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
HPCAL1_chr2_10297904_10432604	10399298	T T	TCACCACC others(602): Show TCACCACCACCATCACCATCATCACCGCCACCACCACCACCACCACCACC ACCACCACCACCATCACCACCACCATCACCACCACCATCACCACCACCAT CATCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCA TCACCACCACCACCACCATCACCACCACCATCACCATCATCACCGCCACC ACCACCACCATCACCACCACCATCACCATCACCACCACCATCACCACCAC CACCACCACCACCATCACCACCACCATCACCACCACCATCACCACCACCA CCACCATCACCACCACCATCACCATCATCACCGCCACCACCACCACCATC ACCACCACCATCATCACCACCATCATCACCGCCGCCACCACCACCACCAT CACCACCACCACCATCACCACCACCACCACCATCACCACCACCATCACCA TCATCACCGCCACCACCACCACCATCACCACCACCATCATCACCACCATC ATCACCGCCGCCACCACCACCACCACCGCCGCCGCCGCCGCCACTGCCGC CACCACCACCACCATCACCATCATCACCGCCGCCACCACCACCACCATCA CCACCACAAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0185 a0001c0001t0017g0185	1	224	0.0045	609	c.-25 others(626): Show c.-25+2389_-25+2390insTCACCATCATCACCGCCACCACCACCAC CACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCATCA CCACCACCATCATCACCACCATCACCACCACCACCACCACCACCATCACC ACCACCACCATCACCACCACCACCACCATCACCACCACCATCACCATCAT CACCGCCACCACCACCACCATCACCACCACCATCACCATCACCACCACCA TCACCACCACCACCACCACCACCATCACCACCACCATCACCACCACCATC ACCACCACCACCACCATCACCACCACCATCACCATCATCACCGCCACCAC CACCACCATCACCACCACCATCATCACCACCATCATCACCGCCGCCACCA CCACCACCATCACCACCACCACCATCACCACCACCACCACCATCACCACC ACCATCACCATCATCACCGCCACCACCACCACCATCACCACCACCATCAT CACCACCATCATCACCGCCGCCACCACCACCACCACCGCCGCCGCCGCCG CCACTGCCGCCACCACCACCACCATCACCATCATCACCGCCGCCACCACC ACCACCATCACCACCACAACCACCACCACCA	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
IFNAR1_chr21_33319970_33364864	33323037	A A	AATATATA others(602): Show AATATATATATGGAATATATATATGGAATATATATATGGAATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATGGAATATATATATGGAATATATATATA TGGAATATATATATGGAATATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATGGAATATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATGTATATATGGAATATATATA TGGAATGTATATATGGAATATATATATGGAATGTATATATGTGGAATGTA TATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATAT GTGGAATGTATATATGTGGAATGTATATGTGGAATGTATATATGTGGAAT GTATATGTGGAATGTATATATGGAATATATATATATGGAATATATATATG GAATATATATATATGGAATATATATATGGAATATATATATATGGAATATA TATATGGAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0032 a0003c0003t0032	a0003c0003t0032g0115 a0003c0003t0032g0115	1	296	0.0034	609	c.-20 others(620): Show c.-2019_-2018insATATATATATGGAATATATATATGGAATATATAT ATGGAATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATGGAATATATATA TGGAATATATATATATGGAATATATATATGGAATATATATATATGGAATA TATATATGGAATATATATATATGGAATATATATATGGAATATATATATAT GGAATATATATATATGGAATATATATATATGGAATATATATATATGGAAT ATATATATATGGAATATATATATATGGAATATATATATATGGAATGTATA TATGGAATATATATATGGAATGTATATATGGAATATATATATGGAATGTA TATATGTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATAT GTGGAATGTATATATGTGGAATGTATATATGTGGAATGTATATGTGGAAT GTATATATGTGGAATGTATATGTGGAATGTATATATGGAATATATATATA TGGAATATATATATGGAATATATATATATGGAATATATATATGGAATATA TATATATGGAATATATATATGGAAT	IFNAR1	ENSG00000142166.15	transcript	ENST00000270139.8	protein_coding		1932		chr21	TogoVar
IQCB1_chr3_121764761_121840060	121786167	T T	TAAGAAAA others(602): Show TAAGAAAAGAAAAGAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0125 a0002c0003t0001g0125	1	233	0.0043	609	c.127 others(628): Show c.1278+2116_1278+2117insTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTCTTTTCTTTTCTT	IQCB1	ENSG00000173226.17	transcript	ENST00000310864.11	protein_coding	12/14			chr3	TogoVar
KCNG2_chr18_79792938_79905100	79857063	C C	CGCCCCCA others(602): Show CGCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCCACAGCCGCCCCC CTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCAC AGCCGCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGCC CCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCC ACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCACA GCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCCA CAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCCC CACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCAC CCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACAG CCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCAC AGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCCC CACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGCC CCCCACAGCT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	5	0.2000	609	c.-41 others(624): Show c.-41+629_-41+630insCCCACAGCCGCCCCCCCCCACAGCCGCCCC CCTCACAGCCACCCCCCCACAGCCACCCCCCTCCACAGCCACCCCCCCCA CAGCCGCCCCCCACAGCCGCCCCCCCCACAGCCGCCCCCCCCACAGCCGC CCCCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGC CACCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCAC AGCCACCCCCCCACAGCCGCCCCCCCACAGCCGCCCCCACAGCCGCCCCC ACAGCCGCCCCCCACAGCCACCCCCCAAAGCCACCTCCCCACAGCCGCCC CCACAGCCACCCCCCCACAGCCGCCCCCCACAGCCACCCCCCCACAGCCA CCCCCCCACAGCCGCCCCCACAGCCACCCCCCCACAGCCACCCCCCCACA GCCACCCCCCCACAGCCGCCCCCCACAGCCGCCCCCACAGCCACCCCCCA CAGCCACCCCCCCACAGCCACCCCCCCACAGCCGCCCCCACAGCCGCCCC CCACAGCCGCCCCCCCACAGCCACCCCCCCACAGCCGCCCCCGCAGCTGC CCCCCACAGCTGCCCCCACAGCCGCCCCC	KCNG2	ENSG00000178342.5	transcript	ENST00000316249.4	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr18	TogoVar
LOC102723971_chr9_135609183_135624893	135620157	T T	TCTACTCC others(602): Show TCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCCCCCGTCTCCCCCTTC TCCCCCTTTTCCCCCTACTCCCCCTTCTCCCCCATCTCCCCCGTCTCTCC CGTCTCCCCCATCTCCCCCTTCTCACCCTTCTCCCCCTACTCCCTCTTCT CCCCCGTCTCCCCCGTCTGCCCAGTCTCCCCCTTCTCCCCCTTCTCCCCC TTCTCCCCAATCTCCCCCGTCTCCCCCTTCTCCCATCTCCCCCATCTCCC CCTTCTCCCCCTACTCCCCTTCTCCCCTTCTCCCCCTTCTCCCCCATCTG CCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTCCCCCTACTCCCCCAT CTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCTACTCCCCCTTCTCCC CCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTC TCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCCCCTCTACTCCCCCTT CTCCCCCTACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCC CCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCTTCTCCC CCTTCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0003 a0003c0003t0005g0003	1	429	0.0023	609	c.12 others(620): Show c.1205_*1206insCTACTCCCCCTTCTCCCCCTACTCCCCCGTCTCC CCCGTCTCCCCCTTCTCCCCCTTTTCCCCCTACTCCCCCTTCTCCCCCAT CTCCCCCGTCTCTCCCGTCTCCCCCATCTCCCCCTTCTCACCCTTCTCCC CCTACTCCCTCTTCTCCCCCGTCTCCCCCGTCTGCCCAGTCTCCCCCTTC TCCCCCTTCTCCCCCTTCTCCCCAATCTCCCCCGTCTCCCCCTTCTCCCA TCTCCCCCATCTCCCCCTTCTCCCCCTACTCCCCTTCTCCCCTTCTCCCC CTTCTCCCCCATCTGCCCAGTATCCCCTTCTCCCCCTTCTTCCCCTACTC CCCCTACTCCCCCATCTCCCTCTTCTCCCCTATCTCCCCCTTCTCCCCCT ACTCCCCCTTCTCCCCCGTCTCCCCTGTCTGCCCAGTCTCCCCCATCTCC CCCTACTCCCCCTTCTCCCCCTACTCCTTCTCCCCCTTCTCCCCCTTCCC CCTCTACTCCCCCTTCTCCCCCTACTCCCCCTTCTCCCCCGTCTCCCCTG TCTGCCCAGTCTCCCCCATCTCCCCCTACTCCCCCTTCTCCCCCTACTCC TTCTCCCCTTCTCCCCCTTCCCCCC	LOC102723971	ENSG00000236543.3	transcript	ENST00000430816.3	protein_coding		265		chr9	TogoVar
MPPED1_chr22_43407014_43512848	43496928	G G	GTGGAGGT others(602): Show GTGGAGGTGGTGATGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGGT AGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGAGGTGGTGGTGG AGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTA GTGGTGGTGGAGATGGTGGTGGAGGTGGTGATGGAGGTGGTGGTGGTGGA GGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGTGGTGG AGATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTA GTGGTGGTGGAGATGGTGGTGGAGATGGTGTTGGTGGAGATGGTGGTGGT GGAGATAGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGG TGGTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGTGGAGATGGTG GTGGAGATGGTGTTGGTGGAGATGGTGGTGGTGGAGATAGTGGTGGTGGA GGTGATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGATGGTGG TGGTGGAGATGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTGGTGGTG GTGGAGGTGA	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0214 a0001c0004t0022g0214	1	104	0.0096	609	c.633 others(626): Show c.633-1304_633-1303insAGGTGGTGATGGTGGAGGTGGTGGTGGA GGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAGGTGG TGGTGGAGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGAG GTGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGAGGTGGTGAT GGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAGA TGGTGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGGTAGTGGTGGTGGAG ATGGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGAGATGGTGTT GGTGGAGATGGTGGTGGTGGAGATAGTGGTGGTGGAGGTGATGGTGGAGG TAGTGGTGGTGGAGGTGGTGGTGGTGGAGATGGTGGTGGTGGAGATGGTG GTGGTGGTGGAGATGGTGGTGGAGATGGTGTTGGTGGAGATGGTGGTGGT GGAGATAGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGAGGTGG TGGTGGTGGAGATGGTGGTGGTGGAGATGGTGGTGGTGGTGGAGATGGTG GTGGTGGAGGTGGTGGTGGTGGAGGTGATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRTFA_chr22_40405289_40641719	40537611	G G	GGCCAGCC others(602): Show GGCCAGCCGCCCCGTCTGGGAGGTGAGGGGGCGCCTCTTGCCGCGCCGCC CCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTCGCGCCCCCGCCCGGCCAGCCCGCCCTGTCCGGG AGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGGGTCGGCCCCCCGCCCGGCCAGGCCGCCCCGTCGG GAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGTGGGGGGGTCGGCCCTCCTGCCCTGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCCGGCCAGCCGCCCCGTCCAGGATGGAGGTGGGGGGGGGTCA GTCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCA GTCCCCCGCCTGGCCAGCCGTGCCGTCCGGGAGGGAGGTGGGGGGGTCAG CCCCCCGCCC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	238	0.0042	609	c.241 others(628): Show c.241+14494_241+14495insGGGCGGGGGGCTGACCCCCCCACCTC CCTCCCGGACGGCACGGCTGGCCAGGCGGGGGACTGACCCCCCCACCTCC CTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGACTGACCCCCCCCCACCT CCATCCTGGACGGGGCGGCTGGCCGGGGCGGGGGGCTGACCCCCCCACCT CCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAG TAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGGGGCGGCTGG CAGGGCAGGAGGGCCGACCCCCCCACACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCCCGACGGGGCGGCCTG GCCGGGCGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCTCCCGGACAGGGCGGGC TGGCCGGGCGGGGGCGCGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCGCGGCAAGAG GCGCCCCCTCACCTCCCAGACGGGGCGGCTGGC	MRTFA	ENSG00000196588.21	transcript	ENST00000355630.10	protein_coding	3/14		WARNING_TRANSCRIPT_NO_START_CODON	chr22	TogoVar
MSLN_chr16_755734_773862	767547	G G	GGGGGGGG others(602): Show GGGGGGGGCGAGTGGAGGAGCCCCGGTGGAGGGGCGCGTGGAGGAGGGGC GCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGGAGGAGGGGCGAGC GGGAGGAGGGGCGAGCGGGAGGAGGGGCGCGTGGACGGGGTGCGTGGAGG AGGGGCGCGTGGGGGGGGGCGCGTGGAGGGGGGCGCGTGGAGGAGGGGCG CGTGGAGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCATG GGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTGGAGGGGTCGCGTG GAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGGGCGC ATGGGGGTGCGTGGGGGGGCGCGTGGAGGGGGGGCGTGTGGGGGGGGCCG CGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCGTGGAG GGGGGGCGAGTGGAGGGGGGCGCGTGGGGGGGGCGTGGAGGAGGGGCGCG TGGAGGAGGAGGGGCGCGTGGAGGGGGGGCGAGTGGAGGGGGGCGCGTGG GGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGGCGCGTGGAGGGGG GGCGAGTGGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0214 a0002c0003t0004g0214	1	385	0.0026	609	c.159 others(624): Show c.1596+83_1596+84insGCGAGTGGAGGAGCCCCGGTGGAGGGGCGC GTGGAGGAGGGGCGCGTGGAGGAGGGGCGCGTGGAGGAGGGGCGAGCGGG AGGAGGGGCGAGCGGGAGGAGGGGCGAGCGGGAGGAGGGGCGCGTGGACG GGGTGCGTGGAGGAGGGGCGCGTGGGGGGGGGCGCGTGGAGGGGGGCGCG TGGAGGAGGGGCGCGTGGAGGGGGTGCGTGGAGGAGGGGCGCGTGGAGGA GGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACGTG GAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTG TGGAGGGGGGCGCATGGGGGTGCGTGGGGGGGCGCGTGGAGGGGGGGCGT GTGGGGGGGGCCGCGTGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGA GGGGCGCGTGGAGGGGGGGCGAGTGGAGGGGGGCGCGTGGGGGGGGCGTG GAGGAGGGGCGCGTGGAGGAGGAGGGGCGCGTGGAGGGGGGGCGAGTGGA GGGGGGCGCGTGGGGGGGGCGTGGAGGAGGGGCGCGTGGAGGAGGAGGGG CGCGTGGAGGGGGGGCGAGTGGAGGGGGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOTCH1_chr9_136489433_136551048	136535833	A A	AGGGGGGA others(602): Show AGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGAGTGCAGGGTGGGTG GAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGTGGG TGGAGGGGGGAGCACTCAGGATCCCTCCCGGGGCAATGGGTGCAGGGTGG GTGGAGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGGT GGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGGG TGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAGG GTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTCGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCAG GGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGCA GGGTGGGTGGAGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTGGGGGGGAGCACTCAGGATCCCTCCCAGGGGCAATGGGTGC AGGGTGGGTC	intron_variant intron_variant	MODIFIER	NA18982.hp1 NA18982.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0010 a0001c0007t0010	a0001c0007t0010g0252 a0001c0007t0010g0252	1	285	0.0035	609	c.140 others(626): Show c.140+8190_140+8191insGACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCCCACCCACCCTGCACCCATTGCCCCTGGG AGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCTGG GAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCCTG GGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCCT GGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCCGACCCACCCTGCACCCATTGCCCC TGGGAGGGATCCTGAGTGCTCCCCCTCCACCCACCCTGCACCCATTGCCC CTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTGC CCCGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACCCATTG CCCCTGGGAGGGATCCTGAGTGCTCCCCCCTCCACCCACCCTGCACTCAT TGCCCCGGGAGGGATCCTGAGTGCTCCCCCC	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCT others(602): Show TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC TCTCCTCTCCTCTCCTCTCCCACCCTCCCCCCCTCCCCTTCCCCTTCCTC CTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTC CTCTCCTCTCCTCTCCCACCCTCCCCCCCTCCCCTTCCCCTTCCTCCTCT CCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCCACCCTCCCCCCC TCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCC CTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTC CCCTCCCCCTTCCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCC CTTCCCCTCC	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0055 a0001c0001t0003g0055	1	206	0.0049	609	c.433 others(626): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAGGG AAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGG GGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGAGGGGGGGAGGGTGGGAGA GGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGAAGGGGAAGG GGAGGGGGGGAGGGTGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGGAAGGGGAAGGGGAG GGGGGGAGGGTGGGAGAGGAGAGGAGAGGAGAGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGA GAGGAGAGGAGAGGAGAGGAGAGGAGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
OPHN1_chrX_68037344_68438495	68326722	A A	AGGGAGGT others(602): Show AGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGTGAGGGGCTCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCC CTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGCGGGGGGGGGGGGTC GGCCAGCCGCCCCGGCCGGGAGGTGAGGGGCTCCTCTGCCCGGCCGCCCC TACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGTCGCCCCGTCCAGGAG GGAGGTGGGGGGGTCAACCCCCCGCCCGGCCAGCCTCCCGGAGGTGGGGG GTCAGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCTGGCCAGC CGCCCCGCCCAGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCTGGCCAGCC GCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCTCGTCCGGGAGGGGGGAGGGGGGGTCAGCCCCCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0122 a0001c0001t0006g0122	1	59	0.0169	609	c.155 others(628): Show c.155-27627_155-27626insCCCGGACGGGGCGGCTGGCCGGGCGG GGGGCTGACCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAG GGGGCTGACCCCCCCTCCCCCCTCCCGGACGAGGCGGCTGGCCGGGCGGG GGGCTGACCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCAGGCGGGG GGCTGACCCCCCCACCTCCCTCCTGGGCGGGGCGGCTGGCCAGGCAGAGG GGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTC CCGGACGGGGCGGCTGGCCAGGCGGGGGGCTGACCCCCCACCTCCGGGAG GCTGGCCGGGCGGGGGGTTGACCCCCCCACCTCCCTCCTGGACGGGGCGA CTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGA GGAGCCCCTCACCTCCCGGCCGGGGCGGCTGGCCGACCCCCCCCCCCCGC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCC AGTAGGGGCGGCCGGGCAGAGGAGCCCCTCACCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCCACCTCCC	OPHN1	ENSG00000079482.14	transcript	ENST00000355520.6	protein_coding	2/24			chrX	TogoVar
PIAS4_chr19_4002736_4044386	4035960	C C	CACCCGCA others(602): Show CACCCGCACACATCCATACAGTCCATACCATAACACACACACCCGCACAC ATCCATACAGTCCACACCATAACACACACACCCGCACACATCCATACAGT CCACACCATAACACACACACCCGCACACATCCATCCAGTCCACACCATAA CACACACACCCGCACACATCCATACAGTCCACACCATAACACACACACAC CCGCACACATCCATACAGTCCATACCATCACACACACCCACACACATCCA TACAGTCCACACCATAACACACACACCCGCACACATCCATACAGTCCACA CCATAACACACACACCCGCACACATCCATACAGTCCACACCATAACACAC ACACCCGCACACATCCATACAGTCCACACCGTCTCACACACACACCCGCA CACATCCATACAGTCCACACCATAACACACACACCTGCACACATCCATAC AGTCCACACCATCACACACACATCCATACAATCCACACCGTCACACACAT CCATACAGTCCACACCATCACACACATCCATACAGTCCACACCATCACAC ACACATCCATATAGTCCACACACATCCATACAGTCCACACCATCACACAC ACACACATCT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18964.hp1 HG00438.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0151 a0001c0001t0021g0094 a0001c0001t0001g0151 a0001c0001t0021g0094	2	332	0.0060	609	c.114 others(628): Show c.1143-1413_1143-1412insCCCGCACACATCCATACAGTCCATAC CATAACACACACACCCGCACACATCCATACAGTCCACACCATAACACACA CACCCGCACACATCCATACAGTCCACACCATAACACACACACCCGCACAC ATCCATCCAGTCCACACCATAACACACACACCCGCACACATCCATACAGT CCACACCATAACACACACACACCCGCACACATCCATACAGTCCATACCAT CACACACACCCACACACATCCATACAGTCCACACCATAACACACACACCC GCACACATCCATACAGTCCACACCATAACACACACACCCGCACACATCCA TACAGTCCACACCATAACACACACACCCGCACACATCCATACAGTCCACA CCGTCTCACACACACACCCGCACACATCCATACAGTCCACACCATAACAC ACACACCTGCACACATCCATACAGTCCACACCATCACACACACATCCATA CAATCCACACCGTCACACACATCCATACAGTCCACACCATCACACACATC CATACAGTCCACACCATCACACACACATCCATATAGTCCACACACATCCA TACAGTCCACACCATCACACACACACACATCTA	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PKP3_chr11_389209_409908	398691	G G	GTCACCTC others(602): Show GTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCAC ACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGT CACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTC CGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCA CACACCTGCA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	157	0.0064	609	c.106 others(626): Show c.1069-293_1069-292insCTACCCCCGCACACACCTCCGTCACCTC CGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCGCACACACCTGCATCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398691	G G	GTCACCTC others(602): Show GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTCCGTCAC CTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCG CACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCC TACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGT CACCTCCGTACCCCCGCACACACCTCCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCT CCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTC CGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCGCA CACACCTGCA	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	157	0.0064	609	c.106 others(626): Show c.1069-293_1069-292insCTACCCCCGCACACACCTGCGTCACCTC CCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGC GTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCAC ACACCTCCGTCACCTCCGTACCCCCGCACACACCTGCGTCACCTCCCTAC CCCCGCACACACCTGCGTCACCTCCGTACCCCCGCACACACCTGCGTCAC CTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACC TGCGTCACCTCCCTACCCCCGCACACACCTCCGTCACCTCCGTACCCCCG CACACACCTGCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCTCCC TACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGT CACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCCCCGCACAC ACCTGCGTCACCTCCCTACCCCCGCACACACCTGCGTCACCTCCCTACCC CCGCACACACCTCCGTCACCTCCGTACCCCCGCACACACCTCCGTCACCT CCGTACCCCCGCACACACCTGCATCACCTCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCB1_chr20_8127266_8889900	8662120	A A	AATTATAT others(602): Show AATTATATAATTATATATATATAATTATATAATTATATATTATTTATTAT ATAATATATAATTATATAATTATATATTATTTATTATATAATATATAATT ATATAATTATATATTATTTATTATATAATATATAATTATATAATTATATA TTATTTATTATATAATTATATATTATTTATTATATATATATTATTTATTA TATAATTATATAATTATATATTATTTATTATATAATTATATATTATTTAT TATATAATATATAATTATATATTATTTATTATATAATATATAATTATATA TTATTTATTATATAATATATAATTATATATTATTTATTATATAATATATA ATTATATATTATTTATTATATAATTATATATTATGTATTATATAATATAT AATTATATATTATGTATTATATAATTATATAATTATATATTATTTATTAT ATAATTATATAATTATATATTATTTATTACATAATTATATATTATTTATT ACATAAGTATATATTATTTATTACATAAGTATATATCACTTATTATATAA TTGTATATAATTATTTATTATATAATTGCATATAATTATTTATTATATAA TTGTATATAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0017 a0001c0006t0003g0017	1	83	0.0120	609	c.862 others(626): Show c.862+3416_862+3417insATTATATAATTATATATATATAATTATA TAATTATATATTATTTATTATATAATATATAATTATATAATTATATATTA TTTATTATATAATATATAATTATATAATTATATATTATTTATTATATAAT ATATAATTATATAATTATATATTATTTATTATATAATTATATATTATTTA TTATATATATATTATTTATTATATAATTATATAATTATATATTATTTATT ATATAATTATATATTATTTATTATATAATATATAATTATATATTATTTAT TATATAATATATAATTATATATTATTTATTATATAATATATAATTATATA TTATTTATTATATAATATATAATTATATATTATTTATTATATAATTATAT ATTATGTATTATATAATATATAATTATATATTATGTATTATATAATTATA TAATTATATATTATTTATTATATAATTATATAATTATATATTATTTATTA CATAATTATATATTATTTATTACATAAGTATATATTATTTATTACATAAG TATATATCACTTATTATATAATTGTATATAATTATTTATTATATAATTGC ATATAATTATTTATTATATAATTGTATATAG	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31			chr20	TogoVar
PLPP2_chr19_276043_296403	291612	G G	GGGGGGGA others(602): Show GGGGGGGACGGCAGCGGCGGGCAGGGGAGCGGCGGGCGGGGCGGGGAGGG GAGGGCAGCAGGGGAGAGGGGAGGAGGGGAGGGGCGGGGAGGGGAGGGGA GGAGGGAGGGGGAGGGGAGGAGGGGAGGGGAGGAAGGGGGGGACGGCAGC GGCGGGCAGGGGAGCAGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGGA GGGGAGGAGGGGGGGAGGGGAGGGGAGGAGGGGGGGACGGCAGCGGCGGG CAGGGGAGCGGCGGGCGGGGCGGGGAGGGGAGGGCAGCAGGGGAGAGGGG AGGAGGGGAGGGGCGGGGAGGGGAGGGGAGGAGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGAGGAGGGAGGGGGGACGGCAGCGGCGGGCAGGGGAG CGGCGGGCGGGGCGGGGAGGAGGGGAGGGAGGGGGAGGGGAGGAGGGGGG AGGGGAGGGGAGGAAGGGGGGGGACGGCAGCGGCGGGCAGGGGAGCAGCG GGCGGGGCGGGGAGGAGGGGAGGGTTAGGGGCGGGGAGGGGAGGAGGGAG GGGGAGGGGAGGAGGGGCGGGGAGGGGAGAGGGGGGAGGGGAGGAGGGAG GGGGAGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	113	0.0088	609	c.-27 others(618): Show c.-277_-276insTCCCCTCCCCCTCCCTCCTCCCCTCCCCCCTCTCCC CTCCCCGCCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCGCCCCTAA CCCTCCCCTCCTCCCCGCCCCGCCCGCTGCTCCCCTGCCCGCCGCTGCCG TCCCCCCCCTTCCTCCCCTCCCCTCCCCCCTCCTCCCCTCCCCCTCCCTC CCCTCCTCCCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCC CCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCCTCCCTCCTCCCC TCCCCTCCCCGCCCCTCCCCTCCTCCCCTCTCCCCTGCTGCCCTCCCCTC CCCGCCCCGCCCGCCGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTCCTC CCCTCCCCTCCCCCCCTCCTCCCCTCCCCCTCCCTCCCCTCCTCCCCGCC CCGCCCGCTGCTCCCCTGCCCGCCGCTGCCGTCCCCCCCTTCCTCCCCTC CCCTCCTCCCCTCCCCCTCCCTCCTCCCCTCCCCTCCCCGCCCCTCCCCT CCTCCCCTCTCCCCTGCTGCCCTCCCCTCCCCGCCCCGCCCGCCGCTCCC CTGCCCGCCGCTGCCGTCCCCCC	PLPP2	ENSG00000141934.10	transcript	ENST00000434325.7	protein_coding		210		chr19	TogoVar
RAB11FIP3_chr16_420649_528011	504279	C C	CTCCCATC others(602): Show CTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGT GCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACC TCTTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTAC CCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCCTCACCTCCTCCTGTACCACCTCCTCCTGTACCCCCTCAC CTCCTCTTGCACCCCCCTTGCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCCTCACCTCCTCCTGTACCCGCCTCACCTC CTCCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCC CTCACCTCCTCCTATACCCCCTCACCTCCTCCTATACCCCCTCACCTCCT CCTGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTC ACCTCCTGTA	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0190 a0001c0002t0002g0190	1	147	0.0068	609	c.139 others(628): Show c.1395+1182_1395+1183insTCCCATCTCCTCCTGTACCCCCTCAC CTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACC CCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGCACTCCCATCTCCT CCTGTACCCCCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCA CCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCCGCCTCACCTCCTCC TGCACTCCCATCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTCAC CTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTAC CACCTCCTCCTGTACCCCCTCACCTCCTCTTGCACCCCCCTTGCCTCCTG TACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCCTCACC TCCTCCTGTACCCGCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTAC CCCCTCACCTCCTTGTGCACCCCCTCACCTCCTCCTATACCCCCTCACCT CCTCCTATACCCCCTCACCTCCTCCTGCACTCCCATCTCCTCCTGTACCC CCTCACCTCCTTGTGCACCCCTCACCTCCTGTA	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504418	C C	CCTCACCT others(602): Show CCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTT GTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTC ACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCT GTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTC ACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGT ACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTC CTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCC TGTACCCCCT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02129.hp2 HG02165.hp1 HG02027.hp2 HG02129.hp2 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011	a0001c0001t0003g0241 a0001c0001t0007g0133 a0001c0001t0011g0131 a0001c0001t0003g0241 a0001c0001t0007g0133 a0001c0001t0011g0131	3	89	0.0337	609	c.139 others(628): Show c.1396-1105_1396-1104insTCACCTCCTCCTGTACCCCCTCACCT CCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCC TCCTGTACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCT CACCTCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTC CTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCCCC TCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTCCTCCTG TACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCCTC ACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTGT ACCCCCTCACCTCCTTGTGCACCCCCTCACCTCCTGTACCCCCTCACCTC CTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCAC CCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCT CCTGTACCCCCTCACCTCCTCCTGTACCCCCTC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RABEP2_chr16_28899421_28930238	28915167	T T	TCTCCTGC others(602): Show TCTCCTGCCTCAGCCTCCCCAGGAGCTGGGACTATAGGCACACACCAACA TGCCCAGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTG CCCAGGCTGGTCTCGAACTCCTGACCTCGTGATCTGCCTGCCTTGGCCTC CCAAAGTGCTGGGATTACAGGCTTGAGCCACCACGCCCGGCTTTTTTTTT TTTTTTTTAAGAGATGAGGTCGGCCGGGCGCGGTGACTCATGCCTGTAAT CCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACAAGGTCAAGAGATCG AGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAGTATAAA AATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATCCTTTGAACCCGGGAGGCGGGGGTTGCAGCGAGCC AAGATCACGCCATTGCACTCCAGCCTGGGCAACAGAGTGAGATGCTGTCT CAAAAAAAAAAAAAAAAAAAAGAGATGAGGTCTCGTTCTGTTGCCCAGGC TGGAGTGCAGTGGTGCAGTCGCGTCTCACTGTAGCCCTCATCTCCAGGAC TCGAGCCATC	intron_variant intron_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	125	0.0080	609	c.433 others(624): Show c.433-386_433-385insGATGGCTCGAGTCCTGGAGATGAGGGCTAC AGTGAGACGCGACTGCACCACTGCACTCCAGCCTGGGCAACAGAACGAGA CCTCATCTCTTTTTTTTTTTTTTTTTTTTGAGACAGCATCTCACTCTGTT GCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCGCTGCAACCCCCGCC TCCCGGGTTCAAAGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCTGCCACCACGCCCAGCTAATTTTTATACTTTTAATAGAGAC GGGGTTTCACCATGTTGGCCAGGATGGTCTCGATCTCTTGACCTTGTGAT CCGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCG CGCCCGGCCGACCTCATCTCTTAAAAAAAAAAAAAAAAAGCCGGGCGTGG TGGCTCAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATC ACGAGGTCAGGAGTTCGAGACCAGCCTGGGCAACATGGTGAAACCCCATC TCTACTAAAAATACAAAAATTAGCTGGGCATGTTGGTGTGTGCCTATAGT CCCAGCTCCTGGGGAGGCTGAGGCAGGAG	RABEP2	ENSG00000177548.13	transcript	ENST00000358201.9	protein_coding	3/12			chr16	TogoVar
RABL6_chr9_136802948_136846187	136803012	G G	GGGGGCCC others(602): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0001 a0014c0021t0001	a0014c0021t0001g0003 a0014c0021t0001g0003	1	315	0.0032	609	c.-51 others(620): Show c.-5185_-5184insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATC TTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAG GGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCA GGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCA AGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCT	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4935		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803012	G G	GGGGGCCC others(602): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0143 a0002c0004t0001g0143	1	315	0.0032	609	c.-51 others(620): Show c.-5185_-5184insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCC AGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGC CGGGGGCCCTCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGT GAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4935		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803145	G G	GCCGGGGG others(602): Show GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCA GGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCC AGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTT GGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCC CCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGG CCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCC CCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAG GGCCCAGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	187	0.0053	609	c.-50 others(620): Show c.-5052_-5051insCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCTCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTC AAGGTGAGCTCAGGGCCCAGGGCTGGGGCCCCCCAGGGCCAGCCCTCTTG GATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGG TCAAGGTGAGCTCAGGGCCCAGGGC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4802		chr9	TogoVar
RABL6_chr9_136802948_136846187	136803215	G G	GGGGGCCC others(602): Show GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCAGCCCTCTTGGATCTT CGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGG CCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGG GCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAG GTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGA TCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCC AGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCC CAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCT TGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGCCC CCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGG GCCCAGGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0075	1	275	0.0036	609	c.-49 others(620): Show c.-4982_-4981insGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCG GATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCAGGGCCA GCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCC GGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTG AGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCT TCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCTGGGGGCCCCCCAGG GCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAG GGCTGGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAA GGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCCCAGGGCCAGCCCTCTTGG ATCTTCGGATGGGGTCAAGGTGAGCTCAGGGCCCAGGGCCGGGGGCCCCC CAGGGCCAGCCCTCTTGGATCTTCGGATGGGGTCAAGGTGAGCTCAGGGC CCAGGGCCGGGGCCCCCCAGGGCCAGCCCTCTTGGATCTTCGGATGGGGT CAAGGTGAGCTCAGGGCCCAGGGCC	RABL6	ENSG00000196642.19	transcript	ENST00000311502.12	protein_coding		4732		chr9	TogoVar
RIN3_chr14_92508781_92693994	92547135	G G	GTAAATTA others(602): Show GTAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTT ATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTC TTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTAT TTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATT ATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAA AATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTAT TATTATAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02132.hp1 HG02080.hp2 HG02132.hp1	a0003 a0008 a0003 a0008	a0003c0003 a0008c0010 a0003c0003 a0008c0010	a0003c0003t0001 a0008c0010t0002 a0003c0003t0001 a0008c0010t0002	a0003c0003t0001g0268 a0008c0010t0002g0269 a0003c0003t0001g0268 a0008c0010t0002g0269	2	174	0.0115	609	c.45- others(624): Show c.45-8552_45-8551insGTCTTTATTTTATTATTATAAAATAAATTG TCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAA ATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATT ATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAATTGTCTTT ATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTATAAAATAAA TTGTCTTTATTTTATTATTATAAAATAAATTGTCTTTATTTTATTATTAT AAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTT ATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATC TTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAAT AAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTATTTTATTAT TATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATTATCTTTAT TTTATTATTATAAAATAAATTATCTTTATTTTATTATTATAAAATAAATT ATCTTTATTTTATTATTATAAAATAAATT	RIN3	ENSG00000100599.16	transcript	ENST00000216487.12	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr14	TogoVar
SHANK1_chr19_50654255_50724802	50678902	G G	GATGGGGA others(602): Show GATGGGGAGGGGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGG TCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGG GGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGT GTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGG GGTCAAGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGAT GGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCA AGATGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGA GGGGTCAGGGTGATGGGGAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTG ATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGT CAGTGTGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGG GAGGGGTCAGTGTGATGGAGAGGGGTCAGGGTGATGGGGAGGGGTCAAGA TGATGGGGAGGGGTCAGGGTGATGGGGAGGGGTCAGGGTGATGGGGAGGG GTCAAGATGA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18974.hp2 NA18998.hp1 others(2): Show NA18960.hp2 NA18974.hp2 NA18998.hp1 NA19056.hp1 NA19090.hp2	a0001 a0018 a0001 a0018	a0001c0002 a0001c0015 a0018c0024 a0001c0002 a0001c0015 a0018c0024	a0001c0002t0002 a0001c0002t0005 a0001c0002t0019 others(2): Show a0001c0002t0002 a0001c0002t0005 a0001c0002t0019 a0001c0015t0027 a0018c0024t0079	a0001c0002t0002g0294 a0001c0002t0005g0115 a0001c0002t0019g0273 others(2): Show a0001c0002t0002g0294 a0001c0002t0005g0115 a0001c0002t0019g0273 a0001c0015t0027g0029 a0018c0024t0079g0203	5	203	0.0246	609	c.257 others(628): Show c.2578-6789_2578-6788insTCATCTTGACCCCTCCCCATCACCCT GACCCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCA TCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCATCACCCTGACCC CTCCCCATCACCCTGACCCCTCCCCATCACACTGACCCCTCCCCATCACC CTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCTC CATCACACTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGAC CCCTCCCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCA CCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTC CCCATCACCCTGACCCCTCCCCATCATCTTGACCCCTCCCCATCACCCTG ACCCCTCCCCATCACCCTGACCCCTCTCCATCACACTGACCCCTCCCCAT CACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCC TCCCCATCACCCTGACCCCTCCCCATCACCCTGACCCCTCCCCATCACCC TGACCCCTCCCCATCATCTTGACCCCTCCCCAT	SHANK1	ENSG00000161681.17	transcript	ENST00000293441.6	protein_coding	21/23			chr19	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(602): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATATATATTATATATAATATATA ATATAAATATATTATATATAATATATATAATATATATATTATATATAATA TATATAATATATATATTATATATATTATATATAATATATATAATATAAAT ATATTATATATAATATATATAATATAAATATATTATATATATTATATATA ATATAAATATATTATATATATTATATATAATATAAATATATTATATATAT TATATATAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATATAATATAAATATATTATATATATTATATATAATATA AATATATTATATATATTATATATAATATAAATATATTATATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTATATA TATTATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	132	0.0076	609	c.-70 others(626): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATAATATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATATT ATATATAATATATATAATATATATATTATATATATTATATATAATATATA TATTATATATATTATATATAATATATTTATATTATATATTATATATAATA TATATATTATATATTATATATAATATATTTATATTTATATAATATATAAT ATATTTATATTTATATATAATATATATAATATATTTATATTTATGTATAA TATATATAATATATTTATATTTATGTATAATATATATAATATATTTATAT TTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(602): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATACATAAATATAAAT ATATTATATATATTATATATAAATATAAATATATTATATATTATATAAAT ATAAATATATTATATATAATATATAATATATATATTATATATAATATATA ATATAAATATATTATATATAATATATATAATATATATATTATATATAATA TATATAATATATATATTATATATATTATATATATTATATATAATATAAAT ATATTATATATAATATATATAATATAAATATATTATATATAATATATATA ATATAAATATATTATATATATTATATATAATATAAATATATTATATATAT TATATATAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATATAATATAAATATATTATATATATTATATATAATATA AATATATTATATATATTATATATAATATAAATATATTATATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTATATA TATTATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0164 a0001c0001t0003g0164	1	132	0.0076	609	c.-70 others(626): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATATATTTATATTATATATATTATATATAA TATATTTATATTATATATATTATATATAATATATTTATATTATATATAAT ATATATAATATATATAATATATATATTATATATATTATATATAATATATA TATTATATATATTATATATAATATATTTATATTATATATTATATATAATA TATATATTATATATTATATATAATATATTTATATTTATATAATATATAAT ATATTTATATTTATATATAATATATATAATATATTTATATTTATGTATAA TATATATAATATATTTATATTTATGTATAATATATATAATATATTTATAT TTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC37A3_chr7_140328752_140403530	140387809	A A	AAATATAA others(602): Show AAATATAAATATATTATATATATTATACATAAATATAAATATATTATATA TATTATACATAAATATAAATATATTATATATATTATATATAAATATAAAT ATATTATATATTATATAAATATAAATATATTATATATAATATATAATATA AATATATTATATATAATATATAATATAAATATATTATATATAATATATAT AATATATATATTATATATAATATATATAATATATATATTATATATATTAT ATATATTATATATAATATAAATATATTATATATAATATATATAATATAAA TATATTATATATAATATATATAATATAAATATATTATATATATTATATAT AATATAAATTATTATATATATTATATATAATATAAATATATTATATATAT TATATATAATATAAATATATTATATATATTATATATAATATAAATATATT ATATATATTATATATAATATAAATATATTATATATATTATATATAATATA AATATATTATATATATTATATATAATATAAATATATTATATATATTATAT ATAATATAAATATATTATATATATTATATATAATATAAATATATTATATA TATTATATAT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0004 a0004c0010t0004	a0004c0010t0004g0143 a0004c0010t0004g0143	1	132	0.0076	609	c.-70 others(626): Show c.-70-5214_-70-5213insATATATAATATATATAATATATTTATAT TATATATAATATATATAATATATTTATATTATATATAATATATATAATAT ATTTATATTATATATAATATATATAATATATTTATATTATATATAATATA TATAATATATTTATATTATATATAATATATATAATATATTTATATTATAT ATAATATATATAATATATTTATATTATATATAATATATATAATATATTTA TATTATATATAATATATATAATAATTTATATTATATATAATATATATAAT ATATTTATATTATATATATTATATATAATATATTTATATTATATATATTA TATATAATATATTTATATTATATATAATATATATAATATATATAATATAT ATATTATATATATTATATATAATATATATATTATATATATTATATATAAT ATATTTATATTATATATTATATATAATATATTTATATTATATATTATATA TAATATATTTATATTTATATAATATATAATATATTTATATTTATATATAA TATATATAATATATTTATATTTATGTATAATATATATAATATATTTATAT TTATGTATAATATATATAATATATTTATATT	SLC37A3	ENSG00000157800.18	transcript	ENST00000326232.14	protein_coding	1/14			chr7	TogoVar
SLC6A3_chr5_1387794_1450440	1414469	G G	GCTGGGTG others(602): Show GCTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGG GCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTGGAGGGGC AGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAG GCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGG GGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGG GCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGCGGGGA AGGCGCTGGGTGGGGGGGCCGGGAGGGGCAGGGCGGGGAAGGCACTGGGT GGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGA GGGGCAGGGCGGGGAAGGCGCTGGGTGGGGGGCCGGGAGGGGCAGGGCAG GGAAGGCACTGGGTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGG GTGGGGGGCCTGGAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCTG GAGGGGCAGGGCGGGGAAGGCACTGGGTGGGGGGCCGGGAGGGGCAGGGC GGGGAAGGCA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0265 a0001c0004t0001g0265	1	110	0.0091	609	c.115 others(626): Show c.1156+221_1156+222insTGCCTTCCCCGCCCTGCCCCTCCCGGCC CCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTG CCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGCCC TGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCTGCCCTGCCCCTCCCGG CCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAG TGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCCCGC CCTGCCCCTCCCGGCCCCCCCACCCAGCGCCTTCCCCGCCCTGCCCCTCC CGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACC CAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCACCCAGTGCCTTCCC CGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCT CCCGGCCCCCCACCCAGTGCCTTCCCCGCCCTGCCCCTCCAGGCCCCCCA CCCAGTGCCTTCCCCGCCCTGCCCCTCCCGGCCCCCCACCCAGTGCCTTC CCCGCCCTGCCCCTCCCGGCCCCCCACCCAG	SLC6A3	ENSG00000142319.18	transcript	ENST00000270349.12	protein_coding	8/14			chr5	TogoVar
SPATA13_chr13_24155720_24312069	24190154	T T	TATAATGA others(602): Show TATAATGATATATAATATATATCATTATATAACATATAATGATATATAAT ATATATCATTATATAACATATAATGATATATAATATATATCATTATATAA CATATAATGATATATAATATATATCATTATATAACATATAATGATATATA ATATATATCATTATATAACATATAATGATATATAATATATATCATTATAT AACATATAATGATATATAATATATATCATTATATAACATATAATGATATA TAATATATATCATTATATAACATATAATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATATAACATATAATGATATATAATATATATCATTA TATAACATATAATGATATATAATATATATCATTATATAACATATAATGAT ATATAATATATATCATTATATAACATATAATGATATATAATATATATCAT ATAACATATG	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0176	1	54	0.0185	609	c.-11 others(630): Show c.-112+29225_-112+29226insATGATATATAATATATATCATTAT ATAACATATAATGATATATAATATATATCATTATATAACATATAATGATA TATAATATATATCATTATATAACATATAATGATATATAATATATATCATT ATATAACATATAATGATATATAATATATATCATTATATAACATATAATGA TATATAATATATATCATTATATAACATATAATGATATATAATATATATCA TTATATAACATATAATGATATATAATATATATCATTATATAACATATAAT GATATATAATATATATCATTATATAACATATAATGATATATAATATATAT CATTATATAACATATAATGATATATAATATATATCATTATATAACATATA ATGATATATAATATATATCATTATATAACATATAATGATATATAATATAT ATCATTATATAACATATAATGATATATAATATATATCATATAACATATAA TGATATATAATATATATCATTATATAACATATAATGATATATAATATATA TCATTATATAACATATAATGATATATAATATATATCATTATATAACATAT AATGATATATAATATATATCATATAACATATGATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
TBC1D22A_chr22_46757650_47180693	47128195	T T	TCCCTCCA others(602): Show TCCCTCCACCCCACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCC TCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCAT CCTCCTCCGCCCCACCCACCCCCCCTCCGCCCCACCCATCCCCCCTCCCC TCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCAT CCCTCCCTCCGCCCCACCCATCCCTCCTCCCCTCACCCATCCCTCCATCC TCCCTCCACCCCACCCATCCTCCCTCCACCCCACCCATCCTCCCCTCTGC CCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATC CCTCCCTCCGCCCTACCCATCCTCCTCTGCCCCACCCACCCCCCCCTCCG CCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCAT CCCTCCCTCCGCCCCACCCATCCCTCCTCCGCCCCACCCACCACCCCTCC GCCCCACCCATCCCCCCTCCCCTCACCCATCCCTCCATCCTCCCTCCACC CCACCCATTCTCCCCTCCACCCCACCCATCCCCCATCCTCCCTCCACCCC ACCCATCCTC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0032 a0001c0001t0002g0032	1	61	0.0164	609	c.142 others(630): Show c.1425+16598_1425+16599insACCCCACCCATCCTCCCCTCTGCC CCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCCTCCGCCCTACCCATCCTCCTCCGCCCCACCCACCCCCCCTCCGCC CCACCCATCCCCCCTCCCCTCACCCATCCCTCCCTCCGCCCCACCCATCC CTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCC CTCACCCATCCCTCCATCCTCCCTCCACCCCACCCATCCTCCCTCCACCC CACCCATCCTCCCCTCTGCCCCACCCATCCCCCCTCCCCTCACCCATCCC TCCCTCCGCCCCACCCATCCCTCCCTCCGCCCTACCCATCCTCCTCTGCC CCACCCACCCCCCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATCC CTCCCTCCGCCCCACCCATCCCTCCCTCCGCCCCACCCATCCCTCCTCCG CCCCACCCACCACCCCTCCGCCCCACCCATCCCCCCTCCCCTCACCCATC CCTCCATCCTCCCTCCACCCCACCCATTCTCCCCTCCACCCCACCCATCC CCCATCCTCCCTCCACCCCACCCATCCTCCCCTCC	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF25_chr16_89868592_89916379	89908696	C C	CCTCCCAC others(602): Show CCTCCCACCTCTCACCTCCCACCTCCCTCCTCCCAGTTCCCAGCTCCCAG CTCCCACCTCCCAGCTCCAACCTTCCAGCTCCCAGCTCCCACCTAGCAGC TCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCACCTCCCACCTCCCAGCT CCCGCCTCCCACCTCCCACCTCCCACCTCCCTCCTCCCAGTTCCTACCTC CCATCTCCCAGCTCCCAGCTGCCACCTCCCAGCTTCTGCCTCCCTCCTCC CAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCGCCTCCCTCATCCT AGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTCCCACCTCCCTCCTTTCA CCTCCCACCTGCCACCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCAC CTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACC TCCCAACTCCCTCCTCCCACCCCCCACCTCCCTCCTCCCAGTTTCCACCT CCCCGTTCCCACCTCCCACCTCCCTCCTCCCACCTCCCAACTCTCTCCTC CCACCTTCCAGTTCCCACCTCCTTCCTCGCAGTTCCCACCTCCCAGTTCC CACCTTCCAG	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG02896.hp1 HG02897.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0006 a0002c0003t0001g0006	2	278	0.0072	609	c.179 others(628): Show c.1799+1380_1799+1381insCCTCTCACCTCCCACCTCCCTCCTCC CAGTTCCCAGCTCCCAGCTCCCACCTCCCAGCTCCAACCTTCCAGCTCCC AGCTCCCACCTAGCAGCTCCCGGCTCCTGGCTCCCACCTCCCTCCTCCCA CCTCCCACCTCCCAGCTCCCGCCTCCCACCTCCCACCTCCCACCTCCCTC CTCCCAGTTCCTACCTCCCATCTCCCAGCTCCCAGCTGCCACCTCCCAGC TTCTGCCTCCCTCCTCCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCT CCCGCCTCCCTCATCCTAGTTCCCACCTCCCAGCTCCCAGCTCCCTCCTC CCACCTCCCTCCTTTCACCTCCCACCTGCCACCTCCCGCCTCCCACCTTC CAGCTCCCGCCTCCCACCTTCCAGCTCCCGCCTCCCTCCTCCCAGTTCCC ACCTCCCAGCTCCCACCTCCCAACTCCCTCCTCCCACCCCCCACCTCCCT CCTCCCAGTTTCCACCTCCCCGTTCCCACCTCCCACCTCCCTCCTCCCAC CTCCCAACTCTCTCCTCCCACCTTCCAGTTCCCACCTCCTTCCTCGCAGT TCCCACCTCCCAGTTCCCACCTTCCAGCTCCCA	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TLL2_chr10_96359608_96518926	96415739	G G	GTCTCTCT others(602): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCT GTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCT CTCTCTCTCTTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCTC TCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTC TCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTC TCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTC TCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTCTCTGTCTCTT TCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTGTCTCTGTCTC TCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTC TCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTC TCTCTGTCTC	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0013 a0009c0011t0013	a0009c0011t0013g0219 a0009c0011t0013g0219	1	158	0.0063	609	c.924 others(626): Show c.924-2424_924-2423insGAGACAGAGAGAGAGACAGAGAGAGAGA GACAGAGAGAGAGACAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGA GAGACAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGA GAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGAGAGA GACAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGA AAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGACAGAGAGA GAGAGAGAGACAGAGACAGAGAAGAGAGAGAGAGAGAGACAGAGAGAGAG AGACAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAG AGAGACAGAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAG AGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAGAGACAGAGAGAG AGACAGAGAGAGAGAGAGAGAGAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMC6_chr17_78102397_78133755	78115614	G G	GAGGAGCG others(602): Show GAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAG GGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAG GGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGG CACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGG CGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGA GTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCAC AGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGA AGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTG GGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGG AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCAC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0263 a0001c0001t0004g0263	1	397	0.0025	609	c.227 others(628): Show c.2277+1654_2277+1655insGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCT TCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCT GTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCAC TCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCG CCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTG CCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCC CTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTC CTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCC ACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTT CGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCT	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(602): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0425 a0001c0001t0001g0425	1	188	0.0053	609	c.227 others(628): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115618	A A	AGCGAAGG others(602): Show AGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0003 a0005c0004t0003	a0005c0004t0003g0204 a0005c0004t0003g0204	1	188	0.0053	609	c.227 others(628): Show c.2277+1650_2277+1651insCCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTC CCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115765	G G	GGCGAAGG others(602): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGG GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGAGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0033 a0005c0004t0033	a0005c0004t0033g0226 a0005c0004t0033g0226	1	408	0.0025	609	c.227 others(628): Show c.2277+1503_2277+1504insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC TCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMC6_chr17_78102397_78133755	78115891	G G	GGCGAAGG others(602): Show GGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGG GAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGC ACAGGGGCGAAGGGAGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGC GAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAG TGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACA GGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAA GGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGG GCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGA GCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGG AGTGGGCACAGGAGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCA CAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCG AAGGGAGTGGGCACAGGGGCGAAGGGAGTGGGCACAGGGGCGAAGGGAGT GGGCACAGGA	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0386 a0003c0003t0003g0386	1	425	0.0024	609	c.227 others(628): Show c.2277+1377_2277+1378insTCCTGTGCCCACTCCCTTCGCCCCTG TGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACT CCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC CCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGC CCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCC TTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCC TGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCA CTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTC GCCCCTGTGCCCACTCCCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGT GCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTC CCTTCGCTCCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCC CCTGTGCCCACTCCCTTCGCCCCTGTGCCCACTCCCTTCGCCCCTGTGCC CACTCCCTTCGCCCCTGTGCCCACTCCCTTCGC	TMC6	ENSG00000141524.19	transcript	ENST00000590602.6	protein_coding	18/19			chr17	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(602): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTCATATATTGTATAAAAATATATATATCATATATATTTATATA TTATATAAAAATATATATATCATATATATTTATATATTATATATTATATA TTTATATTTTATTTTTATATTTATATTATATATATATTTTTATATTTATA TTTATATATTATTATATTATATTTATATATTATATAAAAATATATATCAT ATATTTATATATTATATAAAAATATATTTCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp2 HG01109.hp1 others(7): Show HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01169.hp2 HG01358.hp1 HG01361.hp1 HG01978.hp1 NA18942.hp1 NA18962.hp1 NA20300.hp1	a0002 a0002	a0002c0001 a0002c0005 a0002c0006 others(2): Show a0002c0001 a0002c0005 a0002c0006 a0002c0008 a0002c0019	a0002c0001t0003 a0002c0001t0013 a0002c0005t0003 others(3): Show a0002c0001t0003 a0002c0001t0013 a0002c0005t0003 a0002c0006t0003 a0002c0008t0003 a0002c0019t0010	a0002c0001t0003g0002 a0002c0001t0013g0019 a0002c0001t0013g0071 others(7): Show a0002c0001t0003g0002 a0002c0001t0013g0019 a0002c0001t0013g0071 a0002c0001t0013g0091 a0002c0005t0003g0086 a0002c0006t0003g0003 a0002c0006t0003g0018 a0002c0006t0003g0087 a0002c0008t0003g0015 a0002c0019t0010g0118	10	67	0.1493	609	c.143 others(630): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTCATATATTGTATAAAAATATATATATCATATATATTTATATATTATAT AAAAATATATATATCATATATATTTATATATTATATATTATATATTTATA TTTTATTTTTATATTTATATTATATATATATTTTTATATTTATATTTATA TATTATTATATTATATTTATATATTATATAAAAATATATATCATATATTT ATATATTATATAAAAATATATTTCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATTT ATATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(602): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTCATATATTGTATAAAAATATATATATCATATATATTTATATA TTATATAAAAATATATATATCATATATATTTATATATTATATATTATATA TTTATATTTTATTTTTATATTTATATTATATATATATTTTTATATTTATA TTTATATATTATTATATTATATTTATATATTATATAAAAATATATATCAT ATATTTATATATTATATAAAAATATATTTCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATTTATATATTATATAAAAATATATGTCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATAT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0010 a0002c0001t0010	a0002c0001t0010g0113 a0002c0001t0010g0113	1	58	0.0172	609	c.143 others(630): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTCATATATTGTATAAAAATATATATATCATATATATTTATATATTATAT AAAAATATATATATCATATATATTTATATATTATATATTATATATTTATA TTTTATTTTTATATTTATATTATATATATATTTTTATATTTATATTTATA TATTATTATATTATATTTATATATTATATAAAAATATATATCATATATTT ATATATTATATAAAAATATATTTCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATTT ATATATTATATAAAAATATATGTCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132B_chr12_125181386_125667369	125612896	A A	ATAAAAAT others(602): Show ATAAAAATATATATCATATATATTTATATATTGTATAAAAATATATATCA TATATATTCATATATTGTATAAAAATATATATATCATATATATTTATATA TTATATAAAAATATATATATCATATATATTTATATATTATATATTATATA TTTATATTTTATTTTTATATTTATATTATATATATATTTTTATTTTTATA TTTATATATTATTATATTATATTTATATATTATATAAAAATATATATCAT ATATTTATATATTATATAAAAATATATTTCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTATATAAAAATATATATCAT ATATTTATATATTATATAAAAATATATATCATATATATTTATATATTATA TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAATATA TATCATATATATTTATATATTAAAAATATATATCATATATATTTATATAT TAAAAATATATATCATATATATTTATATATTAAAAATATATATCATATAT ATTTATATAT	intron_variant intron_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0003 a0002c0008t0003	a0002c0008t0003g0127 a0002c0008t0003g0127	1	58	0.0172	609	c.143 others(630): Show c.1437+28933_1437+28934insGTATAAAAATATATATCATATATA TTCATATATTGTATAAAAATATATATATCATATATATTTATATATTATAT AAAAATATATATATCATATATATTTATATATTATATATTATATATTTATA TTTTATTTTTATATTTATATTATATATATATTTTTATTTTTATATTTATA TATTATTATATTATATTTATATATTATATAAAAATATATATCATATATTT ATATATTATATAAAAATATATTTCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTATATAAAAATATATATCATATATTT ATATATTATATAAAAATATATATCATATATATTTATATATTATATAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATTAAAAATATATATCAT ATATATTTATATATTAAAAATATATATCATATATATTTATATATTAAAAA TATATATCATATATATTTATATATTAAAAATATATATCATATATATTTAT ATATTAAAAATATATATCATATATATTTATATATT	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM178B_chr7_141069064_141485380	141337156	C C	CACCACCA others(602): Show CACCACCACCATCACTACCACCACCACCACCCCCATCACTACCATCATCA TCACCACCACCACCATCACCACCATCACCACCACCACCATCATCACCACC ACCATCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAT CACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCACCATCACCACC ACCACCACCACCACCACCACCAGCATCACCACCATCACCACCACCACCAC CACCACCACCACCACCACCACCAGCATCACCACCACCACCACCACCACCA CCACCATCACCACCAGCATCACCACCATCACCACCACCATCACCACCACC ACCACCACCACCACCACCACCACCACCAGCATCACCACCATCACCACCAC CACCACCACCACCACCACCACCACCATCACCACCAGCATCACCACCATCA CCACCACCATCACCACCACCACCACCACCACCATCACCACCACCACCATC ACCACCACGACCACCACCAGCACCACCATCACCACCATCACCACCACCAC CACCATCACT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0072 a0001c0002t0017g0072	1	34	0.0294	609	c.497 others(630): Show c.497-100451_497-100450insCCACCACCATCACTACCACCACCA CCACCCCCATCACTACCATCATCATCACCACCACCACCATCACCACCATC ACCACCACCACCATCATCACCACCACCATCACCACCACCACCATCACCAC CACCACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCACCACCATCACCACCACC ACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAGCAT CACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCAGCA TCACCACCACCACCACCACCACCACCACCATCACCACCAGCATCACCACC ATCACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCAC CAGCATCACCACCATCACCACCACCACCACCACCACCACCACCACCACCA TCACCACCAGCATCACCACCATCACCACCACCATCACCACCACCACCACC ACCACCATCACCACCACCACCATCACCACCACGACCACCACCAGCACCAC CATCACCACCATCACCACCACCACCACCATCACTA	TMEM178B	ENSG00000261115.7	transcript	ENST00000565468.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEM179_chr14_104585864_104609772	104603541	G G	GGCTCACA others(602): Show GGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACA GAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTTCACAGAGGGAGT GGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGC TCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAG GGGGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGG TGGGCTCACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGCTCA CAGAGGGGGTGGGTGGGTTCACAGAGGGAGTGGGTGGGTTCACAGAGGGG GTGGGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGG GTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAG AGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGGGGGTG GGTGGGTTCACAGAGGGGGTGGGTGGGCTCACAGAGGGGGTGGGTGGGTT CACAGAGGGAGTGGGTGGGTTCACAGAGGGGGTGGGTGGGTTCACAGAGG GGGTGGGTGA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0095 a0001c0002t0003g0095	1	389	0.0026	609	c.305 others(624): Show c.305+895_305+896insTCACCCACCCCCTCTGTGAACCCACCCACC CCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGT GAGCCCACCCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAACCCAC CCACCCCCTCTGTGAACCCACCCACTCCCTCTGTGAGCCCACCCACCCCC TCTGTGAACCCACCCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAG CCCACCCACCCCCTCTGTGAACCCACCCACCCCCTCTGTGAACCCACCCA CTCCCTCTGTGAACCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCT GTGAACCCACCCACTCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCC ACCCACTCCCTCTGTGAACCCACCCACCCCCTCTGTGAGCCCACCCACCC CCTCTGTGAACCCACCCACCCCCTCTGTGAGCCCACCCACCCCCTCTGTG AACCCACCCACTCCCTCTGTGAACCCACCCACTCCCTCTGTGAACCCACC CACCCCCTCTGTGAGCCCACCCACCCCCTCTGTGAACCCACCCACTCCCT CTGTGAACCCACCCACTCCCTCTGTGAGC	TMEM179	ENSG00000258986.7	transcript	ENST00000556573.6	protein_coding	1/3			chr14	TogoVar
TMPRSS2_chr21_41459305_41513158	41474530	G G	GGTGAGGG others(602): Show GGTGAGGGAGTGAGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAG GAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGG GGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAG GGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGG GGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAG TGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGG GGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGGGGTGAGGGAG TGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAGGAGGTGAGGG GGTGAGTGAGGGGGTGAGGGGGTGAGGGAGTGAGTGAGGGGTTGGGTGAG GAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGTGAGTGAGGGGGTGAGGG GGTGAGGGAGTGAGTGAGGGGGTGGGTGAGGAGGTGAGGGGGTGAGTGAG GAGGTGAGGGGGTGAGTGAGGAGGTGAGGGGGGTGAGTGAGGGGGTGAGG GGGTGAAGGC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0288 a0001c0010t0001g0288	1	257	0.0039	609	c.728 others(626): Show c.728-1035_728-1034insGCCTTCACCCCCTCACCCCCTCACTCAC CCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACC TCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCA CCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCAACCCCTCACT CACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCA CCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACC CCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACTCA CCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCACCCCCTCACC CCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACCTCCTCACCCA CCCCCTCACTCACTCCCTCACCCCCTCACCCCCTCACTCACCCCCTCACC TCCTCACTCACCCCCTCACCTCCTCACCCACCCCCTCACTCACTCCCTCA CCCCCTCACCCCCTCACTCACCCCCTCACCTCCTCACTCACCCCCTCACC TCCTCACTCACCCCCTCACTCACTCCCTCAC	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(602): Show CTCTCCCCTCCCCTCTCCCCCCCCTCCCCTCTCCTCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCT CCCCTCTCCCCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTC CCCTCTCCCCTCTCCCCTACCCTCTCCCCTCTCCCCTCCCCTCTCCCCTC CCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTGTCCTCCCCT CCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCC CTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCT CCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCC CATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTC CCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCT CCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	46	0.0217	609	c.-25 others(628): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCCCCCTCCCC TCTCCTCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCT CTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCC TCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTACCCTCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCC TCCCCTTCTCTGTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCT CCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTC CCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCT CTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCT CCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTC CCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTC CCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TRAPPC12_chr2_3374694_3484565	3438060	A A	AATCACCC others(602): Show AATCACCCATGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCA CCCCAGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCC TGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGAT TAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCCTGGATTAAT ACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCC ATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGG ATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT CCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCC CCATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATACCCCATCA CCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCC TGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAGCCCTGGA TTAATACCCC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0027 a0001c0047t0001g0027	1	159	0.0063	609	c.141 others(628): Show c.1418-5712_1418-5711insATGGATTAATCCCCCCATCACCCCAG GATTAATACCCCATCACCCCAGGATTAATCCCCCAATCACCCCTGGATTA ATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCC CCCATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCA TCACCCCTGGATTAATACCCCATCACCCCAGGATTAATACCCCATCACCC CTGGATTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGAA TTAATCCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT ACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCA TCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCAC CCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCACCCCAG GATTAATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTA ATCCCCCAATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCC CCCCATCAGCCCTGGATTAATACCCCATCACCC	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAPPC12_chr2_3374694_3484565	3438060	A A	AATCACCC others(602): Show AATCACCCCTGGATTAATCCCCCCATCACCCCAGGATTAATACCCCATCA CCCCAGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCACCCC TGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACCCCTGGAT TAATCCCCCAATCACCCCTGGATTAATACCCCCATCACCCCTGGATTAAT ACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGATTAATCCCCCC ATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAATCCCCCCATCAC CCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGG ATTAATACCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAAT CCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCC CCATCACCCCAGGATTAATACCCCATCACCCCAGGATTAATACCCCATCA CCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCC TGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCATCAGCCCTGGA TTAATACCCC	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0001 a0002c0009t0001	a0002c0009t0001g0293 a0002c0009t0001g0293	1	159	0.0063	609	c.141 others(628): Show c.1418-5657_1418-5656insCCCCCAATCACCCCTGGATTAATCCC CCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCAT CACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATACCCCCATCACC CCTGGATTAATACCCCATCACCCCAGGATTAATACCCCATCACCCCTGGA TTAATCCCCCCATCACCCCTGGATTAATCCCCCATCACCCCTGAATTAAT CCCCCCATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCC ATCACCCCTGGATTAATACCCCATCACCCCTGGATTAATACCCCATCACC CCTGGATTAATCCCCCCACCACCCCTGGATTAATCCCCCAATCACCCCTG GATTAATCCCCCCATCACCCCAGGATTAATACCCCATCACCCCAGGATTA ATACCCCATCACCCCTGGATTAATCCCCCCACCACCCCTGGATTAATCCC CCAATCACCCCTGGATTAATCCCCCAATCACCCCTGGATTAATCCCCCCA TCAGCCCTGGATTAATACCCCATCACCCCTGGATTAATCCCCCCATCACC CCAGGATTAATACCCCATCACCCCAGGATTAAT	TRAPPC12	ENSG00000171853.16	transcript	ENST00000324266.10	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRIML1_chr4_188134441_188152743	188152432	T T	TGAGAAGG others(602): Show TGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGAG AGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAA GGGGAGTGAGAGAGGGGTTGAGAAAGGGAGTGAGAGTGGGGGTGAGAAGG GGAGTGAGAGAGGGGTTGAGAAAGGGAGTGAGAGTGGGGGTGAGAAGGGG AGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAG TGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTG AGAGTGGGGGTGAGAAGGGAGTGAGAGAGGGGGTGAGAAGGGAAATGAGA GTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGT GGGGGTGAGAAGGGAGTGTGAGAGGGAGGGAGAGAGGGGTGAGAGAGGGT GAAGGGAGTGAGAGAGGGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAG GGAGTGAGAGTGGGGTGAGAAGGGAGTGAGAGTGGGGTGAGAAGGGAGTG AGAGTGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0084 a0001c0010t0001g0084	1	215	0.0047	609	c.50 others(620): Show c.5060_*5061insGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGA GTGAGAGTGGGGGAGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGT GAGAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGA GAGTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAAGGGAGTGAGA GTGGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAAGGGAGTGAGAGT GGGGGTGAGAAGGGGAGTGAGAGAGGGGTTGAGAAGGGGAGTGAGAGTGG GGGTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGGAGTGAGAGTGGGG GTGAGAAGGGGAGTGAGAGTGGGGGTGAGAAGGGAGTGAGAGAGGGGGTG AGAAGGGAAATGAGAGTGGGGCTGAGAAGGGGAGTGAGAGTGGGGGTGAG AAGGGGAGTGAGAGTGGGGGTGAGAAGGGAGTGTGAGAGGGAGGGAGAGA GGGGTGAGAGAGGGTGAAGGGAGTGAGAGAGGGGTGAGAAGGGGAGTGAG AGTGGGGGTGAGAAGGGAGTGAGAGTGGGGTGAGAAGGGAGTGAGAGTGG GGTGAGAAGGGAGTGAGAGTGGGGG	TRIML1	ENSG00000184108.8	transcript	ENST00000332517.4	protein_coding		4690		chr4	TogoVar
TTLL8_chr22_50013575_50063298	50028765	C C	CCTCGTAA others(602): Show CCTCGTAAAGACCCCCATCACACCGTCCTGAAGACCCCCACACACCCTCG TAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGAC CCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCA CACCGTCCTGAAGACCCCCACACACCCTCGTAAAGACCCCATCACACCGT CCTGAAGACCCCCACACACACTCGTAAAGACCCCATCACACCGTCCTGAA GACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCC ACACACACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCCACACAC ACTCGTAAAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTA AAGACCCCATCACACCGTCCTGAAGACCCCACACACCCTCGTAAAGACCC CATCACACCGTCCTAAAGACCCCCACACACACTCGTAAAGACCCCATCAC ACCATCCTGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCC TGAAGACCCCACACACCCTCGTAAAGACCCCATCACACCGTCCTGAAGAC CCCACACACA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG02027.hp2 HG02135.hp2 others(11): Show HG00673.hp1 HG02027.hp2 HG02135.hp2 HG02280.hp2 HG02523.hp2 HG03669.hp2 NA18947.hp1 NA18951.hp2 NA18952.hp1 NA18980.hp1 NA18986.hp2 NA19000.hp1 NA19066.hp2 NA19067.hp1	a0002 a0003 a0008 a0002 a0003 a0008	a0002c0002 a0003c0003 a0008c0008 a0002c0002 a0003c0003 a0008c0008	a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 others(1): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0008c0008t0001	a0002c0002t0001g0182 a0003c0003t0001g0076 a0003c0003t0001g0081 others(11): Show a0002c0002t0001g0182 a0003c0003t0001g0076 a0003c0003t0001g0081 a0003c0003t0001g0084 a0003c0003t0001g0085 a0003c0003t0001g0086 a0003c0003t0001g0093 a0003c0003t0001g0148 a0003c0003t0001g0154 a0003c0003t0001g0163 a0003c0003t0001g0166 a0003c0003t0002g0160 a0008c0008t0001g0164 a0008c0008t0001g0165	14	166	0.0843	609	c.225 others(628): Show c.2251+1664_2251+1665insTGTGTGTGGGGTCTTCAGGACGGTGT GATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGG TCTTTACGAGGGTGTGTGGGGTCTTCAGGATGGTGTGATGGGGTCTTTAC GAGTGTGTGTGGGGGTCTTTAGGACGGTGTGATGGGGTCTTTACGAGGGT GTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGG GTCTTCAGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTC AGGACGGTGTGATGGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGACG GTGTGATGGGGTCTTTACGAGGGTGTGTGGGGTCTTCAGGACGGTGTGAT GGGGTCTTTACGAGTGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTC TTTACGAGGGTGTGTGGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACG AGGGTGTGTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGT GTGGGGTCTTCAGGACGGTGTGATGGGGTCTTTACGAGGGTGTGTGGGGG TCTTCAGGACGGTGTGATGGGGGTCTTTACGAG	TTLL8	ENSG00000138892.12	transcript	ENST00000433387.2	protein_coding	13/13			chr22	TogoVar
TWIST2_chr2_238843085_238915534	238870204	A A	ACCACACC others(602): Show ACCACACCCCACACACACCACACACCCCACACACACCACACACCCTACAC ACCCCACACACACCACACCCCACACACACCACACCCCATACACACCACAC CCCACACACACCACACACCCCACACACACCACACACCCCCCCACACCACA CCCCATACACACCACACACCACACCCCACACACACCACACCCCACACACA CCACACCCCACACACACCACACACCCCACACACACCACACCCCACACACA CCACACACCCCACACACACCACACACCCCACACACACCACACCCCACACA CACCACACAAACCACACACCCTACACACCCCACACACACCACACACCACA CACACCCCACACACACCACACCCCACACACACCACACACCCCCCACACAC ACCACACCCCATACACACCACACCCCACACACACCACACCCCATACACAC CACACACCCCACACACACCACACACCCCACACACACCACACCCCATACAC ACCACACCCCCCACACACCACACACCCCACACACACCACACCCCATACAC ACCACACCCCACACACACCACACACCCCACACACACCACACCCCATACAC ACCACACACC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	328	0.0030	609	c.35 others(628): Show c.35+21477_*35+21478insCCCACACACACCACACACCCCACACA CACCACACACCCTACACACCCCACACACACCACACCCCACACACACCACA CCCCATACACACCACACCCCACACACACCACACACCCCACACACACCACA CACCCCCCCACACCACACCCCATACACACCACACACCACACCCCACACAC ACCACACCCCACACACACCACACCCCACACACACCACACACCCCACACAC ACCACACCCCACACACACCACACACCCCACACACACCACACACCCCACAC ACACCACACCCCACACACACCACACAAACCACACACCCTACACACCCCAC ACACACCACACACCACACACACCCCACACACACCACACCCCACACACACC ACACACCCCCCACACACACCACACCCCATACACACCACACCCCACACACA CCACACCCCATACACACCACACACCCCACACACACCACACACCCCACACA CACCACACCCCATACACACCACACCCCCCACACACCACACACCCCACACA CACCACACCCCATACACACCACACCCCACACACACCACACACCCCACACA CACCACACCCCATACACACCACACACCCCACAC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar

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