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
DPEP1_chr16_89608642_89643433	89634700	C C	CTCCTTTC others(216): Show CTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCCCTTTCCCTTCCTTCTCCTTTC CCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCC TTCCTTCTCCTTTCCCTTCCTTCT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	250	0.0040	223	c.105 others(240): Show c.105-1208_105-1207insTCCTTTCCCTTCCTTCCCTTTCCCCTTC CTTCTCCTTTCCCTTCCTTCCCTTTCCCCTTCCTTCTCCTTTCCCTTCCT TCCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCC CTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCT TTCCCTTCCTTCTCCTTTCCCTTCCTTCTCCTTTCCCTTCCTTCT	DPEP1	ENSG00000015413.10	transcript	ENST00000690203.1	protein_coding	2/10			chr16	TogoVar
DPRX_chr19_53626999_53642014	53638270	G G	GGCGTGGT others(216): Show GGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGG GCGGATGGCTTGAGCCCAGGAGTTCGAGACCAGCCTGGCCAGCATGGTAA AACCTCATCTCTACCAAAAACATCAAAATTAGCCAGTCTCATATACTGGT CTCAAAATAAATAAATAGATTAAAATTTAAACATAAAATAAACATGAGTG TGTTAGAAAGAACCTACTGGCCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	478	0.0021	223	c.12 others(234): Show c.1282_*1283insGCGTGGTGGCTCACACCTGTAATCCCAGCACTTT GGGAGGCTGAGGCGGGCGGATGGCTTGAGCCCAGGAGTTCGAGACCAGCC TGGCCAGCATGGTAAAACCTCATCTCTACCAAAAACATCAAAATTAGCCA GTCTCATATACTGGTCTCAAAATAAATAAATAGATTAAAATTTAAACATA AAATAAACATGAGTGTGTTAGAAAGAACCTACTGGCCCA	DPRX	ENSG00000204595.3	transcript	ENST00000376650.2	protein_coding		1257		chr19	TogoVar
DYNC1LI1_chr3_32520974_32575858	32538048	A A	ATTTATAT others(216): Show ATTTATATATATAATATATATATAAATTATATATATAATATATATATAAT TTATATATATAATATATATATAATTTATATATATAATTATATATATAATT TATATATATAATATATATAATTTATATATATAATTTATATATATAATTAT ATATATAATATATATATATAATTTATATATATAATATATATATAATTTAT ATATATAATATATATATATAAAAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0055 a0001c0001t0004g0055	1	336	0.0030	223	c.739 others(238): Show c.739-945_739-944insATTTTATATATATATATTATATATATAAAT TATATATATATTATATATATAAATTATATATATATATTATATATATAATT ATATATATAAATTATATATATAAATTATATATATTATATATATAAATTAT ATATATAATTATATATATAAATTATATATATATTATATATATAAATTATA TATATATTATATATATAATTTATATATATATTATATATATAAA	DYNC1LI1	ENSG00000144635.9	transcript	ENST00000273130.9	protein_coding	5/12			chr3	TogoVar
DYNC2I1_chr7_158851558_158951189	158916782	G G	GTCGCTGG others(216): Show GTCGCTGGTTGACATTAAGGATGACTGTGAAACATCGACAGGCTGGTTGA CATTAAGGATGATTGTGAAACCTCGACATGCTGGTTGAGATTAAGGATGA TTGTGAAACCTCGACACAGTGGTTGATATTAAGGATGATTGTGAAACCTC TACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTT GAGATCAAGGATGATTGTGAAACC	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0084 a0002c0002t0001g0084	1	274	0.0037	223	c.179 others(242): Show c.1792-1955_1792-1954insCTGGTTGACATTAAGGATGACTGTGA AACATCGACAGGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACATG CTGGTTGAGATTAAGGATGATTGTGAAACCTCGACACAGTGGTTGATATT AAGGATGATTGTGAAACCTCTACACGCTGGTTGAGATTAAGGATGATTGT GAAACGTCGACACGCTGGTTGAGATCAAGGATGATTGTGAAACCTCG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158916820	G G	GTCGCTGG others(216): Show GTCGCTGGTTGACATTAAGGATGACTGTGAAACATCGACAGGCTGGTTGA CATTAAGGATGATTGTGAAACCTCGACATGCTGGTTGAGATTAAGGATGA TTGTGAAACCTCGACACAGTGGTTGATATTAAGGATGATTGTGAAACCTC TACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTT GAGATCAAGGATGATTGTGAAACC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0091 a0002c0002t0001g0091	1	274	0.0037	223	c.179 others(242): Show c.1792-1917_1792-1916insCTGGTTGACATTAAGGATGACTGTGA AACATCGACAGGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACATG CTGGTTGAGATTAAGGATGATTGTGAAACCTCGACACAGTGGTTGATATT AAGGATGATTGTGAAACCTCTACACGCTGGTTGAGATTAAGGATGATTGT GAAACGTCGACACGCTGGTTGAGATCAAGGATGATTGTGAAACCTCG	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
DYNC2I1_chr7_158851558_158951189	158916858	G G	GTCGCTGG others(216): Show GTCGCTGGTTGACATTAAGGATGACTGTGAAACATCGACAGGCTGGTTGA CATTAAGGATGATTGTGAAACCTCGACATGCTGGTTGAGATTAAGGATGA TTGTGAAACCTCGACACAGTGGTTGATATTAAGGATGATTGTGAAACCTC TACACGCTGGTTGAGATTAAGGATGATTGTGAAACGTCGACACGCTGGTT GAGATCAAGGATGATTGTGAAACC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0051 a0013c0015t0001g0051	1	274	0.0037	223	c.179 others(242): Show c.1792-1880_1792-1879insGCTGGTTGACATTAAGGATGACTGTG AAACATCGACAGGCTGGTTGACATTAAGGATGATTGTGAAACCTCGACAT GCTGGTTGAGATTAAGGATGATTGTGAAACCTCGACACAGTGGTTGATAT TAAGGATGATTGTGAAACCTCTACACGCTGGTTGAGATTAAGGATGATTG TGAAACGTCGACACGCTGGTTGAGATCAAGGATGATTGTGAAACCTC	DYNC2I1	ENSG00000126870.16	transcript	ENST00000407559.8	protein_coding	14/24		INFO_REALIGN_3_PRIME	chr7	TogoVar
EIPR1_chr2_3183970_3382818	3316062	C C	CTACCACC others(216): Show CTACCACCACCATCACCACCATCCCCATCCACAGCCCCTACCACCACCAT CACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCC ATCCACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCT ACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCA CCACCATCCCCATCCACACCCCCT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0189 a0001c0001t0001g0190	2	250	0.0080	223	c.259 others(242): Show c.259+21954_259+21955insAGGGGGTGTGGATGGGGATGGTGGTG ATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAG GGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGG GGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGAT GGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTGATGGTGGTGGTA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELOVL6_chr4_110040846_110203615	110083967	G G	GATATAAC others(216): Show GATATAACATATGCTATATATCATATATATCATATATAACATATGTTATA TATGATATATATGATATATAGCATATGTTATATATATATAACATATATAT ATGATATATAACATATGTTATATATGATATATAACATATGTTATATATCA TATATGTTATATATCATATATGTTATATATCATATATATGTTATATATCA TATATAACATATGCTATATACGAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02055.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0027 a0001c0001t0009 a0001c0001t0027	a0001c0001t0009g0046 a0001c0001t0027g0022 a0001c0001t0009g0046 a0001c0001t0027g0022	2	338	0.0059	223	c.221 others(242): Show c.221+21529_221+21530insATCGTATATAGCATATGTTATATATG ATATATAACATATATATGATATATAACATATATGATATATAACATATATG ATATATAACATATGTTATATATCATATATAACATATGTTATATATCATAT ATATATGTTATATATATATAACATATGCTATATATCATATATATCATATA TAACATATGTTATATATGATATATATGATATATAGCATATGTTATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
EYS_chr6_63714980_65712226	64295352	A A	AGGAGGAG others(216): Show AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGGAGAAG AAGCAGAAGGAGAAGAAGCAGAAGAAGAAGCAGAAGCAGCAGAAGAAGCA GGAGCAGCAGAAGCAGAAGAAGAAGCAGAAGCAGAAGAAGAAGCAGAAGA AGAAGCAGAAGAAGAAGCAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG CAGAAGAAGAAGAAGAAGCAGAAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0015 a0011c0010t0001g0015	1	24	0.0417	223	c.619 others(244): Show c.6191+11617_6191+11618insCTTCTGCTTCTTCTTCTTCTTCTG CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTGCTTCTTCTTCTGCTTCT TCTTCTGCTTCTTCTTCTGCTTCTGCTTCTTCTTCTGCTTCTGCTGCTCC TGCTTCTTCTGCTGCTTCTGCTTCTTCTTCTGCTTCTTCTCCTTCTGCTT CTTCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	30/42			chr6	TogoVar
EYS_chr6_63714980_65712226	64295354	G G	GAGGAGGA others(216): Show GAGGAGGAGGAGGAGGAGGAGGAGGAGAAGGAGAAGAAGCAGAAGGAGAA GAAGCAGAAGCAGAAGCAGAAGCAGAAGAAGAAGCAGAAGCAGCAGAAGA AGCAGGAGCAGCAGAAGCAGAAGAAGAAGCAGAAGCAGAAGCAGAAGCAG AAGCAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGAAGCAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGCA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0014 a0014	a0014c0003 a0014c0003	a0014c0003t0001 a0014c0003t0001	a0014c0003t0001g0016 a0014c0003t0001g0016	1	24	0.0417	223	c.619 others(244): Show c.6191+11615_6191+11616insTGCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTCTGCTTCTTCTTCTGCTT CTGCTTCTGCTTCTGCTTCTGCTTCTTCTTCTGCTTCTGCTGCTCCTGCT TCTTCTGCTGCTTCTGCTTCTTCTTCTGCTTCTGCTTCTGCTTCTGCTTC TTCTCCTTCTGCTTCTTCTCCTTCTCCTCCTCCTCCTCCTCCTCCTCCT	EYS	ENSG00000188107.15	transcript	ENST00000503581.6	protein_coding	30/42			chr6	TogoVar
FAM240C_chr2_241888988_241905464	241896714	G G	GGGGTGTG others(216): Show GGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTGGGTGTTGGGGTGTG GGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTGGGGGTGTGGGTGTTGG GGTGTGGGTGTTGGGGTGTGGGTGAAGGGGTTTGGGTGTTGGGGTGTGGG TGTTGGGGTGTGGGTGTGGGGGTGTGGGTGTTGGGGTGTGGGTGAAGGGG TGTGTGTGTTGGGGTGTGGGTGAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	37	0.0270	223	c.161 others(238): Show c.161+471_161+472insTTCACCCACACCCCAACACACACACCCCTT CACCCACACCCCAACACCCACACCCCCACACCCACACCCCAACACCCACA CCCCAACACCCAAACCCCTTCACCCACACCCCAACACCCACACCCCAACA CCCACACCCCCACACCCACACCCCCACACCCACACCCCCACACCCACACC CCAACACCCACACCCCAACACCCACACCCCAACACCCACACCC	FAM240C	ENSG00000216921.9	transcript	ENST00000404031.6	protein_coding	2/2			chr2	TogoVar
FOXJ3_chr1_42171548_42340235	42222001	G G	GGAGGGGG others(216): Show GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGAAGGAGAAGGAGGAGGAGGAGGAGAAGGAGAAGG AGAAGGAGGAGAAGGAGAAGGAGA	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0090 a0001c0001t0001g0090	1	332	0.0030	223	c.528 others(240): Show c.528+5881_528+5882insTCTCCTTCTCCTTCTCCTCCTTCTCCTT CTCCTTCTCCTCCTCCTCCTCCTTCTCCTTCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC	FOXJ3	ENSG00000198815.9	transcript	ENST00000361346.6	protein_coding	5/12			chr1	TogoVar
FOXQ1_chr6_1307098_1319758	1317201	T T	TCCCCCAC others(216): Show TCCCCCACCCCATCCCTCCTCCCGCCCCCCCCTCCAGCCCTACCCCTCCC CCCCAATTCACCATCCCTCCCTCCCGCGCCCCCCCCCCTCCAGCCTACCC CTCCCTCCCCCCCCTGCCCACCCCCACCCCTCCTCCCGCCCCCCCTCCAG CCTACCCCCTCCCCCCCCCCACCCACCTCTCCTCCCGCCTCCCCCCCCAG CCTACCCCCTCCCCCGCCCACCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	406	0.0025	223	c.32 others(234): Show c.3285_*3286insCCCCCACCCCATCCCTCCTCCCGCCCCCCCCTCC AGCCCTACCCCTCCCCCCCAATTCACCATCCCTCCCTCCCGCGCCCCCCC CCCTCCAGCCTACCCCTCCCTCCCCCCCCTGCCCACCCCCACCCCTCCTC CCGCCCCCCCTCCAGCCTACCCCCTCCCCCCCCCCACCCACCTCTCCTCC CGCCTCCCCCCCCAGCCTACCCCCTCCCCCGCCCACCCC	FOXQ1	ENSG00000164379.7	transcript	ENST00000296839.5	protein_coding		2444		chr6	TogoVar
GABRA2_chr4_46238548_46395128	46377595	C C	CTAGCCGC others(216): Show CTAGCCGCCCGGTCCAGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTA CTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCTCCCCGTCCGGGAGGG AGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAAGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCCGGCCAGCTGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	NA18953.hp1 NA19090.hp2 NA18953.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0022 a0001c0001t0010 a0001c0001t0022	a0001c0001t0010g0115 a0001c0001t0022g0088 a0001c0001t0010g0115 a0001c0001t0022g0088	2	258	0.0078	223	c.187 others(240): Show c.187+8478_187+8479insCCCGGACGGGGCAGCTGGCCGGGCAGAG GGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACTT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCT CCCGGACGGGGAGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCTGGACCGGGCGGCTA	GABRA2	ENSG00000151834.16	transcript	ENST00000381620.9	protein_coding	3/9			chr4	TogoVar
GALNT9_chr12_132191372_132334589	132244749	C C	CTGGACGG others(216): Show CTGGACGGGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCT GGACGGGGGCGTGGTGATGGGGCTGGATGGGGGCGTGGTGATGGGGCTGG ACGGGGGGGCGTGGTGATGGGGCTGGATGGGGGGGCGTGGTGATGGGGCT GGACGGGGGCGTGGTGATGGGGCTGGACGGGGGAGCGTGGTGATGGGGCT GGACGGGCAGCATGGTGATGGAGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03139.hp1 HG03139.hp2 HG02683.hp2 HG03139.hp1 HG03139.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0001c0005 a0004c0023 a0001c0002 a0001c0005 a0004c0023	a0001c0002t0005 a0001c0005t0001 a0004c0023t0005 a0001c0002t0005 a0001c0005t0001 a0004c0023t0005	a0001c0002t0005g0066 a0001c0005t0001g0008 a0004c0023t0005g0028 a0001c0002t0005g0066 a0001c0005t0001g0008 a0004c0023t0005g0028	3	183	0.0164	223	c.107 others(242): Show c.1077+3160_1077+3161insACTCCATCACCATGCTGCCCGTCCAG CCCCATCACCACGCTCCCCCGTCCAGCCCCATCACCACGCCCCCGTCCAG CCCCATCACCACGCCCCCCCATCCAGCCCCATCACCACGCCCCCCCGTCC AGCCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGTCCAG CCCCATCACCACGCCCCCATCCAGCCCCATCACCACGCCCCCGTCCA	GALNT9	ENSG00000182870.13	transcript	ENST00000328957.13	protein_coding	6/10			chr12	TogoVar
GLB1L3_chr11_134271379_134324564	134308489	T T	TCACCACC others(216): Show TCACCACCACCACCACCACCACCACCACCACCAAATACCACCACCACCAC CATGTCCACCACCACTACCACCACCATCACCATCACCACCACCACCACCA CCATCACCATCACCATCATCACCATCACCTCCACCACCACCACCACTATC ACCACCATCACCATCACCACCATCACCACCATCACCATCACCACCACCAC CACCATCACCACCACCACCACCAC	intron_variant intron_variant	MODIFIER	HG00544.hp1 NA18940.hp1 NA18951.hp1 others(8): Show HG00544.hp1 NA18940.hp1 NA18951.hp1 NA18952.hp1 NA18962.hp2 NA18963.hp1 NA18977.hp2 NA18994.hp1 NA19011.hp1 NA19062.hp1 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0041 a0001c0003t0001g0042 others(5): Show a0001c0003t0001g0001 a0001c0003t0001g0041 a0001c0003t0001g0042 a0001c0003t0001g0043 a0001c0003t0001g0044 a0001c0003t0001g0046 a0001c0003t0001g0049 a0001c0003t0001g0093	11	422	0.0261	223	c.962 others(240): Show c.962-1129_962-1128insCCACCACCACCACCACCACCACCAAATA CCACCACCACCACCATGTCCACCACCACTACCACCACCATCACCATCACC ACCACCACCACCACCATCACCATCACCATCATCACCATCACCTCCACCAC CACCACCACTATCACCACCATCACCATCACCACCATCACCACCATCACCA TCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA	GLB1L3	ENSG00000166105.16	transcript	ENST00000431683.7	protein_coding	10/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
GLOD4_chr17_754330_787280	768701	G G	GGAAGAAA others(216): Show GGAAGAAATCTGGAGAGGACGTGAGAGGGAGAAACAGCGCGCACTCAGAT TTTTAGAAGAAGAAGTCTGGAGAGGACGTGAGAGAGAGAAACAGCGCGCA CTCAGATTTTTAGAAGAAGAAATCTGGAGAGGACGTGAGAGGGAGAAACA GCGCGCACTCAGATTTTTAGAGGAAGAAATCTGGAGAGGACGTGAGAGAG AAACAGCGCGCACTCAGATTTTTA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02896.hp1 HG02451.hp2 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	2	420	0.0048	223	c.831 others(240): Show c.831+1167_831+1168insTAAAAATCTGAGTGCGCGCTGTTTCTCT CTCACGTCCTCTCCAGATTTCTTCCTCTAAAAATCTGAGTGCGCGCTGTT TCTCCCTCTCACGTCCTCTCCAGATTTCTTCTTCTAAAAATCTGAGTGCG CGCTGTTTCTCTCTCTCACGTCCTCTCCAGACTTCTTCTTCTAAAAATCT GAGTGCGCGCTGTTTCTCCCTCTCACGTCCTCTCCAGATTTCTTC	GLOD4	ENSG00000167699.14	transcript	ENST00000301329.11	protein_coding	8/8			chr17	TogoVar
GNAQ_chr9_77711097_78036811	77894361	T T	TATAATAT others(216): Show TATAATATATATATTTAATAGAAAATATATAATATATATTTAATAGAAAA TATATAATATATATATTTAATAGAAAATATATAATATATATTTAATAGAA AATATATATAATATATATATTTAATAGAAAAAATATATAATATATATATT TAATAGAAAAATATATATATTATATATAATTTAATATTAAATATATATAT AATATATATATTTAATATTAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03041.hp1 HG02895.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0032 a0001c0001t0019 a0001c0001t0032	a0001c0001t0019g0277 a0001c0001t0032g0278 a0001c0001t0019g0277 a0001c0001t0032g0278	2	282	0.0071	223	c.321 others(242): Show c.321+27799_321+27800insTTTTTAATATTAAATATATATATTAT ATATATATTTAATATTAAATTATATATAATATATATATTTTTCTATTAAA TATATATATTATATATTTTTTCTATTAAATATATATATTATATATATTTT CTATTAAATATATATTATATATTTTCTATTAAATATATATATTATATATT TTCTATTAAATATATATTATATATTTTCTATTAAATATATATATTAT	GNAQ	ENSG00000156052.11	transcript	ENST00000286548.9	protein_coding	2/6			chr9	TogoVar
GPR157_chr1_9095305_9134102	9116292	A A	ATTATATT others(216): Show ATTATATTATATATAATTATATATAATTATATTATATATTATATGTAATA TAAATATATATAATTATATTATATATATTATATGTAATATAATTATATAT ATTTATATTATATATTATATATAATATAATTATATATATAATTATAATAT ATATTATATATAATATAATTATATATATAATTTATATATTATATATAATA TAATTATAGATATAATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp2 HG01074.hp1 others(22): Show HG00609.hp2 HG00735.hp2 HG01074.hp1 HG01167.hp2 HG01175.hp1 HG01516.hp1 HG01934.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02970.hp2 HG03041.hp2 HG03209.hp1 HG03225.hp1 HG04115.hp2 NA18971.hp1 NA18974.hp2 NA18977.hp1 NA19057.hp1 NA19059.hp2 NA19081.hp1 NA19083.hp2 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0029 a0001c0001t0030 others(4): Show a0001c0001t0006 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0045 a0001c0001t0048 a0001c0001t0106	a0001c0001t0006g0006 a0001c0001t0006g0039 a0001c0001t0006g0055 others(21): Show a0001c0001t0006g0006 a0001c0001t0006g0039 a0001c0001t0006g0055 a0001c0001t0006g0057 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0062 a0001c0001t0006g0063 a0001c0001t0006g0065 a0001c0001t0006g0069 a0001c0001t0006g0071 a0001c0001t0006g0098 a0001c0001t0006g0181 a0001c0001t0006g0319 a0001c0001t0029g0067 a0001c0001t0029g0068 a0001c0001t0030g0037 a0001c0001t0030g0072 a0001c0001t0031g0036 a0001c0001t0031g0061 a0001c0001t0045g0066 a0001c0001t0048g0038 a0001c0001t0106g0056	25	404	0.0619	223	c.384 others(240): Show c.384-4804_384-4803insATATATATATTATATCTATAATTATATT ATATATAATATATAAATTATATATATAATTATATTATATATAATATATAT TATAATTATATATATAATTATATTATATATAATATATAATATAAATATAT ATAATTATATTACATATAATATATATAATATAATTATATATATTTATATT ACATATAATATATAATATAATTATATATAATTATATATAATATAA	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
GPR157_chr1_9095305_9134102	9116317	A A	AATTATAT others(216): Show AATTATATATAATTATATTATATATTATATGTAATATAAATATATATAAT TATATTATATATATTATATGTAATATAATTATATATATTTATATTATATA TTATATATAATATAATTATATATATAATTATAATATATATTATATATAAT ATAATTATATATATAATTTATATATATTATATATAATATAATTATATATA TAATATATATATAATTATATAATT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0127 a0001c0001t0005g0127	1	404	0.0025	223	c.384 others(240): Show c.384-4829_384-4828insAATTATATAATTATATATATATTATATA TATAATTATATTATATATAATATATATAAATTATATATATAATTATATTA TATATAATATATATTATAATTATATATATAATTATATTATATATAATATA TAATATAAATATATATAATTATATTACATATAATATATATAATATAATTA TATATATTTATATTACATATAATATATAATATAATTATATATAAT	GPR157	ENSG00000180758.12	transcript	ENST00000377411.5	protein_coding	1/3			chr1	TogoVar
HCN2_chr19_584881_622159	602189	C C	CCCTCCTC others(216): Show CCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCT GCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTC CCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTG CGTGGACGCCCCACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCT CTCTCCTGCGTGGACGCCCCACTT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0342 a0002c0004t0001g0342	1	408	0.0025	223	c.633 others(240): Show c.633-1149_633-1148insGCGTGGACGCCCCACTTCCTCCTCTCTC CTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCC CACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCC TCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCTCCTGCGTGGACGCCCC ACTTCCTCCTCTCCTGCGTGGACGCCCCACTCCCTCCTCTCTCCT	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
HMGB4_chr1_33859079_33869791	33864929	A A	AGGAGAGG others(216): Show AGGAGAGGGGAAGGGAGGAGAAGGGAAGGGAGGGGAAGGGAGGGAGAAGG AGTGGGATGGAGGGAGAGAAGGGGGAGGAGGGGGAGGGAGAGGATGGGGA GAGTGAGGAGGGGGAGGGGAGGGGAGGGAGAGGAGGGGAAGGGAGGGAGA GGAGGGGGAGAGAGGGGAAGGGAGGGAGAGGAGGGGGAGAGAGGGGAAGG GAGGGGAGGGGGAGGGGGAGGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	402	0.0025	223	c.17 others(232): Show c.177_*178insGGAGAGGGGAAGGGAGGAGAAGGGAAGGGAGGGGAA GGGAGGGAGAAGGAGTGGGATGGAGGGAGAGAAGGGGGAGGAGGGGGAGG GAGAGGATGGGGAGAGTGAGGAGGGGGAGGGGAGGGGAGGGAGAGGAGGG GAAGGGAGGGAGAGGAGGGGGAGAGAGGGGAAGGGAGGGAGAGGAGGGGG AGAGAGGGGAAGGGAGGGGAGGGGGAGGGGGAGGGAG	HMGB4	ENSG00000176256.11	transcript	ENST00000681531.1	protein_coding		139		chr1	TogoVar
IFITM10_chr11_1727406_1755595	1754348	T T	TGAGGGGC others(216): Show TGAGGGGCATGGAGGGATGGAGGGGATGGAGGGGCATAGAGGGATGGAGG GGATGGAGGGGCATAGAGGGATGGAGGGGATGGAGGGGATGAAGGGATGG AGGGGCATGGAGGGATGGAGGGGATGGAGGGGCATAGAGGGATGGAGGGG ATGGAGGGGCATAGAGGGATGGAGGGGATGGAGGGGCATAGAGGGATGGA GGGGATGGAGGGGATGAAGGGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0175 a0001c0001t0002g0175	1	406	0.0025	223	c.-39 others(234): Show c.-3907_-3906insCATCCCTTCATCCCCTCCATCCCCTCCATCCCTC TATGCCCCTCCATCCCCTCCATCCCTCTATGCCCCTCCATCCCCTCCATC CCTCTATGCCCCTCCATCCCCTCCATCCCTCCATGCCCCTCCATCCCTTC ATCCCCTCCATCCCCTCCATCCCTCTATGCCCCTCCATCCCCTCCATCCC TCTATGCCCCTCCATCCCCTCCATCCCTCCATGCCCCTC	IFITM10	ENSG00000244242.2	transcript	ENST00000340134.5	protein_coding		3754		chr11	TogoVar
IFITM5_chr11_293200_304526	294512	A A	ACCCCAGG others(216): Show ACCCCAGGCTGTCCCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTGCC CCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTGCCCTCTCACCCCCAG GCTGCCCCTCACCCCCAGACTGCCCTCTCACCCCCAGGCTGCCCTCTCAC CCCCAGGCTGCCCCTCACCCCCAGGCTGCCCTCTCACCCCCAGGCTGCCC CTCACCCCCAGACTGCCCTCTCAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0009	1	434	0.0023	223	c.39 others(234): Show c.3988_*3989insGTGAGAGGGCAGTCTGGGGGTGAGGGGCAGCCTG GGGGTGAGAGGGCAGCCTGGGGGTGAGGGGCAGCCTGGGGGTGAGAGGGC AGCCTGGGGGTGAGAGGGCAGTCTGGGGGTGAGGGGCAGCCTGGGGGTGA GAGGGCAGCCTGGGGGTGAGAGGGCAGTCTGGGGGTGAGGGGCAGCCTGG GGGTGAGAGGGCAGTCTGGGGGTGAGGGACAGCCTGGGG	IFITM5	ENSG00000206013.2	transcript	ENST00000382614.2	protein_coding		3687		chr11	TogoVar
IFNAR1_chr21_33319970_33364864	33322707	A A	ATATGTAC others(216): Show ATATGTACGGAACATATATATACGGAATGTATATATAATATATGTACGGA ACATATATATACGGAATGTATATATAATATATGTACGGAACATATATATA CGGAATGTATATATAATATATGTACGGAACATATATATACGGAATGTATA TATAATATATGTACGGAACATATATATACGGAATGTATATATAATATATG TACGGAACATATATATACGGAATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	323	0.0031	223	c.-23 others(234): Show c.-2349_-2348insTATGTACGGAACATATATATACGGAATGTATATA TAATATATGTACGGAACATATATATACGGAATGTATATATAATATATGTA CGGAACATATATATACGGAATGTATATATAATATATGTACGGAACATATA TATACGGAATGTATATATAATATATGTACGGAACATATATATACGGAATG TATATATAATATATGTACGGAACATATATATACGGAATG	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2262		chr21	TogoVar
IPO11_chr5_62407763_62633582	62598527	T T	TTTCTTTC others(216): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00741.hp2 NA18950.hp2 HG00741.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0128 a0001c0001t0001g0134	2	330	0.0061	223	c.267 others(242): Show c.2679-3235_2679-3234insCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	IPO11	ENSG00000086200.17	transcript	ENST00000325324.11	protein_coding	28/29		INFO_REALIGN_3_PRIME	chr5	TogoVar
IQSEC3_chr12_61767_183455	130986	A A	ATCCTCAG others(216): Show ATCCTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCTCCCCACACCTGG CCCCCGCTCCTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCTCCCCAC ACCTCCCCGCGATCCTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCTC CCCACACCTGGCCCCCGCTCCTCAGCACTGTGCCCCCCAGCTAGCGGCTC TTCCTCCCCACACCTGGCCCCCGC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0006 a0002c0001t0006	a0002c0001t0006g0175 a0002c0001t0006g0175	1	282	0.0036	223	c.903 others(240): Show c.903+5173_903+5174insACCTCCCCGCGATCCTCAGCACTGTGCC CCCCAGCTAGCGGCTCTTCCTCCCCACACCTGGCCCCCGCTCCTCAGCAC TGTGCCCCCCAGCTAGCGGCTCTTCCTCCCCACACCTGGCCCCCGCTCCT CAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCTCCCCACACCTGGCCCCC GCTCCTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCTCCCCAC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	131042	C C	CTCCTCAG others(216): Show CTCCTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCTCCCCACACCTGG CCCCCGCTCCTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCTCCCCAC ACCTGGCCCCCGCTCCTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCT CCCCACACCTGGCCCCCGCTCCTCAGCACTGTGCCCCCCAGCTAGCGGCT CTTCCTCCCCACACCTCCCCGCGA	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0143 a0002c0001t0002g0143	1	282	0.0036	223	c.903 others(240): Show c.903+5173_903+5174insACCTGGCCCCCGCTCCTCAGCACTGTGC CCCCCAGCTAGCGGCTCTTCCTCCCCACACCTGGCCCCCGCTCCTCAGCA CTGTGCCCCCCAGCTAGCGGCTCTTCCTCCCCACACCTGGCCCCCGCTCC TCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCTCCCCACACCTCCCCGC GATCCTCAGCACTGTGCCCCCCAGCTAGCGGCTCTTCCTCCCCAC	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
ITPK1_chr14_92931914_93120925	93058703	A A	AGGTCACG others(216): Show AGGTCACGAGGCAGGGGTGGAGGGGGTGCGGATCATGAGGCAAGGGTGAA CGGGGTGCGGGTTACGAGGGAGGGTGGAGGGGGTGCGGGTCTTGAGGCGG GGGCGGGTGCTGGTCACAAGGTGGGGTGGAGGGGGTACGGGTCACAAGGC GGGGTGGAGGGGGTGCAGGTCGTGAGGCAGGGGTGGAGGGGGTGCAGGTC ACGAGGCGGGGTGGAGGGGGTGCG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01261.hp2 HG02965.hp1 others(1): Show HG00323.hp1 HG01261.hp2 HG02965.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0035 a0001c0001t0002g0083 a0001c0001t0002g0107 others(1): Show a0001c0001t0002g0035 a0001c0001t0002g0083 a0001c0001t0002g0107 a0001c0001t0014g0174	4	243	0.0165	223	c.120 others(242): Show c.120+17669_120+17891dupCGCACCCCCTCCACCCCGCCTCGTGA CCTGCACCCCCTCCACCCCTGCCTCACGACCTGCACCCCCTCCACCCCGC CTTGTGACCCGTACCCCCTCCACCCCACCTTGTGACCAGCACCCGCCCCC GCCTCAAGACCCGCACCCCCTCCACCCTCCCTCGTAACCCGCACCCCGTT CACCCTTGCCTCATGATCCGCACCCCCTCCACCCCTGCCTCGTGACC	ITPK1	ENSG00000100605.17	transcript	ENST00000267615.11	protein_coding	3/10			chr14	TogoVar
KAT2B_chr3_20035446_20159404	20062025	C C	CATAATAT others(216): Show CATAATATATATTATATAAAACATATAATATATATTATATATAAAACATA TAATATATATTATATATAAAACATATAATATATATTATATATAAAACATA TAATATATATTATATATAAAACATATAATATATATTATATATAAAACATA TAATATATATTATATATAAAACATATAATATATATTATATATAAAACATA TAATATATATTATATATAAAACAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	374	0.0027	223	c.304 others(242): Show c.304-10291_304-10290insAAACATATAATATATATTATATATAA AACATATAATATATATTATATATAAAACATATAATATATATTATATATAA AACATATAATATATATTATATATAAAACATATAATATATATTATATATAA AACATATAATATATATTATATATAAAACATATAATATATATTATATATAA AACATATAATATATATTATATATAAAACATATAATATATATTATATA	KAT2B	ENSG00000114166.8	transcript	ENST00000263754.5	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
KATNIP_chr16_27545144_27785344	27713641	T T	TTATGTGT others(216): Show TTATGTGTGTGTATATATATACACACACATATATATAATATGTGTGTGTA TATATATACACACACATATTATATATATGTGTGTGTATATATATACACAT ACATATATATATATATGTATGTGTATATATATACACATACATATTATATA TATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTAT ATATATACACATACATATTATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	152	0.0066	223	c.160 others(242): Show c.1605+4745_1605+4746insCACATATATATAATATGTGTGTGTAT ATATATACACACACATATTATATATATGTGTGTGTATATATATACACATA CATATATATATATATGTATGTGTATATATATACACATACATATTATATAT ATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTATA TATATACACATACATATTATATATATGTGTGTGTATATATATACACA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27713641	T T	TTATGTGT others(216): Show TTATGTGTGTGTATATATATACACACACATATATATAATATGTGTGTGTA TATATATACACATACATATTATATATATGTGTGTGTATATATATACACAC ACATATATATATATATGTATGTGTATATATATACACATACATATTATATA TATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTAT ATATATACACATACATATTATATA	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01517.hp2 HG00140.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0057 a0001c0001t0001g0039 a0001c0001t0001g0057	2	152	0.0132	223	c.160 others(242): Show c.1605+4745_1605+4746insCACATATATATAATATGTGTGTGTAT ATATATACACATACATATTATATATATGTGTGTGTATATATATACACACA CATATATATATATATGTATGTGTATATATATACACATACATATTATATAT ATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTATA TATATACACATACATATTATATATATGTGTGTGTATATATATACACA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27713641	T T	TTATGTGT others(216): Show TTATGTGTGTGTATATATATACACACACATATATATAATATGTGTGTGTA TATATATACACATACATATTATATATATGTGTGTGTATATATATACACAT ACATATATATATATATGTATGTGTATATATATACACACACATATTATATA TATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTAT ATATATACACATACATATTATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	152	0.0066	223	c.160 others(242): Show c.1605+4745_1605+4746insCACATATATATAATATGTGTGTGTAT ATATATACACATACATATTATATATATGTGTGTGTATATATATACACATA CATATATATATATATGTATGTGTATATATATACACACACATATTATATAT ATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTATA TATATACACATACATATTATATATATGTGTGTGTATATATATACACA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27713641	T T	TTATGTGT others(216): Show TTATGTGTGTGTATATATATACACACACATATATATAATATGTGTGTGTA TATATATACACATACATATTATATATATGTGTGTGTATATATATACACAT ACATATATATATATATGTATGTGTATATATATACACATACATATTATATA TATGTGTGTGTATATATATACACACACATATTATATATATGTGTGTGTAT ATATATACACATACATATTATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	152	0.0066	223	c.160 others(242): Show c.1605+4745_1605+4746insCACATATATATAATATGTGTGTGTAT ATATATACACATACATATTATATATATGTGTGTGTATATATATACACATA CATATATATATATATGTATGTGTATATATATACACATACATATTATATAT ATGTGTGTGTATATATATACACACACATATTATATATATGTGTGTGTATA TATATACACATACATATTATATATATGTGTGTGTATATATATACACA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KATNIP_chr16_27545144_27785344	27713641	T T	TTATGTGT others(216): Show TTATGTGTGTGTATATATATACACACACATATATATAATATGTGTGTGTA TATATATACACATACATATTATATATATGTGTGTGTATATATATACACAT ACATATATATATATATGTATGTGTATATATATACACATACATATTATATA TATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTAT ATATATACACATACATATTATATA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02055.hp1 HG02109.hp1 others(4): Show HG00741.hp1 HG02055.hp1 HG02109.hp1 HG02155.hp2 HG02897.hp1 HG03130.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0023 a0001c0001 a0001c0023	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0023t0001	a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0093 others(4): Show a0001c0001t0001g0082 a0001c0001t0001g0089 a0001c0001t0001g0093 a0001c0001t0004g0025 a0001c0001t0004g0052 a0001c0001t0006g0037 a0001c0023t0001g0060	7	152	0.0461	223	c.160 others(242): Show c.1605+4745_1605+4746insCACATATATATAATATGTGTGTGTAT ATATATACACATACATATTATATATATGTGTGTGTATATATATACACATA CATATATATATATATGTATGTGTATATATATACACATACATATTATATAT ATGTGTGTGTATATATATACACATACATATTATATATATGTGTGTGTATA TATATACACATACATATTATATATATGTGTGTGTATATATATACACA	KATNIP	ENSG00000047578.14	transcript	ENST00000261588.10	protein_coding	13/27		INFO_REALIGN_3_PRIME	chr16	TogoVar
KCNK2_chr1_215077737_215242090	215209580	A A	ATATATAA others(216): Show ATATATAAAATATATAAAATAGATATATATAAAATATATAAAATAGATAT TATATATAAAATATATATAATATATATATAAAATAGATATTATATATAAA ATATATATTATATATTATATAAAATATATATTATATATTATATAATATAT AATATATATTATATATATTATATATTATATATTAAATATATATTATATAT ATATAATATATATTAAATATATAT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02083.hp2 HG02523.hp1 others(1): Show HG00597.hp1 HG02083.hp2 HG02523.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0044 a0001c0001t0070 a0001c0001t0028 a0001c0001t0044 a0001c0001t0070	a0001c0001t0028g0041 a0001c0001t0028g0051 a0001c0001t0044g0194 others(1): Show a0001c0001t0028g0041 a0001c0001t0028g0051 a0001c0001t0044g0194 a0001c0001t0070g0186	4	260	0.0154	223	c.963 others(242): Show c.963+14503_963+14504insAAATAGATATATATAAAATATATAAA ATAGATATTATATATAAAATATATATAATATATATATAAAATAGATATTA TATATAAAATATATATTATATATTATATAAAATATATATTATATATTATA TAATATATAATATATATTATATATATTATATATTATATATTAAATATATA TTATATATATATAATATATATTAAATATATATTATATAAAATATATA	KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
KIAA1958_chr9_112481827_112674397	112514856	G G	GGGGTCGG others(216): Show GGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGC CAGCCCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	308	0.0033	223	c.-25 others(242): Show c.-25+27741_-25+27742insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAG TGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGG GGGTCAGCCCCCCACCCGGCCAGCCCCCCGTCCGGGAGGGAGGTGGG	KIAA1958	ENSG00000165185.15	transcript	ENST00000337530.11	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr9	TogoVar
KIF25_chr6_167992671_168050091	167997471	A A	ATCTGCAG others(216): Show ATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAA TCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGATGGGGGTCGGGGGAAT CTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATGGGGCGACGGGGGAAT CTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGATGGGGGGCGGGGGAGT CTGCAGAGATGGGGGGCGGGGGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02615.hp1 HG02622.hp1 others(2): Show HG01243.hp2 HG02615.hp1 HG02622.hp1 HG02970.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0008 a0001c0003t0015 a0001c0001t0008 a0001c0003t0015	a0001c0001t0008g0279 a0001c0001t0008g0280 a0001c0001t0008g0281 others(2): Show a0001c0001t0008g0279 a0001c0001t0008g0280 a0001c0001t0008g0281 a0001c0001t0008g0282 a0001c0003t0015g0288	5	375	0.0133	223	c.-19 others(234): Show c.-1998_-1997insTCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGA TGGGGGGCGGGGGAATCTGCAGAGATGGGGGCGGGGGAATCTGCAGAGAT GGGGGTCGGGGGAATCTGCAGAGGTGGGGGCGGGGGAATCTGCAGAGATG GGGCGACGGGGGAATCTGCAGAGATGGGGGGCGGGGGAATCTGCAGAGAT GGGGGGCGGGGGAGTCTGCAGAGATGGGGGGCGGGGGAG	KIF25	ENSG00000125337.21	transcript	ENST00000643607.3	protein_coding		199		chr6	TogoVar
KREMEN1_chr22_29068035_29151820	29120414	A A	AGGAAATG others(216): Show AGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGAGAGG TGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGG GAGAGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGG AGGGAGAGGTGATAATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAA CAGGGAGGAGGGAGAGGTGATGAT	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18979.hp2 NA19068.hp1 NA18973.hp2 NA18979.hp2 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0065 a0001c0001t0005 a0001c0001t0012 a0001c0001t0065	a0001c0001t0005g0325 a0001c0001t0012g0326 a0001c0001t0065g0322 a0001c0001t0005g0325 a0001c0001t0012g0326 a0001c0001t0065g0322	3	368	0.0082	223	c.353 others(238): Show c.353-938_353-937insTGGAGGAGGGAGAGGTGATGAAGGAAACAG GGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGATGG AAACAGGGAGGAGGGAGAGATGATGGAAACAGGGAGGAGGGAGAGGTGAT GAAGGAAATGGAGGAGGGAGAGGTGATAATGGAAACAGGGAGGAGGGAGA GGTGATGAAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(216): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCCCA CACCCCTCTCCTCCTCACACCACACAGCTCACACCCCTCTCCTCACACAC CACACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCC TCTCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACA CAGCTCACACCCCTCTCCTGCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0021 a0002c0021	a0002c0021t0001 a0002c0021t0001	a0002c0021t0001g0221 a0002c0021t0001g0221	1	308	0.0033	223	c.66 others(234): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCCCACACCCCTCTCCTCCTCACACCACACAGCTCACACC CCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACACACCA CACAGCTCACACCCCTCTCCTCCTCACACACCACACAGCTCACACCCCTC TCCTCACACACCACACAGCTCACACCCCTCTCCTGCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LMF1_chr16_848634_975984	955472	C C	CACACACA others(216): Show CACACACACACACACACATCTAAGTGAACCAGACACGTTACATAAAATGC GTGCCTGCAGCAGATGCGGTGTGTGCATACACACACACACATCTAAGTAA ACCAGACACGTTACATAAAATGCGTGCCTGCAGCAGACGTAGTGTGTGCA TCCACACACACACATCTAAGTAAACTAGACACGTTACATAAAATGCGTGC CCGCAGCAGAGACGGTGTGTGCGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00597.hp2 others(34): Show HG00099.hp1 HG00280.hp2 HG00597.hp2 HG00741.hp2 HG01071.hp1 HG01074.hp1 HG01258.hp2 HG01361.hp1 HG01517.hp1 HG01978.hp1 HG02129.hp1 HG02257.hp1 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02683.hp1 HG02818.hp2 HG02896.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp1 HG03239.hp1 HG03579.hp1 HG04204.hp1 HG04228.hp2 NA18906.hp1 NA18944.hp1 NA18952.hp2 NA18964.hp2 NA18970.hp2 NA18995.hp1 NA19012.hp1 NA19043.hp2 NA19068.hp2 NA20805.hp2	a0001 a0002 a0004 others(5): Show a0001 a0002 a0004 a0005 a0006 a0008 a0012 a0014	a0001c0001 a0001c0003 a0001c0005 others(15): Show a0001c0001 a0001c0003 a0001c0005 a0001c0010 a0001c0018 a0001c0023 a0001c0033 a0001c0060 a0002c0035 a0002c0052 a0004c0034 a0005c0025 a0006c0021 a0006c0048 a0006c0049 a0008c0036 a0012c0037 a0014c0062	a0001c0001t0001 a0001c0001t0019 a0001c0003t0001 others(17): Show a0001c0001t0001 a0001c0001t0019 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0001c0018t0001 a0001c0023t0001 a0001c0033t0001 a0001c0060t0002 a0002c0035t0001 a0002c0052t0001 a0004c0034t0015 a0005c0025t0007 a0006c0021t0001 a0006c0021t0006 a0006c0048t0006 a0006c0049t0001 a0008c0036t0003 a0012c0037t0005 a0014c0062t0008	a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 others(34): Show a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0019g0258 a0001c0003t0001g0124 a0001c0003t0001g0250 a0001c0005t0001g0248 a0001c0010t0001g0115 a0001c0010t0001g0271 a0001c0010t0001g0272 a0001c0010t0001g0273 a0001c0010t0001g0276 a0001c0010t0001g0279 a0001c0018t0001g0242 a0001c0023t0001g0246 a0001c0033t0001g0275 a0001c0060t0002g0128 a0002c0035t0001g0280 a0002c0052t0001g0018 a0004c0034t0015g0274 a0005c0025t0007g0259 a0005c0025t0007g0294 a0006c0021t0001g0020 a0006c0021t0006g0019 a0006c0048t0006g0108 a0006c0049t0001g0243 a0008c0036t0003g0277 a0012c0037t0005g0278 a0014c0062t0008g0212	37	294	0.1259	223	c.194 others(238): Show c.194-807_194-806insACGCACACACCGTCTCTGCTGCGGGCACGC ATTTTATGTAACGTGTCTAGTTTACTTAGATGTGTGTGTGTGGATGCACA CACTACGTCTGCTGCAGGCACGCATTTTATGTAACGTGTCTGGTTTACTT AGATGTGTGTGTGTGTATGCACACACCGCATCTGCTGCAGGCACGCATTT TATGTAACGTGTCTGGTTCACTTAGATGTGTGTGTGTGTGTGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	1/10			chr16	TogoVar
LMLN_chr3_197955217_198048720	198014926	G G	GTAGTCTG others(216): Show GTAGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTAACTAGTCTAACTTC TCTCCACCGTTCAGAGCCCGCTAACTAGTCTGACTTCTCTCCACCCTTCA GAGCCCCCTAACTAGTCTGACTTCTCTCCACCCTTCAGAGTCCCCTTAAC TAGTCTGACTTCTCTGTATCCTTCAGAGCCCCCTAACTAGTCTGACTTCT CTCCACTCTTCAGAGCCCCCTAAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00544.hp1 others(38): Show HG00140.hp2 HG00280.hp2 HG00544.hp1 HG00597.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp2 HG01070.hp1 HG01081.hp2 HG01123.hp2 HG01175.hp2 HG01346.hp2 HG01928.hp2 HG02040.hp1 HG02056.hp2 HG02145.hp1 HG02155.hp2 HG02738.hp1 HG02738.hp2 HG03239.hp1 HG03239.hp2 HG03688.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp1 NA18941.hp2 NA18943.hp2 NA18945.hp1 NA18950.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp2 NA18957.hp1 NA18979.hp1 NA18986.hp2 NA18992.hp1 NA18994.hp2 NA19000.hp1 NA19003.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(5): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0015 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0007t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0139 others(37): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0155 a0001c0001t0001g0163 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0183 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0008g0168 a0001c0001t0008g0173 a0001c0001t0008g0180 a0001c0001t0008g0181 a0001c0001t0008g0185 a0001c0001t0011g0204 a0001c0001t0011g0207 a0001c0001t0011g0208 a0001c0001t0011g0209 a0001c0001t0011g0214 a0001c0001t0015g0172 a0001c0001t0036g0135 a0001c0001t0037g0200 a0001c0001t0038g0002 a0001c0007t0001g0144	41	258	0.1589	223	c.132 others(242): Show c.1320-4284_1320-4283insAACTTCTCTCCACCGTTCAGAGCCCG CTAACTAGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTAACTAGTCTGA CTTCTCTCCACCCTTCAGAGTCCCCTTAACTAGTCTGACTTCTCTGTATC CTTCAGAGCCCCCTAACTAGTCTGACTTCTCTCCACTCTTCAGAGCCCCC TAACTAGTCTGACTTCTCTCCACCCTTCAGAGCCCCCTAACTAGTCT	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC27_chr10_132327193_132386508	132358873	C C	CGTGGGGA others(216): Show CGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGG TGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAGTGTGGGGAGGAGC CAAGGTGGTGGAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGA GGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTAGAGCAG TGTGGGGAGGAGCCAAGGTGGTGG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0133 a0001c0001t0046g0133	1	290	0.0035	223	c.117 others(242): Show c.1171-2584_1171-2583insGTGGGGAGGAGCCGAGGTGGTGGAGC AGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGT GGTAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGGAGTGTGGGGAGGAGCC GAGGTGGTGGAGCAGTGTGGGGAGGAGCCGAGGTGGTGGAGCAGTGTGGG GAGGAGCCGAGGTGGTAGAGCAGTGTGGGGAGGAGCCAAGGTGGTGG	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10			chr10	TogoVar
LRRC27_chr10_132327193_132386508	132358931	C C	CGTGGGAA others(216): Show CGTGGGAAGGAGCCGAGGTGGTGGAGCAGCGTGGGGAGGTGCTGAGGTGG TGGAGCAGCGTGGGGAGGTGCTGAGGTGATGGAGCAGCGTAGGGAGGAGC CGAGGTGGTGGAGCGTGGGAAGGAGCCGAGGTGGTGGAGCAGCGTGGGGA GGTGCTGAGGTGGTGGAGCAGCGTGGGGAGGTGCTGAGGTGATGGAGCAG CGTAGGGAGGAGCCGAGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02896.hp2 HG02895.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0002 a0001c0001t0009g0002	2	290	0.0069	223	c.117 others(242): Show c.1171-2526_1171-2525insGTGGGAAGGAGCCGAGGTGGTGGAGC AGCGTGGGGAGGTGCTGAGGTGGTGGAGCAGCGTGGGGAGGTGCTGAGGT GATGGAGCAGCGTAGGGAGGAGCCGAGGTGGTGGAGCGTGGGAAGGAGCC GAGGTGGTGGAGCAGCGTGGGGAGGTGCTGAGGTGGTGGAGCAGCGTGGG GAGGTGCTGAGGTGATGGAGCAGCGTAGGGAGGAGCCGAGGTGGTGG	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	8/10			chr10	TogoVar
LYAR_chr4_4262701_4295154	4263813	A A	ACTAACTT others(216): Show ACTAACTTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCCTTTCC TTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCC TTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCTTTCCTTTCT TTCCTTTCTTTCCTTTCTTTCTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	436	0.0023	223	c.40 others(234): Show c.4075_*4076insAAAGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAA GAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAG GAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGGAAAGGAAA GGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAAGAAAGGAAA GAAAGGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGTTAG	LYAR	ENSG00000145220.14	transcript	ENST00000343470.9	protein_coding		3887		chr4	TogoVar
MAD1L1_chr7_1810795_2237945	1940933	C C	CCCCAGGC others(216): Show CCCCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCT TCCTCTCCCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGCCTCACCCT CCTCTTCCTCCCCCCGCAGGCCTCACCCTCCTCTTCCTCCCCCCGCAGGC CTCACCCTCCTCTTCCTCTCCCAGGCCTCAGCCTCCTCTTCCTCCCCCCG CAGGCCTCACCCTCCTCTTCCTCT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0248 a0001c0001t0001g0248	1	264	0.0038	223	c.159 others(242): Show c.1597-4037_1597-4036insAGAGGAAGAGGAGGGTGAGGCCTGCG GGGGGAGGAAGAGGAGGCTGAGGCCTGGGAGAGGAAGAGGAGGGTGAGGC CTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAG GGTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGGGAGAGGAAG AGGAGGGTGAGGCCTGCGGGGGGAGGAAGAGGAGGGTGAGGCCTGGG	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	16/18			chr7	TogoVar
MAGI3_chr1_113385515_113690923	113416469	T T	TTAATTTT others(216): Show TTAATTTTATATATTAATTCTATATAGTTAATTATATATTAATTACAGTT AATATATATTAATATATAACTATATATTAATTATATATATTAATATATAA CTATATATTAATTATATATATTAATATATATTAATATATATTAATATATA TATTAATATATATTAATTATATATATTAATTATATATATTAATATATATT AATTAATTATATATATTTATATAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	236	0.0042	223	c.316 others(242): Show c.316+25121_316+25122insAATTTTATATATTAATTCTATATAGT TAATTATATATTAATTACAGTTAATATATATTAATATATAACTATATATT AATTATATATATTAATATATAACTATATATTAATTATATATATTAATATA TATTAATATATATTAATATATATATTAATATATATTAATTATATATATTA ATTATATATATTAATATATATTAATTAATTATATATATTTATATAGT	MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAML3_chr4_139711753_140159184	140019098	T T	TTTTTTTT others(216): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTG TCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCG CCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGG ACTACAGGCGCCCGCCACCTCGCCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTGTTAGCC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0002 a0004c0005t0002	a0004c0005t0002g0100 a0004c0005t0002g0100	1	152	0.0066	223	c.469 others(244): Show c.469-128132_469-128131insGGCTAACACGGTGAAACCCCGTCT CTACTAAAAATACAAAAAATTAGCCGGGCGAGGTGGCGGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGG CGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGA CAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4			chr4	TogoVar
MAN2B2_chr4_6570189_6628362	6579126	C C	CCACCACC others(216): Show CCACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCAC CATCACCACCACCATCACCATCACCACCACCATCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCACCATCACCACCATCACCACC ACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCAC CACCATCACCACCACCATCACCAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0061 a0001c0003t0002g0061	1	362	0.0028	223	c.391 others(238): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCATCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCATCACCACCAC CACCACCATCACCACCACCACCACCACCACCACCACCACCATCACCACCA TCACCACCACCACCATCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCACCATCACCATCACCACCACCA	MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19477854	A A	AGGGGGGA others(216): Show AGGGGGGAGGGGGGAGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGA GGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGGGGGGGG AGAGGGGGGAGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAG GGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGG GGAGAGGGGGGAGGGGGGAGAGGG	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0120 a0005c0012t0001g0120	1	163	0.0061	223	c.525 others(240): Show c.525+8627_525+8628insCCCTCTCCCCCCTCCCCCCTCTCCCCCC CTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCT CCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCTCCCCCCTCTCCCC CCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTC CCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCTCCCCCCTCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar

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