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
NLRP8_chr19_55942832_55993629	55993533	C C	CCCTCCCC others(411): Show CCCTCCCCCCCTCCCCCCCTCCCCTCCCCCTTCCCCTCCCCCTCCCCTCC CCTCCCCTCCCCCCCTCCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCCCCTCCCCCCCTCCCC CCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCCCTCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCTCCCCCTCCCCCCC CCTCCCCTCCCCCTCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0121 a0001c0001t0016g0121	1	311	0.0032	418	c.56 others(429): Show c.5620_*5621insCCTCCCCCCCTCCCCCCCTCCCCTCCCCCTTCCC CTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCTCC CCTCCCCCCCTCCCCCCCCTCCCCTCCCCCTCCCCCTCCCCCCTCCCCTC CCCCTCCCCCCTCCCCTCCCCCCCTCCCCCCCTCCCCTCCCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCCTCC CTCCCCCTCCCCCCCCCTCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4905		chr19	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(411): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGC AATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCT CCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0298 a0001c0001t0007g0298	1	206	0.0049	418	c.140 others(435): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGG ATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCTGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCA CCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136535509	G G	GGTGGGGG others(411): Show GGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTG GGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGT GCAGGGTGGGAGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGC AATGAGTGCAGGGTGGGTGGAGAGGGGAGCACTCAGGATCCCTCCCAGGG GCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCCAG GGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCCC GGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCTCC CAGGGGCAATGGGTGCAGGGTGGGTGGAGGGGGGAGCACTCAGGATCCCT CCCAGGGGCAATGGGTGCA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp1 HG02074.hp1 others(8): Show HG00597.hp1 HG00609.hp1 HG02074.hp1 HG02155.hp2 HG02165.hp1 NA18952.hp2 NA18960.hp1 NA18964.hp1 NA18971.hp1 NA19005.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0008 a0001c0013 others(1): Show a0001c0001 a0001c0008 a0001c0013 a0001c0048	a0001c0001t0001 a0001c0001t0003 a0001c0008t0003 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0008t0003 a0001c0013t0001 a0001c0013t0003 a0001c0048t0001	a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0003g0218 others(8): Show a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0001t0003g0225 a0001c0001t0003g0296 a0001c0001t0003g0297 a0001c0008t0003g0228 a0001c0013t0001g0224 a0001c0013t0003g0219 a0001c0048t0001g0226	11	216	0.0509	418	c.140 others(435): Show c.140+8514_140+8515insTGCACCCATTGCCCCTGGGAGGGATCCT GAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGGATC CTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCGGGAGGGAT CCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAGGG ATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGCCCCTGGGAG GGATCCTGAGTGCTCCCCTCTCCACCCACCCTGCACTCATTGCCCCGGGA GGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCACCCATTGC CCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACTCCCACCCTGCA CCCATTGCCCCTGGGAGGGATCCTGAGTGCTCCCCCCCAC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
PACS2_chr14_105309748_105403147	105349875	A A	AGCGTGGC others(411): Show AGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAAT AGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCCCG AGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGG AGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTA ATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCC CGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCA GGAGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGC TAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGAC CCCGAGAACTTCCGGGAGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG03209.hp1 others(2): Show HG02280.hp2 HG02572.hp1 HG03209.hp1 HG03225.hp2 HG03486.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0040 a0002c0003t0001 a0002c0003t0002 a0002c0003t0040	a0002c0003t0001g0175 a0002c0003t0002g0003 a0002c0003t0002g0170 others(2): Show a0002c0003t0001g0175 a0002c0003t0002g0003 a0002c0003t0002g0170 a0002c0003t0002g0174 a0002c0003t0040g0003	5	206	0.0243	418	c.207 others(435): Show c.207+1327_207+1328insGGGAGCGCGTGGCTAATAGCAGGACCCC GAGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGG GAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCT AATAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGGCTAATAGCAGGACC CCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCC GGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCCAGGAGAGCGTGG CTAATAGCAGGACCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGA CCCCGAGAACTTCCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTT CCGGGAGCGCGTGGCTAATAGCAGGACCCCGAGAACTTCC	PACS2	ENSG00000179364.15	transcript	ENST00000447393.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(411): Show GTGTGTGCATATATATACATATATATACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	40	0.0250	418	c.196 others(439): Show c.1964+81223_1964+81224insACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATATGTGTGCATATATATACATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(411): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCAATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCAC CCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCC CCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTAC CTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTC ACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCA CCCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA19085.hp2 HG00673.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0199 a0001c0002t0001g0155 a0001c0001t0001g0199 a0001c0002t0001g0155	2	92	0.0217	418	c.36 others(429): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCAATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCATCCTT CACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCC CACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCT CCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCAC CTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTC CACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PDCD6_chr5_266646_319974	318187	A A	ACCCTGCA others(411): Show ACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCACCCTCCACCTCCCC CACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCCCCTCCCCCTGCAC CTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTACCTCCCCCCACCCT CCATCTGCCCCCAACCCTGCACCTCCCCCATCCTTCACCTCCCCTCTCAC CCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTCCC CCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTTAC CTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCAATCCTTC ACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTCCACCTCCCCCCCGCA CCCTGCACCTCCCACCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA19012.hp1 NA19056.hp2 others(1): Show NA18980.hp2 NA19012.hp1 NA19056.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0088 a0001c0002t0001g0002 a0001c0002t0001g0088	4	94	0.0426	418	c.36 others(429): Show c.3672_*3673insCCCTGCACCTCCCCCATCCTTCACCTCCCCTCTC ACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCCCACCCTGCACCTC CCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCTCCCCCCATCCTTT ACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCACCTCCCCCATCCTT CACCTCCCCTCTCACCCTCCACCTCCCCCACTCACCCTCCACCTCCCCCC CACCCTGCACCTCCCCCTCCCCCTGCACCTCCCGCCCTCACCCTGCACCT CCCCCCATCCTTTACCTCCCCCCACCCTCCATCTGCCCCCAACCCTGCAC CTCCCCCAATCCTTCACCTCCCCCCTCCCTTCATCTCCCCCCTCACCCTC CACCTCCCCCCCGCACCCTGCACCTCCCACCCTT	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding		3214		chr5	TogoVar
PDE10A_chr6_165322289_165668241	165619273	C C	CATAGTCT others(411): Show CATAGTCTAGTGTAGTGTAGTGTAGTCTAGTGCGGTGTAGTCTAGTGTAG TGTAGTCTAGTGTAGTGTAGTGTAGTGTAGTCTAGTATAGTGTAGTGTAG TGTAGTCTAGTGTAGCCTAGTGTAGTGTAGGCTAGGGTAGGCTAGTGTAG GCTAGTGTAGTGTAGTAGTGTAGTCTAGTGTAGTGTAGTCTAGTGTAGTC TAGTATAGTGTAGTGTAGTCTAGTGTACTGTAGTGTAGTATAGTGTAGTC TAGTGTGGTGTGGTGTGGTGTAGTGTAGTCTAGTGTAGTCTAGTGTACTG TAGTGTAGTGCAGTGTAGTCTAGTGTAGTGTAGTCTAGTATAGTGTAGTC CAGTGTAGTGTAGTATAGTCTAGTGTACTGTAGTGTAGTGTAGTGTAGTC TAGTGTAGTCTAGTGTACT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp1 HG02145.hp1 others(3): Show HG00642.hp1 HG01884.hp1 HG02145.hp1 HG02922.hp2 HG03195.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0015 others(2): Show a0001c0001 a0001c0006 a0001c0015 a0001c0020 a0001c0031	a0001c0001t0001 a0001c0006t0001 a0001c0006t0006 others(3): Show a0001c0001t0001 a0001c0006t0001 a0001c0006t0006 a0001c0015t0005 a0001c0020t0008 a0001c0031t0004	a0001c0001t0001g0146 a0001c0006t0001g0212 a0001c0006t0006g0210 others(3): Show a0001c0001t0001g0146 a0001c0006t0001g0212 a0001c0006t0006g0210 a0001c0015t0005g0209 a0001c0020t0008g0145 a0001c0031t0004g0211	6	202	0.0297	418	c.865 others(437): Show c.865+42673_865+42674insAGTACACTAGACTACACTAGACTACA CTACACTACACTACAGTACACTAGACTATACTACACTACACTGGACTACA CTATACTAGACTACACTACACTAGACTACACTGCACTACACTACAGTACA CTAGACTACACTAGACTACACTACACCACACCACACCACACTAGACTACA CTATACTACACTACAGTACACTAGACTACACTACACTATACTAGACTACA CTAGACTACACTACACTAGACTACACTACTACACTACACTAGCCTACACT AGCCTACCCTAGCCTACACTACACTAGGCTACACTAGACTACACTACACT ACACTATACTAGACTACACTACACTACACTACACTAGACTACACTACACT AGACTACACCGCACTAGACTACACTACACTACACTAGACTAT	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	1/21			chr6	TogoVar
PIMREG_chr17_6439455_6456469	6455713	G G	GGGGGAAG others(411): Show GGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGG GAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAA GGGGGAAGAGGGGATGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA18906.hp2 HG03471.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0047 a0001c0001t0001g0003 a0001c0001t0001g0047	2	300	0.0067	418	c.53 others(429): Show c.5366_*5367insGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGG GGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGA GGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4245		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455713	G G	GGGGGAAG others(411): Show GGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGG GAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGGGGGAAGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAA GGGGGAAGAGGGGATGGGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03471.hp2 NA18906.hp1 HG02976.hp2 HG03471.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0126 a0001c0001t0012g0128 a0001c0001t0012g0174 a0001c0001t0012g0126 a0001c0001t0012g0128 a0001c0001t0012g0174	3	210	0.0143	418	c.262 others(433): Show c.2620-71_2620-70insTCCCATCCCCTCTTCCCCCTTCCCTCCTCT CCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCTTCCCCTCTTCCCC CTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCT CCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCC CCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCC TCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTC TTCCCTCCTCTCCCCTCCCCTATTCCCCCTCCCCTCCCTTCCCCTCTTCC CCCTCCCATCTCCTCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCCCCTCT TCCCCCTCCCCTCTTCCCCCTCCCCTCCCCTCTTCCCC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PKP3_chr11_389209_409908	401430	G G	GCCCCGCT others(411): Show GCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGC TCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCACA CCCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCC GGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCC CCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCT CACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCAC ACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACACC CGCCCCGCTCACACCCGGC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0145 a0001c0002t0001g0145	1	78	0.0128	418	c.173 others(435): Show c.1737+728_1737+729insCGCTCACACCCGGCCCCGCTCACACCCG CCCCGCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCC GCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTC ACCCCCGGCCCGCTCACACCCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCG GCCCCGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCC GCTCACCCCCGGCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTC ACCCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401552	G G	GCCCGCTC others(411): Show GCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCT CACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCTCCGCTCACC CCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCC GGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGGC CCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTCACCCCGGCCCCG CTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCGCTCAC ACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCACACCCGC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0158 a0001c0003t0001g0158	1	58	0.0172	418	c.173 others(435): Show c.1737+856_1737+857insACCCGCCCCGCTCACCCCCGGCCCCGCT CACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCAC ACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCC GCTCCGCTCACCCCCGGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCC CCGCTCACCCCCGGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCG CTCACACCCGGCCCCGCTCACACCCGACCCGCTCACCCCCGGCCCCGCTC ACCCCGGCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCC CGGCCCGCTCACACCCGGCCCCGCTCACCCCCGGCCCCGCTCACACCCGG CCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCAC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHG4B_chr5_87168_194966	165481	A A	AGCTCACA others(411): Show AGCTCACACTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACG GGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCT CTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGT ACTCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCT CACACTAATGCTCTGACGGGGCGGGGCTCACTAATGCTCTGACGGGGCGG GGCTCACACTAACGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACG GGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCT CTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACT AATGCTCTGATGGGGCGGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0085 a0001c0001t0085	a0001c0001t0085g0058 a0001c0001t0085g0058	1	91	0.0110	418	c.347 others(437): Show c.3476+1960_3476+1961insAGCTCACACTAATGCTCTGACGGGGC GGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGA CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTACTC CTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGAGCTCACA CTAATGCTCTGACGGGGCGGGGCTCACTAATGCTCTGACGGGGCGGGGCT CACACTAACGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGC GGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATCCTCTGA CGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATG CTCTGATGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPP2_chr19_276043_296403	291604	G G	GGAGGGGG others(411): Show GGAGGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGA GGGGAGGGCAGCAGGGGAGAGGGAGGAGGGGAGGGGCGGGGAGGGGAGGG GAGGAGGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAG GGGAGCGGCGGGCAGGGGAGTGGCGGGCGGGGCGGGGAGGAGGGGAGGGA GGGGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGACGGCAG CGGCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGG GCGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGA GGGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGA GGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	273	0.0037	418	c.-26 others(427): Show c.-269_-268insTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCCCC TCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCCCTCCCCGCCCC TCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCCCCTCC TCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCGCCTTC CTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCCCTCCTCCCC GCCCCGCCCGCCACTCCCCTGCCCGCCGCTCCCCTGCCCGCCGCTGCCGT CCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCC CTCCCCTCCTCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCC GCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		202		chr19	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGG others(411): Show GGGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGG GGAGGGCAGCAGGGGAGGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGAGGGAGGGAGGGGGGACGGCAGCGGCGGGCAGG GGAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGAGGGGAGGGAG GGGAAGGGGAGGAGGGGGGGAGGGGAGGGGAGGAAGGCGGGGGACGGCAG CGGCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGTTAGGG GCGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGAGGGGCGGGGAGGGGAGA GGGGGGAGGGAGAGGAGGGAGGGGGAGGGGAGGGGGGAGGGGAGGAGGGA GGGGGGAGGGGAGGAGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	113	0.0088	418	c.-27 others(427): Show c.-277_-276insTCCCTCCTCCCCTCCCCCCTCCCTCCTCCCCTCCCC CCTCCCCTCCCCCTCCCTCCTCTCCCTCCCCCCTCTCCCCTCCCCGCCCC TCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAACCCTCCCCTCC TCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCCGCCTT CCTCCCCTCCCCTCCCCCCCTCCTCCCCTTCCCCTCCCTCCCCTCCTCCC CGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTCCCCTGCCCGCCGCTGCCG TCCCCCCTCCCTCCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGC CCCTCCCCTCCTCCCCCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCG CCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
RECQL4_chr8_144506288_144522833	144513846	T T	TGGGCAGT others(411): Show TGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGA GGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGGTCGGCGTGGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGAGTGAGG AGGGGTCGCGTGGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGG GCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGG GTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGA GAGAGGAGGGGTCGGCGTG	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0208 a0008c0012t0001g0208	1	410	0.0024	418	c.205 others(433): Show c.2058+81_2058+82insCACGCCGACCCCTCCTCTCTCCCCACCGCC CACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCGACCCCTCCTCTCT CCCCACCGCCCACGCCGACCCCTCCTCTCTCCCCACCGCCCACGCCGACC CCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCC CACGCCGACCCCTCCTCACTCCCCACCCACGCGACCCCTCCTCACTCCCA CCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCC TCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCACCGCCCCACG CCGACCCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCTCACTCCC CACCGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(411): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGAAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01070.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0004 a0001c0001t0001g0014	2	31	0.0645	418	c.36 others(429): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGAAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGG GAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGG AGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGG AGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(411): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGGGAGGAG GGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGGGGGGAG AGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAGGAGGAG GGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGAGGAGGG GAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	30	0.0333	418	c.36 others(429): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGA GGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAG GAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGA GGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGG GGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGG AGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGG AGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(411): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGACGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	30	0.0333	418	c.36 others(429): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGG GAAGGGGGACGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGG AGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGG AGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(411): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AAGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	30	0.0333	418	c.36 others(429): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGG GAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGG AGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGG AGGAGGGGACGGGGGAAGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
REEP6_chr19_1486181_1502927	1500849	A A	AGGGGAAG others(411): Show AGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGAGGGGGGAGGGGGAG GGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGGA GGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAGGGGGGAGGAGGGGGG GAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGGAGGGAGGAGGGGAGG GGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGAGGGGGAGGAGGGAAG GAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGGGAAGGGGGAGGGGGA GGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGGAGGGGGAGGAGGGGA AGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGGAGGAGGGGACGGGGG AGGAGGGGAGGGGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp2 others(59): Show HG00099.hp2 HG00280.hp1 HG00323.hp2 HG00423.hp2 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01175.hp1 HG01192.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01943.hp1 HG01978.hp2 HG02027.hp1 HG02056.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02615.hp1 HG02723.hp2 HG02886.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp2 HG03540.hp1 HG03927.hp1 HG03927.hp2 HG04204.hp1 HG04204.hp2 NA18948.hp2 NA18951.hp1 NA18966.hp1 NA18971.hp1 NA18980.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18995.hp1 NA19007.hp1 NA19007.hp2 NA19012.hp2 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(36): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0073 a0001c0001t0001g0084 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0104 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0152 a0001c0001t0002g0021 a0001c0001t0002g0107 a0001c0001t0002g0121 a0001c0001t0002g0142 a0001c0001t0005g0006 a0001c0001t0005g0015 a0001c0001t0014g0072 a0001c0001t0015g0001 a0001c0001t0016g0092 a0004c0005t0001g0006	62	91	0.6813	418	c.36 others(429): Show c.3638_*3639insGGGGAAGAGGGAGGAGGGGAGGGGGGAGGAGGGG AGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAAGAGGGAGGAGGGGA GGGGGGAGGAGGGGAGGGGGGAGGGGGAGGGGGAGGAGGGAGGAGGGGAG GGGGGAGGAGGGGGGGAGGAGGGGAGGGGGGGAGGAGGGGAGGGGGGAGG AGGGAGGAGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGAGGAGGGGA GGGGGAGGAGGGAAGGAGGAGGGGAGGGGGAGGAGGGGAGGGGGAGGAGG GAAGGGGGAGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGAGGGGAAGGGG AGGGGGAGGAGGGGAAGGGGAGGGGGAGGGGGGAGGAGGGGAGGGCGGGG AGGAGGGGACGGGGGAGGAGGGGAGGGGGGAGGG	REEP6	ENSG00000115255.12	transcript	ENST00000233596.8	protein_coding		2923		chr19	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(411): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGC ACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCAGCCCCCCG CACGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCTGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCGGGCCAGCCGCCCCGTCCGGG AGGGAGGCGCGGGGGGGGGGGTCGGCCAGCCGCCCCGTCCGGGAGGGAGG TGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0073 a0001c0002t0018g0073	1	5	0.2000	418	c.880 others(435): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCCCGCGCCTCCCTCCCGGACGG GGCGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGG GCAGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGC TGATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCT GACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGC TGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCT GACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
SCAMP1_chr5_78355617_78485739	78430042	T T	TTACAGTA others(411): Show TTACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01978.hp1 HG02148.hp2 HG01496.hp2 HG01978.hp1 HG02148.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0012 a0001c0002t0004 a0001c0002t0012	a0001c0002t0004g0011 a0001c0002t0004g0055 a0001c0002t0012g0054 a0001c0002t0004g0011 a0001c0002t0004g0055 a0001c0002t0012g0054	3	184	0.0163	418	c.632 others(435): Show c.632+8312_632+8313insCAGTATTTATTTATAAATACAGTATTTA TTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACA GTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTAT AAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATT TATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATA CAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTT ATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAATACAGTA TTTATTTATAAATACAGTATTTATTTATAAATACAGTATTTATTTATAAA TACAGTATTTATTTATAAATACAGTATTTATTTATAAATA	SCAMP1	ENSG00000085365.18	transcript	ENST00000621999.5	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SCNN1D_chr1_1275436_1297025	1288695	T T	TCCGTCCC others(411): Show TCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGT GTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCCGT GTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCC GTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0219 a0001c0001t0002g0219	1	237	0.0042	418	c.166 others(435): Show c.1662+665_1662+666insGTGTCTCTGCCCCGTCCCCCGTGTCTCT GCTCCGTCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCC GTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCT GCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTGCTCCGTCCCGTGT CTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC12A7_chr5_1045384_1117063	1071289	C C	CCCCCAGC others(411): Show CCCCCAGCACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCAGTGA GCCCCCAGCACACGGCATCACACTTAACGCAGCCCCCAGTGAGCCCCCAG CACACGGCATCACACTTATGCAGCCCCCAGTGAGCCCCAGCACACGGGCA TCACACTTATGCAGCCCCAGTGAGCCCCCAGCACACGGCATCACACTTAT GCAGCCCCCAGTGAGCCCCAGCACACGGGCATCACACTTATGCAGCCCCA GTGAGCCCCAGCACACGGCATCACACTTATGCAGCCCCAGTGAGCCCCAG CACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGTGAGCCCC CAGCACACGGGCATCACACTTATGCAGCCCCCAGTGAGCCCCCAGCACAC GGGCATCACACTTATGCAG	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0068 a0002c0008t0002g0068	1	108	0.0093	418	c.224 others(437): Show c.2241+2343_2241+2344insCTGCATAAGTGTGATGCCCGTGTGCT GGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGGCTC ACTGGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCCGTGTGCTGGGGC TCACTGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGCTCACTGGGGCT GCATAAGTGTGATGCCCGTGTGCTGGGGCTCACTGGGGGCTGCATAAGTG TGATGCCGTGTGCTGGGGGCTCACTGGGGCTGCATAAGTGTGATGCCCGT GTGCTGGGGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGGG CTCACTGGGGGCTGCGTTAAGTGTGATGCCGTGTGCTGGGGGCTCACTGG GGCTCACTGGGGGCTGCATAAGTGTGATGCCGTGTGCTGGGG	SLC12A7	ENSG00000113504.21	transcript	ENST00000264930.10	protein_coding	17/23			chr5	TogoVar
SLC37A3_chr7_140328752_140403530	140387779	A A	AATATAAA others(411): Show AATATAAATATATTTATATATTATATATAATATAAATATATTATATATAT TATACATAAATATAAATATATTATATATATTATACATAAATATAAATATA TTATATATATTATATATAATATAAATATATTATATATATTATATATAAAT ATAAATATATTATATATATTATATATAAATATAAATATATTATATATTAT ATAAATATAAATATATTATATATTATATAAATATAAATATATTATATATT ATATATAAATATAAATATATTATATATTATATATAATATAAATATATTAT ATATATTATATATAATATAAATATATTAATATATTATATATAATATAAAT ATATTATATATAATATAAATATATTATATATATTATATATAATATAAATA TATTATATATATTATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02622.hp2 HG02976.hp2 others(2): Show HG02486.hp2 HG02622.hp2 HG02976.hp2 HG03130.hp1 HG03516.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0009 a0001c0003t0010 a0001c0003t0002 a0001c0003t0009 a0001c0003t0010	a0001c0003t0002g0181 a0001c0003t0009g0180 a0001c0003t0009g0182 others(2): Show a0001c0003t0002g0181 a0001c0003t0009g0180 a0001c0003t0009g0182 a0001c0003t0009g0262 a0001c0003t0010g0179	5	284	0.0176	418	c.-70 others(435): Show c.-70-5184_-70-5183insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATTTATATT ATATATAATATATTAATATATTTATATTATATATAATATATATAATATAT TTATATTATATATAATATATAATATATTTATATTTATATATAATATATAA TATATTTATATTTATATAATATATAATATATTTATATTTATATAATATAT AATATATTTATATTTATATATAATATATATAATATATTTATATTTATATA TAATATATATAATATATTTATATTATATATAATATATATAATATATTTAT ATTTATGTATAATATATATAATATATTTATATTTATGTATAATATATATA ATATATTTATATTATATATAATATATAAATATATTTATAT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC45A1_chr1_8313114_8349165	8344892	A A	ACATATCC others(411): Show ACATATCCACCCATCCACCCATCCAAATATCCACTTCTCCATATATACAT CCATCCATCTATCCATCCATCCATCCACATATCCACCCATCCACCCATCC AAATATCCACTTCTCCTTAGATACATCCATCCATCTATCCATCCATCCAC CCATCTAAATATCCACTTCTCCATATATCCATCCATCTGTCCACCCATCC ATCCATCCATCCATCTATCCATCCATCCACCCATCTAAATATCCACTTCT CCATATATCCATCCATCTGTCCACCCATCCATCCATCCATCCATCTATCC ATCCATCCACCCATCTAAATATCCACTTCTTCATATATCCATCCATCCAC CCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCC ACATATCCAGCCATCCACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0219 a0001c0003t0001g0219	1	146	0.0068	418	c.87 others(427): Show c.879_*880insCATATCCACCCATCCACCCATCCAAATATCCACTTC TCCATATATACATCCATCCATCTATCCATCCATCCATCCACATATCCACC CATCCACCCATCCAAATATCCACTTCTCCTTAGATACATCCATCCATCTA TCCATCCATCCACCCATCTAAATATCCACTTCTCCATATATCCATCCATC TGTCCACCCATCCATCCATCCATCCATCTATCCATCCATCCACCCATCTA AATATCCACTTCTCCATATATCCATCCATCTGTCCACCCATCCATCCATC CATCCATCTATCCATCCATCCACCCATCTAAATATCCACTTCTTCATATA TCCATCCATCCACCCATCCATCCATCCATCCATCCATCCATCCATCCATC CATCCATCCATCCACATATCCAGCCATCCACC	SLC45A1	ENSG00000162426.16	transcript	ENST00000471889.7	protein_coding		728		chr1	TogoVar
SLC5A9_chr1_48217716_48253638	48244736	A A	ATATATAT others(411): Show ATATATATAAATTATATTTATATTATATATAAATTATATTTATATTATAT ATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAAT TATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATT TATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATT ATATATAAATTATATTTATATTATATATAAATTATATTTATATTATATAT AAATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTA TATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTA TATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTAT ATATAAATTATATTTATAT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01255.hp1 HG01109.hp1 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0206 a0002c0002t0003g0217 a0002c0002t0003g0206 a0002c0002t0003g0217	2	67	0.0299	418	c.183 others(437): Show c.1837+2216_1837+2217insAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTAT ATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTAT ATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATA TATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAA TTATATTTATATTATATATAAATTATATTTATATTATATATA	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1414453	G G	GCAGGGCG others(411): Show GCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGA AGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAGAGAAGGCACTGGGTG GGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAG GGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGG GAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGG TGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGG AGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAA GGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGAAGGGAAGGCACTG GGTGGGGGGCCTGGAGGGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0301 a0001c0001t0001g0301	1	312	0.0032	418	c.115 others(435): Show c.1156+237_1156+238insACCCTCCAGGCCCCCCACCCAGTGCCTT CCCTTCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCTTCCCTGCC CCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCC CCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCC TTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG CCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCC CCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTG CCTTCTCTGCCCTGCCCCTCCCGGCCCCCCACCCAGCGCCTTCCCCGCCC TGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92143421	T T	TATTATAT others(411): Show TATTATATATAAAATATATATATTATATAATATATATATAAAATATATAT ATTATATAATATATATATAAAATATATATATTATATAATATATATATAAA ATATATATATTATATAATATATATATAAAATATATATATTATATATTATA TAATATATATATAAAATATATATATTATATATTATATAATATATATATAA AATATATATAATATATAATATATGTAATATTATATATATAATATATTATA TATATTATATATTATATATATTATATATTATATATATTATATATTATATA TATTATATATTATATATATTATATATAATATATATTATATATTATATATA TTATATATAATATATTATATATAATATATATAATATATTATATATAATAT ATATAATATATTATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	157	0.0064	418	c.151 others(437): Show c.1513-3561_1513-3560insTATATATAAAATATATATATTATATA ATATATATATAAAATATATATATTATATAATATATATATAAAATATATAT ATTATATAATATATATATAAAATATATATATTATATAATATATATATAAA ATATATATATTATATATTATATAATATATATATAAAATATATATATTATA TATTATATAATATATATATAAAATATATATAATATATAATATATGTAATA TTATATATATAATATATTATATATATTATATATTATATATATTATATATT ATATATATTATATATTATATATATTATATATTATATATATTATATATAAT ATATATTATATATTATATATATTATATATAATATATTATATATAATATAT ATAATATATTATATATAATATATATAATATATTATATATAAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNX9_chr6_157818246_157950077	157827205	C C	CATATATT others(411): Show CATATATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAA TATATAAACATATATTATAGTTTATATAATATATAAACATATAGTTTATA TAATATATAAACATATAGTTTATATAATATATAAACATATAGTTTATATA ATATATAAACATATATTATAGTTTATATAATATATAAACATATATTATAG TTTATATAATATATACACATATATTATAGTTTATATAATATATACACATA TATTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATA TACACATATATTATAGTTTATATAATATATAAAATATATTATAGTTTATA TAATATATAAAATATATTATAGTTTATATAATATATACATATATATTATA GTTTATATAATATATACAT	intron_variant intron_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0190	1	214	0.0047	418	c.12+ others(433): Show c.12+3851_12+3852insGTTTATATAATATATAAACATATAGTTTAT ATAATATATAAACATATAGTTTATATAATATATAAACATATATTATAGTT TATATAATATATAAACATATATTATAGTTTATATAATATATACACATATA TTATAGTTTATATAATATATACACATATATTATAGTTTATATAATATATA CACATATATTATAGTTTATATAATATATACACATATATTATAGTTTATAT AATATATAAAATATATTATAGTTTATATAATATATAAAATATATTATAGT TTATATAATATATACATATATATTATAGTTTATATAATATATACATATAT ATTATAGTTTATATAATATATAAACATATATTATAGTTTATATAATATAT AAACATATATTATAGTTTATATAATATATAAACATATA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SPATC1L_chr21_46156160_46189459	46161025	G G	GGGAAGGG others(411): Show GGGAAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAG GGGGAGGTGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGA GGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACG GGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGAGGGGGAAGGGGGAG GGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAGGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAG GGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAAGGGGG AGGGGGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGAGATGGGGAGG GGGAGGGGGAGGGGGAAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	194	0.0052	418	c.35 others(427): Show c.353_*354insGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCCCCTC CCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCTCCCC CCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCC CCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCC TCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCC CCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCGTTCCCGCTTCCCCCT CCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCACCTCCC CCTCCCCCTCCCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCC CCTTCCCCCTCCCCCTTCCCCCTTCCCCTTCC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		134		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGGA others(411): Show AAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGG GAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGGGAGGGGGAAGGGG GAGGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGG GAGGGGGAGGGGGAGGGGGGGAGGGGGAGGGGGAGGGGAGGGGGAAGGGG GAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGGGGAGGGGGGAG GGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGG GAGGGGGAGGGGGGAGGGGGGAGGGGAGGGGGAGGGGGGAAGGGGGAGGG GGGAGGGGGAAGGGGGAGGGGGAACGGGGGAGGGGATATGGGGAGGGGGA GGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0028 a0009c0014t0028	a0009c0014t0028g0061 a0009c0014t0028g0061	1	12	0.0833	418	c.34 others(427): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATATCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCC TCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCTCCCCATCTCCCCTCCCCC GTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCCCCCTCCCCCTCC CCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCT CCCCCTCCCCCTCCCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCGTTCCC GCTTCCCCCTCCCCCGTTCCCGCTTCCCCCCTCCCCCTTCCCCCTCCCCC TCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCACC TCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(411): Show AGGGGAGGGGAAGGGAAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGAGGGGGAGGGGAGGGGAGGGAGG GGGAGGGGGGGGGAGGGGAGGGGGGAGGGGGGGGAGGGGAGGGGGGAGGG GGGGGAGGGGAGGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGGGGGG AGGGGAGGGGGAGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGG GGGGGGAGGGGAGGGGAGGGGAGGGGGGGGAGGGGAGGGGGAGGGGAGGG GGGGGGAGGGGAGGGGGGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGGG AGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0223 a0002c0002t0002g0223	1	6	0.1667	418	c.138 others(437): Show c.1384-5708_1384-5707insCTCCCCCTCCCCCTCCCCTCCCCCCT CCCCTCCCCTCCCCCCCCTCCCCTCCCCCCCTCCCCTCCCCCCCCCTCCC CTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCCCTCCCCCCCCCTCCC CTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCTCCCCCTCCCCTCCCCCCC CCTCCCCTCCCCTCCCCTCCCCCCCCTCCCCCTCCCCTCCCCCCCCTCCC CCCTCCCCTCCCCCCCCTCCCCCCTCCCCTCCCCCCCCCTCCCCCTCCCT CCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCCTCCCCTCCCCCTTCCCTTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(411): Show AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAG GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGGAGGGGAGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGGAGG GGAGGGGGAGGGGGAGGGGGAGGGGAGGGGAGGGGGGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0144 a0003c0003t0001g0144	1	6	0.1667	418	c.138 others(437): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SYK_chr9_90796819_90903549	90884880	T T	TACACATA others(411): Show TACACATATGTGTACATATGTGTATATATACATATATATACACATATATA TGTATATATACACATATGTGAATATGTATATATGTGTTATATATACACAT ATGTGTATATGTATATATACATATATACACATATGTGTATATACACATAT ATACATATACACATATGTGTATATACATATATACATATACACATATGTGT ATATATACATATATACATATACACATATGTGTATATATACATATATACAT ATACACCTATGTGTATATATAACACATATATACACCTATGTGTATATATA ACACATATATACACCTATGTGTATATATAACACATATATACACCTATGTG TATATATAACACATATATACACCTATGTGTATATATACATATATACATAT ACACATATGTGTATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0124 a0001c0005t0007g0124	1	220	0.0045	418	c.158 others(437): Show c.1582-2866_1582-2865insCATATGTGTACATATGTGTATATATA CATATATATACACATATATATGTATATATACACATATGTGAATATGTATA TATGTGTTATATATACACATATGTGTATATGTATATATACATATATACAC ATATGTGTATATACACATATATACATATACACATATGTGTATATACATAT ATACATATACACATATGTGTATATATACATATATACATATACACATATGT GTATATATACATATATACATATACACCTATGTGTATATATAACACATATA TACACCTATGTGTATATATAACACATATATACACCTATGTGTATATATAA CACATATATACACCTATGTGTATATATAACACATATATACACCTATGTGT ATATATACATATATACATATACACATATGTGTATATATAACA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYT2_chr1_202585596_202715454	202672778	G G	GGAGGGGG others(411): Show GGAGGGGGAGAGAGAGGGGGAGGGGGAGAGAGTGGGGAGGGAGAGAGAGA AGGGGAGGCGGAGAGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGGGGAGAGAGGGGGAGGGGGGGGAGAGAGGGGGAGGGAGGGGGGAGAGA GGGGGGAGAGGGGGAGGGAGGGGGGAGGGAGGGGGGAGAGAGAGGGGGAG GGAGGGGGAGAGAGAGGGGGAGGGAGGGAGGGGGGAGAGAGGGGGAGGGA GGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGG GAGGGAGGGGGGAGAGAGAGGGGGAGGGAGGGGGGAGAGAGAGGGGGAGG GAGGGGGGAGAGAGAGGGGGAGGGGGGGAGAGAGAGGGGGAGGGAGGGAG GGAGGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0087 a0001c0002t0001g0087	1	108	0.0093	418	c.-18 others(437): Show c.-18+37479_-18+37480insTCTCTCTCTCTCTCCCTCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCC CTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCC CTCCCCCTCTCTCTCCCCCCTCCCTCCCCCTCTCTCTCCCCCCTCCCTCC CCCTCTCTCCCCCCTCCCTCCCTCCCCCTCTCTCTCCCCCTCCCTCCCCC TCTCTCTCCCCCCTCCCTCCCCCCTCCCTCCCCCTCTCCCCCCTCTCTCC CCCCTCCCTCCCCCTCTCTCCCCCCCCTCCCCCTCTCTCCCCCCTCCCTC CCTCCCCCTCTCTCTCCCCCCTCCCTCCCTCTCCGCCTCCCCTTCTCTCT CTCCCTCCCCACTCTCTCCCCCTCCCCCTCTCTCTCCCCCTC	SYT2	ENSG00000143858.12	transcript	ENST00000367268.5	protein_coding	1/8			chr1	TogoVar
TBC1D22A_chr22_46757650_47180693	46772364	T T	TACACATA others(411): Show TACACATATATATGTATACACACATACACATATATATGTATACACACATA CACATATATATGTATACACACATACACATATATATGTATACACACATACA CATATATATGTATACACACATACACATATATATGTATACACACACACATA TATATGTATACACACACACATATATGTATACACACACATATATATGTATA CACACACATATATATGTATACACACACATATATATGTATACACACACATA TATATGTATACACACATACATATATATGTATACACACATACATATATATG TATACACACATACATATATATGTATACACACATACATATATATGTATACA CACATACATATATATGTATACACACATACATATATATGTATACACACATA CATATATATGTATACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	104	0.0096	418	c.62+ others(433): Show c.62+9517_62+9518insCACATATATATGTATACACACATACACATA TATATGTATACACACATACACATATATATGTATACACACATACACATATA TATGTATACACACATACACATATATATGTATACACACATACACATATATA TGTATACACACACACATATATATGTATACACACACACATATATGTATACA CACACATATATATGTATACACACACATATATATGTATACACACACATATA TATGTATACACACACATATATATGTATACACACATACATATATATGTATA CACACATACATATATATGTATACACACATACATATATATGTATACACACA TACATATATATGTATACACACATACATATATATGTATACACACATACATA TATATGTATACACACATACATATATATGTATACACACA	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TBCE_chr1_235362427_235457443	235412166	C C	CCCTCCCC others(411): Show CCCTCCCCTCCCGCTCCCCTCCCCCTCCCCTCCCCTCCCCATCCCCTCCC TTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCTTCCCCCT CCCCTCCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCT CCCCTCCCCCCTCCCCCTCCTCTCCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCC CCCTCCCCTCCCCCTCCTCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCC CCCCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCC CCCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCT CCCCCCTCCCCCCTCCCCT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0223 a0001c0001t0011g0223	1	165	0.0061	418	c.186 others(435): Show c.186-2265_186-2264insTCCCCTCCCGCTCCCCTCCCCCTCCCCT CCCCTCCCCATCCCCTCCCTTCCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCTTCCCCCTCCCCTCCCCCTCCCTTCCCCCTCCCCTCCCC TCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCTCTCCCCTCCC CCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCCTCCCCTC CCCCTCCTCTCCCCTCCCCCCCTCCCCTCCCCCTCCTCTCCCCTCCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCCGTCCCCTC CTCTCCCCTCCCCCCTCCCCCCGTCCCCTCCTCTCCCCTCCCCCCTCCCC CCGTCCCCTCCTCTCCCCTCCCCCCTCCCCCCTCCCCTCC	TBCE	ENSG00000284770.2	transcript	ENST00000642610.2	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
TFPT_chr19_54102020_54120657	54109797	C C	CTCCACCC others(411): Show CTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGCGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGG CCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGT CCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAG CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18950.hp2 HG00558.hp1 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0107 a0001c0001t0001g0079 a0001c0001t0001g0107	2	185	0.0108	418	c.353 others(433): Show c.353+253_353+254insAGGGGCTGTGCGCTGGGACTGAGGGAGGGC CGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAGAGG GCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGG GACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGG GCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGAGA GGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCT GGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGA GGGCCGGGTGGAGAGGGCTGAGCGCTGGGACTGAGGGAGGGCCGGGTGGA GAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGA	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding	3/5			chr19	TogoVar
TFPT_chr19_54102020_54120657	54109797	C C	CTCCACCC others(411): Show CTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCC CTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCC CAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCC CCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCACCCGG CCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGT CCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAG CCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCC GGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00408.hp1 others(77): Show HG00140.hp1 HG00323.hp1 HG00408.hp1 HG00741.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01109.hp1 HG01243.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02683.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp1 NA18522.hp1 NA18943.hp1 NA18947.hp1 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18981.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18997.hp1 NA19002.hp1 NA19004.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19067.hp2 NA19070.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp2 NA19086.hp1 NA19240.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0001 a0001c0001t0001 a0003c0005t0001	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0015 others(22): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0071 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0135 a0003c0005t0001g0097	80	263	0.3042	418	c.353 others(433): Show c.353+253_353+254insAGGGGCTGTGCGCTGGGACTGAGGGAGGGC CGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAGAGG GCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGG GACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGG GCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGAGA GGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCT GGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGA GGGCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGA GAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGA	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding	3/5			chr19	TogoVar
TFPT_chr19_54102020_54120657	54109826	C C	CTCAGCCC others(411): Show CTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTC CACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTC CCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAG CGCACAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTC TCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCC TCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCC AGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCC CTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGC CCTCCCTCAGTCCCAGTGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 NA18906.hp1 HG02895.hp1 HG02897.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0119 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0119	3	428	0.0070	418	c.353 others(433): Show c.353+224_353+225insTCACTGGGACTGAGGGAGGGCCGGGTGGAA GGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGC TGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGG AGGGCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGG AGAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGC ACTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGTGCGCTGGGACTGAG GGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGT GGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGA GCACTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGA	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding	3/5			chr19	TogoVar
TFPT_chr19_54102020_54120657	54109843	G G	GGCCCTCC others(411): Show GGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCA GTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCAC AGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCTCTCCAC CCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCT CAGTCCCAGTGCTCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGC TCAGCCCTCTCCACCCGGCCCTCCCTCAGTCCCAGTGCTCAGCCCTCTCC ACCCGGCCCTCCCTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCC CTCAGTCCCAGCGCACAGCCCCTTCCACCCGGCCCTCCCTCAGTCCCAGT GCTCAGCCCTCTCCACCCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	428	0.0023	418	c.353 others(433): Show c.353+207_353+208insTGGGTGGAGAGGGCTGAGCACTGGGACTGA GGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGG TGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTG AGCACTGGGACTGAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGGGACT GAGGGAGGGCCGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGGGCCG GGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGGGCCGGGTGGAGAGGGC TGTGCGCTGGGACTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGA CTGAGGGAGGGCCGGGTGGAAGGGGCTGTGCGCTGGGACTGAGGGAGGGC CGGGTGGAGAGGGCTGAGCACTGGGACTGAGGGAGGGC	TFPT	ENSG00000105619.14	transcript	ENST00000391759.6	protein_coding	3/5			chr19	TogoVar
THBS2_chr6_169210785_169258846	169242883	C C	CTCCCACC others(411): Show CTCCCACCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACCT TCCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTT CCCACCACTCCCACCTTCCCACCTTCCCACCACTCCCACCTTCCCACCTT CCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTC CCACCTTCCCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTC CCACCTTCCCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCC CACCTTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCC ACATTCCCACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCA CCTTCCCACATTCCCACCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0009 a0002c0010t0009	a0002c0010t0009g0205 a0002c0010t0009g0205	1	191	0.0052	418	c.695 others(433): Show c.695-926_695-925insAGGTGGGAATGTGGGAAGGTGGGAAGGTGG GAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGG AAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGG AAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAGGTGGGAG CAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGATGGGAA GATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAG GTGGGAGTGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAG ATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGGGAAGGTGGGAAGG TGGGAAGGTGGGAGTGGTGGGAAGGTGGGAAGGTGGGA	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169242951	C C	CCCACCGC others(411): Show CCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTC CCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCC CACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACCTTCCCACCTTCCTACCGCTCCCACCTTCCCACCTTCCCA CATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCAC ATTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCACC TTCCCACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCACA TTCTCACCTTCCCACCTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	204	0.0049	418	c.695 others(433): Show c.695-994_695-993insAAAGGTGGGAAGGTGAGAATGTGGGAGCGG TGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAG TGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTGGGAGCGGTAGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGG AAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGA GTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAA GATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169242951	C C	CCCACCGC others(411): Show CCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTC CCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCC CACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACCTTCCCACCTTCCCACCGCTCCCACCTTCCCACCTTCCCA CATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCAC ATTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCACC TTCCCACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCACA TTCTCACCTTCCCACCTTT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0005 a0001c0016t0005	a0001c0016t0005g0334 a0001c0016t0005g0334	1	204	0.0049	418	c.695 others(433): Show c.695-994_695-993insAAAGGTGGGAAGGTGAGAATGTGGGAGCGG TGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAG TGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTGGGAGCGGTGGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGG AAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGA GTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAA GATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169242951	C C	CCCACCGC others(411): Show CCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTC CCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCC CACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACCTTCCCACCTTCCTACCGCTCCCACCTTCCCACCTTCCCA CATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCAC ATTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCACC TTCCCACCTTCCCACCACTCCTACCTTCCCACCTTCCCACCGCTCCCACA TTCTCACCTTCCCACCTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02723.hp2 HG02809.hp2 HG02109.hp1 HG02723.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0028 a0001c0001 a0001c0028	a0001c0001t0001 a0001c0028t0001 a0001c0001t0001 a0001c0028t0001	a0001c0001t0001g0050 a0001c0028t0001g0030 a0001c0001t0001g0050 a0001c0028t0001g0030	3	206	0.0146	418	c.695 others(433): Show c.695-994_695-993insAAAGGTGGGAAGGTGAGAATGTGGGAGCGG TGGGAAGGTGGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAG TGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTGGGAGCGGTAGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGG AAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGA GTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAA GATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THBS2_chr6_169210785_169258846	169242951	C C	CCCACCGC others(411): Show CCCACCGCTCCCACCTTCCCACCTTCCCATCTTCCCATCTTCCCACCTTC CCACCACTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTC CCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCCACCTTCC CACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCACATTCCC ACCTTCCCACCTTCCCACCTTCCTACCGCTCCCACCTTCCCACCTTCCCA CATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCAC ATTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCACC TTCCCACCTTCCCACCACTCCTACCTTCCTACCTTCCCACCGCTCCCACA TTCTCACCTTCCCACCTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp2 HG00558.hp2 others(112): Show HG00099.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00673.hp2 HG00735.hp1 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01361.hp1 HG01433.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18953.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18969.hp1 NA18971.hp2 NA18975.hp2 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18987.hp1 NA18992.hp1 NA18992.hp2 NA19004.hp1 NA19007.hp2 NA19009.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19066.hp2 NA19067.hp2 NA19074.hp1 NA19081.hp2 NA19085.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0005 a0011 others(1): Show a0001 a0005 a0011 a0013	a0001c0001 a0001c0002 a0001c0005 others(12): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0016 a0001c0023 a0001c0036 a0001c0037 a0001c0038 a0001c0044 a0001c0045 a0005c0025 a0005c0049 a0011c0042 a0013c0052	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(26): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0019 a0001c0001t0028 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0002t0002 a0001c0002t0017 a0001c0005t0001 a0001c0005t0003 a0001c0005t0018 a0001c0006t0006 a0001c0006t0027 a0001c0016t0003 a0001c0023t0001 a0001c0036t0001 a0001c0037t0003 a0001c0038t0001 a0001c0044t0003 a0001c0045t0003 a0005c0025t0002 a0005c0025t0023 a0005c0049t0004 a0011c0042t0001 a0013c0052t0008	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 others(97): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0061 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0127 a0001c0001t0001g0131 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0220 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0274 a0001c0001t0001g0338 a0001c0001t0003g0011 a0001c0001t0003g0018 a0001c0001t0003g0141 a0001c0001t0003g0170 a0001c0001t0003g0172 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0179 a0001c0001t0003g0187 a0001c0001t0003g0191 a0001c0001t0003g0336 a0001c0001t0003g0337 a0001c0001t0003g0339 a0001c0001t0003g0340 a0001c0001t0003g0342 a0001c0001t0004g0062 a0001c0001t0004g0110 a0001c0001t0004g0132 a0001c0001t0004g0150 a0001c0001t0004g0156 a0001c0001t0004g0226 a0001c0001t0004g0227 a0001c0001t0005g0138 a0001c0001t0005g0151 a0001c0001t0005g0202 a0001c0001t0010g0015 a0001c0001t0010g0081 a0001c0001t0010g0093 a0001c0001t0010g0222 a0001c0001t0010g0229 a0001c0001t0019g0155 a0001c0001t0028g0193 a0001c0001t0032g0184 a0001c0001t0034g0211 a0001c0001t0036g0142 a0001c0002t0002g0002 a0001c0002t0002g0063 a0001c0002t0002g0089 a0001c0002t0002g0109 a0001c0002t0002g0148 a0001c0002t0002g0160 a0001c0002t0002g0173 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0180 a0001c0002t0002g0188 a0001c0002t0002g0198 a0001c0002t0017g0223 a0001c0002t0017g0242 a0001c0005t0001g0328 a0001c0005t0003g0308 a0001c0005t0018g0033 a0001c0006t0006g0069 a0001c0006t0006g0115 a0001c0006t0006g0171 a0001c0006t0006g0341 a0001c0006t0027g0178 a0001c0016t0003g0146 a0001c0023t0001g0129 a0001c0023t0001g0149 a0001c0036t0001g0333 a0001c0037t0003g0143 a0001c0038t0001g0161 a0001c0044t0003g0059 a0001c0045t0003g0147 a0005c0025t0002g0112 a0005c0025t0023g0079 a0005c0049t0004g0111 a0011c0042t0001g0153 a0013c0052t0008g0206	115	318	0.3616	418	c.695 others(433): Show c.695-994_695-993insAAAGGTGGGAAGGTGAGAATGTGGGAGCGG TGGGAAGGTAGGAAGGTAGGAGTGGTGGGAAGGTGGGAAGGTGGGAGCAG TGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTG GGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGG GAAGGTGGGAGCGGTAGGAAGGTGGGAAGGTGGGAAGGTGGGAATGTGGG AAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAAGGTGGGA GTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGGGAAGGTGGGAA GGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAGTGGTGGGAAGGTGGGAA GATGGGAAGATGGGAAGGTGGGAAGGTGGGAGCGGTGG	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
THEG_chr19_356747_381026	377417	C C	CCTGTGCC others(411): Show CCTGTGCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCTCTCCCC CTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCC CCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTC TCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCC TCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACC CAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCA CCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCC CCACCCAGCCTCTCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0270 a0001c0001t0001g0270	1	139	0.0072	418	c.-14 others(429): Show c.-1448_-1447insAGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGA GAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGG GAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGGCACAG AGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC AGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGG CACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGG GGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGT GGGGCACAGGGGGGAGAGGCTGGGTGGGGCACAG	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1392		chr19	TogoVar
THEG_chr19_356747_381026	377498	T T	TGTGCCCC others(411): Show TGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCC TCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCC CCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCACCCAGCCTCT CCCCCTCTGTGCCCCCACCCAGCCTCTCCCCCCTGTGCCCCACCCAGCCT CTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCACCCAGC CTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCCCCGTGCCCCACCCA GCCTCTCCCCCTCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCCCAC CCAGCCTCTCCCCCCCTGTGCCCCACCCAGCCTCTCCCCCTCTGTGCCCC ACCCAGCCTCTCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	1	357	0.0028	418	c.-15 others(429): Show c.-1529_-1528insGGGGGGGGAGAGGCTGGGTGGGGCACAGAGGGGG AGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGGCACAGAGG GGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCACGGG GGGGGAGAGGCTGGGTGGGGCACAGGGGGGGAGAGGCTGGGTGGGGCACA GAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCA CAGGGGGGAGAGGCTGGGTGGGGGCACAGAGGGGGAGAGGCTGGGTGGGG GCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGGTG GGGCACAGAGGGGGAGAGGCTGGGTGGGGCACAGAGGGGGAGAGGCTGGG TGGGGCACAGAGGGGGAGAGGCTGGGTGGGGCAC	THEG	ENSG00000105549.11	transcript	ENST00000342640.9	protein_coding		1473		chr19	TogoVar

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