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
LRRC27_chr10_132327193_132386508	132364445	A A	ACACCCAC others(633): Show ACACCCACACTTACACCCACACTTACATCTACCTCCACACTCGCACTTAC ACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCGCGCTT ACACCCACACTTACATCTACCTCCACACCCACACTTACACCCACACTTAC ATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCACGCTT ACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACGC TTACATCTACCTCCACACCCACACTTACACCCACCCACACTTACACCCAC CCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCC ACCCACACTTACACCCACCCTTACATCTACCTCCACACCCACACTCACAC CCACCCACACTTACACCCACCCACACTTACACCCACCCTTACATCTACCT CCACACCCACACTCACACCCACCCACACTTACACCCACGCTTACATCTAC CTCCACGCCCACACTTACACTCATGCTTACATCTACCTCCACACCCACAC TCACACCCACCCACACTTACACCCACCCACACTTACACCCACGCTTACAT CTACCTCCACACCCACACTCACACCCACCCACACTTACACC	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA18988.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	252	0.0040	640	c.129 others(657): Show c.1290-969_1290-968insTACACCCACACTTACATCTACCTCCACA CTCGCACTTACACCCACGCTTACATCTACCTCCACACCCACACTTACACC CACCCGCGCTTACACCCACACTTACATCTACCTCCACACCCACACTTACA CCCACACTTACATCTACCTCCACACCCGCGCTTACACCCACCCACACTTA CACCCACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACT TACACCCACGCTTACATCTACCTCCACACCCACACTTACACCCACCCACA CTTACACCCACCCTTACATCTACCTCCACACCCACACTCACACCCACCCA CACTTACACCCACCCACACTTACACCCACCCTTACATCTACCTCCACACC CACACTCACACCCACCCACACTTACACCCACCCACACTTACACCCACCCT TACATCTACCTCCACACCCACACTCACACCCACCCACACTTACACCCACG CTTACATCTACCTCCACGCCCACACTTACACTCATGCTTACATCTACCTC CACACCCACACTCACACCCACCCACACTTACACCCACCCACACTTACACC CACGCTTACATCTACCTCCACACCCACACTCACACCCACCCACACTTACA CCCACCCACACT	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAP3K15_chrX_19355059_19520508	19478090	G G	GGGGGGGG others(633): Show GGGGGGGGGGGAGAGAGGGGGGAGGGGGAGAGAGGGGGGAGGGGGGAGAG AGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGG GGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGAGGGGGGAGGGGGGAGAGA GGGGGGAGGGGGGAGAGAGGGGGGAGGGAGGAGAGGGGGGAGGGGGGAGG GGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGAGGAGAGGGGGGAGGGG GGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGG AGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAG GGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGG GAGGGGGGAGGGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGG GGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGGAGGGGGGAGAGGGGGG AGGGGGGGGAGGGGGGAGAGGGGGGAGGGGGGGGAGGGGGGAGAGGGGGG AGGGGGGAGGGGGGGAGGGGGGAGGGGGGGAGGGGGGAGAGGGGGAGGGG GGAGAGGGGGAGGGGGGAGAGGGGGGAGAGAGGGGGAGAGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0120 a0002c0002t0003g0120	1	137	0.0073	640	c.525 others(657): Show c.525+8391_525+8392insTCTCTCCCCCTCTCTCCCCCCTCTCCCC CCTCCCCCTCTCCCCCCTCCCCCTCTCCCCCCTCCCCCCCTCCCCCCTCC CCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCCTCCCCCCTCTCCC CCCTCCCCCCCCTCCCCCCTCTCCCCCCTCCCCCCCCTCCCCCCTCTCCC CCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCC CCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTC TCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCC CCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCC CTCCCCCCTCTCCCCCCTCCCCCCTCTCCTCCCTCCCCCCTCTCCCCCCT CCCCCCTCTCCCCCCTCCCCCCTCCCCCCTCTCCTCCCTCCCCCCTCTCT CCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCT CTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCCTCCC CCCTCTCTCCCCTCTCTCCCCCCTCCCCCCTCTCTCCCCCTCCCCCCTCT CTCCCCCCCCCC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MOCS1_chr6_39899170_39939462	39926747	A A	AAGGGGGG others(633): Show AAGGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAAGGAGGGGGAA GGAGGAAGGCGGAAAGGGGGAGGGGAGAAGGGGAGGGGCAGGGGGAGGGG GAAAAGGGGCGGGGAAGGGGGGAAAAGGGGCAGGGGGAAGGGGGAAAGGG GTGGGGGGAAAGGGGGAAGGGGAAAGGGGTGAGGGGAAAGGGGGAAGGGG GGAAAGGGGTGAGGGGAGGATGGAGGGGGAGGGGGGAGGGGAGGGGGGAG GGGAGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGGGGAGGGGGAGGGGG AGGGGGAGGGGAGGGGGGAGGGGGAGGGGAGGGAGGGGGAGGAGGGAGGG GGAGGGGAGGGGGAGGGGAGGGGGGGGAAGGAGGGGGGAGGGGAGGGGGA GGGAAGAGGGGGAGGGGGAGGGAAGAGAGGGAGGGGGAGGGGGAGGGGGA GGGAAGGGAGGGAGGGGAGGGGGAGGGAGGGGAGGGAGGGGAGGGGGAGG GAGGGGAGGGGAGTGGAGGGGGAGGGGGAGGGAGGAGGGATGGGAGTGGA GGGGGGAGGGGGAGGGAGGGGAGGGGGAGGGGGAGGGGGAGGGAAGGGAG GGAGGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGAGGGTGG	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0007 a0003c0003t0007	a0003c0003t0007g0012 a0003c0003t0007g0012	1	8	0.1250	640	c.250 others(655): Show c.250+581_250+582insCCACCCTCCCTCCCCCTCCCCTCCCCTCCC CCTCCCCCTCCCTCCCTTCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCTC CCCCTCCCCCCTCCACTCCCATCCCTCCTCCCTCCCCCTCCCCCTCCACT CCCCTCCCCTCCCTCCCCCTCCCCTCCCTCCCCTCCCTCCCCCTCCCCTC CCTCCCTTCCCTCCCCCTCCCCCTCCCCCTCCCTCTCTTCCCTCCCCCTC CCCCTCTTCCCTCCCCCTCCCCTCCCCCCTCCTTCCCCCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCTCCTCCCCCTCCCTCCCCTCCCCCTCCCCCCT CCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCTCCCCTCCCCCCTCCCCTCCCCCCTCCCCCTCCATCCTCCCCT CACCCCTTTCCCCCCTTCCCCCTTTCCCCTCACCCCTTTCCCCTTCCCCC TTTCCCCCCACCCCTTTCCCCCTTCCCCCTGCCCCTTTTCCCCCCTTCCC CGCCCCTTTTCCCCCTCCCCCTGCCCCTCCCCTTCTCCCCTCCCCCTTTC CGCCTTCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTCCTTCCCCCTC CTTCCCCCCT	MOCS1	ENSG00000124615.20	transcript	ENST00000340692.10	protein_coding	2/10			chr6	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(633): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0284 a0002c0002t0002g0284	1	165	0.0061	640	c.394 others(655): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MTTP_chr4_99569824_99628997	99589035	A A	ACATATAT others(633): Show ACATATATATGTTCATATATATATTCATATATATATGTTCATGTATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATATGTTCATATATATAT TCATATATATATGTTCATATATATATTCATATATATATGTTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATTCATATATAT ATTCATATATATATGTTCATATATATATTCATATATATATGTTCATATAT ATATTCATATATATATGTTCATATATATATTCATATATATATGTTCATAT ATATATTCATATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG01981.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0274 a0002c0002t0002g0274	1	165	0.0061	640	c.394 others(655): Show c.394-573_394-572insGTTCATGTATATTCATATATATATGTTCAT ATATATATTCATATATATGTTCATATATATATTCATATATATATGTTCAT ATATATATTCATATATATATGTTCATATATATATTCATATATATATGTTC ATATATATATTCATATATATATGTTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATTCATATATATATTCATATATATATGT TCATATATATATTCATATATATATGTTCATATATATATTCATATATATAT GTTCATATATATATTCATATATATATGTTCATATATATATTCATATATAT ATGTTCATATATATATTCATATATATATGTTCATATATATATTCATATAT ATATGTTCATATATATATTCATATATATATGTTCATATATATATTCATAT ATATATGTTCATATATATATTCATATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATGTTCATATATATATTCAT ATATATATGTTCATATATATATTCATATATATATGTTCATATATATATTC ATATATATATGTTCATATATATATTCATATATATGTTCATATATATATTC ATATATATAT	MTTP	ENSG00000138823.14	transcript	ENST00000265517.10	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
MUC4_chr3_195741771_195816929	195770954	C C	CGGGTTGG others(633): Show CGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTG GTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGG TTGGGGTATTCCTGGTCAGTCTCGTGGCCGGGTTGGGGTATTCCTGGTCA GTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGTCTCGTCGTTGGGTTGG GGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCT CGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTA TTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCG GCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTTGGGGTATTCC TGGTCAGTCTCGTGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGTGGCCG GGTTGGGGTATTCCTGGTCAGTCTCGTGGCCGGGTTGGGGTATTCCTGGT CAGTCTCGCGGCCGGGTTGGGGTATTCCTGGTCAGTCTCGCGGCCGGGTT GGGGTATTCCTGGTCAGTCTCGTGGTTGGGTTGGGGTATTCCTGGTCAGT CTCGTGGCTGGGTTGGGGTATTCCTGGTCAGTCTCGTGGTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0073 a0073	a0073c0139 a0073c0139	a0073c0139t0005 a0073c0139t0005	a0073c0139t0005g0225 a0073c0139t0005g0225	1	235	0.0043	640	c.132 others(659): Show c.13243-584_13243-583insAACCACGAGACTGACCAGGAATACCC CAACCCAGCCACGAGACTGACCAGGAATACCCCAACCCAACCACGAGACT GACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAAC CCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCACGAGACTGACC AGGAATACCCCAACCCGGCCACGAGACTGACCAGGAATACCCCAACCCGG CCACGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGA ATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGC GAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATAC CCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGA CTGACCAGGAATACCCCAACCCAACGACGAGACTGACCAGGAATACCCCA ACCCAACCACGAGACTGACCAGGAATACCCCAACCCGGCCACGAGACTGA CCAGGAATACCCCAACCCGGCCGCGAGACTGACCAGGAATACCCCAACCC GGCCGCGAGACTGACCAGGAATACCCCAACCCGGCCGCGAGACTGACCAG GAATACCCCAACCC	MUC4	ENSG00000145113.22	transcript	ENST00000463781.8	protein_coding	5/24			chr3	TogoVar
MYO7A_chr11_77123246_77220241	77192891	A A	AGTGATGG others(633): Show AGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGTTGGTGG AGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTGGTGATGGTG GAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGTTGGT GTTGGTGGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTGG TGATGGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTGGTGATGGTG GAGGTAGTGATGGTGTTGTTGGTGTTGGTGGAGGTAGTGATGGTGTTGGT GATGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGT TTGTGATGGTGGAGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTG ATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGA GGTAGCGATGGTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGTTGATGG TGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTG ATGGTGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTTGTGA TGGTGGAGGTAGTGATGGTGTTGTTGGTGATGGTGGAGGTG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0005 a0005	a0005c0053 a0005c0053	a0005c0053t0001 a0005c0053t0001	a0005c0053t0001g0250 a0005c0053t0001g0250	1	341	0.0029	640	c.415 others(657): Show c.4152+638_4152+639insTAGTGATGGTGTTGGTGTTGGTGGAGGT AGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTGGTGATGGTGGAGG TAGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGTTGGTGTTG GTGGAGGTAGTGATGGTGTTGGTGATGGAGGTAGTGATGCTGTTGGTGAT GGTGGAGGTAGTGATGCTGTTGGTGATGGTGGAGGTGGTGATGGTGGAGG TAGTGATGGTGTTGTTGGTGTTGGTGGAGGTAGTGATGGTGTTGGTGATG GAGGTAGTGATGCTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGTTTGT GATGGTGGAGGTAGTGATGGTGTTGTTTGTGATGGTGGAGGTAGTGATGG TGTTGTTTGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGGTGGAGGTA GCGATGGTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGTTGATGGTGGA GGTAGTGATGGTGTTGGTGATGGTGGAGGTAGTGATGGTGTTGGTGATGG TGGAGGTAGTTGTTTGTGATGGTGGAGGTAGTGATGCTGTTTGTGATGGT GGAGGTAGTGATGGTGTTGTTGGTGATGGTGGAGGTGGTGATGGTGTTGG TGATGGTGGAGG	MYO7A	ENSG00000137474.23	transcript	ENST00000409709.9	protein_coding	31/48		INFO_REALIGN_3_PRIME	chr11	TogoVar
MYRIP_chr3_39804609_40265321	40203779	T T	TTATATAG others(633): Show TTATATAGTATATATGTGATATATTTATATATAAATATATGTGATATATT TATATATAAATATTTATATTTTATATATTTATATATTTTATATATTTATA TATAAATATTTATATTTTATATATTTATATATTTTATGATTTTATAAAAT ATATAATTTATATAATTTATAAATTATATAATTTATATATTATATATAAT ATGTTTATATTAAATATTATATATTATATATTATATATTATATATTTATA TTAAATATTATATATTTAATATAATATATAATATATTTATATTAAATATT ATATATTTATATATTATATATATTTATATTAAATATTATATATTTATATA TTATTCATATTTATATTAAATATTATATATTTATATATTATATATATTTA TATTAAATATTATATATTTATATATTATATATATTTATATTAAATATTAT ATATTTATATATTATATATATTTATATTAAATATTATATATTTATATATT ATATATAATATATTTATATTGAATATTATATATTTATATATTATATATAA TATATTTATATTGAATATTATATATTTATATATTATATATAATATATTTA TATTGAATATTATATATTTATATATTATATAAATATATATG	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0019 a0002c0008t0019	a0002c0008t0019g0098 a0002c0008t0019g0098	1	64	0.0156	640	c.166 others(659): Show c.1666-6072_1666-6071insATAGTATATATGTGATATATTTATAT ATAAATATATGTGATATATTTATATATAAATATTTATATTTTATATATTT ATATATTTTATATATTTATATATAAATATTTATATTTTATATATTTATAT ATTTTATGATTTTATAAAATATATAATTTATATAATTTATAAATTATATA ATTTATATATTATATATAATATGTTTATATTAAATATTATATATTATATA TTATATATTATATATTTATATTAAATATTATATATTTAATATAATATATA ATATATTTATATTAAATATTATATATTTATATATTATATATATTTATATT AAATATTATATATTTATATATTATTCATATTTATATTAAATATTATATAT TTATATATTATATATATTTATATTAAATATTATATATTTATATATTATAT ATATTTATATTAAATATTATATATTTATATATTATATATATTTATATTAA ATATTATATATTTATATATTATATATAATATATTTATATTGAATATTATA TATTTATATATTATATATAATATATTTATATTGAATATTATATATTTATA TATTATATATAATATATTTATATTGAATATTATATATTTATATATTATAT AAATATATATGTAT	MYRIP	ENSG00000170011.14	transcript	ENST00000302541.11	protein_coding	10/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
MYT1L_chr2_1784113_2336275	2004243	G G	GTTCTTTC others(633): Show GTTCTTTCCTGCAGGCATTCTTTCCTGCAGGCGTTCTTTCCTGCATGCGT TCTTTCCTGCATGCGTTCTTTCCTGCATGCGTTCTTTCCTGCAGGCGTTC TTTCCTGCATACGTTCTTTCCTGCGTGCCTTCTTTCCTGTGTGCCTTCTT TCCTGCAGGCGTTCTTTCCTGCATGCGTTCTTTCCTGCATGCGTTCTTTC CTGCATGCGTTCTTTCCTGCAGGCGTTCTTTCCTGAATATGTTCTTTCCT GCTTGCCTTCTTTCCTGCAGGCATTCTTTCCTGCAGGCATTATTTCCTGC ATACGTTCTTTCCTGCATGCGTTCTTTCCTGCGTGCCTTCTCTCCTGCAG GTGTTCTTTCCTGCATGCGTTCTTTCCTGCAGGCATTCTTTCCTGTGTGC CTTCTTTCCTGCAGGCATTCTTTCCTGCAGGCATTCTTTCCTGCAGGCGT TCTTTCCTGCATGCGTTCTTTCCTGCATGCGTTCTTTCCTGCATGCGTTC TTTCCTGCATGCGTTCTTTCCTGCATACGTTCTTTCCTGCGTGCCTTCTT TCCTGTGTGCCTTCTTTCCTGCAGGCGTTCTTTCCTGCATGCGTTCTTTC CTGCATACGTTCTTTCCTGCGTGCCTTCTTTCCTGTGTGCC	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0086 a0001c0006t0001g0086	1	55	0.0182	640	c.-15 others(659): Show c.-157-6897_-157-6896insGGCACACAGGAAAGAAGGCACGCAGG AAAGAACGTATGCAGGAAAGAACGCATGCAGGAAAGAACGCCTGCAGGAA AGAAGGCACACAGGAAAGAAGGCACGCAGGAAAGAACGTATGCAGGAAAG AACGCATGCAGGAAAGAACGCATGCAGGAAAGAACGCATGCAGGAAAGAA CGCATGCAGGAAAGAACGCCTGCAGGAAAGAATGCCTGCAGGAAAGAATG CCTGCAGGAAAGAAGGCACACAGGAAAGAATGCCTGCAGGAAAGAACGCA TGCAGGAAAGAACACCTGCAGGAGAGAAGGCACGCAGGAAAGAACGCATG CAGGAAAGAACGTATGCAGGAAATAATGCCTGCAGGAAAGAATGCCTGCA GGAAAGAAGGCAAGCAGGAAAGAACATATTCAGGAAAGAACGCCTGCAGG AAAGAACGCATGCAGGAAAGAACGCATGCAGGAAAGAACGCATGCAGGAA AGAACGCCTGCAGGAAAGAAGGCACACAGGAAAGAAGGCACGCAGGAAAG AACGTATGCAGGAAAGAACGCCTGCAGGAAAGAACGCATGCAGGAAAGAA CGCATGCAGGAAAGAACGCATGCAGGAAAGAACGCCTGCAGGAAAGAATG CCTGCAGGAAAGAA	MYT1L	ENSG00000186487.21	transcript	ENST00000647738.2	protein_coding	4/24			chr2	TogoVar
NFATC1_chr18_79390930_79534323	79532251	C C	CTGCAGCC others(633): Show CTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCTTGCAGCCCC CCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCG GCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTC CTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTC TTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0049 a0001c0006t0049	a0001c0006t0049g0049 a0001c0006t0049g0049	1	279	0.0036	640	c.46 others(651): Show c.4674_*4675insTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCGCCTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCA GCCCCCCGCCCCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCC CCCCGGCAGACCCTCCTGTCTCCGCCTGCAGCCCCCCGCCCCCCGGCAGA CCCTCCTGTCTCCTCTTGCAGCCCCCCGCCCCCCGGCAGACCCTCCTGTC TCCTCT	NFATC1	ENSG00000131196.18	transcript	ENST00000427363.7	protein_coding		2929		chr18	TogoVar
NLRP4_chr19_55831540_55886855	55850164	A A	AATTTCCG others(633): Show AATTTCCGAGACTGTGGTGTAATTTCCGTAGCTGTGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGT GATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTGGAATTTCCGAG ACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGG AATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGAG GCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGT GATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGG GATTTCCGTGACTGCGGTGGGATTTCCGTGGCTGCGGTGGG	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0369 a0001c0001t0005g0369	1	375	0.0027	640	c.-65 others(657): Show c.-65-1845_-65-1844insAGACTGTGGTGTAATTTCCGTAGCTGTG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTC CGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCG GTGGAATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTC CGAGACTGCGGTGGAATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCG GTGTAATTTCCGAGGCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTC CGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGGGATTTCCGTGACTGCGGTGGGATTTCCGTGGCTGCG GTGGGATTTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850164	A A	AATTTCCG others(633): Show AATTTCCGAGACTGTGGTGTAATTTCCGTAGCTGTGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGT GATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTGGAATTTCCGAG ACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGT AATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTGATTTCCGAG GCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGT GATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGG GATTTCCGTGACTGCGGTGGGATTTCCGTGACTGCGGTGTG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0012 a0002c0003t0012	a0002c0003t0012g0217 a0002c0003t0012g0217	1	375	0.0027	640	c.-65 others(657): Show c.-65-1845_-65-1844insAGACTGTGGTGTAATTTCCGTAGCTGTG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTC CGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCG GTGGAATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTC CGAGACTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCG GTGTGATTTCCGAGGCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTC CGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGGGATTTCCGTGACTGCGGTGGGATTTCCGTGACTGCG GTGTGATTTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NLRP4_chr19_55831540_55886855	55850164	A A	AATTTCCG others(633): Show AATTTCCGAGACTGTGGTGTGATTTCCGTAGCTGTGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGT GATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCGGTGGAATTTCCGAG ACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGT AATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGAG GCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGT GATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGAG ACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGT GATTTCCGAGACTGCGGTGGGATTTCCGTGACTGCGGTGGG	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0007 a0001c0033t0007	a0001c0033t0007g0343 a0001c0033t0007g0343	1	375	0.0027	640	c.-65 others(657): Show c.-65-1845_-65-1844insAGACTGTGGTGTGATTTCCGTAGCTGTG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTC CGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGAGACTGCG GTGGAATTTCCGAGACTGCGGTGGAATTTCCGAGACTGCGGTGGAATTTC CGAGACTGCGGTGTAATTTCCGTGGCTGCGGTGTAATTTCCGTGGCTGCG GTGTAATTTCCGAGGCTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTC CGTAGCTGCGGTGTGATTTCCGTAGCTGCGGTGTGATTTCCGTAGCTGCG GTGTGATTTCCGAGACTGCGGTGTGATTTCCGAGACTGCGGTGTGATTTC CGAGACTGCGGTGTGATTTCCGAGACTGCGGTGGGATTTCCGTGACTGCG GTGGGATTTCCG	NLRP4	ENSG00000160505.16	transcript	ENST00000301295.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr19	TogoVar
NRDC_chr1_51784210_51883727	51852550	G G	GTTTTAAA others(633): Show GTTTTAAACTATATAGTTTATAGTTTTAAACTATATAGTTTATATAGTTT TAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATATAGT TTTAAACTATATAGTTTATATATAGTTTTAAACTATATAGTTTATATAGT TTAAAACTATATAGTTTATATAGTTTAAACTATATAGTTTATATAGTTTT AAACTATATAGTTTATATAGTTTTAAACTATATAGTTTAAACTATATAGT TTTAAACTATATAAACTATATAGTTTTAAACTAGTTTATATATAGTTTTA AACTAGTTTAAACTATATAGTTTATGTAGTTTTAAACTATATAGTTTATG TAGTTTTAAACTATATAGTTTTAAACTACGTAGTTTTAAACTATATAGTT TTAAACTACGTAGTTTTAAACTATATAGTTTTAAACTACGTAGTTTTAAA CTATATAGTTTTAAACTACGTAGTTTTAAACTATATAGTTTTAAACTATG TAGTTTTAAACTATATAGTTTTAAACTACGTAGTTTTAAACTATATAGTT CATGTAGTTTTAAACTATATAGTTTAAAACTATATAGTTTATGTAGTTTT AAACTAGTTTATATTTTTTTATATAGTTTAAACTATATAGT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0234 a0001c0006t0001g0234	1	38	0.0263	640	c.342 others(659): Show c.342-12037_342-12036insACTATATAGTTTAAACTATATAAAAA AATATAAACTAGTTTAAAACTACATAAACTATATAGTTTTAAACTATATA GTTTAAAACTACATGAACTATATAGTTTAAAACTACGTAGTTTAAAACTA TATAGTTTAAAACTACATAGTTTAAAACTATATAGTTTAAAACTACGTAG TTTAAAACTATATAGTTTAAAACTACGTAGTTTAAAACTATATAGTTTAA AACTACGTAGTTTAAAACTATATAGTTTAAAACTACGTAGTTTAAAACTA TATAGTTTAAAACTACATAAACTATATAGTTTAAAACTACATAAACTATA TAGTTTAAACTAGTTTAAAACTATATATAAACTAGTTTAAAACTATATAG TTTATATAGTTTAAAACTATATAGTTTAAACTATATAGTTTAAAACTATA TAAACTATATAGTTTAAAACTATATAAACTATATAGTTTAAACTATATAA ACTATATAGTTTTAAACTATATAAACTATATAGTTTAAAACTATATATAA ACTATATAGTTTAAAACTATATATAAACTATATAGTTTAAAACTATATAT AAACTATATAGTTTAAAACTATATAAACTATATAGTTTAAAACTATAAAC TATATAGTTTAAAA	NRDC	ENSG00000078618.23	transcript	ENST00000352171.12	protein_coding	1/30			chr1	TogoVar
NXN_chr17_794310_984776	952751	G G	GGGGGGGC others(633): Show GGGGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACG GACGGTCACACTGTGGGGGGTCTGGAGTCAGAGAGACCAAGGTTGGAACC CGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGA CCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGTC TGGAGTCAGAGAGACCAAGGTTGGAACCCGACAGGTACCACGGACGGTCA CACTGTGGGGGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGT ACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGACAGACCAAGGTT GGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCA GACAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGG GGGGGCTGGGGTCAGACAGACCAAGGTTGGAACCCGGCAGGTACCACGGA CGGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCC GGCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGAGTCAGACAGAC CAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0019 a0001c0001t0021g0019	1	154	0.0065	640	c.360 others(659): Show c.360+26567_360+26568insACAGTGTGACCGTCCGTGGTACCTGC CGGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCG TCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGCCCCC CCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGT CTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTC CAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGTGTGACCGTCCGTGG TACCTGCCGGGTTCCAACCTTGGTCTGTCTGACCCCAGCCCCCCCACAGT GTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACCCC AGCCCCCCCACAGTGTGACCGTCCGTGGTACCTGTCGGGTTCCAACCTTG GTCTCTCTGACTCCAGACCCCCCACAGTGTGACCGTCCGTGGTACCTGCC GGGTTCCAACCTTGGTCTGTCTGACTCCAGCCCCCCCACAGTGTGACCGT CCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAGACCCCC CACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTGTCT GACCCCAGCCCCCC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NYAP2_chr2_225394710_225708654	225574671	T T	TCATACTA others(633): Show TCATACTACATTTCTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTATTT TTTATTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGC AGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACT AATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCT CCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTTCCCTTCCTGTGTC CATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGT TTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTT CATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCAT AATATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATT GTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAAAATTTTCGC AACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCA AACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAG GACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0002 a0001c0013t0002	a0001c0013t0002g0188 a0001c0013t0002g0188	1	190	0.0053	640	c.524 others(657): Show c.524-7254_524-7253insTTTTTTTTTTTTTTTTTTTATTTTTTTT TATTTTTTATTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACAT TGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCAC CCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCC CCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTTCCCTTCCT GTGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGC GGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCC AATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGC TGCATAATATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTA TCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAAAATT TTCGCAACCTACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGA ACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGG CGAAGGACATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCATA CTACATTTCTTT	NYAP2	ENSG00000144460.13	transcript	ENST00000272907.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr2	TogoVar
PCED1A_chr20_2830314_2845655	2842829	T T	TATAGATG others(633): Show TATAGATGTATCTATCTATAGATAGACATATAGATGTATCTATCTATAGA TAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTATCTATC TATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGTA TCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATC TATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTA TCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGTATCTATC GATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGA TAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA GATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTA TCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATA GATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGA TAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGATG TATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	359	0.0028	640	c.-26 others(651): Show c.-2641_-2640insCTATCTATCGATAGATACATCTATCTATCTATCG ATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACAT CTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCT ATCTATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTAT CGATAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATAC ATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTAT CTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATCT GTCTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGT CTATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCT ATCGATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTAT CGATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCT ATCTATAGATAGATACATCTATATGTCTATCTATAGATAGATACATCTAT ATGTCTATCTATAGATAGATACATCTATATGTCTATCTATAGATAGATAC ATCTAT	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2175		chr20	TogoVar
PCED1A_chr20_2830314_2845655	2842844	C C	CTATAGAT others(633): Show CTATAGATAGACATATAGATGTATCTATCTATAGATAGACATATAGATGT ATCTATCTATAGATAGACATATAGATGTATCTATCTATAGATAGACATAT AGATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAG ATGTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGAT GTATCTATCGATAGACAGATAGATGTATCTATCGATAGACAGATAGATGT ATCTATCGATAGACAGATAGATGTATCTATCGATAGATAGATAGATGTAT CTATCGATAGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATGTATCTATCGATAGATAGATGTATCTATCGATAGATAGAT GTATCTATCGATAGATAGATGTATCTATCGATAGATAGATGTATCTATCG ATAGATAGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGAT AGATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAG ATAGATGTATCTATCGATAGATAGATAGATGTATCTATCGATAGATAGAT AGATGTATCTATCGATAGATAGATAGATGTATCTATCGATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	182	0.0055	640	c.-26 others(651): Show c.-2656_-2655insTATCGATAGATACATCTATCTATCTATCGATAGA TACATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATA CATCTATCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACA TCTATCTATCGATAGATACATCTATCTATCTATCGATAGATACATCTATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCGA TAGATACATCTATCTATCGATAGATACATCTATCTATCGATAGATACATC TATCTATCGATAGATACATCTATCTATCGATAGATACATCTATCTATCTA TCGATAGATACATCTATCTATCTATCGATAGATACATCTATCTGTCTATC GATAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGA TAGATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATA GATACATCTATCTGTCTATCGATAGATACATCTATCTGTCTATCGATAGA TACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTATCTATA GATAGATACATCTATATGTCTATCTATAGATAGATACATCTATATGTCTA TCTATA	PCED1A	ENSG00000132635.17	transcript	ENST00000360652.7	protein_coding		2190		chr20	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(633): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGG GGTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGC CTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCA GCCGCCCCGTCTGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	161	0.0062	640	c.537 others(657): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTCC CAGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGG CGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGGC GGGGGGGCTGACCCCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCG GCTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(633): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGG GTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	161	0.0062	640	c.537 others(657): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCG GCTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(633): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGT CCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGG AGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTC AGCCCCCCGCCTGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGG GTCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	161	0.0062	640	c.537 others(657): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCCACCTCCC TCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCACCTCCCTC CCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGG GCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGGG CGGGGGGGCTGACCCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGGC CAGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCC GGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCC CCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCG GCTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKA1_chrX_72573814_72719306	72681736	C C	CCGCCCAG others(633): Show CCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGC CGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTC CGGGAGGGAGGTGGGGGGGTCGGCCCCCTGCCCGGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCCGGCCAGCCGCCCCGTC CGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGA GCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCA GCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTTGGGGGGGGGG TCAGCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCT CTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCGGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGTCGGCCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	161	0.0062	640	c.537 others(657): Show c.537+2761_537+2762insAGGGGGGCCGACCCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGGCCGACCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCCCCCACCTCCCT CCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGG GGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTGGCTGG GCGGGGGGGCTGACCCCCCCCCCAACCTCCCTCCCGGACGGGGCGGCTGG CCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGC CGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGC CCCTCACCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCC CCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCGACCCCC CCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCCGACCCCCC CACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTT CCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCG GCTGGCTGGGCG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PITPNM3_chr17_6446263_6561555	6560549	C C	CAAGGGAG others(633): Show CAAGGGAGGCCGGAGACGGAGAAGAGGAAGAGAACGGCGACGACGGAAGA GGTGGAAGCAGAAGAAGAATAGCGCGAGCCGCTCAGCTGTGCCTCCTGGT GGGGGGAGCGGAAGAAGAAGAAGGAGAAGAAGAAGGAGATGGAGAAGACG GAGAAGAAGAGAAGAAGAAGGGACGATGGAGAACTTCTCCTCTTCCTCTT CCGCCGGAGCCTCTTCTCTCCGGGACGCAGGAGTCAAGAGGAAGACGAAG AAGAAAAGACGAGGACGAAGGAGATGAAGCAAGCAAGACGAGGACGAGGG GCGAAGAAGCCAAGAGGACGAAGAGGCAGAGCCTCGGCTCCTCCTCAGAC GGCCTGCCTCTCCCTCCTCTTCCCTCTTCTCCCCTCCTCCTAAGGCCGTT CTCCCCTCCTCCTCTTCCTCATCCTCCTCCCCTCCTCTTCCTCCTTCTCA TCCTCCGTCCCTCTTCCTCCTTCTCCCCCCTCCTTCCCTCCTCTTCCTCC TTCTCCTCCTCCTCCCCCCTTCCTCCTCTTCCTCCTCCCCTCCCCCTCCT CTTCCTCCTCCTCTCCCTTCCTCTTCCCCTTCCTCCTTCCCCTCTTCCTT CTCCCCTCCTCCTCCTCTTCCTCCTCCTTCTCCCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0033 a0001c0007t0004g0033	1	216	0.0046	640	c.-41 others(651): Show c.-4144_-4143insAGAAGAAGGGAGAAGGAGGAGGAAGAGGAGGAGG AGGGGAGAAGGAAGAGGGGAAGGAGGAAGGGGAAGAGGAAGGGAGAGGAG GAGGAAGAGGAGGGGGAGGGGAGGAGGAAGAGGAGGAAGGGGGGAGGAGG AGGAGAAGGAGGAAGAGGAGGGAAGGAGGGGGGAGAAGGAGGAAGAGGGA CGGAGGATGAGAAGGAGGAAGAGGAGGGGAGGAGGATGAGGAAGAGGAGG AGGGGAGAACGGCCTTAGGAGGAGGGGAGAAGAGGGAAGAGGAGGGAGAG GCAGGCCGTCTGAGGAGGAGCCGAGGCTCTGCCTCTTCGTCCTCTTGGCT TCTTCGCCCCTCGTCCTCGTCTTGCTTGCTTCATCTCCTTCGTCCTCGTC TTTTCTTCTTCGTCTTCCTCTTGACTCCTGCGTCCCGGAGAGAAGAGGCT CCGGCGGAAGAGGAAGAGGAGAAGTTCTCCATCGTCCCTTCTTCTTCTCT TCTTCTCCGTCTTCTCCATCTCCTTCTTCTTCTCCTTCTTCTTCTTCCGC TCCCCCCACCAGGAGGCACAGCTGAGCGGCTCGCGCTATTCTTCTTCTGC TTCCACCTCTTCCGTCGTCGCCGTTCTCTTCCTCTTCTCCGTCTCCGGCC TCCCTT	PITPNM3	ENSG00000091622.16	transcript	ENST00000262483.13	protein_coding		3995		chr17	TogoVar
PLEKHG4B_chr5_87168_194966	92369	G G	GGCGCGGG others(633): Show GGCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGG GGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGG GCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGG CGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAGTAGGGGC GGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGG GGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGG GTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGACGCGGGAG TAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTA GGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGAC GCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGCG GGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0012 a0012	a0012c0067 a0012c0067	a0012c0067t0042 a0012c0067t0042	a0012c0067t0042g0185 a0012c0067t0042g0185	1	2	0.5000	640	c.45+ others(651): Show c.45+94_45+95insCGCGGGGGTAGGGGCGGGGTGGGGGCGCGGGGGT AGGGGTGGGGTGGGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTA GGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGAGTA GGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGAGCGGAC GCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTGGGGGCGC GGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGC CGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCG AGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGGGCGGGTG GGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGTGGGGTG GGGGCGCCGGAGTAGGGGCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGG GGGCGCGAGCGGACGCGGGAGTAGGGGCGGGTGGGGGCGCCGGGGTAGGG GCGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCCGGGGTAGGGG CGGGTGGGGGCGCGGGGGTAGGGGTGGGGTGGGGGCGCGGGGGTAGGGGT GGGGTG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
POU2F3_chr11_120235140_120324945	120267745	A A	AAAAAAAA others(633): Show AAAAAAAAATGGGTGTCACTGTCCAGCTCTCAAGGAATTCATAGACTAGC AGAAGAGGGAAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAAC CAGCAGAGAGGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGC GAGGGAGCAGTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATG CAAGTGAGTACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGT AAGGTAGGATTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAG GACATGTGGGGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAA GCTATTTTGAGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTAT TTTGAGCTCCTACTATATATATATATATGTGTATATATATATATGTATAT ATATATATATGTGTATATATATATATGTATATATATATATATATTATATA TGCATATTATGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAA TTCTGTTAGACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTA TCCATGTTAGGAACTGTGGTCATTTTGTGGCCACTGAGGAC	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp1 HG02257.hp1 others(4): Show HG01884.hp1 HG02145.hp1 HG02257.hp1 HG02896.hp1 HG03516.hp1 HG03579.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0244 a0001c0001t0003g0287 a0001c0001t0005g0235 others(4): Show a0001c0001t0001g0244 a0001c0001t0003g0287 a0001c0001t0005g0235 a0001c0001t0005g0236 a0001c0001t0005g0238 a0001c0001t0008g0202 a0001c0001t0008g0234	7	69	0.1014	640	c.98- others(655): Show c.98-1437_98-1436insTCAAGGAATTCATAGACTAGCAGAAGAGGG AAACATACAAAGAGGGAGTGACACAATGAGTGCCACGCAACCAGCAGAGA GGCCTCCCGGATTCCAGAGGGGAGAGGGACTAACTCCATGCGAGGGAGCA GTGCACGGAGGCACGGTAACGTGAGCGTGTGTGTTAGGATGCAAGTGAGT ACTTTGTGTGGCTGGAGCTCAGGGTACCTGGGAGAAAAAGTAAGGTAGGA TTGTGAGTGGCATAAGAGCAGAAAAGGTAGGCAGGAGACAGGACATGTGG GGAATTCCATGTTGTGTCAAGGAATCTGACTTTATTCCAAAGCTATTTTG AGAGTTTTGAATTTGTTTACTCATGCATTCAACCAATGTATTTTGAGCTC CTACTATATATATATATATGTGTATATATATATATGTATATATATATATA TGTGTATATATATATATGTATATATATATATATATTATATATGCATATTA TGTTTAGGACACAGCTGAGGAAAAGGGGTTAAAACAGGGAATTCTGTTAG ACCCCATTCATTCATCTCTCAGGTGTTTCTTGAGCCTCTTATCCATGTTA GGAACTGTGGTCATTTTGTGGCCACTGAGGACAAAAAAAATGGGTGTCAC TGTCCAGCTC	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PRDM16_chr1_3064203_3443621	3181360	G G	GCAGTCTT others(633): Show GCAGTCTTACGGTCTTACACACGGTCTTACACACACGGTCTTACACACAG TCTTACACACGCAGTCTTACACACGCAGTCTTACACAAGCAGTCTTACAC ACGCGGTCTTACACAAGCAGTCTTACGGTCTTACACACAGTCTTACACAT GGCCTTACGCATGGTCTTACACACGCAGTCTTACACAAGCGGTCTTACAC AAGCGGTCTTACACACGGTCTTACACACGGTCTTACACAGTCTTACACAT GCAGTCTTACACACGGTCTTACATATGGTCTTACACATGCAGTCTTACAC ACGGTCTTACACATGCAGTCTTACACACGGTCTTACACACGGTCTTACAC AGTCTTACACGCGCAGTCTTACACACGGTCTTACACACGGTCTTACACAC GCAGTCTTACACACGGTCTTACACACGGAGTCTTACACACGGAGTCTTAC ACACAGTCTTACACATGCAGTCTTACACACGCAGTCTTACACACGCAGTC TTACACGCGGCCTTACACACGCAGTCTTACACGCGGTCTTACACACGCAG TCTTACACGCGGTCTTACGGTCTTACACACGCAGTCTTATGGTCTTACAC ACGGTCTTACACACGCAGTCTTACACACGGTCTTACACACA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0001 a0003c0011t0001	a0003c0011t0001g0185 a0003c0011t0001g0185	1	86	0.0116	640	c.38- others(655): Show c.38-4765_38-4764insCAGTCTTACGGTCTTACACACGGTCTTACA CACACGGTCTTACACACAGTCTTACACACGCAGTCTTACACACGCAGTCT TACACAAGCAGTCTTACACACGCGGTCTTACACAAGCAGTCTTACGGTCT TACACACAGTCTTACACATGGCCTTACGCATGGTCTTACACACGCAGTCT TACACAAGCGGTCTTACACAAGCGGTCTTACACACGGTCTTACACACGGT CTTACACAGTCTTACACATGCAGTCTTACACACGGTCTTACATATGGTCT TACACATGCAGTCTTACACACGGTCTTACACATGCAGTCTTACACACGGT CTTACACACGGTCTTACACAGTCTTACACGCGCAGTCTTACACACGGTCT TACACACGGTCTTACACACGCAGTCTTACACACGGTCTTACACACGGAGT CTTACACACGGAGTCTTACACACAGTCTTACACATGCAGTCTTACACACG CAGTCTTACACACGCAGTCTTACACGCGGCCTTACACACGCAGTCTTACA CGCGGTCTTACACACGCAGTCTTACACGCGGTCTTACGGTCTTACACACG CAGTCTTATGGTCTTACACACGGTCTTACACACGCAGTCTTACACACGGT CTTACACACA	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	1/16			chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(633): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCT CTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCT CCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCT CCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCC CTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCC TCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTC TCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCT CTCCTCTCTCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCC CTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCC CTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCT CTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0172 a0003c0005t0001g0172	1	62	0.0161	640	c.439 others(659): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCCCCTCTCTCCCCCTCCCTCTCTCCCC CACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCT CCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTC CCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCT TCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTC CCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCT TCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCT CATCCCCTTCCTCTTTCTCTCCTCTCTCTTCCCCTCCCTCCCTCTCTCCT CCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTC TCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCT CCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTC TCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(633): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCT CTCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTC CCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTC CCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCC TCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCT CCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCT CTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTC TCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCC CTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCC CTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCT CTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0152 a0001c0002t0005g0152	1	62	0.0161	640	c.439 others(659): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCCCCTCTCTCCCCCTCCCTCTCTCCCC CACCTCCCCCCTCCCTCTCTCCCCTCCTTCTCTCTTCCCCTCCTTCTCTC CCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCC CCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTT CCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCC CTCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTT CTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTC ATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCT CCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTC TCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCT CCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTC TCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(633): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTCTC TCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCCTC CCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCCTC CCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTCTCCCTCCC TCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCCT CCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTCT CTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTTCCTCTTTCTC TCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCTCCTCCCTCTGTCCCGTCC CTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTCTCCC CTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCT CTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG02970.hp1 HG01123.hp2 HG02970.hp1	a0001 a0002 a0001 a0002	a0001c0004 a0002c0003 a0001c0004 a0002c0003	a0001c0004t0007 a0002c0003t0004 a0001c0004t0007 a0002c0003t0004	a0001c0004t0007g0038 a0002c0003t0004g0068 a0001c0004t0007g0038 a0002c0003t0004g0068	2	63	0.0317	640	c.439 others(659): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCCCTCTCTCCCCCTCCCTCTCTCCCCC ACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTC CCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCC CCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCCTT CCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCC CTCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTT CTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTC ATCCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCT CCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCCCGTCCCTCTC TCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCT CCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTC TCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM16_chr1_3064203_3443621	3351524	G G	GTCTCTCC others(633): Show GTCTCTCCCCTCCTCTCTCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCC TCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTC TCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCACCTCCCCCCTCCCTC TCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTCTCCCCTCCCTCTCTCCCC TCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCTCCCCTTCCCTCTCTCCCC TCCCTCTCTGTCCCCCTCCCCTCTCATCCCCTTCCTCTTTCTCTCCCTCC CTCTCCTTCCCCTCCCTCCCACTCTCCCCCTCCCTCTCTCCCCCTTTCCC TCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCTTCTCTCTCCCCCTTCCTC TCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCTCATCCCTTCCTCTTTCTC TCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCCCCTCCCTCTGTCCCGTCC CTCTCTCCCCCTCCCTCTGTCCCATCCCTCTCTCCCCCTCCCTCTCTCCC CTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCT CTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0009 a0009	a0009c0028 a0009c0028	a0009c0028t0015 a0009c0028t0015	a0009c0028t0015g0209 a0009c0028t0015g0209	1	62	0.0161	640	c.439 others(659): Show c.439-33623_439-33622insCCCCTCCTCTCTCCCCTCCCTCTCTC CCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCC TCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCCCCTCCCTCTCTCCC CCACCTCCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTTCCCCTCCTTCTC TCCCCTCCCTCTCTCCCCTCCCTCTTTCCCCCCTCCCCCTCCTTCTCTCT CCCCTTCCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCCTCTCATCCCCT TCCTCTTTCTCTCCCTCCCTCTCCTTCCCCTCCCTCCCACTCTCCCCCTC CCTCTCTCCCCCTTTCCCTCCCTCTCTCCCCTTCTCTCTCTTCTGCTCCT TCTCTCTCCCCCTTCCTCTCTCCCCTCCCTCTCTGTCCCCCTCCCTCTCT CATCCCTTCCTCTTTCTCTCCCTCTCTCTTCCCCTCCCTCCCTCTCTCCC CCTCCCTCTGTCCCGTCCCTCTCTCCCCCTCCCTCTGTCCCATCCCTCTC TCCCCCTCCCTCTCTCCCCTCCCTCTCCTCCCTCTTCCCTCTCTCCCCCT CCCTCTCTCCCCCTCCCTCTCTCCCCCTCCTTCTCTCTCCCCTCCCTCTC TCCCCTCCCTCTCT	PRDM16	ENSG00000142611.17	transcript	ENST00000270722.10	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTDSS2_chr11_445279_496399	459097	G G	GACACTCC others(633): Show GACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGTAGGACCTGGGTTA GACGTGAGGGGACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGAATGTAGGACCTGGGTTAGACGTGAGGGGACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGA CACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGG TGAATGTAGGACCTGGGTTAGACGTGAGGGGACACTCCGGTGGATGTCGG ACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTA GACGTGAGGACACACTCCGGTGAATGTAGGACCTGGGTTAGACGTGAGGG GACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGAC	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	179	0.0056	640	c.183 others(655): Show c.183-959_183-958insAATGTAGGACCTGGGTTAGACGTGAGGGGA CACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTG GATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGTAGGAC CTGGGTTAGACGTGAGGGGACACTCCGGTGGATGTCGGACCTGGGTTAGA CGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACA CACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTG GATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGAATGTAGGAC CTGGGTTAGACGTGAGGGGACACTCCGGTGGATGTCGGACCTGGGTTAGA CGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACA CACTCCGGTGAATGTAGGACCTGGGTTAGACGTGAGGGGACACTCCGGTG GATGTCGGACCTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGAC CTGGGTTAGACGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGA CGTGAGGACACACTCCGGTGGATGTCGGACCTGGGTTAGACGTGAGGACA CACTCCGGTG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
RASA3_chr13_113972783_114137623	114080987	T T	TCGGCAGA others(633): Show TCGGCAGAGGGCCGTACACCTAGAACACCAAGAGTGCCCCACGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACC TAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCA ATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCC ACGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCCTCGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCACGGCAGAGGGCCGTCCACC TAGAACACCAAGAGTGCCCCACGGCAGAGGGCCGTCCACCTAGAACACCA AGAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCC ACGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGG GCCGTCCACCTAGAACACCAAGAGTGCCCCTCGGCAGAGGGCCGTCCACC TAGAACACCAATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCA ATAGTGCCCCTCGGCAGAGGGCCGTCCACCTAGAACACCAATAGTGCCCC ACGGCAGAGGGCCGTCCACCTAGAACACCAAGAGTGCCCCA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0009 a0002c0004t0009	a0002c0004t0009g0011 a0002c0004t0009g0011	1	55	0.0182	640	c.56- others(655): Show c.56-7151_56-7150insTGGGGCACTCTTGGTGTTCTAGGTGGACGG CCCTCTGCCGTGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCG AGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTA TTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCT AGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCTAGGTGGACGG CCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCG AGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCGTGGGGCACTC TTGGTGTTCTAGGTGGACGGCCCTCTGCCGTGGGGCACTCTTGGTGTTCT AGGTGGACGGCCCTCTGCCGAGGGGCACTATTGGTGTTCTAGGTGGACGG CCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGGACGGCCCTCTGCCG AGGGGCACTATTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTC TTGGTGTTCTAGGTGGACGGCCCTCTGCCGAGGGGCACTCTTGGTGTTCT AGGTGGACGGCCCTCTGCCGTGGGGCACTCTTGGTGTTCTAGGTGTACGG CCCTCTGCCG	RASA3	ENSG00000185989.11	transcript	ENST00000334062.8	protein_coding	1/23			chr13	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(633): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCGGGCCAGCCGCCCCGTCCCGGAGGGAGGCGCGGGGGGGGGTCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp2 HG02257.hp1 others(1): Show HG01167.hp1 HG02109.hp2 HG02257.hp1 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0005 a0001c0004t0010 a0001c0004t0022 a0001c0002t0005 a0001c0004t0010 a0001c0004t0022	a0001c0002t0005g0132 a0001c0002t0005g0134 a0001c0004t0010g0119 others(1): Show a0001c0002t0005g0132 a0001c0002t0005g0134 a0001c0004t0010g0119 a0001c0004t0022g0120	4	8	0.5000	640	c.880 others(657): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCGGGACGGGG CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTC ACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RERE_chr1_8347404_8822640	8502129	T T	TGCCCGGC others(633): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCC GCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCG CCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGATCAGCCCCCCGC CTGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCTGCC CCTACTGGGAAGTGAGGACCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTGGGGGGGTCAGCCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGGGTCAGCCCCCGCACGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGATCAGCCCCCCGCCTGGCCAGCCGCCCCGTCTGGGAGGT GAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCT GCCGGGCCAGCCGCCCCGTCCGGGAGGGAGGCGCGGGGGGGGGTCGGCCA GCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0026 a0001c0005t0026	a0001c0005t0026g0127 a0001c0005t0026g0127	1	5	0.2000	640	c.880 others(657): Show c.880-4601_880-4600insGGGGGGCTGACCCCCCCCACCTCCCTCC CGGACGGGGCGGCTGGCCGACCCCCCCCCGCGCCTCCCTCCCGGACGGGG CGGCTGGCCCGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGC AGAGGCGCCCCTCACCTCCCAGACGGGGCGGCTGGCCAGGCGGGGGGCTG ATCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGCTGAC CCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGTGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGTCCTC ACTTCCCAGTAGGGGCAGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGG GGCGGCTGGCCAGGCGGGGGGCTGATCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCGGACGGG GCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGC	RERE	ENSG00000142599.20	transcript	ENST00000400908.7	protein_coding	8/22			chr1	TogoVar
RFC1_chr4_39282456_39371362	39348424	A A	AAAAAGAA others(633): Show AAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0203	1	81	0.0123	640	c.132 others(657): Show c.132+2923_132+2924insCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTTT	RFC1	ENSG00000035928.17	transcript	ENST00000349703.7	protein_coding	2/24			chr4	TogoVar
RPA3_chr7_7631518_7723607	7678884	T T	TATATTTA others(633): Show TATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATA AATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACAT ATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATATATTT ACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAATATAT ATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTATAAAT ATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGTTTAT AAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTTAGT TTATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATT TAGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTATTTAGTTTATAAATACATATTTACATATT TAGTTTATAAATACATATTTACATATTTAGTTTATAAATAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	304	0.0033	640	c.-75 others(659): Show c.-758+6945_-758+6946insGTATTTATAAACTAAATATGTAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAATA TATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTA AATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATA TGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTA AATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAA ACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATATATTT ATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAATATAT ATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGTAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGT AAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAAT ATGTAAATATATATTTATAAACTAAATATGTAAATATATATTTATAAACT AAATATGTAAATAT	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679116	G G	GTTTATAA others(633): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACA TATATTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATA AACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTT TATAAATATATATTTACATATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTT AGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTT AGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATAT ATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	278	0.0036	640	c.-75 others(659): Show c.-758+6713_-758+6714insTTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGT AAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATATGT AAATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAAT ATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATAAACT AAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATA AACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTT TATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATA TGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAA TATATGTTTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
RPA3_chr7_7631518_7723607	7679116	G G	GTTTATAA others(633): Show GTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTATATA TTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATATTTA TATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACATATA TTTATATATTTAGTTTATAAACATATATTTATATATTTAGTTTATAAACA TATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTTTATA AACATATATTTATATATTTAGTTTATAAATATATATTTATATATTTAGTT TATAAATATATATTTATATATTTAGTTTATAAATATATATTTACTTATTT AGTTTATAAATATATATTTATTTAGTTTATAAATATATATTTACATATTT AGTTTATAAATATATATTTATTTAGTTTATAAATACATATTTACATATTT AGTTTATAAATATTTACATATTTAGTTTATAAATACATATTTACATATTT AGTTTATAAATACATATTTACATATTTAGTTTATAAATACATATTTATAT ATTTAGTTTATAAATACATATTTATATATTTAGTTTATAAATATATATTT ATATATTTAATTTATAGATAAATATATATTTATATATTTAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	278	0.0036	640	c.-75 others(659): Show c.-758+6713_-758+6714insTTAAATATATAAATATATATTTATCT ATAAATTAAATATATAAATATATATTTATAAACTAAATATATAAATATGT ATTTATAAACTAAATATATAAATATGTATTTATAAACTAAATATGTAAAT ATGTATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATATGT AAATATTTATAAACTAAATATGTAAATATGTATTTATAAACTAAATAAAT ATATATTTATAAACTAAATATGTAAATATATATTTATAAACTAAATAAAT ATATATTTATAAACTAAATAAGTAAATATATATTTATAAACTAAATATAT AAATATATATTTATAAACTAAATATATAAATATATATTTATAAACTAAAT ATATAAATATATGTTTATAAACTAAATATATAAATATATATTTATAAACT AAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTTTATA AACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATATGTT TATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAATATA TGTTTATAAACTAAATATATAAATATATGTTTATAAACTAAATATATAAA TATATGTTTATAAA	RPA3	ENSG00000106399.11	transcript	ENST00000223129.8	protein_coding	4/7			chr7	TogoVar
SAMM50_chr22_43950442_44001529	43980136	A A	ACATCCAT others(633): Show ACATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCACTC ATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCAT CCGTCCATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCC ACCCATCCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCAT CCATCCACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACAC CCATCCATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCC ATCCATCCATCCACTCATCCATCCATCCATCTGTCCATCCACCCACCCAC ACACACACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCAT CCATCCATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCC ATCCATCCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCAC CCATCCATCCATCCATCCACCCACCCACCCACCCACCCATC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG03486.hp2 HG02257.hp1 HG02717.hp1 HG03486.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0036 a0001c0008t0001g0174 a0001c0008t0001g0176 a0001c0008t0001g0036 a0001c0008t0001g0174 a0001c0008t0001g0176	3	10	0.3000	640	c.937 others(657): Show c.937-1228_937-1227insCCATCCATCCATCCATCCACTCATCCAT CCATCCATCCATCCACTCATCCATCCATCCATCCATCCATCCATCCGTCC ATCCACCCACCCACACACACACCTATCCATCCATCCACCCATCCACCCAT CCACCCATCCACCCACCCATCCATCCATCCATCCGTCCGTCCATCCATCC ACCCATCCACCCATCCACCCATCCATCCATCCGTCCATCCATCCACCCAT CCACCCATCCACCCATCCACCCACCCACCTACCCACCCACACACCCATCC ATCCATCCATCCATCCATCCATCCATCCACTCATCCATCCATCCATCCAT CCATCCACTCATCCATCCATCCATCTGTCCATCCACCCACCCACACACAC ACCTATCCATCCATCCACCCATCAACCCATCCACCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCATTCATCCATCCATCCATCCATCC ATCTACCCATCCACCCACCCACCCACACACCTATCCATCCATCCATCCAT CCATCCATCCATCCATCCATCCATCCACCCACCCACCCACCCACCCATCC ATCCATCCATCCACCCACCCACCCACCCACCCATCCATCCATCCATCCAT CCATCCATCCAT	SAMM50	ENSG00000100347.15	transcript	ENST00000350028.5	protein_coding	10/14		INFO_REALIGN_3_PRIME	chr22	TogoVar
SATL1_chrX_85087284_85248779	85088046	G G	GTATTTAT others(633): Show GTATTTATACATATATGTATAAATACGTATTAATACATATATGTATAAAT ACGTATTAATACATATATGTATAAATACATACATATTTATACATATATGT ATACATACATATTTATACATATATATGTATAAATACATACATATTTATAC ATATATATGTATAAATACATACATATTTATACATATATATGTATAAATAC ATACATATTTATACATATATATGTATAAATACGTACATATTTATACATAT ATATGTATAAATACGTACATATTTATACATATATATGTATAAATACGTAC ATATTTATACATATATATGTATAAATACGTACATATTTATACATATATAT GTATAAATACGTACATATTTATACATATATATGTATAAATACGTACATAT TTATACATATATATGTATAAATACGTACATATTTATACATATATGTATAA ATACGTACATATTTATACATATATGTATAAATACATATACATATTTATAC ATATATGTATAAATACATATACATATTTATACATATATGTATAAATACAT ATACATATTTATACATATATGTATAAATACATATACATATATGTATAAAT ACATATACATATTTATACATATATGTATAAATACATATACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	196	0.0051	640	c.43 others(651): Show c.4344_*4345insTGTATATGTATTTATACATATATGTATAAATATG TATATGTATTTATACATATATGTATATGTATTTATACATATATGTATAAA TATGTATATGTATTTATACATATATGTATAAATATGTATATGTATTTATA CATATATGTATAAATATGTATATGTATTTATACATATATGTATAAATATG TACGTATTTATACATATATGTATAAATATGTACGTATTTATACATATATA TGTATAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTA TTTATACATATATATGTATAAATATGTACGTATTTATACATATATATGTA TAAATATGTACGTATTTATACATATATATGTATAAATATGTACGTATTTA TACATATATATGTATAAATATGTACGTATTTATACATATATATGTATAAA TATGTATGTATTTATACATATATATGTATAAATATGTATGTATTTATACA TATATATGTATAAATATGTATGTATTTATACATATATATGTATAAATATG TATGTATACATATATGTATAAATATGTATGTATTTATACATATATGTATT AATACGTATTTATACATATATGTATTAATACGTATTTATACATATATGTA TAAATA	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4237		chrX	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(633): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCACCCAGCCTTA TTTTATATTAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGTA ATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGC TGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATAT TAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCGG GAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGTG AGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTC CGTCTCAAAAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTG TTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTT CAATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCT GGCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCG GCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGG CTGGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	183	0.0055	640	c.684 others(655): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCG CGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCT GCCTCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTG GCTAATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAG GCTGGCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCA AAGTGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTT TTAATATAAAATAAGGCTGGGTGCAGTGACTCCCGCCTGTAATCCTAGCA CTTGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(633): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGT AATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAG CTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA TTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCGTCTCAAAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTG TTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTT CAATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCT GGCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCG GCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGG CTGGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02886.hp1 HG02630.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0340 a0001c0001t0002g0091 a0001c0001t0001g0340 a0001c0001t0002g0091	2	184	0.0109	640	c.684 others(655): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGG CTAATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGG CTGGCCTCCAGCTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAA AGTGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTT TTAATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCA CTTGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SCNN1A_chr12_6341847_6380563	6362935	G G	GGCCTCCC others(633): Show GGCCTCCCAAGTGCTAGGATTACAGGCGGGAGTCACTGCGCCCAGCCTTA TTTTATATTAAAAAAAAAAAATTGGGACGGGTGCGGTGGCTCACTCCTGT AATCGGGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAG TTGGAGGCCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATA TTAAAAATTAGCCAGGCATGGTGGTTCATGACTGTAATCCCAGCTAGTCG GGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGTGGAGGTTGCAGT GAGCTGAGATCGCGCCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACT CCGTCTCAAAAAAAAAAAAAAAAAAAATTAAGTTTCCTTTTTTTTGTTTG TTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGTT CAATCTCGGCTCACCGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTTCT GGCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGAGTGCCACCAAGCCCG GCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTACCATGTTGGCCAGG CTGGTCTCGAACTGCTGACCTCAGGTGATCCACCCGCCTCA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0013 a0013	a0013c0023 a0013c0023	a0013c0023t0003 a0013c0023t0003	a0013c0023t0003g0359 a0013c0023t0003g0359	1	183	0.0055	640	c.684 others(655): Show c.684+507_684+508insTGAGGCGGGTGGATCACCTGAGGTCAGCAG TTCGAGACCAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATA CAAAAATTAGCCGGGCTTGGTGGCACTCACCTGTAATCCCAGCTACTCGG GAAGCTGAGCCAGAAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCGGTG AGCCGAGATTGAACCACTGCATTCCAGCCTGGGCGACAGAGCAAGACTCC ATCTCAAAAAACAAACAAAAAAAAGGAAACTTAATTTTTTTTTTTTTTTT TTTTGAGACGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGC GATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTG CCTCAGCCTCCCGACTAGCTGGGATTACAGTCATGAACCACCATGCCTGG CTAATTTTTAATATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGG CTGGCCTCCAACTCCCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAA AGTGCCCGATTACAGGAGTGAGCCACCGCACCCGTCCCAATTTTTTTTTT TTAATATAAAATAAGGCTGGGCGCAGTGACTCCCGCCTGTAATCCTAGCA CTTGGGAGGC	SCNN1A	ENSG00000111319.13	transcript	ENST00000228916.7	protein_coding	3/12			chr12	TogoVar
SENP7_chr3_101319205_101518212	101439968	C C	CGGCCAGC others(633): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGGTTGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTCGGGGGGGTCAGCCCCCCCGCCCAGCCAGCTGCCCTGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGTCA GCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG01071.hp1 others(9): Show HG00140.hp2 HG00280.hp2 HG01071.hp1 HG01106.hp1 HG01516.hp1 HG01517.hp1 HG02886.hp2 HG02970.hp1 HG03098.hp1 HG03669.hp2 HG03710.hp1 NA20805.hp1	a0003 a0006 a0003 a0006	a0003c0004 a0006c0010 a0003c0004 a0006c0010	a0003c0004t0002 a0006c0010t0002 a0003c0004t0002 a0006c0010t0002	a0003c0004t0002g0092 a0003c0004t0002g0105 a0003c0004t0002g0106 others(9): Show a0003c0004t0002g0092 a0003c0004t0002g0105 a0003c0004t0002g0106 a0003c0004t0002g0107 a0003c0004t0002g0108 a0003c0004t0002g0110 a0003c0004t0002g0111 a0003c0004t0002g0113 a0003c0004t0002g0114 a0003c0004t0002g0115 a0006c0010t0002g0103 a0006c0010t0002g0104	12	214	0.0561	640	c.284 others(659): Show c.284+18986_284+18987insAGGCAGGGGGGCCGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTG GCTGGGCGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACAGGGCAGCTGGCTGGGCGGGGGGGCTG ACCCCCCCGACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCAA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SENP7_chr3_101319205_101518212	101439968	C C	CGGCCAGC others(633): Show CGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTG CCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGC CCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGG GAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGG AGGGAGGTGGGGGGTTTGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAG GGAGGTCGGGGGGGTCAGCCCCCCCGCCCAGCCAGCTGCCCTGTCCGGGA GGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCC TCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGGGGGTCA GCCCCCCCGCCCAGCCAGCCGCCCTGTCCGGGAGGTGAGGGGCGCCTCTG CCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGC CCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCC CCGTCCGGGAGGGAGGTGGGGGGGGGTCGGCCCCCCTGCCT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0098 a0003c0004t0002g0098	1	203	0.0049	640	c.284 others(659): Show c.284+18986_284+18987insAGGCAGGGGGGCCGACCCCCCCCCAC CTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACC TCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCA GTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACAGGGCGGCTG GCTGGGCGGGGGGGCTGACCCCCCCCCCCCACCTCCCTCCCGGACGGGGC GGCTGGCCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCA GAGGCGCCCCTCACCTCCCGGACAGGGCAGCTGGCTGGGCGGGGGGGCTG ACCCCCCCGACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCG ACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCCAA ACCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCT CACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACG GGGCGGCTGGCCGGGCAGGGGGGCCGACCCCCCCCCACCTCCCTCCCGGA CGGGGCGGCTGGCC	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	4/23			chr3	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(633): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCC CCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCC CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	40	0.0250	640	c.77- others(657): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCC CCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCC CTCCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCC CTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77276499_77505593	77356670	C C	CCCCCTCC others(633): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCT CCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCA TCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCTTCCC CCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0022 a0001c0001t0008g0022	1	40	0.0250	640	c.77- others(657): Show c.77-45374_77-45373insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCAC CCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCC CTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCC CTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(633): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCCC CCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCCCCTCCC CCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCTCCCCCC TCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCTCCCC CCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	45	0.0222	640	c.22+ others(657): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTCCCCCTCCCCTCCCCTCC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCTCCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTC CCCCCCCCACCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCCTCCCTATCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCCCCTCCCCTCC CCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCACCCCTTCCCCCT CCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCC CTCCCCCCCCACCCCTTCCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCC CTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77356670	C C	CCCCCTCC others(633): Show CCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTACCTCCTCCCCTC CCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTTCCCT CCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCACCCCTTC CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCCT CCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTC CCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCA TCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCCCTTCCC CCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCC CTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCCTCCCCA CCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0158 a0001c0001t0021g0158	1	45	0.0222	640	c.22+ others(657): Show c.22+36337_22+36338insTCCCCTCCCCTCCCCTCCCCTACCTCCT CCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCC TTCCCTCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCT CCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCACCCCTTCCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCTCCCCAC CCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCC CCCCCTCCCCTCCCCCCCCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTC CCCCTCCCCTTCCCCCTCCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCCTCCCC TCCCCATCCCCTCCCCTCCCCCCTCCCCACCCCCTCCCCTCCCCCCTCCC CTTCCCCCTCCCCCCTCCCCTTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCCCTCCCCACCCCTTCCCCCTCCCCCCTCCCCTCCCCCC TCCCCACCCCTTCCCCCTCCCCTCCCCCTCCCCTCCCCCTTTCCCTTCCC CTCCCCTCCCCC	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SHISAL1_chr22_44238665_44317951	44302613	T T	TAGCAGGG others(633): Show TAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGC AAAGGCCCTGGGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTG GGGTGGGTGCGGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGC GGTGAGGAGGCAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGG CAGCAGGGGCAAAGGCCCTGGGGTGGGTGCGGTGAGGAGGC	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 NA18998.hp2 HG03490.hp2 HG03492.hp1 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0046 a0001c0002t0002 a0001c0001t0046 a0001c0002t0002	a0001c0001t0046g0053 a0001c0002t0002g0009 a0001c0001t0046g0053 a0001c0002t0002g0009	3	123	0.0244	640	c.-32 others(657): Show c.-32-1637_-32-1636insGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTG CTGCCTCCTCACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTC ACCGCACCCACCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCA CCCCAGGGCCTTTGCCCCTGCTGCCTCCTCACCGCACCCACCCCAGGGCC TTTGCCCCTGCT	SHISAL1	ENSG00000138944.8	transcript	ENST00000381176.5	protein_coding	1/4			chr22	TogoVar

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