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
RBCK1_chr20_403299_437139	420669	A A	ACCCCATC others(180): Show ACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCATCCC CCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCC ATCCCATCCCCCACCCCCATCCCCCGTCCCCCCGTCCCCATCCCCCATCC CCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0259 a0001c0002t0009g0259	1	438	0.0023	187	c.757 others(202): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CCGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCA TCTCCTG	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11			chr20	TogoVar
RBCK1_chr20_403299_437139	420669	A A	ACCCCATC others(180): Show ACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCATCCC CCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTCCCCC ATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCATCCC CCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0242 a0001c0001t0003g0242	1	438	0.0023	187	c.757 others(202): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCAT CTCCTGT	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11			chr20	TogoVar
RCBTB2_chr13_48483963_48538080	48527371	T T	TATATATA others(180): Show TATATATATATATGATATATATATGATATATATATATGATATATATATAT ATGATATATATATGATATATATATATGATATATATATATGATATATATAT ATGATATATATATGATATATATATATGATATATATATATGATATATATAT ATGATATATATATGATATATATATGATATATATATATG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0027 a0001c0003t0003g0027	1	303	0.0033	187	c.-21 others(206): Show c.-218-2615_-218-2614insCATATATATATATCATATATATATCA TATATATATCATATATATATATCATATATATATATCATATATATATATCA TATATATATCATATATATATATCATATATATATATCATATATATATATCA TATATATATCATATATATATATATCATATATATATATCATATATATATCA TATATATATAT	RCBTB2	ENSG00000136161.13	transcript	ENST00000344532.8	protein_coding	1/14			chr13	TogoVar
REPS2_chrX_16941658_17158272	17050141	C C	CCTTCCTT others(180): Show CCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	50	0.0200	187	c.908 others(204): Show c.908-2238_908-2237insCCTTCCTTCCTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTT	REPS2	ENSG00000169891.18	transcript	ENST00000357277.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chrX	TogoVar
RIMOC1_chr5_41899344_41926636	41914502	A A	AAACAAAA others(180): Show AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAGAACAAAACAAAC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0038 a0001c0001t0006g0038	1	311	0.0032	187	c.601 others(204): Show c.601+2320_601+2321insACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACA AAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAAAACAGAACA AAACAAACA	RIMOC1	ENSG00000205765.10	transcript	ENST00000381647.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
RIOK2_chr5_97155867_97188247	97179996	T T	TATATATA others(180): Show TATATATATAATATATATAATATATATATAATATATATATATAAAATATA TATATATAATATATATAATATATATATATTATATATATATAAAATATATA TATAATATATATAATATATATATTATATATAATATATATATAATATATAT ATATATAATATATATAATATATATATAATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02965.hp2 HG03195.hp1 HG02572.hp1 HG02965.hp2 HG03195.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0028 a0003c0003t0005g0188 a0003c0003t0005g0191 a0003c0003t0005g0028 a0003c0003t0005g0188 a0003c0003t0005g0191	3	388	0.0077	187	c.67- others(200): Show c.67-804_67-803insTATATATATATTATATATATATTATATATATT ATATATATATATATTATATATATATTATATATAATATATATATTATATAT ATTATATATATATTTTATATATATATAATATATATATATTATATATATTA TATATATATATTTTATATATATATATTATATATATATTATATATATTATA TATAT	RIOK2	ENSG00000058729.11	transcript	ENST00000283109.8	protein_coding	1/9			chr5	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(180): Show ACTTCTTCTTCTTCTTCTTCTTCTTCCTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0123 a0001c0007t0001g0123	1	255	0.0039	187	c.48 others(198): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAG AAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RIPK4_chr21_41734373_41772052	41736022	A A	ACTTCTTC others(180): Show ACTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTTCTTCTTCTTCTTCTTCTTCTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0018 a0001c0002t0006g0018	1	255	0.0039	187	c.48 others(198): Show c.4815_*4816insAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAG	RIPK4	ENSG00000183421.12	transcript	ENST00000332512.8	protein_coding		3350		chr21	TogoVar
RIPOR3_chr20_50581108_50696542	50666183	A A	ATTTCTTT others(180): Show ATTTCTTTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTT TCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	145	0.0069	187	c.3+2 others(202): Show c.3+24942_3+24943insAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF139_chr8_124469880_124493618	124483113	A A	AATATATA others(180): Show AATATATATATTTAAATATATATATTAATATATATTTAAATTATATAATT TAAATATACATATTTAAAAATATATATATTTAAATATATATATTTTTAAT ATATATATTTTTAAATATATATATATTTATATATATATTTTTATATATAT ATATTTATATATATATTTTTAAATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0113 a0001c0002t0002g0113	1	6	0.1667	187	c.182 others(204): Show c.182-2703_182-2702insTATATATATTAATATATATTTAAATTAT ATAATTTAAATATACATATTTAAAAATATATATATTTAAATATATATATT TTTAATATATATATTTTTAAATATATATATATTTATATATATATTTTTAT ATATATATATTTATATATATATTTTTAAATATATATATATATTTATATAT ATATTTAAA	RNF139	ENSG00000170881.5	transcript	ENST00000303545.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr8	TogoVar
RNF213_chr17_80255852_80403794	80355488	A A	AGGAAGAA others(180): Show AGGAAGAAGCGGGGTGACCGGGAATGGGGGCTTACAGGGGGAAGAAGCGG GGTGGACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAGTGGGAAT GGGGGCTTACAGGGGAAGAAGCGGGGTGAGTGGGAATGGGGGCTTACAGG GGAAGAAGCGGGGTGGACGGGAATGGGGGCTTACAGGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0072 a0001c0072	a0001c0072t0001 a0001c0072t0001	a0001c0072t0001g0038 a0001c0072t0001g0038	1	247	0.0040	187	c.108 others(207): Show c.10862+949_10862+1135dupGGGGAAGAAGCGGGGTGGACGGGAA TGGGGGCTTATGGAGGAAGAAGCGGGGTGAGTGGGAATGGGGGCTTACAG GGGAAGAAGCGGGGTGAGTGGGAATGGGGGCTTACAGGGGAAGAAGCGGG GTGGACGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGACCGGGAAT GGGGGCTTACAG	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355506	C C	CGGGAATG others(180): Show CGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGC TTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTATGGAGGAAG AAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGA CGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0111 a0002c0002t0002g0111	1	262	0.0038	187	c.108 others(206): Show c.10862+945_10862+946insTGGAGGAAGAAGCGGGGTGAATGGGA ATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAATGGGGGCTTAT GGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGC GGGGTGGACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGA ATGGGGGCTTA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNF213_chr17_80255852_80403794	80355600	G G	GGGAAGAA others(180): Show GGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGAAGAAGCGGG GTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTGGACGGGAAT GGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGGGCTTACAGG GGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03540.hp1 NA20129.hp1 HG03453.hp1 HG03540.hp1 NA20129.hp1	a0008 a0081 a0084 a0008 a0081 a0084	a0008c0028 a0081c0116 a0084c0091 a0008c0028 a0081c0116 a0084c0091	a0008c0028t0009 a0081c0116t0009 a0084c0091t0009 a0008c0028t0009 a0081c0116t0009 a0084c0091t0009	a0008c0028t0009g0030 a0081c0116t0009g0238 a0084c0091t0009g0289 a0008c0028t0009g0030 a0081c0116t0009g0238 a0084c0091t0009g0289	3	181	0.0166	187	c.108 others(208): Show c.10862+1040_10862+1041insATGGGAATGGGGGCTTACAGGGGA AGAAGCGGGGTGAATGGGAATGGGGGCTTACAGGGGGAAGAAGCGGGGTG GACGGGAATGGGGGCTTATGGAGGAAGAAGCGGGGTGAATGGGAATGGGG GCTTACAGGGGGAAGAAGCGGGGTGAACGGGAATGGGGGCTTATGGAGGA AGAAGCGGGGTGA	RNF213	ENSG00000173821.20	transcript	ENST00000582970.6	protein_coding	36/67		INFO_REALIGN_3_PRIME	chr17	TogoVar
RNFT2_chr12_116733315_116858631	116733346	T T	TTAATTTT others(180): Show TTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG02257.hp1 HG02257.hp2 others(2): Show HG01891.hp2 HG02257.hp1 HG02257.hp2 HG02922.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0013	a0001c0001t0002 a0001c0002t0018 a0001c0002t0033 others(2): Show a0001c0001t0002 a0001c0002t0018 a0001c0002t0033 a0001c0009t0010 a0001c0013t0013	a0001c0001t0002g0032 a0001c0002t0018g0022 a0001c0002t0033g0150 others(2): Show a0001c0001t0002g0032 a0001c0002t0018g0022 a0001c0002t0033g0150 a0001c0009t0010g0049 a0001c0013t0013g0046	5	241	0.0207	187	c.-51 others(198): Show c.-5178_-5177insTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC GCAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGC	RNFT2	ENSG00000135119.15	transcript	ENST00000257575.9	protein_coding		4968		chr12	TogoVar
RPH3AL_chr17_207389_357807	234080	C C	CGAGCAGG others(180): Show CGAGCAGGGAGCGGCTACTTCCCCTGACCAACTTCCCTGAGCAGGGAGCG GCTACTTACCCTGACCAACTTCCCCGAGCAGGGAGCGGCTACTTCCCCTG ACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTGACCAACTTTCCCC CAAGCGGGGAGCGGCTACTTACCCTGACCAACTTCCCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01192.hp1 HG01361.hp2 others(1): Show HG01070.hp1 HG01192.hp1 HG01361.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013	a0001c0001t0002g0010 a0001c0001t0002g0061 a0001c0001t0008g0130 others(1): Show a0001c0001t0002g0010 a0001c0001t0002g0061 a0001c0001t0008g0130 a0001c0001t0013g0107	4	102	0.0392	187	c.613 others(206): Show c.613+13030_613+13031insAGGGAAGTTGGTCAGGGTAAGTAGCC GCTCCCCGCTTGGGGGAAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTC AGGGAAGTTGGTCAGGGGAAGTAGCCGCTCCCTGCTCGGGGAAGTTGGTC AGGGTAAGTAGCCGCTCCCTGCTCAGGGAAGTTGGTCAGGGGAAGTAGCC GCTCCCTGCTC	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	234194	G G	GCAGGGAG others(180): Show GCAGGGAGCGGCTACTTACCCTGACCAACTTTCCCCCAAGCGGGGAGCGG CTACTTACCCTGACCAACTTCCCTGAGCAGGGAGCGGCTACTTACCCTGA CCAACTTCCCCGAGCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCGA GCAGGGAGCGGCTACTTACCCTGACCAACTTCCCCGAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	132	0.0076	187	c.613 others(206): Show c.613+12916_613+12917insTTCGGGGAAGTTGGTCAGGGTAAGTA GCCGCTCCCTGCTCGGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCT CGGGGAAGTTGGTCAGGGTAAGTAGCCGCTCCCTGCTCAGGGAAGTTGGT CAGGGTAAGTAGCCGCTCCCCGCTTGGGGGAAAGTTGGTCAGGGTAAGTA GCCGCTCCCTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	7/9			chr17	TogoVar
RREB1_chr6_7102961_7256980	7103356	C C	CATATAAT others(180): Show CATATAATATATAATATTATATGTTAATTAACATATAATATATAATATTA TATATAATATAATATATAATATTATATATAATATAATATATATAATATAT AATATTATATATAATATAATATATATAATATATAATATTATATATAATAT AATATATATAATATATAATATTATATATAATATAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02647.hp1 HG02630.hp1 HG02647.hp1	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0013 a0005c0003t0013	a0005c0003t0013g0172 a0005c0003t0013g0173 a0005c0003t0013g0172 a0005c0003t0013g0173	2	207	0.0097	187	c.-49 others(198): Show c.-4989_-4988insATATAATATATAATATTATATGTTAATTAACATA TAATATATAATATTATATATAATATAATATATAATATTATATATAATATA ATATATATAATATATAATATTATATATAATATAATATATATAATATATAA TATTATATATAATATAATATATATAATATATAATATTATATATAATATAA TAT	RREB1	ENSG00000124782.21	transcript	ENST00000379938.7	protein_coding		4604		chr6	TogoVar
RTN1_chr14_59590983_59875776	59750567	T T	TATAATAT others(180): Show TATAATATATCTATAATATATATATTATATATATAATATATAATATATTA TATATATAATATATAATATATTATATCTATAATATATTATATGTAATATA TATATGTTATATCTATAATATATATTATATCTATAATATATAATATATTA TATCTATAATATATAATATATTATATCTATAATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	123	0.0081	187	c.242 others(204): Show c.242-4087_242-4086insTATATATTATAGATATAATATATTATAT ATTATAGATATAATATATTATATATTATAGATATAATATATATTATAGAT ATAACATATATATATTACATATAATATATTATAGATATAATATATTATAT ATTATATATATAATATATTATATATTATATATATAATATATATATTATAG ATATATTAT	RTN1	ENSG00000139970.18	transcript	ENST00000267484.10	protein_coding	1/8			chr14	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(180): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCC CCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCC CCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	219	0.0046	187	c.-58 others(194): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCG CCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCCG CCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUFY1_chr5_179545554_179615012	179550512	T T	TGCCCGCC others(180): Show TGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCG CGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCC CCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCC CCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	219	0.0046	187	c.-58 others(194): Show c.-58_-57insGCCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCG CCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCGCCCGCCCG CCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCGCCCCCACCCCGCG CCCGCCCGCCCCCACCCCGCGCCCGCCCGCCCGCCCCCACCCCGCGCCC	RUFY1	ENSG00000176783.15	transcript	ENST00000319449.9	protein_coding		41		chr5	TogoVar
RUNX1_chr21_34782801_35054302	34849315	T T	TATATAGT others(180): Show TATATAGTATATATACTATATTATATATAGTATATATACTATATTATATA TAGTATATATACTATATTATATATAGTATATATACTATAGTATATATACT ATATATAATATAGTATATATACTATATATAATATATAGTATATATAATAT ATTATATATAGTATATATTATATATAGTATAATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01099.hp1 HG01981.hp2 others(5): Show HG00621.hp1 HG01099.hp1 HG01981.hp2 HG02132.hp2 HG02735.hp1 HG03239.hp1 NA18747.hp1 NA18957.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0057 others(5): Show a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0001g0091 a0001c0001t0001g0152 a0001c0001t0002g0046 a0001c0001t0002g0080 a0001c0001t0002g0158	8	161	0.0497	187	c.613 others(206): Show c.613+10158_613+10159insTATATATTATACTATATATAATATAT ACTATATATAATATATTATATATACTATATATTATATATAGTATATATAC TATATTATATATAGTATATATACTATAGTATATATACTATATATAATATA GTATATATACTATATATAATATAGTATATATACTATATATAATATAGTAT ATATACTATAT	RUNX1	ENSG00000159216.19	transcript	ENST00000675419.1	protein_coding	6/8			chr21	TogoVar
S1PR4_chr19_3173769_3185332	3182063	G G	GTTTTTTT others(180): Show GTTTTTTTCTTCCTCTTTCTCTTTTCTCTCTGCCTCTTCTCTTATTACTG TCTCTCTCTCTTCCTCCTGAGTTTGATCATTTCCTTTCTTCCTCTCTTCT TTCTGATTCTCCTTTCTTGTATTTCTCTCTCTTCTCTTCCCCTTTTTATG CTCCTATCTCCTCTTCCCTCTCTTTCTCTTGCTTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	416	0.0024	187	c.21 others(198): Show c.2116_*2117insTTTTTTTCTTCCTCTTTCTCTTTTCTCTCTGCCT CTTCTCTTATTACTGTCTCTCTCTCTTCCTCCTGAGTTTGATCATTTCCT TTCTTCCTCTCTTCTTTCTGATTCTCCTTTCTTGTATTTCTCTCTCTTCT CTTCCCCTTTTTATGCTCCTATCTCCTCTTCCCTCTCTTTCTCTTGCTTT TCT	S1PR4	ENSG00000125910.6	transcript	ENST00000246115.5	protein_coding		1732		chr19	TogoVar
SCGB2A2_chr11_62265158_62278160	62277913	T T	TCCCTCTC others(180): Show TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	384	0.0026	187	c.49 others(198): Show c.4918_*4919insCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCT CCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCC CTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT CTC	SCGB2A2	ENSG00000110484.7	transcript	ENST00000227918.3	protein_coding		4754		chr11	TogoVar
SEL1L2_chr20_13844247_13995614	13934358	C C	CATATATA others(180): Show CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATTCCATATATATATATATTCCATATATATATATATTC CATATATATATATATTCCATATATATATATATTCCATATATATATATATT CCATATATATATATATTCCATATATATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	166	0.0060	187	c.115 others(204): Show c.115-2588_115-2587insATGGAATATATATATATATGGAATATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATATGGAATATATATATATATGGAATATATATATATATGGAATAT ATATATATGGAATATATATATATATGGAATATATATATATATGGAATATA TATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SGCZ_chr8_14079845_15243431	14101375	T T	TAGAAAAT others(180): Show TAGAAAATTGGGGAGAGGTTATCTGAGGTTATCTGAAGAAATAATGGGAA TTTCCAGAATTGGTAAAAATGTGATTCTGCAGATAACAATAATCATGTAT ACTTATCACTTTATAGTGGAAAAATAGAACATCAATGACAAAGTATTATT TAAAGCAGACAGCAGGAGAAAAAATAAATGATGTCTGC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00738.hp2 HG01074.hp1 others(14): Show HG00438.hp2 HG00738.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01975.hp1 HG01978.hp2 HG01993.hp1 HG01993.hp2 HG02451.hp2 HG03704.hp1 NA18951.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0024 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0076 a0001c0001t0077 a0001c0001t0084	a0001c0001t0001g0092 a0001c0001t0002g0079 a0001c0001t0002g0095 others(14): Show a0001c0001t0001g0092 a0001c0001t0002g0079 a0001c0001t0002g0095 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0005g0072 a0001c0001t0005g0090 a0001c0001t0006g0091 a0001c0001t0024g0031 a0001c0001t0030g0034 a0001c0001t0032g0016 a0001c0001t0034g0030 a0001c0001t0035g0014 a0001c0001t0036g0012 a0001c0001t0076g0073 a0001c0001t0077g0065 a0001c0001t0084g0101	17	102	0.1667	187	c.744 others(204): Show c.744+1000_744+1001insGCAGACATCATTTATTTTTTCTCCTGCT GTCTGCTTTAAATAATACTTTGTCATTGATGTTCTATTTTTCCACTATAA AGTGATAAGTATACATGATTATTGTTATCTGCAGAATCACATTTTTACCA ATTCTGGAAATTCCCATTATTTCTTCAGATAACCTCAGATAACCTCTCCC CAATTTTCT	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	7/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14101376	G G	GGAAAATT others(180): Show GGAAAATTGGGGAGAGGTTATCTGAGGTTATCTGAAGAAATAATGGGAAT TTCCAGAATTGGTAAAAATGTGATTCTGCAGATAACAATAATCATGTATA CTTATCACTTTATAGTGGAAAAATAGAACATCAATGACAAAGTATTATTT AAAGCAGACAGCAGGAGAAAAAATAAATGATGTCTGCA	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02486.hp1 HG02135.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0081 a0001c0001t0078 a0001c0001t0081	a0001c0001t0078g0093 a0001c0001t0081g0085 a0001c0001t0078g0093 a0001c0001t0081g0085	2	30	0.0667	187	c.744 others(202): Show c.744+813_744+999dupTGCAGACATCATTTATTTTTTCTCCTGCTG TCTGCTTTAAATAATACTTTGTCATTGATGTTCTATTTTTCCACTATAAA GTGATAAGTATACATGATTATTGTTATCTGCAGAATCACATTTTTACCAA TTCTGGAAATTCCCATTATTTCTTCAGATAACCTCAGATAACCTCTCCCC AATTTTC	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	7/7			chr8	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(180): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0006	a0002c0005t0006g0098 a0002c0005t0006g0098	1	76	0.0132	187	c.691 others(206): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(180): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA19043.hp1 HG02976.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0031 a0001c0002t0082 a0001c0001t0031 a0001c0002t0082	a0001c0001t0031g0059 a0001c0002t0082g0186 a0001c0001t0031g0059 a0001c0002t0082g0186	2	77	0.0260	187	c.691 others(206): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(180): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCCTCCC CCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0091 a0001c0001t0078g0091	1	76	0.0132	187	c.691 others(206): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTC CCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(180): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTTC CCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0036 a0001c0003t0036	a0001c0003t0036g0128 a0001c0003t0036g0128	1	76	0.0132	187	c.691 others(206): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCCTTCCCCTTCCCCTTCCCC TTCCCCTTCCCCTTCCCCTTCCCCTTCCCCTCCCCCTCCCCCTCCCCCTC CCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	401912	C C	CACCCCGA others(180): Show CACCCCGACCCGCTCACCCCCGACCCGCTCACACCCGGGCCCCGCTCACA CCCGCCCCGCTCACACCCGACCCGCTCACACCCAACCCGCTCACCCCCGA CCCGCTCACCCCCGACCCGCTCACCCCAGCCCCGCTCACACCCGACCCGC TCACCCCGGACCCCGCTCACACCGGACCCCCGCTCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	236	0.0042	187	c.39 others(198): Show c.3983_*3984insTGTGAGCGGGGGTCCGGTGTGAGCGGGGTCCGGG GTGAGCGGGTCGGGTGTGAGCGGGGCTGGGGTGAGCGGGTCGGGGGTGAG CGGGTCGGGGGTGAGCGGGTTGGGTGTGAGCGGGTCGGGTGTGAGCGGGG CGGGTGTGAGCGGGGCCCGGGTGTGAGCGGGTCGGGGGTGAGCGGGTCGG GGT	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3803		chr11	TogoVar
SIGIRR_chr11_400716_419999	402078	C C	CGGGCCCC others(180): Show CGGGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCG ACCCGCTCACACCCGACCCGCTCACACCCCGGCCCCGCTCACCCCGGCCC CGCTCACCCCGGCCCCGCTCACACCCGCCCCGCTCACCCGGGACCCCGCT CACACCCGCCCCGCTCACCCGGACCCCGCTCACCCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0005 a0005	a0005c0012 a0005c0012	a0005c0012t0001 a0005c0012t0001	a0005c0012t0001g0153 a0005c0012t0001g0153	1	237	0.0042	187	c.38 others(198): Show c.3817_*3818insCGGGGGTGAGCGGGGTCCGGGTGAGCGGGGCGGG TGTGAGCGGGGTCCCGGGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGGTG AGCGGGGCCGGGGTGAGCGGGGCCGGGGTGTGAGCGGGTCGGGTGTGAGC GGGTCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTGTGAGCGGGG CCC	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3637		chr11	TogoVar
SLC6A18_chr5_1220381_1251189	1238245	G G	GTCAGGTT others(180): Show GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGAGCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGA CTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGG TCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0342 a0001c0002t0002g0342	1	437	0.0023	187	c.732 others(202): Show c.732+199_732+200insGGCCTGGGGCCTCAGGAAAGAGGTCAGGTT TGGAGTGAGCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTG GAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAA AGAGGTCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTT TGGAGTG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238266	G G	GAGGACTC others(180): Show GAGGACTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAA AGAGGTCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTT GGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGG GGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0127	1	315	0.0032	187	c.732 others(202): Show c.732+206_732+207insAGGACTCAGGAAAGACATCAGGTTTGGAGT GAGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGAGCCTGGGGCCT CAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGG GCCTGGA	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11			chr5	TogoVar
SLC6A18_chr5_1220381_1251189	1238282	G G	GTCAGGTT others(180): Show GTCAGGTTTGGAGTGGGCCTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAG TGAGCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGA CTCAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGG TCAGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG02683.hp1 HG00741.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0010	2	322	0.0062	187	c.732 others(202): Show c.732+243_732+244insGGCCTCAGGAAAGAGGTCAGGTTTGGAGTG AGCTTGGGGCCTCAGGAAAGAGGTCAGGTTTGGAGTGGGCCTGGAGGACT CAGGAAAGACATCAGGTTTGGAGTGAGCCTGGGGCCTCAGGAAAGAGGTC AGGTTTGGAGTGGGCCTGGAGGACTCAGGAAAGACATCAGGTTTGGAGTG GGCCTGG	SLC6A18	ENSG00000164363.10	transcript	ENST00000324642.4	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SLCO3A1_chr15_91848708_92170903	92047543	A A	ATAATATA others(180): Show ATAATATATAAATATATATATATTTATATATTATATATATTTATATATAT TTATTATATATATATATTATATATATATTTATATTATTATATATTATATA TTATATAATATATAAATATATATAAATATATATATAATATATAAATATAT ATATAATATATATATAATATATAAATATATATATAAAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0035 a0001c0001t0013g0035	1	168	0.0060	187	c.647 others(206): Show c.647-47338_647-47337insTAATATATAAATATATATATATTTAT ATATTATATATATTTATATATATTTATTATATATATATATTATATATATA TTTATATTATTATATATTATATATTATATAATATATAAATATATATAAAT ATATATATAATATATAAATATATATATAATATATATATAATATATAAATA TATATATAAAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SMIM14_chr4_39541336_39643865	39562810	A A	ATTTTTGT others(180): Show ATTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0329 a0001c0001t0029g0329	1	293	0.0034	187	c.125 others(204): Show c.125-6241_125-6240insATTAGCCGGGCGTAGTGGCGGGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAA ATACAAAAA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	3/4			chr4	TogoVar
SMYD3_chr1_245744347_246512279	246387835	A A	AAAAGCAT others(180): Show AAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTAGG GGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCGAGGTTGAA GTCAGTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCAC CTAAGGTTGAAGTCAGTTTCTAGGGGACCTCCTTGTAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02109.hp1 HG02280.hp1 others(10): Show HG01175.hp2 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02809.hp1 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03579.hp2 NA19030.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0003 others(2): Show a0001c0001 a0001c0009 a0002c0003 a0002c0004 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0002	a0001c0001t0001g0013 a0001c0001t0001g0064 a0001c0001t0001g0065 others(10): Show a0001c0001t0001g0013 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0002g0063 a0001c0001t0002g0069 a0001c0009t0001g0002 a0002c0003t0001g0096 a0002c0003t0001g0114 a0002c0003t0002g0095 a0002c0004t0001g0117 a0002c0004t0001g0146 a0002c0004t0002g0116 a0002c0005t0002g0106	13	139	0.0935	187	c.165 others(206): Show c.165-32742_165-32741insCTACAAGGAGGTCCCCTAGAAACTGA CTTCAACCTTAGGTGATTTTCAAGAATGAATGCTTTCTACAAGGAGGTCC CCAGAAACTGACTTCAACCTCGAGGTGATTTTCAAGAATGAATGCTTTCT ACAAGGAGGTCCCCTAGAAACTGACTTCAACCTCGAGGTGATTTTCAAGA ATGAATGCTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246387850	T T	TGAAAATC others(180): Show TGAAAATCACCTCGAGGTTGAAGTCAGTTTCTAGGGGACCTCCTTGTAGA AAGCATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTGGGGA CCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTAAGGTTGAAGTCA GTTTCTAGGGGACCTCCTTGTAGAAAGCATTCATTCTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01243.hp1 others(6): Show HG00733.hp2 HG01109.hp1 HG01243.hp1 HG02257.hp1 HG02451.hp2 HG02559.hp2 HG02717.hp1 HG03130.hp1 NA18522.hp1	a0002 a0002	a0002c0007 a0002c0008 a0002c0017 a0002c0007 a0002c0008 a0002c0017	a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 others(2): Show a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0017t0001	a0002c0007t0001g0135 a0002c0007t0001g0137 a0002c0007t0001g0140 others(6): Show a0002c0007t0001g0135 a0002c0007t0001g0137 a0002c0007t0001g0140 a0002c0007t0001g0141 a0002c0007t0004g0111 a0002c0008t0001g0112 a0002c0008t0001g0145 a0002c0008t0002g0142 a0002c0017t0001g0139	9	149	0.0604	187	c.165 others(206): Show c.165-32757_165-32756insCAGAATGAATGCTTTCTACAAGGAGG TCCCCTAGAAACTGACTTCAACCTTAGGTGATTTTCAAGAATGAATGCTT TCTACAAGGAGGTCCCCAGAAACTGACTTCAACCTCGAGGTGATTTTCAA GAATGAATGCTTTCTACAAGGAGGTCCCCTAGAAACTGACTTCAACCTCG AGGTGATTTTC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246388026	A A	ACATTCAT others(180): Show ACATTCATTCTTGAAAATCACCTCGAGGTTGAAGTCAGTTTCTAGAGGAC CTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCAAGGTTGAAGTCA GTTTCTGGGGACCTCCTTGTAGAAAGCATTCATTCTTGAAAATCACCTCG AGGTTGAAGTCAGTTTCTGGGGACCTCCTTGTAGAAAG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	79	0.0127	187	c.165 others(206): Show c.165-32933_165-32932insCTTTCTACAAGGAGGTCCCCAGAAAC TGACTTCAACCTCGAGGTGATTTTCAAGAATGAATGCTTTCTACAAGGAG GTCCCCAGAAACTGACTTCAACCTTGAGGTGATTTTCAAGAATGAATGCT TTCTACAAGGAGGTCCTCTAGAAACTGACTTCAACCTCGAGGTGATTTTC AAGAATGAATG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SPOCK3_chr4_166728384_167239494	167205280	A A	ATATATTA others(180): Show ATATATTATATATATTTTATATCTATAATATATATTATATATTATATATA TTTTATATCTATAATATATATTATATATTATATATATTTTATATCTATAA TATATATTATATATTATATATATTTTATATCTATAATATATATTATATAT TATATATATTTTATATCTATAATATATATTATATATTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0019 a0001c0001t0003g0019	1	133	0.0075	187	c.189 others(206): Show c.189+28704_189+28705insAAATATATAATATATATTATAGATAT AAAATATATATAATATATAATATATATTATAGATATAAAATATATATAAT ATATAATATATATTATAGATATAAAATATATATAATATATAATATATATT ATAGATATAAAATATATATAATATATAATATATATTATAGATATAAAATA TATATAATATA	SPOCK3	ENSG00000196104.11	transcript	ENST00000357545.9	protein_coding	2/10			chr4	TogoVar
SPRING1_chr12_116705171_116743069	116733346	T T	TTAATTTT others(180): Show TTAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCAC TGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02257.hp2 others(2): Show HG01891.hp1 HG02257.hp1 HG02257.hp2 HG02922.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0070 a0001c0001t0079 a0001c0001t0006 a0001c0001t0070 a0001c0001t0079	a0001c0001t0006g0028 a0001c0001t0006g0074 a0001c0001t0070g0073 others(1): Show a0001c0001t0006g0028 a0001c0001t0006g0074 a0001c0001t0070g0073 a0001c0001t0079g0069	5	333	0.0150	187	c.111 others(204): Show c.111+4443_111+4444insGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAATTA	SPRING1	ENSG00000111412.6	transcript	ENST00000261318.5	protein_coding	1/4			chr12	TogoVar
SPTY2D1_chr11_18601403_18639342	18621368	A A	AAGAAAAG others(180): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAA AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0249 a0001c0002t0005g0249	1	442	0.0023	187	c.61- others(202): Show c.61-4380_61-4379insCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTT CTTTTCT	SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5			chr11	TogoVar
SRXN1_chr20_641615_658200	642352	G G	GGGGGGGG others(180): Show GGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGTGGGGGGAGGCCCAGCGGG GGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGCCCAGCGGGGGTGGAG TTGCCTGTGGTGGGGGGCCCAGCGGGGGTGGAGTTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	338	0.0030	187	c.63 others(198): Show c.6361_*6362insGGCAACTCCACCCCCGCTGGGCCCCCCACCACAG GCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTCCACCCCCGCTGG GCCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCAGGCAACTC CACCCCCGCTGGGCCTCCCCCCACAGGCAACTCCACCCCCGCTGGGCCCC CCC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4262		chr20	TogoVar
STARD9_chr15_42570606_42725998	42712111	A A	AATATATA others(180): Show AATATATAATATATATAATATATATAATATATAATATATAATATATAATA TATATAATATATATAATATATAATATATAATATATATATTATATATTATA TATTATATATATTATATATATTATATATATTATATATTATATATATTATA TATATTATATATTATATATATTATATATATTATATATT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0013 a0013	a0013c0060 a0013c0060	a0013c0060t0001 a0013c0060t0001	a0013c0060t0001g0145 a0013c0060t0001g0145	1	96	0.0104	187	c.132 others(208): Show c.13285-4550_13285-4549insATATATATAATATATAATATATAA TATATAATATATATAATATATATAATATATAATATATAATATATATATTA TATATTATATATTATATATATTATATATATTATATATATTATATATTATA TATATTATATATATTATATATTATATATATTATATATATTATATATTATA TATAATATATATA	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	26/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
STPG2_chr4_97553872_98148476	98039408	A A	ATCCAGTA others(180): Show ATCCAGTAAAAATGTACAAGGTGTGCTGGAAGATATATCCTAAATTTTTT TATTTGTATAATTTTAAGGGGTACAAGAGCAGTTTTGTTACATGGATATA TTGCACAGTGGTGAAGACGGGGTTTTTAGTGTAACCGTCACCCAAATGTA CATTGTACCCATTAGTAATTTCTCATTCCTTACCCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(104): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG00735.hp1 HG00741.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01261.hp2 HG01433.hp1 HG01928.hp1 HG01952.hp1 HG02040.hp1 HG02109.hp1 HG02129.hp2 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18946.hp1 NA18946.hp2 NA18956.hp1 NA18959.hp1 NA18966.hp1 NA18979.hp2 NA18980.hp2 NA18986.hp2 NA18989.hp1 NA19000.hp1 NA19002.hp2 NA19009.hp1 NA19056.hp1 NA19062.hp1 NA19064.hp2 NA19066.hp1 NA19079.hp1 NA19080.hp2 NA19084.hp1 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0011	a0001c0013 a0002c0003 a0003c0004 others(3): Show a0001c0013 a0002c0003 a0003c0004 a0004c0005 a0005c0008 a0011c0014	a0001c0013t0001 a0002c0003t0002 a0003c0004t0001 others(3): Show a0001c0013t0001 a0002c0003t0002 a0003c0004t0001 a0004c0005t0002 a0005c0008t0002 a0011c0014t0002	a0001c0013t0001g0253 a0002c0003t0002g0001 a0002c0003t0002g0002 others(104): Show a0001c0013t0001g0253 a0002c0003t0002g0001 a0002c0003t0002g0002 a0002c0003t0002g0003 a0002c0003t0002g0004 a0002c0003t0002g0007 a0002c0003t0002g0008 a0002c0003t0002g0009 a0002c0003t0002g0010 a0002c0003t0002g0011 a0002c0003t0002g0013 a0002c0003t0002g0014 a0002c0003t0002g0016 a0002c0003t0002g0018 a0002c0003t0002g0020 a0002c0003t0002g0021 a0002c0003t0002g0022 a0002c0003t0002g0023 a0002c0003t0002g0024 a0002c0003t0002g0025 a0002c0003t0002g0026 a0002c0003t0002g0027 a0002c0003t0002g0028 a0002c0003t0002g0029 a0002c0003t0002g0030 a0002c0003t0002g0031 a0002c0003t0002g0032 a0002c0003t0002g0036 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0044 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0055 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0058 a0002c0003t0002g0059 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0003t0002g0068 a0002c0003t0002g0069 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0078 a0002c0003t0002g0079 a0002c0003t0002g0080 a0002c0003t0002g0081 a0002c0003t0002g0083 a0002c0003t0002g0084 a0002c0003t0002g0085 a0002c0003t0002g0086 a0003c0004t0001g0089 a0003c0004t0001g0090 a0003c0004t0001g0091 a0003c0004t0001g0092 a0003c0004t0001g0093 a0003c0004t0001g0094 a0003c0004t0001g0095 a0003c0004t0001g0096 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0101 a0003c0004t0001g0102 a0003c0004t0001g0103 a0003c0004t0001g0104 a0003c0004t0001g0105 a0003c0004t0001g0106 a0003c0004t0001g0107 a0003c0004t0001g0108 a0004c0005t0002g0005 a0004c0005t0002g0012 a0004c0005t0002g0019 a0004c0005t0002g0033 a0004c0005t0002g0034 a0004c0005t0002g0035 a0004c0005t0002g0045 a0004c0005t0002g0046 a0004c0005t0002g0047 a0004c0005t0002g0048 a0004c0005t0002g0049 a0004c0005t0002g0050 a0004c0005t0002g0060 a0004c0005t0002g0064 a0004c0005t0002g0065 a0004c0005t0002g0067 a0004c0005t0002g0072 a0004c0005t0002g0082 a0004c0005t0002g0087 a0005c0008t0002g0006 a0005c0008t0002g0015 a0011c0014t0002g0088	107	264	0.4053	187	c.613 others(206): Show c.613-58091_613-58090insGAGGGGTAAGGAATGAGAAATTACTA ATGGGTACAATGTACATTTGGGTGACGGTTACACTAAAAACCCCGTCTTC ACCACTGTGCAATATATCCATGTAACAAAACTGCTCTTGTACCCCTTAAA ATTATACAAATAAAAAAATTTAGGATATATCTTCCAGCACACCTTGTACA TTTTTACTGGA	STPG2	ENSG00000163116.10	transcript	ENST00000295268.4	protein_coding	5/10			chr4	TogoVar
TAF4_chr20_61969798_62070881	61971293	A A	ATTCAACA others(180): Show ATTCAACACTGGGTAGACGGGCATTCAGCTTCATCACTGCATCACACACC GGGCAGACGTGCGTTCAACACTGGGTAGACGTGCATTCAGCTTCATCACT GCATCACACACCGGGTAGACGTGCGTTCAACACTGGGTAGACGTGCATTC AGCTTCATCACTGCGTCACACACCGGGTAGAACGTGCG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18956.hp1 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	253	0.0040	187	c.48 others(198): Show c.4874_*4875insCGCACGTTCTACCCGGTGTGTGACGCAGTGATGA AGCTGAATGCACGTCTACCCAGTGTTGAACGCACGTCTACCCGGTGTGTG ATGCAGTGATGAAGCTGAATGCACGTCTACCCAGTGTTGAACGCACGTCT GCCCGGTGTGTGATGCAGTGATGAAGCTGAATGCCCGTCTACCCAGTGTT GAA	TAF4	ENSG00000130699.20	transcript	ENST00000252996.9	protein_coding		3504		chr20	TogoVar
TANC2_chr17_62961235_63432703	62996974	T T	TGGCTAAT others(180): Show TGGCTAATTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCC	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02647.hp1 HG02717.hp1 others(11): Show HG01346.hp1 HG02647.hp1 HG02717.hp1 HG02738.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03209.hp1 NA19012.hp1 NA19058.hp1 NA19066.hp2 NA19070.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0038 a0001c0001t0002g0037 a0001c0001t0002g0039 others(11): Show a0001c0001t0001g0038 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0070 a0001c0001t0002g0137 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096	14	124	0.1129	187	c.-23 others(206): Show c.-23-12543_-23-12542insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGC CTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTT TTTGTATTTTT	TANC2	ENSG00000170921.16	transcript	ENST00000689528.1	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr17	TogoVar
TAPT1_chr4_16155505_16231471	16194857	C C	CCCCTCCT others(180): Show CCCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0086 a0001c0002t0005g0086	1	378	0.0026	187	c.450 others(204): Show c.450-3335_450-3334insAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAG GAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA GGAGGAGGG	TAPT1	ENSG00000169762.17	transcript	ENST00000405303.7	protein_coding	3/13			chr4	TogoVar
TERT_chr5_1248167_1300068	1273699	C C	CCACACAT others(180): Show CCACACATCAGACCCCACAACCGCCATCCACAGTCACCACACATCAGACC CCACGACCGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATC CACAGTCACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACAC ATCAGACCCCTGTGACCGATCACCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0242	1	247	0.0040	187	c.228 others(206): Show c.2287-1420_2287-1419insTGGTGACTGTGGATGGTGATCGGTCA CAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGT GTGGTGACTGTGGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGA TGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTTGTGGGG TCTGATGTGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar

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