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
PLIN3_chr19_4833341_4872667	4843237	T T	CGGCTCAC others(279): Show CGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATC ACAAGGTCAGCAGATCAAGACCATCCCGCGTAACACGGTGAAATCGCGTC TCTACTAAAAATACAAAAAAAATTAGCTGGGCCTGGTGGCGGGCGCCTGT AGTCCCAGATACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGA GGCAGAGCTGGTAGTGAGCTGAGATTACACCACTGCACTCCAGCCTGGGC AACAGAGCAATAAATAAATAAATAGGCAGGGCGCGGT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0227 a0001c0003t0001g0227	1	294	0.0034	286	c.960 others(303): Show c.960+1431_960+1432insCCGCGCCCTGCCTATTTATTTATTTATT GCTCTGTTGCCCAGGCTGGAGTGCAGTGGTGTAATCTCAGCTCACTACCA GCTCTGCCTCCCAGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAT CTGGGACTACAGGCGCCCGCCACCAGGCCCAGCTAATTTTTTTTGTATTT TTAGTAGAGACGCGATTTCACCGTGTTACGCGGGATGGTCTTGATCTGCT GACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCG	PLIN3	ENSG00000105355.9	transcript	ENST00000221957.9	protein_coding	7/7			chr19	TogoVar
PPM1L_chr3_160751231_161083902	160945043	T T	TATTATAT others(279): Show TATTATATATAACTATATATAACATGTTATATATAACTATATATAACATG TTATATATAACTATATATAACATGTTATATATAACTATATATAACATGTT ATATATAACTATATATAACATGTTATATATAACTATATATAACATGTTAT ATATAACTATATATAACATGTTATATATAACTATATATAACATGTTATAT ATAACTATATATAACATGTTATATATAACTATATATAACATGTTATATAT AACTATATATAACATGTTATATATAACTATATATAAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18946.hp1 HG00738.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0039 a0001c0001t0002g0054 a0001c0001t0002g0039 a0001c0001t0002g0054	2	196	0.0102	286	c.400 others(305): Show c.400-16691_400-16690insTATATATAACTATATATAACATGTTA TATATAACTATATATAACATGTTATATATAACTATATATAACATGTTATA TATAACTATATATAACATGTTATATATAACTATATATAACATGTTATATA TAACTATATATAACATGTTATATATAACTATATATAACATGTTATATATA ACTATATATAACATGTTATATATAACTATATATAACATGTTATATATAAC TATATATAACATGTTATATATAACTATATATAACATGTTATATATAACTA TATATAACAT	PPM1L	ENSG00000163590.14	transcript	ENST00000498165.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr3	TogoVar
PPP1R9A_chr7_94902594_95301400	95248186	T T	TTAAAAAT others(279): Show TTAAAAATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0018 a0006c0007t0018	a0006c0007t0018g0187 a0006c0007t0018g0187	1	162	0.0062	286	c.216 others(303): Show c.2166+671_2166+672insATATTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAATAA AAATATAT	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPP1R9A_chr7_94902594_95301400	95248186	T T	TTAAAAAT others(279): Show TTAAAAATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGAT CTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG06807.hp1 HG02602.hp1 HG06807.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0003 a0002c0001t0042 a0002c0001t0003 a0002c0001t0042	a0002c0001t0003g0036 a0002c0001t0042g0086 a0002c0001t0003g0036 a0002c0001t0042g0086	2	163	0.0123	286	c.216 others(303): Show c.2166+671_2166+672insATTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTGTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAATAA AAATATAT	PPP1R9A	ENSG00000158528.12	transcript	ENST00000433360.6	protein_coding	9/19		INFO_REALIGN_3_PRIME	chr7	TogoVar
PROZ_chr13_113153648_113177386	113154196	G G	GAGGCGGG others(279): Show GAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGG GCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCG GGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGAGG GGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCGTGGGGGGCGGGGCGT CGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGG GGGAGGCGGGGCGCGGGGGGAGGCGGGGCGCGGGGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	301	0.0033	286	c.-44 others(297): Show c.-4465_-4464insAGGCGGGGCGCGGGGGAGGAGGGGCGTGGGGGGC GGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGGGGAGGCGG GGCGCGGGGGAGGCGGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGG GCGCGGGGGAGGAGGGGCGTGGGGGGGCGGGCCGTGGGGGAGGAGGGGCG TGGGGGGCGGGGCGTCGGGGAGGGCAGGGGCACGTGACGCAGGGCGCGGG GGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGGAGGCGGGGCGCGGGG GA	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4451		chr13	TogoVar
PSMD1_chr2_231051867_231177827	231118124	T T	TAATAGTA others(279): Show TAATAGTACCTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCT CACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03195.hp2 HG03540.hp1 HG02055.hp1 HG03195.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0118 a0001c0001t0003g0125 a0001c0001t0003g0129 a0001c0001t0003g0118 a0001c0001t0003g0125 a0001c0001t0003g0129	3	355	0.0085	286	c.188 others(307): Show c.1884-20597_1884-20596insTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGC AATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTG CCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGG CTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGG ATGGTCTCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAT AGTACCTGTTTT	PSMD1	ENSG00000173692.14	transcript	ENST00000308696.11	protein_coding	16/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
PWWP2B_chr10_132392200_132422859	132392515	T T	TGTGATAA others(279): Show TGTGATAATGGTGATGGTGATGGTAGTGGATGGGGGTGGTGGTAATGGTG ATGATGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGATAACGGTGAT GGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATAA TGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGGTGATGATG GTGATGGTGATGGTGATGGTGGTGGTGGTGGTGATAATGGTGATGGTGAT GGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0121 a0001c0009t0001g0121	1	365	0.0027	286	c.-47 others(297): Show c.-4712_-4711insGTGATAATGGTGATGGTGATGGTAGTGGATGGGG GTGGTGGTAATGGTGATGATGGTGATGGTGATGGTGATGGTGGTGGTGGT GGTGATAACGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGA TGGTGATGGTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTG GTAATGGTGATGATGGTGATGGTGATGGTGATGGTGGTGGTGGTGGTGAT AATGGTGATGGTGATGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGA TG	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4684		chr10	TogoVar
RAI14_chr5_34651328_34837612	34665005	A A	ATATATAT others(279): Show ATATATATATGTGTATATATATATGTGTATATATATATGTGTATATATAT ATGTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTAT ATATATATGTGTATATATATGTGTATATATATGTGTATATATATGTGTAT ATATATGTGTATATATATGTGTATATATATATGTGTATATATATGTGTAT ATATATATGTGTATATATATGTGTATATATATATGTGTATATATATGTGT ATATATATGTGTATATATATGTGTATATATATATGTG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0007 a0005c0013t0007	a0005c0013t0007g0027 a0005c0013t0007g0027	1	242	0.0041	286	c.-49 others(303): Show c.-49+8539_-49+8540insGTGTATATATATATGTGTATATATATAT GTGTATATATATATGTGTATATATATATGTGTATATATATATGTGTATAT ATATATGTGTATATATATATGTGTATATATATGTGTATATATATGTGTAT ATATATGTGTATATATATGTGTATATATATGTGTATATATATATGTGTAT ATATATGTGTATATATATATGTGTATATATATGTGTATATATATATGTGT ATATATATGTGTATATATATGTGTATATATATGTGTATATATATATGTGT ATATATAT	RAI14	ENSG00000039560.14	transcript	ENST00000265109.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
RBFOX3_chr17_79084345_79616051	79245543	C C	CACAGCCG others(279): Show CACAGCCGCCGCCCACCCCCACTGCCGCCGCCCACCCCCACTCCCGCCGC TCATCTCCAGGACTTCTTCATCTCTCCAAACCAAAGCTCTGTCCCCGTTA AACACCCACTCTCCACTCCCCCTTCAGCCCCTGGCAACCCCCATTCTACT TTCTATCTCTATGACTTGGCCTACTCTAGGGACCCTCATTTACGTGGAAT CAGATGACATTTGTCCTTTTGTGCCCGGCCATTTCACTCAGCATAATGTC CTCAAGGTTCATCCCTGTTGCAGCCGGGGTCAGAATT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0113 a0001c0001t0008g0113	1	151	0.0066	286	c.-73 others(303): Show c.-73-9739_-73-9738insAATTCTGACCCCGGCTGCAACAGGGATG AACCTTGAGGACATTATGCTGAGTGAAATGGCCGGGCACAAAAGGACAAA TGTCATCTGATTCCACGTAAATGAGGGTCCCTAGAGTAGGCCAAGTCATA GAGATAGAAAGTAGAATGGGGGTTGCCAGGGGCTGAAGGGGGAGTGGAGA GTGGGTGTTTAACGGGGACAGAGCTTTGGTTTGGAGAGATGAAGAAGTCC TGGAGATGAGCGGCGGGAGTGGGGGTGGGCGGCGGCAGTGGGGGTGGGCG GCGGCTGT	RBFOX3	ENSG00000167281.20	transcript	ENST00000693108.1	protein_coding	3/14			chr17	TogoVar
RBM33_chr7_155639661_155786480	155673533	T T	TATACATA others(279): Show TATACATACACACGTGTATATATATACACGCATATACATACACACGTGTA TATATATACACGCATATACATACACACGTGTATATATATACACGCATATA CATACACACGTGTATATATATACACGCATATACATACACACGTGTATATA TATACACGCATATACATACACACGTGTATATATATACACGCATATACATA CACACGTGTATATATATACACGCATATACATACACACGTGTATATATATA CACGCATATACATACACACGTGTATATATATACACGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp2 HG03669.hp2 others(4): Show HG00280.hp1 HG00323.hp2 HG03669.hp2 HG03831.hp2 NA18989.hp2 NA19062.hp1 NA21309.hp1	a0001 a0005 a0001 a0005	a0001c0003 a0001c0011 a0005c0013 a0001c0003 a0001c0011 a0005c0013	a0001c0003t0008 a0001c0003t0009 a0001c0003t0096 others(3): Show a0001c0003t0008 a0001c0003t0009 a0001c0003t0096 a0001c0003t0100 a0001c0011t0097 a0005c0013t0009	a0001c0003t0008g0267 a0001c0003t0009g0258 a0001c0003t0009g0269 others(4): Show a0001c0003t0008g0267 a0001c0003t0009g0258 a0001c0003t0009g0269 a0001c0003t0096g0078 a0001c0003t0100g0077 a0001c0011t0097g0085 a0005c0013t0009g0264	7	301	0.0233	286	c.171 others(301): Show c.171+621_171+622insCATACACACGTGTATATATATACACGCATA TACATACACACGTGTATATATATACACGCATATACATACACACGTGTATA TATATACACGCATATACATACACACGTGTATATATATACACGCATATACA TACACACGTGTATATATATACACGCATATACATACACACGTGTATATATA TACACGCATATACATACACACGTGTATATATATACACGCATATACATACA CACGTGTATATATATACACGCATATACATACACACGTGTATATATATACA CGCATA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM33_chr7_155639661_155786480	155673584	A A	ATATATAT others(279): Show ATATATATACACGCATATACATACACACGTGTATATATATACACGCATAT ACATACACACGTGTATATATATACACGCATATACATACACACGTGTATAT ATATACACGCATATACATACACACGTGTATATATATACACGCATATACAT ACACACGTGTATATATATACACGCATATACATACACACGTGTATATATAT ACACGCATATACATACACACGTGTATATATATACACGCATATACATACAC ACGTGTATATATATACACGCATATACATACACACGTG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0085 a0001c0003t0085	a0001c0003t0085g0271 a0001c0003t0085g0271	1	292	0.0034	286	c.171 others(301): Show c.171+677_171+678insCACGCATATACATACACACGTGTATATATA TACACGCATATACATACACACGTGTATATATATACACGCATATACATACA CACGTGTATATATATACACGCATATACATACACACGTGTATATATATACA CGCATATACATACACACGTGTATATATATACACGCATATACATACACACG TGTATATATATACACGCATATACATACACACGTGTATATATATACACGCA TATACATACACACGTGTATATATATACACGCATATACATACACACGTGTA TATATA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RBM33_chr7_155639661_155786480	155673695	T T	TATACATA others(279): Show TATACATACACACGTGTATATATATACACGCATATACATACACACGTGTA TATATATACACGCATATACATACACACGTGTATATATATACACGCATATA CATACACACGTGTATATATATACACGCATATACATACACACGTGTATATA TATACACGCATATACATACACACGTGTATATATATACACGCATATACATA CACACGTGTATATATATACACGCATATACATACACACGTGTATATATATA CACGCATATACATACACACGTGTATATATATACACGC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0255 a0001c0003t0005g0255	1	293	0.0034	286	c.171 others(301): Show c.171+783_171+784insCATACACACGTGTATATATATACACGCATA TACATACACACGTGTATATATATACACGCATATACATACACACGTGTATA TATATACACGCATATACATACACACGTGTATATATATACACGCATATACA TACACACGTGTATATATATACACGCATATACATACACACGTGTATATATA TACACGCATATACATACACACGTGTATATATATACACGCATATACATACA CACGTGTATATATATACACGCATATACATACACACGTGTATATATATACA CGCATA	RBM33	ENSG00000184863.11	transcript	ENST00000401878.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr7	TogoVar
RECQL4_chr8_144506288_144522833	144513728	T T	TGGCGTGG others(279): Show TGGCGTGGGGAGTGAGGAGGGGTCGGCGTGTGCAGTGGGGAGTGAGGAGG GGTCGGCGTGGGGAGTGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCAGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC CTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02572.hp2 HG02970.hp1 others(1): Show HG02145.hp2 HG02572.hp2 HG02970.hp1 NA21309.hp1	a0013 a0042 a0013 a0042	a0013c0025 a0013c0044 a0042c0045 a0013c0025 a0013c0044 a0042c0045	a0013c0025t0001 a0013c0044t0001 a0042c0045t0001 a0013c0025t0001 a0013c0044t0001 a0042c0045t0001	a0013c0025t0001g0035 a0013c0044t0001g0133 a0042c0045t0001g0132 a0013c0025t0001g0035 a0013c0044t0001g0133 a0042c0045t0001g0132	4	409	0.0098	286	c.205 others(301): Show c.2059-17_2059-16insGACCCCTCCTCACTCCCCACCGCCCACGCC GACCCCTCCTCACTCCCCACCGCCCACGCCGACCCCTCCTCACTCCCCAC CGCCCAGGCCGACCCCTCCTCACTCCCCACCGCACAGGCCGACCCCTCCT CACTCCCCACTGCCCAGGCCGACCCCTCCTCACTCCCCACTGCCCACGCC GACCCCTCCTCACTCCCCACTGCCCACGCCGACCCCTCCTCACTCCCCAC GCCGACCCCTCCTCACTCCCCACTGCACACGCCGACCCCTCCTCACTCCC CACGCC	RECQL4	ENSG00000160957.15	transcript	ENST00000617875.6	protein_coding	12/20			chr8	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(279): Show CTATATAGATATATAGATACATCTAGATATATAGATACATCTAGATAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	194	0.0052	286	c.22 others(297): Show c.2236_*2237insTATATAGATATATAGATACATCTAGATATATAGA TACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATC TAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881962	C C	CTATATAG others(279): Show CTATATAGATATATAGATACATCTATATAGATATATAGATACATCTAGAT ATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAG ATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACAT CTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGAT AGATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATAT ATAGATACATCTAGATAGATATATAGATACATCTAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	194	0.0052	286	c.22 others(297): Show c.2236_*2237insTATATAGATATATAGATACATCTATATAGATATA TAGATACATCTAGATATATAGATACATCTAGATAGATATATAGATACATC TAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTAGATA GATATATAGATACATCTAGATAGATATATAGATACATCTAGATAGATATA TAGATACATCTAGATAGATATATAGATACATCTAGATAGATATATAGATA CATCTAGATAGATATATAGATACATCTAGATAGATATATAGATACATCTA GA	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2042		chr13	TogoVar
RNF17_chr13_24759169_24884921	24881982	A A	ATATATAG others(279): Show ATATATAGATACATCTATATATAGATACATCTATATATAGATACATCTAT ATATAGATACATCTATATATAGATACATCTATATATAGATACATCTATAT ATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATAT AGATACATCTATATATAGATACATCTATATATAGATACATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0091 a0003c0006t0001g0091	1	410	0.0024	286	c.22 others(297): Show c.2256_*2257insTATATAGATACATCTATATATAGATACATCTATA TATAGATACATCTATATATAGATACATCTATATATAGATACATCTATATA TAGATACATCTATATATAGATACATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACA TC	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2062		chr13	TogoVar
RNF17_chr13_24759169_24884921	24882005	G G	GATACATC others(279): Show GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCATCTATATATAG ATACATCTATATATAGATACATCATCTATATATAGATACATCTATATATA GATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGA TACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATA CATCTATATATAGATACATCTATATATAGATACATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18612.hp2 NA19001.hp1 NA18612.hp2 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0285 a0001c0001t0001g0286	2	356	0.0056	286	c.22 others(297): Show c.2279_*2280insATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCATCTATATATAGATACATCTATATATAGATACATCATCTATATATAG ATACATCTATATATAGATACATCTATATATAGATACATCTATATATAGAT ACATCTATATATAGATACATCTATATATAGATACATCTATATATAGATAC ATCTATATATAGATACATCTATATATAGATACATCTATATATAGATACAT CT	RNF17	ENSG00000132972.19	transcript	ENST00000255324.10	protein_coding		2085		chr13	TogoVar
RORA_chr15_60483284_61234302	60816082	G G	GTATACTG others(279): Show GTATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTAT TTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGT ATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATAT GTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTAT ATGTATTTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGT ATATGTATTTATATACTGTAAACAGTATATGTATTTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01123.hp1 HG03704.hp1 HG00621.hp2 HG01123.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0017 a0001c0001t0051 a0001c0001t0001 a0001c0001t0017 a0001c0001t0051	a0001c0001t0001g0054 a0001c0001t0017g0098 a0001c0001t0051g0015 a0001c0001t0001g0054 a0001c0001t0017g0098 a0001c0001t0051g0015	3	45	0.0667	286	c.167 others(307): Show c.167-137682_167-137397dupTAAATACATATACTGTTTACAGTA TATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTACAG TATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTTAC AGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGTTT ACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGT TTACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATACT GTTTACAGTATA	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RORA_chr15_60483284_61234302	60816450	A A	ACTGTAAA others(279): Show ACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTATTTAT ATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTATTT ATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGTAT TTATATACTGTAAACAGTATATGTATTTATATACTGTAAACAGTATATGT ATTTATATACTGTAAACAGTATATGTATTTATATGCTGTAAACAGTATAT GTATTTATATACTGTAAACAGTATATGTATTTATATG	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0028 a0001c0001t0007g0028	1	118	0.0085	286	c.167 others(307): Show c.167-137765_167-137764insCATATAAATACATATACTGTTTAC AGTATATAAATACATATACTGTTTACAGCATATAAATACATATACTGTTT ACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATACTGT TTACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATACT GTTTACAGTATATAAATACATATACTGTTTACAGTATATAAATACATATA CTGTTTACAGTATATAAATACATATACTGTTTACAGTATATAAATACATA TACTGTTTACAG	RORA	ENSG00000069667.16	transcript	ENST00000335670.11	protein_coding	1/10			chr15	TogoVar
RTEL1_chr20_63653312_63701245	63693531	A A	ACCTCCAC others(279): Show ACCTCCACCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCTCCAC CTCCACCACGTCCCACCACCTCCACCACCACCTCCACCACCCACCACCAC CTCCACCACCTCCACCTCCACCACCTCCACCTCCACCACCACCTCCACCT CCACCACCTCCACCACCACCACCACCCACCCACCACCTCCACCTCCACCT CCACCACCTCCACCTCCACCACCACCACCACCACCACCACCACCACCACC ACCACCACCCACCCCACCACCACCACCTCCACCCACC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	51	0.0196	286	c.299 others(303): Show c.2992+250_2992+251insTCCACCACCTCCACCTCCACCTCCACCA CCTCCACCTCCACCTCCACCTCCACCACGTCCCACCACCTCCACCACCAC CTCCACCACCCACCACCACCTCCACCACCTCCACCTCCACCACCTCCACC TCCACCACCACCTCCACCTCCACCACCTCCACCACCACCACCACCCACCC ACCACCTCCACCTCCACCTCCACCACCTCCACCTCCACCACCACCACCAC CACCACCACCACCACCACCACCACCACCCACCCCACCACCACCACCTCCA CCCACCCC	RTEL1	ENSG00000258366.12	transcript	ENST00000360203.11	protein_coding	30/34		INFO_REALIGN_3_PRIME	chr20	TogoVar
RUNDC3B_chr7_87623398_87837296	87626724	G G	GTCATATA others(279): Show GTCATATATGTGTGTCATATATATGTCATATATGTGTGTCATATATATGT CATATATGTGTGTCATATATATGTCATATATGTGTGTCATATATATGTCA TATATGTGTGTCATATATATGTCATATATGTGTGTCATATATATGTCATA TATGTGTGTCATATATATGTCATATATGTGTGTCATATATATGTCATATA TGTGTGTCATATATATGTCATATATGTGTGTCATATATATGTCATATATG TGTGTCATATATATGTCATATATGTGTGTCATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0181 a0001c0001t0022g0181	1	194	0.0052	286	c.-21 others(297): Show c.-2100_-2099insTCATATATGTGTGTCATATATATGTCATATATGT GTGTCATATATATGTCATATATGTGTGTCATATATATGTCATATATGTGT GTCATATATATGTCATATATGTGTGTCATATATATGTCATATATGTGTGT CATATATATGTCATATATGTGTGTCATATATATGTCATATATGTGTGTCA TATATATGTCATATATGTGTGTCATATATATGTCATATATGTGTGTCATA TATATGTCATATATGTGTGTCATATATATGTCATATATGTGTGTCATATA TA	RUNDC3B	ENSG00000105784.16	transcript	ENST00000394654.4	protein_coding		1673		chr7	TogoVar
SAMD10_chr20_63969116_63984642	63970942	C C	CCTTCCTT others(279): Show CCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCT CCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCCCTCCCTTCTTCCTTCCT TTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCC TCCCTCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTCCCTTCCTCCCTCC CTTCTTCCTTCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTT CTCTTCTCTTCCCTCCCTCCCTACCTCCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	77	0.0130	286	c.45 others(297): Show c.4567_*4568insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAG GAAAGGAAGGAAGAAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAA GGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGA AG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3173		chr20	TogoVar
SAMD10_chr20_63969116_63984642	63970942	C C	CCTTCCTT others(279): Show CCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCT CCCTTCCTTCTCTTCCTTCCCTTCCCTCCCTCCCTTCTTCCTTCCTTTCC TTCCTTCTTCCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCC TCCCTCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTACCTTCCTCCCTCC CTTCTTCCTTCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTT CTCTTCTCTTCCCTCCCTCCCTACCTCCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	77	0.0130	286	c.45 others(297): Show c.4567_*4568insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGTAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAGGAAGAAG GAAGGAAAGGAAGGAAGAAGGGAGGGAGGGAAGGGAAGGAAGAGAAGGAA GGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGA AG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3173		chr20	TogoVar
SAMD10_chr20_63969116_63984642	63970942	C C	CCTTCCTT others(279): Show CCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCCTCCCTCCCTTCCT CCCTTCCTTCTCTTCCTTCCCTTCCCTTCCTCCCTCCCTTCTTCCTTCCT TTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTTCTCTTCTCTTCCC TCCCTCCCTTCCTCCCTTCCTTCTCTTCCTTCCCTTCCCTTCCTCCCTCC CTTCTTCCTTCCTTTCCTTCCTTCTTCCTTCCTTTTCTCTTTCCTTCCTT CTCTTCTCTTCCCTCCCTCCCTACCTCCCTTCCTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01516.hp1 HG01517.hp1 others(1): Show HG01074.hp2 HG01516.hp1 HG01517.hp1 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0005 a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0002g0005	4	80	0.0500	286	c.45 others(297): Show c.4567_*4568insAGAAGGAAGGGAGGTAGGGAGGGAGGGAAGAGAA GAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAGGAAAGGAAGGAAG AAGGGAGGGAGGAAGGGAAGGGAAGGAAGAGAAGGAAGGGAGGAAGGGAG GGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGAAGGAAGAAGGAAG GAAAGGAAGGAAGAAGGGAGGGAGGAAGGGAAGGGAAGGAAGAGAAGGAA GGGAGGAAGGGAGGGAGGGAAGAGAAGAGAAGGAAGGAAAGAGAAAAGGA AG	SAMD10	ENSG00000130590.14	transcript	ENST00000369886.8	protein_coding		3173		chr20	TogoVar
SAMD11_chr1_918923_949574	934064	A A	AGGGGAGG others(279): Show AGGGGAGGCTGCTCCGTTACAGGTGGGCGGGGGAGGTGGCTGCTCCGTTA CAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGCGGGGGGGAGGCGG CTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTACAGGTGGGCGGGGG AGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCTGCGTTACAGGTGG GCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTAC AGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0358 a0001c0001t0012g0358	1	272	0.0037	286	c.843 others(303): Show c.843-1700_843-1699insTGCTCCGTTACAGGTGGGCGGGGGAGGT GGCTGCTCCGTTACAGGTGGGCGGGGGAGGCGGCTCCGTTACAGGTGGGC GGGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGCTGCTCCGTTAC AGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGGGGCGGCT GCGTTACAGGTGGGCGGGGGAGGCGGCTGCGTTACAGGTGGGCGGGGGGG GCTGCTCCGTTACAGGTGGGCGGGGGGGGCGGCTCCGTTACAGGTGGGCG GGGGAGGC	SAMD11	ENSG00000187634.13	transcript	ENST00000616016.5	protein_coding	4/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SARDH_chr9_133658560_133743352	133669235	T T	TCCCTCAC others(279): Show TCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTCTCTCTCCTTCCCTCTC CCTTACCCTCCCTCTCCCTCACCTTCCCTCTCCCTCACCCTCCATCTCCC TCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCCTCATCCTCCCTCACCC TCCCTCTCCCTCACCTTCCCTCTCCCTCACCTTCCCTCTCCCTTACCCTC CATCTCCCTCACCCTCCCTCTCCCCTTACCCTCCCTCTCCCTCACCTTCC CTCTCCCTCACCCTCCCTCTCCCTCACCCTCCCTCTC	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0034 a0002c0034	a0002c0034t0002 a0002c0034t0002	a0002c0034t0002g0153 a0002c0034t0002g0153	1	194	0.0052	286	c.249 others(305): Show c.2495+1348_2495+1349insGAGAGGGAGGGTGAGGGAGAGGGAGG GTGAGGGAGAGGGAAGGTGAGGGAGAGGGAGGGTAAGGGGAGAGGGAGGG TGAGGGAGATGGAGGGTAAGGGAGAGGGAAGGTGAGGGAGAGGGAAGGTG AGGGAGAGGGAGGGTGAGGGAGGATGAGGGGAGAGGGAGGGTAAGGGGAG AGGGAGGGTGAGGGAGATGGAGGGTGAGGGAGAGGGAAGGTGAGGGAGAG GGAGGGTAAGGGAGAGGGAAGGAGAGAGAGAGGGAGGGTGAGGGAGAGGG AGGGTGAGGG	SARDH	ENSG00000123453.19	transcript	ENST00000439388.6	protein_coding	19/20			chr9	TogoVar
SASH1_chr6_148337838_148557044	148481015	T T	TAAAAATG others(279): Show TAAAAATGTTCTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAAATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATCGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp1 HG00738.hp2 others(28): Show HG00280.hp2 HG00639.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01192.hp1 HG01884.hp2 HG02004.hp1 HG02040.hp2 HG02129.hp2 HG02273.hp1 HG02559.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02738.hp2 HG02970.hp2 HG03225.hp1 HG03486.hp1 HG03654.hp1 HG03688.hp2 HG03942.hp1 HG04199.hp1 NA18977.hp1 NA19009.hp1 NA19063.hp2 NA20752.hp2 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0002c0002 a0003c0006 others(1): Show a0001c0001 a0002c0002 a0003c0006 a0008c0021	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0030 a0001c0001t0032 a0001c0001t0034 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0009 a0002c0002t0015 a0003c0006t0001 a0008c0021t0005	a0001c0001t0001g0309 a0001c0001t0002g0114 a0001c0001t0002g0133 others(28): Show a0001c0001t0001g0309 a0001c0001t0002g0114 a0001c0001t0002g0133 a0001c0001t0002g0143 a0001c0001t0005g0256 a0001c0001t0009g0003 a0001c0001t0009g0004 a0001c0001t0013g0185 a0001c0001t0016g0156 a0001c0001t0030g0043 a0001c0001t0032g0252 a0001c0001t0034g0228 a0002c0002t0001g0111 a0002c0002t0001g0208 a0002c0002t0001g0303 a0002c0002t0002g0014 a0002c0002t0002g0097 a0002c0002t0002g0168 a0002c0002t0002g0237 a0002c0002t0003g0110 a0002c0002t0004g0049 a0002c0002t0004g0203 a0002c0002t0004g0229 a0002c0002t0004g0278 a0002c0002t0009g0236 a0002c0002t0015g0291 a0003c0006t0001g0056 a0003c0006t0001g0057 a0003c0006t0001g0084 a0003c0006t0001g0085 a0008c0021t0005g0093	31	301	0.1030	286	c.628 others(303): Show c.628-6590_628-6589insCTTTGGGAGGCCGAGGCGGGCGGATCAC GAGGTCAGGAGATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGC GGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCAGTCCGCAGTCCGGCCT GGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAA AAAATGTT	SASH1	ENSG00000111961.19	transcript	ENST00000367467.8	protein_coding	7/19		INFO_REALIGN_3_PRIME	chr6	TogoVar
SATL1_chrX_85087284_85248779	85088071	C C	CGTATGTA others(279): Show CGTATGTATACATATATGTATAAATACATACATATTTATACGTATATGTA TACATACATATTAATACATATATATGTATAAATACATACATATTTATACA TATATATGTATAAATACATACATATTTATACATATATATGTATAAATACA TACATATTTATACATATATATGTATAAATACATACATATTTATACATATA TATGTATAAATACATACATATTTATACATATATATGTATAAATACATATA CATATTTATACATATATGTATAAATACATATACATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	204	0.0049	286	c.43 others(297): Show c.4319_*4320insATATGTATATGTATTTATACATATATGTATAAAT ATGTATATGTATTTATACATATATATGTATAAATATGTATGTATTTATAC ATATATATGTATAAATATGTATGTATTTATACATATATATGTATAAATAT GTATGTATTTATACATATATATGTATAAATATGTATGTATTTATACATAT ATATGTATAAATATGTATGTATTTATACATATATATGTATTAATATGTAT GTATACATATACGTATAAATATGTATGTATTTATACATATATGTATACAT AC	SATL1	ENSG00000184788.14	transcript	ENST00000644105.2	protein_coding		4212		chrX	TogoVar
SCAPER_chr15_76342904_76910340	76800144	T T	TATACATG others(279): Show TATACATGGATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGTTCTGTCGCCCAGGCGGGAGTGCAGTGGCGCGATCTCCGCTCACT GCAAGCTCCGCCTTCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACTGCGCCCGGCTAATTTTTTGTAT TTTTTAGTAGAGACGGGGTTTCACCGTGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp1 HG01884.hp2 others(10): Show HG00597.hp2 HG00733.hp1 HG01884.hp2 HG01928.hp2 HG02056.hp1 HG02602.hp1 HG03453.hp2 HG04204.hp2 HG06807.hp2 NA18967.hp2 NA19005.hp1 NA19007.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0051 others(10): Show a0001c0001t0001g0019 a0001c0001t0001g0046 a0001c0001t0001g0051 a0001c0001t0001g0076 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0005t0001g0042 a0001c0005t0001g0310	13	229	0.0568	286	c.611 others(301): Show c.611+103_611+104insGTAATCCCAGCACTTTGGGAGGCCGAGGCG GGCGGATCACGAGGTCAGGAGATCGAGACCACGGTGAAACCCCGTCTCTA CTAAAAAATACAAAAAATTAGCCGGGCGCAGTGGCGGGCGCCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGAAGGCGG AGCTTGCAGTGAGCGGAGATCGCGCCACTGCACTCCCGCCTGGGCGACAG AACGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATCC ATGTAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	7/31			chr15	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(279): Show TTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTCGG GGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGGG GGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAG GGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGAGTGAGG GGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGGTG TTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0088 a0002c0002t0001g0088	1	136	0.0074	286	c.464 others(299): Show c.464+91_464+92insTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGG GGGGTGGGGTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGGGGTTGGGTGA GGGGGGTGGGGGGGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTT GGGGTTGGGTGAGGGGGGTGGGGGGGTTGGGTGAGGGGGGTGGGGTGGGG GGGTTGAGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGA GGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGTTGGGTGAGGGGGGTGGGG TGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCTR_chr2_119434843_119529483	119444820	T T	TATATACA others(279): Show TATATACACATATATTCGTATGAATATATACACATATATTCGTATGAATA TATACACATATATTCGTATGAATATATACACATATATTCGTATGAATATA TACACATATATTCGTATGAATATATACACATATATTCGTATGAATATATA CACATATATTCGTATGAATATATACACATATATTCGTATGAATATATACA CATATATTCGTATGAATATATACACATATATTCGTATGAATATATACACA TATATTCGTATGAATATATACACATATATTCGTATGA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0007 a0001c0005t0004g0007	1	281	0.0036	286	c.114 others(305): Show c.1140+1938_1140+1939insTCATACGAATATATGTGTATATATTC ATACGAATATATGTGTATATATTCATACGAATATATGTGTATATATTCAT ACGAATATATGTGTATATATTCATACGAATATATGTGTATATATTCATAC GAATATATGTGTATATATTCATACGAATATATGTGTATATATTCATACGA ATATATGTGTATATATTCATACGAATATATGTGTATATATTCATACGAAT ATATGTGTATATATTCATACGAATATATGTGTATATATTCATACGAATAT ATGTGTATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCUBE1_chr22_43192280_43348372	43339661	T T	TCCCCCAC others(279): Show TCCCCCACTCTCCTCATTCTACCCCCCACAAGCATAGCTCCAACCCTCCC CCCACTCTCCTCATTCTATCCCCCCACAAGCATTGCTCCAACCCTCCCCC ACTCTCCTCATTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCCCAC TCTCCTCATTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCCCACTC TCCTCATTCTATCCCCCCACAAGCATCACTCCAACCCTCCCCCCACTCTC CTCATTCTATCCCCCCACAAGCATAGCTCCAACCCTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02818.hp1 HG02615.hp2 HG02818.hp1	a0001 a0002 a0001 a0002	a0001c0019 a0002c0002 a0001c0019 a0002c0002	a0001c0019t0008 a0002c0002t0002 a0001c0019t0008 a0002c0002t0002	a0001c0019t0008g0264 a0002c0002t0002g0263 a0001c0019t0008g0264 a0002c0002t0002g0263	2	277	0.0072	286	c.89- others(299): Show c.89-427_89-426insGAGGGTTGGAGCTATGCTTGTGGGGGGATAGA ATGAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAAT GAGGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGA GGAGAGTGGGGGGAGGGTTGGAGTGATGCTTGTGGGGGGATAGAATGAGG AGAGTGGGGGAGGGTTGGAGCAATGCTTGTGGGGGGATAGAATGAGGAGA GTGGGGGGAGGGTTGGAGCTATGCTTGTGGGGGGTAGAATGAGGAGAGTG GGGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43339864	A A	ACTATCCC others(279): Show ACTATCCCCCCACAAGCATCACTCCAACCCTCCCCTACTCTCCTCATTCT ACCCCCCCAACAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTA CCCCCCCCAAAGCATAGCTCCAACCCTCCCCCCACTCTCCTCATTCTATC CCCCCACAAGCATTGCTTCAACCCTCCCCCACGCTCCTCATTCTATCCCC CCACAAGCATCGCTCCAACCCTCCCCTACTCTCCTCACTCTATCCCCCCA CAAGCATCACTCCAACCCTCCCCCCACTCTCCTCATT	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0194 a0002c0002t0002g0194	1	120	0.0083	286	c.89- others(299): Show c.89-630_89-629insAATGAGGAGAGTGGGGGGAGGGTTGGAGTGAT GCTTGTGGGGGGATAGAGTGAGGAGAGTAGGGGAGGGTTGGAGCGATGCT TGTGGGGGGATAGAATGAGGAGCGTGGGGGAGGGTTGAAGCAATGCTTGT GGGGGGATAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTTGGG GGGGGTAGAATGAGGAGAGTGGGGGGAGGGTTGGAGCTATGCTTGTTGGG GGGGTAGAATGAGGAGAGTAGGGGAGGGTTGGAGTGATGCTTGTGGGGGG ATAG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	1/21			chr22	TogoVar
SEMA4D_chr9_89372235_89503113	89462954	G G	GGGAGCGA others(279): Show GGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGG GGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGC GAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGC GAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGG GAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGG AGGGGAGCGAGCGAGGGGAGGGGAGCGAGCGAGGGGA	intron_variant intron_variant	MODIFIER	HG01993.hp2 NA19068.hp2 HG01993.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0007 a0001c0001t0001 a0001c0003t0007	a0001c0001t0001g0261 a0001c0003t0007g0255 a0001c0001t0001g0261 a0001c0003t0007g0255	2	41	0.0488	286	c.-30 others(305): Show c.-309-7002_-309-7001insTCCCCTCGCTCGCTCCCCTCCCCTCG CTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCC CTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCC TCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCT CCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCT CGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCTCGCTCGCTCCCCTCCCCT CGCTCGCTCC	SEMA4D	ENSG00000187764.12	transcript	ENST00000422704.7	protein_coding	1/15			chr9	TogoVar
SERPINI1_chr3_167730721_167830569	167749339	A A	AGACATCT others(279): Show AGACATCTATGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	230	0.0043	286	c.-19 others(305): Show c.-19+13532_-19+13533insTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGGACATC TATGCTTTTT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SFMBT2_chr10_7153624_7416034	7378166	G G	GGATGGAT others(279): Show GGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT GGATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT GATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTG GATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTG GATGGATGGGTGTGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGTG TGAGTGTGGGTGTGTGTGGGTGTATGTGTGGATGGGT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0073 a0001c0002t0012g0073	1	142	0.0070	286	c.100 others(303): Show c.100+3632_100+3633insACCCATCCACACATACACCCACACACAC CCACACTCACACCCATCCACACATACACCCACACACACCCACACTCACAC CCATCCATCCACCCATCCACACATACACCCACACACACCCACACTCACAC CCATCCATCCACCCATCCACACATACACCCACACACACCCACACTCACAC CCATCCATCACCCATCCACACATACACCCACACACACCCACACTCACACC CATCCATCCACCCATCCACACATACACCCACACACACCCACACTCACACC CATCCATC	SFMBT2	ENSG00000198879.13	transcript	ENST00000397167.6	protein_coding	2/20			chr10	TogoVar
SHC2_chr19_411589_466033	431248	C C	CAGAGGAG others(279): Show CAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGA GTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGA GATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATC GTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGC ACTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGA TGGCACTTCATCGTGAGTGAGATCGTGAGTGAGAGTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	135	0.0074	286	c.111 others(303): Show c.1111-502_1111-501insAACTCTCACTCACGATCTCACTCACGAT GAAGTGCCATCTGCCCGGCCTCCTCTATCTCTCACTCACGATCTCACTCA CGATGAAGTGCCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGAT CTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAACTCTCA CTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCT AACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGG CCTCCTCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432120	T T	TAGATGGC others(279): Show TAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGC CGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATA GAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGT GAGAGATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGA TCGTGAGTGAGAGTTAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGT GAGTGAGATAGTGAGTGAGAGATAGAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0006 a0001c0006t0006	a0001c0006t0006g0010 a0001c0006t0006g0010	1	203	0.0049	286	c.111 others(305): Show c.1111-1374_1111-1373insGCCCGGCCTCCTCTATCTCTCACTCA CTATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCTCCTCTAACT CTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTC CTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGC CCCGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCAT CTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGA AGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	432528	G G	CATGGCGC others(279): Show CATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCG GGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGA GGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGA GAGATAGAGGAGGCGGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATC GTGAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGA GTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAG	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0145	1	209	0.0048	286	c.111 others(305): Show c.1111-1781_1111-1780insTGCCCGGCCTCCTCTAACTCTCACTC ACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTAAC TCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCCGCCT CCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTG CCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCA TCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATG AAGCGCCATG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433512	G G	GCTTCATC others(279): Show GCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGGCAGA TGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAGGCCGGG CAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GATAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGT GAGTGAGAGTTAGAGGAGGCCGGGCAGATAGATGGCA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0160 a0001c0002t0003g0160	1	183	0.0055	286	c.111 others(305): Show c.1110+1196_1110+1197insTGCCATCTATCTGCCCGGCCTCCTCT AACTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGG CCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTAT CTGCCCGGCCTCCTCTATCTCTCACTCACGATCTCACTCACGATGAAGCG CCATCTATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACG ATGAAGCGCCATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACT CACGATGAAG	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHC2_chr19_411589_466033	433560	G G	GATAGATG others(279): Show GATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGTTAGAGGAG GCCGGGCAGATGGCGCTTCATCGTGAGTGAGATAGTGAGTGAGAGATAGA GGAGGCCGGGCAGATACATGGCGCTTCATCGTGAGTGAGATCGTGAGTGA GAGTTAGAGGAGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATC GTGAGTGAGAGTTAGAGGAGGCCGGGCAGATGGCGCTTCATCGTGAGTGA GATAGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0007 a0001c0023t0007	a0001c0023t0007g0187 a0001c0023t0007g0187	1	207	0.0048	286	c.111 others(305): Show c.1110+1148_1110+1149insGTATCTGCCCGGCCTCCTCTATCTCT CACTCACTATCTCACTCACGATGAAGCGCCATCTGCCCGGCCTCCTCTAA CTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGGCC TCCTCTAACTCTCACTCACGATCTCACTCACGATGAAGCGCCATGTATCT GCCCGGCCTCCTCTATCTCTCACTCACTATCTCACTCACGATGAAGCGCC ATCTGCCCGGCCTCCTCTAACTCTCACTCACGATCTCACTCACGATGAAG CGCCATCTAT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SHISA9_chr16_12896598_13245416	13015951	T T	TTTCCCTT others(279): Show TTTCCCTTCCCTTCCTTTCCCTTCCCTTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCTTCCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTC CCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	76	0.0132	286	c.691 others(305): Show c.691+99150_691+99151insTTTCCCTTCCCTTCCCCTCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCTTCCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCC CTTCCCTTCC	SHISA9	ENSG00000237515.10	transcript	ENST00000558583.3	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
SIGIRR_chr11_400716_419999	401808	G G	GCCCCGCT others(279): Show GCCCCGCTCACACCCGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCC CGCTCACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGCCCCGC TCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCA CACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGCCCCGCTCACACC CGCCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACACCCGCC CCGCTCACCCCCAGCCCCGCTCACACCCGCCCCGCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp1 HG03492.hp2 HG03017.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0077 a0001c0001t0001g0011 a0001c0001t0001g0077	2	181	0.0110	286	c.40 others(297): Show c.4087_*4088insGAGCGGGGCGGGTGTGAGCGGGGCTGGGGGTGAG CGGGGCGGGTGTGAGCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGG GCGGGTGTGAGCGGGGCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGG GTGTGAGCGGGGCCGGGTGTGAGCGGGGCCGGGTGTGAGCGGGGCGGGTG TGAGCGGGGCGGGGGTGAGCGGGGCCGGGGGTGAGCGGGGCCGGGGGTGA GCGGGGCCGGGGGTGAGCGGGGCGGGTGTGAGCGGGGCGGGTGTGAGCGG GG	SIGIRR	ENSG00000185187.13	transcript	ENST00000431843.7	protein_coding		3907		chr11	TogoVar
SLAIN1_chr13_77692687_77769229	77704211	T T	TATGTTTT others(279): Show TATGTTTTATATGTATATATATACATAGAAAATATATGTACATATGTTTT ATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTAT ATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATATAC ATAGAAAATATATGTACATATGTTTTCTATGTATATATACATAGAAAATA TATGTACATATGTTTTATATGTATATATACATAGAAAATATATGTACATA TGTTTTATATGTATATATACATAGAAAATATATATAC	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0227 a0001c0001t0001g0227	1	181	0.0055	286	c.626 others(303): Show c.626+5692_626+5693insTACATAGAAAATATATGTACATATGTTT TATATGTATATATATACATAGAAAATATATGTACATATGTTTTATATGTA TATATATACATAGAAAATATATGTACATATGTTTTATATGTATATATATA CATAGAAAATATATGTACATATGTTTTCTATGTATATATACATAGAAAAT ATATGTACATATGTTTTATATGTATATATACATAGAAAATATATGTACAT ATGTTTTATATGTATATATACATAGAAAATATATATACATGTTTTATATG TATATATA	SLAIN1	ENSG00000139737.23	transcript	ENST00000418532.6	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr13	TogoVar
SLC22A31_chr16_89190761_89205537	89192847	G G	GCCCCCTC others(279): Show GCCCCCTCATTACCAGCCACGCCGCTTCCTCCCCAGCTCCGCCTCCTCCC TAACCCCGCCCCGTCATTACCAGCCACGCCGCTTACTCCCCAGCTCCGCC TCCTCCCTAACCCCGCCCCCTCATTACCAGCCACGCCGCTTCCTCCCCAG CTCCTCCTCCTCCCTAACCCCGCCCCGTCATTACCAGCCACGCCGCTTCC TCCCCAGCTCCGCCTCCTCCCTAACCCCGCCCCGTCATTACCAGCCACGC CGCTTCCTCCCCAGCTCCGCCTCCTCCCTAACCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0030 a0006c0011t0001g0030	1	324	0.0031	286	c.31 others(297): Show c.3151_*3152insGCGGGGTTAGGGAGGAGGCGGAGCTGGGGAGGAA GCGGCGTGGCTGGTAATGACGGGGCGGGGTTAGGGAGGAGGCGGAGCTGG GGAGGAAGCGGCGTGGCTGGTAATGACGGGGCGGGGTTAGGGAGGAGGAG GAGCTGGGGAGGAAGCGGCGTGGCTGGTAATGAGGGGGCGGGGTTAGGGA GGAGGCGGAGCTGGGGAGTAAGCGGCGTGGCTGGTAATGACGGGGCGGGG TTAGGGAGGAGGCGGAGCTGGGGAGGAAGCGGCGTGGCTGGTAATGAGGG GG	SLC22A31	ENSG00000259803.8	transcript	ENST00000682282.1	protein_coding		2913		chr16	TogoVar
SLC46A2_chr9_112873920_112895876	112895799	A A	ATCCACCC others(279): Show ATCCACCCACCCATCATCCATCCATCCCTCCATCCAACCCCCACCCATCA TCCATCCATCCATCCACCCATCCACCCACCCATCATCCATCCATCCATCC ACCCATCCACCCCACCCATCATCCATCCATCCCTCCATCCACCCATCCAC CCACCATCATCCATCCATCCATCCACCCATCCACCCACCCATCATCCATC CATCCCTCCATCCACCCATCCACCCCACCCATCATCCATCTATCCATTAA CCCACCCATCATCCACCCATCACCATCCATCACCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0017 a0006c0021t0017	a0006c0021t0017g0149 a0006c0021t0017g0149	1	444	0.0023	286	c.-51 others(297): Show c.-5119_-5118insGTGGGTGATGGATGGTGATGGGTGGATGATGGGT GGGTTAATGGATAGATGGATGATGGGTGGGGTGGATGGGTGGATGGAGGG ATGGATGGATGATGGGTGGGTGGATGGGTGGATGGATGGATGGATGATGG TGGGTGGATGGGTGGATGGAGGGATGGATGGATGATGGGTGGGGTGGATG GGTGGATGGATGGATGGATGATGGGTGGGTGGATGGGTGGATGGATGGAT GGATGATGGGTGGGGGTTGGATGGAGGGATGGATGGATGATGGGTGGGTG GA	SLC46A2	ENSG00000119457.8	transcript	ENST00000374228.5	protein_coding		4924		chr9	TogoVar
SLC5A9_chr1_48217716_48253638	48244736	A A	ATATATAT others(279): Show ATATATATAAATTATATTTATATTATATATAAATTATATTTATATTATAT ATAAATTATATTTATATTATATATAAATTATATTTATATTATATATAAAT TATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATT TATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATT ATATATAAATTATATTTATATTATATATAAATTATATTTATATTATATAT AAATTATATTTATATTATATATAAATTATATTTATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19091.hp2 NA19064.hp1 NA19091.hp2	a0002 a0018 a0002 a0018	a0002c0002 a0018c0015 a0002c0002 a0018c0015	a0002c0002t0003 a0018c0015t0003 a0002c0002t0003 a0018c0015t0003	a0002c0002t0003g0223 a0018c0015t0003g0210 a0002c0002t0003g0223 a0018c0015t0003g0210	2	67	0.0299	286	c.183 others(305): Show c.1837+2216_1837+2217insAATTATATTTATATTATATATAAATT ATATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTT ATATTATATATAAATTATATTTATATTATATATAAATTATATTTATATTA TATATAAATTATATTTATATTATATATAAATTATATTTATATTATATATA AATTATATTTATATTATATATAAATTATATTTATATTATATATAAATTAT ATTTATATTATATATAAATTATATTTATATTATATATAAATTATATTTAT ATTATATATA	SLC5A9	ENSG00000117834.13	transcript	ENST00000438567.7	protein_coding	13/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMOC2_chr6_168436184_168672992	168614944	A A	AGGGCCTC others(279): Show AGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGC CAGCACAGGGCCTCTTCACACCTACAGCCAGCACATGGAGCCTCTTCACA CCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTC TTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAG GGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCA GCACAGGGGGCCTCTTCACACCTACAGCCAGCACAGG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG03209.hp1 others(1): Show HG01884.hp1 HG01891.hp1 HG03209.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0002t0014 a0001c0001t0001 a0001c0002t0002 a0001c0002t0014	a0001c0001t0001g0141 a0001c0002t0002g0004 a0001c0002t0002g0036 others(1): Show a0001c0001t0001g0141 a0001c0002t0002g0004 a0001c0002t0002g0036 a0001c0002t0014g0005	4	172	0.0233	286	c.907 others(303): Show c.907+6706_907+6707insGGCCTCTTCACACCTACAGCCAGCACAG GGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCA GCACATGGAGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTTCACACC TACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGGCCTCTT CACACCTACAGCCAGCACAGGGCCTCTTCACACCTACAGCCAGCACAGGG CCTCTTCACACCTACAGCCAGCACAGGGGGCCTCTTCACACCTACAGCCA GCACAGGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMYD3_chr1_245744347_246512279	246072010	G G	GTTAGTTC others(279): Show GTTAGTTCTGGGGAGGGATTCATGTGCTTTCCACTGTGCTCACTGTGGAT GCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCAC TGTCTTTGCATCCTGTTAGTTCTGGGGAGGGATTCATGTGCTTTCCACTG TGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCATGTGCTT TCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCG TGTGCTTTCCACTGTGCTCACTGTCTTTGCATCCTGT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0002 a0001c0014t0002	a0001c0014t0002g0055 a0001c0014t0002g0055	1	45	0.0222	286	c.532 others(307): Show c.532-142074_532-142073insACAGGATGCAAAGACAGTGAGCAC AGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAG TGAGCACAGTGGAAAGCACATGAATCCCTCCCCAGAACTAACAGGAAGCA TCCACAGTGAGCACAGTGGAAAGCACATGAATCCCTCCCCAGAACTAACA GGATGCAAAGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGA ACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACATGAATCCCT CCCCAGAACTAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246072066	G G	GTTAGTTC others(279): Show GTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCACTGTGGAT GCTTCCTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCACTGTGCTCAC TGTCGCTGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTTTCCGCTG TGCTCACTGTCGCTGCATCGTGTTAGTTCTGGGGAGGGATTCGTGTGCTT TCCACTGTGCTCACTGTGGATGCTTCCTGTTAGTTCTGGGGAGGGATTCG TGTGCTTTCCACTGTGCTCACTGTGGATGCTTCCTGT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01109.hp1 HG01243.hp1 others(1): Show HG00733.hp2 HG01109.hp1 HG01243.hp1 HG02559.hp2	a0002 a0002	a0002c0007 a0002c0008 a0002c0007 a0002c0008	a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001	a0002c0007t0001g0141 a0002c0007t0004g0111 a0002c0008t0001g0112 others(1): Show a0002c0007t0001g0141 a0002c0007t0004g0111 a0002c0008t0001g0112 a0002c0008t0001g0145	4	55	0.0727	286	c.532 others(307): Show c.532-142130_532-142129insACAGGAAGCATCCACAGTGAGCAC AGTGGAAAGCACACGAATCCCTCCCCAGAACTAACAGGAAGCATCCACAG TGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGAACTAACACGATGCA GCGACAGTGAGCACAGCGGAAAGCACACGAATCCCTCCCCAGAACTAACA CGATGCAGCGACAGTGAGCACAGTGGAAAGCACACGAATCCCTCCCCAGA ACTAACAGGAAGCATCCACAGTGAGCACAGTGGAAAGCACACGAATCCCT CCCCAGAACTAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar

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