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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
CDH4_chr20_61247261_61945617	61943367	GGCACCGT others(93): Show GGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCGTC TGCACCGTGGCCGCCCCCTCTCACCGACGACGAGGAGCACTGCGACCCTC T	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01099.hp2 HG03704.hp2 HG01081.hp2 HG01099.hp2 HG03704.hp2	a0001 a0002 a0001 a0002	a0001c0021 a0002c0005 a0002c0026 a0001c0021 a0002c0005 a0002c0026	a0001c0021t0005 a0002c0005t0010 a0002c0026t0010 a0001c0021t0005 a0002c0005t0010 a0002c0026t0010	a0001c0021t0005g0047 a0002c0005t0010g0068 a0002c0026t0010g0078 a0001c0021t0005g0047 a0002c0005t0010g0068 a0002c0026t0010g0078	3	56	0.0536	-100	c.64 others(111): Show c.6425_*6524delGCACCGTGGCCGCCCCCTCTCACCGACGACGAGG AGCACTGCGACCGTCTGCACCGTGGCCGCCCCCTCTCACCGACGACGAGG AGCACTGCGACCCTCT		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					2751		chr20	TogoVar
CDH4_chr20_61247261_61945617	61944893	CTGCACCG others(93): Show CTGCACCGTGGCCGCCCCTTCTCACCGACGACGAGGAGCACTGCGACCGT CTGCACCGTGGCCGCCCCTTCTCACTGACGATGAGGAGCATTGCGACTGT A	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 NA18906.hp1 HG03195.hp1 NA18906.hp1	a0001 a0003 a0001 a0003	a0001c0012 a0003c0017 a0001c0012 a0003c0017	a0001c0012t0001 a0003c0017t0002 a0001c0012t0001 a0003c0017t0002	a0001c0012t0001g0008 a0003c0017t0002g0053 a0001c0012t0001g0008 a0003c0017t0002g0053	2	106	0.0189	-100	c.79 others(111): Show c.7951_*8050delTGCACCGTGGCCGCCCCTTCTCACCGACGACGAG GAGCACTGCGACCGTCTGCACCGTGGCCGCCCCTTCTCACTGACGATGAG GAGCATTGCGACTGTA		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					4277		chr20	TogoVar
CDH4_chr20_61247261_61945617	61945205	AGCCCCTT others(93): Show AGCCCCTTCTCACTGACAATGAGGAGCATTCAGAGTGTCTACACCGTGGC CACGCCTTCTCACCGATGCTGAGGAGCACCGAGACTGTCTGCACTGTGGC C	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0009 a0001c0007t0009	a0001c0007t0009g0017 a0001c0007t0009g0017	1	81	0.0123	-100	c.82 others(111): Show c.8263_*8362delGCCCCTTCTCACTGACAATGAGGAGCATTCAGAG TGTCTACACCGTGGCCACGCCTTCTCACCGATGCTGAGGAGCACCGAGAC TGTCTGCACTGTGGCC		CDH4	ENSG00000179242.16	transcript	ENST00000614565.5	protein_coding					4589		chr20	TogoVar
CDH7_chr18_65746012_65895337	65782028	CCCTTCCT others(93): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTTCTTTCTTTCTTT CTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCT T	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG00733.hp1 others(50): Show HG00280.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG01070.hp2 HG01074.hp2 HG01081.hp1 HG01255.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01517.hp1 HG01884.hp1 HG01981.hp2 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp2 HG02738.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG03041.hp1 HG03139.hp1 HG03453.hp1 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG06807.hp1 NA18906.hp2 NA18944.hp1 NA18952.hp1 NA18969.hp1 NA18998.hp1 NA19004.hp1 NA19012.hp2 NA19043.hp2 NA19065.hp1 NA20300.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0006 a0001c0007 others(12): Show a0001c0001 a0001c0006 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0020 a0001c0021 a0002c0002 a0002c0003 a0002c0004 a0002c0005 a0002c0016 a0002c0019 a0003c0022	a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 others(33): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0016 a0001c0001t0046 a0001c0001t0048 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0006t0002 a0001c0006t0031 a0001c0007t0011 a0001c0007t0032 a0001c0008t0011 a0001c0008t0025 a0001c0009t0038 a0001c0011t0002 a0001c0020t0002 a0001c0021t0002 a0002c0002t0003 a0002c0002t0015 a0002c0002t0021 a0002c0002t0057 a0002c0003t0013 a0002c0003t0014 a0002c0003t0023 a0002c0003t0040 a0002c0004t0003 a0002c0004t0017 a0002c0004t0024 a0002c0004t0026 a0002c0004t0045 a0002c0004t0050 a0002c0005t0022 a0002c0016t0056 a0002c0019t0035 a0003c0022t0012	a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0048 others(50): Show a0001c0001t0002g0023 a0001c0001t0002g0027 a0001c0001t0002g0048 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0059 a0001c0001t0002g0077 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0007g0040 a0001c0001t0007g0044 a0001c0001t0007g0046 a0001c0001t0016g0065 a0001c0001t0046g0018 a0001c0001t0048g0053 a0001c0001t0053g0060 a0001c0001t0054g0058 a0001c0001t0055g0057 a0001c0006t0002g0069 a0001c0006t0031g0072 a0001c0007t0011g0067 a0001c0007t0032g0066 a0001c0008t0011g0061 a0001c0008t0025g0009 a0001c0009t0038g0056 a0001c0011t0002g0006 a0001c0011t0002g0007 a0001c0020t0002g0073 a0001c0021t0002g0031 a0002c0002t0003g0014 a0002c0002t0003g0045 a0002c0002t0015g0003 a0002c0002t0015g0004 a0002c0002t0021g0107 a0002c0002t0057g0013 a0002c0003t0013g0005 a0002c0003t0013g0022 a0002c0003t0013g0049 a0002c0003t0014g0063 a0002c0003t0023g0017 a0002c0003t0023g0039 a0002c0003t0040g0062 a0002c0004t0003g0078 a0002c0004t0017g0071 a0002c0004t0024g0011 a0002c0004t0024g0012 a0002c0004t0026g0008 a0002c0004t0045g0002 a0002c0004t0050g0074 a0002c0005t0022g0030 a0002c0016t0056g0093 a0002c0019t0035g0015 a0003c0022t0012g0068	53	174	0.3046	-100	c.210 others(119): Show c.210+18977_210+19076delCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTTCTTTCTTTCTTTCTTTCCTTCCTTCCTTCCTTCCTTCCT TCCTTCTTTCTTTCTTTCTTTCTT		CDH7	ENSG00000081138.14	transcript	ENST00000397968.4	protein_coding	2/11						chr18	TogoVar
CFAP221_chr2_119539449_119661661	119552397	ATTTCTTT others(93): Show ATTTCTTTCTTTAATAAGAAATAAATAGAAATATTTCTTTCTTTAATAAG AAATAAATAGAAATATTTCTTTCTTTAATAAGAAATAAATAGAAATATTT C	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02109.hp1 HG02451.hp2 others(2): Show HG00735.hp1 HG02109.hp1 HG02451.hp2 HG03225.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 others(2): Show a0002c0002t0002g0156 a0002c0002t0002g0157 a0002c0002t0002g0158 a0002c0002t0003g0155 a0002c0002t0003g0159	5	222	0.0225	-100	c.240 others(117): Show c.240+3220_240+3319delCTTTAATAAGAAATAAATAGAAATATTT CTTTCTTTAATAAGAAATAAATAGAAATATTTCTTTCTTTAATAAGAAAT AAATAGAAATATTTCTTTCTTT		CFAP221	ENSG00000163075.13	transcript	ENST00000413369.8	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr2	TogoVar
CFAP54_chr12_96484577_96880555	96664689	GTATATAT others(93): Show GTATATATCTATATATATATATATATCTATATATATCTATATATATATAT CTATATATATATATATCTATATATATCTATATCTATATCTATATATATAT A	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02109.hp1 HG02258.hp1 others(7): Show HG00544.hp1 HG02109.hp1 HG02258.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp2 HG03516.hp2 NA18612.hp2 NA18984.hp1 NA19074.hp2	a0002 a0018 a0022 others(2): Show a0002 a0018 a0022 a0023 a0058	a0002c0003 a0018c0068 a0022c0025 others(2): Show a0002c0003 a0018c0068 a0022c0025 a0023c0026 a0058c0092	a0002c0003t0001 a0002c0003t0002 a0018c0068t0001 others(3): Show a0002c0003t0001 a0002c0003t0002 a0018c0068t0001 a0022c0025t0001 a0023c0026t0001 a0058c0092t0001	a0002c0003t0001g0127 a0002c0003t0001g0177 a0002c0003t0002g0171 others(7): Show a0002c0003t0001g0127 a0002c0003t0001g0177 a0002c0003t0002g0171 a0002c0003t0002g0173 a0002c0003t0002g0174 a0018c0068t0001g0241 a0022c0025t0001g0002 a0022c0025t0001g0003 a0023c0026t0001g0090 a0058c0092t0001g0160	10	164	0.0610	-100	c.556 others(117): Show c.5563+765_5563+864delCTATATATATATATATATCTATATATAT CTATATATATATATCTATATATATATATATCTATATATATCTATATCTAT ATCTATATATATATATATATAT		CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	39/67					INFO_REALIGN_3_PRIME	chr12	TogoVar
CHRFAM7A_chr15_30355566_30398540	30375863	TGTGAGTG others(93): Show TGTGAGTGGTGTGTGTGTTGAGTCGTGTGGGTGGTATGTGAGTGGTTGTG TGAGTGGTGTGTGTGTTGAGTCGTGTGGGTGGTATGTGAGTGGTTGTGTG A	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0003 a0005c0005t0005g0003	1	132	0.0076	-100	c.160 others(117): Show c.160+1067_160+1166delTCACACAACCACTCACATACCACCCACA CGACTCAACACACACACCACTCACACAACCACTCACATACCACCCACACG ACTCAACACACACACCACTCAC		CHRFAM7A	ENSG00000166664.15	transcript	ENST00000299847.7	protein_coding	5/9						chr15	TogoVar
CHRNA4_chr20_63338223_63366349	63366131	AGCTCCCT others(93): Show AGCTCCCTGCCCTCTCCTGGTGCTCCCTGCCCTCTCCTAGTGCTCCCTGC CCTCTCCTGGTGCTCCCTGCCCTCTCCTAGTGCTCCCTGCCCTCTCCTAG T	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG03041.hp2 HG01081.hp2 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0032 a0001c0002t0001 a0001c0002t0032	a0001c0002t0001g0094 a0001c0002t0032g0138 a0001c0002t0001g0094 a0001c0002t0032g0138	2	157	0.0127	-100	c.-50 others(111): Show c.-5066_-4967delACTAGGAGAGGGCAGGGAGCACTAGGAGAGGGCA GGGAGCACCAGGAGAGGGCAGGGAGCACTAGGAGAGGGCAGGGAGCACCA GGAGAGGGCAGGGAGC		CHRNA4	ENSG00000101204.18	transcript	ENST00000370263.9	protein_coding					4783		chr20	TogoVar
CHST8_chr19_33616953_33778506	33757387	GAAGAAAG others(93): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG A	G G	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	179	0.0056	-100	c.131 others(119): Show c.131-13989_131-13890delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757438	GAAAGAAA others(93): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGA A	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	242	0.0041	-100	c.131 others(119): Show c.131-13973_131-13874delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAGAAAGAAAGAAAGAAA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CHST8_chr19_33616953_33778506	33757442	GAAAGAAA others(93): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGAAAGAAAGAAAGAAAGA A	G G	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0207 a0001c0002t0001g0207	1	239	0.0042	-100	c.131 others(119): Show c.131-13969_131-13870delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAGAAAGAAAGAAAGAAAGAAA		CHST8	ENSG00000124302.13	transcript	ENST00000650847.1	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
CLCN7_chr16_1439935_1480028	1457328	TCGGCCCT others(93): Show TCGGCCCTTCCTGGAGACCAGAAGGACCGGTGCTCAGAGACACGCGTGAC GCGGCCCTTCCTGGAGACCAGAAGGACCGATGCTCAGAGACACGCGTGAC G	T T	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	HG01993.hp1 HG01993.hp1	a0003 a0003	a0003c0023 a0003c0023	a0003c0023t0002 a0003c0023t0002	a0003c0023t0002g0322 a0003c0023t0002g0322	1	396	0.0025	-100	c.739 others(110): Show c.739-91_747delCGTCACGCGTGTCTCTGAGCATCGGTCCTTCTGGT CTCCAGGAAGGGCCGCGTCACGCGTGTCTCTGAGCACCGGTCCTTCTGGT CTCCAGGAAGGGCCG	p.Glu others(13): Show p.Glu247_Met250del	CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	9/25	801/4168	739/2418	247/805			chr16	TogoVar
CLCN7_chr16_1439935_1480028	1457357	GTGCTCAG others(93): Show GTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG ATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG A	G G	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19030.hp2 NA20129.hp1 others(1): Show HG02559.hp2 NA19030.hp2 NA20129.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0035 a0001c0003t0002 a0001c0001t0001 a0001c0001t0035 a0001c0003t0002	a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0035g0035 others(1): Show a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0035g0035 a0001c0003t0002g0326	4	382	0.0105	-100	c.739 others(114): Show c.739-120_739-21delTCGGTCCTTCTGGTCTCCAGGAAGGGCCGCG TCACGCGTGTCTCTGAGCATCGGTCCTTCTGGTCTCCAGGAAGGGCCGCG TCACGCGTGTCTCTGAGCA		CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	8/24						chr16	TogoVar
CLCN7_chr16_1439935_1480028	1457407	ATGCTCAG others(93): Show ATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG ATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG G	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp2 others(32): Show HG00099.hp1 HG00140.hp1 HG00323.hp2 HG00733.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG02004.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02300.hp2 HG02615.hp1 HG02683.hp1 HG03017.hp2 HG04115.hp1 HG04228.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0017 a0001c0002 a0001c0003 a0001c0017	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0011 a0001c0003t0022 a0001c0003t0047 a0001c0017t0041	a0001c0002t0001g0008 a0001c0002t0001g0149 a0001c0002t0002g0150 others(31): Show a0001c0002t0001g0008 a0001c0002t0001g0149 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0247 a0001c0002t0003g0043 a0001c0003t0001g0320 a0001c0003t0001g0323 a0001c0003t0001g0363 a0001c0003t0002g0287 a0001c0003t0002g0291 a0001c0003t0002g0292 a0001c0003t0002g0293 a0001c0003t0002g0294 a0001c0003t0002g0304 a0001c0003t0002g0311 a0001c0003t0002g0312 a0001c0003t0002g0313 a0001c0003t0002g0317 a0001c0003t0002g0327 a0001c0003t0002g0329 a0001c0003t0002g0330 a0001c0003t0002g0332 a0001c0003t0002g0333 a0001c0003t0002g0368 a0001c0003t0002g0385 a0001c0003t0005g0316 a0001c0003t0005g0377 a0001c0003t0011g0321 a0001c0003t0011g0324 a0001c0003t0022g0290 a0001c0003t0022g0319 a0001c0003t0047g0318 a0001c0017t0041g0162	35	400	0.0875	-100	c.739 others(114): Show c.739-170_739-71delCCGGTCCTTCTGGTCTCCAGGAAGGGCCGCG TCACGCGTGTCTCTGAGCATCGGTCCTTCTGGTCTCCAGGAAGGGCCGCG TCACGCGTGTCTCTGAGCA		CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	8/24						chr16	TogoVar
CLCN7_chr16_1439935_1480028	1457457	ATGCTCAG others(93): Show ATGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG GTGCTCAGAGACACGCGTGACGCGGCCCTTCCTGGAGACCAGAAGGACCG G	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01099.hp1 HG01257.hp2 others(7): Show HG00642.hp2 HG01099.hp1 HG01257.hp2 HG01258.hp2 HG01516.hp1 HG01981.hp2 HG03195.hp2 NA18522.hp1 NA19068.hp2 NA20300.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0006 a0001c0001 a0001c0003 a0002c0006	a0001c0001t0001 a0001c0003t0003 a0002c0006t0010 others(1): Show a0001c0001t0001 a0001c0003t0003 a0002c0006t0010 a0002c0006t0026	a0001c0001t0001g0246 a0001c0003t0003g0015 a0002c0006t0010g0011 others(5): Show a0001c0001t0001g0246 a0001c0003t0003g0015 a0002c0006t0010g0011 a0002c0006t0010g0254 a0002c0006t0010g0255 a0002c0006t0010g0256 a0002c0006t0026g0260 a0002c0006t0026g0261	10	352	0.0284	-100	c.738 others(115): Show c.738+137_739-121delCCGGTCCTTCTGGTCTCCAGGAAGGGCCGC GTCACGCGTGTCTCTGAGCACCGGTCCTTCTGGTCTCCAGGAAGGGCCGC GTCACGCGTGTCTCTGAGCA		CLCN7	ENSG00000103249.19	transcript	ENST00000382745.9	protein_coding	8/24						chr16	TogoVar
CLPX_chr15_65143219_65190342	65146004	TATAAATA others(93): Show TATAAATATATATATAAATATATATATAAATATATATATAAATATATATA TAAATATATATATAAATATATATATAAATATATATATAAATATATATATA A	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02896.hp1 others(1): Show HG02886.hp2 HG02895.hp2 HG02896.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0168 a0001c0001t0008g0013 a0001c0001t0008g0014 others(1): Show a0001c0001t0001g0168 a0001c0001t0008g0013 a0001c0001t0008g0014 a0001c0001t0008g0015	4	184	0.0217	-100	c.47 others(111): Show c.4719_*4818delTTATATATATATTTATATATATATTTATATATAT ATTTATATATATATTTATATATATATTTATATATATATTTATATATATAT TTATATATATATTTAT		CLPX	ENSG00000166855.9	transcript	ENST00000300107.7	protein_coding					2214		chr15	TogoVar
CMIP_chr16_81439808_81716762	81704359	CCCTTACT others(93): Show CCCTTACTCTCCTCCCTGCCCCTTCACCCTCCTCCCTGCTCCCCTCACCC TCTTCCCTGCCCCCTCCCCCTCCTCCCTGCCCCCTCCCCCTCCCCTACCC A	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0013 a0001c0008t0013	a0001c0008t0013g0177 a0001c0008t0013g0177	1	266	0.0038	-100	c.209 others(117): Show c.2091+276_2091+375delCTTACTCTCCTCCCTGCCCCTTCACCCT CCTCCCTGCTCCCCTCACCCTCTTCCCTGCCCCCTCCCCCTCCTCCCTGC CCCCTCCCCCTCCCCTACCCAC		CMIP	ENSG00000153815.18	transcript	ENST00000537098.8	protein_coding	18/20					INFO_REALIGN_3_PRIME	chr16	TogoVar
CNTNAP4_chr16_76272401_76565757	76514663	TATCTCCA others(93): Show TATCTCCAGCCAGATTTTATTTTCTTCATTTTTATTTTGCTTATATTGAT TCCTATTGAGGTTAATAAATAGTTGAAAACAATAATAGATGTGCTAAAAA G	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00423.hp2 HG00609.hp1 others(33): Show HG00099.hp1 HG00423.hp2 HG00609.hp1 HG00639.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG01069.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01258.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp2 HG02258.hp2 HG03017.hp2 HG04184.hp1 NA18943.hp1 NA18962.hp1 NA18970.hp1 NA18970.hp2 NA18979.hp1 NA18979.hp2 NA18994.hp2 NA19009.hp1 NA19077.hp2 NA19080.hp2 NA19085.hp1 NA19091.hp2 NA20300.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0001c0019 others(5): Show a0001c0001 a0001c0004 a0001c0019 a0002c0002 a0002c0005 a0002c0011 a0002c0021 a0005c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 others(11): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0017 a0001c0004t0001 a0001c0004t0003 a0001c0019t0001 a0002c0002t0002 a0002c0002t0004 a0002c0005t0002 a0002c0005t0004 a0002c0011t0004 a0002c0011t0005 a0002c0021t0004 a0005c0008t0001	a0001c0001t0001g0026 a0001c0001t0001g0105 a0001c0001t0001g0217 others(33): Show a0001c0001t0001g0026 a0001c0001t0001g0105 a0001c0001t0001g0217 a0001c0001t0003g0016 a0001c0001t0003g0111 a0001c0001t0003g0116 a0001c0001t0003g0184 a0001c0001t0003g0197 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0229 a0001c0001t0003g0233 a0001c0001t0003g0236 a0001c0001t0003g0256 a0001c0001t0017g0034 a0001c0004t0001g0030 a0001c0004t0001g0155 a0001c0004t0003g0156 a0001c0019t0001g0198 a0002c0002t0002g0039 a0002c0002t0002g0043 a0002c0002t0002g0102 a0002c0002t0002g0224 a0002c0002t0004g0079 a0002c0002t0004g0129 a0002c0002t0004g0138 a0002c0005t0002g0080 a0002c0005t0002g0187 a0002c0005t0002g0188 a0002c0005t0004g0132 a0002c0011t0004g0078 a0002c0011t0005g0139 a0002c0011t0005g0144 a0002c0021t0004g0162 a0005c0008t0001g0091 a0005c0008t0001g0220	36	272	0.1324	-100	c.236 others(119): Show c.2366-6475_2366-6376delTCTCCAGCCAGATTTTATTTTCTTCA TTTTTATTTTGCTTATATTGATTCCTATTGAGGTTAATAAATAGTTGAAA ACAATAATAGATGTGCTAAAAAGA		CNTNAP4	ENSG00000152910.19	transcript	ENST00000611870.5	protein_coding	15/23					INFO_REALIGN_3_PRIME	chr16	TogoVar
COL18A1_chr21_45400165_45518720	45437524	TCAGACAC others(93): Show TCAGACACACAGGCACTCTCCTGCACACACACACACACAGACACAGGCAC TCTCCTGTACACACACACACTCACACACTCAGACACACAGGCACTCTCCT G	T T	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01496.hp1 HG02451.hp1 others(5): Show HG01261.hp2 HG01496.hp1 HG02451.hp1 HG02486.hp1 HG02615.hp2 HG03225.hp2 HG06807.hp1 NA19240.hp1	a0001 a0003 a0017 a0001 a0003 a0017	a0001c0001 a0001c0003 a0001c0060 others(2): Show a0001c0001 a0001c0003 a0001c0060 a0003c0088 a0017c0089	a0001c0001t0001 a0001c0003t0001 a0001c0003t0016 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0016 a0001c0060t0001 a0003c0088t0001 a0017c0089t0011	a0001c0001t0001g0136 a0001c0003t0001g0041 a0001c0003t0001g0179 others(5): Show a0001c0001t0001g0136 a0001c0003t0001g0041 a0001c0003t0001g0179 a0001c0003t0001g0192 a0001c0003t0016g0185 a0001c0060t0001g0142 a0003c0088t0001g0024 a0017c0089t0011g0193	8	212	0.0377	-100	c.107 others(119): Show c.107-30715_107-30616delGACACACAGGCACTCTCCTGCACACA CACACACACAGACACAGGCACTCTCCTGTACACACACACACTCACACACT CAGACACACAGGCACTCTCCTGCA		COL18A1	ENSG00000182871.16	transcript	ENST00000651438.1	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr21	TogoVar
COL4A1_chr13_110143963_110312157	110253264	TATATACA others(93): Show TATATACATATAATTATATGTATTACATATACATATAATTATATGTATTA CATATACATATAATTATATGTATTACATATACATATAATTATATGTATTA C	T T	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0198 a0002c0002t0001g0198	1	277	0.0036	-100	c.85- others(117): Show c.85-10630_85-10531delGTAATACATATAATTATATGTATATGTA ATACATATAATTATATGTATATGTAATACATATAATTATATGTATATGTA ATACATATAATTATATGTATAT		COL4A1	ENSG00000187498.16	transcript	ENST00000375820.10	protein_coding	1/51						chr13	TogoVar
COL5A3_chr19_9954561_10015504	9971806	GTGAAATC others(93): Show GTGAAATCAACTTTCTTGCCATTCAATGATGTATAACCACTGCACGTTTA TGTTTCATTCACACATTTACTCACTAATTCAAGTGTTAGAATGATCTGCC A	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp2 HG00597.hp1 others(89): Show HG00323.hp1 HG00544.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01255.hp2 HG01256.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02080.hp1 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02165.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp2 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03225.hp2 HG03239.hp2 HG03490.hp2 HG03516.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp2 HG03831.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp2 NA18966.hp1 NA18973.hp2 NA18975.hp2 NA18978.hp1 NA18978.hp2 NA18982.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19003.hp2 NA19009.hp2 NA19054.hp1 NA19056.hp1 NA19057.hp1 NA19065.hp1 NA19067.hp1 NA19080.hp2 NA19084.hp1 NA19090.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20805.hp2 NA21309.hp1	a0003 a0007 a0011 others(19): Show a0003 a0007 a0011 a0012 a0014 a0015 a0017 a0019 a0021 a0022 a0025 a0032 a0034 a0036 a0037 a0044 a0050 a0052 a0059 a0062 a0069 a0070	a0003c0009 a0003c0011 a0003c0125 others(30): Show a0003c0009 a0003c0011 a0003c0125 a0003c0136 a0007c0014 a0007c0082 a0011c0006 a0012c0017 a0012c0025 a0012c0077 a0012c0087 a0014c0008 a0015c0065 a0017c0018 a0019c0035 a0019c0097 a0021c0030 a0022c0027 a0025c0038 a0025c0066 a0032c0088 a0032c0124 a0034c0043 a0036c0042 a0037c0073 a0037c0102 a0044c0093 a0050c0103 a0052c0076 a0059c0100 a0062c0095 a0069c0079 a0070c0062	a0003c0009t0003 a0003c0011t0003 a0003c0011t0006 others(42): Show a0003c0009t0003 a0003c0011t0003 a0003c0011t0006 a0003c0011t0009 a0003c0125t0003 a0003c0136t0009 a0007c0014t0001 a0007c0082t0007 a0011c0006t0003 a0011c0006t0006 a0011c0006t0009 a0011c0006t0016 a0011c0006t0018 a0012c0017t0001 a0012c0017t0002 a0012c0025t0001 a0012c0025t0002 a0012c0025t0003 a0012c0077t0001 a0012c0087t0001 a0014c0008t0001 a0015c0065t0001 a0017c0018t0003 a0017c0018t0006 a0017c0018t0009 a0019c0035t0002 a0019c0097t0002 a0021c0030t0002 a0022c0027t0002 a0025c0038t0001 a0025c0066t0003 a0032c0088t0002 a0032c0124t0001 a0034c0043t0006 a0034c0043t0007 a0036c0042t0001 a0037c0073t0006 a0037c0102t0003 a0044c0093t0001 a0050c0103t0003 a0052c0076t0007 a0059c0100t0001 a0062c0095t0002 a0069c0079t0003 a0070c0062t0003	a0003c0009t0003g0079 a0003c0009t0003g0295 a0003c0009t0003g0311 others(88): Show a0003c0009t0003g0079 a0003c0009t0003g0295 a0003c0009t0003g0311 a0003c0009t0003g0326 a0003c0009t0003g0327 a0003c0009t0003g0337 a0003c0009t0003g0369 a0003c0009t0003g0375 a0003c0009t0003g0390 a0003c0011t0003g0059 a0003c0011t0003g0259 a0003c0011t0003g0271 a0003c0011t0006g0260 a0003c0011t0006g0276 a0003c0011t0006g0310 a0003c0011t0009g0401 a0003c0011t0009g0402 a0003c0125t0003g0362 a0003c0136t0009g0064 a0007c0014t0001g0110 a0007c0014t0001g0380 a0007c0014t0001g0384 a0007c0014t0001g0385 a0007c0014t0001g0391 a0007c0014t0001g0392 a0007c0082t0007g0182 a0011c0006t0003g0195 a0011c0006t0003g0196 a0011c0006t0003g0211 a0011c0006t0003g0213 a0011c0006t0003g0216 a0011c0006t0006g0204 a0011c0006t0006g0214 a0011c0006t0006g0222 a0011c0006t0009g0207 a0011c0006t0016g0191 a0011c0006t0018g0058 a0012c0017t0001g0270 a0012c0017t0001g0272 a0012c0017t0001g0273 a0012c0017t0001g0275 a0012c0017t0002g0274 a0012c0025t0001g0138 a0012c0025t0001g0325 a0012c0025t0002g0351 a0012c0025t0003g0294 a0012c0077t0001g0169 a0012c0087t0001g0053 a0014c0008t0001g0044 a0014c0008t0001g0045 a0014c0008t0001g0046 a0014c0008t0001g0047 a0014c0008t0001g0048 a0014c0008t0001g0049 a0014c0008t0001g0050 a0014c0008t0001g0051 a0014c0008t0001g0052 a0014c0008t0001g0400 a0015c0065t0001g0242 a0017c0018t0003g0018 a0017c0018t0003g0019 a0017c0018t0006g0017 a0017c0018t0009g0031 a0017c0018t0009g0032 a0019c0035t0002g0004 a0019c0035t0002g0303 a0019c0097t0002g0038 a0021c0030t0002g0224 a0021c0030t0002g0229 a0021c0030t0002g0230 a0022c0027t0002g0199 a0022c0027t0002g0227 a0022c0027t0002g0228 a0025c0038t0001g0219 a0025c0038t0001g0223 a0025c0066t0003g0231 a0032c0088t0002g0153 a0032c0124t0001g0280 a0034c0043t0006g0056 a0034c0043t0007g0055 a0036c0042t0001g0180 a0036c0042t0001g0183 a0037c0073t0006g0175 a0037c0102t0003g0112 a0044c0093t0001g0405 a0050c0103t0003g0399 a0052c0076t0007g0057 a0059c0100t0001g0040 a0062c0095t0002g0037 a0069c0079t0003g0306 a0070c0062t0003g0218	92	410	0.2244	-100	c.377 others(117): Show c.3775-648_3775-549delTGGCAGATCATTCTAACACTTGAATTAG TGAGTAAATGTGTGAATGAAACATAAACGTGCAGTGGTTATACATCATTG AATGGCAAGAAAGTTGATTTCA		COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	51/66						chr19	TogoVar
COL6A2_chr21_46093112_46137848	46135443	CTCATGGT others(93): Show CTCATGGTCCTAACACCAATGTCCCCTCATGGTCCCAACACCAGTGTCCC CTCACAAATGTCCCCTTCATTGTCCCAACACCAATGTCCCCACACAAATG T	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0002 a0001c0024t0002	a0001c0024t0002g0005 a0001c0024t0002g0005	1	362	0.0028	-100	c.28 others(111): Show c.2892_*2991delTCATGGTCCTAACACCAATGTCCCCTCATGGTCC CAACACCAGTGTCCCCTCACAAATGTCCCCTTCATTGTCCCAACACCAAT GTCCCCACACAAATGT		COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding					2596		chr21	TogoVar
COMMD10_chr5_116080025_116298287	116158280	GTCTCCCC others(93): Show GTCTCCCCTCTCCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTC TCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCC C	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02976.hp2 HG03195.hp2 HG02886.hp1 HG02976.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079	3	315	0.0095	-100	c.510 others(119): Show c.510+24114_510+24213delCTCCCCTCTCTCCCTCTCCCCTCTCT CCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTCTCCCCTCTCTCCCTC TCCCCTCTCTCCCTCTCCCCTCTC		COMMD10	ENSG00000145781.9	transcript	ENST00000274458.9	protein_coding	5/6					INFO_REALIGN_3_PRIME	chr5	TogoVar
CPSF2_chr14_92116969_92177145	92173319	ACATATAT others(93): Show ACATATATATATACGTATATATATATGTATATATATATACGTATATATAT ATGTATATATATACGTATATATATATATACACATATGTATATATATATAT G	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG03704.hp2 NA18612.hp1 others(8): Show HG00408.hp2 HG03704.hp2 NA18612.hp1 NA18945.hp1 NA18964.hp2 NA18971.hp1 NA18997.hp1 NA19001.hp2 NA19054.hp2 NA19058.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0021 a0001c0001t0031 a0001c0001t0032 others(7): Show a0001c0001t0021 a0001c0001t0031 a0001c0001t0032 a0001c0001t0058 a0001c0001t0062 a0001c0001t0063 a0001c0001t0066 a0001c0001t0067 a0001c0001t0071 a0001c0003t0037	a0001c0001t0021g0121 a0001c0001t0031g0004 a0001c0001t0032g0035 others(7): Show a0001c0001t0021g0121 a0001c0001t0031g0004 a0001c0001t0032g0035 a0001c0001t0058g0004 a0001c0001t0062g0120 a0001c0001t0063g0113 a0001c0001t0066g0110 a0001c0001t0067g0114 a0001c0001t0071g0004 a0001c0003t0037g0004	11	380	0.0289	-100	c.11 others(113): Show c.11576_*11675delCATATATATATACGTATATATATATGTATATA TATATACGTATATATATATGTATATATATACGTATATATATATATACACA TATGTATATATATATATG		CPSF2	ENSG00000165934.13	transcript	ENST00000298875.9	protein_coding					1175		chr14	TogoVar
CRLF2_chrX_1185490_1217649	1211249	ATGGATGG others(93): Show ATGGATGGGTGGATGGATGGATGGATGGATGGATGGATGGATAAGTGGAT AAAAGTGTGGGTGAATGCATGGATAGATGGATGTATTGGTGGGTGGATGG G	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	165	0.0061	-100	c.79+ others(115): Show c.79+1207_79+1306delCCCATCCACCCACCAATACATCCATCTATC CATGCATTCACCCACACTTTTATCCACTTATCCATCCATCCATCCATCCA TCCATCCATCCACCCATCCA		CRLF2	ENSG00000205755.13	transcript	ENST00000400841.8	protein_coding	1/7						chrX	TogoVar
CRNKL1_chr20_20029368_20057466	20041694	AATTTTAC others(93): Show AATTTTACTGATATTGGTAAAAATGTACACCCCCAAAACAGCATGTTTCA CAAGTTGTTACTTGCAAACCCTGATTTATGATCTAAAGTATGAACGGCCA T	A A	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0070 a0006c0006t0001g0070	1	426	0.0023	-100	c.116 others(116): Show c.1165-169_1165-70delATGGCCGTTCATACTTTAGATCATAAATC AGGGTTTGCAAGTAACAACTTGTGAAACATGCTGTTTTGGGGGTGTACAT TTTTACCAATATCAGTAAAAT		CRNKL1	ENSG00000101343.15	transcript	ENST00000536226.2	protein_coding	8/13						chr20	TogoVar
CROCC2_chr2_240901336_240998311	240907944	GGGTGACC others(93): Show GGGTGACCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTG GGGTGAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTC A	G G	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02683.hp2 HG02738.hp2 others(2): Show HG00735.hp2 HG02683.hp2 HG02738.hp2 HG03017.hp2 HG03491.hp1	a0001 a0002 a0037 others(1): Show a0001 a0002 a0037 a0040	a0001c0001 a0002c0002 a0002c0012 others(2): Show a0001c0001 a0002c0002 a0002c0012 a0037c0078 a0040c0065	a0001c0001t0004 a0002c0002t0002 a0002c0012t0002 others(2): Show a0001c0001t0004 a0002c0002t0002 a0002c0012t0002 a0037c0078t0004 a0040c0065t0002	a0001c0001t0004g0346 a0002c0002t0002g0238 a0002c0012t0002g0347 others(2): Show a0001c0001t0004g0346 a0002c0002t0002g0238 a0002c0012t0002g0347 a0037c0078t0004g0252 a0040c0065t0002g0253	5	348	0.0144	-100	c.78+ others(115): Show c.78+1377_78+1476delCGGGTGACCTCTACCTCCTCCACCTGGGGT GAGCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTCAGGT GACCTCTACCTCCTCCACCT		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CROCC2_chr2_240901336_240998311	240908875	GCTCTACC others(93): Show GCTCTACCTCCTCCACCTCGGGTGACCTCTACCTCCTCCACCTGGGGTGA GCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGTGA C	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(75): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01081.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG02004.hp2 HG02056.hp1 HG02071.hp2 HG02300.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02735.hp2 HG02738.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03710.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18945.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18963.hp1 NA18968.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18981.hp1 NA18981.hp2 NA18994.hp1 NA19012.hp1 NA19056.hp2 NA19067.hp2 NA19070.hp2 NA19080.hp2 NA19088.hp1 NA20805.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0005 a0008 a0009 a0011 a0016 a0017 a0018 a0019 a0024 a0029 a0037 a0040 a0053 a0059	a0001c0001 a0001c0022 a0001c0067 others(21): Show a0001c0001 a0001c0022 a0001c0067 a0002c0002 a0002c0011 a0002c0012 a0002c0033 a0003c0003 a0005c0005 a0008c0008 a0009c0009 a0011c0042 a0011c0044 a0011c0045 a0016c0061 a0017c0063 a0018c0016 a0019c0017 a0024c0057 a0029c0072 a0037c0078 a0040c0065 a0053c0058 a0059c0095	a0001c0001t0002 a0001c0001t0004 a0001c0022t0002 others(22): Show a0001c0001t0002 a0001c0001t0004 a0001c0022t0002 a0001c0067t0002 a0002c0002t0002 a0002c0011t0002 a0002c0012t0002 a0002c0033t0002 a0003c0003t0002 a0005c0005t0002 a0008c0008t0002 a0009c0009t0002 a0011c0042t0002 a0011c0044t0002 a0011c0045t0002 a0016c0061t0002 a0017c0063t0004 a0018c0016t0002 a0019c0017t0002 a0024c0057t0002 a0029c0072t0002 a0037c0078t0004 a0040c0065t0002 a0053c0058t0002 a0059c0095t0002	a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 others(75): Show a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0280 a0001c0001t0002g0293 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0004g0277 a0001c0001t0004g0289 a0001c0001t0004g0307 a0001c0001t0004g0314 a0001c0001t0004g0346 a0001c0022t0002g0318 a0001c0067t0002g0278 a0002c0002t0002g0238 a0002c0002t0002g0244 a0002c0002t0002g0246 a0002c0002t0002g0255 a0002c0002t0002g0261 a0002c0002t0002g0263 a0002c0002t0002g0288 a0002c0002t0002g0290 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0308 a0002c0002t0002g0320 a0002c0002t0002g0323 a0002c0002t0002g0328 a0002c0002t0002g0329 a0002c0002t0002g0331 a0002c0002t0002g0333 a0002c0011t0002g0287 a0002c0011t0002g0305 a0002c0011t0002g0319 a0002c0011t0002g0332 a0002c0011t0002g0337 a0002c0012t0002g0257 a0002c0012t0002g0284 a0002c0012t0002g0285 a0002c0012t0002g0286 a0002c0012t0002g0347 a0002c0033t0002g0283 a0003c0003t0002g0281 a0005c0005t0002g0316 a0008c0008t0002g0247 a0008c0008t0002g0260 a0008c0008t0002g0264 a0008c0008t0002g0267 a0008c0008t0002g0269 a0008c0008t0002g0276 a0008c0008t0002g0302 a0008c0008t0002g0303 a0008c0008t0002g0304 a0008c0008t0002g0330 a0008c0008t0002g0339 a0009c0009t0002g0002 a0009c0009t0002g0282 a0011c0042t0002g0268 a0011c0044t0002g0301 a0011c0045t0002g0315 a0016c0061t0002g0294 a0017c0063t0004g0297 a0018c0016t0002g0245 a0019c0017t0002g0243 a0019c0017t0002g0344 a0024c0057t0002g0338 a0029c0072t0002g0242 a0037c0078t0004g0252 a0040c0065t0002g0253 a0053c0058t0002g0296 a0059c0095t0002g0306	78	348	0.2241	-100	c.78+ others(115): Show c.78+2377_78+2476delGGGGTGACCTCTACCTCCTCCACCTCGGGT GACCTCTACCTCCTCCACCTGGGGTGAGCTCTACCTCCTCCACCTGGGGT GAGCTCTACCTCCTCCACCT		CROCC2	ENSG00000226321.6	transcript	ENST00000690015.1	protein_coding	1/31					INFO_REALIGN_3_PRIME	chr2	TogoVar
CSMD1_chr8_2930361_4999914	3795709	CAAGTACA others(93): Show CAAGTACAGCTATAGATATCTATCATGTACAGCTATAGATACCTATCATG TACAGCTATAGATACCTATCATGTACAGATATAGATATATACCTATCATG T	C C	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0002 a0002	a0002c0075 a0002c0075	a0002c0075t0028 a0002c0075t0028	a0002c0075t0028g0051 a0002c0075t0028g0051	1	98	0.0102	-100	c.819 others(119): Show c.819-41767_819-41668delACATGATAGGTATATATCTATATCTG TACATGATAGGTATCTATAGCTGTACATGATAGGTATCTATAGCTGTACA TGATAGATATCTATAGCTGTACTT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69						chr8	TogoVar
CSMD1_chr8_2930361_4999914	4486130	TATATATA others(93): Show TATATATACATACATATATATATATATACATACATATATATATATACATA CATATATATATATATATATACATACATATATATATATATATATATACATA C	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0025 a0025	a0025c0066 a0025c0066	a0025c0066t0010 a0025c0066t0010	a0025c0066t0010g0032 a0025c0066t0010g0032	1	125	0.0080	-100	c.303 others(119): Show c.303-66165_303-66066delGTATGTATATATATATATATATATAT GTATGTATATATATATATATATATGTATGTATATATATATATGTATGTAT ATATATATATATGTATGTATATAT		CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	2/69						chr8	TogoVar
CYLC2_chr9_102990333_103023488	103015078	AATATACA others(93): Show AATATACATAACATGTATATCACGTGATATACATAACATGTATATCACGT GATATACATAACATGTATATCACGTGATATACATAACATGTATATCACGT G	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01109.hp2 HG02976.hp1 others(7): Show HG00323.hp1 HG01109.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp2 NA18955.hp2 NA19006.hp1 NA19075.hp2 NA19084.hp1 NA19085.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(4): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0002c0002t0010 a0003c0003t0034 a0003c0003t0043 a0003c0003t0044	a0001c0001t0004g0183 a0001c0001t0005g0020 a0001c0001t0009g0020 others(5): Show a0001c0001t0004g0183 a0001c0001t0005g0020 a0001c0001t0009g0020 a0002c0002t0010g0222 a0003c0003t0034g0169 a0003c0003t0034g0170 a0003c0003t0043g0167 a0003c0003t0044g0168	10	21	0.4762	-100	c.81 others(119): Show c.817-1774_*817-1675delCATGTATATCACGTGATATACATAAC ATGTATATCACGTGATATACATAACATGTATATCACGTGATATACATAAC ATGTATATCACGTGATATACATAA		CYLC2	ENSG00000155833.15	transcript	ENST00000374798.8	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr9	TogoVar
CYP4F11_chr19_15907377_15939529	15931601	TGAGGAGA others(93): Show TGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGG AATGAGTGAGCGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG C	T T	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0020 a0002c0020	a0002c0020t0021 a0002c0020t0021	a0002c0020t0021g0279 a0002c0020t0021g0279	1	235	0.0043	-100	c.199 others(117): Show c.199-2100_199-2001delGCTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCTCGCTCACTCATTCCTCTCCTCGCTCACTCATTCCTCTCC TCGCTCACTCATTCCTCTCCTC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932009	GGAATGAG others(93): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA A	G G	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03453.hp1 HG00140.hp1 HG03453.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0135 a0002c0001t0153 a0002c0001t0135 a0002c0001t0153	a0002c0001t0135g0372 a0002c0001t0153g0377 a0002c0001t0135g0372 a0002c0001t0153g0377	2	360	0.0056	-100	c.198 others(117): Show c.198+2102_198+2201delTTCTCCTCACTCACTCATTCCTCTCCTC ACTCACTCATTCTTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCAT TCTTCTCCTCACTCACTCATTC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932049	GGAATGAG others(93): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA A	G G	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0120 a0001c0002t0120	a0001c0002t0120g0298 a0001c0002t0120g0298	1	372	0.0027	-100	c.198 others(117): Show c.198+2062_198+2161delTTCTCCTCACTCACTCATTCCTCTCCTC ACTCACTCATTCTTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCAT TCTTCTCCTCACTCACTCATTC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932121	TGAGGAGA others(93): Show TGAGGAGAGGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAG C	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0031 a0004c0007t0031	a0004c0007t0031g0211 a0004c0007t0031g0211	1	256	0.0039	-100	c.198 others(117): Show c.198+1990_198+2089delGCTCACTCATTCCTCTCCTCGCTCACTC ATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCTTCTCC TCACTCACTCATTCCTCTCCTC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932403	AGGAGAGG others(93): Show AGGAGAGGAATGAGTGAGCGAGGAGAGGAATGAGTGAGCGGGGAGAGGAA TGAGTGAGCGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTG A	A A	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0115 a0001c0002t0115	a0001c0002t0115g0234 a0001c0002t0115g0234	1	247	0.0040	-100	c.198 others(117): Show c.198+1708_198+1807delTCACTCACTCATTCCTCTCCTCACTCAC TCATTCCTCTCCCCGCTCACTCATTCCTCTCCCCGCTCACTCATTCCTCT CCTCGCTCACTCATTCCTCTCC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932461	CGGGGAGA others(93): Show CGGGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGG AATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAG T	C C	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0039 a0001c0008t0039	a0001c0008t0039g0370 a0001c0008t0039g0370	1	292	0.0034	-100	c.198 others(117): Show c.198+1650_198+1749delACTCACTCATTCTTCTCCTCACTCACTC ATTCTTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCC TCACTCACTCATTCCTCTCCCC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932469	GGAATGAG others(93): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGA G	G G	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0260 a0001c0002t0049g0260	1	375	0.0027	-100	c.198 others(117): Show c.198+1642_198+1741delCTCTCCTCACTCACTCATTCTTCTCCTC ACTCACTCATTCTTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCAT TCCTCTCCTCACTCACTCATTC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932529	AGAATGAG others(93): Show AGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA G	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02738.hp1 HG00609.hp2 HG02738.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0048 a0002c0001t0002 a0001c0002t0048 a0002c0001t0002	a0001c0002t0048g0254 a0002c0001t0002g0265 a0001c0002t0048g0254 a0002c0001t0002g0265	2	96	0.0208	-100	c.198 others(117): Show c.198+1582_198+1681delCTCTCCTCACTCACTCATTCCTCTCCTC ACTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCAT TCTTCTCCTCACTCACTCATTC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15932849	GGAATGAG others(93): Show GGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAGGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA A	A A	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0253 a0001c0002t0008g0253	1	365	0.0027	-100	c.198 others(117): Show c.198+1263_198+1362delTCTCCTCACTCACTCATTCCTCTCCTCA CTCACTCATTCCTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATT CCTCTCCTCACTCACTCATTCC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933449	GGAATGAG others(93): Show GGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTG AGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAGGAGA A	G G	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0078 a0002c0001t0078	a0002c0001t0078g0057 a0002c0001t0078g0057	1	369	0.0027	-100	c.198 others(115): Show c.198+662_198+761delTTCTCCTCACTCACTCATTCCTCTCCTCAC TCACTCATTCTTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTC TTCTCCTCACTCACTCATTC		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
CYP4F11_chr19_15907377_15939529	15933685	GAGAAGAA others(93): Show GAGAAGAATGAGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATG AGTGAGTGAGGAGAAGAATGAGTGAGTGAGGAGAGGAATGAGTGAGTGAG C	G G	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0023 a0002c0001t0023	a0002c0001t0023g0375 a0002c0001t0023g0375	1	334	0.0030	-100	c.198 others(115): Show c.198+426_198+525delGCTCACTCACTCATTCCTCTCCTCACTCAC TCATTCTTCTCCTCACTCACTCATTCCTCTCCTCACTCACTCATTCTTCT CCTCACTCACTCATTCTTCT		CYP4F11	ENSG00000171903.17	transcript	ENST00000402119.9	protein_coding	1/11						chr19	TogoVar
D2HGDH_chr2_241729630_241773811	241765706	TTGGGGAG others(93): Show TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG TTGGGGAGATGGGAGCCCCGGGCTGAGGGAGTAGGAAGAGGGGGGAGAAG G	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp2 HG01884.hp1 HG02809.hp2	a0002 a0005 a0002 a0005	a0002c0009 a0005c0018 a0002c0009 a0005c0018	a0002c0009t0008 a0005c0018t0008 a0002c0009t0008 a0005c0018t0008	a0002c0009t0008g0095 a0005c0018t0008g0325 a0002c0009t0008g0095 a0005c0018t0008g0325	2	403	0.0050	-100	c.130 others(119): Show c.1307-1904_1307-1805delGTGGGGAGATGGGAGCCCCGGGCTGA GGGAGTAGGAAGAGGGGGGAGAAGTTGGGGAGATGGGAGCCCCGGGCTGA GGGAGTAGGAAGAGGGGGGAGAAG		D2HGDH	ENSG00000180902.18	transcript	ENST00000321264.9	protein_coding	9/9					INFO_REALIGN_3_PRIME	chr2	TogoVar
DACH1_chr13_71432966_71872204	71735491	TATACACG others(93): Show TATACACGTATACGGGATATACGTGTATATGGGATATACACGTATATGGG ATATACGTGTATATGGGATATACGTGTATATGGGATATACGTGTATATGG G	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	100	0.0100	-100	c.849 others(119): Show c.849-53681_849-53582delCCCATATACACGTATATCCCATATAC ACGTATATCCCATATACACGTATATCCCATATACGTGTATATCCCATATA CACGTATATCCCGTATACGTGTAT		DACH1	ENSG00000276644.5	transcript	ENST00000613252.5	protein_coding	1/10						chr13	TogoVar
DCAKD_chr17_45018344_45056632	45051748	TGGGCGGG others(93): Show TGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCG GGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGG C	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG01070.hp2 HG01261.hp2 others(22): Show HG00438.hp1 HG01070.hp2 HG01261.hp2 HG01346.hp2 HG01975.hp1 HG01978.hp1 HG01993.hp2 HG02040.hp2 HG02300.hp2 HG03654.hp1 HG04184.hp2 HG04228.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp2 NA18960.hp1 NA18968.hp1 NA18983.hp1 NA18999.hp1 NA19007.hp1 NA19064.hp1 NA19067.hp2 NA19070.hp1 NA19086.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0006 a0001c0001t0029 a0001c0001t0004 a0001c0001t0006 a0001c0001t0029	a0001c0001t0004g0001 a0001c0001t0004g0024 a0001c0001t0004g0025 others(11): Show a0001c0001t0004g0001 a0001c0001t0004g0024 a0001c0001t0004g0025 a0001c0001t0004g0028 a0001c0001t0004g0199 a0001c0001t0004g0201 a0001c0001t0004g0203 a0001c0001t0004g0208 a0001c0001t0004g0210 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0006g0026 a0001c0001t0006g0200 a0001c0001t0029g0197	25	223	0.1121	-100	c.-60 others(109): Show c.-602_-503delGCCCAACCTCTCCCGGCCCCGCCCGCCCGCCCGCCC AACCTCTCCCGGCCCCGCCCGCCCGCCCGCCCAACCTCTCCCGGCCCCGC CCGCCCGCCCGCCC		DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding					117		chr17	TogoVar
DCAKD_chr17_45018344_45056632	45051765	GGGGCCGG others(93): Show GGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGG GCGGGCGGGCGGGCGGGGCCGGGAGAGGTTGGGCGGGCGGGCGGGCGGGG C	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 NA18995.hp1 HG04204.hp2 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0001t0004 a0001c0002t0002	a0001c0001t0004g0185 a0001c0002t0002g0125 a0001c0001t0004g0185 a0001c0002t0002g0125	2	406	0.0049	-100	c.-61 others(109): Show c.-619_-520delGCCCCGCCCGCCCGCCCGCCCAACCTCTCCCGGCCC CGCCCGCCCGCCCGCCCAACCTCTCCCGGCCCCGCCCGCCCGCCCGCCCA ACCTCTCCCGGCCC		DCAKD	ENSG00000172992.13	transcript	ENST00000651974.1	protein_coding					134		chr17	TogoVar
DHRS12_chr13_51762993_51809163	51776083	TTCTCCTA others(93): Show TTCTCCTACATGTATTCTACAGTATTCTCCTACATGTATTCTACAGTATT CTCCTACATGTATTCTCCTACATGTATTCTACAGTATTCTCCTACATGTA C	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02895.hp1 HG03041.hp1 others(2): Show HG02615.hp2 HG02895.hp1 HG03041.hp1 HG03209.hp2 HG03486.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0006 a0001c0001 a0007c0006	a0001c0001t0001 a0007c0006t0004 a0001c0001t0001 a0007c0006t0004	a0001c0001t0001g0039 a0001c0001t0001g0143 a0001c0001t0001g0152 others(2): Show a0001c0001t0001g0039 a0001c0001t0001g0143 a0001c0001t0001g0152 a0001c0001t0001g0200 a0007c0006t0004g0067	5	418	0.0120	-100	c.363 others(115): Show c.363+877_363+976delGTACATGTAGGAGAATACTGTAGAATACAT GTAGGAGAATACATGTAGGAGAATACTGTAGAATACATGTAGGAGAATAC TGTAGAATACATGTAGGAGA		DHRS12	ENSG00000102796.12	transcript	ENST00000444610.8	protein_coding	5/8						chr13	TogoVar
DHRSX_chrX_2214506_2505976	2464411	ACACACTG others(93): Show ACACACTGAAGATGTTCCCTAAGAATGTGGGTAAGGGACCGCCGCCATGT TCGCACTGAAGACGCTCCCTAAGAATGCGTCCAGGGGACTGCTGCCGTGT G	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01496.hp2 HG01934.hp1 others(13): Show HG00280.hp1 HG01496.hp2 HG01934.hp1 HG02004.hp1 HG02293.hp1 HG02486.hp2 HG02572.hp1 HG02630.hp1 HG02647.hp1 HG02886.hp1 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG03098.hp1 HG03710.hp1 NA19070.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0002c0002 a0002c0005 others(3): Show a0001c0001 a0002c0002 a0002c0005 a0003c0003 a0003c0012 a0009c0011	a0001c0001t0001 a0001c0001t0012 a0002c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0012 a0002c0002t0002 a0002c0002t0004 a0002c0005t0004 a0002c0005t0008 a0003c0003t0001 a0003c0012t0005 a0009c0011t0009	a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0025 others(13): Show a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0012g0023 a0002c0002t0002g0005 a0002c0002t0002g0026 a0002c0002t0002g0046 a0002c0002t0002g0050 a0002c0002t0004g0028 a0002c0005t0004g0030 a0002c0005t0008g0007 a0003c0003t0001g0031 a0003c0012t0005g0004 a0009c0011t0009g0008	16	48	0.3333	-100	c.109 others(119): Show c.109+36306_109+36405delCACACGGCAGCAGTCCCCTGGACGCA TTCTTAGGGAGCGTCTTCAGTGCGAACATGGCGGCGGTCCCTTACCCACA TTCTTAGGGAACATCTTCAGTGTG		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6						chrX	TogoVar
DHRSX_chrX_2214506_2505976	2464451	GCCGCCAT others(93): Show GCCGCCATGTTCGCACTGAAGACGCTCCCTAAGAATGCGTCCAGGGGACT GCTGCCGTGTGCACACTGAAGATGTTCCCTAAGAATGTGGGTAAGGGACC C	G G	intron_variant intron_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	48	0.0208	-100	c.109 others(119): Show c.109+36266_109+36365delGGGTCCCTTACCCACATTCTTAGGGA ACATCTTCAGTGTGCACACGGCAGCAGTCCCCTGGACGCATTCTTAGGGA GCGTCTTCAGTGCGAACATGGCGG		DHRSX	ENSG00000169084.15	transcript	ENST00000334651.11	protein_coding	1/6						chrX	TogoVar
DLC1_chr8_13078361_13519851	13453391	TATATATA others(93): Show TATATATATATGTGTATATATATATATATATATGTGTATATATATATGTA TATATATACATATATATATGTATATATATACATATATATGTATATATATA C	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0160 a0001c0004t0003g0160	1	191	0.0052	-100	c.102 others(121): Show c.1023+45558_1023+45657delGTATATATATACATATATATGTAT ATATATACATATATATATGTATATATATACATATATATATACACATATAT ATATATATATATACACATATATATAT		DLC1	ENSG00000164741.15	transcript	ENST00000276297.9	protein_coding	2/17						chr8	TogoVar

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