0027g0022 a0002c0007t0013g0022 a0002c0007t0013g0150 a0002c0007t0027g0022	4	321	0.0125	205	c.54 others(216): Show c.5487_*5488insATTATATATTTACGTATAATATAATTTATAATTA TATATTTACGTATAATATAATTTATAATTATATATTTACGTATAATATAA TTTATAATTATATATTTACGTATAATATAATTTATAATTATATACGTATA ATATAATTTATATAATATATGTATATAATATAATTTATAATTATATATTT ATATATAATATAATTTATATT	C18orf63	ENSG00000206043.7	transcript	ENST00000579455.2	protein_coding		2746		chr18	TogoVar
C8orf82_chr8_144520733_144534111	144531241	A A	AGCGAGCA others(198): Show AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAG GCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGAGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAG GCACGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	1	383	0.0026	205	c.-23 others(216): Show c.-2326_-2325insCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTG CTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTCTCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGCTATGTCTAGCC CACTCCCCACCTGCTGCTCGC	C8orf82	ENSG00000213563.7	transcript	ENST00000524821.6	protein_coding		2131		chr8	TogoVar
CABLES2_chr20_62383634_62412285	62398187	A A	ACGGTGGT others(198): Show ACGGTGGTGGTGATGGTGATGATGGTGGTGATGGTGATGTGATGGTGGTG GTGGTGACGGTGGTGATGATGGTGGTGGTGGTGGTGACGGTGATGGTGGT AATGGTGGTGGTGGTGACGGTGGTGATGGTGGTGGTGATGGTGGTGGTGG TGATGATGGTGATGTGATGGTGGTGGTGGTGACGGTGGTGATGATGGTGA TGGTGG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02976.hp2 HG03540.hp1 HG02818.hp2 HG02976.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0017 a0001c0001t0006 a0001c0001t0017	a0001c0001t0006g0047 a0001c0001t0017g0173 a0001c0001t0006g0047 a0001c0001t0017g0173	3	208	0.0144	205	c.363 others(222): Show c.363-1596_363-1595insCCACCATCACCATCATCACCACCGTCAC CACCACCACCATCACATCACCATCATCACCACCACCACCATCACCACCAC CATCACCACCGTCACCACCACCACCATTACCACCATCACCGTCACCACCA CCACCACCATCATCACCACCGTCACCACCACCACCATCACATCACCATCA CCACCATCATCACCATCACCACCACCG	CABLES2	ENSG00000149679.12	transcript	ENST00000279101.10	protein_coding	1/9			chr20	TogoVar
CACNA1A_chr19_13201442_13511479	13221224	T T	TTTCTTTT others(198): Show TTTCTTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC TTTCTTTTCTTTCTTTCTTTCTCTTTCTTTCTTTCTCTTTCTTTCTTTCT TTCTCTCTCTCTCTCTCTCCTCTCTCTCTCTCTCTCTCTCTCTCTTTCTT TCTTTC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0031 a0001c0031	a0001c0031t0003 a0001c0031t0003	a0001c0031t0003g0123 a0001c0031t0003g0123	1	90	0.0111	205	c.573 others(224): Show c.5731+3442_5731+3443insGAAAGAAAGAAAGAGAGAGAGAGAGA GAGAGAGAGAGGAGAGAGAGAGAGAGAGAAAGAAAGAAAGAAAGAGAAAG AAAGAAAGAGAAAGAAAGAAAGAAAAGAAAGAAAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAAGAAAAGAA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	38/46			chr19	TogoVar
CACNA1C_chr12_2047987_2702950	2539214	C C	CTTCATAA others(198): Show CTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAA GATGCAGGCAGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGC AGGGTTTAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAA GGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGAGTTTAAGGACTTAAA GAGGGT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02965.hp2 HG03471.hp2 HG02647.hp2 HG02965.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0003 a0001c0001t0015 a0001c0008t0033 a0001c0001t0003 a0001c0001t0015 a0001c0008t0033	a0001c0001t0003g0068 a0001c0001t0015g0035 a0001c0008t0033g0080 a0001c0001t0003g0068 a0001c0001t0015g0035 a0001c0008t0033g0080	3	94	0.0319	205	c.139 others(226): Show c.1391-10689_1391-10688insTTTCATAAAGATGCAGGCAGGGTT TAAGGACTTAAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTT AAGGAGGGTTTCATAAAGATGCAGGCAGGGTTTAAGGACTTAAGGAGGGT TTCATAAAGATGCAGGCAGAGTTTAAGGACTTAAAGAGGGTTTCATAAAG ATGCAGGCAGGGTTTAAGGACTTAAGGAGGG	CACNA1C	ENSG00000151067.23	transcript	ENST00000399603.6	protein_coding	9/46		INFO_REALIGN_3_PRIME	chr12	TogoVar
CACNA1H_chr16_1148106_1226768	1185647	G G	GGCATGTG others(198): Show GGCATGTGTAGGGGCCGGAGGCGGGGTGTGTACGGGGCGGGTGAGTAGAC GGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGCGAGTA GACGGTCGGCATGCATAGGGCCGGGGGCGGGGTACGTGGGGGGCGGGTGA GTAGACGGTCGGCATGCATAGGGCCGGAGGCGGGGTACGTGGGGGGCGGG CGAGTA	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0012 a0002c0012	a0002c0012t0002 a0002c0012t0002	a0002c0012t0002g0332 a0002c0012t0002g0332	1	326	0.0031	205	c.300 others(222): Show c.300-9324_300-9323insCATGTGTAGGGGCCGGAGGCGGGGTGTG TACGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGGGGT ACGTGGGGGGCGGGCGAGTAGACGGTCGGCATGCATAGGGCCGGGGGCGG GGTACGTGGGGGGCGGGTGAGTAGACGGTCGGCATGCATAGGGCCGGAGG CGGGGTACGTGGGGGGCGGGCGAGTAG	CACNA1H	ENSG00000196557.14	transcript	ENST00000348261.11	protein_coding	2/34		INFO_REALIGN_3_PRIME	chr16	TogoVar
CADPS2_chr7_122313411_122891460	122705888	A A	ATATAATA others(198): Show ATATAATATAATATATAATATAATATATAATATATAATATAATATATAAT ATATAATATATAATATAATATAATATATAATATATTATATAATATAATGT ATAATATATTATATAATATAATATATAATATATTATATAATATAATATAT AATATATTATATAATATAATATATAATATATTATATAATATAATATATAA TATATT	intron_variant intron_variant	MODIFIER	HG01175.hp2 NA20752.hp1 HG01175.hp2 NA20752.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0012 a0001c0002t0002g0052 a0001c0002t0001g0012 a0001c0002t0002g0052	2	98	0.0204	205	c.453 others(224): Show c.453+31066_453+31067insAATATATTATATATTATATTATATAA TATATTATATATTATATTATATAATATATTATATATTATATTATATAATA TATTATATATTATATTATATAATATATTATACATTATATTATATAATATA TTATATATTATATTATATTATATATTATATATTATATATTATATTATATA TTATATATTATATTATATATTATATTATA	CADPS2	ENSG00000081803.17	transcript	ENST00000449022.7	protein_coding	2/29			chr7	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(198): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGCCTCC CCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGT	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01975.hp2 HG01981.hp1 others(4): Show HG01943.hp1 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG02683.hp1 HG03831.hp2 HG04184.hp1	a0001 a0007 a0018 a0001 a0007 a0018	a0001c0001 a0001c0002 a0001c0021 others(2): Show a0001c0001 a0001c0002 a0001c0021 a0007c0023 a0018c0078	a0001c0001t0001 a0001c0002t0001 a0001c0021t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0021t0001 a0007c0023t0001 a0018c0078t0032	a0001c0001t0001g0135 a0001c0001t0001g0238 a0001c0002t0001g0143 others(4): Show a0001c0001t0001g0135 a0001c0001t0001g0238 a0001c0002t0001g0143 a0001c0002t0001g0190 a0001c0021t0001g0167 a0007c0023t0001g0196 a0018c0078t0032g0060	7	297	0.0236	205	c.-22 others(222): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GCCTCCCCCACGTCGTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCT CCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CAPN15_chr16_522712_559636	544721	C C	CCTCCCCC others(198): Show CCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCTCCCCCACGTCGTCGTC TCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCC ACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCCCACGTC GCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGT CGCCGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0235 a0001c0003t0001g0235	1	291	0.0034	205	c.-22 others(222): Show c.-22-2081_-22-2080insGTCTCCCCCACGTCGCCTCCCCCACGTC GTCGTCTCCCCCACGTCGCCTCCCCCCACGTCGCCTCCCCCCACGTCGCC TCCCCCACGTCGCCTCCCCCACGTCGCCTCCCCCACGTCGCCGTCTCCCC CACGTCGCCGTCTCCCCCACGTCGCCGTCTCCCCCACGTCGCCGTCTCCC CCACGTCGCCGTCTCCCCCACGTCGCC	CAPN15	ENSG00000103326.12	transcript	ENST00000219611.7	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(198): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGGGGAA GGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGG GAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGA GGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAG AAGAAG	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0280 a0002c0003t0001g0280	1	43	0.0233	205	c.234 others(222): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCCTCTCCTTC TCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTTCCCCTTCCCCT TCCCCTTCCCCTTCCCCTTCCCCTTCCCTTCCCCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761439	A A	AAGAAGAA others(198): Show AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAGGAAGAAGAAGAAGAA GAAGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAGGGAGGGGG AGGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGA GGGAGAGGGAGAGGAAGAAGGAGAAGGAGAAGGAGAGGAAGAAGAAGAAG AAGAAG	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0161 a0001c0002t0003g0161	1	43	0.0233	205	c.234 others(222): Show c.234+6868_234+6869insCTTCTTCTTCTTCTTCTTCCTCTCCTTC TCCTTCTCCTTCTTCCTCTCCCTCTCCCTCTCCCTCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCTTCCCCTT CCCCTTCCCCTTCCCCTTCCCCTTCTTCTTCTTCTTCTTCTTCCTCCTCT TCTTCTTCTTCTTCTTCTTCTTCTTCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CASQ2_chr1_115695021_115773714	115761473	A A	AAGGGGAA others(198): Show AAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAAGGGGAA GGGGAAGGGGAAGGGGAAGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGAGGGAGAGGAAGAAGGA GAAGGAGAAGGAGAGGAAGAAGAAGAAGAAGAAGAAGGAGAAGGAGAAGG AGAAGG	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0077 a0001c0001t0005g0077	1	307	0.0033	205	c.234 others(222): Show c.234+6834_234+6835insCCTTCTCCTTCTCCTTCTCCTTCTTCTT CTTCTTCTTCTTCCTCTCCTTCTCCTTCTCCTTCTTCCTCTCCCTCTCCC CCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCC TCCCCTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCC CCTTCCCCTTCCCCTTCCCCTTCCCCT	CASQ2	ENSG00000118729.13	transcript	ENST00000261448.6	protein_coding	1/10			chr1	TogoVar
CCM2_chr7_44995201_45081453	45079309	A A	AGGGGACA others(198): Show AGGGGACACCAGAGAGTAATGAGGGGGCATCAGAAGGTGATGGGACATCA GAAGGCGGTGAGGGGACACCAGAGAGTAATGAGGGGACATCAGAGAGTAA TGAGGGGACATCAGAAGGCGGTGAGGAGACATCAGAAGGCAGTGAGGGGA CACCAGAGAGTAATGAGGGGACATCAGAAGGTGGTGAGGGGACACCAGAG AGTAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02976.hp2 NA18906.hp1 HG02922.hp2 HG02976.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0012 a0001c0002t0002g0063 a0001c0002t0002g0306 a0001c0002t0002g0012 a0001c0002t0002g0063 a0001c0002t0002g0306	3	246	0.0122	205	c.32 others(216): Show c.3252_*3253insGGGGACACCAGAGAGTAATGAGGGGGCATCAGAA GGTGATGGGACATCAGAAGGCGGTGAGGGGACACCAGAGAGTAATGAGGG GACATCAGAGAGTAATGAGGGGACATCAGAAGGCGGTGAGGAGACATCAG AAGGCAGTGAGGGGACACCAGAGAGTAATGAGGGGACATCAGAAGGTGGT GAGGGGACACCAGAGAGTAAT	CCM2	ENSG00000136280.17	transcript	ENST00000258781.11	protein_coding		2857		chr7	TogoVar
CCR9_chr3_45881543_45908174	45890272	A A	ATTTATAT others(198): Show ATTTATATAAATATATATATAACATATATATATTTATATAAATATATATA TAACATATATATATTTATATAAATATATATATAACATATATATATTTATA TAAATATATATATAACATATATATATTTATATAAATATATATATAACATA TATATATTTATATAAATATATATATAACATATATATTTATATAAATATAT ATATGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01884.hp2 HG02258.hp1 others(11): Show HG01109.hp1 HG01884.hp2 HG02258.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG06807.hp1 NA18906.hp1 NA19030.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0077 a0001c0001t0002g0078 others(1): Show a0001c0001t0002g0006 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0084	14	393	0.0356	205	c.-29 others(222): Show c.-29+3618_-29+3619insTTATATAAATATATATATAACATATATA TATTTATATAAATATATATATAACATATATATATTTATATAAATATATAT ATAACATATATATATTTATATAAATATATATATAACATATATATATTTAT ATAAATATATATATAACATATATATATTTATATAAATATATATATAACAT ATATATTTATATAAATATATATATGTT	CCR9	ENSG00000173585.18	transcript	ENST00000357632.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr3	TogoVar
CCZ1_chr7_5893733_5931550	5930763	C C	CGTACACA others(198): Show CGTACACAGCCCACCAAGATGCCTAGCAGCAAAGGTGTACATGTACACAG CCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAG ATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGC AGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGT GAGCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00621.hp2 HG01981.hp2 HG02056.hp2 others(5): Show HG00621.hp2 HG01981.hp2 HG02056.hp2 HG02074.hp1 HG02165.hp1 HG02602.hp1 NA18939.hp2 NA19010.hp1	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0001 a0004c0011 a0005c0009 a0001c0001 a0004c0011 a0005c0009	a0001c0001t0002 a0001c0001t0004 a0004c0011t0004 others(1): Show a0001c0001t0002 a0001c0001t0004 a0004c0011t0004 a0005c0009t0007	a0001c0001t0002g0041 a0001c0001t0004g0031 a0001c0001t0004g0032 others(5): Show a0001c0001t0002g0041 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0037 a0001c0001t0004g0083 a0004c0011t0004g0100 a0005c0009t0007g0104	8	29	0.2759	205	c.50 others(216): Show c.5076_*5077insGTACACAGCCCACCAAGATGCCTAGCAGCAAAGG TGTACATGTACACAGCCCCCCAAGATACCTAGCAGCAAAGGTGAGCATGT ACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCC CCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATG CCTAGCAGCAAAGGTGAGCAT	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding		4214		chr7	TogoVar
CCZ1_chr7_5893733_5931550	5930783	A A	ACCTAGCA others(198): Show ACCTAGCAGCAAAGGTGAGCACGTACACAGCCCCCCAAGATGCCTAGCAG CAAAGGTGAGCATGTACACAGCCCCCCAAGATACCTAGCAGCAAAGGTGA GCATGTACACAGCCCCCCAAGATGCCTAGCAGCAAAGGTGAGCATGTACA CAGCCCCTCAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCC AAGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	13	0.0769	205	c.50 others(216): Show c.5096_*5097insCCTAGCAGCAAAGGTGAGCACGTACACAGCCCCC CAAGATGCCTAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATACC TAGCAGCAAAGGTGAGCATGTACACAGCCCCCCAAGATGCCTAGCAGCAA AGGTGAGCATGTACACAGCCCCTCAAGATGCCTAGCAGCAAAGGTGAGCA TGTACACAGCCCCCCAAGATG	CCZ1	ENSG00000122674.12	transcript	ENST00000325974.9	protein_coding		4234		chr7	TogoVar
CFAP46_chr10_132803392_132947570	132888336	A A	ACCTGCCA others(198): Show ACCTGCCACCTTCACCCCTGCCGCCTGTACCCCTGCCACCTTCACCCCTG CTGCCTGCACCCCGCCACCTTCACCCCTGCCACCTGCACCCCTGCCGCCT GTACCCCTGCAGCCTGCACCTGCCACCTTCACCCCTGCCGCCTGCACCCC TGCAGCCTGCACCTGCCACCTTCACCCCTGCCACCTTCACCCCTGCCACC TGCACC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0050 a0050	a0050c0071 a0050c0071	a0050c0071t0002 a0050c0071t0002	a0050c0071t0002g0003 a0050c0071t0002g0003	1	216	0.0046	205	c.330 others(224): Show c.3305-2378_3305-2377insGGTGCAGGTGGCAGGGGTGAAGGTGG CAGGGGTGAAGGTGGCAGGTGCAGGCTGCAGGGGTGCAGGCGGCAGGGGT GAAGGTGGCAGGTGCAGGCTGCAGGGGTACAGGCGGCAGGGGTGCAGGTG GCAGGGGTGAAGGTGGCGGGGTGCAGGCAGCAGGGGTGAAGGTGGCAGGG GTACAGGCGGCAGGGGTGAAGGTGGCAGG	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	25/57			chr10	TogoVar
CHST11_chr12_104451948_104767014	104544138	A A	AAAAAAAA others(198): Show AAAAAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0005 a0001c0001t0029g0005	1	169	0.0059	205	c.119 others(224): Show c.119-57765_119-57764insAAAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CHST11	ENSG00000171310.11	transcript	ENST00000303694.6	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
CLDN7_chr17_7254903_7267478	7257617	T T	TTTTTTTT others(198): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTA TTTTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0013 a0003c0005t0002g0013	1	415	0.0024	205	c.27 others(216): Show c.2756_*2757insTAAAAATACAAAAAAATTAGCCGGGCGTAGTGGC GGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGT GAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTC CAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAA	CLDN7	ENSG00000181885.18	transcript	ENST00000360325.11	protein_coding		2285		chr17	TogoVar
CMIP_chr16_81439808_81716762	81704284	C C	CCTCTTCC others(198): Show CCTCTTCCCTGCCCCCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCC TGCCCCCTCACCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCTTC ACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTC CCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTCCCC CTTACT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0096 a0001c0001t0005g0096	1	237	0.0042	205	c.209 others(222): Show c.2091+202_2091+203insTTCCCTGCCCCCTCACCCTCCTCCCTGT CCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGCCCCCCTTAC TCTCCTCCCTGCCCCTTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCC TGCCCCCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTC ACCCTCCTCCCTGTCCCCCTTACTCTC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
CMIP_chr16_81439808_81716762	81704284	C C	CCTCTTCC others(198): Show CCTCTTCCCTGCCCCCTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCC TGCCCCCTCCCCCTCCTCCCTGCCCCCCTTACTCTCCTCCCTGCCCCTTC ACCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCCCCCTCCTC CCTGTCCCCCTTACTCTCCTCCCTGCCCCCTCACCCTCCTCCCTGTCCCC CTTACT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02132.hp1 HG02071.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0018 a0001c0001t0007 a0001c0001t0018	a0001c0001t0007g0251 a0001c0001t0018g0080 a0001c0001t0007g0251 a0001c0001t0018g0080	2	238	0.0084	205	c.209 others(222): Show c.2091+202_2091+203insTTCCCTGCCCCCTCACCCTCCTCCCTGT CCCCCTTACTCTCCTCCCTGCCCCCTCCCCCTCCTCCCTGCCCCCCTTAC TCTCCTCCCTGCCCCTTCACCCTCCTCCCTGTCCCCCTTACTCTCCTCCC TGCCCCCTCCCCCTCCTCCCTGTCCCCCTTACTCTCCTCCCTGCCCCCTC ACCCTCCTCCCTGTCCCCCTTACTCTC	CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr16	TogoVar
COL19A1_chr6_69861556_70217468	69921459	A A	ATCATATA others(198): Show ATCATATATATCATATATATCATATATATCATATATATCATATATCATAT ATATCATATATATCATATATATCATATATATCATATATCATATATATCAT ATATATTCATATATTCATATATATCATATATATTCATATATTCATATATA TTCATATATTCATATATATTCATATATATCATATATATTCATATATTCAT ATATAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	163	0.0061	205	c.267 others(222): Show c.267-6440_267-6439insCATATATATCATATATATCATATATATC ATATATCATATATATCATATATATCATATATATCATATATATCATATATC ATATATATCATATATATTCATATATTCATATATATCATATATATTCATAT ATTCATATATATTCATATATTCATATATATTCATATATATCATATATATT CATATATTCATATATATTCATATATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL4A1_chr13_110143963_110312157	110255703	G G	GGGGAAGG others(198): Show GGGGAAGGCAGGAAGGGAGGAGGAAGGCAGGAAGGGAGGGGGAAGGCAGG AAGGGAGGGGAAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGGGAAGGGGG AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGGCAGGCAGGAAGG GAAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGGAAGG CAGGAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0098 a0003c0098	a0003c0098t0003 a0003c0098t0003	a0003c0098t0003g0204 a0003c0098t0003g0204	1	171	0.0058	205	c.85- others(222): Show c.85-12970_85-12969insTTCCTGCCTTCCCCCTCCCTTCCTGCCT TTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCTGCC CCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCT GCCTTCCTCCTCCCTTCCTGCCTTCCC	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(198): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAG GGAGGGGAAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAG GCAGGAAGGGAGGGGAAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGG	intron_variant intron_variant	MODIFIER	HG03130.hp1 NA20300.hp2 HG03130.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0015 a0001c0006 a0002c0015	a0001c0006t0003 a0002c0015t0004 a0001c0006t0003 a0002c0015t0004	a0001c0006t0003g0078 a0002c0015t0004g0266 a0001c0006t0003g0078 a0002c0015t0004g0266	2	181	0.0110	205	c.85- others(222): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTTCCCCTC CCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCTTCCTGCCT TCCCCCTCCCTTCCTGCCTTTCCCCTCCCTTCCTGCCTTCCCCCTTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COL4A1_chr13_110143963_110312157	110255707	A A	AAGGCAGG others(198): Show AAGGCAGGAAGGGAGGGGGAAGGCAGGAAGGGAGGGGAAAGGCAGGAAGG GAGGGGGCAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAGGGGGAAGG CAGGAAGGGAGGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAGGAAGGGAG GGGGAAGGCAGGAAGGGAAGGGGAAGGCAGGAAGGGAAGGGGGAAGGCAG GAAGGG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp1 HG00558.hp1 HG00621.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0263 a0002c0002t0002g0318 a0002c0002t0002g0263 a0002c0002t0002g0318	2	181	0.0110	205	c.85- others(222): Show c.85-12974_85-12973insCCCTTCCTGCCTTCCCCCTTCCCTTCCT GCCTTCCCCTTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTT CCCTTCCTGCCTTCCCCCTCCCTTCCTGCCTTCCCCCTCCCTTCCTGCCT TCCCCCTTCCCTTCCTGCCTGCCCCCTCCCTTCCTGCCTTTCCCCTCCCT TCCTGCCTTCCCCCTCCCTTCCTGCCT	COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51			chr13	TogoVar
COLEC11_chr2_3590112_3649644	3591124	A A	AGAGGGGC others(198): Show AGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCACCCCTC ACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCACCACCT CCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGGTCCTCACTTCCCAGT AGGGGCGGCGGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCCGGC CGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00733.hp2 HG01081.hp2 others(11): Show HG00140.hp2 HG00733.hp2 HG01081.hp2 HG01361.hp2 HG01884.hp1 HG02258.hp1 HG02486.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03540.hp2 NA18522.hp1 NA20905.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0002c0003 others(3): Show a0001c0001 a0002c0002 a0002c0003 a0002c0005 a0002c0006 a0005c0011	a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0003t0001 a0002c0005t0002 a0002c0006t0001 a0005c0011t0001	a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0022 others(10): Show a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0026 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0204 a0002c0003t0001g0024 a0002c0005t0002g0020 a0002c0006t0001g0030 a0005c0011t0001g0031	14	347	0.0403	205	c.-40 others(216): Show c.-4071_-4070insGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCACCCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGC TGACCCCCACCACCTCCCTCCCGGACGGGGCGGCTGGCTGGGCAGAGGGG TCCTCACTTCCCAGTAGGGGCGGCGGGGCAGAGGCGCCCCTCACCTCCCG GACGGGGCGGCCGGCCGGGCG	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		3987		chr2	TogoVar
CPNE7_chr16_89570758_89602246	89587977	C C	CCCGTGTC others(198): Show CCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGTCACCC ACAGATACACGGCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCAG CCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACAC GGCCCCCCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCCGTGT CACCCG	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0309 a0002c0004t0002g0309	1	272	0.0037	205	c.928 others(220): Show c.928-697_928-696insCGTGTCACCCGCGTGTCACCCACAGATACA CGGCCCCCCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCACAGAT ACACGGCCCCCGTGTCAGCCACAGATACACGGCCCCCCGTGTCACCCGCG TGTCACCCACAGATACACGGCCCCCCGTGTCACCCGCGTGTCACCCACAG ATACACGGCCCCCCGTGTCACCCGC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CROCC2_chr2_240901336_240998311	240924335	A A	AATCCGGC others(198): Show AATCCGGCCCCCACACTGACCCGGCCCCCACACTAACCCAGCCCCCACAC TAACCCAGTCCCCACACTAACCCAGTCCCCACACTGACCCAGCCCCCACA CTGACCCGGCCCCCCACACTAACCCGGCCCCCACACTAACCCAGCCCCCA CACTAACCCGGCCCCCACACTGACCCGGCCCCCACACTAATCCGGCCCCC ACACTG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0145 a0010c0010t0001g0145	1	325	0.0031	205	c.489 others(222): Show c.489-1388_489-1387insTCCGGCCCCCACACTGACCCGGCCCCCA CACTAACCCAGCCCCCACACTAACCCAGTCCCCACACTAACCCAGTCCCC ACACTGACCCAGCCCCCACACTGACCCGGCCCCCCACACTAACCCGGCCC CCACACTAACCCAGCCCCCACACTAACCCGGCCCCCACACTGACCCGGCC CCCACACTAATCCGGCCCCCACACTGA	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31		INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240924467	A A	ACACTAAC others(198): Show ACACTAACCCAGTCCCCACACTAACCCGGCCCCCCACACTGACCCGGCCC CCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTAACCCAGTC CCCACACTAACCCGGCCCCCACACTGACCCAGCCCCCACACTAACCCGGC CCCCCACACTAACCCGGCCCCCACACTAACCCGGCCCCCACACTAACCCG GCCCCC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0020 a0020	a0020c0026 a0020c0026	a0020c0026t0001 a0020c0026t0001	a0020c0026t0001g0031 a0020c0026t0001g0031	1	250	0.0040	205	c.489 others(222): Show c.489-1257_489-1256insCACTAACCCAGTCCCCACACTAACCCGG CCCCCCACACTGACCCGGCCCCCACACTAACCCAGTCCCCACACTAACCC GGCCCCCACACTAACCCAGTCCCCACACTAACCCGGCCCCCACACTGACC CAGCCCCCACACTAACCCGGCCCCCCACACTAACCCGGCCCCCACACTAA CCCGGCCCCCACACTAACCCGGCCCCC	CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	4/31			chr2	TogoVar
CSF2RA_chrX_1263814_1314935	1298686	T T	TCCTACCC others(198): Show TCCTACCCATGACCCCTACAGTCCCCTACTCACAACCCCTACAGTCTCCT ACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGACCCCTACA GTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTATTCAGGAG CCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTGGAACCCTA CAGTCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01106.hp1 HG01175.hp1 others(22): Show HG00423.hp1 HG01106.hp1 HG01175.hp1 HG01346.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02273.hp1 HG02273.hp2 HG02683.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 NA18966.hp2 NA18975.hp2 NA18984.hp2 NA18998.hp2 NA19010.hp2 NA19011.hp1 NA19063.hp1 NA19080.hp2 NA19082.hp1 NA19091.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0013 others(1): Show a0001c0001 a0001c0002 a0001c0013 a0002c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0002t0004 a0001c0013t0003 a0002c0011t0004	a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 others(22): Show a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0102 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0078 a0001c0001t0003g0001 a0001c0001t0003g0087 a0001c0001t0004g0035 a0001c0001t0004g0042 a0001c0001t0004g0073 a0001c0001t0004g0091 a0001c0001t0004g0115 a0001c0001t0008g0121 a0001c0002t0004g0043 a0001c0002t0004g0052 a0001c0002t0004g0053 a0001c0013t0003g0081 a0002c0011t0004g0074	25	78	0.3205	205	c.811 others(222): Show c.811-1792_811-1791insCCTACAGTCCCCTACTCACAACCCCTAC AGTCTCCTACCCATGACCCCTGGCGGAACCCTACAGTCCCCTACTCACGA CCCCTACAGTCTCCTACTCATGACCCCTGGAGTAACCCTACAGTCCCCTA TTCAGGAGCCGTAGTGTGACCCTACAATCCCCTACTCACAACCCCCGGTG GAACCCTACAGTCCCCTACCCATGACC	CSF2RA	ENSG00000198223.18	transcript	ENST00000381529.9	protein_coding	9/12		INFO_REALIGN_3_PRIME	chrX	TogoVar
CYP3A5_chr7_99643194_99684996	99675633	T T	TCCCCACT others(198): Show TCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCCTTCCCCTCC CCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCCTCCCCTCCCC TCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCTCCCCCCTCCCCTCC CCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCC CCTCCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG02717.hp1 others(7): Show HG02257.hp1 HG02630.hp1 HG02717.hp1 HG02723.hp2 HG02895.hp1 HG02965.hp1 HG03139.hp1 HG03540.hp2 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0002 a0001c0001t0001g0018	10	269	0.0372	205	c.165 others(220): Show c.165+481_165+482insGGGAGGGGGGAGGAGGGGAGGGGAGGGGGG AGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAG GGGGGAGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGG GGAGGGGAGGGGGAGAGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGG GGAGGGGGAGGGGAGAGGAGTGGGG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar
CYP3A5_chr7_99643194_99684996	99675638	T T	TCTCCTCT others(198): Show TCTCCTCTCCTCCCCACTCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCC CTTCCCCTCCCCTCCTCTCCTCTCCCCCTCCCCTCCCCTCTCCTCTCCCC TCCCCTCCCCTCTCCTCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCC TCCCCCCTCCCCTCCCCTCCTCCCCCCTCCCCTCCCCTCCTCCCCCCTCC CCTCCC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02451.hp2 HG02615.hp1 others(8): Show HG01884.hp1 HG02451.hp2 HG02615.hp1 HG02886.hp1 HG02922.hp1 HG03130.hp1 HG03453.hp1 HG03453.hp2 HG03579.hp2 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0025 a0001c0001t0002g0065 others(4): Show a0001c0001t0002g0008 a0001c0001t0002g0025 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0153 a0001c0001t0002g0167	11	26	0.4231	205	c.165 others(220): Show c.165+476_165+477insGGGAGGGGAGGGGGGAGGAGGGGAGGGGAG GGGGGAGGAGGGGAGGGGAGGGGGGAGGAGGGGAGGGGAGGGGGGAGGAG GGGAGGGGAGAGGAGAGGGGAGGGGAGGGGAGAGGAGAGGGGAGGGGAGG GGGAGAGGAGAGGAGGGGAGGGGAAGGGGGAGGGGAGAGGGGAGGGGGAG GGGAGAGGAGTGGGGAGGAGAGGAG	CYP3A5	ENSG00000106258.16	transcript	ENST00000222982.8	protein_coding	2/12			chr7	TogoVar

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