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
SLC8A1_chr2_40092270_40457090	40200177	T T	TATATATA others(167): Show TATATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATATAAATATATATATATTTATATATATATAAATATATATATATA TTTATATATATATATAAATATATATATATATTTATATATATATAAATATA TATATATATTTATATATATATATAA	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0186 a0001c0001t0017g0186	1	236	0.0042	174	c.180 others(195): Show c.1809-21685_1809-21684insTTATATATATATATAAATATATAT ATATATTTATATATATATAAATATATATATATATTTATATATATATATAA ATATATATATATATTTATATATATATAAATATATATATATTTATATATAT ATATAAATATATATATATATTTATATATATATATAAATATATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200177	T T	TATATATA others(167): Show TATATATATATATATTTATATATATATATAAATATATATATATATTTATA TATATATATTTATATATATATATTTATATATATATATAAATATATATATA TATTTATATATATATATAAATATATATATATTTATATATATATAAATATA TATATATATTTATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0127 a0001c0001t0127	a0001c0001t0127g0150 a0001c0001t0127g0150	1	236	0.0042	174	c.180 others(195): Show c.1809-21685_1809-21684insTTATATATATATATAAATATATAT ATATATTTATATATATATAAATATATATATATTTATATATATATATAAAT ATATATATATATTTATATATATATATAAATATATATATATAAATATATAT ATATAAATATATATATATATTTATATATATATATAAATATATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200177	T T	TATATATA others(167): Show TATATATATATATATTTATATATATATATAAATATATATATATTTATATA TATATATAAATATATATATATATTTATATATATATAAATATATATATATA TTTATATATATATATAAATATATATATATATTTATATATATATAAATATA TATATATATTTATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02293.hp2 NA18953.hp1 NA19009.hp1 HG02293.hp2 NA18953.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0034 a0001c0001t0042 a0001c0001t0028 a0001c0001t0034 a0001c0001t0042	a0001c0001t0028g0026 a0001c0001t0034g0159 a0001c0001t0042g0035 a0001c0001t0028g0026 a0001c0001t0034g0159 a0001c0001t0042g0035	3	236	0.0127	174	c.180 others(195): Show c.1809-21685_1809-21684insTTATATATATATATAAATATATAT ATATATTTATATATATATAAATATATATATATATTTATATATATATATAA ATATATATATATATTTATATATATATAAATATATATATATATTTATATAT ATATATAAATATATATATATTTATATATATATATAAATATATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200179	T T	TATATATA others(167): Show TATATATATATATTTATATATATATATAAATATATATATATATTTATATA TATATATAAATATATATATATATTTATATATATATATAAATATATATATA TATTTATATATATATATAAATATATATATATATTTATATATATATAAATA TATATATATTTATATATATATATAA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0046	a0001c0001t0046g0015 a0001c0001t0046g0015	1	236	0.0042	174	c.180 others(195): Show c.1809-21687_1809-21686insTTATATATATATATAAATATATAT ATATTTATATATATATAAATATATATATATATTTATATATATATATAAAT ATATATATATATTTATATATATATATAAATATATATATATATTTATATAT ATATATAAATATATATATATATTTATATATATATATAAATATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SMYD3_chr1_245744347_246512279	246402367	T T	TAACAACG others(167): Show TAACAACGCCATCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGC GATCTCGGCTCACCACAACCTCCGCCTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00741.hp2 HG01981.hp1 others(2): Show HG00597.hp2 HG00741.hp2 HG01981.hp1 HG04115.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 others(1): Show a0001c0001 a0001c0002 a0002c0004 a0002c0016	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0002c0004t0001 a0002c0016t0001	a0001c0001t0001g0044 a0001c0001t0002g0085 a0001c0002t0001g0015 others(2): Show a0001c0001t0001g0044 a0001c0001t0002g0085 a0001c0002t0001g0015 a0002c0004t0001g0098 a0002c0016t0001g0097	5	150	0.0333	174	c.165 others(193): Show c.165-47274_165-47273insGTCCCAGCTACTCGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGGTTGTGGTGAGCCGAGATCG CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGATGGCGTTGTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNTG2_chr2_945849_1372613	1221847	G G	GCCTCTCT others(167): Show GCCTCTCTCTGTCTCTGTCTCTCTCTCTCTGTCTCTGTCTCTCTCTGTCT CTCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTCTCTCTGTCTCTGT CTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGT CTCTGCCTATCTCTGTCTCTGTTTC	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0027 a0001c0002t0001g0027	1	190	0.0053	174	c.719 others(193): Show c.719+12617_719+12618insCCTCTCTCTGTCTCTGTCTCTCTCTC TCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTCTCTCTGTCTC TGTCTCTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTC TGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTC	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16			chr2	TogoVar
SNTG2_chr2_945849_1372613	1222115	G G	GTCTCTGC others(167): Show GTCTCTGCCTATCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCTGTCTCT CTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCTCTGTCTCTGT CTCTCTCTGTCTCTCTCTGTCTCTGTCTCTATCTCTGTCTCTCTCTCTGT CTCTGTCTCTCTCTGTCTCTGTCTC	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0001 a0003c0008t0001	a0003c0008t0001g0044 a0003c0008t0001g0044	1	190	0.0053	174	c.719 others(193): Show c.719+12890_719+12891insGCCTATCTCTGTCTCTGTTTCTCTCT GTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGT CTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGTCTCTAT CTCTGTCTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTGTCTCTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNX6_chr14_34556093_34635148	34557555	T T	TCTTCTTC others(167): Show TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTTCTTCTTCTTT CTTCTTCTTCTTCTTCTTCTTCTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0023 a0001c0001t0004g0023	1	322	0.0031	174	c.55 others(185): Show c.5566_*5567insGAAGAAGAAGAAGAAGAAGAAGAAGAAAGAAGAA GAAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding		3537		chr14	TogoVar
SOCS7_chr17_38346844_38410593	38389870	T T	TATATATA others(167): Show TATATATATATATGTACATATATATATATGTACATATATATATGTACATA TATATATGTACATATATATATGTACATATATATATGTACATATATATATG TACATATATATATGTACATATATATATGTACATATATATATGTACATATA TATATGTACATATATATATATGTAC	intron_variant intron_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0239 a0001c0001t0001g0239	1	289	0.0035	174	c.168 others(193): Show c.1682-5411_1682-5410insGTACATATATATATGTACATATATAT ATGTACATATATATATGTACATATATATATGTACATATATATATGTACAT ATATATATGTACATATATATATGTACATATATATATGTACATATATATAT GTACATATATATATATGTACATATATATATATGTACATATATATATAT	SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr17	TogoVar
SORCS3_chr10_104636290_105270242	104696153	T T	TATATCAT others(167): Show TATATCATATACACATATATAATATATATCATATACACATATAATATATA ATATATATCATATACACATATAATATATGATATATATCATATACACATAT AATATATGATATATATCATATACACATATAATATATGATATATATCATAT ACACATATAATATATGATATATATC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01071.hp1 HG01167.hp1 others(6): Show HG00609.hp1 HG01071.hp1 HG01167.hp1 HG02970.hp2 HG03139.hp1 NA18906.hp1 NA19002.hp1 NA19003.hp1 NA19010.hp2	a0001 a0005 a0009 others(1): Show a0001 a0005 a0009 a0012	a0001c0001 a0001c0002 a0005c0007 others(2): Show a0001c0001 a0001c0002 a0005c0007 a0009c0019 a0012c0014	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0002t0008 a0005c0007t0001 a0009c0019t0002 a0012c0014t0001	a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0004g0067 others(6): Show a0001c0001t0002g0063 a0001c0001t0002g0066 a0001c0001t0004g0067 a0001c0002t0001g0057 a0001c0002t0008g0013 a0005c0007t0001g0061 a0005c0007t0001g0062 a0009c0019t0002g0109 a0012c0014t0001g0015	9	134	0.0672	174	c.627 others(193): Show c.627+54203_627+54204insCATATACACATATATAATATATATCA TATACACATATAATATATAATATATATCATATACACATATAATATATGAT ATATATCATATACACATATAATATATGATATATATCATATACACATATAA TATATGATATATATCATATACACATATAATATATGATATATATCATAT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696153	T T	TATATCAT others(167): Show TATATCATATACACATATATAATATATATCATATACACATATAATATATG ATATATATCATATACACATATAATATATGATATATATCATATACACATAT AATATATGATATATATCATATACACATATAATATATGATATATATCATAT ACACATATAATATATGATATATATC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0060 a0001c0002t0003g0060	1	134	0.0075	174	c.627 others(193): Show c.627+54203_627+54204insCATATACACATATATAATATATATCA TATACACATATAATATATGATATATATCATATACACATATAATATATGAT ATATATCATATACACATATAATATATGATATATATCATATACACATATAA TATATGATATATATCATATACACATATAATATATGATATATATCATAT	SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr10	TogoVar
SPATA13_chr13_24155720_24312069	24189953	T T	TTATATAT others(167): Show TTATATATAATTATATAATATATTACGTAATATATTATATATAATTATAT AATATATTACGTAATATATTATATATAATTATATAATATATTACGTAATA TATTATATATAATTATATATAATATATTACGTAATATATTATATATAATT ATATAATATATTACGTAATATATTA	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0103 a0001c0002t0008g0103	1	356	0.0028	174	c.-11 others(195): Show c.-112+29027_-112+29028insTAATTATATAATATATTACGTAAT ATATTATATATAATTATATAATATATTACGTAATATATTATATATAATTA TATAATATATTACGTAATATATTATATATAATTATATATAATATATTACG TAATATATTATATATAATTATATAATATATTACGTAATATATTATATATA	SPATA13	ENSG00000182957.16	transcript	ENST00000382108.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr13	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(167): Show CCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACC CTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCC CCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01934.hp2 HG02004.hp1 HG03831.hp2 others(2): Show HG01934.hp2 HG02004.hp1 HG03831.hp2 NA19005.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010	5	418	0.0120	174	c.54 others(185): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(167): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCTCCTCCCACCACC CTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCC CCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	174	c.54 others(185): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(167): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCTCCTCCTCCTCCCACCACC CTCCCCCTCCCTTCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCC CCCTCCCGCTTTCCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp1 NA18957.hp1 NA18986.hp2 others(1): Show HG03139.hp1 NA18957.hp1 NA18986.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0008g0017 a0001c0001t0001g0001 a0001c0001t0008g0017	4	418	0.0096	174	c.54 others(185): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGAGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(167): Show AGGGGAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGATGGGAGGGGAGGGGACGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	260	0.0039	174	c.138 others(193): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCCCCTCCCCTCCCCTCCC CTCCCCTCCCCTCCCGTCCCCTCCCCTCCCATCCCCTCCCCTCCCCTCCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPRING1_chr12_116705171_116743069	116733346	T T	TTAATTTT others(167): Show TTAATTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTC GCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCC TCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACT ACAGGCGCCCGCCACTACGCCCGGC	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0078 a0001c0001t0078	a0001c0001t0078g0075 a0001c0001t0078g0075	1	362	0.0028	174	c.111 others(191): Show c.111+4443_111+4444insGCCGGGCGTAGTGGCGGGCGCCTGTAGT CCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGC GGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGAC AGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTA	SPRING1	ENSG00000111412.6	transcript	ENST00000261318.5	protein_coding	1/4			chr12	TogoVar
SPTB_chr14_64741283_64884907	64822374	T T	TCTCTCTC others(167): Show TCTCTCTCTCTCACACACACACACACACACACACACACACACACACACAC ACACACACACACAGCAAGAGAGAGAGAGGGTGGGGGTGGAGAATATCTTA AATCTCTAGTAGAAATGGCTTCTCCTCCCTCTGCTGGCTGAGGTCTGGTT CTTGGGATACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0024 a0004c0024	a0004c0024t0001 a0004c0024t0001	a0004c0024t0001g0024 a0004c0024t0001g0024	1	268	0.0037	174	c.148 others(189): Show c.148+572_148+573insTGTGTGTGTGTGTGTGTATCCCAAGAACCA GACCTCAGCCAGCAGAGGGAGGAGAAGCCATTTCTACTAGAGATTTAAGA TATTCTCCACCCCCACCCTCTCTCTCTCTTGCTGTGTGTGTGTGTGTGTG TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGAGAGAGAGAG	SPTB	ENSG00000070182.21	transcript	ENST00000644917.1	protein_coding	2/35			chr14	TogoVar
SRP68_chr17_76033785_76077517	76062684	A A	AATATATA others(167): Show AATATATAATATACATTATATATTATATATACATTATATATTATATAATA TACATTATACATTATATATTATATAATATACATTATATATTATATAATAT ACATTATATATTATATAATATATAATATACATTATATATTATATAATATA TAATATACATTATATATTATATAAT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0103 a0001c0001t0002g0103	1	365	0.0027	174	c.562 others(191): Show c.562-1111_562-1110insATTATATAATATATAATGTATATTATAT ATTATATAATATATAATGTATATTATATATTATATAATATATAATGTATA TTATATAATATATAATGTATATTATATAATATATAATGTATAATGTATAT TATATAATATATAATGTATATATAATATATAATGTATATTATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
STXBP5L_chr3_120903205_121429761	121300284	A A	AAGAAAAT others(167): Show AAGAAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCC CAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCC CGGGTTCACGCCATTCTCCTGCCTC	intron_variant intron_variant	MODIFIER	NA19078.hp2 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0254 a0001c0001t0030g0254	1	290	0.0035	174	c.211 others(195): Show c.2111-18180_2111-18179insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGAAAATTTTT	STXBP5L	ENSG00000145087.14	transcript	ENST00000471454.6	protein_coding	19/26		INFO_REALIGN_3_PRIME	chr3	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAT others(167): Show GTATATATACGTGTATATATATACGTGTGTGTGTATATATACGTGTATAT ATATACGTGTGTGTGTATATATACGTGTATATATATACGTGTGTGTGTAT ATATACGTGTATATATATACGTGTATATATATACGTGTGTGTATATATAT ACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01099.hp1 HG01192.hp1 others(17): Show HG00323.hp2 HG01099.hp1 HG01192.hp1 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01993.hp1 HG02273.hp1 HG02451.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG03195.hp1 HG04184.hp1 NA19043.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0002c0004 others(1): Show a0001c0001 a0002c0003 a0002c0004 a0003c0005	a0001c0001t0008 a0002c0003t0002 a0002c0003t0003 others(4): Show a0001c0001t0008 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0004t0001 a0003c0005t0005 a0003c0005t0009	a0001c0001t0008g0078 a0002c0003t0002g0001 a0002c0003t0002g0024 others(16): Show a0001c0001t0008g0078 a0002c0003t0002g0001 a0002c0003t0002g0024 a0002c0003t0002g0027 a0002c0003t0003g0028 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0032 a0002c0003t0004g0020 a0002c0004t0001g0023 a0002c0004t0001g0025 a0002c0004t0001g0026 a0002c0004t0001g0029 a0002c0004t0001g0037 a0002c0004t0001g0038 a0003c0005t0005g0016 a0003c0005t0005g0017 a0003c0005t0005g0018 a0003c0005t0009g0015	20	392	0.0510	174	c.271 others(191): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTATA TATATACACACACGTATATATATACACGTATATATATACACGTATATATA CACACACACGTATATATATACACGTATATATACACACACACGTATATATA TACACGTATATATACACACACACGTATATATATACACGTATATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SUSD1_chr9_112035783_112180297	112138240	T T	TATATATA others(167): Show TATATATATATATATATATATATGTATATACACATATATATATGTATATA CACATATATATATGTATATACACATATATATGTATATACACATATATATA TGTATATACACATATATATATGTATATACACATATATATATATGTGTATA CACATATATATATATGTATATATAC	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0243 a0001c0001t0003g0243	1	338	0.0030	174	c.706 others(191): Show c.706+4079_706+4080insGTATATATACATATATATATATGTGTAT ACACATATATATATATGTGTATATACATATATATATGTGTATATACATAT ATATATGTGTATATACATATATATGTGTATATACATATATATATGTGTAT ATACATATATATATGTGTATATACATATATATATATATATATATAT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	5/16			chr9	TogoVar
SWAP70_chr11_9659077_9757993	9706078	C C	CTGGTGAT others(167): Show CTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATA CACTGGTGATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTA TACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTG TATACACTGGTGATCTGTGTATACT	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0188 a0002c0004t0001g0188	1	294	0.0034	174	c.241 others(191): Show c.241-7272_241-7099dupGTATACTTGGTGATCTGTATACACTGGT GATCTGTATACACTGGTGATCTGTGTATACTTGGTGATCTGTATACACTG GTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGTATACAC TGGTGATCTGTGTATACTTGGTGATCTGTATACACTGGTGATCTGT	SWAP70	ENSG00000133789.15	transcript	ENST00000318950.11	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
SYK_chr9_90796819_90903549	90884250	C C	CATACACA others(167): Show CATACACATACGTGTATATATACACATACACATACGTGTATATATACACA TACACATACACATACGTGTATATATACACATACACATACACATACGTGTA TATATACACACATATACACATACACATACGTGTATATATACACACATATA CACATACGTGTATATATACACACAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	376	0.0027	174	c.158 others(193): Show c.1582-3489_1582-3488insGTGTATATATACACATACACATACGT GTATATATACACATACACATACACATACGTGTATATATACACATACACAT ACACATACGTGTATATATACACACATATACACATACACATACGTGTATAT ATACACACATATACACATACGTGTATATATACACACATATACACATAC	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884590	T T	TGTGTACA others(167): Show TGTGTACATGTACATACATACACATACACATGTGTGTACATGTACATACA TACACATACACATGTGTACATGTACATATATACACATACACATGTGTACA TGTACATATATACACATGTGTACATGTACATATATACACATACACATGTG TACATGTACATATATACACATACAC	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG04184.hp1 NA18747.hp2 others(2): Show HG02129.hp1 HG04184.hp1 NA18747.hp2 NA19058.hp2 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0011 a0001c0003t0052 a0001c0003t0008 a0001c0003t0011 a0001c0003t0052	a0001c0003t0008g0217 a0001c0003t0008g0342 a0001c0003t0011g0218 others(2): Show a0001c0003t0008g0217 a0001c0003t0008g0342 a0001c0003t0011g0218 a0001c0003t0011g0292 a0001c0003t0052g0161	5	376	0.0133	174	c.158 others(193): Show c.1582-3159_1582-3158insGTGTACATGTACATACATACACATAC ACATGTGTGTACATGTACATACATACACATACACATGTGTACATGTACAT ATATACACATACACATGTGTACATGTACATATATACACATGTGTACATGT ACATATATACACATACACATGTGTACATGTACATATATACACATACAC	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13			chr9	TogoVar
SYNM_chr15_99100080_99140593	99104532	C C	CATATATA others(167): Show CATATATATATATATGTGTATATATATATATATATATATATATGTGTATA TATATATATATATATATATATGTGTATATATATATATATATATATATATG TGTATATATATATATATATATATATGTGTATATATATATGTATATATATG TGTATATATATATATATGTGTGTAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0001 a0011c0009t0001	a0011c0009t0001g0054 a0011c0009t0001g0054	1	420	0.0024	174	c.-66 others(183): Show c.-668_-667insATATATATATATATGTGTATATATATATATATATAT ATATATGTGTATATATATATATATATATATATATGTGTATATATATATAT ATATATATATATGTGTATATATATATATATATATATATGTGTATATATAT ATGTATATATATGTGTATATATATATATATGTGTGTAT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		547		chr15	TogoVar
SYNPR_chr3_63273308_63621924	63313900	C C	CATATATA others(167): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATCCATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0039 a0001c0001t0003g0039	1	246	0.0041	174	c.84+ others(191): Show c.84+35182_84+35183insCCATATATATATCCATATATATATATCC ATATATATATCCATATATATATATATCCATATATATATATATCCATATAT ATATATCCATATATATATATCCATATATATATATATCCATATATATATAT ATCCATATATATATATCCATATATATATATATCCATATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313916	T T	TATATATA others(167): Show TATATATATCCATATATATATCCATATATATATATCCATATATATATCCA TATATATATATCCATATATATATCCATATATATATATCCATATATATATC CATATATATATATCCATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATATCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	246	0.0041	174	c.84+ others(191): Show c.84+35182_84+35183insCCATATATATATCCATATATATATATCC ATATATATATCCATATATATATATCCATATATATATCCATATATATATAT CCATATATATATCCATATATATATATCCATATATATATCCATATATATAT ATATCCATATATATATATATCCATATATATATATATCCATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
SYNPR_chr3_63273308_63621924	63314006	C C	CATATATA others(167): Show CATATATATATATCCATATATATATATATCCATATATATATATATCCATA TATATATATCCATATATATATATATCCATATATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATATCCATATATATATATATCCAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	246	0.0041	174	c.84+ others(191): Show c.84+35322_84+35323insCCATATATATATATATCCATATATATAT ATATCCATATATATATATATCCATATATATATATATCCATATATATATAT ATCCATATATATATATATCCATATATATATATATCCATATATATATATAT CCATATATATATATATCCATATATATATATATCCATATATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TAFA5_chr22_48484553_48756932	48729262	A A	ATTTTATA others(167): Show ATTTTATATTTATTTATAAATATATAATAATTTTATATTTATTTATAAAT ATATAATAATTTTATATTTATTTATAAATATATAATAATTTTATATTTAT TTATAAATATATAATAATTTTATATTTATTTATAAATATATAATAATTTT ATATTTATTTATAAATATATAATAT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 HG02922.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0237 a0001c0001t0002g0014 a0001c0001t0002g0237	2	258	0.0078	174	c.391 others(193): Show c.391-20520_391-20519insATTTTATATTTATTTATAAATATATA ATAATTTTATATTTATTTATAAATATATAATAATTTTATATTTATTTATA AATATATAATAATTTTATATTTATTTATAAATATATAATATTTTTATATT TATTTATAAATATATAATAATTTTATATTTATTTATAAATATATAATA	TAFA5	ENSG00000219438.9	transcript	ENST00000402357.6	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr22	TogoVar
TALDO1_chr11_742464_770012	763218	T T	TGCCCCCG others(167): Show TGCCCCCGCCCTCACCCGCCCCGCCCTCACCCGCCCCCGCCCTCACCCGC CCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCC CCGCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCG CCCTCACCCGCCCCCGCCCTCACCC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	416	0.0024	174	c.462 others(189): Show c.462-105_462-104insGCCCTCACCCGCCCCCGCCCTCACCCGCCC CCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCCC GCCCTCACCCATCCCCGCCCTCACCGTCCCCGCCCTCACCCGCCCCCGCC CTCACCCGCCCCCGCCCTCACCCGCCCCCGCCCTCACCCGCCCC	TALDO1	ENSG00000177156.11	transcript	ENST00000319006.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
TATDN3_chr1_212786894_212821830	212806838	A A	ATATATAC others(167): Show ATATATACACATATATACATATATATACACATATATACATATGTATATAC ACATATATACATATGTATATACACATATATACATATGTATATACACATAT ATACATATGTATATACACATATATACATATGTATATACACATATATACAT ATGTATATACACATATATACATATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03195.hp1 HG03516.hp2 HG01891.hp1 HG03195.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0032 a0001c0001t0006g0190 a0001c0001t0006g0032 a0001c0001t0006g0190	3	390	0.0077	174	c.488 others(189): Show c.488-877_488-876insATATACACATATATACATATGTATATACAC ATATATACATATGTATATACACATATATACATATGTATATACACATATAT ACATATGTATATACACATATATACATATGTATATACACATATATACATAT GTATATACACATATATACATATGTATATACACATATATACATAT	TATDN3	ENSG00000203705.11	transcript	ENST00000366974.9	protein_coding	7/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
TBATA_chr10_70766238_70790377	70767660	A A	AAGAAAGA others(167): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGAAAGAAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	410	0.0024	174	c.37 others(185): Show c.3715_*3716insCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	TBATA	ENSG00000166220.14	transcript	ENST00000456372.4	protein_coding		3577		chr10	TogoVar
TCF25_chr16_89868592_89916379	89907612	A A	ACCTCCCT others(167): Show ACCTCCCTCCTCCCAGTTCCCACCTCCCAGTTCCCACCTCCCTCCTCCCT CCTCTCAGCTCCCGCTCCCACCTCCCAGTTCCCACCTCCCAGCTCCCACC TCCCTCCTCCCTCCTCTCAGCTCCCGGCTCCCACCTCCCAGTTCCCACCT CCCAGCTCCCACCTCCCTCCTCCCT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	300	0.0033	174	c.179 others(191): Show c.1799+296_1799+297insTCCTCCCAGTTCCCACCTCCCAGTTCCC ACCTCCCTCCTCCCTCCTCTCAGCTCCCGCTCCCACCTCCCAGTTCCCAC CTCCCAGCTCCCACCTCCCTCCTCCCTCCTCTCAGCTCCCGGCTCCCACC TCCCAGTTCCCACCTCCCAGCTCCCACCTCCCTCCTCCCTCCTCCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TCF3_chr19_1604292_1657615	1628181	G G	GCTCACAG others(167): Show GCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGGTGA GGCGGGAAGGGGACAGCAGAGCTCACGGGGGTGAGGCGGGAAGGGGACAG TAGAGCTCACAGGGGGTGAGGCGGGAAGGGGACAGCAGAACTCACAGGGG GTGAGGCGGGAAGGGGACAGCAGAA	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0024 a0001c0005t0009g0024	1	352	0.0028	174	c.299 others(189): Show c.299-756_299-755insTTCTGCTGTCCCCTTCCCGCCTCACCCCCT GTGAGTTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAGCTCTACTGTC CCCTTCCCGCCTCACCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACC CCCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCCTGTGAG	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628609	C C	CGGGAAGG others(167): Show CGGGAAGGGGACAGCAGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGC AGAGCTCACAGGGGATGAGGCGGGAAGGGGACAGCAGAGCTCACAGGGGG TGAGGCGGGAAAGGGACAGCAGAGCTCACAGGGGGTGAGGCGGGAAGGGG ACAGCAGAGCTCATGGGGATGGGGT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0078 a0001c0002t0078	a0001c0002t0078g0189 a0001c0002t0078g0189	1	352	0.0028	174	c.299 others(191): Show c.299-1184_299-1183insACCCCATCCCCATGAGCTCTGCTGTCCC CTTCCCGCCTCACCCCCTGTGAGCTCTGCTGTCCCTTTCCCGCCTCACCC CCTGTGAGCTCTGCTGTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCT GTCCCCTTCCCGCCTCATCCCCTGTGAGCTCTGCTGTCCCCTTCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCF3_chr19_1604292_1657615	1628632	C C	CGGGGGTG others(167): Show CGGGGGTGAGGCGGGAAGGGGACAGCAGAGCTCACGGGGGATGGGGTGGG AAGGGGACAGCAGAGCTCACAGGGGATGGGGTGGGAAGGGGACAGCAGAG CTCACAGGGGGTGAGGTGGGAAGGGGACAGCAGAGCTCACGGGGGTGGGG CAGGAAGGGGACAGCAGAGCTCACG	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0021 a0001c0004t0021	a0001c0004t0021g0321 a0001c0004t0021g0321	1	352	0.0028	174	c.299 others(191): Show c.299-1207_299-1206insCGTGAGCTCTGCTGTCCCCTTCCTGCCC CACCCCCGTGAGCTCTGCTGTCCCCTTCCCACCTCACCCCCTGTGAGCTC TGCTGTCCCCTTCCCACCCCATCCCCTGTGAGCTCTGCTGTCCCCTTCCC ACCCCATCCCCCGTGAGCTCTGCTGTCCCCTTCCCGCCTCACCCCC	TCF3	ENSG00000071564.19	transcript	ENST00000262965.12	protein_coding	5/18			chr19	TogoVar
TCN2_chr22_30602174_30632271	30623891	T T	TATATGTA others(167): Show TATATGTATACATATATATACACACATATATGTATACATATATACACACA TATATGTATACATATATACACACATATATGTATACATATATACACACATA TATGTATACATATATATACACACATATATGTATACATATATATACACACA TATATGTATACATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0007 a0004c0004t0007	a0004c0004t0007g0125 a0004c0004t0007g0125	1	466	0.0022	174	c.122 others(191): Show c.1222+812_1222+813insGTATACATATATATACACACATATATGT ATACATATATACACACATATATGTATACATATATACACACATATATGTAT ACATATATACACACATATATGTATACATATATATACACACATATATGTAT ACATATATATACACACATATATGTATACATATATATACACACATAT	TCN2	ENSG00000185339.10	transcript	ENST00000215838.8	protein_coding	8/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
TERT_chr5_1248167_1300068	1273699	C C	CCACATCA others(167): Show CCACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGACCCC ACGACTGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACA GTCACCACATCAGACCCCACGACCGCCATCCACAGTCACCACATCAGACC CCACGACCGCCATCCACAGTCACCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0207 a0001c0001t0002g0207	1	392	0.0026	174	c.228 others(193): Show c.2287-1420_2287-1419insTGGTGACTGTGGATGGCGGTCGTGGG GTCTGATGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGGTGACT GTGGATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCAGTCGTG GGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTG	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
THEM4_chr1_151865866_151914511	151867588	C C	CTCCTCCT others(167): Show CTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT CCTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC TTCTTCTTCTTCTTCTTCTTCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0010 a0004c0005t0010	a0004c0005t0010g0027 a0004c0005t0010g0027	1	374	0.0027	174	c.72 others(185): Show c.7299_*7300insAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA GAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAGGAGGAGGAGG AGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGA	THEM4	ENSG00000159445.13	transcript	ENST00000368814.8	protein_coding		3277		chr1	TogoVar
TIMM22_chr17_992129_1008671	993742	C C	CCTCACAT others(167): Show CCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCTCACA TAATCCACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATTC ACCCTCACATAATCCACCTCACATAATCCACCCTCACATAATCCACCCTC ACATAATCCACCCTCACATAATCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG01243.hp1 HG03704.hp2 others(3): Show HG00099.hp1 HG01243.hp1 HG03704.hp2 HG03942.hp2 HG04199.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0013 a0001c0001t0001 a0001c0001t0004 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0013g0001 a0001c0001t0001g0001 a0001c0001t0004g0001 a0001c0001t0013g0001	6	439	0.0137	174	c.-34 others(185): Show c.-3401_-3400insCTCACATAATCCACCTCACATAATCCACCCTCAC ATAATCCACCTCACATAATCCACCCTCACATAATCCACCTCACATAATCC ACCCTCACATAATTCACCCTCACATAATCCACCTCACATAATCCACCCTC ACATAATCCACCCTCACATAATCCACCCTCACATAATCCA	TIMM22	ENSG00000177370.5	transcript	ENST00000327158.5	protein_coding		3386		chr17	TogoVar
TMEM132B_chr12_125181386_125667369	125410152	A A	AGTGGAGT others(167): Show AGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGGAGTGGAGTGGAGTGAGTG GAGTGGAGTGGAGTGGAGTGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGA GTGGAGGAGTGGAGTGAGTGGAGTGGAGTGGAGTGGAGTGAGTGGAGTGA GTGGAGTGGAGTGGAGGAGTAGAGT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0115 a0001c0002t0004g0115	1	128	0.0078	174	c.960 others(191): Show c.960-5378_960-5377insTGGAGTGGAGTGAGTGGAGTGGAGTGGA GGAGTGGAGTGGAGTGAGTGGAGTGGAGTGGAGTGGAGTGAGTGGAGTGG AGTGAGTGGAGTGGAGTGGAGTGGAGGAGTGGAGTGAGTGGAGTGGAGTG GAGTGGAGTGAGTGGAGTGAGTGGAGTGGAGTGGAGGAGTAGAGTG	TMEM132B	ENSG00000139364.11	transcript	ENST00000682704.1	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM132D_chr12_129066726_129909025	129698621	A A	AGAGGGGA others(167): Show AGAGGGGAAGGGAGGGGAGGGGAGGGGAGAATGGAGGGGAGAGGGGAGGG GGGAGGGGAGGGGAGAGGGGAGGGGAGGGAGGGGAGGGGAGAGGGGAGGG GAGGGGAGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGG AGGGGAGAGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0072 a0001c0001t0016g0072	1	94	0.0106	174	c.968 others(191): Show c.968+1188_968+1189insCTCCCCCTCCCCTCCCCTCTCCCCTCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCTCCCCTCCCC TCCCCTCTCCCCTCCCCTCCCTCCCCTCCCCTCTCCCCTCCCCTCCCCCC TCCCCTCTCCCCTCCATTCTCCCCTCCCCTCCCCTCCCTTCCCCTC	TMEM132D	ENSG00000151952.16	transcript	ENST00000422113.7	protein_coding	2/8			chr12	TogoVar
TMPRSS2_chr21_41459305_41513158	41474515	G G	GTGAGGGA others(167): Show GTGAGGGAGTGAAGGCATGATTGAGGGGGTGAAGGGGTGAGTGAGGGGGT GACTGAGGGGTGAAGGGGGGAGTGAGGAGGAGAGTGAGGGGGTGAAGGCA TGAGTGAGGGGGTGAATGGGTGAGAGACGGGGTGAGTGAGGGGTGAAGGG ATGAATGAGGGGGTAAGTAAGGGGT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	382	0.0026	174	c.728 others(191): Show c.728-1020_728-1019insACCCCTTACTTACCCCCTCATTCATCCC TTCACCCCTCACTCACCCCGTCTCTCACCCATTCACCCCCTCACTCATGC CTTCACCCCCTCACTCTCCTCCTCACTCCCCCCTTCACCCCTCAGTCACC CCCTCACTCACCCCTTCACCCCCTCAATCATGCCTTCACTCCCTCA	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TRAF6_chr11_36478769_36515272	36507587	G G	GTGTATAC others(167): Show GTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTACAC ATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGTAC ACATGTGTATACGTATACATGTGTACACATGTGTATACGTATACATGTGT ACACATGTATGTGTATATATGTATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	388	0.0026	174	c.-23 others(191): Show c.-23+2460_-23+2461insTATACATATATACACATACATGTGTACA CATGTATACGTATACACATGTGTACACATGTATACGTATACACATGTGTA CACATGTATACGTATACACATGTGTACACATGTATACGTATACACATGTG TACACATGTATACGTATACACATGTGTACACATGTATACGTATACA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRIM4_chr7_99885403_99924530	99887942	A A	ACCCCCCA others(167): Show ACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GAGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGGCGGCTGGCCGGGCGGGGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0077 a0001c0002t0001g0077	1	322	0.0031	174	c.42 others(185): Show c.4220_*4221insCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		2460		chr7	TogoVar
TRIM4_chr7_99885403_99924530	99887942	A A	ACCCCCCA others(167): Show ACCCCCCACCTCCCTCCCGGATGGGGCGGCTGGCCGGGCAGAGGGGCTCC TCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGAC GAGGCGGCTGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACG GGTCGGCTGGCCGGGCGGGGGGCTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02809.hp2 HG02970.hp2 others(1): Show HG02615.hp1 HG02809.hp2 HG02970.hp2 HG06807.hp2	a0001 a0006 a0001 a0006	a0001c0003 a0006c0008 a0001c0003 a0006c0008	a0001c0003t0009 a0006c0008t0006 a0001c0003t0009 a0006c0008t0006	a0001c0003t0009g0053 a0006c0008t0006g0026 a0006c0008t0006g0052 a0001c0003t0009g0053 a0006c0008t0006g0026 a0006c0008t0006g0052	4	322	0.0124	174	c.42 others(185): Show c.4220_*4221insCAGCCCCCCGCCCGGCCAGCCGACCCGTCCGGGA GGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCTCGTCCGGGAG GTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCT CTGCCCGGCCAGCCGCCCCATCCGGGAGGGAGGTGGGGGG	TRIM4	ENSG00000146833.16	transcript	ENST00000349062.7	protein_coding		2460		chr7	TogoVar
TRPC4AP_chr20_34997404_35097807	35097495	A A	ATATACAT others(167): Show ATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATAC ATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATAC ACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGT GTGTATATACATATACACGCGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0136 a0001c0001t0003g0136	1	334	0.0030	174	c.-47 others(185): Show c.-4715_-4714insCACACGCGTGTATATGTATATACACACGCGTGTA TATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTA TATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACA CACGCGTGTATATGTATATACACACGCGTGTATATGTATA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4689		chr20	TogoVar
TSHZ2_chr20_52967358_53500330	53204098	G G	GATATACT others(167): Show GATATACTATTATATCATCATATGATGATATGATACTATATCATCATATG ATGATATGATACTATATCATCATATGATGATATGATACTATATCATCATA TGATGATATGATACTATATCATCATATGATGATATGATACTATATCATCA TATGATGATATGATACTATATCATC	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	174	0.0058	174	c.41- others(191): Show c.41-49397_41-49396insACTATTATATCATCATATGATGATATGA TACTATATCATCATATGATGATATGATACTATATCATCATATGATGATAT GATACTATATCATCATATGATGATATGATACTATATCATCATATGATGAT ATGATACTATATCATCATATGATGATATGATACTATATCATCATAT	TSHZ2	ENSG00000182463.17	transcript	ENST00000371497.10	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr20	TogoVar
TTC7B_chr14_90519564_90821430	90797290	T T	TAAAAATA others(167): Show TAAAAATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp1 HG02071.hp1 others(3): Show HG01175.hp2 HG01257.hp1 HG02071.hp1 HG02280.hp2 HG02738.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0080 a0001c0003t0014 a0001c0004t0065 others(3): Show a0001c0001t0080 a0001c0003t0014 a0001c0004t0065 a0001c0004t0118 a0001c0006t0008 a0001c0007t0001	a0001c0001t0080g0061 a0001c0003t0014g0189 a0001c0004t0065g0069 others(3): Show a0001c0001t0080g0061 a0001c0003t0014g0189 a0001c0004t0065g0069 a0001c0004t0118g0009 a0001c0006t0008g0186 a0001c0007t0001g0078	6	200	0.0300	174	c.122 others(193): Show c.122-10963_122-10962insTTTTTTTTTTTGAGACGGAGTCTCGC TCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGC TCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCT GGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTTT	TTC7B	ENSG00000165914.15	transcript	ENST00000328459.11	protein_coding	1/19			chr14	TogoVar

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