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
SPIRE2_chr16_89823475_89876319	89843698	G G	GAGACAGA others(279): Show GAGACAGAGTCTCGCTTTGTTGCCCAGGCTGGAATGCAGTGGCGTGATCT AGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCA GCCTCTGGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCCAGCTAAT TTTTGTATTTTTAGTAGAGACGGGGTTTCGCCATGTTGGCCAGGATGGTC TCACTCTCAGGACCTTTTGATCCACCCACCTTGGCCTCCCAAAGTGCTGG GATTACAGGCATCAGTCACTGTGCCTGGCTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	48	0.0208	286	c.245 others(303): Show c.245-1624_245-1623insAGACAGAGTCTCGCTTTGTTGCCCAGGC TGGAATGCAGTGGCGTGATCTAGGCTCACTGCAACCTCCGCCTCCCAGGT TCAAGCAATTCTCCTGCCTCAGCCTCTGGAGTAGCTGGGATTACAGGCAC CTGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTC GCCATGTTGGCCAGGATGGTCTCACTCTCAGGACCTTTTGATCCACCCAC CTTGGCCTCCCAAAGTGCTGGGATTACAGGCATCAGTCACTGTGCCTGGC TTTTTTTT	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	1/14			chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(279): Show AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAG GGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGG GAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0082 a0003c0003t0002g0082	1	6	0.1667	286	c.138 others(305): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC CTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(279): Show AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGA GGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGG GGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0095 a0003c0003t0001g0095	1	6	0.1667	286	c.138 others(305): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT CCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCC TCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(279): Show AGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGGAGGGGAGG GGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGGGGAGGGGAGGG GAGGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0140 a0003c0003t0001g0140	1	6	0.1667	286	c.138 others(305): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCCTCCCCTCC CCTCCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCC TCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTC CCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCC TCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar
SRXN1_chr20_641615_658200	642070	G G	GGGGGGCC others(279): Show GGGGGGCCCAGCGGGGGTGGGGTTGCCTGGGGGGGGAGGCCCAGCGGGGG TGGAGTTGCCTGGGGGGGGGGAGGCCCAGCGGGGGTGGAGTTGCCTGGGG GGGGGTGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGCCCAGCGGGGGTG GAGTTGCCTGTGGGGGGGGGGGCCCAGCGGGGGTGGAGTTGCCTGGGGGG GGGCCCAGCGGGGGTGGAGTTGCCTGGGGGGGGGGCCCAGCGGGGGTGGG GTTGCCTGGGGGGGGCCCAGCGGGGGTGGAGTTGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0122 a0001c0001t0004g0122	1	412	0.0024	286	c.66 others(297): Show c.6643_*6644insAGGCAACTCCACCCCCGCTGGGCCCCCCCCAGGC AACCCCACCCCCGCTGGGCCCCCCCCCCAGGCAACTCCACCCCCGCTGGG CCCCCCCCCAGGCAACTCCACCCCCGCTGGGCCCCCCCCCCCACAGGCAA CTCCACCCCCGCTGGGCCCCCCCCAGGCAACTCCACCCCCGCTGGGCACC CCCCCCCAGGCAACTCCACCCCCGCTGGGCCTCCCCCCCCCCAGGCAACT CCACCCCCGCTGGGCCTCCCCCCCCAGGCAACCCCACCCCCGCTGGGCCC CC	SRXN1	ENSG00000271303.2	transcript	ENST00000381962.4	protein_coding		4544		chr20	TogoVar
STK32C_chr10_132202492_132312950	132265137	T T	TGAGGTGG others(279): Show TGAGGTGGGCTCTGGGGGTGCCGCAAGGGCAGTGAGGTGGGCTCTGGGGG AGCTGCCAGGGCGGCGAGGTGGGCTCTGGGGGAGCCGCAAGGGCAGTGAG GTGGGCTCTGGGGGAGCTGCCAGGGCGGCGAGGTGGCTCTGGGGGAGCCG CAAGGGCGGTGAGGTGGGCTCTGGGGGAGCTGCCAGGGCGGCGAGGTGGC TCTGGGGGAGCCGCAAGGGCAGTGAGGTGGGCTCTGGGGGTGCCTCAAGG GCGGTGAGGTGGGCTCTGGGGGAGCCGCCAGGGCGGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02886.hp2 HG02717.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0011 a0001c0001 a0001c0011	a0001c0001t0004 a0001c0011t0006 a0001c0001t0004 a0001c0011t0006	a0001c0001t0004g0027 a0001c0011t0006g0005 a0001c0001t0004g0027 a0001c0011t0006g0005	2	366	0.0055	286	c.263 others(305): Show c.263-19183_263-19182insGCCGCCCTGGCGGCTCCCCCAGAGCC CACCTCACCGCCCTTGAGGCACCCCCAGAGCCCACCTCACTGCCCTTGCG GCTCCCCCAGAGCCACCTCGCCGCCCTGGCAGCTCCCCCAGAGCCCACCT CACCGCCCTTGCGGCTCCCCCAGAGCCACCTCGCCGCCCTGGCAGCTCCC CCAGAGCCCACCTCACTGCCCTTGCGGCTCCCCCAGAGCCCACCTCGCCG CCCTGGCAGCTCCCCCAGAGCCCACCTCACTGCCCTTGCGGCACCCCCAG AGCCCACCTC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
SUFU_chr10_102498972_102638535	102637656	G G	GATTATAA others(279): Show GATTATAAAATATAATTATATATTATATATGATTATAAATATAATTATAT ATTATATATGATTATAAAATATAATTATATATATTATATATGATTATAAA ATATAATTATATATATTATATATGATTATAAATATAATTATATATTATAT ATGATTATAAATATAATTATATATGATTATAAAATATAATTATATATGAT TATAAAATATAATTATATATGATTATAAAATATAATTATATATGATTATA AAATATAATTATATATGATTATAAAATATAATTATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	9	0.1111	286	c.75 others(297): Show c.7501_*7502insATTATAAAATATAATTATATATTATATATGATTA TAAATATAATTATATATTATATATGATTATAAAATATAATTATATATATT ATATATGATTATAAAATATAATTATATATATTATATATGATTATAAATAT AATTATATATTATATATGATTATAAATATAATTATATATGATTATAAAAT ATAATTATATATGATTATAAAATATAATTATATATGATTATAAAATATAA TTATATATGATTATAAAATATAATTATATATGATTATAAAATATAATTAT AT	SUFU	ENSG00000107882.12	transcript	ENST00000369902.8	protein_coding		4122		chr10	TogoVar
SUMF1_chr3_4356146_4472269	4456822	G G	GTATATAC others(279): Show GTATATACACGTGTATATATATACGTGTATATATACACGTGTATATATAT ACGTGTGTGTATATATACACGTGTATATATATACGTGTGTGTATATATAC ACACGTGTATATATATACACGTGTGTATATATACACGTGTATATATATAC GTGTGTGTATATATACACGTGTATATATATACACGTGTGTATATATACAC GTGTATATATATACGTGTGTGTATATATACACGTGTATATATATACGTGT GTGTATATATACACGTGTATATATATACGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0254 a0001c0001t0002g0254	1	87	0.0115	286	c.271 others(303): Show c.271-3774_271-3773insTACACACACGTATATATATACACGTGTA TATATACACACACGTATATATATACACGTGTATATATACACACACGTATA TATATACACGTGTATATATACACACGTGTATATATATACACGTGTATATA TACACACACGTATATATATACACGTGTATATATACACACGTGTATATATA TACACGTGTGTATATATACACACACGTATATATATACACGTGTATATATA CACACACGTATATATATACACGTGTATATATACACGTATATATATACACG TGTATATA	SUMF1	ENSG00000144455.14	transcript	ENST00000272902.10	protein_coding	1/8			chr3	TogoVar
SYNPR_chr3_63273308_63621924	63313900	C C	CATATATA others(279): Show CATATATATATCCATATATATATATCCATATATATATCCATATATATATA TCCATATATATATCCATATATATATATCCATATATATATCCATATATATA TATCCATATATATATCCATATATATATATCCATATATATATCCATATATA TATATATCCATATATATATATATCCATATATATATATATCCATATATATA TATCCATATATATATATATCCATATATATATATCCATATATATATATATC CATATATATATATATCCATATATATATATATCCATAT	intron_variant intron_variant	MODIFIER	NA18952.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0010 a0001c0001t0003g0010	1	193	0.0052	286	c.84+ others(303): Show c.84+35182_84+35183insCCATATATATATCCATATATATATATCC ATATATATATCCATATATATATATCCATATATATATCCATATATATATAT CCATATATATATCCATATATATATATCCATATATATATCCATATATATAT ATATCCATATATATATATATCCATATATATATATATCCATATATATATAT CCATATATATATATATCCATATATATATATCCATATATATATATATCCAT ATATATATATATCCATATATATATATATCCATATATATATATATCCATAT ATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar
TBC1D22A_chr22_46757650_47180693	46939060	G G	GGAGACAC others(279): Show GGAGACACCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCT CGGCTCAATGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGCGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGT CTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0021 a0001c0001t0004g0021	1	94	0.0106	286	c.101 others(307): Show c.1015+26886_1015+26887insTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAG TGGCGCAATCTCGGCTCAATGCAAGCTCCGCTTCCCGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCGC GCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTA GCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCGA GACACCATTTTT	TBC1D22A	ENSG00000054611.14	transcript	ENST00000337137.9	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr22	TogoVar
TCF25_chr16_89868592_89916379	89907832	T T	TCCCAGCT others(279): Show TCCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACCTCCAGCTCCAACCTC CCTCCTCCCTCCTTCCAGTTCCCACCTCCCAGCTCCCACCTCCCACCTCC CAGCACCCACCTCTCTCTCCCTCCTCCCAGCTCCTGGCTCCCACCTCCCA GTTTCCACCTCCCAGCTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCAC CTCCCAGCTCCCACCTCCCAGCTCCCACCTCTCTCCTCCCTCCTCCCAGC TCCCGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTC	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	298	0.0034	286	c.179 others(303): Show c.1799+511_1799+512insCCAGCTCCCGGCTCCCACCTCCCAGTTT CCACCTCCAGCTCCAACCTCCCTCCTCCCTCCTTCCAGTTCCCACCTCCC AGCTCCCACCTCCCACCTCCCAGCACCCACCTCTCTCTCCCTCCTCCCAG CTCCTGGCTCCCACCTCCCAGTTTCCACCTCCCAGCTCCAACCTCCCTCC TCCCTCCTTCCAGTTCCCACCTCCCAGCTCCCACCTCCCAGCTCCCACCT CTCTCCTCCCTCCTCCCAGCTCCCGGCTCCCACCTCCCAGTTTCCACCTC CCAGCTCC	TCF25	ENSG00000141002.20	transcript	ENST00000263346.13	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
TENT5A_chr6_81740730_81757681	81740738	A A	AACATATT others(279): Show AACATATTATATACTATATAATATGTATCATATTATATACTATATAATAT GTATCATATTATATACTATATAATATGTATCATATTATATACTATATAAT ATGTATCATATTATATACTATATAATATGTATCATATTATATACTATATA ATATGTATCATATTATATACTATATAATATGTATCATATTATATACTATA TAATATGTATCATATTATATACTATATAATATGTATCATATTATATACTA TATAATATGTATCATATTATATACTATATAATATGTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0024 a0001c0001t0010g0024	1	432	0.0023	286	c.89 others(297): Show c.8956_*8957insAACATATTATATAGTATATAATATGATACATATT ATATAGTATATAATATGATACATATTATATAGTATATAATATGATACATA TTATATAGTATATAATATGATACATATTATATAGTATATAATATGATACA TATTATATAGTATATAATATGATACATATTATATAGTATATAATATGATA CATATTATATAGTATATAATATGATACATATTATATAGTATATAATATGA TACATATTATATAGTATATAATATGATACATATTATATAGTATATAATAT GT	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4991		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740739	A A	ACATATTA others(279): Show ACATATTATATAGTATATAATATGTATCATATTATATAGTATATAATATG TATCATATTATATAGTATATAATATGTATCATATTATATAGTATATAATA TGTATCATATTATATAGTATATAATATGTATCATATTATATACTATATAA TATGTATCATATTATATACTATATAATATGTATCATATTATATACTATAT AATATGTATCATATTATATACTATATAATATGTATCATATTATATACTAT ATAATATGTATCATATTATATACTATATAATATGTAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0035 a0001c0001t0017g0035	1	174	0.0057	286	c.89 others(297): Show c.8955_*8956insATACATATTATATAGTATATAATATGATACATAT TATATAGTATATAATATGATACATATTATATAGTATATAATATGATACAT ATTATATAGTATATAATATGATACATATTATATAGTATATAATATGATAC ATATTATATAGTATATAATATGATACATATTATATACTATATAATATGAT ACATATTATATACTATATAATATGATACATATTATATACTATATAATATG ATACATATTATATACTATATAATATGATACATATTATATACTATATAATA TG	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4990		chr6	TogoVar
TENT5A_chr6_81740730_81757681	81740822	T T	TTATATAC others(279): Show TTATATACTATATAATATGTATCATATTATATACTATATAATATGTATCA TATTATATACTATATAATATGTATCATATTATATACTATATAATATGTAT CATATTATATACTATATAATATGTATCATATTATATACTATATAATATGT ATCATATTATATACTATATAATATGTATCATATTATATACTATATAATAT GTATCATATTATATACTATATAATATGTATCATATTATATACTATATAAT ATGTATCATATTATATACTATATAATATGTATCATAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0063 a0001c0001t0036g0063	1	442	0.0023	286	c.88 others(297): Show c.8872_*8873insCTATGATACATATTATATAGTATATAATATGATA CATATTATATAGTATATAATATGATACATATTATATAGTATATAATATGA TACATATTATATAGTATATAATATGATACATATTATATAGTATATAATAT GATACATATTATATAGTATATAATATGATACATATTATATAGTATATAAT ATGATACATATTATATAGTATATAATATGATACATATTATATAGTATATA ATATGATACATATTATATAGTATATAATATGATACATATTATATAGTATA TA	TENT5A	ENSG00000112773.16	transcript	ENST00000320172.11	protein_coding		4907		chr6	TogoVar
TGM6_chr20_2375901_2437753	2391072	A A	AGTGATCT others(279): Show AGTGATCTTAGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCAC TGCAAGCTGCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCA AGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTA TTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCT CCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02293.hp2 others(6): Show HG01243.hp1 HG02258.hp2 HG02293.hp2 HG02572.hp1 HG02809.hp1 HG02970.hp2 HG03130.hp2 HG03139.hp1 NA18522.hp2	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0001 a0001c0004 a0001c0008 others(2): Show a0001c0001 a0001c0004 a0001c0008 a0003c0007 a0007c0035	a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0004t0001 a0001c0008t0001 a0003c0007t0001 a0007c0035t0001	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0168 others(6): Show a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0002g0168 a0001c0001t0002g0170 a0001c0004t0001g0171 a0001c0004t0001g0190 a0001c0008t0001g0167 a0003c0007t0001g0169 a0007c0035t0001g0166	9	398	0.0226	286	c.8-3 others(299): Show c.8-3365_8-3364insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTGCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGGTGATCTTAGA TTTT	TGM6	ENSG00000166948.10	transcript	ENST00000202625.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
THBS2_chr6_169210785_169258846	169242912	C C	CACCTTCC others(279): Show CACCTTCCCACATTCCCACCTTCCCACATTCCCACCTTCCCACCACTCCC ACCTTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACCTTCCCA CATTCCCACCTTCCCACCTTCCCACCTTCCTACCGCTCCCACCTTCCCAC CTTCCCACATTCCCACCTTCCCACCTTCCCACTGCTCCCACCTTCCCACC TTCCCACATTCCCACCTTCCCACATTCCCACCTTCCCACCTTCCCACTGC TCCCACCTTCCCACCTTCCCACCACTCCTACCTTCCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02965.hp1 HG03130.hp2 others(1): Show HG01167.hp2 HG02965.hp1 HG03130.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0015 a0001c0002 a0001c0015	a0001c0002t0002 a0001c0015t0015 a0001c0002t0002 a0001c0015t0015	a0001c0002t0002g0169 a0001c0015t0015g0017 a0001c0015t0015g0343 a0001c0002t0002g0169 a0001c0015t0015g0017 a0001c0015t0015g0343	4	394	0.0102	286	c.695 others(301): Show c.695-955_695-954insAGGAAGGTAGGAGTGGTGGGAAGGTGGGAA GGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAAT GTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTGGGAATG TGGGAAGGTGGGAAGGTGGGAGCGGTAGGAAGGTGGGAAGGTGGGAAGGT GGGAATGTGGGAAGGTGGGAAGGTGGGAGCAGTGGGAAGGTGGGAAGGTG GGAAGGTGGGAGTGGTGGGAAGGTGGGAATGTGGGAAGGTGGGAATGTGG GAAGGT	THBS2	ENSG00000186340.17	transcript	ENST00000617924.6	protein_coding	4/21			chr6	TogoVar
TJAP1_chr6_43472570_43511554	43502084	T T	TCTCTCTC others(279): Show TCTCTCTCTCTCTGTCTCTCTCCTTTCATAGGAGGTTAGCTGGAAGATGC CTTAGAGATCATCTAATTCCTATTAAAAAACTGGATAAGTTCTGCAGGTG TGGGAATGCGGGGCCACACACACACACACACACACACACTCTCTCTCTCT CTCTCTCTCTCTCTCTCCTTTCATAGGAGGTTAGCTGGAAGATGCCTTAG AGATCATCTAATTCTTATTAGAAAACTGGATAAGTTCTGCAGGTGTGGGA ATGCGGGGACACACACACACACACACACATACACACA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0037 a0001c0001t0004g0037	1	280	0.0036	286	c.291 others(301): Show c.291-187_291-186insGTCTCTCTCCTTTCATAGGAGGTTAGCTGG AAGATGCCTTAGAGATCATCTAATTCCTATTAAAAAACTGGATAAGTTCT GCAGGTGTGGGAATGCGGGGCCACACACACACACACACACACACACTCTC TCTCTCTCTCTCTCTCTCTCTCTCCTTTCATAGGAGGTTAGCTGGAAGAT GCCTTAGAGATCATCTAATTCTTATTAGAAAACTGGATAAGTTCTGCAGG TGTGGGAATGCGGGGACACACACACACACACACACATACACACACTCTCT CTCTCT	TJAP1	ENSG00000137221.14	transcript	ENST00000372449.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TJAP1_chr6_43472570_43511554	43502084	T T	TCTCTCTC others(279): Show TCTCTCTCTCTGTCTCTCTCCTTTCATAGGAGGTTAGCTGGAAGATGCCT TAGAGATCATCTAATTCCTATTAAAAAACTGGATAAGTTCTGCAGGTGTG GGAATGCGGGGCCACACACACACACACACACACACACTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCCTTTCATAGGAGGTTAGCTGGAAGATGCCTTAG AGATCATCTAATTCTTATTAGAAAACTGGATAAGTTCTGCAGGTGTGGGA ATGCGGGGACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp1 HG03834.hp1 HG01515.hp1 HG01517.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0040 a0001c0001t0004g0012 a0001c0001t0004g0040	3	282	0.0106	286	c.291 others(301): Show c.291-189_291-188insGTCTCTCTCCTTTCATAGGAGGTTAGCTGG AAGATGCCTTAGAGATCATCTAATTCCTATTAAAAAACTGGATAAGTTCT GCAGGTGTGGGAATGCGGGGCCACACACACACACACACACACACACTCTC TCTCTCTCTCTCTCTCTCTCTCTCTCCTTTCATAGGAGGTTAGCTGGAAG ATGCCTTAGAGATCATCTAATTCTTATTAGAAAACTGGATAAGTTCTGCA GGTGTGGGAATGCGGGGACACACACACACACACACACACACACACACTCT CTCTCT	TJAP1	ENSG00000137221.14	transcript	ENST00000372449.6	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
TMC1_chr9_72516608_72843297	72835691	T T	TGTTACAA others(279): Show TGTTACAAAAAAGGCCGAGGCGGGTGGATCATGAGGTCGGGAGATCGAGA CCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCTGA GATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTC CGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0032 a0001c0003t0032	a0001c0003t0032g0095 a0001c0003t0032g0095	1	173	0.0058	286	c.226 others(303): Show c.2261-248_2261-247insGCCGAGGCGGGTGGATCATGAGGTCGGG AGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCA GTGAGCTGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGA GCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGTTA CAAAAAAG	TMC1	ENSG00000165091.18	transcript	ENST00000297784.10	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr9	TogoVar
TMEM120B_chr12_121707752_121787068	121747269	G G	GCTGGGGT others(279): Show GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAG AAGGTGGGAGGCTGGGGTAAAAGGTGGGAGGCTGGGGTAGAAGGTGGGAG GCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGGGT AGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGG AGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGGAGGCTGGG GTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCA	intron_variant intron_variant	MODIFIER	HG02074.hp2 NA18940.hp2 NA19060.hp1 HG02074.hp2 NA18940.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0105 a0001c0001t0001 a0001c0001t0008 a0001c0001t0105	a0001c0001t0001g0045 a0001c0001t0008g0044 a0001c0001t0105g0048 a0001c0001t0001g0045 a0001c0001t0008g0044 a0001c0001t0105g0048	3	301	0.0100	286	c.189 others(303): Show c.189-1044_189-1043insTGGGAGGCTGGGGTAGAAGGTGGGAGGC TGGGGTAGAAGGTGGGAGGCTGGGGTAAAAGGTGGGAGGCTGGGGTAGAA GGTGGGAGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGC ACTGGGGTAGAAGGCGGGAGGCTGGGGTAGAAGGCGGGAGGCTGGGGTAG AAGGCGGGAGTCTGGGGTAGAAGGCGGGAGGCACTGGGGTAGAAGGTGGG AGGCTGGGGTAGAAGGTGGGAGGCTGGGGTAGAAGGTGGGAGGCACTGGG GTAGAAGG	TMEM120B	ENSG00000188735.13	transcript	ENST00000449592.7	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr12	TogoVar
TMEM181_chr6_158555091_158640429	158566552	G G	GGTGATAC others(279): Show GGTGATACGGTGAGGGAGGTGATGGTGAGCTCATGAGGGAGGTGATGGGG TGAGGGAGGTGATGGGGTGAAGGAGATGATGGTGAAGAGTTGAGGGAGGT GATGGGGTGAGGGAAGTGATACGGTGAGGGAGGTGATGGTGAGGAGTTGA GGGAGGTGATGGGGTGGAGGGAGGTGATACGGTGAGGGAGGTGATGGTGA GCTCATGAGGGAGGTGATGGGGTGAGGGAGGTGATGGGGTGAAGGAGATG ATGGTGAAGAGTTGAGGGAGGTGATGGGGTGAGGGAA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0235 a0001c0001t0001g0235	1	105	0.0095	286	c.8+6 others(299): Show c.8+6348_8+6349insCTCATGAGGGAGGTGATGGGGTGAGGGAGGTG ATGGGGTGAAGGAGATGATGGTGAAGAGTTGAGGGAGGTGATGGGGTGAG GGAAGTGATACGGTGAGGGAGGTGATGGTGAGGAGTTGAGGGAGGTGATG GGGTGGAGGGAGGTGATACGGTGAGGGAGGTGATGGTGAGCTCATGAGGG AGGTGATGGGGTGAGGGAGGTGATGGGGTGAAGGAGATGATGGTGAAGAG TTGAGGGAGGTGATGGGGTGAGGGAAGTGATACGGTGAGGGAGGTGATGG TGAG	TMEM181	ENSG00000146433.10	transcript	ENST00000684151.1	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
TNNT1_chr19_55127698_55154206	55134791	A A	AGGGGAGG others(279): Show AGGGGAGGGGAGAAGAGGGGAGGAGAGCGGAGAAGAGGGGAGGAGAGGGG AGGGCAGAAGACGGGAGGGGAGAAGAGGGGAGGAGAGGGGATGGGAAAAT AGGGGAGGGGAGGGGAGGAGAGGGGAGGAGAGGGGAGGAGAGAAGAGGGG AGGGGAGGGGAGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGGGG AGGAAAGGGGAGGGGAGGAGAGAAGAGGGGAGGGGAGGGGAGGAAAGGGG AGGAAAGGGGAGGGGAGAAGAGGGGAGGGGAGAAGAG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(28): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00642.hp1 HG00673.hp1 HG00733.hp1 HG01106.hp2 HG01358.hp1 HG01928.hp2 HG01975.hp2 HG02273.hp1 HG02683.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp2 NA18943.hp1 NA18947.hp2 NA18950.hp2 NA19007.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0002 a0001c0001t0003 a0005c0005t0002 a0001c0001t0002 a0001c0001t0003 a0005c0005t0002	a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0078 others(23): Show a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0089 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0201 a0001c0001t0002g0210 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0241 a0001c0001t0002g0245 a0001c0001t0003g0031 a0005c0005t0002g0218	31	127	0.2441	286	c.612 others(301): Show c.612-588_612-587insCTCTTCTCCCCTCCCCTCTTCTCCCCTCCC CTTTCCTCCCCTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCC CTTTCCTCCCCTCCCCTCCCCTCTTCTCTCCTCCCCTCCCCTTTCCTCCC CTCCCCTCCCCTCTTCTCTCCTCCCCTCTCCTCCCCTCTCCTCCCCTCCC CTCCCCTATTTTCCCATCCCCTCTCCTCCCCTCTTCTCCCCTCCCGTCTT CTGCCCTCCCCTCTCCTCCCCTCTTCTCCGCTCTCCTCCCCTCTTCTCCC CTCCCC	TNNT1	ENSG00000105048.18	transcript	ENST00000588981.6	protein_coding	11/13			chr19	TogoVar
TPSB2_chr16_1223336_1235184	1231355	C C	CCCCAGCT others(279): Show CCCCAGCTCCAGCCCAGCTCCCCATGGACTAGTCCCAGCCCCAGCCCAGC TCCCCATGGTCTCACCCCCAGCCCCAGCCCAGCTCCCCATGGACTAGTCC CATCCCCCGGCCCCAGCTCCCCATGGTCTCACCCCCAGCCCCAGCCCAGC TCCCCATGGTCTCACCCCCAGCCCCAGCCCAGCTCCCCATGGACTCACCC CCAGCCCCAGCCCAGCTCCCCATGGACTAGTCGCAGCCCCCGGCCCCAGC TCCCCATGGTCTCACCCCCAGCTCCCCATGGACTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00639.hp2 others(73): Show HG00140.hp1 HG00423.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01346.hp1 HG01891.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp1 HG02055.hp2 HG02056.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02965.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03942.hp2 HG04204.hp2 HG04228.hp1 HG06807.hp1 NA18906.hp2 NA18943.hp2 NA18944.hp2 NA18959.hp1 NA18962.hp1 NA18962.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp2 NA18997.hp1 NA19003.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19057.hp1 NA19066.hp1 NA19081.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0013 a0014	a0001c0001 a0002c0002 a0002c0008 others(6): Show a0001c0001 a0002c0002 a0002c0008 a0002c0009 a0003c0003 a0005c0005 a0005c0007 a0013c0027 a0014c0028	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 others(7): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0002c0008t0003 a0002c0009t0002 a0003c0003t0002 a0005c0005t0005 a0005c0007t0005 a0013c0027t0002 a0014c0028t0002	a0001c0001t0001g0001 a0002c0002t0002g0002 a0002c0002t0002g0016 others(13): Show a0001c0001t0001g0001 a0002c0002t0002g0002 a0002c0002t0002g0016 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0003g0005 a0002c0002t0003g0032 a0002c0008t0003g0008 a0002c0009t0002g0017 a0002c0009t0002g0044 a0002c0009t0002g0046 a0003c0003t0002g0041 a0005c0005t0005g0021 a0005c0007t0005g0007 a0013c0027t0002g0036 a0014c0028t0002g0045	76	331	0.2296	286	c.-11 others(297): Show c.-1195_-1194insACTAGTCCATGGGGAGCTGGGGGTGAGACCATGG GGAGCTGGGGCCGGGGGCTGCGACTAGTCCATGGGGAGCTGGGCTGGGGC TGGGGGTGAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGACCATGG GGAGCTGGGCTGGGGCTGGGGGTGAGACCATGGGGAGCTGGGGCCGGGGG ATGGGACTAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGACCATGG GGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGAGCTG GG	TPSB2	ENSG00000197253.14	transcript	ENST00000606293.5	protein_coding		1172		chr16	TogoVar
TPSB2_chr16_1223336_1235184	1231355	C C	CCCCAGCT others(279): Show CCCCAGCTCCAGCCCAGCTTCCCATGGACTAGTCCCAGCCCCAGCCCAGC TCCCCATGGTCTCACCCCCAGCCCCAGCCCAGCTCCCCATGGACTAGTCC CATCCCCCGGCCCCAGCTCCCCATGGTCTCACCCCCAGCCCCAGCCCAGC TCCCCATGGTCTCACCCCCAGCCCCAGCCCAGCTCCCCATGGACTCACCC CCAGCCCCAGCCCAGCTCCCCATGGACTAGTCGCAGCCCCCGGCCCCAGC TCCCCATGGTCTCACCCCCAGCTCCCCATGGACTAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0043 a0002c0002t0010g0043	1	256	0.0039	286	c.-11 others(297): Show c.-1195_-1194insACTAGTCCATGGGGAGCTGGGGGTGAGACCATGG GGAGCTGGGGCCGGGGGCTGCGACTAGTCCATGGGGAGCTGGGCTGGGGC TGGGGGTGAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGACCATGG GGAGCTGGGCTGGGGCTGGGGGTGAGACCATGGGGAGCTGGGGCCGGGGG ATGGGACTAGTCCATGGGGAGCTGGGCTGGGGCTGGGGGTGAGACCATGG GGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGAAGCTGGGCTGGAGCTG GG	TPSB2	ENSG00000197253.14	transcript	ENST00000606293.5	protein_coding		1172		chr16	TogoVar
TPSB2_chr16_1223336_1235184	1231493	G G	GCTCCCCA others(279): Show GCTCCCCATGGACTAGTCCCAGCCCCAGCCCAGCTCCCCATGGTCTCACC CCCAGCCCCAGCCCAGCTCCCCATGGACTAGTCCCAGCCCCCGGCCCCAG CTCCCCATGGTCTCACCCCCAGCTCCAGCCCAGCTCCCCATGGACTAGTC CCAGCCCCAGCCCAGCTCCCCATGGTCTCACCCCCAGCCCCAGCCCAGCT CCCCATGGACTAGTCCCAGCCCCCGGCCCCAGCTCCCCATGGTCTCACCC CCAGCCCCAGCCCAGCTCCCCATGGACTAGTCCCAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp2 HG01167.hp2 HG01169.hp1 others(13): Show HG00621.hp2 HG01167.hp2 HG01169.hp1 HG02027.hp1 HG02055.hp1 HG02074.hp1 HG02074.hp2 HG02132.hp2 HG02602.hp2 HG03195.hp1 HG03492.hp1 NA18943.hp1 NA18964.hp2 NA18982.hp1 NA19004.hp2 NA19011.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0001c0012 a0017c0029 a0001c0001 a0001c0012 a0017c0029	a0001c0001t0004 a0001c0012t0004 a0017c0029t0004 a0001c0001t0004 a0001c0012t0004 a0017c0029t0004	a0001c0001t0004g0006 a0001c0001t0004g0020 a0001c0001t0004g0027 others(3): Show a0001c0001t0004g0006 a0001c0001t0004g0020 a0001c0001t0004g0027 a0001c0001t0004g0029 a0001c0012t0004g0013 a0017c0029t0004g0030	16	339	0.0472	286	c.-13 others(297): Show c.-1333_-1332insGCTGGGACTAGTCCATGGGGAGCTGGGCTGGGGC TGGGGGTGAGACCATGGGGAGCTGGGGCCGGGGGCTGGGACTAGTCCATG GGGAGCTGGGCTGGGGCTGGGGGTGAGACCATGGGGAGCTGGGCTGGGGC TGGGACTAGTCCATGGGGAGCTGGGCTGGAGCTGGGGGTGAGACCATGGG GAGCTGGGGCCGGGGGCTGGGACTAGTCCATGGGGAGCTGGGCTGGGGCT GGGGGTGAGACCATGGGGAGCTGGGCTGGGGCTGGGACTAGTCCATGGGG AG	TPSB2	ENSG00000197253.14	transcript	ENST00000606293.5	protein_coding		1310		chr16	TogoVar
TRAF3IP1_chr2_238315518_238405897	238398032	G G	GCGGGGGG others(279): Show GCGGGGGGTAGCAGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAG CAGAGGCGGGGGGTAGCAGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGC AGGAGCAGAGGCAGGGGGTAGCAGGGGGGTAGTAATGGGGAGGGGGCCCT GCAGCAGGAGCAGAGGCAGGGGGTAGCAGGGGGGTAGTAATGGGGAGGGG GCCCTGCAGCAGGAGCAGAGGCGGGGGGTAGCAGGGGGGTAGTAATGGGG AGGGGGCCCTGCAGCAGGAGCAGAGGCAGGGGGTAGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0008 a0003c0004t0008	a0003c0004t0008g0058 a0003c0004t0008g0058	1	330	0.0030	286	c.191 others(303): Show c.1910+353_1910+354insCGGGGGGTAGCAGGGGGGTAGTAATGGG GAGGGGGCCCTGCAGCAGGAGCAGAGGCGGGGGGTAGCAGGGGGGTAGTA ATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGCAGGGGGTAGCAGGGGGG TAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGCAGGGGGTAGCAG GGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGCGGGGGGT AGCAGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGCAG GGGGTAGC	TRAF3IP1	ENSG00000204104.12	transcript	ENST00000373327.5	protein_coding	16/16			chr2	TogoVar
TRAF6_chr11_36478769_36515272	36507212	A A	ATAAATGT others(279): Show ATAAATGTATATATACATTATACATACGTAAATGTATAATGTATATATAC ATTATACATACGTAAATGTATAATGTATATATACATTATACATACGTAAA TGTATAATGTATATATACATTATACATTATACATACGTAAATGTATAATG TATATATACATTATACATTATACATACGTAAATGTATATATGTATATATA CATTATACATACGTAAATGTATATATGTATATATACATTATACATACGTA AATGTATATATGTATATATACATGTATTATACATACG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0083 a0001c0001t0031g0083	1	257	0.0039	286	c.-23 others(303): Show c.-23+2835_-23+2836insCGTATGTATAATACATGTATATATACAT ATATACATTTACGTATGTATAATGTATATATACATATATACATTTACGTA TGTATAATGTATATATACATATATACATTTACGTATGTATAATGTATAAT GTATATATACATTATACATTTACGTATGTATAATGTATAATGTATATATA CATTATACATTTACGTATGTATAATGTATATATACATTATACATTTACGT ATGTATAATGTATATATACATTATACATTTACGTATGTATAATGTATATA TACATTTA	TRAF6	ENSG00000175104.15	transcript	ENST00000526995.6	protein_coding	1/6			chr11	TogoVar
TRPC4AP_chr20_34997404_35097807	35097443	A A	ATATACAT others(279): Show ATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATAC ATATACACGCGTGTGTATATACATATACACGCGTGTGTATATACACATAT ACACGCGTGTGTATATACATATACACGCGTGTGTATATACATATACACGC GTGTGTATATACATATACACGCGTGTGTATATACATATACACGCGTGTGT ATATACATATACACGCGTGTGTATATACATATACACGCGTGTGTATATAC ATATACACGCGTGTGTATATACATATACACGCGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0231 a0001c0001t0003g0231	1	304	0.0033	286	c.-46 others(297): Show c.-4663_-4662insCACACGCGTGTATATGTATATACACACGCGTGTA TATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTA TATACACACGCGTGTATATGTATATACACACGCGTGTATATGTATATACA CACGCGTGTATATGTATATACACACGCGTGTATATGTATATACACACGCG TGTATATGTGTATATACACACGCGTGTATATGTATATACACACGCGTGTA TATGTATATACACACGCGTGTATATGTATATACACACGCGTGTATATGTA TA	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4637		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097556	T T	TATACACA others(279): Show TATACACACATGTGTGTGTATATACATATATACATATACACACATGTGTG TGTATATACATATACACACATGCGTATATACATATACACGCGTGCGTATA TACATATACACGCGTGCGTATATACATATACACGCGTGCGTATATACATA TACACGCGTGCGTATATACATATACACGCGTGCGTATATACATATACACG CGTGCGTATATATACATATACACGCGTGCGTATATATACATATACACGCG TGCGTATATATACATATACACGCGTGCGTATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	245	0.0041	286	c.-47 others(297): Show c.-4776_-4775insGTATATATACGCACGCGTGTATATGTATATATAC GCACGCGTGTATATGTATATATACGCACGCGTGTATATGTATATATACGC ACGCGTGTATATGTATATACGCACGCGTGTATATGTATATACGCACGCGT GTATATGTATATACGCACGCGTGTATATGTATATACGCACGCGTGTATAT GTATATACGCACGCGTGTATATGTATATACGCATGTGTGTATATGTATAT ACACACACATGTGTGTATATGTATATATGTATATACACACACATGTGTGT AT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4750		chr20	TogoVar
TRPC4AP_chr20_34997404_35097807	35097652	C C	CACATACA others(279): Show CACATACACGCGCGCGTATATATACACATACACGCGCGTGTATATACACA TACACGCGCGCGTGTATATACACATACACGCGCGCGTGTATATACACATA CACGCGCGCGTGTATATACACATACACGCGCGCGTGTATATACACATACA CGCGCGCGTGTATATACACATACACGCGCGCGTGTATATACACATACACG CGCGCGTGTATATACACATACACGCGCGCGTGTATATACACATACACGCG CGCGTATACACATATATACACGCGTGCGTATACACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0177 a0001c0001t0002g0177	1	178	0.0056	286	c.-48 others(297): Show c.-4872_-4871insATGTGTATACGCACGCGTGTATATATGTGTATAC GCGCGCGTGTATGTGTATATACACGCGCGCGTGTATGTGTATATACACGC GCGCGTGTATGTGTATATACACGCGCGCGTGTATGTGTATATACACGCGC GCGTGTATGTGTATATACACGCGCGCGTGTATGTGTATATACACGCGCGC GTGTATGTGTATATACACGCGCGCGTGTATGTGTATATACACGCGCGCGT GTATGTGTATATACACGCGCGTGTATGTGTATATATACGCGCGCGTGTAT GT	TRPC4AP	ENSG00000100991.12	transcript	ENST00000252015.3	protein_coding		4846		chr20	TogoVar
TSPAN9_chr12_3072379_3291559	3269533	C C	CGTTCCTG others(279): Show CGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCGTGCA TTCCTGCAGCCTGCCCTCCCTGTGTTCCTGTAGCCTGCCCTCCGTGCGTT CCTGCAGCCTGCCCTCCCTGTGTTCCTGCAGCCTGCCCTCCCTGTGTTCC TGCAGCCTGCCCTCTGTGCGTTCCTGCAGCCTGCCTTCTGTGTTTCTGCA GCCTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCCGTGCGTTCCTGCAGC CTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCTCTGT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0096 a0001c0004t0096	a0001c0004t0096g0055 a0001c0004t0096g0055	1	247	0.0040	286	c.64- others(301): Show c.64-8845_64-8844insCGTGCATTCCTGCAGCCTGCCCTCCCTGTG TTCCTGTAGCCTGCCCTCCGTGCGTTCCTGCAGCCTGCCCTCCCTGTGTT CCTGCAGCCTGCCCTCCCTGTGTTCCTGCAGCCTGCCCTCTGTGCGTTCC TGCAGCCTGCCTTCTGTGTTTCTGCAGCCTGCCCTCTCTGTGTTCCTGCA GCCTGCCCTCCGTGCGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGC CTGCCCTCTCTGTGTTCCTGCAGCCTGCCCTCTCTGTGTTCCTGCAGCCT GCCCTC	TSPAN9	ENSG00000011105.14	transcript	ENST00000011898.10	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATA others(279): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACACATATATGTGTGTGTATACGCATA CACACATATATGTGTGTGTATACGCATACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19004.hp1 NA19088.hp2 NA19004.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0098 a0001c0001t0002g0071 a0001c0001t0002g0098	2	231	0.0087	286	c.-38 others(297): Show c.-3864_-3863insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACACATATATGT GTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACACACAT AT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UBE4A_chr11_118354600_118404211	118355852	C C	CACATATA others(279): Show CACATATATGTGTGTATACGCATACACACACATATGTGTGTGTATACGCA TACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTA TACGCATACACACACATATGTGTGTGTATACGCATACACACACATATGTG TGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACACACA TATGTGTGTGTATACGCATACACACATATATGTGTGTGTATACGCATACA CACACATATATGTGTGTGTATACGCATACACACATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	230	0.0043	286	c.-38 others(297): Show c.-3864_-3863insACATATATGTGTGTATACGCATACACACACATAT GTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCATACACAC ACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTATACGCAT ACACACACATATGTGTGTGTATACGCATACACACACATATGTGTGTGTAT ACGCATACACACACATATGTGTGTGTATACGCATACACACATATATGTGT GTGTATACGCATACACACACATATATGTGTGTGTATACGCATACACACAT AT	UBE4A	ENSG00000110344.10	transcript	ENST00000252108.8	protein_coding		3747		chr11	TogoVar
UNC80_chr2_209766832_210004296	209903533	T T	TTATATAT others(279): Show TTATATATAGTATATATGTAATATATATACTATATATATTATATATAGTA TATATGTAATATATATACTATATATATTATATATAGTATATATGTAATAT ATATACTATATATAGTATATATAGTATATATGTAATATATATACTATATA TAGTATATATGTAATATATATACTATATATAGTATATATGTAATATATAT ACTATATATAGTATATATGTAATATATATACTATATATAGTATATATGTA ATATATACTATATATAGTATATATGTAATATATATAC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0115 a0001c0002t0001g0115	1	91	0.0110	286	c.458 others(305): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATATTATATATAGTATATATGTAATATATATA CTATATATAGTATATATAGTATATATGTAATATATATACTATATATAGTA TATATGTAATATATATACTATATATAGTATATATGTAATATATATACTAT ATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATATA TACTATATATAGTATATATGTAATATATATACTATATATAGTATATATGT AATATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209903533	T T	TTATATAT others(279): Show TTATATATAGTATATATGTAATATATATACTATATATATTATATATAGTA TATATGTAATATATATACTATATATATTATATATAGTATATATGTAATAT ATATACTATATATATTATATATAGTATATATGTAATATATATACTATATA TAGTATATATGTAATATATATACTATATATAGTATATATGTAATATATAT ACTATATATAGTATATATGTAATATATATACTATATATAGTATATATGTA ATATATACTATATATAGTATATATGTAATATATATAC	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19003.hp2 NA18957.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0043 a0001c0001t0004g0162 a0001c0001t0002g0043 a0001c0001t0004g0162	2	92	0.0217	286	c.458 others(305): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATATTATATATAGTATATATGTAATATATATA CTATATATATTATATATAGTATATATGTAATATATATACTATATATAGTA TATATGTAATATATATACTATATATAGTATATATGTAATATATATACTAT ATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATATA TACTATATATAGTATATATGTAATATATATACTATATATAGTATATATGT AATATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209903554	T T	TATATATA others(279): Show TATATATACTATATATATTATATATAGTATATATGTAATATATATACTAT ATATATTATATATAGTATATATGTAATATATATACTATATATATTATATA TAGTATATATGTAATATATATACTATATATAGTATATATGTAATATATAT ACTATATATAGTATATATGTAATATATATATACTATATATAGTATATATG TAATATATATACTATATATAGTATATATGTAATATATACTATATATAGTA TATATGTAATATATATACTATATATAGTATATATGTA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01358.hp2 HG01993.hp2 others(2): Show HG01192.hp2 HG01358.hp2 HG01993.hp2 HG02293.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0002 a0001c0002t0002 a0001c0004t0001 a0001c0001t0002 a0001c0002t0002 a0001c0004t0001	a0001c0001t0002g0060 a0001c0002t0002g0052 a0001c0002t0002g0057 others(2): Show a0001c0001t0002g0060 a0001c0002t0002g0052 a0001c0002t0002g0057 a0001c0002t0002g0059 a0001c0004t0001g0013	5	105	0.0476	286	c.458 others(305): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATATTATATATAGTATATATGTAATATATATA CTATATATATTATATATAGTATATATGTAATATATATACTATATATAGTA TATATGTAATATATATACTATATATAGTATATATGTAATATATATATACT ATATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATA TATACTATATATAGTATATATGTAATATATATACTATATATAGTATATAT GTAATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
VAV2_chr9_133756894_133997324	133827636	G G	GGCATCGC others(279): Show GGCATCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGG CATCGCCACCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCA TCGCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATC GCCAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGC CAGCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCACGGGCATCGCCA GCTACCGCTGCGCCCACTGGGGCTGACCACTGAGCAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0026 a0001c0002t0012g0026	1	158	0.0063	286	c.449 others(303): Show c.449+6635_449+6636insGTGCTCAGTGGTCAGCCCCAGTGGGCGC AGCGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAG CGGTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCG GTAGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCGGT AGCTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCGGTAG GTGGCGATGCCCGTGCTCAGTGGTCAGCCCCAGTGGGCGCAGCGGTAGCT GGCGATGC	VAV2	ENSG00000160293.17	transcript	ENST00000371850.8	protein_coding	4/29			chr9	TogoVar
VCX2_chrX_8164944_8176267	8169372	C C	CCCTCCCT others(279): Show CCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTC TTCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACAC ACCTCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCC TCCCCACACACCACCTCTTCCTCCCTCCCTCCCCACACACCTCTTCCTCC CTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCACACACC TCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0016 a0002c0001t0001g0016	1	110	0.0091	286	c.65 others(295): Show c.659_*660insAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAG AGGTGTGTGGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGA GGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGG AGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		571		chrX	TogoVar
VCX3B_chrX_8459830_8471510	8466683	A A	AGGGAGGG others(279): Show AGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGA GGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGG GGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGA GGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG01069.hp1 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	2	184	0.0109	286	c.30 others(295): Show c.300_*301insGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGGGGGAAGAGGTGGT GTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGT GGGGAGGGAGGGGGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGG TGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGG	VCX3B	ENSG00000205642.11	transcript	ENST00000381032.6	protein_coding		174		chrX	TogoVar
VPS35_chr16_46651132_46694178	46675092	C C	CCTCAATT others(279): Show CCTCAATTCATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGGAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0162	1	174	0.0057	286	c.915 others(301): Show c.915-433_915-432insTTTGGGAGGCCGAGGTGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTCCGCCACTGCAGTCCGCAGTCTGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATGA ATTGAG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	8/16			chr16	TogoVar
VPS35_chr16_46651132_46694178	46675092	C C	CCTCAATT others(279): Show CCTCAATTCATTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCG CTCTGTCGCCCAGGCCAGACTGCGGACTGCAGTGGCGGAATCTCGGCTCA CTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC GAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATC TCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAA	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01169.hp2 HG01496.hp2 others(12): Show HG01106.hp1 HG01169.hp2 HG01496.hp2 HG01884.hp1 HG02257.hp1 HG02280.hp2 HG02723.hp1 HG02809.hp1 HG02976.hp1 HG03139.hp2 HG03209.hp2 HG03540.hp2 NA18906.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0132 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0005g0017 a0001c0001t0005g0149	15	188	0.0798	286	c.915 others(301): Show c.915-433_915-432insTTTGGGAGGCCGAGGCGGGTGGATCATGAG GTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCA GCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAG CTTGCAGTGAGCCGAGATTCCGCCACTGCAGTCCGCAGTCTGGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAATGA ATTGAG	VPS35	ENSG00000069329.19	transcript	ENST00000299138.12	protein_coding	8/16			chr16	TogoVar
WDR64_chr1_241647281_241807777	241675038	T T	TCCTGCCT others(279): Show TCCTGCCTCCCTCCCTCCTTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCT CCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTT CCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTC CTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTCCCTCCCTCC CTCCTTCCTCCCTCCCCTCCCTCCTTCCTCCCTCCCTCCCTCCTGCCTCC CTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTGCCTC	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0289 a0001c0001t0001g0289	1	155	0.0065	286	c.483 others(301): Show c.483+292_483+293insCTGCCTCCCTCCCTCCTTCCTGCCTCCCTC CCTCCTTCCTTCCTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTTCCTTC CTCCCTCCCTCCTTCCTTCCTCCCTCCCTCCTGCCTCCCTCCCTCCCTCC TGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCTTCCTCCCTCCC TCCTTCCTCCCTCCCTCCCTCCTTCCTCCCTCCCCTCCCTCCTTCCTCCC TCCCTCCCTCCTGCCTCCCTCCCTCCCTCCTGCCTCCCTCCCTCCTTCCT GCCTCC	WDR64	ENSG00000162843.18	transcript	ENST00000437684.7	protein_coding	4/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
WDR70_chr5_37374318_37758435	37688693	T T	TAAAAATA others(279): Show TAAAAATAAGCAAATTTCACTTTGGGAGGCCGAGGCGGGCGGATCACGAG GTCAGGAGATCGAGACCACCCCGGCTAGAATGGTGAAACCCCGTCTCTAC TAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTATAGTCCCA GCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAG CTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	175	0.0057	286	c.109 others(305): Show c.1093-8946_1093-8945insCACTTTGGGAGGCCGAGGCGGGCGGA TCACGAGGTCAGGAGATCGAGACCACCCCGGCTAGAATGGTGAAACCCCG TCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTAT AGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGA GGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGC GACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAT AAGCAAATTT	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TATTATAT others(279): Show TATTATATATATATTATATATATATATAATATATATATATATAATATATA TATTATATATATATATAATATATATATATTATATATATATATAATATATA TATATTATATATATATATAATATATATATTATATATATAATATATATATT ATATATATATATTATATATATATTATATAATATAATATTATTATATATTA TATAATATATATATAATATATAATAATATATAATATATATAATATATATA TTATATATATATATTATATATATATAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0121 a0004c0003t0003g0121	1	49	0.0204	286	c.37 others(297): Show c.3793_*3794insCTCTCTCTCTCTATATATATATAATATATATATA TAATATATATATTATATATATTATATATTATTATATATTATATATATATT ATATAATATATAATAATATTATATTATATAATATATATATAATATATATA TATAATATATATATTATATATATAATATATATATTATATATATATATAAT ATATATATATTATATATATATATAATATATATATATTATATATATATATA ATATATATATTATATATATATATATTATATATATATATAATATATATATA AT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
WDR87_chr19_37879823_37911594	37881138	T T	TATTATAT others(279): Show TATTATATATATATTATATATATATATAATATATATATATATAATATATA TATTATATATATATATAATATATATATATTATATATATATATAATATATA TATATTATATATATATATAATATATATATTATATATATAATATATATATT ATATATATATATTATATATATATTATATAATATAATATTATTATATATTA TATAATATATATATAATATATAATAATATATAATATATATAATATATATA TTATATATATATATTATATATATATATAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0003 a0004c0003t0003	a0004c0003t0003g0120 a0004c0003t0003g0120	1	49	0.0204	286	c.37 others(297): Show c.3793_*3794insCTCTCTCTCTATATATATATATAATATATATATA TAATATATATATTATATATATTATATATTATTATATATTATATATATATT ATATAATATATAATAATATTATATTATATAATATATATATAATATATATA TATAATATATATATTATATATATAATATATATATTATATATATATATAAT ATATATATATTATATATATATATAATATATATATATTATATATATATATA ATATATATATTATATATATATATATTATATATATATATAATATATATATA AT	WDR87	ENSG00000171804.11	transcript	ENST00000447313.7	protein_coding		3684		chr19	TogoVar
XRCC2_chr7_152639776_152681141	152674704	T T	TAATATAT others(279): Show TAATATATATTTTAAAATATATTTATATATAATATATTTTTAAATATATA TTATATATATTTTAAAATATATTTATATATATTTTTAAATATATATTATA TATAATATATTTTTAAATATATATTATATATAATATATATTTAAAATATA TTATATAAATATATTTTAAAATATGTATTATATATATTTTTAAATATATA TTATATATAAATATATTTTTAAATATATATTATATATAAATATATTTTTA AATATATATTATATATAAATATATTTTTAAATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0196 a0001c0001t0020g0196	1	341	0.0029	286	c.39+ others(301): Show c.39+1336_39+1337insTATATATTTAAAAATATATTTATATATAAT ATATATTTAAAAATATATTTATATATAATATATATTTAAAAATATATTTA TATATAATATATATTTAAAAATATATATAATACATATTTTAAAATATATT TATATAATATATTTTAAATATATATTATATATAATATATATTTAAAAATA TATTATATATAATATATATTTAAAAATATATATAAATATATTTTAAAATA TATATAATATATATTTAAAAATATATTATATATAAATATATTTTAAAATA TATATT	XRCC2	ENSG00000196584.4	transcript	ENST00000359321.2	protein_coding	1/2			chr7	TogoVar
YBEY_chr21_46281342_46302751	46293549	C C	CGGTTAGC others(279): Show CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTT AAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGG AGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA19007.hp2 NA19087.hp2 NA18970.hp1 NA19007.hp2 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0074 a0001c0001t0001g0005 a0001c0001t0001g0074	3	388	0.0077	286	c.339 others(303): Show c.339+2137_339+2138insAACTCTAGATTCCTCCCGTGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA CAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATT CCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC GCAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46293740	G G	GCAAGTTA others(279): Show GCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGG ACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCG CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTT AGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGAC TCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACA	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	202	0.0050	286	c.339 others(303): Show c.339+2285_339+2286insAACTCTAGATTCCTCCCGTGGTTAGCCT GACCCGTGCCCGGGACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGA TTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGA CAGCCACACAAGTTAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGA CCCGTGCCCCGGACTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATT CCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCAC ACAAGTTA	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YBEY_chr21_46281342_46302751	46294141	C C	CGGTTAGC others(279): Show CGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGAGTCAGCCACGCAAGTT AAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGGGACTCAGT GGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCCGCGGTTAG CCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGTTAGACTCT AGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGACTCAGTGG AGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	392	0.0026	286	c.340 others(303): Show c.340-2008_340-2007insCGTGCCCGGGACTCAGTGGAGTCAGCCA CGCAAGTTAAACTCTAGATTCCTCCCGTGGTTAGCCTGACCCGTGCCCGG GACTCAGTGGAGTCAGCCACACAAGTTAAACTCTAGATTAAATTCCTCCC GCGGTTAGCCTGACCCGTGCCCGGGACTCAGTGGGGACAGCCACACAAGT TAGACTCTAGATTAAATTCCTCCCGCGGTTAGCCTGACCCGTGCCCCGGA CTCAGTGGAGTCAGCCACGCAAGTTAAACTCTAGATTCCTCCCGTGGTTA GCCTGACC	YBEY	ENSG00000182362.14	transcript	ENST00000397701.9	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr21	TogoVar
YTHDC2_chr5_113508694_113600284	113586880	T T	TATATAAT others(279): Show TATATAATATATAAATATATATTATGTATTCATATATAATATATAAATAT ATATTATGTATTCATATATAATATATAAATATATATTATGTATTCATATA TAATATATAAATATATATTATGTATTCATATATAATATATAAATATATAT TATGTATTCATATATAATATATAAATATATATTATGTATTCATATATAAT ATATAAATATATATTATGTATTCATATATAATATATAAATATATATTATG TATTCATATATAATATATAAATATATATTATGTATTC	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0039 a0003c0003t0002g0039	1	155	0.0065	286	c.382 others(305): Show c.3825+2406_3825+2407insATATATAAATATATATTATGTATTCA TATATAATATATAAATATATATTATGTATTCATATATAATATATAAATAT ATATTATGTATTCATATATAATATATAAATATATATTATGTATTCATATA TAATATATAAATATATATTATGTATTCATATATAATATATAAATATATAT TATGTATTCATATATAATATATAAATATATATTATGTATTCATATATAAT ATATAAATATATATTATGTATTCATATATAATATATAAATATATATTATG TATTCATATA	YTHDC2	ENSG00000047188.16	transcript	ENST00000161863.9	protein_coding	26/29		INFO_REALIGN_3_PRIME	chr5	TogoVar

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