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
LSS_chr21_46183446_46233774	46184620	A A	ACCCAGTG others(638): Show ACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCA CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGA CCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCC TGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTC CAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGCACCCACCACCACCAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGG CCACACCTCCAGCCCTGTGATGGGCACCCACCACCACCAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01168.hp1 HG01261.hp1 others(3): Show HG01099.hp1 HG01168.hp1 HG01261.hp1 HG01891.hp2 HG03225.hp1 NA20752.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0010 a0005c0008t0004g0047 a0005c0008t0004g0049 others(3): Show a0005c0008t0004g0010 a0005c0008t0004g0047 a0005c0008t0004g0049 a0005c0008t0004g0056 a0005c0008t0004g0057 a0005c0008t0004g0059	6	358	0.0168	645	c.64 others(656): Show c.6483_*6484insATGGTGGTGGTGGTGGGTGCCCGTCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGA GTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGG TGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGG TGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTG GGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGC CCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCC GGCCCACTGGG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3825		chr21	TogoVar
LSS_chr21_46183446_46233774	46184620	A A	ACCCAGTG others(638): Show ACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCA CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGA CCACCAACAGCCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCC TGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTC CAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGCACCCACCACCACCAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGG CCACACCTCCAGCCCTGTGATGGGCACCCACCACCACCAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02683.hp2 HG01069.hp1 HG01071.hp1 HG02683.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0004 a0005c0008t0004	a0005c0008t0004g0010 a0005c0008t0004g0011 a0005c0008t0004g0010 a0005c0008t0004g0011	3	358	0.0084	645	c.64 others(656): Show c.6483_*6484insATGGTGGTGGTGGTGGGTGCCCGTCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGA GTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGG TGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGG TGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTG GGCTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGC CCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCC GGCCCACTGGG	LSS	ENSG00000160285.15	transcript	ENST00000397728.8	protein_coding		3825		chr21	TogoVar
MGAT5B_chr17_76863404_76955393	76925235	G G	GCCCTCCC others(638): Show GCCCTCCCCTCCCCTCCCCCCTCCCCTCCCTCCCCCTCCCCTCCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCC TCCCTCCTCCTCCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCTCCC CCCCTCCCCTCCCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCCTCT CCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCCTTC CCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTCCCC TCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTACCCC TCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCCTCC CTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACCTCC CCTTCCCTCCCCCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCCCTT CCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCCCTC CCCTTCCCTCCCCACCTCCCCCTCCCCTCCCTTCCCTCTCCTGTCCCCAC TCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0001 a0001c0029t0001	a0001c0029t0001g0155 a0001c0029t0001g0155	1	278	0.0036	645	c.115 others(662): Show c.1157+156_1157+157insCCTCCCCTCCCTCCCCCTCCCCTCCCCC CTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTC CCCTCCCTCCTCCTCCCCTCCCCCCTCCCCTCCCCCCTCCGCCCTTCCCT CCCCCCCTCCCCTCCCCCCTCACCCCTTCCCCTCCCCTCCACCCTCCCCC TCTCCTCCCCTCCCTTCCCCTCCCCTCCCCTCCCTTCCCCTCCCCTCCCC TTCCCTCCCGCCTCCCCTTCCCCCCTCCCCTCCCCTCCCCCTCCCCCTTC CCCTCCCCCTTCCCCCTCCCCTCCCATTCCATCCCCCTTCCCCTTCCTAC CCCTCCCCTCCCCCCTCCCCTCCCCCCTTCGCCTCCCCTCCCCTCTGCCC TCCCTTCCCCGCCCCTCCCCTCCCTTTCCCTCCCTTCCCCTCCCCTCACC TCCCCTTCCCTCCCCCTCCCTTCTCCTCCCCTCCCCCCTCCTCCCCCTCC CTTCCCCTCTGCTTGCCCCTTCCCTCCCCTCTCCTCTCCCCTCCCCACCC CTCCCCTTCCCTCCCCACCTCCCCCTCCCCTCCCTTCCCTCTCCTGTCCC CACTCCTCCTCTCCCCTCCCCCTCCCCTCCCCACCCCTCCCCTCCCCACC CCTCCCCTCCCCTCCCC	MGAT5B	ENSG00000167889.13	transcript	ENST00000569840.7	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr17	TogoVar
MSR1_chr8_16102881_16197651	16189400	A A	ATATTTAT others(638): Show ATATTTATATATATTTTTATATATATAAAATCATATTTTATATATATTTT ATATATTATATATATAAAATCTTATTTTATATATTATATATATATAAAAT CTTACTTTATATATATTTTATATATATAAAATCTTACTTTATATATATTT TATATATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTA CTTTATATATATTTTATATATATAAAATCTTACTTTATATATATTTTATA TATATAAAATCTTACTTTATATATATTTTATATATATAAAATCTTACTTT ATATATATTTTATATATATAAAATCTTACTTTATATATATTTTATATATA TAAAATCTTACTTTATATATATTTTATATATATAAAATCTTACTTTATAT ATATTTTATATATATAAAATCTTACTTTATATATATTTTATATATATAAA ATCTTATTTTATATATATTTTATATATATAAAATCTTATTTTATATATAT TTTATATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCT TATTTTATATATATTTTATATATATAAAATCTTATTTTATATATATTTTA TATATATAAAATCTTATTTTATATATATTTTATATATATAAAATCT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0008 a0001c0011t0008	a0001c0011t0008g0068 a0001c0011t0008g0068	1	330	0.0030	645	c.-5+ others(660): Show c.-5+3197_-5+3198insAGATTTTATATATATAAAATATATATAAAA TAAGATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATA AAATATATATAAAATAAGATTTTATATATATAAAATATATATAAAATAAG ATTTTATATATATAAAATATATATAAAATAAGATTTTATATATATAAAAT ATATATAAAATAAGATTTTATATATATAAAATATATATAAAGTAAGATTT TATATATATAAAATATATATAAAGTAAGATTTTATATATATAAAATATAT ATAAAGTAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATA TATATAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAA AGTAAGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATA TAAAATATATATAAAGTAAGATTTTATATATATAAAATATATATAAAGTA AGATTTTATATATATAAAATATATATAAAGTAAGATTTTATATATATAAA ATATATATAAAGTAAGATTTTATATATATATAATATATAAAATAAGATTT TATATATATAATATATAAAATATATATAAAATATGATTTTATATATATAA AAATATATATAAATA	MSR1	ENSG00000038945.15	transcript	ENST00000262101.10	protein_coding	1/9			chr8	TogoVar
MUC4_chr3_195741771_195816929	195777645	T T	TCATACCT others(638): Show TCATACCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACAGTCATACCTTCCACACCCATACCTTCCACACCCATACTTTC CACACCCATACCTTCCACACCCATACCTTCCACAGTCATACCTTCCACAC CCATACCTTCCACACCCATACCTTCCACACCCATACCTTCCACACCCATA CCTTCCACACCCATACCTTCCACACCCTTACCTTCCACACCCTTACCTTC CACACCCATACCTTCCACGGCCATACCTTCCACGGTCATACCTTCCGCAC CCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCACCCATA CCTTCCGCACCCATACCTTCCACGGCCATACCTTCCACGGCCATACCTTC CACACCCATACCTTCCACACCCATACCTTCCACACCCTTACCTTCCACAC CCTTACCTTCCACACCCATACCTTCCACGGCCATACCTTCCACAGTCATA CCTTCCACACCCATACCTTCCACACCCATACCTTCCGCACCCATACCTTC CACAGTCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCACAG TCATACCTTCCGCACCCATACCTTCCGCACCCATACCTTCCGCATC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0080 a0080	a0080c0147 a0080c0147	a0080c0147t0004 a0080c0147t0004	a0080c0147t0004g0231 a0080c0147t0004g0231	1	249	0.0040	645	c.129 others(664): Show c.12943+657_12943+658insGATGCGGAAGGTATGGGTGCGGAAGG TATGGGTGCGGAAGGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGG GTGCGGAAGGTATGACTGTGGAAGGTATGGGTGCGGAAGGTATGGGTGTG GAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGGCCGTGGAAGG TATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAAGGGTGTGGAAGGTATGG GTGTGGAAGGTATGGGTGTGGAAGGTATGGCCGTGGAAGGTATGGCCGTG GAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGGGTGCGGAAGG TATGGGTGCGGAAGGTATGGGTGCGGAAGGTATGACCGTGGAAGGTATGG CCGTGGAAGGTATGGGTGTGGAAGGTAAGGGTGTGGAAGGTAAGGGTGTG GAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGG TATGGGTGTGGAAGGTATGGGTGTGGAAGGTATGACTGTGGAAGGTATGG GTGTGGAAGGTATGGGTGTGGAAAGTATGGGTGTGGAAGGTATGGGTGTG GAAGGTATGACTGTGGAAGGTATGGGTGTGGAAGGTATGGGTGTGGAAGG TATGACTGTGGAAGGTATG	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	3/24			chr3	TogoVar
NGEF_chr2_232873701_233018256	232995356	C C	CTGTATAC others(638): Show CTGTATACAGCATGTATACTGTATACAGCATGTATACTGTATACAGCATG TATACTGTATGTATGTATACTGTATGTATGTATACTGTATGTATGTATAC CGTATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCG TATATATACACAGTATGTATACCGTATATATACACAGTATGTATACCGTA TATATACACAGTATGTATACCGTATATATACACAGTATGTATACTGTGTA TATATACACAGTATGTATACTGTGTATATATACACAGTATGTATACTGCA TACAGTATGTATACTGTATACATACTGCATGCAGTATGTATACTGTATAC ATACTGCATGCAGTATGTATACTGTATACATACTGCATGCAGTATGTATA CTGTATATATACACTATACAGTATGTATACTGTATATATACACAATACAG TATGTATACTGTATATATACACAATACAGTATGTATACTGTATATATACA CAATACAGTATGTATACTGTATATATACACAATACAGTATGTATACTGTA TATATACACAATACAGTATGTATACTGTATATATACACACAGTATGTATA CTGTATATATACACACAGTATGTATACTGTATATATACACACAGTA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0016 a0001c0003t0027g0016	1	362	0.0028	645	c.-75 others(664): Show c.-75+17711_-75+17712insTACTGTGTGTATATATACAGTATACA TACTGTGTGTATATATACAGTATACATACTGTGTGTATATATACAGTATA CATACTGTATTGTGTATATATACAGTATACATACTGTATTGTGTATATAT ACAGTATACATACTGTATTGTGTATATATACAGTATACATACTGTATTGT GTATATATACAGTATACATACTGTATTGTGTATATATACAGTATACATAC TGTATAGTGTATATATACAGTATACATACTGCATGCAGTATGTATACAGT ATACATACTGCATGCAGTATGTATACAGTATACATACTGCATGCAGTATG TATACAGTATACATACTGTATGCAGTATACATACTGTGTATATATACACA GTATACATACTGTGTATATATACACAGTATACATACTGTGTATATATACG GTATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGT ATACATACTGTGTATATATACGGTATACATACTGTGTATATATACGGTAT ACATACTGTGTATATATACGGTATACATACATACAGTATACATACATACA GTATACATACATACAGTATACATGCTGTATACAGTATACATGCTGTATAC AGTATACATGCTGTATACA	NGEF	ENSG00000066248.15	transcript	ENST00000264051.8	protein_coding	1/14			chr2	TogoVar
NOTCH1_chr9_136489433_136551048	136528378	A A	ATGGGCAG others(638): Show ATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCA GGGACAGTGCGGGGGGGATGGGCAGGGACGGTGAGGGGGGATGGGCAGGG ACGGTGAGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAG TGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGT GGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGGG ACAGTGGGGGGGTGGGCAGGGACAGTGGGGGATGGGCAGGGACAGTGGGG GGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGG CAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGA CAGTGAGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGA GGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCGAT GGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGG ACAGTGGGGGGTGGGCAGGGACAGTGGGGCGATGGGCAGGGACAGTGGGG GGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0016 a0016	a0016c0078 a0016c0078	a0016c0078t0014 a0016c0078t0014	a0016c0078t0014g0172 a0016c0078t0014g0172	1	324	0.0031	645	c.141 others(662): Show c.141-4400_141-4399insCCCCCCACTGTCCCTGCCCATCCCCCTC ACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCC CCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCAC TGTCCTTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCC TGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCA TCCCCCTCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCC ACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCACTGTCCC TGCCCACCCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCAC CCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACT GTCCCTGCCCATCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGC CCATCCCCCCCTCACCGTCCCTGCCCATCCCCCCTCACCGTCCCTGCCCA TCCCCCCCGCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCC CCCACTGTCCCTGCCCA	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136528378	A A	ATGGGCAG others(638): Show ATGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGGATGGGCA GGGACAGTGCGGGGGGGATGGGCAGGGACGGTGAGGGGGGGATGGGCAGG GACGGTGAGGGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACA GTGGGGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGG TGGGCAGGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGGATGGGCAGG GACAGTGGGGGGTGGGCAGGGACAGTGGGGGATGGGCAGGGACAGTGGGG GGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGG CAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGA CAGTGAGGGGGATGGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGA GGGGGATGGGCAAGGACAGTGGGGGGTGGGCAGGGACAGTGGGGGGCGAT GGGCAGGGACAGTGGGGGGGATGGGCAGGGACAGTGGGGGGTGGGCAGGG ACAGTGGGGGGTGGGCAGGGACAGTGGGGCGATGGGCAGGGACAGTGGGG GGGATGGGCAGGGACAGTGAGGGGGATGGGCAGGGACAGTGGGGGG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0017 a0017	a0017c0044 a0017c0044	a0017c0044t0002 a0017c0044t0002	a0017c0044t0002g0036 a0017c0044t0002g0036	1	324	0.0031	645	c.141 others(662): Show c.141-4400_141-4399insCCCCCCACTGTCCCTGCCCATCCCCCTC ACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCGCCCCACTGTCC CTGCCCACCCCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCC CCCCCACTGTCCCTGCCCATCGCCCCCCACTGTCCCTGCCCACCCCCCAC TGTCCTTGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCC TGCCCATCCCCCTCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCA TCCCCCTCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCCC ACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCATCCCCCACTGTCCC TGCCCACCCCCCACTGTCCCTGCCCATCCCCCCCACTGTCCCTGCCCACC CCCCACTGTCCCTGCCCACCCCCCACTGTCCCTGCCCATCCCCCTCACTG TCCCTGCCCATCCCCCACTGTCCCTGCCCATCCCCCTCACTGTCCCTGCC CATCCCCCCCTCACCGTCCCTGCCCATCCCCCCCTCACCGTCCCTGCCCA TCCCCCCCGCACTGTCCCTGCCCATCCCCCCCCACTGTCCCTGCCCACCC CCCACTGTCCCTGCCCA	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NOTCH1_chr9_136489433_136551048	136534843	C C	CCCAGTCC others(638): Show CCCAGTCCCTCCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCG TCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCCTCCCCA CAGAGCCCCCAAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGC CCCTCAGTCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCC CAGTCCCTCCCCACAGAGCCCCCGAGTCCGTCCCCACAGAGCCCCCCCAG TCCCTCCCCACAGAGCCCCCCAGTCCCTCCCCAGAGCCCCCCAGTCCCTC CCCACAGAGCCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCA CAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCACAGAG CCCGAGTCCGTCCCCACAGAGCCCCCACTCCCTCCCCACAGAGCCCCCAA GTCCGTCCCCACAGGCCCCCAGTCCCTCCCCACAGAGCCCCCCAGTCCCC CCCCACAGAGCCCCCAGTCCCTCCCCACAGAGCCCCCGAGTCCCTCCCCA CAGAGCCCCCGAGTCTGTCCCCACAGGCCCCACTGGACACCAGGCT	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0228 a0001c0001t0003g0228	1	324	0.0031	645	c.140 others(662): Show c.140+9180_140+9181insAGCCTGGTGTCCAGTGGGGCCTGTGGGG ACAGACTCGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGCTCTGTGGGGGGGGACTGGGGGGCTCTGTGGGGAGGGACTGG GGGCCTGTGGGGACGGACTTGGGGGCTCTGTGGGGAGGGAGTGGGGGCTC TGTGGGGACGGACTCGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGG GAGGGACTGGGGGCTCTGTGGGGAGGGACTCGGGGGCTCTGTGGGGAGGG ACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGGCTCTGTGGGGACGGACTCGGGGG CTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCT GTGGGGAGGGACTGAGGGGCTCTGGGGAGGGACTGGGGGGCTCTGTGGGG AGGGACTTGGGGGCTCTGTGGGGAGGGACTGGGGGGCTCTGGGGAGGGAC TGGGGGGCTCTGTGGGGACGGACTCGGGGGCTCTGTGGGGAGGGACTGGG GGGCTCTGTGGGGAGGGACTGGGGGGCTCTGTGGGGAGGGACTGGGGGCT CTGTGGGGAGGGACTGG	NOTCH1	ENSG00000148400.13	transcript	ENST00000651671.1	protein_coding	2/33			chr9	TogoVar
NXN_chr17_794310_984776	952763	A A	AGTCAGAC others(638): Show AGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACAC TGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTAC CACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACCAAGGTTGG AACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGA CAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGGCTGGAGTCAGACAGACCAAGGTTGGAACCTGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGACC AAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGGCT GGAGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCAC ACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCGGCAGGT ACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGAGAGACCAAGGTT GGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0088 a0001c0001t0002g0088	1	242	0.0041	645	c.360 others(664): Show c.360+26555_360+26556insCCCAGCCCCCCCACAGTGTGACCGTC CGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCCCC ACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTG ACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCA ACCTTGGTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGT ACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTG TGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCA GCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCAGGTTCCAACCTTG GTCTGTCTGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCC CCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTC TGACTCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTC CAACCTTGGTCTGTCTGAC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
PASK_chr2_241101099_241154472	241115930	C C	CGGTCCCC others(638): Show CGGTCCCCAAGCATCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCC CATTACGCCAGGGACATCCGGTCCTCAAGCATCCCATTACACCAGGGGCC ACCGGTCCTCAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGCAT CCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGGGG CCACCGGTCCCCAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGC ATCCCATTACACCAGGGGCCACCGGTCCCCAAGCATCCCATTACACCAGG GGCCACCCGGTCCCCAAGCATCCCATTACACCAGGGGCCACCCGGTCCCC AAGCATCCCATTACACCAGGGGCCACCGGTCCTCAAGCATCCCATTACAC CAGGGCCACCCGGTCCTCAAGCATCCCATTACACCAGGGCCACCCGGTCC TCAAGCATCCCATTACACCAGGGCCACCCGGTCCCCAAGCATCCCATTAC ACCAGGGACACCCGGTCCTCAAGCATCCCATTACACCAGGGACACCCAGT CCCCAAGCATCCCATTACACCAGGGACACCCGGTCCCCAAGCATCCCATT ACACCAGGGGCCACCGGTCCTCAAGCATCCCATTACACCAGGGACA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02922.hp1 HG03516.hp2 others(1): Show HG02040.hp1 HG02922.hp1 HG03516.hp2 HG06807.hp1	a0001 a0001	a0001c0012 a0001c0023 a0001c0012 a0001c0023	a0001c0012t0001 a0001c0023t0001 a0001c0012t0001 a0001c0023t0001	a0001c0012t0001g0118 a0001c0012t0001g0156 a0001c0012t0001g0157 others(1): Show a0001c0012t0001g0118 a0001c0012t0001g0156 a0001c0012t0001g0157 a0001c0023t0001g0185	4	376	0.0106	645	c.307 others(662): Show c.3073-518_3073-517insTGTCCCTGGTGTAATGGGATGCTTGAGG ACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGTCCCTGGT GTAATGGGATGCTTGGGGACTGGGTGTCCCTGGTGTAATGGGATGCTTGA GGACCGGGTGTCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCTG GTGTAATGGGATGCTTGAGGACCGGGTGGCCCTGGTGTAATGGGATGCTT GAGGACCGGGTGGCCCTGGTGTAATGGGATGCTTGAGGACCGGTGGCCCC TGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCCTGGTGTAATGGGATG CTTGGGGACCGGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGTGG CCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCTGGTGTAATGGG ATGCTTGGGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGGGGACCGGT GGCCCCTGGTGTAATGGGATGCTTGGGGACCGGGTGGCCCTGGTGTAATG GGATGCTTGAGGACCGGTGGCCCCTGGTGTAATGGGATGCTTGAGGACCG GATGTCCCTGGCGTAATGGGATGCTTGGGGACCGGTGGCCCCTGGTGTAA TGGGATGCTTGGGGACC	PASK	ENSG00000115687.14	transcript	ENST00000234040.9	protein_coding	12/17			chr2	TogoVar
PDE1C_chr7_31746179_32075407	31886816	T T	TTTCGGAT others(638): Show TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTACTCAGAATAGATCT TTTCGGATCTACTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT TTTCGGATCTTTTCAGAATAGATCTTTTCGGATCTTTTCAGAATAGATCT ATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTATTCA GAATAGATCTATTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCA GAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATA GATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCAGAATAGATCT TTTCAGAATAGATCTATTCAGAATAGATCTTTTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTATTCG GATCTATTCAGAATAGATCTATTCGGATCTATTCAGAATAGATCTA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0236 a0001c0001t0003g0236	1	262	0.0038	645	c.129 others(662): Show c.129-5957_129-5956insTAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAATAGATCCGAATAG ATCTATTCTGAATAGATCCGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTG AATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTATTCTGAAAAG ATCTATTCTGAATAGATCTATTCTGAAAAGATCTATTCTGAATAGATCTA TTCTGAATAGATCTATTCTGAATAGATCTATTCTGAATAGATCTATTCTG AAAAGATCTATTCTGAATAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAAAAGATCCGAAAAGATCTATTCTGAAAAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAAAAGATCTATTCTGAGTAGATCCGAAAAGATCTA TTCTGAGTAGATCCGAA	PDE1C	ENSG00000154678.18	transcript	ENST00000396191.6	protein_coding	2/17			chr7	TogoVar
PNPLA7_chr9_137454952_137555402	137502729	G G	GCGGGGGA others(638): Show GCGGGGGACGGGGGGGCGGGGGGGACGCGGGGGACGCGGGGGGACGCGGG GGGCGGGGGGGGACGGGGGGACGGGGGGGACGCGGGGGGCGGGGGCGGAC GGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGGCGGGGGG GGACGGGGGGACGGGGGGGACGCGGGGGGCGGGGCCTATACATAGTGATG TTGGGACGCGGGGGACGGGGGGGACGGGGGGACGGGGGGGGACGCGGGGG GCGGGGGGGACGGGGGGACGGGGGGGACGCGGGGGGGCGGGGGCGGACGG GGGGACGGGGGGGGACGCGGGGGACGGGGGGGACGGGGGGACGGGGGGGG ACGCGGGGGCGGGGCGGACGGGGGGACGGGGGGGACGCGGGGGACGGGGG GGACGCGGGGGCGGGGGGACGGGGGGACGGGGGGGACGCGGGGGGCGGGG CGGACGGGGGGACGGGGGGGACGCGGGGGACGGGGGGGACGCGGGGGACG GGGGGGACGGGGGGGACGGGGGGACGGGGGGGACGCGGGGGACGCGGGGG ACGGGGGGGACGGGGGGGACGGGGGGGACGCGGGGGGACGGGGGGGACGG GGGGGGACGCGGGGGACGGGGGGGACGGGGGGGACGGGGGGGGACC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0073 a0002c0003t0001g0073	1	188	0.0053	645	c.147 others(664): Show c.1474-1003_1474-1002insGGTCCCCCCCCGTCCCCCCCGTCCCC CCCGTCCCCCGCGTCCCCCCCCGTCCCCCCCGTCCCCCCGCGTCCCCCCC GTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCGCGTCCCCCCCGTCCC CCCGTCCCCCCCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCCGCGT CCCCCCCGTCCCCCCGTCCGCCCCGCCCCCCGCGTCCCCCCCGTCCCCCC GTCCCCCCGCCCCCGCGTCCCCCCCGTCCCCCGCGTCCCCCCCGTCCCCC CGTCCGCCCCGCCCCCGCGTCCCCCCCCGTCCCCCCGTCCCCCCCGTCCC CCGCGTCCCCCCCCGTCCCCCCGTCCGCCCCCGCCCCCCCGCGTCCCCCC CGTCCCCCCGTCCCCCCCGCCCCCCGCGTCCCCCCCCGTCCCCCCGTCCC CCCCGTCCCCCGCGTCCCAACATCACTATGTATAGGCCCCGCCCCCCGCG TCCCCCCCGTCCCCCCGTCCCCCCCCGCCCCCCGCGTCCCCCCCGTCCCC CGCGTCCCCCCCGTCCCCCCGTCCGCCCCCGCCCCCCGCGTCCCCCCCGT CCCCCCGTCCCCCCCCGCCCCCCGCGTCCCCCCGCGTCCCCCGCGTCCCC CCCGCCCCCCCGTCCCCCG	PNPLA7	ENSG00000130653.16	transcript	ENST00000406427.6	protein_coding	14/34			chr9	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(638): Show GTCTCTCCCCTCCTCTCTCCCCCTCTCCCTCCCTCTCCCCCTCCCTCTCT CCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCC CTCTCTCCCCCCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTC CCTCTCCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTC CCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTC CCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCC CTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTT TCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTT CCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCT TTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCC CGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCT CTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0038 a0001c0002t0038	a0001c0002t0038g0077 a0001c0002t0038g0077	1	210	0.0048	645	c.439 others(664): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCCTCTCCCTCC CTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCC CTCCCTCTCTCCCCCTCCCTCTCTCCCCCCCCTCTCTCCCCCTCCCTCTC TCCCCCACCTCCCCCCTCCCTCTCCCCCCTCCTTCTCTCTTCCCCTCCTT CTCTCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTC TCTCCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATC CCCTTCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCC CCTCCCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGC TCCTTCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCT CTCTCATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCT CTCCTCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCC CTCTCTCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCC CTCTCTCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2106627	C C	CTTCAGCA others(638): Show CTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGC CAGGTGACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACGTGTG TCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTC CACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCTGGTGGGC GAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTC CGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGC AGGCCCCTCTGGTGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAA CTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGG CCAGGTGACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACACGT GTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCT CCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCCGGTGGG CGAGGACCTCCATGCGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCT CCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCCAGGTGACTCT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	286	0.0035	645	c.335 others(664): Show c.335-28634_335-28633insTCAGCAGGCCCCTCTGGTGGGCGAGG ACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCTGG TGGGCGAGGACCTCCACGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGC CCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTCT TCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCA GGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCACACGTGTCA CCAGGCCAGGTGACTCTTCAGCAGGCCCCTCTGGTGGGCGAGGACCTCCA CGTGTGTCACCAGGCCAGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAG GACCTCCACACGTGTCACCAGGCCAGGTGACTCTTCAGCAGGCCCCTCTG GTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTAACTCTCAGCAAG CCCCTCCGGTGGGCGAGGACCTCCACACGTGTCACCAGGCCAGGTGACTC TTCAGCAGGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTCACCAGGCC AGGTAACTCTCAGCAAGCCCCTCCGGTGGGCGAGGACCTCCATGCGTGTC ACCAGGCCAGGTGACTCTT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRKCZ_chr1_2045411_2190395	2124246	G G	GGTAGTTA others(638): Show GGTAGTTAGGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCA TGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGG ATCATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGT TGGGGTCATGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGG TAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATG GTGGTAGTTAGGGTCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGT CGTGGTGGTTAGGGTCATGGTGGTAGTTAGGATCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAG CGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATC ATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAG GGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0233	1	286	0.0035	645	c.335 others(664): Show c.335-11014_335-11013insAGTTAGGATCACGGCTGTAGTTAGGG TCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGTT AGGGTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGT AGTTAGGGTCACGGCTATAGTTGGGGTCATGGTGGTAGTTAGGGTCACAG CGATAGTTAGCATCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATC ATGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTGTAGTTAG GGTCATGGTGGTAGTTAGGGTCGTGGTGGTTAGGGTCATGGTGGTAGTTA GGATCACGGCTGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGCTGTA GTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGATCATGGC TGTAGTTAGGGTCATGGTGGTAGTTAGGGTCACGGCTATAGTTGGGGTCA TGGTGGTAGTTAGGGTCACAGCGATAGTTAGCATCATGGTGGTAGTTAGG GTCATGGTGGTAGTTAGGATCATGGCTGTAGTTAGGGTCATGGTGGTAGT TAGGGTCATGGTGGTAGTTAGGGTCATGGTGGTAGTTAGGGTCATGGTGG TAGTTAGGGTCATGGCTGT	PRKCZ	ENSG00000067606.17	transcript	ENST00000378567.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SEL1L2_chr20_13844247_13995614	13934343	C C	CATATATA others(638): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATATTCCATATATATATAT ATTCCATATATATATATATTCCATATATATATATATTCCATATATATATA TATTCCATATATATATATATTCCATATATATATATATATTCCATATATAT ATATATTCCATATATATATATATATTCCATATATATATATATTCCATATA TATATATATATTCCATATATATATATTCCATATATATATATATTCCATAT ATATATATTCCATATATATATATATTCCATATATATATATTCCATATATA TATATATTCCATATATATATATTCCATATATATATATATTCCATATATAT ATATATTCCATATATATATATTCCATATATATATATATTCCATATATATA TATATTCCATATATATATATATTCCATATATATATATTCCATATATATAT ATTCCATATATATATATTCCATATATATATATTCCATATATATATATTCC ATATATATATATTCCATATATATATATATTCCATATATATATATTCCATA TATATATATATTCCATATATATATATATTCCATATATATATATTCC	intron_variant intron_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	324	0.0031	645	c.115 others(662): Show c.115-2573_115-2572insGGAATATATATATATGGAATATATATAT ATATGGAATATATATATATATGGAATATATATATATGGAATATATATATA TATGGAATATATATATATGGAATATATATATATGGAATATATATATATGG AATATATATATATGGAATATATATATATGGAATATATATATATGGAATAT ATATATATATGGAATATATATATATATGGAATATATATATATATGGAATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATGGAATATATA TATATATGGAATATATATATATGGAATATATATATATATGGAATATATAT ATATGGAATATATATATATATATGGAATATATATATATATGGAATATATA TATATATATGGAATATATATATATATGGAATATATATATATATATGGAAT ATATATATATATGGAATATATATATATATGGAATATATATATATATGGAA TATATATATATATGGAATATATATATATATGGAATATATATATATATATG GAATATATATATATATGGAATATATATATATATGGAATATATATATATAT GGAATATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(638): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCA TCCCCTCCCCTCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0090 a0001c0001t0021g0090	1	150	0.0067	645	c.77- others(662): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCC CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCATCCCCTCCCCTCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCC TCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTC CCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCC TTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77484808	G G	GTGATTGT others(638): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTG GTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGT GGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTG GTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	150	0.0067	645	c.913 others(662): Show c.913+2475_913+2476insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTG ATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(638): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCC TCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCCCCCTCC CCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCC TCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCA TCCCCTCCCCTCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCACCCCT TCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCC CTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCT CCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0049 a0001c0001t0020g0049	1	158	0.0063	645	c.22+ others(662): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCA CCCCTTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTTCC CCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCTCCCC TCCCCATCCCCTCCCCTCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCC ACCCCTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCC TCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTC CCCCCTCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCC TTCCCCTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484808	G G	GTGATTGT others(638): Show GTGATTGTGATGGTTGTGATTGTGATGGTGGTGGTGGTGATGATGATGGT GGTGATTGTGATGGTGGTGATGGGAGTGATGCTGGTGATTGTGGTGGTGA AGGGGGTGATGCTGGTGATTGTGGTGAAGGGGGTGATGGTGGTGATTGTG ATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATG GTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGT GGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGG GGGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTG GTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGT GGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGG GGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTG GTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	158	0.0063	645	c.859 others(662): Show c.859+2475_859+2476insATTGTGATGGTTGTGATTGTGATGGTGG TGGTGGTGATGATGATGGTGGTGATTGTGATGGTGGTGATGGGAGTGATG CTGGTGATTGTGGTGGTGAAGGGGGTGATGCTGGTGATTGTGGTGAAGGG GGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTGATTGTGATGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTG GCGATTGTGGTGGTGAAGGGGGTGATGGTGATTGTGATGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATGGTGGTGATTGTGATGGTGAAGGGGGTGATGGTG ATTGTGATGGTGGTGAAGGGGGTGATGGTGGCGATTGTGGTGGTGAAGGG GGTGATGGTGGCGATTGTGGTGGTGAAGGGGGTGATGGTGGCGATTGTGG TGGTGAAGGGGGTGATG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SKI_chr1_2223319_2315213	2281126	T T	TGCCCGAG others(638): Show TGCCCGAGAGGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGA GAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACA GGTGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTG GCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGA TCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAG AGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGG ACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGACGCCTG AGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGAC AGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGTGGT GGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAG ATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCA GAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAG GACGCCTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGAC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0236 a0001c0001t0015g0236	1	330	0.0030	645	c.970 others(664): Show c.970-21844_970-21843insGGACAGGCGGTGGCGGAGATCTTCAG AGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGG ACGCCTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGATGCCCG AGAAGACAGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGAC AGGCGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAAGACAGGCGGT GGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGACAGGCGGTGGTGGAG ATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGGTGGCGGAGATCTTCA GAGAGAGGACGCCTGAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAG GATGCCCGAGAGGACAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCT GAGAAGACAGGTGGTGGCGGAGATCTTCAGAGAGAGGATGCCCGAGAGGA CAGGCGGTGGTGGAGATCTTCAGAGAGAGGACGCCTGAGAAGACAGGCGG TGGCGGAGATCTTCAGAGAGAGGACGCCCGAGAAGACAGGCGGTGGCGGA GATCTTCAGAGAGAGGACGCCTGAGAAGACAGGTGGTGGCGGAGATCTTC AGAGAGAGGACGCCCGAGA	SKI	ENSG00000157933.11	transcript	ENST00000378536.5	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
SLC25A41_chr19_6421037_6438763	6429376	G G	GGAAGGGA others(638): Show GGAAGGGAGGTGGAGGGAGAAAAGAGAGGAGGAGGAGGAAGGAAAGAAGG AGAAGGAAGAAGTGAAGGGGGGAGAAGGGAGAGGAGGGAGAATAGAGGAG GAGAAAGAGGAGAGGAGGAGGAGGGAGAAAAGATGAGGGGAGGGGGAGGG AGAAAGGAGGAGGGGAGGAGGAGGAAAAGGTGAAAGGGAGGAGGGAGAGG AGGGACAAAAGAGGAGAAGAGGAGGAGGGAGAAAGGGGAGGAGGAGGAAG TGAAGGGGAGGAGGGAGAAGTGGGAGAAAAGAAGAGAAAGGAGGAGGGAA GGAGGAGGAGGGAGAAAGGAAGGGAGGAGGAGGGAGAAAGGAGGGGAGGA GGAGGGAGAAAGGAGGGGAGGAGGAGAGAAGAGGGGAGGAGGAGAGAAGA GGGGAGGAGGAGAGAGGAGGAGGGGAGGAGGAGAGAGGAGGAGGGGAGGA GGAGAGAAGAGGAGGGGAGGAGGAGGAGAGGAAGGAGGGGAGGAGGAGAG AAGAGGGGAGGAGGAGAGGAAGGAAGAGAGGAGGAGGAGGAGAGGAAGGA GGAGGGGAGGAGGAGGCAGAAAGGAGGAAGGAGGGGGAGGAGGAGAGGAA AGAGTCCGGGAGGAGGAGGGAGAAAGGAGGAGGGGAGGAGGAGGGA	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0014 a0014	a0014c0008 a0014c0008	a0014c0008t0001 a0014c0008t0001	a0014c0008t0001g0035 a0014c0008t0001g0035	1	350	0.0029	645	c.624 others(660): Show c.624+347_624+348insTCCCTCCTCCTCCCCTCCTCCTTTCTCCCT CCTCCTCCCGGACTCTTTCCTCTCCTCCTCCCCCTCCTTCCTCCTTTCTG CCTCCTCCTCCCCTCCTCCTTCCTCTCCTCCTCCTCCTCTCTTCCTTCCT CTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCCTTCCTCTCCTCCTCCTC CCCTCCTCTTCTCTCCTCCTCCCCTCCTCCTCTCTCCTCCTCCCCTCCTC CTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCCCCTCTTCTCTCCTCCTCC CCTCCTTTCTCCCTCCTCCTCCCCTCCTTTCTCCCTCCTCCTCCCTTCCT TTCTCCCTCCTCCTCCTTCCCTCCTCCTTTCTCTTCTTTTCTCCCACTTC TCCCTCCTCCCCTTCACTTCCTCCTCCTCCCCTTTCTCCCTCCTCCTCTT CTCCTCTTTTGTCCCTCCTCTCCCTCCTCCCTTTCACCTTTTCCTCCTCC TCCCCTCCTCCTTTCTCCCTCCCCCTCCCCTCATCTTTTCTCCCTCCTCC TCCTCTCCTCTTTCTCCTCCTCTATTCTCCCTCCTCTCCCTTCTCCCCCC TTCACTTCTTCCTTCTCCTTCTTTCCTTCCTCCTCCTCCTCTCTTTTCTC CCTCCACCTCCCTTC	SLC25A41	ENSG00000181240.14	transcript	ENST00000321510.7	protein_coding	4/6			chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(638): Show GGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAGGGTGGGGA GGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGGGCAG AGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAGGGAG AGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGGGGAC GGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAGGGGGA GGGGGAGGGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGG GGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGG AAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGAGGAGGGA GGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGA GGGGAGGGGAAGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGG GAGGAGGGGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGG GGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	645	c.12 others(656): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCCCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCC CTCCCCTCCCCCTCCCTCCTCCCCTTCCCCTCCCCTCCCCCTCCCTCCTC CCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTC CCCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCC CCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCCTCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCC TCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCC CTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCC CTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGC CCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCC TCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(638): Show GGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAGGGTGGGGA GGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGGGCAG AGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAGGGAG AGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGGGGAC GGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAGTGGGA GGGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGG GGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGG AAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGAGGAGGGA GGGGGAGGGGAGGGGAAGGGGGGAAGGGGAACGGGGAGGAGGGAGGGGGA GGGGAGGGGAAGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGG GAGGAGGGGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGG GGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	645	c.12 others(656): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCCCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCGTTCCCCTTCCCCCCTTCCC CTCCCCTCCCCCTCCCTCCTCCCCTTCCCCTCCCCTCCCCCTCCCTCCTC CCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTC CCCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCC CCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CTCCCCTCCCCCTCCCACTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCC TCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCC CTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCC CTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGC CCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCC TCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(638): Show GGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAGGGTGGGGA GGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGGGCAG AGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAGGGAG AGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGGGGAC GGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAGTGGGA GGGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGG GGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGG AAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGAGGAGGGA GGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGA GGGGAGGGGAAGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGG GAGGAGGGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGGG GGAGGGGGAGAGGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	645	c.12 others(656): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC CTCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTC CCCCCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCC CTCCCCTCCCCCTCCCTCCTCCCCTTCCCCTCCCCTCCCCCTCCCTCCTC CCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTC CCCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCC CCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CTCCCCTCCCCCTCCCACTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCC TCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCC CTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCC CTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGC CCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCC TCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(638): Show GGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAGGGTGGGGA GGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGGGCAG AGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAGGGAG AGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGGGGAC GGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGAGTGGGA GGGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGG GGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAGG GGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGGG AAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGAGGAGGGA GGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGGA GGGGAGGGGAAGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGG GAGGAGGGGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGG GGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18990.hp1 NA19009.hp1 NA18990.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	352	0.0057	645	c.12 others(656): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCCCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCC CTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCC CTCCCCTCCCCCTCCCTCCTCCCCTTCCCCTCCCCTCCCCCTCCCTCCTC CCCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTC CCCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCC CCTCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTC CTCCCCTCCCCCTCCCACTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCC TCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCC CTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCC CTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGC CCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCC TCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784590	G G	GGGAGGGA others(638): Show GGGAGGGAGGGAGGGAGGAAGGAAGGGGAAGGGAGGGGGGAGGGTGGGGA GGGGAGGGCAGGGCAGGGAGGGGAGAGGGGGAGGAGGGAGGTGAGGGCAG AGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAGGAGGGGAAGGGAG AGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAGGGGGAAGGGGGAC GGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAGGGGGGAGTGGG AGGGGGAGGGGAGGAGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGAGGAGGGAGGGGGAGGGGATGGGGAAGGGGGAGGAGGGAGGGGAGAG GGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGG GAAGGGGAAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAGGGGAGGAGGG AGGGGGAGGGGAGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGAGGGGG AGGGGAGGGGAAGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGG GGAGGAGGGGGGGGAAGGGGGAAGGGGGAGGAGGGAGGGGAGAGGGGAGG GGGAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGGTGGCGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	352	0.0028	645	c.12 others(656): Show c.1221_*1222insTCCCGCCACCCCTCCCCCTCCCCCTCCTCTCCCC TCTCCCCCTCCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCCTTCC CCCCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCC TTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTTCCCCTTCCCCCCTTCCCC TCCCCTCCCCCTCCCTCCTCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCC CCCTTCCCCTTCCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCC CCCTCCCCTCCCCTCTCCCCTCCCTCCTCCCCCTTCCCCATCCCCTCCCC CTCCCTCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTCC TCCCCTCCCCCTCCCACTCCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCC TCCCCTCTCCCCGTCCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCC CTCCTCTCCCCTCTCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCC CTCTCCCCTCCTCTGCCCTCACCTCCCTCCTCCCCCTCTCCCCTCCCTGC CCTGCCCTCCCCTCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCC TCCCTCCCTCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1137		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50784593	A A	AGGGAGGG others(638): Show AGGGAGGGAGGGAGGGAGGGAGGGAGGAGGAAGGAAGGGGAAGGGAGGGG GGAGGGTGGGGAGGGGAGGGCAGGGCAGGGAGGGGAAGAGGGGGAGGAGG GAGGTGAGGGCAGAGGAGGGGAGAGGGGGAGGAGGGAGGGGAGGGCAGAG GAGGGGAAGGGAGAGGGGAGAGGAGGGGTGAGGAGGAGAGGAGAGGGGAG GGGGAAGGGGACGGGAGAGGGGAGGGGAGGGCAGAGGAGGGGAAGGGGAG GGGGAGGGGGAGGGGGAGGAGGGAGGGGGGAGGGGAGGGGGAGGGGAGGA GGGAGGGGGAGGGGATGGGGAAGGGGGAGAGGGAGGGGAGAGGGGAGGGG AGGAGGGAGGGGAGGGGGAGGGGGAGGAGGGAGGGGGAGGGGAGGGGAAG GGGGAAGGGGAAGGGGGAGGAGGGGGGAGGAGGGAGGGGGAGGGGAGGGG AGGGGAAGGGGGGAAGGGGAAGGGGGAGGAGGGGAGGGGGAGGGGAGGGA AGGGGGAGGAGGGAGGGGAGAGGGGAGGGGAGGAGGGAGGGGAGGAGGGA GGGGGAGGGGGGAAGGGGGAAGGGGAGGAGGGAGGGGAGAGGGGAGGGGG GAGGGGGAGAGGGGAGAGGAGGGGGAGGGGGAGGGTGGCGGGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	352	0.0028	645	c.12 others(656): Show c.1218_*1219insCTCTCCCGCCACCCTCCCCCTCCCCCTCCTCTCC CCTCTCCCCCTCCCCCCTCCCCTCTCCCCTCCCTCCTCCCCTTCCCCCTT CCCCCCTCCCCCTCCCTCCTCCCCTCCCTCCTCCCCTCCCCTCTCCCCTC CCTCCTCCCCCTTCCCTCCCCTCCCCCTCCCCTCCTCCCCCTTCCCCTTC CCCCCTTCCCCTCCCCTCCCCTCCCCCTCCCTCCTCCCCCCTCCTCCCCC TTCCCCTTCCCCCTTCCCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCCCT CCCCTCCCTCCTCCCCTCCCCTCTCCCCTCCCTCTCCCCCTTCCCCATCC CCTCCCCCTCCCTCCTCCCCTCCCCCTCCCCTCCCCCCTCCCTCCTCCCC CTCCCCCTCCCCCTCCCCTTCCCCTCCTCTGCCCTCCCCTCCCCTCTCCC GTCCCCTTCCCCCTCCCCTCTCCTCTCCTCCTCACCCCTCCTCTCCCCTC TCCCTTCCCCTCCTCTGCCCTCCCCTCCCTCCTCCCCCTCTCCCCTCCTC TGCCCTCACCTCCCTCCTCCCCCTCTTCCCCTCCCTGCCCTGCCCTCCCC TCCCCACCCTCCCCCCTCCCTTCCCCTTCCTTCCTCCTCCCTCCCTCCCT CCCTCCCTCCC	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		1134		chr19	TogoVar
SNTG2_chr2_945849_1372613	1221694	T T	TCTCTAGC others(638): Show TCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTC TCTCTGTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCCGTCTCTCTCTG TCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTC TGCCTATCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTG CCTCTGTCTCTCTCTTTGTCCCTCTCTGTCTCTGTCTCTCTCTGTCTCTG TCTCTAGCTCTGCCTCTGTTAGTCCCTCTCTGTCTCTCCCTGTCTCTGTC TCTCTGTCGCTGTCTCTGCCTCTGTCTCTGTCTCTCTCCGTCTCTCTCTG TCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTC TGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTC TCTCTCTGTCTCTGTCTGTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTC TGCCTATCTTTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTC TCTGTCTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTGTGTCTCTCTCTG TCTCTGCCTATCTCTGTCTCTGTTTCTGTCTCTGTCTCTATCTCTG	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0001 a0011c0020t0001	a0011c0020t0001g0143 a0011c0020t0001g0143	1	190	0.0053	645	c.719 others(664): Show c.719+12464_719+12465insCTCTAGCTCTGCCTCTGTTAGTCCCT CTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCT CTGTCTCTCTCCGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGT CTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTCTCTCTCT GTCTCTGTCTCTCTCTGTCTCTGCCTCTGTCTCTCTCTTTGTCCCTCTCT GTCTCTGTCTCTCTCTGTCTCTGTCTCTAGCTCTGCCTCTGTTAGTCCCT CTCTGTCTCTCCCTGTCTCTGTCTCTCTGTCGCTGTCTCTGCCTCTGTCT CTGTCTCTCTCCGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGT CTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCT GTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTGTGTCTCTCT CTGTCTCTGTCTCTCTCTGTCTCTGCCTATCTTTGTCTCTCTCTGTCTCT CTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTGTCTCTGCCTCTCTCT GTCTCTGTCTGTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCT GTCTCTGTCTCTATCTCTG	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SPATC1L_chr21_46156160_46189459	46184620	A A	ACCCAGTG others(638): Show ACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCA CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGA CCACCAACAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCC TGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTC CAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGCACCCACCACCACCAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGG CCACACCTCCAGCCCTGTGATGGGCACCCACCACCACCAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCACCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp2 HG01261.hp2 HG01891.hp2 others(1): Show HG01099.hp2 HG01261.hp2 HG01891.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0196 a0001c0001t0008g0197 a0001c0001t0008g0198 others(1): Show a0001c0001t0008g0196 a0001c0001t0008g0197 a0001c0001t0008g0198 a0001c0001t0008g0202	4	251	0.0159	645	c.-12 others(656): Show c.-1224_-1223insATGGTGGTGGTGGTGGGTGCCCGTCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGA GTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGG TGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGG TGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTG GGTTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGC CCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCC GGCCCACTGGG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		162		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46184620	A A	ACCCAGTG others(638): Show ACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCA CCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGATGGGTACTCAGGA CCACCAACAGCCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGGCAC CCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGACGGG CACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGTGAC GGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCCTGT GACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACACCTCCAGCCC TGTGATGGGTACTCAGGACCACCAACAACCCAGTGGGCCGGCCACACCTC CAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGGCCACAC CTCCAGCCCTGTGATGGGCACCCACCACCACCAACCCAGTGGGCCGGCCA CACCTCCAGCCCTGTGACGGGCACCCACCACCACCAACCCAGTGGGCCGG CCACACCTCCAGCCCTGTGATGGGCACCCACCACCACCAACCCAGTGGGC CGGCCACACCTCCAGCCCTGTGACGGGCACCCACCACCACCACCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG02683.hp2 HG01069.hp1 HG01071.hp1 HG02683.hp2	a0001 a0011 a0001 a0011	a0001c0001 a0011c0015 a0001c0001 a0011c0015	a0001c0001t0008 a0011c0015t0008 a0001c0001t0008 a0011c0015t0008	a0001c0001t0008g0199 a0001c0001t0008g0201 a0011c0015t0008g0200 a0001c0001t0008g0199 a0001c0001t0008g0201 a0011c0015t0008g0200	3	251	0.0120	645	c.-12 others(656): Show c.-1224_-1223insATGGTGGTGGTGGTGGGTGCCCGTCACAGGGCTG GAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATCACAGGG CTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCGTCACA GGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCCATC ACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGGTGGGTGCCC GTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGTTGGTGGTCCTGA GTACCCATCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGGTGG TGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGGTGG TGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGTTGG TGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTGGGT TGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCCGGCCCACTG GGCTGTTGGTGGTCCTGAGTACCCATCACAGGGCTGGAGGTGTGGCCGGC CCACTGGGTTGGTGGTGGTGGGTGCCCGTCACAGGGCTGGAGGTGTGGCC GGCCCACTGGG	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		162		chr21	TogoVar
SPIRE2_chr16_89823475_89876319	89843760	C C	CGTGATCT others(638): Show CGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTC CTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCC CAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCA GGATGGTCTCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAA AGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGC GTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCC GGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCA GGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAGTGAGCCGACATCGT GTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAGTGCTG GGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTTTTTTTTTTTTTTTT TTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGCACGCAGTTGT	intron_variant intron_variant	MODIFIER	HG02723.hp2 NA18906.hp1 HG02723.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0282 a0001c0001t0001g0095 a0001c0001t0001g0282	2	356	0.0056	645	c.245 others(662): Show c.245-1555_245-1554insAGGCTCACTGCAACCTCCGCCTCCCAGG TTCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCA CCTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTT CGCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCA CCTTGGCCTCCCAAAGTGCTGGGATTGCCGGGCGCTGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGG AGTTCGAGACCAGCGTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAA TACAAAAATTAGCCGGGCGTGGTGGCGCGCGCCTGTAATCCCAGCTACTC AGGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGAGACGGAGGTTGCAG TGAGCCGACATCGTGTCACTGCACTCCAGCCTGGCGACAGAGCGAGACTC CATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAACAAAGTGCTGGGATTACAGGCATGAGTCACTGTGCCTGGCTTTTTT TTTTTTTTTTTTTTTTTTGAGACAGGTCTCGTTCTGTTGCCAAGGCTGGC ACGCAGTTGTGTGATCT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRSF9_chr12_120456672_120474748	120467972	G G	GTAATCAG others(638): Show GTAATCAGAAGAATCGATTGAACCTGGGAGGCCGAGGTTGCAGTGAGCGG AGACAGTGACATCGCACTCCAGCCTGGGCAACAAGAGCAAAACTCCGTCT CAAAAAAATAAAGAAAAATAAAAAAAACAAATCCCTCGAACTTTTTCTCT TTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCACCAGGCTGGGATGTAG TGGCGCCATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGAGATT CTCCTGCCTCAGCCTCCCGAGGAACTGGGACTACAGGCGCGCGCCACCAC GCCCAGCTCATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGG CCAGGATGGTCTCGATCTCTTGACCTTGTGATCCGCCCGCCTCGGCCTCC TAAAGTGCTGGGATTGCCACTAGCTTTCTATCAGTAACTCTAAATCCTCA ATATCCTGATCTGTAAAATCTGGTTAACCATACAGGCCGGGTGAGGTGGC TCACGCCTGTAATCCTAGCATTTTGGGAGGCTGAGGCGGGCGGATCACCT CAGGTCGGGAATTCGAGACCAGCCTGACCAACAAGGAGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCGCATGCCTA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01981.hp2 HG01069.hp1 HG01981.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0035 a0002c0004t0001g0035	2	444	0.0045	645	c.188 others(662): Show c.188+1449_188+1450insTAGGCATGCGCCACCACGCCTGGCTAAT TTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCTTGTTGGTCAGGCTGG TCTCGAATTCCCGACCTGAGGTGATCCGCCCGCCTCAGCCTCCCAAAATG CTAGGATTACAGGCGTGAGCCACCTCACCCGGCCTGTATGGTTAACCAGA TTTTACAGATCAGGATATTGAGGATTTAGAGTTACTGATAGAAAGCTAGT GGCAATCCCAGCACTTTAGGAGGCCGAGGCGGGCGGATCACAAGGTCAAG AGATCGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAA TACAAAAATGAGCTGGGCGTGGTGGCGCGCGCCTGTAGTCCCAGTTCCTC GGGAGGCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGAGGTTGCAG TGAGCCGAGATGGCGCCACTACATCCCAGCCTGGTGACAGAGCAAGACTC CATCTCAAAAAAAAAAAAAGAGAAAAAGTTCGAGGGATTTGTTTTTTTTA TTTTTCTTTATTTTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGG AGTGCGATGTCACTGTCTCCGCTCACTGCAACCTCGGCCTCCCAGGTTCA ATCGATTCTTCTGATTA	SRSF9	ENSG00000111786.10	transcript	ENST00000229390.8	protein_coding	1/3			chr12	TogoVar
TBCD_chr17_82747065_82950914	82785544	G G	GTGTGACT others(638): Show GTGTGACTGGGACCACTGGATCCCGTCCATCGCAGCGGGAGGGGGGTCCA TGCTGTGTGACTGGGACCACTGGACCCCACCCATCGCAGCGGGAGGGGGG TCCATGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGAGG GGGGTCCATGCTGTGTGACTGGGACCACTGGATCCCGCCCATCGCAGCGG GAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCA GCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCGACCCAT CGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCGAC CCTTCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACC CGACCCTTCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTG GACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACC ACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGG GACCACTGGATCCCACCCATCGCAGCGGGAGAGGGGTCCATGCTGTGTGA CTGGGACCACTGGACCCGACCCATCGCAGCGGGAGGGGGTCCGTGC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0041 a0001c0041	a0001c0041t0003 a0001c0041t0003	a0001c0041t0003g0133 a0001c0041t0003g0133	1	318	0.0031	645	c.771 others(662): Show c.771+3842_771+3843insTCCCGTCCATCGCAGCGGGAGGGGGGTC CATGCTGTGTGACTGGGACCACTGGACCCCACCCATCGCAGCGGGAGGGG GGTCCATGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGA GGGGGGTCCATGCTGTGTGACTGGGACCACTGGATCCCGCCCATCGCAGC GGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCGACCCATCG CAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCGACCC ATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCG ACCCTTCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGA CCCGACCCTTCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCAC TGGACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGA CCACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACT GGGACCACTGGATCCCACCCATCGCAGCGGGAGAGGGGTCCATGCTGTGT GACTGGGACCACTGGACCCGACCCATCGCAGCGGGAGGGGGTCCGTGCTG TGACTGGGACCACTGGA	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TBCD_chr17_82747065_82950914	82785544	G G	GTGTGACT others(638): Show GTGTGACTGGGACCACTGGATCCCGTCCATCGCAGCGGGAGGGGGGTCCA TGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGAGGGGGG TCCATGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGAGG GGGGTCCATGCTGTGTGACTGGGACCACTGGATCCCGCCCATCGCAGCGG GAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCA GCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCGACCCAT CGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCGAC CCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACC CGACCCTTCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTG GACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACC ACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGG GACCACTGGATCCCACCCATCGCAGCGGGAGAGGGGTCCATGCTGTGTGA CTGGGACCACTGGACCCGACCCATCGCAGCGGGAGGGGGTCCGTGC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0021 a0021	a0021c0042 a0021c0042	a0021c0042t0044 a0021c0042t0044	a0021c0042t0044g0137 a0021c0042t0044g0137	1	318	0.0031	645	c.771 others(662): Show c.771+3842_771+3843insTCCCGTCCATCGCAGCGGGAGGGGGGTC CATGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGAGGGG GGTCCATGCTGTGTGACTGGGACCACTGGACCCGACCCATCGCAGCGGGA GGGGGGTCCATGCTGTGTGACTGGGACCACTGGATCCCGCCCATCGCAGC GGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCGACCCATCG CAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCGACCC ATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGACCCG ACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCACTGGA CCCGACCCTTCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGACCAC TGGACCCGACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACTGGGA CCACTGGATCCCACCCATCGCAGCGGGAGGGGGGTCCATGCTGTGTGACT GGGACCACTGGATCCCACCCATCGCAGCGGGAGAGGGGTCCATGCTGTGT GACTGGGACCACTGGACCCGACCCATCGCAGCGGGAGGGGGTCCGTGCTG TGACTGGGACCACTGGA	TBCD	ENSG00000141556.22	transcript	ENST00000355528.9	protein_coding	7/38		INFO_REALIGN_3_PRIME	chr17	TogoVar
TCF3_chr19_1604292_1657615	1628699	A A	ACGGGGGT others(638): Show ACGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGA AGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGC TCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGATGAGGCGG GAAGGGGACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGA GCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGTG GGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAG GCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAG CAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGG ACAGCAGAACTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACT	intron_variant intron_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0038 a0001c0005t0038	a0001c0005t0038g0025 a0001c0005t0038g0025	1	352	0.0028	645	c.299 others(662): Show c.299-1274_299-1273insAGTTCTGCTGTCCCCTTCCCGCCTCACC CCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCTGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCACC TCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCT CTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCC CGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGA GTTCTGCTGTCCCCTTCCCACCTCACCCCGTGAGTTCTGCTGTCCCCTTC CCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTG AGTTCTGCTGTCCCCTTCCCGCCTCATCCCCGTGAGCTCTGCTGTCCCCT TCCCGCCTCACCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTG TGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCCG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629082	C C	CGGGAAGG others(638): Show CGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACGGGGTG AGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGGAC AGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGG GTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCATGG GGATGGGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACA GGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGGGA AGGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAGCAGAGCT CACGGGTGGGGCGGGAAGGGGACAGAAGAGCTCATGGGGATGGGGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	352	0.0028	645	c.299 others(662): Show c.299-1657_299-1656insACCCCATCCCCATGAGCTCTTCTGTCCC CTTCCCGCCCCACCCGTGAGCTCTGCTGTCCCCTTCCCACCCCATCCCCA TGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGT CCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCT GTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCGTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCT GCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCTGCTGTCCCCTTCCCGCC TCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGC TCTGCTGTCCCCTTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1629082	C C	CGGGAAGG others(638): Show CGGGAAGGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAG AGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTG AGGCGGGAAGGGGACAGCAGAACTCACGGGGTGAGGCGGGAAGGGGACAG CAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGG ATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGG GACAGCAGAGCTCACGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCATGG GGATGGGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGG GGACAGCAGAGCTCACGGGGTGGGGCGGGAAGGGGACAGCAGAGCTCACA GGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAA GGGGACAGCAGAGCTCACGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCA CAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGTGGGGCGGGA AGGGGACAGCAGAGCTCATGGGGATGGGGTGGGAAGGGGACAGCAGAGCT CACGGGTGGGGCGGGAAGGGGACAGAAGAGCTCATGGGGATGGGGT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0267 a0001c0001t0002g0267	1	352	0.0028	645	c.299 others(662): Show c.299-1657_299-1656insACCCCATCCCCATGAGCTCTTCTGTCCC CTTCCCGCCCCACCCGTGAGCTCTGCTGTCCCCTTCCCACCCCATCCCCA TGAGCTCTGCTGTCCCCTTCCCGCCCCACCCCGTGAGCTCTGCTGTCCCC TTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCC GTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCC CCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCCCACC CCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGT CCCCTTCCCACCCCATCCCCATGAGCTCTGCTGTCCCCTTCCCGCCCCAC CCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCT GTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCT CACCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGTTCT GCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCCTTCCCG CCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCGTGAGC TCTGCTGTCCCCTTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TEX29_chr13_111315642_111349248	111340734	A A	AATCATAA others(638): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCATCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATAATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCAT AACCCCTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACC TGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTT GTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATG AACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAC	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0258 a0001c0002t0003g0258	1	416	0.0024	645	c.239 others(662): Show c.239+1274_239+1275insAATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA ACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCATC TGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTT GTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATG AAAATAATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCA TAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCC TGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAG TGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCAC CTGTGCTTGTTGATGAA	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TEX29_chr13_111315642_111349248	111341078	A A	AATCATAA others(638): Show AATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATA ACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTG TTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTG AGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCT GTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTG TTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGA AAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCAT AACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGT GTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGT GAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACC TGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTT GTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATG AACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01981.hp1 HG00099.hp1 HG01981.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0097 a0001c0002t0001g0101 a0001c0002t0001g0097 a0001c0002t0001g0101	2	416	0.0048	645	c.239 others(662): Show c.239+1156_239+1157insGTGTTTAGTGAGCACCTGTGCTTGTTGA TGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACAT CATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACC CGTGTTTAGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTT AGTGAGCACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGC ACCTGTGCTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTG CTTGTTGATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTG ATGAAAATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACA TCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAAC CCGTGTTTAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTT TAGTGAGCACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAG CACCTGTGCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGT GCTTGTTGATGAACATCATAACCCGTGTTTAGTGAGCACCTGTGCTTGTT GATGAACATCATAACCC	TEX29	ENSG00000153495.11	transcript	ENST00000283547.2	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TLL2_chr10_96359608_96518926	96415729	G G	GTCTCTCT others(638): Show GTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGT CTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCT CTGTCTCTCTCTCTCTGTCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCT CTCTCTGTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTCTCTGT CTCTCTCTCTCTCTCTGTCTCTGTCTCTCTCTCTCTCTCTGTCTCTGTCT CTCTCTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTTTCTCTCTCTGTCT CTCTCTCTCTCTCTGTCTCTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCT CTCTCTCTCTCTGTCTCTCTCTGTCTCTTTCTCTCTGTCTCTCTCTGTCT CTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTCTCTCTGTCC TCTTTCTCTCTCTCTCTCTCTGTCTCTTTCTCTCTCTCTCTGTCTCTGTC TCTCTCTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTCTCTCTC TCTCTCTGTCTCTCTCTGTCTCTCTCTCTGTCTCTCTCTCTCTGTC	intron_variant intron_variant	MODIFIER	NA19091.hp2 NA19091.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0187 a0001c0002t0004g0187	1	256	0.0039	645	c.924 others(662): Show c.924-2414_924-2413insGACAGAGAGAGAGAGACAGAGAGAGAGA CAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGA GACAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAAAGAGACAGA GAGAGAGAGAGAGAAAGAGGACAGAGAGAGAGAGAGAGAGAAAGAGACAG AGAGAGAGAGAGAGAAAGAGACAGAGAGAGACAGAGAGAAAGAGACAGAG AGAGACAGAGAGAGAGAGAGAGAGAAAGAGACAGAGAGAGAGAGAGAGAG AGACAGAGAGAGAGAGAGAGACAGAGAGAGAAAGAGACAGAGAGAGAGAG ACAGAGAGAGAGAGAGAGAGACAGAGACAGAGAGAGAGAGAGAGACAGAG ACAGAGAGAGAGAGAGAGACAGAGAGAGAGAGAGAGACAGAGAGAGAGAC AGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGAGAG ACAGAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAGACAGAGAGAGAG ACAGAGAGAGAGAGACAGAGAGAGAGAGAGACAGAGAGAGAGAGACAGAG AGAGAGACAGAGAGAGAGACAGAGAGAGAGAGACAGAGAGAGAGAGAGAG AGAGAGACAGAGAGAGA	TLL2	ENSG00000095587.9	transcript	ENST00000357947.4	protein_coding	7/20			chr10	TogoVar
TMPRSS9_chr19_2355265_2431261	2377592	C C	CTCTCCCC others(638): Show CTCTCCCCTCCCCTCTCCCCCCCGTCTCCCCTCTCCTCTGTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTC TCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCCCT CCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCT CCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCC CTCTCCCCTCCCCCCTCTCCCCTCTCCCCTACCCTCTCCCCTCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTTCTCTCTC CTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTC TCCTCCCCTCTCCCCTCTCCCCTCTCCTCTCTCCTCCCCTCTCCCCTCCC CTCGCCCTTCCCCTCCCCTCGCCCTTCCCCTCTTCCCTCCCCTCTCCCCT CTCCCCTCCCCTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCC CCTTCCCTCCCGTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCC CTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0001 a0016c0016t0001	a0016c0016t0001g0111 a0016c0016t0001g0111	1	114	0.0088	645	c.-25 others(664): Show c.-25-12167_-25-12166insTCCCCTCCCCTCTCCCCCCCGTCTCC CCTCTCCTCTGTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCC CCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCC CCTCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTCCC CTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCT CCCCCCTCCCCTCCCCCTCCCCTCTCCCCTCCCCCCTCTCCCCTCTCCCC TACCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCC TCTCCCCTCCCCTTCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCC CCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTCCCCTCTCCCCTCTCCTC TCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTCGCCCTTCCC CTCTTCCCTCCCCTCTCCCCTCTCCCCTCCCCTCCCATCTCCCCTCTCAT CTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCGTCCCCTCTCCCCTTCCC TCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTTCCCTCCCCT CCCCTCCCCCTCCCCCTTC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TMPRSS9_chr19_2355265_2431261	2377593	T T	TCTCCCCT others(638): Show TCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCTCCCCTCCCCTCCCCTCTC CTCCCCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCCTCCCCTCTCCTCTC CCCCCTCCCCCCCCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCC TCCCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCTCC CCTCCCCTCTCCCCTCCCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCTCC CCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCC TCTCCCCTCCCCTCTCCCCTCCCCTCCACTCCTCTCTCCTCCCCTCCTCT CTCTTCCCCTCTCCTCCCCTCTCTCCTCTCCTCCCCTCTCCTCCCCTCTC CCCTCTCCTCCCCTCTCCCCTCCCCTCGCCCTTCCCCTCCCCTGGCCCTT CCCCTCTTCCCTCCTCTCTCCCCTCTCCCCTCCACTCCCATCTCCCCTCT CATCTCCCCTCTCCCCTCCTCTCCCCTTCCCTCCCCTCCCCTCTCCCCTT CCCTCCCCTCCCCCCTCCCCCTTCCCTTCCCCTCTCCCCTCCCCTCTCCC TTTCCCTCTCCCCTTCCCTCCCCTCCCCTCCCCTCCCCTACCCCTC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0059 a0002c0001t0001g0059	1	114	0.0088	645	c.-25 others(664): Show c.-25-12167_-25-12166insTCCCCTCTCCCCTCCCCTCTCCCCTC TCCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCCTCCCCTCTCCCCTCTCC CCTCCCCCTCCCCTCTCCTCTCCCCCCTCCCCCCCCTCCCCTCCCCTCTC CCCTCCCCTCTCCCCTCCCCCCTCCCCTCTCCCCTCTCCCCTCTCCCCTC CCCTCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCTCCCCTCCCCTCTCCCCTCTCCCCTCCCCTC TCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCTCCCCTCCCCTCCA CTCCTCTCTCCTCCCCTCCTCTCTCTTCCCCTCTCCTCCCCTCTCTCCTC TCCTCCCCTCTCCTCCCCTCTCCCCTCTCCTCCCCTCTCCCCTCCCCTCG CCCTTCCCCTCCCCTGGCCCTTCCCCTCTTCCCTCCTCTCTCCCCTCTCC CCTCCACTCCCATCTCCCCTCTCATCTCCCCTCTCCCCTCCTCTCCCCTT CCCTCCCCTCCCCTCTCCCCTTCCCTCCCCTCCCCCCTCCCCCTTCCCTT CCCCTCTCCCCTCCCCTCTCCCTTTCCCTCTCCCCTTCCCTCCCCTCCCC TCCCCTCCCCTACCCCTCC	TMPRSS9	ENSG00000178297.15	transcript	ENST00000696167.1	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
TNFSF13B_chr13_108264718_108313478	108278578	C C	CTCCTCCT others(638): Show CTCCTCCTCCTCTTCCTCCTCCTCTGCTCCTGTCCTCCTCTTCTTCCTCC TCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTGCTCT GCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCTCCTTTCCTCC TCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCCTCCTCCTTCT CCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCTTCCTCCTCCT CCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCTCTTC CTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCTCCTCTGCTTC TCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCCTCCTCCTCCC CTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCCCCTCC TCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTCCACTTCTCTT TCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCCC CTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCC TCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCTCT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	384	0.0026	645	c.424 others(662): Show c.424+8165_424+8166insTTCCTCCTCCTCTGCTCCTGTCCTCCTC TTCTTCCTCCTCCCCTTTTCCTCTTCCTCCTCCTCCCCTCCTCTCCTCCT CCTCTGCTCTGCTCCTCCTCTTCCTCCTCCTCCTCTTCCTCCTCTCCCCT CCTTTCCTCCTCCTCCCCTTCTCTTCTTCCTCCTCCTCCACTTCTCTCCC TCCTCCTTCTCCTCTCCCTCCTCCTCCCCTCCTCTCCCTCCTCCTCCTCT TCCTCCTCCTCCTGCTCTTCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCC CCTTCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCCTTCCTCCT CCTCTGCTTCTCTTTCTCCTCCTCCTCCCCTCCTCTCCTCCTCCTCTTCC TCCTCCTCCCCTTCTCTTCCTCCTCCTCCTCCCCTCCTCTCCCTCCTCCT CCTCCCCTCCTCTCCTCCTCCCCTTCCTCCTCCTCCCCTTCCTCCTCCTC CACTTCTCTTTCTCCTCCTCCCCTCCTCTCCTCCTCCTCCCCTCCTCTCC TCCTCCTCCCCTCCTCTCCTCCTCCTCTCCTCCTCTCCTCCTCCTCTCCT CCTCTCCTCCTCCTCTTCCTCCTCCTCCCCTTCTCTTCCTCCTCCTCCCC TTCTCTTCCTCCTCCTC	TNFSF13B	ENSG00000102524.12	transcript	ENST00000375887.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr13	TogoVar
TNNT3_chr11_1914703_1943702	1942138	T T	TGGCAGGG others(638): Show TGGCAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAG GGAGGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGG GGGGAGGAAGGTGGGAGGGAGGGGGGGAGGAAGGTGGGAGGGAGGGGGGA GGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGG TGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGTGGGGGAGGAAGGTGGCA GGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGG GGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGGA GGAAGGTGGGAGGGAGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGT GGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGG GAGGGGGGAGGAAGGTGGGAGGGAGTGGGGGAGGAAGGTGGCAGGGAGGG GGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGGAG GAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGT GGGAGGGAGGGGGGGAGGAAGGTGGGAGGGAGGGGGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	125	0.0080	645	c.36 others(656): Show c.3646_*3647insGGCAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGG GGAGGAAGGTGGGAGGGAGGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGG AAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGGAGGAAGGT GGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGG GAGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGTGG GGGAGGAAGGTGGCAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGG AAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTG GGAGGGAGGGGGGGAGGAAGGTGGGAGGGAGGGGGAGGAAGGTGGGAGGG AGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGG GAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGGGAGTGGGGGAGGA AGGTGGCAGGGAGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGG GAGGGAGGGGGGGAGGAAGGTGGGAGGGAGGGGGGAGGAAGGTGGGAGGG AGGGGGGAGGAAGGTGGGAGGGAGGGGGGGAGGAAGGTGGGAGGGAGGGG GGGAGGGAGGG	TNNT3	ENSG00000130595.20	transcript	ENST00000278317.11	protein_coding		3437		chr11	TogoVar
TOX_chr8_58800412_59124147	59092319	A A	ATTATATA others(638): Show ATTATATATATTATATATTATATATACATTATATATATTATATATTATAT ATACATTATATATATTATATATTATATATACATTATATATATTATATATT ATGTATACATTATATATATTATATATTATGTATACATTATATATATTATA TATTATGTATACATTATATATATTATATATTATGTATACATTATATATAT TATATATTATGTATACATTATATATATTATATATTATGTATACATTATAT ATATTATATATTATGTATACATTATATATATTATATATTATGTATACATT ATATATATTATATATTATGTATACATTATATATTATATATTATGTATACA TTATATATTATATATTATGTATACATTATATATATTATATATTATGTATA CATTATATATATTATATATTATGTATACATTATATATATTATATATTATG TATACATTATATATATTATATATTATGTATACATTATATATATTATATAT TATGTATACATTATATATATTATATATTATGTATACATTATATATATTAT ATATTATGTATACATTATATATATTATATATTATGTATACATTATATATA TTATATATTATGTATACATTATATATATTATATATTATGTATACAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0013 a0001c0001t0003g0013	1	224	0.0045	645	c.102 others(664): Show c.102+26566_102+26567insATGTATACATAATATATAATATATAT AATGTATACATAATATATAATATATATAATGTATACATAATATATAATAT ATATAATGTATACATAATATATAATATATATAATGTATACATAATATATA ATATATATAATGTATACATAATATATAATATATATAATGTATACATAATA TATAATATATATAATGTATACATAATATATAATATATATAATGTATACAT AATATATAATATATATAATGTATACATAATATATAATATATATAATGTAT ACATAATATATAATATATAATGTATACATAATATATAATATATAATGTAT ACATAATATATAATATATATAATGTATACATAATATATAATATATATAAT GTATACATAATATATAATATATATAATGTATACATAATATATAATATATA TAATGTATACATAATATATAATATATATAATGTATACATAATATATAATA TATATAATGTATACATAATATATAATATATATAATGTATACATAATATAT AATATATATAATGTATACATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TOX_chr8_58800412_59124147	59092319	A A	ATTATATA others(638): Show ATTATATATATTATATATTATATATACATTATATATATTATATATTATAT ATACATTATATATATTATATATTATATATACATTATATATATTATATATT ATGTATACATTATATATATTATATATTATGTATACATTATATATATTATA TATTATGTATACATTATATATATTATATATTATGTATACATTATATATAT TATATATTATGTATACATTATATATATTATATATTATGTATACATTATAT ATATTATATATTATGTATACATTATATATATTATATATTATGTATACATT ATATATTATATATTATGTATACATTATATATTATATATTATGTATACATT ATATATATTATATATTATGTATACATTATATATATTATATATTATGTATA CATTATATATATTATATATTATGTATACATTATATATATTATATATTATG TATACATTATATATATTATATATTATGTATACATTATATATATTATATAT TATGTATACATTATATATATTATATATTATGTATACATTATATATATTAT ATATTATGTATACATTATATATATTATATATTATGTATACATTATATATA TTATATATTATGTATACATTATATATATTATATATTATGTATACAT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	224	0.0045	645	c.102 others(664): Show c.102+26566_102+26567insATGTATACATAATATATAATATATAT AATGTATACATAATATATAATATATATAATGTATACATAATATATAATAT ATATAATGTATACATAATATATAATATATATAATGTATACATAATATATA ATATATATAATGTATACATAATATATAATATATATAATGTATACATAATA TATAATATATATAATGTATACATAATATATAATATATATAATGTATACAT AATATATAATATATATAATGTATACATAATATATAATATATATAATGTAT ACATAATATATAATATATATAATGTATACATAATATATAATATATAATGT ATACATAATATATAATATATAATGTATACATAATATATAATATATATAAT GTATACATAATATATAATATATATAATGTATACATAATATATAATATATA TAATGTATACATAATATATAATATATATAATGTATACATAATATATAATA TATATAATGTATACATAATATATAATATATATAATGTATACATAATATAT AATATATATAATGTATACATAATATATAATATATATAATGTATATATAAT ATATAATATATATAATGTATATATAATATATAATATATATAATGTATATA TAATATATAATATATATAA	TOX	ENSG00000198846.6	transcript	ENST00000361421.2	protein_coding	1/8			chr8	TogoVar
TPK1_chr7_144446941_144841053	144780558	T T	TATATTAT others(638): Show TATATTATATAGTATATAATATAGTATATTATATTATATAGTATATAATA TAGTATATTATATTATATAGTATATAATATAGTATATTATATTATATAGT ATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATAT TATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGTA TATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATATA ATATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATAT AGTATATAATATATATTATATTATATAGTATATTATATTATATTATATAG TATATAATATAGTATATTATATTATATAGTATATAATATAGTATATTATA TTATATAGTATATAATATAGTATATTATATTATATAGTATATAATATAGT ATATTATATTATATAGTATATAATATAGTATATTATATTATATAGTATAT AATATAGTATATTATATTATATAGTATATAATATAGTATATTATATTATA TAGTATATAATATAGTATAGTATATTATATAGTATATAATATAGTATAGT ATATTATATAGTATATAATATAGTATAGTATATTATATAGTATATA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	1	118	0.0085	645	c.44- others(662): Show c.44-14608_44-14607insTATATACTATATAATATACTATACTATA TTATATACTATATAATATACTATACTATATTATATACTATATAATATACT ATACTATATTATATACTATATAATATAATATACTATATTATATACTATAT AATATAATATACTATATTATATACTATATAATATAATATACTATATTATA TACTATATAATATAATATACTATATTATATACTATATAATATAATATACT ATATTATATACTATATAATATAATATACTATATTATATACTATATAATAT AATATACTATATTATATACTATATAATATAATATAATATACTATATAATA TAATATATATTATATACTATATAATATAATATACTATATTATATACTATA TAATATAATATACTATATTATATACTATATAATATAATATACTATATTAT ATACTATATAATATAATATACTATATTATATACTATATAATATAATATAC TATATTATATACTATATAATATAATATACTATATTATATACTATATAATA TAATATACTATATTATATACTATATAATATAATATACTATATTATATACT ATATAATATAATATACTATATTATATACTATATAATATAATATACTATAT TATATACTATATAATAT	TPK1	ENSG00000196511.15	transcript	ENST00000360057.7	protein_coding	2/8			chr7	TogoVar
ZBTB34_chr9_126855639_126890878	126876166	C C	CCCCCCTT others(638): Show CCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCCCCCTCC CCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCC CCCTTCCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTCCCCCTTCCCCCC TTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTC CCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCCC CCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTT CCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCC CCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTT CCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCCCTTCCC CCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCTTCCCC CTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	246	0.0041	645	c.-10 others(662): Show c.-10-3209_-10-3208insCCCCCCTTCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCTTCCC CCCTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCC CCTTCCCCCTTCCCCCCCTTTCCCCCTTCCCTCTTCCCCCCTTCCCCCTT CCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCCTTTCC CCCTTCCCTCTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCC TTCCCCCCTTTCCCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCTTCC CCCCTTCCCCCCTTCCCCCTTCCCCCCTTCCCCCCTTCCCCCTTCCCCCC TTTCCCCCTTCCCCCCTTTCCCCCTTCCCCCTTCCCCCCTTTCCCCCTTC CCCCTTCCCCCCTTTCCCCCTTCTCCCTTCCCCCCTTTCCCCCTTCCCCC CTTCCCCCCTTTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCC TTCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCTTTCCCCCCTTCCCCCCT TTCCCCCTTCCCCCCTT	ZBTB34	ENSG00000177125.6	transcript	ENST00000319119.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr9	TogoVar

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