Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
DCDC2_chr6_24166755_24363059	24238175	A A	AGGGAGGG others(380): Show AGGGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAT GAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGAATGG AGGGATGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGA GGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGA GGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGGGAAGGGG AAGGGGAGGGGGAGGGGAAGGGGGAGACAGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0149 a0003c0003t0002g0149	1	97	0.0103	387	c.923 others(406): Show c.923-33074_923-33073insCCTCCCCTCTGTCTCCCCCTTCCCCT CCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCC CTCCCCTTCCCCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCCC CTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTTCATTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTCCCT TCCTCCCTCCC		DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9						chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238177	G G	GGAGGGAG others(380): Show GGAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGGGAGGGAGGAAT GAAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGGAGGAATGGAGGAATGG AGGGATGGGGAGGGAGGGGGAGGGGAGGGGGAGGGGAGTGGAAGGGGGAG GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGGGAGGGGGGAGGG GAGGGGGAGGGGGAGGAGGGGAGGGGAGGGGGAGGGGAGGGGTGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAAGGGGGAGGGGAGGGGGGA GGGGGAGGGGGAAGGGGAGGGGGAGGGGAAGGGGAAGGGGAGGGGGAGGG GAAGGGGGACGGGGAGGGGGAGGGGTAAGGGGGAGACA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0126 a0002c0004t0003g0126	1	213	0.0047	387	c.923 others(406): Show c.923-33076_923-33075insTGTCTCCCCCTTACCCCTCCCCCTCC CCGTCCCCCTTCCCCTCCCCCTCCCCTTCCCCTTCCCCTCCCCCTCCCCT TCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCACCCCTCCCCTCCCCCTCCCCTCCCCTCCTC CCCCTCCCCCTCCCCTCCCCCCTCCCCCCTCCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCCCCCTCC CTCCCCATCCCTCCATTCCTCCATTCCTCCCTCCCTCCCTCCCTTCCTCC CTCCCTCCCTTCATTCCTCCCTCCCCCTCCCTTCATTCCTCCCTCCCTCC CTTCCTCCCTC		DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9						chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238178	G G	GAGGGAGG others(380): Show GAGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAA TGGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGG GGAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGG GGGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGG AGGGGGAGGGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGAGGG GGAGGGGAAGGGGAGGGGGGAGGGGGAGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01074.hp2 NA18948.hp2 NA18962.hp1 others(3): Show HG01074.hp2 NA18948.hp2 NA18962.hp1 NA18989.hp2 NA19065.hp2 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0064 a0002c0002t0003g0109 a0002c0002t0003g0121 others(3): Show a0002c0002t0003g0064 a0002c0002t0003g0109 a0002c0002t0003g0121 a0002c0002t0003g0122 a0002c0002t0003g0123 a0002c0002t0003g0128	6	202	0.0297	387	c.923 others(406): Show c.923-33077_923-33076insTCCCCTCCCCCTCCCCCTCCCCCCTC CCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCCTC CCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTTC CCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCACCCTTCCACTC CCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCCC TCCCTCCCTCCATTCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCTC CCTTCCTCCCT		DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9						chr6	TogoVar
DCDC2_chr6_24166755_24363059	24238179	A A	AGGGAGGA others(380): Show AGGGAGGAAGGGAGGGAGGGAGGAATGAAGGGAGGGAGGGAGGAAGGAAT GGAGGGAGGGAGGGAGGAATGGAGGAATGGAGGGATGGGGAGGGGGAGGG GAGGGGGAGGGGAGTGGAAGGGTGAGGGGAGGGGGAGGGGAGTGGAAGGG GGAGGGGAGGGGAAGGGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGGAGG GGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGGGAGGGGGAGGGGAGGGGAAGGGGAGGGGGAGGGGAGGGG GAGGGGAAGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03942.hp2 HG03688.hp2 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0029 a0002c0002t0003g0105 a0002c0002t0003g0029 a0002c0002t0003g0105	2	198	0.0101	387	c.923 others(406): Show c.923-33078_923-33077insCTCCCCCTCCCCCTCCCCCTCCCCCT CCCCTTCCCCTCCCCCTCCCCTCCCCCTCCCCTTCCCCTCCCCTCCCCCT CCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTT CCCCTCCCCTCCCCCTTCCACTCCCCTCCCCCTCCCCTCACCCTTCCACT CCCCTCCCCCTCCCCTCCCCCTCCCCATCCCTCCATTCCTCCATTCCTCC CTCCCTCCCTCCATTCCTTCCTCCCTCCCTCCCTTCATTCCTCCCTCCCT CCCTTCCTCCC		DCDC2	ENSG00000146038.12	transcript	ENST00000378454.8	protein_coding	7/9						chr6	TogoVar
DDX51_chr12_132131594_132149319	132135567	T T	TCCCGAGT others(380): Show TCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCA CGGTGCCCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTCCT CCCACCTCCCGAGTGTGCCCCGGTGCCCGCTCCTCCCACCTCCCGAGTGT GCCCACAGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGCCCGCT CCTCCCACCTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCCG AGTGTGCCCACGGTGCCCGCTCCTCCCACCTCCCGAGTGTGCCCCGGTGC CCGCTCCTCCCACCTCCCCGAGTGTGCCCACGGTGCCCGCTACCTCCCAC CTCCCGAGTGTGCCCACGGTGCCCGCTCCTCCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	310	0.0032	387	c.37 others(398): Show c.3704_*3705insGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCG GGAGGTGGGAGGTAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGA GCGGGCACCGGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGCA CACTCGGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTCGGGAGGTGG GAGGAGCGGGCACCGGGGCACACTCGGGAGGTGGGAGGAGCGGGCACTGT GGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGGGGCACACTCGGGAGG TGGGAGGAGCGGGCACCGTGGGCACACTCGGGGAGGTGGGAGGAGCGGGC ACCGTGGGCACACTCGGGAGGTGGGAGGAGCGGGCACCGTGGGCACACTC GGG		DDX51	ENSG00000185163.10	transcript	ENST00000397333.4	protein_coding					1026		chr12	TogoVar
DIP2C_chr10_269201_694668	608541	C C	CCCCCACA others(380): Show CCCCCACAACACACACACACCCCCCCCCACACACACACACCCCCCCCCCA CACACACACACCCCCCCCCACACACACACACCCCCCCACACACACACACC CCCCCCCACACACACACCCCCCCCACACACACACCCCCCCCACACACACA CCCCCCCCACACACACACACCCCCCCCACACACACACACCCCCCCCCACA CACACACACCCCCCCACACACACACACACCCCCCCCCACACACACACCCC CCCCACACACACACACATCCCCCCCCCACACACACACACATCCCCCCCCA CACACACACACATCCCCCCCACACACACACACATCCCCCCCCACACACAC ACACATCCCCCCCCACACACACACACATCCCCCCCCCA	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0068 a0001c0002t0002g0068	1	73	0.0137	387	c.85+ others(404): Show c.85+80952_85+80953insTGGGGGGGGGATGTGTGTGTGTGTGGGG GGGGATGTGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGATG TGTGTGTGTGTGGGGGGGGATGTGTGTGTGTGTGGGGGGGGGATGTGTGT GTGTGTGGGGGGGGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGTGGGGG GGTGTGTGTGTGTGGGGGGGGGTGTGTGTGTGTGGGGGGGGTGTGTGTGT GTGGGGGGGGTGTGTGTGTGGGGGGGGTGTGTGTGTGGGGGGGGTGTGTG TGTGGGGGGGGGTGTGTGTGTGTGGGGGGGTGTGTGTGTGTGGGGGGGGG TGTGTGTGTGTGGGGGGGGGGTGTGTGTGTGTGGGGGGGGGTGTGTGTGT GTTGTGGGG		DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	1/36						chr10	TogoVar
DLGAP2_chr8_732628_1713476	1013921	C C	CGCCTCCA others(380): Show CGCCTCCACTGTGTGAGACCAGGACAGACGATGCCTCCACTGTGTGTATG ACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAGACGGCGCCT CCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGTATGACC AGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGCCTCCAT TGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGTGACCAGGA CAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACT GTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGAGACCAGGACAG ACGATGCCTCCACTGTGTGTATGACCAGGACAGACGGT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0017 a0001c0003t0017	a0001c0003t0017g0004 a0001c0003t0017g0004	1	36	0.0278	387	c.73+ others(406): Show c.73+105969_73+105970insAGACCAGGACAGACGATGCCTCCACT GTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTGACCAGGACAG ACGGCGCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTG TGTATGACCAGGACAGACGGCGCCTCCACTGTGTGTGTGACCAGGACAGA CGCCTCCATTGTGTGTATGACCAGGACAGACGACGCCTCCACTGTGTGTG TGACCAGGACAGACGGTGCCTCCACTGTGTGTGTGACCAGGACAGACGGC GCCTCCACTGTGTGTGTGACCAGGACAGACGGCGCCTCCACTGTGTGAGA CCAGGACAGACGATGCCTCCACTGTGTGTATGACCAGGACAGACGGTGCC TCCACTGTGTG		DLGAP2	ENSG00000198010.13	transcript	ENST00000637795.2	protein_coding	2/14					INFO_REALIGN_3_PRIME	chr8	TogoVar
DOCK8_chr9_209865_470255	400616	T T	TCCACCAC others(380): Show TCCACCACCATCACCACCACCTCCACCATCACCACCACCTCCACCATCAC CACCACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCA CCATCACCATCACCACCACCTCCACCATCACCACCTCCTCCACCATCACC ACCACCTCCACCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCAT CACCACCTCCACCATCACCATCACCACCACCTCCACCATCACCACCTCCT CCACCATCACCACCACCTCCACCATCACCACCACCACCTCCACCACCACC ACCACCTCCACCATCACCACCACCTCCACCATCACCACCACCACCTCCAC CACCACCACCACCTCCACCATCACCACCACCACCTCCA	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0183 a0006c0011t0001g0183	1	136	0.0074	387	c.323 others(406): Show c.3234+1402_3234+1403insTCACCACCACCACCTCCACCATCACC ACCACCTCCACCATCACCACCACCTCCACCATCACCATCACCACCACCTC CACCATCACCACCTCCTCCACCATCACCACCACCTCCACCACCACCACCT CCCCCACTACCAACAGCTCCTTCACCATCACCACCTCCACCATCACCATC ACCACCACCTCCACCATCACCACCTCCTCCACCATCACCACCACCTCCAC CATCACCACCACCACCTCCACCACCACCACCACCTCCACCATCACCACCA CCTCCACCATCACCACCACCACCTCCACCACCACCACCACCTCCACCATC ACCACCACCACCTCCACCACCACCATCACCACCACCTCCACCATCACCAC CACCTCCACCA		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47					INFO_REALIGN_3_PRIME	chr9	TogoVar
DOCK8_chr9_209865_470255	400826	A A	ACCACCAC others(380): Show ACCACCACCTCCTCCACCACCACCACCTCCTCCACCATCACCACCACCTC CACCATCACCACCACCTCCACCACCACCACCTCCTCCACCACCACCACCT CCTCCACCACCACCACCTCCTCCACCACCACCACCACCTCCCCCACTACC AACAGCTCCTTCACCATCACCACAACATCCACCACCACCATCACCACCAC CTCCACCATCACCTCCACCACCACCACCTCCTCCACCATCACCACCAGCT CCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCACCACC TCCACCACCACCACCTCCTCCACCATCACCACCAGCTCCACCATCACCAC CACCTCCACCATCACCACCACCTCCACCACCACCACCT	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0008 a0008	a0008c0118 a0008c0118	a0008c0118t0001 a0008c0118t0001	a0008c0118t0001g0036 a0008c0118t0001g0036	1	224	0.0045	387	c.323 others(406): Show c.3234+1567_3234+1568insCCACCACCTCCTCCACCACCACCACC TCCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCACCACCAC CACCTCCTCCACCACCACCACCTCCTCCACCACCACCACCTCCTCCACCA CCACCACCACCTCCCCCACTACCAACAGCTCCTTCACCATCACCACAACA TCCACCACCACCATCACCACCACCTCCACCATCACCTCCACCACCACCAC CTCCTCCACCATCACCACCAGCTCCACCATCACCACCACCTCCACCATCA CCACCACCTCCACCACCACCACCTCCACCACCACCACCTCCTCCACCATC ACCACCAGCTCCACCATCACCACCACCTCCACCATCACCACCACCTCCAC CACCACCACCT		DOCK8	ENSG00000107099.18	transcript	ENST00000432829.7	protein_coding	26/47						chr9	TogoVar
DPYSL2_chr8_26509031_26663175	26556306	G G	GTATATAT others(380): Show GTATATATATAGTATATATATAGTATATATATAGTATATATATACTATAT ATATAGTATATATATATAGTATATATATAGTATATATATAGTATATATAT AGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATA TATATAGTATATATAGTATATATATATAGTATATATATAGTATATATATA GTATATATATATAGTATATATATAGTATATATATATAGTGTATATATATA GTATATATATAGTGTATATATATAGTATATATATAGTATATATATAGTAT ATATAGTATATATGTATATATATATAGTATATATATAGTATATATATATA GTATATATATAGTATATATATATAGTATATATATAGTA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0129 a0001c0003t0009g0129	1	286	0.0035	387	c.355 others(406): Show c.355-25653_355-25652insGTATATATATAGTATATATATAGTAT ATATATACTATATATATAGTATATATATATAGTATATATATAGTATATAT ATAGTATATATATAGTATATATATAGTATATATATAGTATATATATAGTA TATATATAGTATATATATAGTATATATAGTATATATATATAGTATATATA TAGTATATATATAGTATATATATATAGTATATATATAGTATATATATATA GTGTATATATATAGTATATATATAGTGTATATATATAGTATATATATAGT ATATATATAGTATATATAGTATATATGTATATATATATAGTATATATATA GTATATATATATAGTATATATATAGTATATATATATAGTATATATATAGT ATATATATATA		DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr8	TogoVar
EML1_chr14_99788413_99947060	99927972	A A	ATGGTGGT others(380): Show ATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGAGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTG ATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGG TGGTGGTGGTGGTGATGGTGATGGTGGTGGAGGTGGTGGTGGTGGTGATG GTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTGGTGGTGGT GGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGG	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0085 a0002c0001t0002g0085	1	180	0.0056	387	c.190 others(406): Show c.1909+7110_1909+7111insAGGTGGTGGTGGTGGTGGTGGTGGTG GTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGA GGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGG TGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGT GGTGATGGTGGTGGTGGTGGTGATGGTGATGGTGGTGGAGGTGGTGGTGG TGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGAGGTG GTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML1_chr14_99788413_99947060	99927993	G G	GTGGTGGT others(380): Show GTGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGTGGTGGTGGTGATGGT GGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGG TGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGGTGGTGATGGTG GTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0001 a0003c0002t0001	a0003c0002t0001g0182 a0003c0002t0001g0182	1	285	0.0035	387	c.190 others(406): Show c.1909+7128_1909+7129insTGATGGTGGTGGTGGTGATGGTGGTG GTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGATGGT GGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGG TGATGGTGGTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTG GTGGTGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGT GGTGGTGGTGGTGATGGTGGTGATGGTGGTGATGGTGGTGGTGGTGATGG TGGTGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGGTG GTGGTGGTGATGGTGGTGGTGGTGGAGGTGGTGGTGGTGGTGGTGGTGAT GGTGGTGGTGG		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
ESYT2_chr7_158725997_158834509	158729655	G G	GGCAAGTG others(380): Show GGCAAGTGTGGAGGTGCTGGGGGGGAGGAGCAAGTGTGGAGGTGCTGGGG GGGAGGAGCAAGTGTGGAGGTGCTGGGGGGGAGGAGCAAGTGTGGAGGTG CTGGGGGGAGGAGCAGGTATGGAGGTGCTGGGGAGAGGGGCAAGTGTGGA GGTGCTGGGGGGGAGGAGCAAGTGTGGAGGTGCTGGGGGGGAGGAGCAAG TGTGGAGGTGCTGGGGGGAGGAGCAGGTATGGAGGTGCTGGGGAGAGGGG CAAGTGTGGAGGTGCTGGGGGGGAGGAGCAAGTGTGGAGGTGCTGGGGGG GAGGAGCAAGTGTGGAGGTGCTGGGGAGAGGGGCAAGTGTGGAGGTGCTG GGGGGGAGGAGCAAGTGTGGAGGTGCTGGGGGGGAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0191 a0003c0003t0004g0191	1	260	0.0038	387	c.45 others(398): Show c.4551_*4552insTCCTCCCCCCCAGCACCTCCACACTTGCTCCTCC CCCCCAGCACCTCCACACTTGCCCCTCTCCCCAGCACCTCCACACTTGCT CCTCCCCCCCAGCACCTCCACACTTGCTCCTCCCCCCCAGCACCTCCACA CTTGCCCCTCTCCCCAGCACCTCCATACCTGCTCCTCCCCCCAGCACCTC CACACTTGCTCCTCCCCCCCAGCACCTCCACACTTGCTCCTCCCCCCCAG CACCTCCACACTTGCCCCTCTCCCCAGCACCTCCATACCTGCTCCTCCCC CCAGCACCTCCACACTTGCTCCTCCCCCCCAGCACCTCCACACTTGCTCC TCCCCCCCAGCACCTCCACACTTGCTCCTCCCCCCCAGCACCTCCACACT TGC		ESYT2	ENSG00000117868.18	transcript	ENST00000275418.13	protein_coding					1341		chr7	TogoVar
ETDB_chrX_135113955_135125526	135115020	T T	TATATATA others(380): Show TATATATAATTATATATGATATATAATTATATATATTACATATCATATAT AATCTTAATATATTATATATTATATTATATATTATTATATATAATATATT ATATATTACATAACATATATATTATTATAATATATAATATATTATATATT ATATTATATATAATAATATATAATATGTTATATTATATATTATATATAAT AATATGTAATATATAATTATATTATATACTATTATAATAATTATAATAAT ATTAATATTATATTATAATTATAATAGACACATATAATAATAATTATAAT AATTAGCAGATTATTTTATAATAATATTATATAATATGTATTAATAACAT ATAATATAATATACAATCTATTACTATATAATGTATTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02109.hp2 HG02280.hp2 others(5): Show HG01109.hp1 HG02109.hp2 HG02280.hp2 HG02572.hp1 HG02622.hp2 HG02723.hp1 HG02970.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	8	11	0.7273	387	c.40 others(398): Show c.4061_*4062insTAATACATTATATAGTAATAGATTGTATATTATA TTATATGTTATTAATACATATTATATAATATTATTATAAAATAATCTGCT AATTATTATAATTATTATTATATGTGTCTATTATAATTATAATATAATAT TAATATTATTATAATTATTATAATAGTATATAATATAATTATATATTACA TATTATTATATATAATATATAATATAACATATTATATATTATTATATATA ATATAATATATAATATATTATATATTATAATAATATATATGTTATGTAAT ATATAATATATTATATATAATAATATATAATATAATATATAATATATTAA GATTATATATGATATGTAATATATATAATTATATATCATATATAATTATA TAT		ETDB	ENSG00000224107.5	transcript	ENST00000423661.1	protein_coding					3934		chrX	TogoVar
EXD3_chr9_137301896_137428162	137322720	C C	CCACCCCA others(380): Show CCACCCCAGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAG GGATGCTCTGCCAATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGA CGCCTTGCCCCGGAACCATGAGGGATGCTCTGCCGACACCCCACCCCAGA CCCCGAGGAATTCTTTGCCGACACCTCACCCCAGACCCACGAGGGATTCT CTGCCGACGCCTCACCCTGGACCAGGGATGCTCTGCCGACACCTCACCCC GGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGA TGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACAC CTCACCCCGGAATCATGAGGGATGCTCTGCCGATACCT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0001 a0006c0018t0001	a0006c0018t0001g0029 a0006c0018t0001g0029	1	79	0.0127	387	c.218 others(406): Show c.2184+1004_2184+1005insAGGTATCGGCAGAGCATCCCTCATGA TTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGT GTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATC CCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTGGTCCAGGGTG AGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCGGCAAAG AATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCATGGTTC CGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGAGGTATT GGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTG GGTCTGGGGTG		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137322727	A A	AGACCCAC others(380): Show AGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCT CTGCCAATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTG CCCCGGAACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAG GAATTCTTTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGA CGCCTCACCCTGGACCAGGGATGCTCTGCCGACGCCTCACCCCGGACCCA CGAGGGATGCTCTGCCAACACCTCACCCCGGACCCACGAGGGATGCTCTG CCGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCC CGGACCCACGAGGGATGCTCTGCCGACACCCCACCCCG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	36	0.0278	387	c.218 others(404): Show c.2184+997_2184+998insCGGGGTGGGGTGTCGGCAGAGCATCCCT CGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGT GAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTTGGCAGA GCATCCCTCGTGGGTCCGGGGTGAGGCGTCGGCAGAGCATCCCTGGTCCA GGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCGG CAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCAT GGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGAG GTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAGCATCCC TCGTGGGTC		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137322727	A A	AGACCCAC others(380): Show AGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCT CTGCCAATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTG CCCCGGAACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAG GAATTCTTTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGA CGCCTCACCCTGGACCAGGGATGCTCTGCCGACGCCTCACCCCGGACCCA CGAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTG CCGACACCCCACCCCGGACCCACGAGGGATGCTCTGCCGACACCCCACCC CGGACCCACGAGGGATGCTCTGCCGACACCCCACCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01993.hp2 HG00099.hp1 HG01993.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0059 a0002c0002t0001g0056 a0001c0001t0001g0059 a0002c0002t0001g0056	2	37	0.0541	387	c.218 others(404): Show c.2184+997_2184+998insCGGGGTGGGGTGTCGGCAGAGCATCCCT CGTGGGTCCGGGGTGGGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGT GGGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGA GCATCCCTCGTGGGTCCGGGGTGAGGCGTCGGCAGAGCATCCCTGGTCCA GGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCGG CAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCAT GGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGAG GTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAGCATCCC TCGTGGGTC		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137322727	A A	AGACCCAC others(380): Show AGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCT CTGCCAATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTG CCCCGGAACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAG GAATTCTTTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGA CGCCTCACCCTGGACCAGGGATGCTCTGCCGACGCCTCACCCCGGACCCA CGAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTG CCGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCCCACCC CGGACCCACGAGGGATGCTCTGCCGACACCCCACCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01975.hp1 HG02004.hp1 others(1): Show HG00280.hp2 HG01975.hp1 HG02004.hp1 HG03669.hp2	a0003 a0012 a0017 others(1): Show a0003 a0012 a0017 a0019	a0003c0003 a0012c0011 a0017c0015 others(1): Show a0003c0003 a0012c0011 a0017c0015 a0019c0033	a0003c0003t0001 a0012c0011t0001 a0017c0015t0001 others(1): Show a0003c0003t0001 a0012c0011t0001 a0017c0015t0001 a0019c0033t0001	a0003c0003t0001g0068 a0012c0011t0001g0020 a0017c0015t0001g0073 others(1): Show a0003c0003t0001g0068 a0012c0011t0001g0020 a0017c0015t0001g0073 a0019c0033t0001g0017	4	39	0.1026	387	c.218 others(404): Show c.2184+997_2184+998insCGGGGTGGGGTGTCGGCAGAGCATCCCT CGTGGGTCCGGGGTGGGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGT GAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGA GCATCCCTCGTGGGTCCGGGGTGAGGCGTCGGCAGAGCATCCCTGGTCCA GGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCGG CAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCAT GGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGAG GTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAGCATCCC TCGTGGGTC		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137322727	A A	AGACCCAC others(380): Show AGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCT CTGCCAATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTG CCCCGGAACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAG GAATTCTTTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGA CGCCTCACCCTGGACCAGGGATGCTCTGCCGACGCCTCACCCCGGACCCA CGAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTG CCGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCC CGGACCCACGAGGGATGCTCTGCCGACACCCCACCCCG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00741.hp2 others(9): Show HG00099.hp2 HG00423.hp1 HG00741.hp2 HG01975.hp2 HG02165.hp1 HG02165.hp2 HG02647.hp2 HG02976.hp1 HG03041.hp2 HG03139.hp1 NA18999.hp2 NA19066.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0006 a0014 a0018 a0021 a0030	a0001c0001 a0002c0002 a0003c0003 others(6): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0005 a0014c0025 a0018c0016 a0021c0027 a0030c0026	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(7): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0006c0005t0001 a0014c0025t0001 a0018c0016t0001 a0021c0027t0001 a0030c0026t0001	a0001c0001t0001g0063 a0001c0001t0002g0001 a0002c0002t0001g0030 others(9): Show a0001c0001t0001g0063 a0001c0001t0002g0001 a0002c0002t0001g0030 a0002c0002t0001g0031 a0003c0003t0001g0025 a0003c0003t0001g0041 a0004c0004t0001g0027 a0006c0005t0001g0053 a0014c0025t0001g0072 a0018c0016t0001g0019 a0021c0027t0001g0064 a0030c0026t0001g0033	12	47	0.2553	387	c.218 others(404): Show c.2184+997_2184+998insCGGGGTGGGGTGTCGGCAGAGCATCCCT CGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGT GAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGA GCATCCCTCGTGGGTCCGGGGTGAGGCGTCGGCAGAGCATCCCTGGTCCA GGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCGG CAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCAT GGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGAG GTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAGCATCCC TCGTGGGTC		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137322727	A A	AGACCCAC others(380): Show AGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCT CTGCCAATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTG CCCCGGAACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAG GAATTCTTTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGA CGCCTCACCCTGGACCAGGGATGCTCTGCCGACGCCTCACCCCGGACCCA CGAGGGATGCTCTGCCGACACCTCACCCCGGGCCCACGAGGGATGCTCTG CCGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCC CGGACCCACGAGGGATGCTCTGCCGACACCCCACCCCG	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0037 a0003c0003t0001g0037	1	36	0.0278	387	c.218 others(404): Show c.2184+997_2184+998insCGGGGTGGGGTGTCGGCAGAGCATCCCT CGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGT GAGGTGTCGGCAGAGCATCCCTCGTGGGCCCGGGGTGAGGTGTCGGCAGA GCATCCCTCGTGGGTCCGGGGTGAGGCGTCGGCAGAGCATCCCTGGTCCA GGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCGG CAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCAT GGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGAG GTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAGCATCCC TCGTGGGTC		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137322727	A A	AGACCCAC others(380): Show AGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCT CTGCCAATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTG CCCCGGAACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAG GAATTCTTTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGA CGCCTCACCCTGGACCAGGGATGCTCTGCCGACGCCTCACCCCGGACCCA CGAGGGATGCTCTGCCGACGCCTCACCCCGGACCCACGAGGGATGCTCTG CCGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCC CGGACCCACGAGGGATGCTCTGCCGACACCCCACCCCG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	36	0.0278	387	c.218 others(404): Show c.2184+997_2184+998insCGGGGTGGGGTGTCGGCAGAGCATCCCT CGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGT GAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGCGTCGGCAGA GCATCCCTCGTGGGTCCGGGGTGAGGCGTCGGCAGAGCATCCCTGGTCCA GGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGGTGTCGG CAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATCCCTCAT GGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGGGGTGAG GTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAGCATCCC TCGTGGGTC		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137322733	A A	ACGAGGGA others(380): Show ACGAGGGATGCTCTGCCGACACCTCACCCCGGACCAGGGATGCTCTGCCA ATACCTCACCCCAGACCCACGAGGGATGCTCTGTCGACGCCTTGCCCCGG AACCATGAGGGATGCTCTGCCGACACCCCACCCCAGACCCCGAGGAATTC TTTGCCGACACCTCACCCCAGACCCACGAGGGATTCTCTGCCGACGCCTC ACCCTGGACCAGGGATGCTCTGCCGACACCTCACCCCGGACCCACGAGGG ATGCTCTGCCGACACCTCACCCCGGACCCACGAGGGATGCTCTGCCGACA CCTCACCCCGGACCCACGAGGGATGCTCTGCCGACACCTCACCCCGGACC CACGAGGGATGCTCTGCCGACACCCCACCCCGGACCCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0022 a0022	a0022c0030 a0022c0030	a0022c0030t0001 a0022c0030t0001	a0022c0030t0001g0015 a0022c0030t0001g0015	1	76	0.0132	387	c.218 others(404): Show c.2184+991_2184+992insGGGGTCCGGGGTGGGGTGTCGGCAGAGC ATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTC CGGGGTGAGGTGTCGGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTC GGCAGAGCATCCCTCGTGGGTCCGGGGTGAGGTGTCGGCAGAGCATCCCT GGTCCAGGGTGAGGCGTCGGCAGAGAATCCCTCGTGGGTCTGGGGTGAGG TGTCGGCAAAGAATTCCTCGGGGTCTGGGGTGGGGTGTCGGCAGAGCATC CCTCATGGTTCCGGGGCAAGGCGTCGACAGAGCATCCCTCGTGGGTCTGG GGTGAGGTATTGGCAGAGCATCCCTGGTCCGGGGTGAGGTGTCGGCAGAG CATCCCTCG		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	19/21						chr9	TogoVar
EXD3_chr9_137301896_137428162	137355710	A A	AGAAAGGG others(380): Show AGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAGG AGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGAGGAAGG AGGAAGGGAGGATGGAGGAAGGAGGAAGGAGGAAGGAGGATGGAGAAAGG AGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGA GAAGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGG AAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGAGGAAGGAGGAAGGAGG ATGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGGAAGGAGAAGAGGAAG GAGGAAGGAGGAAGGAGGAAGGAGAAAGGGAGGAAGGC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	63	0.0159	387	c.757 others(402): Show c.757+557_757+558insGCCTTCCTCCCTTTCTCCTTCCTCCTTCCT CCTTCCTCCTTCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCT TCCTCCTTCCTCCTTCCTCCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCT TCCTCTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCCTCCTTCC TCCTTCCTCCTTTCTCCATCCTCCTTCCTCCTTCCTCCTTCCTCCATCCT CCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCATCCT CCCTTCCTCCTTCCTCCTTTCTCCTTCCTCCTTCCTCCTTCCTCCTTCCT CCCTTTC		EXD3	ENSG00000187609.16	transcript	ENST00000340951.9	protein_coding	8/21						chr9	TogoVar
FER1L5_chr2_96637764_96709883	96659358	C C	CTTTCTTT others(380): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0155 a0002c0001t0001g0155	1	169	0.0059	387	c.748 others(402): Show c.748-981_748-980insTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCCTTTCTTTCCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT		FER1L5	ENSG00000249715.13	transcript	ENST00000624922.6	protein_coding	9/52					INFO_REALIGN_3_PRIME	chr2	TogoVar
FHIT_chr3_59742277_61256452	59986774	A A	ATATATTT others(380): Show ATATATTTATATAAATATATAAATATATTTATATAAATATATTTATATAA ATATATAAATATATTTATATAAATATATAAATATATTTATATAAATATAT AAATATAAATATATTTATATAATATATTTATATAAATATATAAATATATT TATATAAATATATAAATATATTTATATAAATATATAAATATATTTATATA AATATATAAATATATTTATATAAATATATAAATATAAATATATTTATATA AATATATAAATATAAATATATTTATATAAATATATAAATATAAATATATT TATATAAATATATAAATATAAATATATTATATAAATATATTTATATTTAT ATAATATATTTATATAAATATATAAATATAAATATATT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	32	0.0313	387	c.279 others(406): Show c.279+24596_279+24597insAATATATTTATATTTATATATTTATA TAAATATATTATATAAATATAAATATATTTATATAATATATTTATATTTA TATATTTATATAAATATATTTATATTTATATATTTATATAAATATATTTA TATTTATATATTTATATAAATATATTTATATTTATATATTTATATAAATA TATTTATATATTTATATAAATATATTTATATATTTATATAAATATATTTA TATATTTATATAAATATATTTATATATTTATATAAATATATTATATAAAT ATATTTATATTTATATATTTATATAAATATATTTATATATTTATATAAAT ATATTTATATATTTATATAAATATATTTATATAAATATATTTATATATTT ATATAAATATA		FHIT	ENSG00000189283.11	transcript	ENST00000492590.6	protein_coding	7/9						chr3	TogoVar
GABRG3_chr15_26966181_27546984	27388322	A A	AGAAGGAA others(380): Show AGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAA AGGAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAA AGGAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAA AGGAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAA GGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAA AGGAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGAAA GGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGAAGGAA AGGAGGAAGGAAGGAAAGGGAGGAGGGAGGGAGGAAAG	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	77	0.0130	387	c.574 others(406): Show c.574+59452_574+59453insAGGGAGGGAGGGTAAGGAAGGAAGGA AGGAAAGGAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGA AGGAAAGGAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGA AGGAAAGGAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGA AGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGA AGGAAAGGAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGA AGAAAGGAAGGAAGGAAGGAAAGGAGGGAGGGAGGGTAAGGAAGGAAGGA AGGAAAGGAGGAAGGAAGGAAAGGGAGGAGGGAGGGAGGAAAGGAAGGAA GGAAGGAAAGG		GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr15	TogoVar
GALR1_chr18_77244848_77282900	77252881	T T	TCACCACC others(380): Show TCACCACCATCACCACCACCACCACCATCACCACCACCACCACCACCACC ACCACCATCACCACCATCACCACCACCACCACCATCACCACCATCACCAC CACCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCA CCACCACCATCACCACCATCACCACCATCACCACCACCACCACCACCACC ACCACCACCACCACCACCACCACCACCATCACCACCACCACCACCACCAC CATCACCACCATCACCACCACCACCACCACCATCACCACCATCACCACCA CCACCACCACCACCATCACCACCATCACCACCACCACCACCACCACCACC ACCACCACCACCACCACCACCACCATCACCACCATCAC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0014 a0001c0002t0017g0014	1	326	0.0031	387	c.666 others(404): Show c.666+1675_666+1676insTCACCACCACCACCACCATCACCACCAC CACCACCACCACCACCACCATCACCACCATCACCACCACCACCACCATCA CCACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACC ACCACCATCACCACCACCACCATCACCACCATCACCACCATCACCACCAC CACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCA CCACCACCACCACCATCACCACCATCACCACCACCACCACCACCATCACC ACCATCACCACCACCACCACCACCACCATCACCACCATCACCACCACCAC CACCACCACCACCACCACCACCACCACCACCACCACCATCACCACCATCA CCACCACCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GALR1_chr18_77244848_77282900	77252992	C C	CCATCACC others(380): Show CCATCACCACCACCACCACCACCACCACCACCACCACCACCACCACCATC ACCACCACCACCATCACCACCATCACCACCACCACCATCACCACCACCAC CACCACCACCATCACCACCACCACCACCACCACCACCACCACCACCACCA TCACCACCACCACCACCACCACCACCACCACCACCACCACCATCACCACC ACCATCACCACCACCACCACCACCACCACCACCACCACCACCACCATCAC CACCACCACCACCATCACCACCACCATCACCATCACCACCACCATCACCA CCACCACCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ACCATCACCACCATCACCACCACCATCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	286	0.0035	387	c.666 others(404): Show c.666+1780_666+1781insTCACCACCACCACCACCACCACCACCAC CACCACCACCACCACCATCACCACCACCACCATCACCACCATCACCACCA CCACCATCACCACCACCACCACCACCACCATCACCACCACCACCACCACC ACCACCACCACCACCACCATCACCACCACCACCACCACCACCACCACCAC CACCACCACCATCACCACCACCATCACCACCACCACCACCACCACCACCA CCACCACCACCACCATCACCACCACCACCACCATCACCACCACCATCACC ATCACCACCACCATCACCACCACCACCACCACCACCACCACCATCACCAC CATCACCACCACCACCACCACCATCACCACCATCACCACCACCATCACCA CCACCATCA		GALR1	ENSG00000166573.6	transcript	ENST00000299727.5	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr18	TogoVar
GPBP1_chr5_57169059_57269673	57249840	C C	CCCGTCCT others(380): Show CCCGTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTCCCCCTCCTCT CCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCTTTCCCCTCCCCTCCTTC CACCTCCCCTTCCCCCCACCTCCTTCCGCCTCCCCCTACCCTTCCCCCTC ACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTCCTTCCCCTTCCCCATCC TCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCCCCTTCCCCACCTTCCCC CTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCCTTCCCCCTCCCCACCTT CCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCCTCCTTCCCCTTTCCCCC TTCCCCCTCCCCTCCTTCCCCCTTCCCCCCCCCTCCTT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01433.hp1 HG02300.hp1 others(1): Show HG01258.hp2 HG01433.hp1 HG02300.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0094	4	257	0.0156	387	c.972 others(402): Show c.972+266_972+267insGTCCTTCCCCCTCCCCTCCTTCCCCCTCCC CTCCTTCCCCCTCCTCTCCTTCCCCCTCCCCTCCTTCCCCCTCCCCTCCT TTCCCCTCCCCTCCTTCCACCTCCCCTTCCCCCCACCTCCTTCCGCCTCC CCCTACCCTTCCCCCTCACCTTCCCCTCATTCCCCCCTCCCCTTCCCCTC CTTCCCCTTCCCCATCCTCCTCCTTCCCCATCCTCTTCCTTCCCCCTCCC CCTTCCCCACCTTCCCCCTCCCCCTTCCCCTCCTTCCCCCTCCCTCCCCC TTCCCCCTCCCCACCTTCCCTGTCCCCCTCCTTCCCCCTTCCCCCTCCCC TCCTTCCCCTTTCCCCCTTCCCCCTCCCCTCCTTCCCCCTTCCCCCCCCC TCCTTCC		GPBP1	ENSG00000062194.16	transcript	ENST00000506184.7	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
HIVEP3_chr1_41501365_41923922	41544861	C C	CCACCACC others(380): Show CCACCACCACCACTACCACCTCTACCACCTCTACCACCACCACCACCACT ACCACCTCTACCACCACCATCATCACCACCACCACCATCACCTCTACCAC CACCATCACCACCACCACCACCATCACCACCATCATCACCACCACCACTA CCACCTCTACCACCACCATCACCACCACCACTATCACCACCTCTACTACC ACCATCACCACCACCACCACCATCACCTCTACCACCACCATCACCACCAC CACCACCATCACCACCATCACCACCACCACCACCATCACCACCACTACCA CCTCTACCACCACCATCACCACCACCACTACCACCACCACCACCACCACC ACCACCACTACCACCACTACCACCTCTACCACCACCAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG01167.hp1 others(6): Show HG00280.hp2 HG01106.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01433.hp2 HG02004.hp1 HG02735.hp1	a0001 a0017 a0001 a0017	a0001c0004 a0017c0033 a0001c0004 a0017c0033	a0001c0004t0006 a0001c0004t0007 a0001c0004t0012 others(5): Show a0001c0004t0006 a0001c0004t0007 a0001c0004t0012 a0001c0004t0080 a0001c0004t0081 a0001c0004t0083 a0001c0004t0084 a0017c0033t0011	a0001c0004t0006g0088 a0001c0004t0007g0087 a0001c0004t0012g0108 others(6): Show a0001c0004t0006g0088 a0001c0004t0007g0087 a0001c0004t0012g0108 a0001c0004t0012g0113 a0001c0004t0080g0104 a0001c0004t0081g0129 a0001c0004t0083g0105 a0001c0004t0084g0128 a0017c0033t0011g0095	9	125	0.0720	387	c.520 others(408): Show c.5208-19952_5208-19951insATGGTGGTGGTAGAGGTGGTAGTG GTGGTAGTGGTGGTGGTGGTGGTGGTGGTGGTGGTAGTGGTGGTGGTGAT GGTGGTGGTAGAGGTGGTAGTGGTGGTGATGGTGGTGGTGGTGGTGATGG TGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTG GTGGTGGTGATGGTGGTAGTAGAGGTGGTGATAGTGGTGGTGGTGATGGT GGTGGTAGAGGTGGTAGTGGTGGTGGTGATGATGGTGGTGATGGTGGTGG TGGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGATGATGGTG GTGGTAGAGGTGGTAGTGGTGGTGGTGGTGGTAGAGGTGGTAGAGGTGGT AGTGGTGGTGGTG		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8						chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544876	C C	CCATCACC others(380): Show CCATCACCTCTACCACCACCATCACCACCACCACCACCATCACCACCTCT ACCACCACCACCACCACCACCACCACCACTACCACCTCTACCACCTCTAC CACCACGACCACCACTACCACCTCTACCACCACCATCACCACCACCACCA CCATCACCTCTACCACCACCATCACCACCACCACCACCATCACCACCATC ATCACCACCACCACTACCACCTCTACCACCACCATCACCACCACCACTAT CACCACCTCTACCACCACCATCACCACCACCACCACCATCACCTCTACCA CCACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ATCACCACCTCTACCACCACCATCACCACCACCACTAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0126 a0002c0002t0002g0126	1	121	0.0083	387	c.520 others(408): Show c.5208-19967_5208-19966insATAGTGGTGGTGGTGATGGTGGTG GTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGG TGGTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTA GTGGTGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAG TGGTGGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTG GTGGTGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTAGAGGTGATG		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8						chr1	TogoVar
HIVEP3_chr1_41501365_41923922	41544876	C C	CCATCACC others(380): Show CCATCACCTCTACCACCACCATCACCACCACCACCACCATCACCACCTCT ACCACCACCACCACCACCACCACCACCACTACCACCTCTACCACCTCTAC CACCACGACCACCACTACCACCTCTACCACCACCATCACCACCACCACCA CCATCACCTCTACCACCACCATCACCACCACCACCACCATCACCACCATC ATCACCACCACCACTACCACCTCTACCACCACCATCACCACCACCACTAT CACCACCTCTACTACCACCATCACCACCACCACCACCATCACCTCTACCA CCACCATCACCACCACCACCACCATCACCACCATCACCACCACCACCACC ATCACCACCTCTACCACCACCATCACCACCACCACTAT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01255.hp1 HG00673.hp2 HG01255.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0013 a0002c0002t0008 a0002c0002t0013	a0002c0002t0008g0017 a0002c0002t0013g0115 a0002c0002t0008g0017 a0002c0002t0013g0115	2	122	0.0164	387	c.520 others(408): Show c.5208-19967_5208-19966insATAGTGGTGGTGGTGATGGTGGTG GTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGTGATGGTGGTGGT GGTGGTGATGGTGGTGGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGG TAGTAGAGGTGGTGATAGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTA GTGGTGGTGGTGATGATGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTAGAGGTGATGGTGGTGGTGGTGGTGATGGTGGTGGTAGAGGTGGTAG TGGTGGTCGTGGTGGTAGAGGTGGTAGAGGTGGTAGTGGTGGTGGTGGTG GTGGTGGTGGTGGTAGAGGTGGTGATGGTGGTGGTGGTGGTGATGGTGGT GGTAGAGGTGATG		HIVEP3	ENSG00000127124.16	transcript	ENST00000372583.6	protein_coding	5/8						chr1	TogoVar
HOXD13_chr2_176087721_176100944	176095604	C C	CAAAAAGA others(380): Show CAAAAAGAGGCTGAATCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0003 a0001c0002t0016g0003	1	412	0.0024	387	c.89 others(396): Show c.890_*891insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCAT CCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATT GCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAGGCTGAAT C		HOXD13	ENSG00000128714.6	transcript	ENST00000392539.4	protein_coding	2/2				891	INFO_REALIGN_3_PRIME	chr2	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(380): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGG AAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAA GGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01975.hp2 HG02004.hp2 others(19): Show HG01928.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02083.hp2 HG02132.hp1 HG02293.hp1 NA18945.hp2 NA18953.hp2 NA18954.hp1 NA18964.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18975.hp1 NA18982.hp1 NA18988.hp1 NA19004.hp2 NA19056.hp1 NA19063.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0033 a0001c0001t0002g0063 others(18): Show a0001c0001t0002g0001 a0001c0001t0002g0033 a0001c0001t0002g0063 a0001c0001t0002g0114 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157	22	175	0.1257	387	c.290 others(406): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTC CTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCC CTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCC TCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCC TCCTCCCTTCC		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(380): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAG GGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18984.hp1 NA19088.hp1 HG02155.hp2 NA18984.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0003g0071 a0001c0001t0003g0051 a0001c0001t0003g0055 a0001c0001t0003g0071	3	156	0.0192	387	c.290 others(406): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCC TCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCC TCCTCCCTTCC		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(380): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAG GGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGGAGGGAGGGAGGAAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	154	0.0065	387	c.290 others(406): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCC TCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCC TCCTCCCTTCC		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(380): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGGAGGAAGGGAGG AAGGGAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAG GGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG04199.hp2 HG01975.hp1 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0109 a0001c0001t0012g0122 a0001c0001t0012g0109 a0001c0001t0012g0122	2	155	0.0129	387	c.290 others(406): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTCCCTCCCTCCCTCCC TCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCC TCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCC TCCTCCCTTCC		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar
INO80_chr15_40973880_41121280	41031545	A A	AGGAAGGG others(380): Show AGGAAGGGAGGAGGGAGGAAGGGAGGGAGGGAGGAGGGAGGAAGGGAGGA AGGGAGGAGGGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGGAGGGA GGGAGGGAGGGAGGGAGGAAGGGAGGGAGGGAGGAAGGGAGGAAGGGAGG GAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGA GGAGGGAGGAAGGGAGGAAGGGAGGAGGGAGGAAGGGAGGAAGGGAGGAG GGAGGAAGGGAGGGAGGAAGGGAGAAAGGGAGGAAGGGAGGGAGGAAGGG AGGAAGGGAGGAAGGGAGGAAGGGAGGAAGGGAGGAAG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	154	0.0065	387	c.290 others(406): Show c.2908-3810_2908-3809insCTTCCTCCCTTCCTCCCTTCCTCCCT TCCTCCCTTCCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCC CTCCCTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTTCCTCC CTTCCTCCCTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCCCTTCCTCCC TCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTTCCTCCCTT CCTCCCTTCCTCCCTCCCTTCCTCCCTTTCTCCCTTCCTCCCTCCCTTCC TCCCTCCTCCCTTCCTCCCTTCCTCCCTCCTCCCTCCCTCCCTTCCTCCC TCCTCCCTTCC		INO80	ENSG00000128908.19	transcript	ENST00000648947.1	protein_coding	24/35						chr15	TogoVar
INTS10_chr8_19812416_19857067	19832076	T T	TAAGAATC others(380): Show TAAGAATCTTCCTCACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	stop_gained others(1): Show stop_gained disruptive_inframe_insertion	HIGH	HG01515.hp2 HG01515.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0003 a0002c0013t0003	a0002c0013t0003g0028 a0002c0013t0003g0028	1	417	0.0024	387	c.136 others(396): Show c.1360_1361insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCAC TTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATC CCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAATCTTCCTCACT G	p.Thr others(400): Show p.Thr453_Asp454insGlyArgAlaArgTrpLeuThrProValIlePr oAlaLeuTrpGluAlaGluAlaGlyGlySerArgGlyGlnGluIleGluT hrIleProAlaLysThrValLysProArgLeuTyrTerLysTyrLysLys LeuAlaGlyArgSerGlyGlyArgLeuTerSerGlnLeuLeuGlyArgLe uArgGlnGluAsnGlyValAsnProGlyGlyGlyAlaCysSerGluProA rgSerArgHisCysThrProAlaTrpAlaThrGluArgAspSerValSer LysLysLysLysLysLysLysLysLysLysLysLysLysLysLysLysLy sLysLysLysLysLysLysLysLysLysLysLysLysLysArgIlePheL euThr	INTS10	ENSG00000104613.12	transcript	ENST00000397977.8	protein_coding	11/17	1483/2517	1361/2133	454/710		INFO_REALIGN_3_PRIME	chr8	TogoVar
KCNK2_chr1_215077737_215242090	215209559	T T	TATATATA others(380): Show TATATATAAAATATATATAATATATATTTAAAATATATATAATATATATA TAAAATAGATATTATATATAAAATATATAAAATAGATATATATAAAATAT ATAAAATAGATATTATATATAAAATATATATTATATATATAAAATAGATA TTATATATAAAATAGATATTATATATTATATAAAATATATATTATATATT ATATAATATATAATATATATTATATATTATATATTATATATTAAATATAT ATTATATATATAAAATATATATAAAATATATATTATATAAAATATATATT ATATATAAAATATATATTATATATAAAATATATATTATATATAAAATATA TAATATATATAAAATATATATTATATATAAAATATATA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02622.hp1 HG02895.hp2 HG01891.hp2 HG02622.hp1 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0035 a0001c0002t0002 a0001c0002t0033 a0001c0001t0035 a0001c0002t0002 a0001c0002t0033	a0001c0001t0035g0140 a0001c0002t0002g0170 a0001c0002t0033g0169 a0001c0001t0035g0140 a0001c0002t0002g0170 a0001c0002t0033g0169	3	203	0.0148	387	c.963 others(406): Show c.963+14474_963+14475insAAATATATATAATATATATTTAAAAT ATATATAATATATATATAAAATAGATATTATATATAAAATATATAAAATA GATATATATAAAATATATAAAATAGATATTATATATAAAATATATATTAT ATATATAAAATAGATATTATATATAAAATAGATATTATATATTATATAAA ATATATATTATATATTATATAATATATAATATATATTATATATTATATAT TATATATTAAATATATATTATATATATAAAATATATATAAAATATATATT ATATAAAATATATATTATATATAAAATATATATTATATATAAAATATATA TTATATATAAAATATATAATATATATAAAATATATATTATATATAAAATA TATAATATATA		KCNK2	ENSG00000082482.14	transcript	ENST00000444842.7	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr1	TogoVar
KIAA0930_chr22_45187244_45245894	45229053	A A	ACCACTCA others(380): Show ACCACTCACCCGAAAGATCCCTCTTCACCCCCCAACCACCACCACTCACC CGAAAGATCCCTCTCCACCCCCCAACCACCACCACTCACCCGAAAGATCC CTCTTCACCCCCCAACCACCACCACTCACCCGAAAGATCCCTCTCCACCC CCCAACCACCACCACTCACCCGAAAGATCCCTCTCCACCCCCCAACCACC AAACACTCACCTGAGAGATCCCTCTCCACCCCCGCCATCACCACTCACCC GAAAGATCCCTCTTCACCCCCCAACCACCACTCACCCGAAAGATCCCTCC CCATCCCCCCCCACCACTCACCCGAAAGATCCCTCTCCACCCCCCACACC ACCACTCACCCGAAAGATCCCTCTCCACCCCCGCCACC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0375 a0001c0001t0006g0375	1	384	0.0026	387	c.64+ others(404): Show c.64+11586_64+11587insGGTGGCGGGGGTGGAGAGGGATCTTTCG GGTGAGTGGTGGTGTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGG GGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGGGGTGAAGA GGGATCTTTCGGGTGAGTGGTGATGGCGGGGGTGGAGAGGGATCTCTCAG GTGAGTGTTTGGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGT GGTGGTTGGGGGGTGGAGAGGGATCTTTCGGGTGAGTGGTGGTGGTTGGG GGGTGAAGAGGGATCTTTCGGGTGAGTGGTGGTGGTTGGGGGGTGGAGAG GGATCTTTCGGGTGAGTGGTGGTGGTTGGGGGGTGAAGAGGGATCTTTCG GGTGAGTGG		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9						chr22	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(380): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCACTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC CTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG01175.hp1 HG01358.hp1 others(7): Show HG00673.hp1 HG01175.hp1 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp1 HG02109.hp2 HG03927.hp2 NA18522.hp1 NA19057.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0020 a0001c0001 a0002c0002 a0010c0020	a0001c0001t0006 a0002c0002t0001 a0010c0020t0001 a0001c0001t0006 a0002c0002t0001 a0010c0020t0001	a0001c0001t0006g0103 a0002c0002t0001g0003 a0002c0002t0001g0016 others(1): Show a0001c0001t0006g0103 a0002c0002t0001g0003 a0002c0002t0001g0016 a0010c0020t0001g0105	10	86	0.1163	387	c.-27 others(398): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(380): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCACTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC CTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0016 a0002c0002t0001g0016	1	77	0.0130	387	c.-27 others(398): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2705		chr12	TogoVar
KRT82_chr12_52388931_52411335	52409039	T T	TCCTCTCC others(380): Show TCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTC TCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCT CTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCC TCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCC CTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCACTCCCTCTCCCTCCTCTC CCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCTCCCTCCTCT CCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTCTCCCTCCTCTCCCTC CTCTCCCTCACTCTCCCTCTCCCTCACTCTCCCTCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0110 a0002c0002t0001g0110	1	77	0.0130	387	c.-27 others(398): Show c.-2763_-2762insGGAGAGGGAGAGTGAGGGAGAGGGAGAGTGAGGG AGAGGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAG AGGGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGA GAGGGAGAGGAGGGAGAGGGAGTGGGAGAGGAGGGAGAGGGAGAGGAGGG AGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGG GAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAG GGAGAGGAGGGAGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGA GGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAGAGGAGGGAGAGGGAG AGG		KRT82	ENSG00000161850.3	transcript	ENST00000257974.3	protein_coding					2705		chr12	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(380): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGTGTACAGT GGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCAGTTC TCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAGGCGCCTGCCACCACA CCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTGAC CAGGCTGGTCTGGAGCTCCTGACCTCAGGTAAGTGCTA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18947.hp2 NA18971.hp2 others(2): Show NA18940.hp2 NA18947.hp2 NA18971.hp2 NA19070.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 others(2): Show a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346	5	58	0.0862	387	c.116 others(402): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCC AGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCC GAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAG GCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTGACCAGGCTGGTCTGGAGCTCCTGACCTCAGGTAAGTG CTAGAAT		LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
LIMK2_chr22_31207298_31285080	31226471	G G	GGAATTAC others(380): Show GGAATTACAGGCGTGAACCACTGTGCCCAGCCAAGAGTTGTTTTTAGTGT GGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATGCCTCCCTAGGTTCCT ACTTTTTGTTACTAGCTTTATTATAGCTATATTATTATTATTATTATTAT TATTATTATTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGTGTACAGT GGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCCGAGTTCAAGCAGTTC TCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAGGCGCCTGCCACCACA CCCGGCTAATTTTTGTATTTTTAGTGGAGACGGGGTTTCACCTTGTTGAC CAGGCTGGTCTCGAGCTCCTGACCTCAGGTAAGTGCTA	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01517.hp1 HG02738.hp1 others(1): Show HG01516.hp1 HG01517.hp1 HG02738.hp1 HG02809.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0004c0006 a0004c0013 a0002c0002 a0004c0006 a0004c0013	a0002c0002t0001 a0004c0006t0001 a0004c0013t0001 a0002c0002t0001 a0004c0006t0001 a0004c0013t0001	a0002c0002t0001g0242 a0004c0006t0001g0210 a0004c0006t0001g0211 others(1): Show a0002c0002t0001g0242 a0004c0006t0001g0210 a0004c0006t0001g0211 a0004c0013t0001g0161	4	57	0.0702	387	c.116 others(402): Show c.116+656_116+657insTACAGGCGTGAACCACTGTGCCCAGCCAAG AGTTGTTTTTAGTGTGGTTGGCAGAGCCAGCTCTTCCTCACCACAGGATG CCTCCCTAGGTTCCTACTTTTTGTTACTAGCTTTATTATAGCTATATTAT TATTATTATTATTATTATTATTATTGAGACAGAGTCTCGCTCTGTCGCCC AGGCTGGTGTACAGTGGTGCGATCCCGGCTCACTGCAACCTCTGCCTCCC GAGTTCAAGCAGTTCTCCTGCCTCAGCCCCCCGAGTAGGTGGGACTACAG GCGCCTGCCACCACACCCGGCTAATTTTTGTATTTTTAGTGGAGACGGGG TTTCACCTTGTTGACCAGGCTGGTCTCGAGCTCCTGACCTCAGGTAAGTG CTAGAAT		LIMK2	ENSG00000182541.18	transcript	ENST00000331728.9	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr22	TogoVar
LRPAP1_chr4_3498612_3537422	3509228	T T	TTAAGACG others(380): Show TTAAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGACACCGGA GACTGTTGAGACGCCGACTGGAGTCACACACGGCAGTCAACGCGTGGGAC ACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGGCAGTCAACGC GTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGGCAGTC AACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACACACGG CAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAGTCACA CACGGCAGTCAACGCGTGGACACCGGAGACTGCTGAGACGCCGACTGGAG TCACACACGGCAGTCAACGCGTGGACACCGGAGACTGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0143 a0001c0001t0143	a0001c0001t0143g0086 a0001c0001t0143g0086	1	324	0.0031	387	c.37 others(398): Show c.3745_*3746insGCAGTCTCCGGTGTCCACGCGTTGACTGCCGTGT GTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTGACTGC CGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACGCGTTG ACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGTCCACG CGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTCCGGTGT CCACGCGTTGACTGCCCGTGTGTGACTCCAGTCGGCGTCTCAGCAGTCTC CGGTGTCCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTCTCAAC AGTCTCCGGTGTCCACGCGTTGACTGCCGTGTGTGACTCCAGTCGGCGTC TTA		LRPAP1	ENSG00000163956.13	transcript	ENST00000650182.1	protein_coding	8/8				3745		chr4	TogoVar
LY6E_chr8_143013529_143027409	143014667	G G	GCAGGAGG others(380): Show GCAGGAGGGAGTGCTGTGTGAGGAGGAGGAGGGAGTCCTGTGTGAGGAGG AGGGAGTGCCATGTGAGGAGGAGGGAGTCCTGTGTGAGGAGGAGGGAGTC CCGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAGGAGGGAGTCCTGTG TGAGGAGGAGGGAGTCCCATGTGAGGAGGAGGGAGTCCCGTGTGAGGAGG AGGGAGTCCCGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGAGGAGGGA GTCCTGTGTGAGGAGGAGGGAGTGCCATGTGAGGAGGAGGGAGTCCTGTG TGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGG AGGAGGGAGTCCTGTGTGAGGAGGAGGGAGTCCCATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	373	0.0027	387	c.-39 others(398): Show c.-3977_-3976insCAGGAGGGAGTGCTGTGTGAGGAGGAGGAGGGAG TCCTGTGTGAGGAGGAGGGAGTGCCATGTGAGGAGGAGGGAGTCCTGTGT GAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTGCTGTGTGAGGAGGA GGAGGGAGTCCTGTGTGAGGAGGAGGGAGTCCCATGTGAGGAGGAGGGAG TCCCGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAGTGCTGTGT GAGGAGGAGGAGGGAGTCCTGTGTGAGGAGGAGGGAGTGCCATGTGAGGA GGAGGGAGTCCTGTGTGAGGAGGAGGGAGTCCCGTGTGAGGAGGAGGGAG TGCTGTGTGAGGAGGAGGAGGGAGTCCTGTGTGAGGAGGAGGGAGTCCCA TGT		LY6E	ENSG00000160932.11	transcript	ENST00000292494.11	protein_coding					3861		chr8	TogoVar
LYPD8_chr1_248734415_248760759	248746997	G G	GCCCGCAC others(380): Show GCCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACAGCCAGCAGCA CCCACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCACCCAGGGCATCG CCCGCACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAGCAC CCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCCCCCG CACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCAC CCAGGGCATCGCCCGCACGGCCAGCAGCACCCACCCAGGGCATCGCCCGC ACGGCCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCACCCACCCAG GGCATCGCCCGCACGGCCAGCACCCACCCAGGGCATCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0003 a0004c0004t0003	a0004c0004t0003g0105 a0004c0004t0003g0105	1	361	0.0028	387	c.337 others(404): Show c.337+1291_337+1292insGGATGCCCTGGGTGGGTGCTGGCCGTGC GGGCGATGCCCTGGGTGGGTGCTGGCCGTGCGGGCGATGCCCTGGGTGGG TGCTGGCCGTGCGGGCGATGCCCTGGGTGGGTGCTGCTGGCCGTGCGGGC GATGCCCTGGGTGGGTGCTGCTGGCCGTGCGGGCGATGCCCTGGGTGGGT GCTGGCCGTGCGGGGGATGCCCTGGGTGGGTGCTGGCCGTGCGGGCGATG CCCTGGGTGGGTGCTGCTGGCCGTGCGGGCGATGCCCTGGGTGGGTGCTG GCCGTGCGGGCGATGCCCTGGGTGGGTGCTGCTGGCCGTGCGGGCGATGC CCTGGGTGGGTGCTGCTGGCTGTGCGGGCGATGCCCTGGGTGGGTGCTGG CCGTGCGGG		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
MARCHF1_chr4_163519718_164389019	163894556	C C	CATGCATA others(380): Show CATGCATATATATATATGCATGTGATGCATATATATATATGCATGTGATG CATATATATATATGCATGTGATGCATATATATATGCATGTGATGCATATA TATATATGCATGTGATGCATATATATATATGCATGTGATGCATATATATA TATGCATGTGATGCATATATATATATGCATGTGATGCATATATATATATG CATGTGATGCATATATATATATGCATGTGATGCATATATATATATGCATG TGATGCATATATATATATGCATGTGATGCATATATATATGCATGTGATGC ATATATATATATGCATGTGATGCATATATATATATGCATGTGATGCATAT ATATATATGCATGTGATGCATATATATATATGCATGTG	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0099 a0001c0002t0028g0099	1	66	0.0152	387	c.-38 others(406): Show c.-38-40388_-38-40387insCACATGCATATATATATATGCATCAC ATGCATATATATATATGCATCACATGCATATATATATATGCATCACATGC ATATATATATATGCATCACATGCATATATATATGCATCACATGCATATAT ATATATGCATCACATGCATATATATATATGCATCACATGCATATATATAT ATGCATCACATGCATATATATATATGCATCACATGCATATATATATATGC ATCACATGCATATATATATATGCATCACATGCATATATATATATGCATCA CATGCATATATATATATGCATCACATGCATATATATATGCATCACATGCA TATATATATATGCATCACATGCATATATATATATGCATCACATGCATATA TATATATGCAT		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9						chr4	TogoVar

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