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
GUCY1A2_chr11_106669019_107023476	106787587	A A	AGGAAGGG others(274): Show AGGAAGGGGAGGGTGAGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGAGG AGGGAAGGGGGAGGGGGGAGGAGGGAAGGGGGAGGGGGGAGGGGGAAGGG AAGGGAGGGAAGGGAAGGGTGGGAGGGGAGGGGGGAGCGGAAGGGAAGGG TCAGAGGGGAGGGGGAGGGGGAGGGAGAGAGGGAGGAGAGAGGGAGGGGA AAGGGAGGGGAAGGGAAGGGTGAGAAGGGAAGGGGAGGGGAGGGGTGGGG AAAAGGGAGGGGAAGGGCAGGGGAAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG06807.hp1 NA18906.hp2 HG01255.hp1 HG06807.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0019 a0001c0003t0018 a0001c0001t0019 a0001c0003t0018	a0001c0001t0019g0086 a0001c0003t0018g0251 a0001c0003t0018g0252 a0001c0001t0019g0086 a0001c0003t0018g0251 a0001c0003t0018g0252	3	256	0.0117	281	c.169 others(302): Show c.1693-11006_1693-11005insCCTCCCCTTCCCCTGCCCTTCCCC TCCCTTTTCCCCACCCCTCCCCTCCCCTTCCCTTCTCACCCTTCCCTTCC CCTCCCTTTCCCCTCCCTCTCTCCTCCCTCTCTCCCTCCCCCTCCCCCTC CCCTCTGACCCTTCCCTTCCGCTCCCCCCTCCCCTCCCACCCTTCCCTTC CCTCCCTTCCCTTCCCCCTCCCCCCTCCCCCTTCCCTCCTCCCCCCTCCC CCTTCCCTCCTCCCCCCTCCCCCTTCCCTCCTCCCCCCTCCCTCACCCTC CCCTTCC	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding	5/7			chr11	TogoVar
GUCY1A2_chr11_106669019_107023476	107022930	T T	TAAAATCA others(274): Show TAAAATCACAATGTGACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCT ACTCGGGAGGCTGAGGCAGGAGAACAGCGTGAACCCGGGAGGCGGAGCTT GCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0034 a0001c0001t0010g0035 a0001c0001t0010g0034 a0001c0001t0010g0035	2	256	0.0078	281	c.-48 others(292): Show c.-4876_-4875insTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCTGTTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT AGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGA CCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTCACATTGTGATTTT	GUCY1A2	ENSG00000152402.11	transcript	ENST00000526355.7	protein_coding		4455		chr11	TogoVar
HDLBP_chr2_241222291_241320672	241264041	T T	TAAGAAAG others(274): Show TAAGAAAGAACAGCGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	354	0.0028	281	c.234 others(296): Show c.234+406_234+407insTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGTCGGACTGCGGACTGCAGTGGCGCAATCTCGG CTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTC GATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCGCTGTTCTTTCT T	HDLBP	ENSG00000115677.18	transcript	ENST00000310931.10	protein_coding	4/27			chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33322442	A A	AATATATA others(274): Show AATATATATATGGAATATATACATGGAATATATACATGGAATATATACAT GGAATATATACATGGAACATATATATATGGAACATATACGGAATATATAT ATGGAATATATATACGGAATATATATATATGGAATATATATACGGAATAT ATATATGGAATATATATACGGTATATATATATGGAATATATATACGGAAT ATATATATGGAATATATATATGGAATATGTATATGGAATATATATATATG GAATATATATATATGGAATATATATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	323	0.0031	281	c.-26 others(292): Show c.-2614_-2613insATATATATATGGAATATATACATGGAATATATAC ATGGAATATATACATGGAATATATACATGGAACATATATATATGGAACAT ATACGGAATATATATATGGAATATATATACGGAATATATATATATGGAAT ATATATACGGAATATATATATGGAATATATATACGGTATATATATATGGA ATATATATACGGAATATATATATGGAATATATATATGGAATATGTATATG GAATATATATATATGGAATATATATATATGGAATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		2527		chr21	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(274): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0003 a0003c0005t0003	a0003c0005t0003g0033 a0003c0005t0003g0033	1	282	0.0036	281	c.623 others(298): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGG GGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(274): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCAGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGT GGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCTGGAGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTC TGGAGGGGAGGCGGGGCTCGGGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03704.hp1 NA18942.hp2 others(1): Show HG02897.hp2 HG03704.hp1 NA18942.hp2 NA18947.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0013	a0001c0003 a0002c0001 a0005c0012 others(1): Show a0001c0003 a0002c0001 a0005c0012 a0013c0063	a0001c0003t0002 a0002c0001t0002 a0005c0012t0004 others(1): Show a0001c0003t0002 a0002c0001t0002 a0005c0012t0004 a0013c0063t0027	a0001c0003t0002g0219 a0002c0001t0002g0047 a0005c0012t0004g0065 others(1): Show a0001c0003t0002g0219 a0002c0001t0002g0047 a0005c0012t0004g0065 a0013c0063t0027g0272	4	282	0.0142	281	c.623 others(298): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCAGGGGGGAGGCAGGG CTGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCG GGGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGG GAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTC GGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGGGGAGGCGG GGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IQSEC3_chr12_61767_183455	103862	C C	CGGGGCTC others(274): Show CGGGGCTCGGGGGGTAGGTGGGGGCTCAGGAGGGGAGGTGGGACTCAGGA GGGAGAGGTGGAGTTCGGGGGGAGGCAGGGCTGGGGGGAGGCGGGGCTCT GGAGGGGAGGCGGGGCTCAGGGGGGAGGCGGGGCTCAGGAGGGAGAGGTG GAGTTCGGTGGGGAGGCAGGGCTCAGGGGGGAGGCGGGGCTCAGGGGGGA GGCGGGGCTCGGGAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCTG GAGGGGAGGCGGGGCTCGGGAGGGGAGGCGGG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0101 a0001c0003t0001g0101	1	282	0.0036	281	c.623 others(298): Show c.623+4650_623+4651insGGCTCGGGGGGTAGGTGGGGGCTCAGGA GGGGAGGTGGGACTCAGGAGGGAGAGGTGGAGTTCGGGGGGAGGCAGGGC TGGGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCAGGGGGGAGGCGG GGCTCAGGAGGGAGAGGTGGAGTTCGGTGGGGAGGCAGGGCTCAGGGGGG AGGCGGGGCTCAGGGGGGAGGCGGGGCTCGGGAGGGGAGGCGGGGCTCTG GAGGGGAGGCGGGGCTCTGGAGGGGAGGCGGGGCTCGGGAGGGGAGGCGG GGG	IQSEC3	ENSG00000120645.12	transcript	ENST00000538872.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(274): Show AATATATATATCATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATGAAATATATATATGATATAT GAAATATATATATGATATATGAAATATATATATGATATATATATGAAATA TATATATGATATATATATGAAATATATATATGATATATATATGAAATATA TATATGATATATATATGAAATATATATATGAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	344	0.0029	281	c.25- others(296): Show c.25-1970_25-1969insATCATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATATGATATATGAAATATATATATGATATATGAAATATATATATGATATA TATATGAAATATATATATGATATATATATGAAATATATATATGATATATA TATGAAATATATATATGATATATATATGAAATATATATATGATATATATA T	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAG2_chr12_25047706_25113335	25077266	A A	AATATATA others(274): Show AATATATATATGATATATATATGAAATATATATATGATATATATATGAAA TATATATATCATATATATATGAAATATATATATGATATATGAAATATATA TATGATATATGAAATATATATATGATATATGAAATATATATATGATATAT GAAATATATATATGATATATGAAATATATATATGATATATATATGAAATA TATATATGATATATATATGAAATATATATATGATATATATATGAAATATA TATATGATATATATATGAAATATATATATGAT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18989.hp1 NA18947.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0132 a0001c0001t0001g0133	2	344	0.0058	281	c.25- others(296): Show c.25-1970_25-1969insATGATATATATATGAAATATATATATGATA TATATATGAAATATATATATCATATATATATGAAATATATATATGATATA TGAAATATATATATGATATATGAAATATATATATGATATATGAAATATAT ATATGATATATGAAATATATATATGATATATGAAATATATATATGATATA TATATGAAATATATATATGATATATATATGAAATATATATATGATATATA TATGAAATATATATATGATATATATATGAAATATATATATGATATATATA T	IRAG2	ENSG00000118308.16	transcript	ENST00000556887.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
IRAK2_chr3_10159919_10248745	10224736	C C	CCATCCAC others(274): Show CCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACCC ATCCATCCACCCACCCACCTGTCCACCCATCCATCCACCCACCCACCCAC CCACCATCCAATCCACCCACCCACCCCATCCATCCACCCACCCACCCACC CATCCATCCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCA TCCATCCACCCACCCACCTGTCCACCCATGTACCCACCCTCCCACCAACC CACCCACCCATCCATTTATCCACCTACCCACA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0168 a0002c0002t0001g0168	1	292	0.0034	281	c.121 others(300): Show c.1210-1629_1210-1628insCCCACCCACCCACCCATCCATCCACC CACCCACCTGTCCACCCATCCATCCACCCACCCACCTGTCCACCCATCCA TCCACCCACCCACCCACCCACCATCCAATCCACCCACCCACCCCATCCAT CCACCCACCCACCCACCCATCCATCCACCCACCCACCCACCCATCCATCC ACCCACCCACCCACCCATCCATCCACCCACCCACCTGTCCACCCATGTAC CCACCCTCCCACCAACCCACCCACCCATCCATTTATCCACCTACCCACAC ATCCA	IRAK2	ENSG00000134070.5	transcript	ENST00000256458.5	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr3	TogoVar
KCNMB2_chr3_178531436_178849429	178758776	T T	TATATATA others(274): Show TATATATATCTCCTCTAGGAGAGATATATATATATATATATATATCTCCA AGAGGAGATATATATATATATATATATATCTCCTCTAGGAGATATATATA TATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATA TATATATCTCCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATA TATATATATCTCCAAGAGGAGATATATATATATATATATATCTCCAAGAG GAGATATATATATATATATATCTCCAAGAGGG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18971.hp1 NA18968.hp2 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0032 a0001c0002t0001g0033	2	232	0.0086	281	c.-67 others(300): Show c.-67-48559_-67-48558insCTCCTCTAGGAGAGATATATATATAT ATATATATATCTCCAAGAGGAGATATATATATATATATATATATCTCCTC TAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCTCC AAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATATCT CCAAGAGGAGATATATATATATATCTCCAAGAGGAGATATATATATATAT ATATATCTCCAAGAGGAGATATATATATATATATATCTCCAAGAGGGATA TATAT	KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr3	TogoVar
KPNA1_chr3_122416902_122519939	122439505	C C	CAAAAGAG others(274): Show CAAAAGAGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp2 NA18984.hp2 HG02071.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0337 a0001c0001t0003g0341 a0001c0001t0003g0337 a0001c0001t0003g0341	2	400	0.0050	281	c.997 others(298): Show c.997-2211_997-2210insTTTTTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGAACTCT TTT	KPNA1	ENSG00000114030.13	transcript	ENST00000344337.11	protein_coding	10/13			chr3	TogoVar
KREMEN1_chr22_29068035_29151820	29120082	A A	AACAGGGA others(274): Show AACAGGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGAT GATGGAAACAGGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAGGGA GAGGTGATGATGGAAATGGAGGAGGGAGAGGTGATGAAGGAAATGGAGGA GGGAGAGGTGATGAAGGAAACAGGGAGGAGGAGAGGTGATGATGGAAATG GAGGAAGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATGAAG GAAATGGAGGAGGGAGAGGTGATGAAGGAAAC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0323 a0001c0001t0041g0323	1	368	0.0027	281	c.353 others(298): Show c.353-1274_353-1273insCAGGGAGGAGGGAGAGGTGATGAAGGAA ATGGAGGAGGGAGAGGTGATGATGGAAACAGGGAGGAGGGAGAGGTGATG AAGGAAACAGGGAGGAGGGAGAGGTGATGATGGAAATGGAGGAGGGAGAG GTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAAACAGGGAGGAG GAGAGGTGATGATGGAAATGGAGGAAGGAGAGGTGATGATGGAAACAGGG AGGAGGGAGAGGTGATGAAGGAAATGGAGGAGGGAGAGGTGATGAAGGAA ACA	KREMEN1	ENSG00000183762.13	transcript	ENST00000400335.9	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
LAMA5_chr20_62304065_62372312	62360489	T T	TGGGTGGA others(274): Show TGGGTGGAGGGATAGATGGGTGGGTGGGTAGAAGGATAGGTAGGTGGGTG GGTGGGTGGATGGATAGGTGGGTGGGTGGGTGGAGGAATAGATGGGTGGG TGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGAGGGATA GATGGGTGGGTGGATGGGTGGGTGGAGGGATAGATGGGTGGGTGGATGGG TGGGTGGAGGGATAGATGGGTGGGTGGGTGGGTGGGTGGAGGGATAGATG GGTGGGTGGGTGGGTGGGTGGATGGATAGGTG	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0062 a0062	a0062c0130 a0062c0130	a0062c0130t0005 a0062c0130t0005	a0062c0130t0005g0079 a0062c0130t0005g0079	1	186	0.0054	281	c.450 others(298): Show c.450+1910_450+1911insCACCTATCCATCCACCCACCCACCCACC CACCCATCTATCCCTCCACCCACCCACCCACCCACCCATCTATCCCTCCA CCCACCCATCCACCCACCCATCTATCCCTCCACCCACCCATCCACCCACC CATCTATCCCTCCACCCACCCACCCACCCATCTATCCCTCCACCCACCCA TCCACCCACCCATCTATTCCTCCACCCACCCACCCACCTATCCATCCACC CACCCACCCACCTACCTATCCTTCTACCCACCCACCCATCTATCCCTCCA CCC	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79			chr20	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(274): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCCTCACAC ACCACACAGCCCACACCCCTCCTCACACACCACACAGCTCACACCCCTCT CCTGCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACACCACA CAGCCCACACCCCTCTCCTCCTCACACCACAGAGCCCACACCCCTCTCCT CACACACCACACAGCTCACATCCCTCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0263 a0001c0003t0003g0263	1	308	0.0033	281	c.66 others(292): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCC CTCTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACACCACAC AGCTCACACCCCTCTCCTGCTCACACACCACACAGCCCACACCCCTCTCC TCCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGC CCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LDLRAD4_chr18_13213760_13657751	13494661	G G	GAGTGAGA others(274): Show GAGTGAGACTCCATCTCCACTAAAATATATATATATAAAATATTATATTT ATATATTATATATATAATATATATATAATATTATTTTATATATATTATAT ATAATATTATATTATATATATTAATTATATATTACAATTATATATATGTA ATTAAAATATTACAATCATTTAGTAATTCATTGATAAAGCCTTCATCCTG GGAGGCGCTAGGGGCACCCAAACTTCCTTAATTCCCACTGTGTCATTTAT TCAATGTGTATGTGTATATATACACTGAATAT	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	178	0.0056	281	c.181 others(300): Show c.181+56278_181+56279insGTGAGACTCCATCTCCACTAAAATAT ATATATATAAAATATTATATTTATATATTATATATATAATATATATATAA TATTATTTTATATATATTATATATAATATTATATTATATATATTAATTAT ATATTACAATTATATATATGTAATTAAAATATTACAATCATTTAGTAATT CATTGATAAAGCCTTCATCCTGGGAGGCGCTAGGGGCACCCAAACTTCCT TAATTCCCACTGTGTCATTTATTCAATGTGTATGTGTATATATACACTGA ATATA	LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	858471	G G	GACTGGTG others(274): Show GACTGGTGTCACGGGACGGGTGTGACTGGTGTCACGGGACGGGTGTGCAG TGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGAGTGGT GTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTC TCGGGACGGGTGTGCAGTGGTGTCACGGGACGGGTGTGCAGTGGTGTCAC GGGACGCGTGTGCAGTGGTGTCACGGGACGCGTGTGCAGTGGTGTCACGG GACGGGTGTGAGTGGTGTCACGGGACGGGTGT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0176 a0001c0003t0001g0176	1	294	0.0034	281	c.153 others(300): Show c.1530-3766_1530-3765insACACCCGTCCCGTGACACCACTCACA CCCGTCCCGTGACACCACTGCACACGCGTCCCGTGACACCACTGCACACG CGTCCCGTGACACCACTGCACACCCGTCCCGTGACACCACTGCACACCCG TCCCGAGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCC CGTGACACCACTCACACCCGTCCCGAGACACCACTCACACCCGTCCCGTG ACACCACTGCACACCCGTCCCGTGACACCAGTCACACCCGTCCCGTGACA CCAGT	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LMF1_chr16_848634_975984	858822	G G	GCGTGGTG others(274): Show GCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGACGGGTGTGCA GTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGCAGTG GTGTCTCGGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGT CTCGGGATGGGTGTGCAGTGGTGTCTCGGGATGGGTGTGAGTGGTGTCTC GGGATGGGTGTGAGTGGTGTCACGGGATGGGTGTGAGTGGTGTCTCGGGA TGGGTGTGAGTGGTGTCACGGGATGGGTGTGC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0019 a0019	a0019c0070 a0019c0070	a0019c0070t0001 a0019c0070t0001	a0019c0070t0001g0140 a0019c0070t0001g0140	1	294	0.0034	281	c.153 others(300): Show c.1530-4117_1530-4116insGCACACCCATCCCGTGACACCACTCA CACCCATCCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACC CATCCCGAGACACCACTCACACCCATCCCGAGACACCACTGCACACCCAT CCCGAGACACCACTCACACCCATCCCGTGACACCACTCACACCCATCCCG AGACACCACTGCACACCCGTCCCGAGACACCACTCACACCCGTCCCGAGA CACCACTGCACACCCGTCCCGAGACACCACTGCACACCCGTCCCGAGACA CCACG	LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10			chr16	TogoVar
LOC114841035_chr11_64236095_64249132	64237126	G G	GAGAGAGG others(274): Show GAGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGAGAGGAGAGGGAGAGGGAGAGGGAG AGGAGAGGAGAGGGAGAGGAGAGGGAGAGGGAGAGGGAGAGGAGAGAGGG AGAGGCGAGGAGGGGAGAGGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGACAGA CAGAGACAGACAGAGACAGACAGAGACAGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	281	c.-41 others(292): Show c.-4154_-4153insAGAGAGGGGAGAGGGAGAGGGAGAGGGAGAGGGA GAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGAGAGGAGAGG GAGAGGGAGAGGGAGAGGAGAGGAGAGGGAGAGGAGAGGGAGAGGGAGAG GGAGAGGAGAGAGGGAGAGGCGAGGAGGGGAGAGGGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGACAGACAGAGACAGACAGAGACAGACAGAGACAGACA	LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding		3968		chr11	TogoVar
LRRC24_chr8_144517388_144532033	144531174	T T	TGAAGGGC others(274): Show TGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGC AGGCACGGCAGAAAGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGACATA GCAGGCACGGCAGAAGGGCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACA TAGCAGGCACGGCAGAAGGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTG GGCTAGACATAGCAGGCACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGG TGGGGAGTGGGCTAGACATAGCAGGCACGGCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	281	c.-42 others(292): Show c.-4275_-4274insTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACC TGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGTCTAGCCCA CTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATG TCTAGCCCACTCCCCACCTGCTGCTTGCTGCCCTTCTGCCGTGCCTGCTA TGTCTAGCCCACTCCCCACCTGCTGCTCGCTGCCTTTCTGCCGTGCCTGC TATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4142		chr8	TogoVar
LRRC24_chr8_144517388_144532033	144531191	A A	AGAGCAGC others(274): Show AGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAAGGC AGCGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAAGG GCAGCAAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGCACGGCAGAA GGGCACAGGGCAGGGAGCAGCAGGTGGGGAGTGGGCTAGACATAGCAGGC ACGGCAGAAGGGCACAGGGCAGCGAGCAGCAGGTGGGGAGTGGGCTAGAC ATAGCAGGCACGGCAGAAGGGCACAGGGCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	398	0.0025	281	c.-42 others(292): Show c.-4292_-4291insGCTGCCCTGTGCCCTTCTGCCGTGCCTGCTATGT CTAGCCCACTCCCCACCTGCTGCTCGCTGCCCTGTGCCCTTCTGCCGTGC CTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCCCTGCCCTGTGCCCTT CTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTTGCTGCCC TTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTCGCTGC CTTTCTGCCGTGCCTGCTATGTCTAGCCCACTCCCCACCTGCTGCTC	LRRC24	ENSG00000254402.7	transcript	ENST00000529415.7	protein_coding		4159		chr8	TogoVar
LRRC27_chr10_132327193_132386508	132364346	A A	ACATCTAC others(274): Show ACATCTACCTCCACACCCGCGCTTACACCCACGCTTACATCTACCTCCAC ACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTACCTCC ACACCCACGCTTACACCCACCCACACTTACACCCACGCTTACATCTACCT CCACACCCGCACTTACACCCACCCTTACATCTACCTCCACACCCGCGCTT ACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACGCTTAC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0068 a0001c0001t0039g0068	1	290	0.0035	281	c.129 others(300): Show c.1290-1078_1290-1077insCATCTACCTCCACACCCGCGCTTACA CCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTA CACCCACGCTTACATCTACCTCCACACCCACGCTTACACCCACCCACACT TACACCCACGCTTACATCTACCTCCACACCCGCACTTACACCCACCCTTA CATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCACCCT TACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACG CTTAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
LRRC27_chr10_132327193_132386508	132364346	A A	ACATCTAC others(274): Show ACATCTACCTCCACGCCCACACTTACACCCACGCTTACATCTACCTCCAC ACCCACACTTACACCCACACTTACATCTACCTCCACGCCCACACTTACAC CCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTCAC ACCCACCCACACTTACACCCACGCTTACATCTACCTCCACGCCCACACTC ACACCCACCCACACTTACACCCACGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCTTAC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0019 a0001c0001t0054g0019	1	290	0.0035	281	c.129 others(300): Show c.1290-1078_1290-1077insCATCTACCTCCACGCCCACACTTACA CCCACGCTTACATCTACCTCCACACCCACACTTACACCCACACTTACATC TACCTCCACGCCCACACTTACACCCACCCACACTTACACCCACGCTTACA TCTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACGCTTA CATCTACCTCCACGCCCACACTCACACCCACCCACACTTACACCCACGCT TACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACC CTTAC	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10			chr10	TogoVar
LRRC74A_chr14_76821408_76875304	76867164	G G	GGTGTGTG others(274): Show GGTGTGTGTGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGT GGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGTTGGGGGGTGGGGTG TGTGTGTGTGTGGTAGTGTGTGTGGGTGTGTGTGTGTGTTGGGGGGTGGG GTGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTGGGTGTGTTGGGGGG TGGGGTGTGTGTGTGGGGGGGGGTGTGTTGGGGGATGGGGTGTGTGTGTG GTAGTGTGGGGGGGTGTGTGTTTTGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0179 a0001c0004t0001g0179	1	408	0.0025	281	c.130 others(298): Show c.1309-185_1309-184insTGTTGGGGGGTGGGGTGTGTGTGTGTGT GGTAGTGTGTGTGTGGGTGTGTGTGTGTTGGGGGGGTGGGGTGTGTGTGT TGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGTGTGTGTGTG TGTTGGGGGGTGGGGTGTGTGTGTGTGTGGTAGTGTGTGTGGGGTGTGTG GGTGTGTTGGGGGGTGGGGTGTGTGTGTGGGGGGGGGTGTGTTGGGGGAT GGGGTGTGTGTGTGGTAGTGTGGGGGGGTGTGTGTTTTGGGGGGGTGTGT GTG	LRRC74A	ENSG00000100565.16	transcript	ENST00000689127.1	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
LUC7L_chr16_183990_234449	186374	G G	GGAGGAAC others(274): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGAC ACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAA CAGCGACACGGGGAGGAACAGCGACACGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0333 a0001c0001t0001g0333	1	350	0.0029	281	c.28 others(292): Show c.2823_*2824insTCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTT CCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGT CGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2615		chr16	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCCCCCC others(274): Show ACCCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCT CCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGG ACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGA TGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGA CGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGAT GGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0001 a0013c0019t0001	a0013c0019t0001g0085 a0013c0019t0001g0085	1	246	0.0041	281	c.171 others(298): Show c.171+3411_171+3412insCGCCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCCC ACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCCA CCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCCCCCC CCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACO1_chr1_25425897_25505209	25457426	T T	TAAAATAT others(274): Show TAAAATATATATTCTCTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCA GGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAA AATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTA CTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTG CAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCAACA GAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	282	0.0036	281	c.652 others(296): Show c.652+610_652+611insTTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGC AACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAATATATATTCT C	MACO1	ENSG00000204178.11	transcript	ENST00000374343.5	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP3K14_chr17_45258119_45322020	45306333	T T	TAAAAATT others(274): Show TAAAAATTGGGACCGACAGGAGATCGAGACCATCCTGGCTAACAAGGTGA AACCCCGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGCGGTGGCGGG CGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAA CCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGC AGTCCGACCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0257 a0001c0001t0001g0257	1	336	0.0030	281	c.-21 others(300): Show c.-21+10626_-21+10627insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGT CGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCGCGCCTGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGTCGGTCCCAA TTTTT	MAP3K14	ENSG00000006062.18	transcript	ENST00000344686.8	protein_coding	1/15			chr17	TogoVar
MARCHF1_chr4_163519718_164389019	164112985	T T	TAAACAAT others(274): Show TAAACAATTGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG02451.hp2 others(4): Show HG01109.hp2 HG02258.hp1 HG02451.hp2 HG02615.hp2 HG03041.hp1 HG03486.hp2 HG03516.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0013 a0001c0001t0022 a0002c0004t0029	a0001c0001t0005g0074 a0001c0001t0006g0053 a0001c0001t0006g0098 others(4): Show a0001c0001t0005g0074 a0001c0001t0006g0053 a0001c0001t0006g0098 a0001c0001t0007g0051 a0001c0001t0013g0015 a0001c0001t0022g0040 a0002c0004t0029g0047	7	102	0.0686	281	c.-32 others(300): Show c.-322-1324_-322-1323insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCAAT TGTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
MARCHF1_chr4_163519718_164389019	164112985	T T	TAAACAAT others(274): Show TAAACAATTGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATGGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGCAGTCCCAGC TACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCT TGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0067 a0001c0001t0019g0067	1	102	0.0098	281	c.-32 others(300): Show c.-322-1324_-322-1323insTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTGCAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCCATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCAAT TGTTT	MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	1/9			chr4	TogoVar
METTL22_chr16_8616698_8654654	8640836	G G	GGATGGAT others(274): Show GGATGGATAGAAGGAAGGGCCGGAAGATGGGCAGGTGGGTGGGGTGGGTG GTTGGGTGGGTGGGTAGATGGATGGATGGATAGAAGGAAGGGCCGGAAGA TGGGCAGGTGGGTGGGTGGGTGGTTGGGTGGGTGGGTAGATGGATGGATG GATAGAAGGAAGGGCCGGAAGATGGGCAGGTGGGTGGGTGGGTGGGTGGG TGGGTGGGTAGATGGATGGATGGATAGAAGGAAGGGCCGGAAGATGGGCA GGTGGGTGGGTGGGTGGGTGGGTGGGTGGGTA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0008 a0008	a0008c0018 a0008c0018	a0008c0018t0001 a0008c0018t0001	a0008c0018t0001g0180 a0008c0018t0001g0180	1	390	0.0026	281	c.773 others(296): Show c.773-288_773-287insAGAAGGAAGGGCCGGAAGATGGGCAGGTGG GTGGGGTGGGTGGTTGGGTGGGTGGGTAGATGGATGGATGGATAGAAGGA AGGGCCGGAAGATGGGCAGGTGGGTGGGTGGGTGGTTGGGTGGGTGGGTA GATGGATGGATGGATAGAAGGAAGGGCCGGAAGATGGGCAGGTGGGTGGG TGGGTGGGTGGGTGGGTGGGTAGATGGATGGATGGATAGAAGGAAGGGCC GGAAGATGGGCAGGTGGGTGGGTGGGTGGGTGGGTGGGTGGGTAGATGGA T	METTL22	ENSG00000067365.15	transcript	ENST00000381920.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
MID2_chrX_107820866_107936637	107910834	T T	TTCCTTTC others(274): Show TTCCTTTCCTTTCCTTTCCTTTCCTTCCTTTCCTTTCCTTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCCTTTCCTTTCCCTTTCCTTTCCTTTCCTTTCCTTTCTTT CCTTTCCTTTTCCTTTCCTTTCCTTTCCTTTCCTTCCATTTCCTTTCCTT TCCTTTCCTTTCCTTTCCTTTCCTTTCTTTCC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	181	0.0055	281	c.107 others(300): Show c.1074-5167_1074-5166insCCTTTCCTTTCCTTTCCTTTCCTTCC TTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCCTTTCC TTTCCTTTCCTTTCCTTTCTTTCCTTTCCTTTTCCTTTCCTTTCCTTTCC TTTCCTTCCATTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCCTTTCT TTCCT	MID2	ENSG00000080561.14	transcript	ENST00000262843.11	protein_coding	5/9		INFO_REALIGN_3_PRIME	chrX	TogoVar
MLLT3_chr9_20336669_20627499	20564340	T T	TAGAAAAG others(274): Show TAGAAAAGAGATGGCTCCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCATCCCGGCTAAAATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCAGTGGTGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18956.hp2 NA18956.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0034 a0001c0001t0021g0034	1	186	0.0054	281	c.193 others(300): Show c.193+56313_193+56314insTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCACCACTGCGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGGAGCCATCTCT TTTCT	MLLT3	ENSG00000171843.17	transcript	ENST00000380338.9	protein_coding	2/10			chr9	TogoVar
MRPL1_chr4_77857830_77957785	77916327	T T	TAAGAAAC others(274): Show TAAGAAACACTAGACACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTC AGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAA AAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCT ACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTT GCAGTAAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	1	302	0.0033	281	c.777 others(298): Show c.777+6968_777+6969insCACTTTGGGAGGCCGAGGCGGGCGGATC ACGAGGTCAGGAGATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTC TCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAG TCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGG CGGAGCTTGCAGTAAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGA CAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAAACACT AGA	MRPL1	ENSG00000169288.18	transcript	ENST00000315567.13	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
MSLN_chr16_755734_773862	767752	G G	GCGCGTGG others(274): Show GCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGA GGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGC GTGGAGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGG GTGTGGAGGGGGGCGCATGGGGGTGCGTGGGGGGGGCGCGTGGAGGGGGG GCGTGTGGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTGGAG GGGGGGCGCGTGGAGGGGGCACGTGGAGGGGT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0324 a0002c0002t0002g0324	1	388	0.0026	281	c.159 others(298): Show c.1596+292_1596+293insGGGCACGTGGAGGGGTCGCGTGGAGGAG GGGCGCGTGGAGGGGGCGCGTGGAGGAGGAGGGGCGCATGGGGGGGTGTG GAGGGGGGCGCGTGGAGGGGGCGCGTGGAGGAGGGGCGCGTGGAGGGGGG CGCGTGGGGGGGTGTGGAGGGGGGCGCATGGGGGTGCGTGGGGGGGGCGC GTGGAGGGGGGGCGTGTGGGGGGGCGCGTGGAGGAGGAGGGGCGCATGGG GGGGTGTGGAGGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTGG AGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MSR1_chr8_16102881_16197651	16189506	T T	TTTTATAT others(274): Show TTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATC TTATTTTATATATTATATATATAAAATCTTATTTTATATATTATATATAT ATAAAATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATA TATATTTTATATATATAAAATCTTATTTTATATATATTTTATATATATAA AATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATA TTTTATATATATAAAATCTTATTTTATATATA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	330	0.0030	281	c.-5+ others(296): Show c.-5+3091_-5+3092insTATATATAAAATAAGATTTTATATATATAA AATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGA TTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAATA TATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAGATTTT ATATATATATAATATATAAAATAAGATTTTATATATATAATATATAAAAT AAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAA A	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(274): Show GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTGGT GGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGT AGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGC TGGTGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02735.hp2 NA20300.hp1 HG00639.hp2 HG02735.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0211 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0211 a0001c0001t0004g0214 a0001c0001t0004g0215	3	384	0.0078	281	c.160 others(298): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACGACTACCACCACCACCACCACTACCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCAC CACCACCACCATCACCACCATCACCACCACCACCATCACCACCATCACCA CCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(274): Show GTGGTGGTGATGGTGGTGATGGTGGTGGTGGTGGTGGCGGCGATGGTGGT GGTGGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGATGGTGGTGGTGGTGGTAGTGGTGGTGGTGGTGGTAGTCGTGGTGGT AGTGGTAATGATGGTGGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGC TGGTGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0331 a0001c0001t0018g0331	1	384	0.0026	281	c.160 others(298): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ACCAGCAGCACTACCACTACCACCACCATCATGGTCACCACCATCATTAC CACTACCACCACGACTACCACCACCACCACCACTACCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCATCAC CACCACCACCATCGCCGCCACCACCACCACCACCATCACCACCATCACCA CCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
MYLK4_chr6_2658637_2755922	2694524	G G	GTGGTGGT others(274): Show GTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGCGGCGATGGTGGTGGT GGTGATGGTGGCGGCGGTGGCAGTAGTGGTGGTGGTGGTGATGGTGGTGG TGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTAGTCGTGGTGGTAGTGGTAATGATGGT GGTGACCATGATGGTGGTGGTAGTGGTAGTGCTGCTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTAGTGTTC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0012 a0002c0002t0012	a0002c0002t0012g0310 a0002c0002t0012g0310	1	384	0.0026	281	c.160 others(298): Show c.160-1666_160-1665insGAACACTACCACCATCACCACCACCACC ATCACCACCACCACCACCAGCAGCACTACCACTACCACCACCATCATGGT CACCACCATCATTACCACTACCACCACGACTACCACCACCACCACCACCA CCACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCACCACTACTGCCACCGCCGCCACCAT CACCACCACCACCATCGCCGCCACCACCACCACCACCACCATCACCACCA CCA	MYLK4	ENSG00000145949.12	transcript	ENST00000274643.9	protein_coding	2/12			chr6	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(274): Show GGAGGGAGGGAAGAGGGAGGGAGGAGGGAGGGAAGAGAGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGCAGGAGGGCGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGG AGGAGGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGA GGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGAAGGAGG AGAGAGGAGGGAGGGAGGAGGGGGGGAGGGAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA18522.hp1 HG02559.hp1 NA18522.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0027 a0001c0008t0027	a0001c0008t0027g0039 a0001c0008t0027g0345 a0001c0008t0027g0039 a0001c0008t0027g0345	2	348	0.0058	281	c.887 others(298): Show c.887-6680_887-6679insGTCCCTCCCCCCCTCCTCCCTCCCTCCT CTCTCCTCCTTCCTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTCCCTC CTCCTCCCTCCCTCCTCTCTCCTCCCTCCTCCTCCCTCCTCCCTCCTCCC TCCTCCCTCCCTCCTCCCGCCCTCCTGCCTCCCTCCTCCCGCCCTCCTGC CTCCCTCCTCCGTCCCTCCTCCCTCCCTCCTCCCTCCCTCCTTCCTCTTC CCTCCTTCCCTCCCTCTCTCTTCCCTCCCTCCTCCCTCCCTCTTCCCTCC CTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NDUFV3_chr21_42888309_42918299	42894401	T T	TAATATAT others(274): Show TAATATATATTATATATAAATATATAATATATATAATATATATTATATAT AAATATATAATATATATTATATATAAATATATATTATATATTATATATTT ATATATTATAATATATAATATATATAATATATAATATATAATATATAAAT ATATTATAATATATAATATATATTATATATAAATATATAATATATAATGT ATATTATATTATATATATTATATAATATGTAAATATATATTATATATATT ATATAATATATAAATATATTATATAATATATA	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0032 a0002c0002t0032	a0002c0002t0032g0053 a0002c0002t0032g0053	1	348	0.0029	281	c.48+ others(296): Show c.48+1020_48+1021insAATATATATTATATATAAATATATAATATA TATAATATATATTATATATAAATATATAATATATATTATATATAAATATA TATTATATATTATATATTTATATATTATAATATATAATATATATAATATA TAATATATAATATATAAATATATTATAATATATAATATATATTATATATA AATATATAATATATAATGTATATTATATTATATATATTATATAATATGTA AATATATATTATATATATTATATAATATATAAATATATTATATAATATAT A	NDUFV3	ENSG00000160194.18	transcript	ENST00000354250.7	protein_coding	1/3			chr21	TogoVar
NEK7_chr1_198151998_198327420	198274158	T T	TTCTAGTT others(274): Show TTCTAGTTCTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCT GGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAG TAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACC TCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	346	0.0029	281	c.373 others(298): Show c.373-3791_373-3790insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGTCTAGTTCT CTT	NEK7	ENSG00000151414.15	transcript	ENST00000367385.9	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
NEU4_chr2_241804193_241822413	241805669	A A	ACCCTCCC others(274): Show ACCCTCCCTCCCCCCTCAGCCCAGAGACCTCCGCAGGCCACCTTCCCTCC CCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCTT CCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCT CAACCCAGGGACCTCCGCAGGCCACCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	281	c.-36 others(292): Show c.-3609_-3608insCCCTCCCTCCCCCCTCAGCCCAGAGACCTCCGCA GGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACG TCTGCAGGCCACCTTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		3523		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806698	G G	GCCCAGGG others(274): Show GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACG TCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCA CCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCC TCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAG CCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCT CTGCAGGCCACCCTCCCTCCCTCCCCCCTCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0002 a0011c0021t0002	a0011c0021t0002g0143 a0011c0021t0002g0143	1	319	0.0031	281	c.-25 others(292): Show c.-2580_-2579insCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGG GACGTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAG GCCACCCTCCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCC TCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCC TCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCTCCCCCCTCAA	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2494		chr2	TogoVar
NEU4_chr2_241804193_241822413	241806988	A A	ACCTCCCT others(274): Show ACCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCC CCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCCTCCCCTCCCCCCTCA GCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACC TCTGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCA CCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACTCTCCCTCCC CCCTCAGCCCAGGGACCTCCGCAGGCCACTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	319	0.0031	281	c.-22 others(292): Show c.-2290_-2289insCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAG GCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCTCCC TCCCCTCCCCCCTCAGCCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCC CTCAGCCCAGGGACCTCTGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGG GACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGAACCTCTGCAG GCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACTCT	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2204		chr2	TogoVar
NFATC1_chr18_79390930_79534323	79532188	T T	TCGGCAGA others(274): Show TCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAG CCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0012 a0001c0004t0002g0012	1	322	0.0031	281	c.46 others(292): Show c.4611_*4612insCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCCGCCCCCCGGCAGACCCTCC TGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCC TGCAGTCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGTCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCC	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2866		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532308	C C	CCGGCAGA others(274): Show CCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACC CTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTC CGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGC CCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCCGCCC CCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGAC CCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0186 a0001c0001t0016g0186	1	322	0.0031	281	c.47 others(292): Show c.4731_*4732insCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCC GCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGC AGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCT GTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCT GCAGCCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCC CGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2986		chr18	TogoVar
NFATC1_chr18_79390930_79534323	79532331	C C	CTGCAGCC others(274): Show CTGCAGCCCCCCGCCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCC CCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCC GGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCTCGGCAGACCCT CCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCG CCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCC CCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0142 a0002c0002t0003g0142	1	322	0.0031	281	c.47 others(292): Show c.4754_*4755insTGCAGCCCCCCGCCCCCCCGGCAGACCCTCCTGT CTCCGCCTGCAGCCCCCCGCCCCTCGGCAGACCCTCCTGTCTCCGCCTGC AGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGC CCCTCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAG ACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGT CTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		3009		chr18	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAT others(274): Show CTGTATATATGTACAGTATGTATACTGTATATATGTACAGTATGTATACT GTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATGTA TACTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATATATGT ACAGTATGTATACCGTATACAGCATGTATACTGTATATATGTACAGTATG TATACCGTATACAGTATGTATACCGTATACATATACAGTATGTATACCGT ATACAGTATGTATACCGTATATATACACAGTA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	362	0.0028	281	c.-75 others(300): Show c.-75+17711_-75+17712insTACTGTGTATATATACGGTATACATA CTGTATACGGTATACATACTGTATATGTATACGGTATACATACTGTATAC GGTATACATACTGTACATATATACAGTATACATGCTGTATACGGTATACA TACTGTACATATATACAGTATACATGCTGTATACAGTATACATGCTGTAT ACAGTATACATGCTGTATACAGTATACATGCTGTATACAGTATACATGCT GTATACAGTATACATACTGTACATATATACAGTATACATACTGTACATAT ATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NGEF_chr2_232873701_233018256	232995367	A A	ACAGCATG others(274): Show ACAGCATGTATACTGTATATATGTACAGCATGTATACTGTGTACAGCATG TATACTGTGTACAGCATGTATACTGTGTACAGCATGTATACTGTATGTAT GTATACTGTATGTATGTATACTGTATGTATGTATACCGTATATATACACA GTATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGT ATGTATACCGTATATATACACAGTATGTATACCGTATATATACACAGTAT GTATACCGTATATATACACAGTATGTATACCG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0158 a0001c0001t0006g0158	1	362	0.0028	281	c.-75 others(300): Show c.-75+17700_-75+17701insCGGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACATACAGTATACATACATACA GTATACATACATACAGTATACATGCTGTACACAGTATACATGCTGTACAC AGTATACATGCTGTACACAGTATACATGCTGTACATATATACAGTATACA TGCTG	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar

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