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
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(435): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATAGTTTAAAACTATATAGTTTATATAGTTT AAACTATATAGTTTATATAGTTTAAACTATATAGTTTAAACTATATAGTT TTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTTTAA ACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATGT AGTTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTTAAACT ATGTAGTTTTAAACTATATAGTTTTAAACTATGTAGTTTTAAACTATATA GTTCATGTAGTTTTAAACTATATAGTTTAAAACTATATAGTTTATGTAGT TTTAAACTAGTTTATATTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0027 a0001c0003t0001g0027	1	244	0.0041	442	c.342 others(461): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA ATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATAG TTTAAAACTACATGAACTATATAGTTTAAAACTACATAGTTTAAAACTAT ATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACATAAA CTATATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAACT ATATAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTATA TAGTTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAACTA TATAAACTATATAGTTTAAACTATATAAACTATATAGTTTTAAACTATAT AAACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATAA ACTATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NRDE2_chr14_90262860_90336941	90300868	A A	AGGAGGGG others(435): Show AGGAGGGGAGGGGAGGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGG GGGAGGGGAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGGGGA AAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGGAGGG GAGGGGGAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGAAAGGGGGAA GGGAGAAGGGGAGGGGGAGGGGAAGGGGAGGAAGAGGGGAGGGGAGGAGG AAGGGGGAGGGGGAGGGGAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAG GGAGGGGAGGAGGGGGAAGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGG AGGAGGGGGGAGGGAGAGGGGAGGGGAGGAAGAAGGGGAAGGG	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0142 a0001c0001t0009g0142	1	344	0.0029	442	c.154 others(459): Show c.1545+370_1545+371insCCCTTCCCCTTCTTCCTCCCCTCCCCTC TCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTTC CCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCCCTTCCTCCTCCTTTCCC CTCCCCCTCCCCCTTCCTCCTCCCCTCCCCTCTTCCTCCCCTTCCCCTCC CCCTCCCCTTCTCCCTTCCCCCTTTCCCCTCCCCCTCCCTTCCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTTCTCCCTCC CCCATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCC CTCCCCTCCCCTCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRDE2_chr14_90262860_90336941	90300885	G G	GGGGAGGG others(435): Show GGGGAGGGGAGGAGGGGAGGGGGGAGGAGGGGAGGAGGGGAGGGGGAGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAG GGGGAGGGGGGAGGGGGAGGGGTGGGGGAGGGAGAGGGGAAAGGGAGAGG GGAAAGGGAGGGGATGGGGGAGGGAGAAGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGGAGGGGAGGGGGAGGGGGAAGGGAGGGGGAGGGGGAGGGGA AGGGGAGGAAGAGGGGAGGGGAGGAGGAAGGGGGAGGGGGAGGGGGAGGG GAAAGGAGGAGGAAGGGGGAGGGGGAAGGGGAGGGAGGGGAGGAGGGGGA AGGGAGGGGAGGAGGGGGAAGGGAGGGGAGGGGAGGAGGGGGGAGGGAGA GGGGAGGGGAGGAAGAAGGGGAAGGGGGAGGGGAGGGGAGGAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp2 HG02451.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0073 a0001c0001t0059 a0001c0001t0073	a0001c0001t0059g0178 a0001c0001t0073g0170 a0001c0001t0059g0178 a0001c0001t0073g0170	2	344	0.0058	442	c.154 others(459): Show c.1545+353_1545+354insTTCCTCCCCTCCCCTCCCCCTTCCCCTT CTTCCTCCCCTCCCCTCTCCCTCCCCCCTCCTCCCCTCCCCTCCCTTCCC CCTCCTCCCCTCCCTTCCCCCTCCTCCCCTCCCTCCCCTTCCCCCTCCCC CTTCCTCCTCCTTTCCCCTCCCCCTCCCCCTCCCCCTTCCTCCTCCCCTC CCCTCTTCCTCCCCTTCCCCTCCCCCTCCCCCTCCCTTCCCCCTCCCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCTTCTCCCTCCCCC ATCCCCTCCCTTTCCCCTCTCCCTTTCCCCTCTCCCTCCCCCACCCCTCC CCCTCCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCTCCCCCTCCCCTCCTCCCCTCCTCCCCCCTCC CCTCCTCCCCTCCC	NRDE2	ENSG00000119720.18	transcript	ENST00000354366.8	protein_coding	7/13			chr14	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(435): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATAATATATATAATATATATTATATATATAAAGTATA TATATAATATATATAATATATATTATATATATAAAGTATATATATAATAT ATATAATATATATTATATATATAAAGTATATATATAATATATATAATATA TATTATATATATAAAGTATATATATAATATATATAATATATATTATATAT ATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTATA TATATAATATATATTATATATATTATATATATAAAGTATATATATAATAT ATATTATATATATAAAATATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0007 a0001c0007t0007	a0001c0007t0007g0013 a0001c0007t0007g0013	1	308	0.0033	442	c.730 others(459): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATAATATATATTATATATATACTTTATATATATAATATATAT AATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATATACTTTATATATATAATATATATTATATATATTATATATATAC TTTATATATATAATATATATTATATATATTATATATATACTTTATATATA TAATATATATTATATATATTATATATATACTTTATATATATAATATATAT TATATATATTATATATATACTTTATATATATAATATATATTATATATATT ATATATACTTTATATATATAATATATATTATATATATTATATATATACTT TATATATATAATATATATTATATATATTATATATATACTTTATATATATA ATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(435): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTCGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGG AGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGAG GGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0098 a0001c0002t0001g0098	1	386	0.0026	442	c.92 others(453): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCCC TCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCGACCCCCTCC CTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCT CTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCT CCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCC CCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(435): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAAGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGG AGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGAG GGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0149 a0001c0002t0007g0149	1	386	0.0026	442	c.92 others(453): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCTTCTCCCTCCCTCTCCCTCCTTCTCTCCC TCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACCCCCTCC CTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCT CTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCT CCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCC CCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(435): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGG AGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ACAGGGGGAGGGAGAAGGACAGGGAGAGGGGGAGGGAGAGGGGGAGAGAG GGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0189 a0001c0002t0001g0189	1	386	0.0026	442	c.92 others(453): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTGTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCCC TCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACCCCCTCC CTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCT CTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCT CCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCC CCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(435): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGG AGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGG ACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGGAGAGGGGGAGAGAG GGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00609.hp2 HG00621.hp2 others(60): Show HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00741.hp1 HG01071.hp1 HG01074.hp1 HG01106.hp1 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02080.hp1 HG02148.hp1 HG02258.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp1 HG02683.hp1 HG02735.hp2 HG02738.hp1 HG02818.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03669.hp2 HG03704.hp1 HG04115.hp1 HG04199.hp1 HG04199.hp2 NA18939.hp1 NA18959.hp2 NA18962.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18975.hp1 NA18977.hp1 NA18989.hp1 NA19000.hp1 NA19007.hp2 NA19010.hp1 NA19012.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19080.hp2 NA19085.hp1 NA19088.hp2 NA19240.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0008	a0001c0001t0007 a0001c0001t0023 a0001c0001t0030 others(15): Show a0001c0001t0007 a0001c0001t0023 a0001c0001t0030 a0001c0002t0001 a0001c0002t0007 a0001c0002t0015 a0001c0002t0018 a0001c0002t0022 a0001c0002t0023 a0001c0002t0024 a0001c0002t0025 a0001c0002t0031 a0001c0002t0045 a0001c0002t0047 a0001c0002t0049 a0001c0004t0073 a0001c0004t0074 a0001c0008t0018	a0001c0001t0007g0243 a0001c0001t0007g0260 a0001c0001t0023g0051 others(57): Show a0001c0001t0007g0243 a0001c0001t0007g0260 a0001c0001t0023g0051 a0001c0001t0023g0242 a0001c0001t0030g0112 a0001c0001t0030g0253 a0001c0002t0001g0043 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0071 a0001c0002t0001g0092 a0001c0002t0001g0109 a0001c0002t0001g0121 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0180 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0199 a0001c0002t0001g0201 a0001c0002t0001g0202 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0246 a0001c0002t0001g0249 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0321 a0001c0002t0007g0010 a0001c0002t0007g0025 a0001c0002t0007g0036 a0001c0002t0007g0069 a0001c0002t0007g0070 a0001c0002t0007g0173 a0001c0002t0007g0250 a0001c0002t0007g0251 a0001c0002t0015g0038 a0001c0002t0015g0247 a0001c0002t0015g0286 a0001c0002t0018g0044 a0001c0002t0018g0148 a0001c0002t0018g0150 a0001c0002t0022g0001 a0001c0002t0023g0352 a0001c0002t0024g0076 a0001c0002t0024g0108 a0001c0002t0024g0287 a0001c0002t0025g0119 a0001c0002t0031g0337 a0001c0002t0045g0161 a0001c0002t0047g0030 a0001c0002t0049g0075 a0001c0004t0073g0031 a0001c0004t0074g0032 a0001c0008t0018g0016	63	386	0.1632	442	c.92 others(453): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCCTCCCCCTCTCCCTCTCCTTCTCCC TCCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTC CCTCCCCCTCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCCC TCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACCCCCTCC CTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCT CTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCT CCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCC CCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
NT5DC3_chr12_103767310_103846234	103768598	G G	GGGGAGGG others(435): Show GGGGAGGGGGGAGGGAGAGGGACAGGGACAGGGAGAGGGAGAGGGAGAGA GAGGGAGGGAGAGGGGGAGGGAGAGGGAGAGGGACAGGGAGAGGGAGGGA GAGAGGGAGAGGGAGGGGAGGGGGGAGAGGGAGGGGAGGGGGAGAGGGGG GAGAGAGAGGGAGGGGGTGGGAGGGGAGGGAGGGAGAGGGACAGGGAGAG GGAGGGAGAGGGAGAGAAGGAGGGAGAGGGAGGGAGAGGGAGAGGGAGGG AGAGGGAGGGAGAGGGAGAGGGAGGGAGGGGGGAGGGAGAGAGATGGGGG GAGGGGGAGGGAGAGGGATGGGGGAGGGAGAGGGATGGGGGAGGGAGAGG GACAGGGGGAGGGAGAAGGAGAGGGAGAGGGGGAGGAGAGGGGGAGAGAG GGAGAGGGAGAGAGAGGGAAAGGGAGTGAGAGAGAGAGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0200 a0001c0002t0050g0200	1	386	0.0026	442	c.92 others(453): Show c.9230_*9231insTCTCCCTCTCTCTCTCACTCCCTTTCCCTCTCTC TCCCTCTCCCTCTCTCCCCCTCTCCTCCCCCTCTCCCTCTCCTTCTCCCT CCCCCTGTCCCTCTCCCTCCCCCATCCCTCTCCCTCCCCCATCCCTCTCC CTCCCCCTCCCCCCATCTCTCTCCCTCCCCCCTCCCTCCCTCTCCCTCTC CCTCCCTCTCCCTCCCTCTCCCTCTCCCTCCCTCTCCCTCCTTCTCTCCC TCTCCCTCCCTCTCCCTGTCCCTCTCCCTCCCTCCCCTCCCACCCCCTCC CTCTCTCTCCCCCCTCTCCCCCTCCCCTCCCTCTCCCCCCTCCCCTCCCT CTCCCTCTCTCCCTCCCTCTCCCTGTCCCTCTCCCTCTCCCTCCCCCTCT CCCTCCCTCTCTCTCCCTCTCCCTCTCCCTGTCCCTGTCCCTCTCCCTCC CCCCTCCC	NT5DC3	ENSG00000111696.12	transcript	ENST00000392876.8	protein_coding		3711		chr12	TogoVar
OPTC_chr1_203489153_203513949	203500071	A A	ACCTCTAC others(435): Show ACCTCTACCACCCACCTCCACCTCCAGCACCCACCCCACCCCTACCACCA CCCACCACCACCACCACCACCCACCTACACCACCTACCACTACCACCACC ACCTACCTCCATCACCTACCACCACCACCACCACCCACCTCCACCTCCAC CACACACCTCCACCACCTACCACTGCCACCACCACCACCTACCTCCACCA CCACCCACCTCCACCTCCAGCACCCACCTCCACCCCTACCACCACCCACC ACCACCACCACCCACCTCCACCACCTACCACCACCACCACCACCTACCTC CACCACCACCCACCTCCACCACCACCACCACCCACCTCCACCCCTACCAC CACCACCACCACCCACCTCCACCACCTACCACCACCACCACCACCTACCT CCACCACCACCCACCTCCACCACCACCACCACCCACCTCCACC	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0119 a0002c0002t0001g0119	1	406	0.0025	442	c.732 others(457): Show c.732+223_732+224insCTACCACCCACCTCCACCTCCAGCACCCAC CCCACCCCTACCACCACCCACCACCACCACCACCACCCACCTACACCACC TACCACTACCACCACCACCTACCTCCATCACCTACCACCACCACCACCAC CCACCTCCACCTCCACCACACACCTCCACCACCTACCACTGCCACCACCA CCACCTACCTCCACCACCACCCACCTCCACCTCCAGCACCCACCTCCACC CCTACCACCACCCACCACCACCACCACCCACCTCCACCACCTACCACCAC CACCACCACCTACCTCCACCACCACCCACCTCCACCACCACCACCACCCA CCTCCACCCCTACCACCACCACCACCACCCACCTCCACCACCTACCACCA CCACCACCACCTACCTCCACCACCACCCACCTCCACCACCACCACCACCC ACCTCCACCCCT	OPTC	ENSG00000188770.10	transcript	ENST00000367222.7	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PALLD_chr4_168492052_168933441	168793121	G G	GTGTGTGC others(435): Show GTGTGTGCATATATATACATATATATACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATATGTGTGCATATATATACATATATA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG03130.hp2 HG01109.hp1 HG03130.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0008 a0002c0003t0005 a0001c0001t0008 a0002c0003t0005	a0001c0001t0008g0053 a0002c0003t0005g0109 a0001c0001t0008g0053 a0002c0003t0005g0109	2	156	0.0128	442	c.196 others(463): Show c.1964+81223_1964+81224insACATATATATGTGTGCATATATAT ACATATATATGTGTGCATATATATACATATATATGTGTGCATATATATAC ATATATATGTGTGCATATATATACATATATATGTGTGCATATATATACAT ATATATGTGTGCATATATATACATATATATGTGTGCATATATATACATAT ATATGTGTGCATATATATACATATATATGTGTGCATATATATACATATAT ATGTGTGCATATATATACATATATATGTGTGCATATATATACATATATAT GTGTGCATATATATACATATATATGTGTGCATATATATACATATATATGT GTGCATATATATACATATATATGTGTGCATATATATACATATATATGTGT GCATATATATACATATATATGTGTGCATATATATACATATATATGTGTGC ATATATATACATATATAT	PALLD	ENSG00000129116.20	transcript	ENST00000505667.6	protein_coding	10/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PASK_chr2_241101099_241154472	241115654	C C	CCCGGTCC others(435): Show CCCGGTCCTCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAGCAT GCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCGGGGC CACCCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAGC ATCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACGCCAGG GACACCCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCTCAA GCATCCCATTACACCGGGGCCACCCGGTCCCCAAGCATCCCATTACACCA GGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCC AAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACGC CAGGGACATCCGGTCCTCAAGCATCCCATTACACCAGGGGCCA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG01358.hp1 HG01433.hp2 others(30): Show HG01261.hp1 HG01358.hp1 HG01433.hp2 HG01928.hp2 HG01943.hp1 HG01975.hp2 HG01993.hp1 HG02004.hp2 HG02074.hp2 HG02293.hp1 HG02451.hp1 HG02523.hp1 HG02683.hp1 HG02886.hp2 HG02970.hp2 HG03834.hp2 NA18941.hp2 NA18945.hp2 NA18947.hp1 NA18960.hp2 NA18974.hp1 NA18980.hp1 NA18981.hp1 NA18988.hp1 NA18999.hp2 NA19070.hp2 NA19081.hp1 NA19082.hp2 NA19085.hp2 NA19091.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0016 others(2): Show a0001 a0002 a0016 a0020 a0024	a0001c0012 a0001c0025 a0001c0042 others(5): Show a0001c0012 a0001c0025 a0001c0042 a0001c0062 a0002c0007 a0016c0061 a0020c0052 a0024c0053	a0001c0012t0001 a0001c0025t0002 a0001c0042t0001 others(6): Show a0001c0012t0001 a0001c0025t0002 a0001c0042t0001 a0001c0062t0002 a0002c0007t0001 a0002c0007t0002 a0016c0061t0002 a0020c0052t0002 a0024c0053t0001	a0001c0012t0001g0111 a0001c0012t0001g0112 a0001c0012t0001g0113 others(29): Show a0001c0012t0001g0111 a0001c0012t0001g0112 a0001c0012t0001g0113 a0001c0012t0001g0157 a0001c0012t0001g0158 a0001c0012t0001g0159 a0001c0025t0002g0071 a0001c0025t0002g0073 a0001c0042t0001g0160 a0001c0062t0002g0302 a0002c0007t0001g0022 a0002c0007t0001g0222 a0002c0007t0001g0226 a0002c0007t0001g0227 a0002c0007t0001g0228 a0002c0007t0001g0230 a0002c0007t0001g0231 a0002c0007t0001g0233 a0002c0007t0001g0234 a0002c0007t0001g0235 a0002c0007t0001g0237 a0002c0007t0001g0333 a0002c0007t0001g0334 a0002c0007t0001g0335 a0002c0007t0001g0336 a0002c0007t0001g0337 a0002c0007t0002g0258 a0002c0007t0002g0270 a0002c0007t0002g0271 a0016c0061t0002g0314 a0020c0052t0002g0250 a0024c0053t0001g0238	33	376	0.0878	442	c.307 others(459): Show c.3073-242_3073-241insTGGCCCCTGGTGTAATGGGATGCTTGAG GACCGGATGTCCCTGGCGTAATGGGATGCTTGGGGACCGGTGGCCCCTGG TGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTG GGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCC GGTGTAATGGGATGCTTGAGGACCGGTGGCCCCTGGTGTAATGGGATGCT TGGGGACCGGGTGTCCCTGGCGTAATGGGATGCTTGGGGACCGGTGGCCC CTGGTGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATG CTTGGGGACCGGGTGGCCCCGGTGTAATGGGATGCTTGGGGACCGGTGGC CCCTGGTGTAATGGCATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGA TGCTTGAGGACCGG	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PCDH11Y_chrY_4995296_5747224	5525214	T T	TGGGAGGA others(435): Show TGGGAGGAGGAGGAGTGGGAGGAGGAGGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGCAGGAGGAGGA GTGGGAGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGA GGAGGGGGAGGAGGAGGGGGAGGAGGGGGGGAGGAGGAGGAGGGGGAGGA GGAGGGGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGCGGAGGGGGAGG AGGAGGGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGG GAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGA GGAGGAGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGA GGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGG	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	115	0.0087	442	c.305 others(463): Show c.3052+23989_3052+23990insGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGG AGGTGGAGGGGGTAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGG GGGAGGAGGAGGGGGAGGAGGGGGGGAGGAGGAGGAGGGGGAGGAGGAGG GGGAGGAGGAGGGGGAGGAGGAGGGGGAGGAGGCGGAGGGGGAGGAGGAG GGGGAGGAGGAGGGGGAGGGGGAGGAGGACGGGGAGGAGGAGGGGGAGGG GGAGGAGGACGGGGAGGAGGAGGGGGAGGGGGAGGAGGAGGGGGAGGAGG AGGAGTGGGGAGGAGGAGGGGGCAGGAGGAGGAGTGGGAGGTGGAGGGGG TAGGAGGAGGAGGGGGAGGAGGGGGGAGGAGGAGGAGGGGGAGGAGGAGG AGTGGGAGGAGGAGGGGG	PCDH11Y	ENSG00000099715.15	transcript	ENST00000698851.1	protein_coding	4/5		INFO_REALIGN_3_PRIME	chrY	TogoVar
PDZK1IP1_chr1_47178582_47195036	47184459	G G	GCTCCATC others(435): Show GCTCCATCCCCCACTAAACCCATCTCCCAACAAGCTCCATCCCCCACCAA GCTCCATCCCCCACTAAACCCATTCCCACTGAGTCCATCACCCACTGAGT CCATCCCCCACTGAGTCCATCCTCCACTGAACCCATGCCCCACTGAACCC ATCCCCCACTGAACCCATCCCCCACTGAACCCATCCCCCAGTGAGCCCAT TCCCCACTGAGTCCATCCTCCACTGAGTCCATCCTCCACTGAACCCATGC CCCACTGAACCCATCCCCCACTGAACCATCCCCCACTGAACCTATCCCCC ACTGAGCCCATTCCCCACTGAGTCCATCCCCCACTGAGTCCATCCCCCAC TGAGTCCATCCCTCACTGAGTCCATCCCTTGCTGAGCCCATACCCGCTAA GTCCATCCCCCGCTGAGTCCATCCCCCGCTGAGTCCATCCCCT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	426	0.0024	442	c.273 others(457): Show c.273-417_273-416insAGGGGATGGACTCAGCGGGGGATGGACTCA GCGGGGGATGGACTTAGCGGGTATGGGCTCAGCAAGGGATGGACTCAGTG AGGGATGGACTCAGTGGGGGATGGACTCAGTGGGGGATGGACTCAGTGGG GAATGGGCTCAGTGGGGGATAGGTTCAGTGGGGGATGGTTCAGTGGGGGA TGGGTTCAGTGGGGCATGGGTTCAGTGGAGGATGGACTCAGTGGAGGATG GACTCAGTGGGGAATGGGCTCACTGGGGGATGGGTTCAGTGGGGGATGGG TTCAGTGGGGGATGGGTTCAGTGGGGCATGGGTTCAGTGGAGGATGGACT CAGTGGGGGATGGACTCAGTGGGTGATGGACTCAGTGGGAATGGGTTTAG TGGGGGATGGAGCTTGGTGGGGGATGGAGCTTGTTGGGAGATGGGTTTAG TGGGGGATGGAG	PDZK1IP1	ENSG00000162366.8	transcript	ENST00000294338.7	protein_coding	3/3			chr1	TogoVar
PGAP6_chr16_365788_386978	370390	G G	GCTACCCC others(435): Show GCTACCCCTGCCCCCGGCTCTCACCCCCTACCCCGGCCCCCGGCTCTCAC CTCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTCTC ACCCCCTACCCCGGCCCCCGGCTCTCACCCGCTACCCCGGCCCCCGGCTC TCACCCCCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCCCGGC TCTCACCCGCTACCCCTGCCCCCGGCTCTCACCCGCTACCCCTGCCCCCG GCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCCC GGCTCTCACCCGCTACCCCGGCCCCCGGCTCTCACCTCCTACCCCGGCCC CGGCTCTCACCCGCTACCCCCGGCCCCCGGCTCTCACCCCCTACCCCGGC CCCCGGCTCTCACCCGCTACCCCGGCCCCCGGGCTCTCACTCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	376	0.0027	442	c.15 others(453): Show c.1596_*1597insGGAGTGAGAGCCCGGGGGCCGGGGTAGCGGGTGA GAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGCCGGGGGTAGCGGG TGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCGG GTGAGAGCCGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGCG GGTGAGAGCCGGGGGCAGGGGTAGCGGGTGAGAGCCGGGGGCAGGGGTAG CGGGTGAGAGCCGGGGGCCGGGGTAGGAGGTGAGAGCCGGGGGCCGGGGT AGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCGGG GTAGGGGGTGAGAGCCGGGGGCCGGGGTAGCGGGTGAGAGCCGGGGGCCG GGGTAGGAGGTGAGAGCCGGGGGCCGGGGTAGGGGGTGAGAGCCGGGGGC AGGGGTAG	PGAP6	ENSG00000129925.11	transcript	ENST00000431232.7	protein_coding		397		chr16	TogoVar
PIAS1_chr15_68049315_68198847	68134915	T T	TGGCTGGG others(435): Show TGGCTGGGCAGAGGCGCCCCCCACCCCCCGGACGGGGCGGCCGGCCGGGG GGGCTAACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGA GGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACC TCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCCCCACCTCCCTCC CGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCC GGACGGGGTGGCTGGCCGGGCGGGGGCTGACCCCCTCACCTCCCGGATGG GGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCACCCTCCCGGACGGG GCGGCTGGCCGGGCAGAGGGGCTCCCCACCTCCCAGCAGGGGC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0024 a0001c0001t0019g0024	1	260	0.0039	442	c.470 others(459): Show c.470-6729_470-6728insCGGGGTGGCTGGCCGGGCGGGGGCTGAC CCCCTCACCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCC CACCACCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCCCACCT CCCAGCAGGGGCGGCTGGGCAGAGGCGCCCCCCACCCCCCGGACGGGGCG GCCGGCCGGGGGGGCTAACCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGG CGCCCCTCACCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGCTGACCCCCC CACCTCCCTCCCGGACGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGA	PIAS1	ENSG00000033800.14	transcript	ENST00000249636.11	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr15	TogoVar
PIGQ_chr16_564968_589109	571082	T T	TGTGTGTG others(435): Show TGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTG TGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGTGTGTATG TGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCCTGGTGCC CGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGTGGCTAGC CTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTGGTGCCCG TGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTAGCCTTGT GTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTGTGTGTGT GTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0104 a0002c0001t0001g0104	1	408	0.0025	442	c.-10 others(459): Show c.-10+1000_-10+1001insCTGGCTAGCCTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTCTGGC TAGCCTGTGTGTGTGTGTGTCTGTCTGGCTAGCCTGGTGCCCGTGTGTGT GTGTATGTGTGTGTGTGTGTGTCTGGCTAGCCTGGCGCCCGTGGCTAGCC TGGTGCCCGTGTGTGTGTGTATGTATGTGTCTGGCTAGCCTGGCTCCCGT GGCTAGCCTGGTGCCTGTGTGTGTGTGTGTGTATGTGTCTGGCTAGCCTG GTGCCCGTGGCTAGCCTGGTGCCCGTGTGTGTGTGTGTGGGGGGGGGCTA GCCTTGTGTGTGTGTGTCTGGCTAGCCTGTGTGTGTCTGGCTAGCGTGTG TGTGTGTGTCTGGCTAGCCTGTGTGTGTGTGTGTGGCTAGCCTGGCGCCC GTGTGTGTGTGTGT	PIGQ	ENSG00000007541.17	transcript	ENST00000321878.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIMREG_chr17_6439455_6456469	6455713	G G	GGGGGAAG others(435): Show GGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGG GAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAG AGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 NA20300.hp2 HG01891.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0028 a0001c0001t0005g0086 a0001c0001t0005g0028 a0001c0001t0005g0086	2	312	0.0064	442	c.53 others(453): Show c.5366_*5367insGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGG GGGAAGAGGGGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGG AGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAG GGAAGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAA GGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGG GAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGA GGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGG GGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGA AGAGGGGAAGGGGAGAGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGG GGATGGGA	PIMREG	ENSG00000129195.16	transcript	ENST00000572447.6	protein_coding		4245		chr17	TogoVar
PITPNM3_chr17_6446263_6561555	6455713	G G	GGGGGAAG others(435): Show GGGGGAAGAGGGGAGGGGAGGGGGAAGAGGGGAGGGGGAAGAGGGGAGGG GAGGGGAGGGGGAAGAGGGGAGGGGAGGAGATGGGAGGGGGAAGAGGGGA AGGGAGGGGAGGGGGAATAGGGGAGGGGAGAGGAGGGAAGAGGGGAGGGG GAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGA AGAGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAG AGGGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAG GGGAAGGGAGGGGAGGGGGAAGAGGGGAAGGGAGGGGAGGGGGAAGAGGG GAAGGGAGGGGAGGGGGAAGAGGGGAAGGGGGGGAAGAGGGGAAGGGGAG AGGAGGGGAGGGGAGAGGAGGGAAGGGGGAAGAGGGGATGGGA	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA20300.hp2 HG01891.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0013 a0001c0007t0013 a0001c0001t0013 a0001c0007t0013	a0001c0001t0013g0195 a0001c0007t0013g0189 a0001c0001t0013g0195 a0001c0007t0013g0189	2	218	0.0092	442	c.262 others(457): Show c.2620-71_2620-70insTCCCATCCCCTCTTCCCCCTTCCCTCCTCT CCCCTCCCCTCCTCTCCCCTTCCCCTCTTCCCCCCCTTCCCCTCTTCCCC CTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCT CCCCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCC CCTCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCC TCCCTTCCCCTCTTCCCCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCCTC CCTTCCCCTCTTCCCCCTCCCCTCTTCCCTCCTCTCCCCTCCCCTATTCC CCCTCCCCTCCCTTCCCCTCTTCCCCCTCCCATCTCCTCCCCTCCCCTCT TCCCCCTCCCCTCCCCTCCCCTCTTCCCCCTCCCCTCTTCCCCCTCCCCT CCCCTCTTCCCC	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding	19/19			chr17	TogoVar
PLEKHA4_chr19_48832097_48873617	48835265	G G	GGCCTGGA others(435): Show GGCCTGGACTCCTGGGTCTGAGGGAAGAGGGGCTGAGGTCTGGACTCCTG GGTCTGAGGAAGTAGGACCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGG AAGGGCTGGGAGCCTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGAGC CTGGACTCCTGGGTCTGAGGGAGGAGGGGCTGGGGGCTTGGACTCCTGGG TCTGAGGGAGGAGGGGCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGG GCCTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGAGCCTG GACTCCTGGGTCTGAGGAAGGAGGGGCTGGGAGCCTGGACTCCTGGGTCT GAGGGAGGAGGGGCTGGGAGCCTGGACTCCTGGCTCCGAGGAAGTAGGGC CTGGGGGCCTGGACTCCTGGGTCTGAGGGAGGAAGGGCTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02647.hp2 HG03041.hp2 HG02109.hp1 HG02647.hp2 HG03041.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0072 a0004c0004t0002g0073 a0004c0004t0002g0090 a0004c0004t0002g0072 a0004c0004t0002g0073 a0004c0004t0002g0090	3	300	0.0100	442	c.20 others(453): Show c.2023_*2024insTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCA GGCCCCCAGGCCCTACTTCCTCGGAGCCAGGAGTCCAGGCTCCCAGCCCC TCCTCCCTCAGACCCAGGAGTCCAGGCTCCCAGCCCCTCCTTCCTCAGAC CCAGGAGTCCAGGCTCCCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGG CCCCCAGGCCCTACTTCCTCGGACCCAGGAGTCCAGACCTCAGCCCCTCC TCCCTCAGACCCAGGAGTCCAAGCCCCCAGCCCCTCCTCCCTCAGACCCA GGAGTCCAGGCTCCCAGCCCCTCCTCCCTCAGACCCAGGAGTCCAGGCTC CCAGCCCTTCCTCCCTCAGACCCAGGAGTCCAGGCCCCCAGGTCCTACTT CCTCAGACCCAGGAGTCCAGACCTCAGCCCCTCTTCCCTCAGACCCAGGA GTCCAGGC	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		1831		chr19	TogoVar
POU6F2_chr7_38972909_39473601	39040063	T T	TTATATAT others(435): Show TTATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTGT GTGTATATATATGTGTGTATATATATATGTATATATATATACATATATAT GTATATATATACATATATATATACACACATATATACACACATATATATAC ACACATATATATACACACACACACATAATATATATGTATTATATATATGT ATATAATATATATATATATATTATCAGCAGCTGTATTGACAAGATTTTCA TTACTTCCTAAATGTCTGCACTGGCTTGCTTTATTTTTCCTTTTAAAGTT TATATATATATATATGTATATAATATATATATGTATTATGTGTGTGTGTG TATATATATGTGTGTATATATATATGTATATATATATGTGTATATATACA TATATATATACACACATATATACACACACACACACATAATACA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0030 a0002c0008t0030	a0002c0008t0030g0051 a0002c0008t0030g0051	1	170	0.0059	442	c.106 others(461): Show c.106-45788_106-45787insATATATGTATATAATATATATATGTA TTATGTGTGTGTGTGTGTATATATATGTGTGTATATATATATGTATATAT ATATACATATATATGTATATATATACATATATATATACACACATATATAC ACACATATATATACACACATATATATACACACACACACATAATATATATG TATTATATATATGTATATAATATATATATATATATTATCAGCAGCTGTAT TGACAAGATTTTCATTACTTCCTAAATGTCTGCACTGGCTTGCTTTATTT TTCCTTTTAAAGTTTATATATATATATATGTATATAATATATATATGTAT TATGTGTGTGTGTGTATATATATGTGTGTATATATATATGTATATATATA TGTGTATATATACATATATATATACACACATATATACACACACACACACA TAATACATATATATAT	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP6R2_chr22_50338327_50450090	50397547	A A	AGGGGGGC others(435): Show AGGGGGGCCTGTCCTCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGG AGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCCTCACCAGCCTTGTCAT CCCTCTGAGCTTTTCTCTGAGGAGCATGACTTGGGATGCTGGGGGGCAGG GGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGA GTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCAT CTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCC TGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGA CTTGGGATGCTGGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCC CTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAG	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	340	0.0029	442	c.227 others(459): Show c.227+3417_227+3418insGCCTGTCCTCACCAGCCCTGTCATCTCT GAGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGCCTGTCC TCACCAGCCTTGTCATCCCTCTGAGCTTTTCTCTGAGGAGCATGACTTGG GATGCTGGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTG AGCTTTTCTCTGAGGAGTGTGACTTGGGATGGGGGCAGGGGGGCCTGTCC TCACCAGCCCTGTCATCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGGCCTGTCCTCACCAGCCCTGTCATCCCTCTGAGCTTT TCTCTGAGGAGTGTGACTTGGGATGCTGGGGGGCAGGGGGGCCTGTCCTC ACCAGCCCTGTCATCCCTCTGAGCTTTTCTCTGAGGAGTGTGACTTGGGA TGGGGGCAGGGGGG	PPP6R2	ENSG00000100239.16	transcript	ENST00000612753.5	protein_coding	3/23		INFO_REALIGN_3_PRIME	chr22	TogoVar
RAB27A_chr15_55197966_55294813	55209927	T T	TATATGTG others(435): Show TATATGTGTATATATACGTATATACACACATATATGTGTATATATACGTA TATACACACATATATGTGTATATATACGTATATACACACATATATGTGTA TATATACGTATATACACATATATGTGTATATATACGTATACATACACACA TATATGTGTATATATACGTATACATACACATATATGTGTATATATACGTA TACATACACATATATGCGTATATATACGTATACATACACATATATGCGTA TATATACGTATATACACACATGTGTGTGTATACGTATATATACACACATA TGTGTGTGTATACGGATATACACATATATGTGTGTATATATACGTATATA CACACATATGTGTGTATATATACGTATATACACATATATGTGTGTATATC CGTATATATACACATATATGTGTGTATATCCGTATATATACAC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03130.hp1 HG06807.hp2 HG02970.hp2 HG03130.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0005 a0001c0001t0010g0154 a0001c0001t0010g0155 a0001c0001t0010g0005 a0001c0001t0010g0154 a0001c0001t0010g0155	3	320	0.0094	442	c.468 others(459): Show c.468-4223_468-4222insGTGTATATATACGGATATACACACATAT ATGTGTATATATACGGATATACACACATATATGTGTATATACGTATATAT ACACACATATGTGTGTATATACGTATATATACACACATATATGTGTATAT CCGTATACACACACATATGTGTGTATATATACGTATACACACACATGTGT GTATATACGTATATATACGCATATATGTGTATGTATACGTATATATACGC ATATATGTGTATGTATACGTATATATACACATATATGTGTATGTATACGT ATATATACACATATATGTGTGTATGTATACGTATATATACACATATATGT GTATATACGTATATATACACATATATGTGTGTATATACGTATATATACAC ATATATGTGTGTATATACGTATATATACACATATATGTGTGTATATACGT ATATATACACATAT	RAB27A	ENSG00000069974.17	transcript	ENST00000336787.6	protein_coding	6/6			chr15	TogoVar
RFC1_chr4_39282456_39371362	39348428	A A	AAAAGGAA others(435): Show AAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAA GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGG GAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGA AAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAA GGGAAAGGGAAAGGGAAAGGGAAAGGGAAAGGGAAAAGGAAAAGGAAAAG GAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAAGGA AAAGGAAAAGGAAAAGGAAAAGGAAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0087 a0001c0003t0001g0087	1	276	0.0036	442	c.132 others(459): Show c.132+2919_132+2920insCTTTCCTTTCCTTTCCTTTTCCTTTTCC TTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTT TTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCCTTTCCCTTTCCCTTT CCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCT TTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTT CCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCC CTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCTTTCCCT TTCCCTTTCCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTTCCTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RGPD5_chr2_109789305_109862705	109794573	A A	ACCCGGCC others(435): Show ACCCGGCCGGGGGGGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGGCG GCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCGGC CCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCG GCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGG CCCCGGCCCGGCCGGGGGGCGGCGGCGGCCCCGGCCCCGGCCCGGCCGGG GGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCGGCCGGGG GGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGG GGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGG	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	40	0.0250	442	c.72+ others(453): Show c.72+49_72+50insGGAGGGGGGGGGGCGGCGGCGGCGGCCTCGGCCC GGCCGGGGGGCGGCGGCGGCGGCGGCCTCGGCCCGGCCGGGGGGCGGCGG CGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCCCGGCCCCGGCCCCG GCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCCGGCCC CGGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCCCC GGCCCCGGCCCGGCCGGGGGGCGGCGGCGGCCCCGGCCCCGGCCCGGCCG GGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCCCGGCCCGGCCGG GGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGGCC GGGGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCGGCCCGG CCGGGGGG	RGPD5	ENSG00000015568.13	transcript	ENST00000016946.8	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
RNF17_chr13_24759169_24884921	24881874	C C	CTATATAG others(435): Show CTATATAGATATATAGATGCATCTATATAGATATATAATCTATATAGATA TATAATCTATATAGATATATAGATACATCTATATAGATATATAGATACAT CTATATAGATATATAGATACATCTATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CTATATATAGATACATCTATATATAGATACATCTATATATAGATACATCT ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	426	0.0024	442	c.21 others(453): Show c.2148_*2149insTATATAGATATATAGATGCATCTATATAGATATA TAATCTATATAGATATATAATCTATATAGATATATAGATACATCTATATA GATATATAGATACATCTATATAGATATATAGATACATCTATATAGATACA TCTATATATAGATACATCTATATATAGATACATCTATATATAGATACATC TATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTA TATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		1954		chr13	TogoVar
RPH3AL_chr17_207389_357807	305062	G G	GAGGGGAC others(435): Show GAGGGGACAGGGCGAGAGAGGGGACAGGGCGAGAGGGGACAGGGCGGGAG GGGGACAGGGCGAGAGGGGGACAGGGCGAGAGAGGGGACAGGGCGAGAGG GGGACAGGGCGAGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGG GGACAGGGCGAGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGAGG GGGACAGGGCGAGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGAGG GGACAGGGCGGGAGGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGG ACAGGGCGAGAGGGGGACAGGGCGAGAGAGGGGACAGGGCGAGAGAGGGG ACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGGACA GGGCGAGAGAGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGA	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0044 a0001c0008t0001g0044	1	133	0.0075	442	c.351 others(461): Show c.351+14357_351+14358insTCTCTCGCCCTGTCCCCCTCTCGCCC TGTCCCCTCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCTCTCTCGCCCTGTCCCCTCTCTCGCCCTG TCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCC CCCCTCCCGCCCTGTCCCCTCTCTCGCCCTGTCCCCCTCCCGCCCTGTCC CCCTCTCGCCCTGTCCCCCTCTCTCGCCCTGTCCCCCTCTCGCCCTGTCC CCTCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCC CTCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCTCTCTCGCCCTGTCCC CCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCTC TCTCGCCCTGTCCCCT	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	305109	A A	AGGGGACA others(435): Show AGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGGGAGGGGGA CAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACA GGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGG CGGGAGGGGGACAGGGCGAGAGGGGGACAGGGCGAGAGGGGACAGGGCGG GAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGA GGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGGGAGGG GGACAGGGCGGGAGGGGGACAGGGCGGGAGGGGGACAGGGCGAGAGGGGG ACAGGGCGAGAGGGGACAGGGCGGGAGGGGGACAGGGCGAGAG	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0005 a0003c0005t0005	a0003c0005t0005g0035 a0003c0005t0005g0035	1	133	0.0075	442	c.351 others(461): Show c.351+14310_351+14311insCTCTCGCCCTGTCCCCCTCCCGCCCT GTCCCCTCTCGCCCTGTCCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTC CCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCT CCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTCCCCCTCTC GCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGC CCTGTCCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCT GTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCCCTCTCGCCCTGTC CCCCTCTCGCCCTGTCCCCCTCCCGCCCTGTCCCCCTCCCGCCCTGTCCC CTCTCGCCCTGTCCCC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RSPH1_chr21_42467486_42501224	42477225	C C	CCCACAGC others(435): Show CCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACCCCACAGCC CGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC CCCACACCCTCTGTCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCC TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCA CAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGG GGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTA CACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTG ACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCA CCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0348 a0001c0001t0002g0348	1	408	0.0025	442	c.727 others(455): Show c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG GGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG GTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG TGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCA TCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGC TGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGACA GAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTG GGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCACCCC CGGGCTGTGG	RSPH1	ENSG00000160188.10	transcript	ENST00000291536.8	protein_coding	7/8			chr21	TogoVar
RSRC1_chr3_158105089_158550730	158229041	C C	CACATACG others(435): Show CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTG TATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACATA CGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACA CACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATA TAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATG TGTATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTG TATATGTGTATATAAACACACATACGTGTATATGTGTATATAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	276	0.0036	442	c.494 others(461): Show c.494+25799_494+25800insTACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACACATACGTGTATATGTGTATATAAACACACATACG TGTATATGTGTATATAAACACACATACGTGTATATGTGTATATAAACACA CATACGTGTATATGTGTATATAAACACACATACGTGTATATGTGTATATA AACACACATACGTGTATATGTGTATATAAACACACATACGTGTATATGTG TATATAAACACACATACGTGTATATGTGTATATAAACACACATACGTGTA TATGTGTATATAAACA	RSRC1	ENSG00000174891.14	transcript	ENST00000611884.5	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
RTN1_chr14_59590983_59875776	59750591	T T	TATATCTA others(435): Show TATATCTATAATATATATATTATATCTATAATATATAATATATCTATAAT ATATATATTATATCTATAATATATAATATATCTATAATATATATATTATA TCTATAATATATAATATATCTATAATATATATATTATATCTATAATATAT AATATATCTATAATATATATATTATATCTATAATATATAATATATCTATA ATATATAATATATCTATAATATATATATTATATATATAATATATAATATA TTATATATATAATATATAATATATTATATATATAATATATAATATATAAT ATATTATATATATAATATATAATATATTATATCTATAATATATTATATGT AATATATATATGTTATATCTATAATATATATTATATCTATAATATATAAT ATATTATATCTATAATATATAATATATTATATCTATAAATATA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	172	0.0058	442	c.242 others(459): Show c.242-4111_242-4110insTATATTTATAGATATAATATATTATATA TTATAGATATAATATATTATATATTATAGATATAATATATATTATAGATA TAACATATATATATTACATATAATATATTATAGATATAATATATTATATA TTATATATATAATATATTATATATTATATATTATATATATAATATATTAT ATATTATATATATAATATATTATATATTATATATATAATATATATATTAT AGATATATTATATATTATAGATATATTATATATTATAGATATAATATATA TATTATAGATATATTATATATTATAGATATAATATATATATTATAGATAT ATTATATATTATAGATATAATATATATATTATAGATATATTATATATTAT AGATATAATATATATATTATAGATATATTATATATTATAGATATAATATA TATATTATAGATAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
SCNN1D_chr1_1275436_1297025	1288563	T T	TCCGTCCC others(435): Show TCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCCCGTGT CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCCC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCCC GTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCCCGTGTCT CTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCC	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0140 a0001c0001t0002g0140	1	290	0.0035	442	c.166 others(459): Show c.1662+533_1662+534insGTGTCTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCC CTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGT GTCCCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCCCTGCTCCGTC CCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGC TCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCT CTGCCCCGTCCCCCGTGTCTCTGCCCCGTCCCCCGTGTCTCTGCTCCGTC CCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTC CGTCCCCCGTGTCTCTGCCCCGTCCCGTGTCTCTGCCCCGTCCCCCGTGT CTCTGCCCCGTCCC	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC22A23_chr6_3263973_3462050	3356090	C C	CGGGGGGG others(435): Show CGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGCAGGGGGGAGGCGG GGGGGCGGGAGGGGAGGAGGCGGGGAGGCGGGAGGGGGAGGAGGCGGGGG GGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAGGCGGGGGGGCG GGAGGGGAGGAGGCGGGGGGGCGGGAGGGGGCCGGAGGGGGAGGAGGCGG GGGGGGCGGGAGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGG AGGCGGGGGGGCGGGAGGGGGCGGGAGGGGAAGGAGGCGGGGGGGGCGGG GGGGAGGGAGGGGAAGGAGGCGGGGGGGGCGGGAGGGGGAGGACGCGGGG GGGGCGGGGGGGGCGGGAGGGGGAGGAGGCGGGGGGGCGGGAGGGGGGAG GCGGGAGGGGAAGGAGGCGGGGGGGGGCGGGGGGGGCGGGAGG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02559.hp1 HG02630.hp2 HG02451.hp2 HG02559.hp1 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0028 a0001c0001t0001 a0001c0001t0004 a0001c0001t0028	a0001c0001t0001g0024 a0001c0001t0004g0143 a0001c0001t0028g0015 a0001c0001t0001g0024 a0001c0001t0004g0143 a0001c0001t0028g0015	3	222	0.0135	442	c.914 others(461): Show c.914-32089_914-32088insCCTCCCGCCCCCCCCGCCCCCCCCCG CCTCCTTCCCCTCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCT CCCGCCCCCCCCGCCCCCCCCGCGTCCTCCCCCTCCCGCCCCCCCCGCCT CCTTCCCCTCCCTCCCCCCCGCCCCCCCCGCCTCCTTCCCCTCCCGCCCC CTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCC CGCCCCTCCCGCCCCCCCCGCCTCCTCCCCCTCCGGCCCCCTCCCGCCCC CCCGCCTCCTCCCCTCCCGCCCCCCCGCCTCCCCCCTCCCGCCCCCCCGC CTCCTCCCCCTCCCGCCCCCCCGCCTCCTCCCCCTCCCGCCTCCCCGCCT CCTCCCCTCCCGCCCCCCCGCCTCCCCCCTGCCGCCCCCCCGCCTCCTCC CCCTCCCGCCCCCCCC	SLC22A23	ENSG00000137266.15	transcript	ENST00000406686.8	protein_coding	3/9			chr6	TogoVar
SLC5A9_chr1_48217716_48253638	48244802	T T	TTATATAT others(435): Show TTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATAT ATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAAT TATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATT TATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATT ATATATAAATTATATTTATATTATATATAAATTATATTTATATTATATAT AAATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTA TATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTA TATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTAT ATATAAATTATATTTATATTATATATAAATTATATTTATATTA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0231 a0002c0002t0003g0231	1	420	0.0024	442	c.183 others(461): Show c.1837+2216_1837+2217insAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTAT ATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTAT ATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTATA TATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAA TTATATTTATATTATATATAAATTATATTTATATTATATATATAAATTAT ATTTATATTATATATA	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC6A3_chr5_1387794_1450440	1422856	C C	CCAGTGCT others(435): Show CCAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCACGGTGCTGGGT GCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTACCCACCGCTGC CCAGTGCTGCCCACGCTGCTGGGTGCCCACCGATGCCCACAGTGCTGCCC ACGCTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGT GCCCACCGCTGCCCACAGTACTGCCCAAGGTGCTGGGTAACCACCGCTGC CCACAGTGCTGCTCACGGTGCTGGGTACCCACCGCTGCCCACAGTGCTGC CCACGGTGCTGGGTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGG GTGCCCACCGCTGCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCT GCCCACAGTGCTGCCCACGCTGCTGGGTGCCCACCGCTGCCCA	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	373	0.0027	442	c.654 others(457): Show c.654-843_654-842insTGGGCAGCGGTGGGCACCCAGCAGCGTGGG CAGCACTGTGGGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGG CAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGGCA CCCAGCACCGTGGGCAGCACTGTGGGCAGCGGTGGGTACCCAGCACCGTG AGCAGCACTGTGGGCAGCGGTGGTTACCCAGCACCTTGGGCAGTACTGTG GGCAGCGGTGGGCACCCAGCAGCGTGGGCAGCACTGTGGGCAGCGGTGGG CACCCAGCAGCGTGGGCAGCACTGTGGGCATCGGTGGGCACCCAGCAGCG TGGGCAGCACTGGGCAGCGGTGGGTACCCAGCAGCGTGGGCAGCACTGTG GGCAGCGGTGGGCACCCAGCACCGTGGGCAGCGGTGGGCACCCAGCAGCG TGGGCAGCACTG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	4/14			chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92143382	T T	TATAATAT others(435): Show TATAATATATATATATATTATATAATATATATATAAAATATATATATTAT ATAATATATATATAAAATATATATATTATATAATATATATACTAAAATAT ATATATTATATATAAAATATATATATATTATTATAATATATATATAAAAT ATATATATATTATATATAAAATATATATATTATATAAATATATATATAAA ATATATATATTATATAATATATATATAAAAATATAATATTATATAATATA TGTAATATTATATATAATATATATATTATATATATTATATATTATATATA TTATATATATTATATATAATATATATTATATATATTATATATATTATATA ATATATATATTATATATAATATTATATAATATATATATTATATATAATAT TATATAATATATATATTATATATAATATATATAATATATATAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	190	0.0053	442	c.151 others(461): Show c.1513-3601_1513-3600insTAATATATATATATATTATATAATAT ATATATAAAATATATATATTATATAATATATATATAAAATATATATATTA TATAATATATATACTAAAATATATATATTATATATAAAATATATATATAT TATTATAATATATATATAAAATATATATATATTATATATAAAATATATAT ATTATATAAATATATATATAAAATATATATATTATATAATATATATATAA AAATATAATATTATATAATATATGTAATATTATATATAATATATATATTA TATATATTATATATTATATATATTATATATATTATATATAATATATATTA TATATATTATATATATTATATAATATATATATTATATATAATATTATATA ATATATATATTATATATAATATTATATAATATATATATTATATATAATAT ATATAATATATATAAA	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMYD3_chr1_245744347_246512279	245798398	A A	ACACACCA others(435): Show ACACACCACACATACACACACACACACATACACACACAAACACACACACA TACACACCACACACACATACCCACACACACACATACATACACACACACCA CACACCCCCACACACATACACACACACAAAAATACACATACACACAAACA CACAAATACACACATACACACAAAAATACACATACACACAAACACACAAA TACACACACAGAAATACACATACATACACACACACACCCACATACCCACA CACACATACCCACACACCCACAAACACACATACACACACACACACACAAA TACACACACATACATAACACACCCACACACATACACACACACAAACACAC AAATACACACATACACATACAAAAATACACACATACACACACAAATACAC ACATACACACACATACCCACACACACACATACACACACATACT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02809.hp1 HG02486.hp1 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0019 a0002c0003t0001g0105 a0001c0001t0001g0019 a0002c0003t0001g0105	2	150	0.0133	442	c.107 others(463): Show c.1077-34250_1077-34249insAGTATGTGTGTGTATGTGTGTGTG TGGGTATGTGTGTGTATGTGTGTATTTGTGTGTGTATGTGTGTATTTTTG TATGTGTATGTGTGTATTTGTGTGTTTGTGTGTGTGTATGTGTGTGGGTG TGTTATGTATGTGTGTGTATTTGTGTGTGTGTGTGTGTATGTGTGTTTGT GGGTGTGTGGGTATGTGTGTGTGGGTATGTGGGTGTGTGTGTGTATGTAT GTGTATTTCTGTGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGT GTGTATGTGTGTATTTGTGTGTTTGTGTGTATGTGTATTTTTGTGTGTGT GTATGTGTGTGGGGGTGTGTGGTGTGTGTGTATGTATGTGTGTGTGTGGG TATGTGTGTGTGGTGTGTATGTGTGTGTGTTTGTGTGTGTATGTGTGTGT GTGTGTATGTGTGGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SPAAR_chr9_35904490_35916686	35914337	T T	TGTGTGTG others(435): Show TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAG TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAG TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAG TGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTG TGTGTTTTTGTATTCTGTGATGTGTGTGTAAGCTGTATGTGTGTAGTGAG TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAG TGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTG TGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGTG TGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	1	420	0.0024	442	c.36 others(453): Show c.3646_*3647insGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGT TGTATGTGTGTAGTGTGTGTTTTTGTATTCTGTGATGTGTGTGTAAGCTG TATGTGTGTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAA GTTGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGT TGTATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTG TATGTGTGTAGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTA TGTGTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2652		chr9	TogoVar
SPATA13_chr13_24155720_24312069	24190020	C C	CATATAAT others(435): Show CATATAATGATATACAATATATATCATTATATAACATAATGATATATATT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACAT	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA19011.hp1 HG00140.hp2 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0097 a0001c0001t0003 a0001c0003t0097	a0001c0001t0003g0249 a0001c0003t0097g0289 a0001c0001t0003g0249 a0001c0003t0097g0289	2	356	0.0056	442	c.-11 others(463): Show c.-112+29091_-112+29092insTAATGATATACAATATATATCATT ATATAACATAATGATATATATTATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(435): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATATAACATATG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA19058.hp1 NA18952.hp2 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0052 a0001c0002 a0001c0052	a0001c0002t0009 a0001c0052t0005 a0001c0002t0009 a0001c0052t0005	a0001c0002t0009g0336 a0001c0052t0005g0095 a0001c0002t0009g0336 a0001c0052t0005g0095	2	356	0.0056	442	c.-11 others(463): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATATAACATATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(435): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAA CGGGGGAGGGGGGAGAGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGG GGAGGGGGGAGGGGGAGGGGGAAGGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGG AGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACG GGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	251	0.0040	442	c.34 others(451): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCCTTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCC TTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCTCTCCCCCC TCCCCCGTTCCCGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTT CCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCT TCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(435): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGAA CGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGA GGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGGG GGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGA GGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGA GGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACGG GGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0157	1	251	0.0040	442	c.34 others(451): Show c.349_*350insCCCCGCTTCCCCCCTCCCCCTCCCCCTCCCCATCTC CCCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCC TCCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCA TCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCC CCCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCC TTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCC TCCCCCGTTCCCGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTT CCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCT TCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(435): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGAAGCGGGGA ACGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGG AGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGG GGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGG AGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACG GGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	251	0.0040	442	c.34 others(451): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCT CCCCCGTTCCCCGCTTCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTT CCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCT TCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161029	A A	AAGGGGAA others(435): Show AAGGGGAAGGGGGAAGGGGGAGGGGGAAGGGGGAGGGGGAGGGGGAGGGG GAGGTGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGTGGGAGGGG GAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGGGAAGCGGGA ACGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGG AGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGGAGGGGAGATGGGGAGG GGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGGAAGCGGGAACGGGGG AGGGGAGATGGGGAGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGAGGGG AGGGGGGAGGGGGAAGGGGGAGGGGGGAGGGGGAAGGGGGAGGGGGAACG GGGGAGGGGAGATGGGGAGGGGGAGGGGGAGGGGGAAGCGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	251	0.0040	442	c.34 others(451): Show c.349_*350insCCCCGCTTCCCCCTCCCCCTCCCCCTCCCCATCTCC CCTCCCCCGTTCCCCCTCCCCCTTCCCCCTCCCCCCTCCCCCTTCCCCCT CCCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCTCCCCCTCCCCAT CTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTTCCCCCTCCCCCTCCC CCCTCCCCCTCCCCATCTCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCT TCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCCTCCCCCCT CCCCCGTTCCCGCTTCCCCCCTCCCCCGTTCCCGCTTCCCCCTCCCCCTT CCCCCTCCCCCTCCCACCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCACCTCCCCCTCCCCCTCCCCCTCCCCCTTCCCCCTCCCCCTTCCCCCT TCCCCT	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		130		chr21	TogoVar
SRXN1_chr20_641615_658200	642068	G G	GGGGGGGG others(435): Show GGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGAGGCCCAGCG GGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCC CAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGCCCCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0013 a0001c0001t0005g0013	1	422	0.0024	442	c.66 others(453): Show c.6645_*6646insGGCAACTCCACCCCCGCTGGGGCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCA CCCCCGCTGGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC AGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCT GGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCTCCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCAGGCAA CTCCACCCCCGCTGGGCCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4546		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(435): Show TGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGGT GGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	442	c.64 others(453): Show c.6483_*6484insCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCA GGCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGC TGGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGC AACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCG CTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(435): Show TGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	442	c.64 others(453): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCG CTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(435): Show TGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	422	0.0024	442	c.64 others(453): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACCCCACCCCCG CTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642230	T T	TGGGGGGG others(435): Show TGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGG GGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGATGGGGTTGCCTGGGGG GGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGG AGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCC AGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGC CTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGG GGGTGGAGTTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTG GGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCAGGGG TGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	422	0.0024	442	c.64 others(453): Show c.6483_*6484insCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAG GCAACTCCACCCCTGCTGGGCCCCCCCCCACAGGCAACTCCACCCCCGCT GGGCCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCCCCACCACAGGCA ACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTCC ACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCC CAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACCCCACCCCCG CTGGGCCCCCCCCCAGGCAACCCCATCCCCGCTGGGCCCCCCCCCAGGCA ACTCCACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGG CCCCCCCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4384		chr20	TogoVar
SRXN1_chr20_641615_658200	642391	G G	GGGCCCAG others(435): Show GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGT TGCCTGGGGGGGGCCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCCG CGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTG GGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGG GGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTGGA GTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCA GCGGGGGTGGAGTTGCCTGTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCC TGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0141 a0001c0001t0002g0141	1	422	0.0024	442	c.63 others(453): Show c.6322_*6323insGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCC CCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCACAGGCAACTC CACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCC CCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGC TGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGC AACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCAGGCAACT CCACCCCCGCGGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGGGGCCCC CCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCC GCTGGGCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4223		chr20	TogoVar

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