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
PRTN3_chr19_835999_853175	844262	C C	CCCCCGCC others(205): Show CCCCCGCCCGCGCCTCTCCCCTGCGCGCCTCTCCCCCGCCCGCGCCTCTC CCCCGCCCGCGCCTCTCCCCTGCCCGCGCCTCTCCCTTGCCCGCCCCTCT CCCCTGCCCCAGCCTCTCCCCTGCATGCCTCTCCCTTGCCCGCCCTCTCC CCTGCCCGCGCCTCTCCCCTGCGCGCCTCTCCCCCGCCGCGCCTCTCCCC CGCCCGCGCCTCT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0009 a0009	a0009c0007 a0009c0007	a0009c0007t0001 a0009c0007t0001	a0009c0007t0001g0166 a0009c0007t0001g0166	1	415	0.0024	212	c.369 others(227): Show c.369+231_369+232insCGCCCGCGCCTCTCCCCTGCGCGCCTCTCC CCCGCCCGCGCCTCTCCCCCGCCCGCGCCTCTCCCCTGCCCGCGCCTCTC CCTTGCCCGCCCCTCTCCCCTGCCCCAGCCTCTCCCCTGCATGCCTCTCC CTTGCCCGCCCTCTCCCCTGCCCGCGCCTCTCCCCTGCGCGCCTCTCCCC CGCCGCGCCTCTCCCCCGCCCGCGCCTCTCCC	PRTN3	ENSG00000196415.10	transcript	ENST00000234347.10	protein_coding	3/4		INFO_REALIGN_3_PRIME	chr19	TogoVar
PTPRT_chr20_42067756_43194906	42993506	A A	ATTTGTGT others(205): Show ATTTGTGTATATATATACATATATGTGTGTGTATATATATACATATGTGT GTGTGTATATATATACATATGTGTGTGTGTATATATACATATATATGTGT GTATATATACACATATATGTGTGTGTATATATACATATATGTGTATATAT ATACACACATATATGTGTATATATACACACACATATATGTGTATATATAC ACACACATATATG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0001 a0002c0013t0001	a0002c0013t0001g0016 a0002c0013t0001g0016	1	62	0.0161	212	c.89- others(231): Show c.89-107575_89-107574insCATATATGTGTGTGTATATATACACA TATATGTGTGTGTATATATACACATATATGTGTGTATATATATACACATA TATGTATATATACACACACATATATGTGTATATATACACACATATATATG TATATATACACACACACATATGTATATATATACACACACACATATGTATA TATATACACACACATATATGTATATATATACACAAA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42993506	A A	ATTTGTGT others(205): Show ATTTGTGTATATATATACATATATGTGTGTGTATATATATACATATGTGT GTGTGTATATATATACATATGTGTGTGTGTATATATACATATATATGTGT GTGTATATATACACATATATGTGTGTGTATATATACATATATGTGTATAT ATACACACATATATGTGTATATATACACACACATATATGTGTATATATAC ACACACATATATG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02897.hp2 NA21309.hp1 HG02647.hp1 HG02897.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0026 a0001c0029 a0002c0016 a0001c0026 a0001c0029 a0002c0016	a0001c0026t0007 a0001c0029t0013 a0002c0016t0030 a0001c0026t0007 a0001c0029t0013 a0002c0016t0030	a0001c0026t0007g0059 a0001c0029t0013g0057 a0002c0016t0030g0014 a0001c0026t0007g0059 a0001c0029t0013g0057 a0002c0016t0030g0014	3	62	0.0484	212	c.89- others(231): Show c.89-107575_89-107574insCATATATGTGTGTGTATATATACACA TATATGTGTGTGTATATATACACATATATGTGTGTATATATACACATATA TGTATATATACACACACATATATGTGTATATATACACACACATATATATG TATATATACACACACACATATGTATATATATACACACACACATATGTATA TATATACACACACATATATGTATATATATACACAAA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
RAB11FIP3_chr16_420649_528011	504446	T T	TCCTGTAC others(205): Show TCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACC ACCTCCTCCTGTACCGCCCTCACTTCCTCCTGTACCCCCTCACCTCCTCC TGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTTGTGCACCCCTC ACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTA CCCCCTCACCTCC	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0059 a0001c0012t0059	a0001c0012t0059g0107 a0001c0012t0059g0107	1	295	0.0034	212	c.139 others(231): Show c.1396-1078_1396-1077insCCTGTACCCCCTCACCTCCTCCTGTA CCCCCCTCACCTCTTCCTGTACCACCTCCTCCTGTACCGCCCTCACTTCC TCCTGTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCCTCCTGTACCC CCTCACCTCCTTGTGCACCCCTCACCTCCTGTACCCCCTCACCTCCTCCT GTACCCCCTCACCTCCTCCTGTACCCCCTCACCTCC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13			chr16	TogoVar
RAB3C_chr5_58578075_58864394	58597109	T T	TATATATA others(205): Show TATATATAATACATAATATATATTATATGATATATATAATACATTATATA TTATTATATAATATATATTATGTATTATATATATTATATAATATATATTA TGTATTATATTATTATATAATATATATGTATATATTATATAATATATATT ATGTATAATATATAATACATTATATATTATATAATATAGATAATACATAT ATATTATATAATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA20905.hp2 HG00738.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0063 a0001c0001t0001 a0001c0001t0063	a0001c0001t0001g0091 a0001c0001t0063g0084 a0001c0001t0001g0091 a0001c0001t0063g0084	2	220	0.0091	212	c.24+ others(229): Show c.24+13898_24+13899insTTATATGATATATATAATACATTATATA TTATTATATAATATATATTATGTATTATATATATTATATAATATATATTA TGTATTATATTATTATATAATATATATGTATATATTATATAATATATATT ATGTATAATATATAATACATTATATATTATATAATATAGATAATACATAT ATATTATATAATAATATATAATACATAATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RAD51C_chr17_58687602_58740611	58726561	C C	CATATGTA others(205): Show CATATGTATATATGTGTATACGTATAGATGTATATACATATGTATATATG TGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATAGA TGTATATACATATGTATATATGTGTATACGTATAGATGTATATACATATG TATATATGTGTATACGTATAGATGTATATACATATGTATATATGTGTATA CATATAGATGTAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 HG03490.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0042 a0001c0001t0001g0044	2	330	0.0061	212	c.965 others(229): Show c.965+2481_965+2482insGTATAGATGTATATACATATGTATATAT GTGTATACGTATAGATGTATATACATATGTATATATGTGTATACGTATAG ATGTATATACATATGTATATATGTGTATACGTATAGATGTATATACATAT GTATATATGTGTATACGTATAGATGTATATACATATGTATATATGTGTAT ACATATAGATGTATATATGTATATATGTGTATAC	RAD51C	ENSG00000108384.16	transcript	ENST00000337432.9	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr17	TogoVar
RALGAPA2_chr20_20384530_20717644	20458776	A A	ATATATAT others(205): Show ATATATATATAGACCTATATATATATAGACCTATATATATATAGACCTAT ATATATATAGACCTATATATATATAGACCTATATATATATAGACCTATAT ATATAGACCTATATATATAGACCTATATATATATAGACCTATATATATAG ACCTATATATATATAGACCTATATATATAGACCTATATATATATAGACCT ATATATATAGACC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0056 a0001c0001t0003g0056	1	122	0.0082	212	c.549 others(233): Show c.5495+14052_5495+14053insGGTCTATATATATAGGTCTATATA TATATAGGTCTATATATATAGGTCTATATATATATAGGTCTATATATATA GGTCTATATATATATAGGTCTATATATATAGGTCTATATATATAGGTCTA TATATATATAGGTCTATATATATATAGGTCTATATATATATAGGTCTATA TATATATAGGTCTATATATATATAGGTCTATATATATA	RALGAPA2	ENSG00000188559.16	transcript	ENST00000202677.12	protein_coding	37/39			chr20	TogoVar
RB1_chr13_48298751_48486890	48428096	T T	TTGGGGAG others(205): Show TTGGGGAGCACATTTCAACACGAGTCATCTTCTACCAAACCTCACCTCCA GCATTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACCTCACCT CCAGCATTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACCTCA CCTCCAGCACTGGGGAGCACACTTCAACACGAGTCATCTTCTACCAAACC TCACCTCCAGCAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 NA19030.hp2 NA19043.hp2 others(1): Show HG03453.hp1 NA19030.hp2 NA19043.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 others(1): Show a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262	4	306	0.0131	212	c.169 others(233): Show c.1696-24833_1696-24832insCTTCAACACGAGTCATCTTCTACC AAACCTCACCTCCAGCATTGGGGAGCACACTTCAACACGAGTCATCTTCT ACCAAACCTCACCTCCAGCACTGGGGAGCACACTTCAACACGAGTCATCT TCTACCAAACCTCACCTCCAGCACTGGGGAGCACATTTCAACACGAGTCA TCTTCTACCAAACCTCACCTCCAGCATTGGGGAGCACA	RB1	ENSG00000139687.16	transcript	ENST00000267163.6	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr13	TogoVar
RBCK1_chr20_403299_437139	420665	G G	GCCCACCC others(205): Show GCCCACCCCATCCCCCGTCCCCATCCCCCATCCCCCGTCCCCCGTCCCCA TCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCATCCCCCGTCCCCCGTC CCCCATCCCATCCCCCACCCCCATCCCCCGTCCCCCGTCCCCATCCCCCA TCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCATCTCCTGTCCCCCGTC CCCATCCCCCACC	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01884.hp1 HG02258.hp1 others(3): Show HG00642.hp1 HG01884.hp1 HG02258.hp1 HG02717.hp1 HG02976.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0356 a0001c0001t0006g0047 a0001c0001t0006g0048 others(1): Show a0001c0001t0001g0356 a0001c0001t0006g0047 a0001c0001t0006g0048 a0001c0001t0006g0355	6	452	0.0133	212	c.757 others(227): Show c.757-202_757-201insCCCCATCCCCCGTCCCCATCCCCCATCCCC CGTCCCCCGTCCCCATCCCCCGTCCCCCATCTCCTGTCCCCCGTCCCCAT CCCCCGTCCCCCGTCCCCCATCCCATCCCCCACCCCCATCCCCCGTCCCC CGTCCCCATCCCCCATCCCCCATCCCCATCCCCCGTCCCCCGTCCCCCAT CTCCTGTCCCCCGTCCCCATCCCCCACCCCCA	RBCK1	ENSG00000125826.22	transcript	ENST00000356286.10	protein_coding	6/11		INFO_REALIGN_3_PRIME	chr20	TogoVar
RETNLB_chr3_108750638_108762410	108759540	T T	TATGTATG others(205): Show TATGTATGTGTATGCATACATATGTATGTGTATGCATACGTATGTATGTA TGTGTATACATACGTATGTATGTATGTGTATACATACGTATGTATGTATG TGTATACATACGTATGTATGTGTATACATACGTATGTATGTGTATACATA CATATGTATGTATGTGTATACATACGTATGTATGTGTATACATACATACG TATGTATGTGTAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0002 a0001c0001t0003g0002	1	452	0.0022	212	c.-23 others(223): Show c.-2356_-2355insGTACACATACATACGTATGTATGTATACACATAC ATACGTATGTATACACATACATACATATGTATGTATACACATACATACGT ATGTATACACATACATACGTATGTATACACATACATACATACGTATGTAT ACACATACATACATACGTATGTATACACATACATACATACGTATGCATAC ACATACATATGTATGCATACACATACAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2131		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759562	C C	CATACGTA others(205): Show CATACGTATGTATGTATGTGTATACATACGTATGTATGTATGTGTATACA TACGTATGTATGTATGTGTATACATACGTATGTATGTGTATACATACGTA TGTATGTGTATACATACGTATGTATGTGTATACATACGTATGTATGTGTA TACATACATACGTATGTATGTGTATACATACGTATGTATGTGTATACATA CGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	212	c.-23 others(223): Show c.-2378_-2377insACACATACATACGTATGTATACACATACATACGT ATGTATACACATACATACGTATGTATGTATACACATACATACGTATGTAT ACACATACATACGTATGTATACACATACATACGTATGTATACACATACAT ACGTATGTATACACATACATACATACGTATGTATACACATACATACATAC GTATGTATACACATACATACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2153		chr3	TogoVar
RETNLB_chr3_108750638_108762410	108759610	C C	CATACGTA others(205): Show CATACGTATGTATGTGTATACATACGTATGTATGTGTATACATACATACG TATGTATGTGTATACATACATACGTATGTATGTGTATACATACGTATGTA TGTGTATACATACGTATGTATGTGTATACATACATATGTATGTATGTGTA TACATACATATGTATGTATGTGTATACATACGTATGTATGTGTATACATA CGTATGTATGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	452	0.0022	212	c.-24 others(223): Show c.-2426_-2425insACACATACATACGTATGTATACACATACATACGT ATGTATACACATACATACATATGTATGTATACACATACATACATATGTAT GTATACACATACATACGTATGTATACACATACATACGTATGTATACACAT ACATACGTATGTATGTATACACATACATACGTATGTATGTATACACATAC ATACGTATGTATACACATACATACGTAT	RETNLB	ENSG00000163515.7	transcript	ENST00000295755.7	protein_coding		2201		chr3	TogoVar
RFX3_chr9_3213297_3531001	3504958	T T	TATATATA others(205): Show TATATATAATATATCTTATATAATATATATAATGTATAATATATCTTATA TAATATATAATATATAATATATCTTATATAATATATAATATATAATATAT CTTATATAATATATAATATATCTTATATAATATATAATATATAATATATC TTATATAATATATAATATATCTTATATAATATATAATATATAATATATCT TATATAATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0084	1	196	0.0051	212	c.-9+ others(229): Show c.-9+20788_-9+20789insTATATATTATATAAGATATATTATATAT TATATATTATATAAGATATATTATATATTATATAAGATATATTATATATT ATATATTATATAAGATATATTATATATTATATAAGATATATTATATATTA TATATTATATAAGATATATTATATATTATATATTATATAAGATATATTAT ACATTATATATATTATATAAGATATATTATATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RGS12_chr4_3288021_3444913	3309275	G G	GGAGGAGC others(205): Show GGAGGAGCTGGGACCCGGGAATGGCAGGTGTCCTCTGAGGAGAGCTGAGC AGGAGAGGAGCTGGGACTCGGGAATGGCAGGTGTCCGCTGAGGGGAACCG TGCTGGGGAGGAGCTGGGACCCTGGAATGGCAGGTGTCCGCTGAGGGGAA CCGTGCAGGGGAGGAGCTGGGACCTGGGAATGGCAGGTGTCCTCTGAGGA GAGCTGAGCAGGA	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0003 a0003	a0003c0051 a0003c0051	a0003c0051t0001 a0003c0051t0001	a0003c0051t0001g0239 a0003c0051t0001g0239	1	312	0.0032	212	c.-10 others(231): Show c.-101-6782_-101-6781insCCGGGAATGGCAGGTGTCCTCTGAGG AGAGCTGAGCAGGAGAGGAGCTGGGACTCGGGAATGGCAGGTGTCCGCTG AGGGGAACCGTGCTGGGGAGGAGCTGGGACCCTGGAATGGCAGGTGTCCG CTGAGGGGAACCGTGCAGGGGAGGAGCTGGGACCTGGGAATGGCAGGTGT CCTCTGAGGAGAGCTGAGCAGGAGAGGAGCTGGGAC	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RGS12_chr4_3288021_3444913	3426074	C C	CGGGGCCA others(205): Show CGGGGCCAGTGCAGGGGAGGGGGCTGTGGGGTTGGCATAGGGGAGGGGGC GAGTGGGGCCAGTGCAGGGGAGGGGGCTGTGGGGTTGGCATAGGGGAGGG GGCGAGTGGGGCCAGTGCAGGGGAGGGGGCTGTGGGGTTGGCACAGGGGA GAGGGCGAGCGGGGCCAGTGCAGGGGAGGGGGCTGTGGGGTTGGCATAGG GGAGGGGGCGAGT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0068 a0001c0012t0001g0068	1	312	0.0032	212	c.333 others(229): Show c.3331+558_3331+559insGGGGCGAGTGGGGCCAGTGCAGGGGAGG GGGCTGTGGGGTTGGCATAGGGGAGGGGGCGAGTGGGGCCAGTGCAGGGG AGGGGGCTGTGGGGTTGGCACAGGGGAGAGGGCGAGCGGGGCCAGTGCAG GGGAGGGGGCTGTGGGGTTGGCATAGGGGAGGGGGCGAGTGGGGCCAGTG CAGGGGAGGGGGCTGTGGGGTTGGCATAGGGGAG	RGS12	ENSG00000159788.20	transcript	ENST00000336727.8	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr4	TogoVar
RHCG_chr15_89466407_89501583	89474828	T T	TCCTGCCT others(205): Show TCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTGCCTTC CTTCCTGCCTGCCTTCCTTCCTGCCTGCCTGCCTTCCTTCCTGCCTGCCT TCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTGCCTTCCTTCCTGCCTGC CTTCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCTGCCTTCCTTCCTGCCT GCCTTCCTTCCTG	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03516.hp1 HG02965.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0014 a0001c0001t0002g0014	2	360	0.0056	212	c.131 others(231): Show c.1311+1926_1311+1927insCAGGAAGGAAGGCAGGCAGGAAGGAA GGCAGGCAGGAAGGAAGGCAGGCAGGAAGGAAGGAAGGCAGGCAGGAAGG AAGGCAGGCAGGCAGGAAGGAAGGCAGGCAGGAAGGAAGGCAGGCAGGAA GGAAGGCAGGCAGGCAGGAAGGAAGGCAGGCAGGAAGGAAGGCAGGCAGG CAGGAAGGAAGGCAGGCAGGAAGGAAGGCAGGCAGG	RHCG	ENSG00000140519.14	transcript	ENST00000268122.9	protein_coding	9/10			chr15	TogoVar
RIPOR3_chr20_50581108_50696542	50666223	T T	TTTTCTTT others(205): Show TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTC TTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTCTT TTCTTTTCTTTTC	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	280	0.0036	212	c.3+2 others(227): Show c.3+24902_3+24903insGAAAAGAAAAGAAAAGAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA	RIPOR3	ENSG00000042062.13	transcript	ENST00000327979.8	protein_coding	1/21			chr20	TogoVar
RNF169_chr11_74743849_74847413	74785174	A A	ATATATAT others(205): Show ATATATATATGATATATATATATGATATATATATGATATATATATGATAT ATATATATGATATATATATGATATATATATATGATATATATATGATATAT ATATATGATATATATGATATATATATATGATATATATATGATATATATAT ATGATATATATATGATATATATATATGATATATATATGATATATATATAT GATATATATATGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0159 a0001c0001t0009g0159	1	354	0.0028	212	c.503 others(229): Show c.503-4443_503-4442insGATATATATATATGATATATATATGATA TATATATGATATATATATATGATATATATATGATATATATATATGATATA TATATGATATATATATATGATATATATGATATATATATATGATATATATA TGATATATATATATGATATATATATGATATATATATATGATATATATATG ATATATATATATGATATATATATGTTATATATAT	RNF169	ENSG00000166439.6	transcript	ENST00000299563.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
RNF169_chr11_74743849_74847413	74785211	A A	ATATATAT others(205): Show ATATATATATGATATATATATATGATATATATATGATATATATATATGAT ATATATATGATATATATATATGATATATATGATATATATATATGATATAT ATATGATATATATATATGATATATATATGATATATATATATGATATATAT ATGATATATATATATGATATATATATGTTATATATATATGATATATATAT GTTATATATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0160 a0001c0001t0009g0160	1	354	0.0028	212	c.503 others(229): Show c.503-4405_503-4404insATATATATATATGATATATATATGATAT ATATATATGATATATATATGATATATATATATGATATATATGATATATAT ATATGATATATATATGATATATATATATGATATATATATGATATATATAT ATGATATATATATGATATATATATATGATATATATATGTTATATATATAT GATATATATATGTTATATATATATTATATATATG	RNF169	ENSG00000166439.6	transcript	ENST00000299563.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr11	TogoVar
RPA2_chr1_27886524_27919575	27917004	T T	TTCCTCCC others(205): Show TTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCC TTCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCC TCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTCCTTCCTTCC TCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTCCTTCCTTCCTCCCTCC CTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	364	0.0028	212	c.-25 others(223): Show c.-2562_-2561insGGAAGGAAGGAAGGGAGGGAGGAAGGAAGGAGGA AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGA AGGAAGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAGGAAGGAGGAAGGA AGGAAGGGAGGGAGGGAGGGAGGGAGGAAGGAAGGAGGAAGGAGGAAGGA AGGAAGGGAGGGAGGGAGGGAGGGAGGA	RPA2	ENSG00000117748.10	transcript	ENST00000373912.8	protein_coding		2430		chr1	TogoVar
RPH3AL_chr17_207389_357807	315225	C C	CCCCACCT others(205): Show CCCCACCTCCACTGACCTGTAGTCCCTGTGCCCCACCTCCACTGACCTGT AGTCCCTGTGCTCCACCTCCACTGACCTGTAGTCCCTGTGCTCCACCTCC ACTGACCTGCAGTCCCTGTGCCCCCACCTCCATTGACCTGTAATCCCTGT GACTCCACCTCCATTGACCTGTAGTCCCTGTGACTCCACCTCCACTGACG TGTAGTCCCTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp1 others(25): Show HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG01255.hp1 HG01258.hp2 HG01978.hp2 HG02027.hp1 HG02074.hp2 HG02080.hp2 HG02135.hp1 HG02155.hp1 HG03831.hp2 HG04184.hp1 NA18612.hp1 NA18940.hp1 NA18947.hp2 NA18951.hp2 NA18959.hp1 NA18963.hp1 NA18995.hp2 NA18999.hp1 NA19004.hp1 NA19056.hp1 NA19079.hp1 NA19079.hp2 NA19088.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0023	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0014 a0001c0001t0019 a0001c0001t0032 a0001c0002t0001 a0001c0009t0001 a0001c0023t0007	a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 others(25): Show a0001c0001t0001g0009 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0001t0001g0091 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0128 a0001c0001t0002g0010 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0079 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0116 a0001c0001t0004g0039 a0001c0001t0011g0003 a0001c0001t0011g0056 a0001c0001t0014g0025 a0001c0001t0019g0011 a0001c0001t0019g0012 a0001c0001t0032g0004 a0001c0002t0001g0057 a0001c0009t0001g0044 a0001c0023t0007g0026	28	133	0.2105	212	c.351 others(229): Show c.351+4194_351+4195insCACAGGGACTACACGTCAGTGGAGGTGG AGTCACAGGGACTACAGGTCAATGGAGGTGGAGTCACAGGGATTACAGGT CAATGGAGGTGGGGGCACAGGGACTGCAGGTCAGTGGAGGTGGAGCACAG GGACTACAGGTCAGTGGAGGTGGAGCACAGGGACTACAGGTCAGTGGAGG TGGGGCACAGGGACTACAGGTCAGTGGAGGTGGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	317207	C C	CCACCTCC others(205): Show CCACCTCCATTGACCTGCAGTGCCTGTGCTCCACCTCCATTGACCTGCAG TCCCTGTGCCCCACCTCCATTGACCTGTAGTCTCTCTGTCCCACCTCCAT TGACCTTTAGTCCATGTGCCCCACCTCCATTGACCTGAAGTCCTGTGCCC CCACCTCCATTGACCTGTAGTCCCTGTGGCCCACGTCCATTGACTTGTAG TCTCTGTGCTCCA	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0051 a0001c0001t0003g0051	1	133	0.0075	212	c.351 others(229): Show c.351+2212_351+2213insTGGAGCACAGAGACTACAAGTCAATGGA CGTGGGCCACAGGGACTACAGGTCAATGGAGGTGGGGGCACAGGACTTCA GGTCAATGGAGGTGGGGCACATGGACTAAAGGTCAATGGAGGTGGGACAG AGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTGCAGGTCAATGGA GGTGGAGCACAGGCACTGCAGGTCAATGGAGGTG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
RPH3AL_chr17_207389_357807	317379	C C	CCCTGTGG others(205): Show CCCTGTGGCCCCACGTCCATTGACTTGTAGTCTCTGTGCTCCACACCTCC TTGACCTGCAGTGCCTGTGCTCCACCTCCATTGACCTGCAGTCCCTGTGC CCCACCTCCATTGACCTGTAGTCTCTCTGTCCCACCTCCATTGACCTTTA GTCCATGTGCCCCACCTCCATTGACCTGAAGTCCCTGTGCCCCCACCTCC ATTGACCTGTAGT	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0042 a0001c0001t0008g0042	1	133	0.0075	212	c.351 others(229): Show c.351+2040_351+2041insACTACAGGTCAATGGAGGTGGGGGCACA GGGACTTCAGGTCAATGGAGGTGGGGCACATGGACTAAAGGTCAATGGAG GTGGGACAGAGAGACTACAGGTCAATGGAGGTGGGGCACAGGGACTGCAG GTCAATGGAGGTGGAGCACAGGCACTGCAGGTCAAGGAGGTGTGGAGCAC AGAGACTACAAGTCAATGGACGTGGGGCCACAGG	RPH3AL	ENSG00000181031.16	transcript	ENST00000331302.12	protein_coding	5/9			chr17	TogoVar
SART1_chr11_65956734_65985137	65971425	T T	TGCTGAGG others(205): Show TGCTGAGGAGGGGGATGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGG GATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAGGAGGGG GATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATTCATGAG CTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGGGGGATG GTGGGATTCATGA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0002 a0001c0021t0002	a0001c0021t0002g0161 a0001c0021t0002g0161	1	384	0.0026	212	c.157 others(231): Show c.1572+3621_1572+3622insGATTCATGAGCTGCTGAGGAGGGGGA TGGTGGGATTCATGAGCTGAGGAGGGGGATGGTGGGATTCATGAGCTGAG GAGGGGGATGGTGGGATTCATGAGCTGCTGAGGAGGGGGATGGTGGGATT CATGAGCTGCTGAGGAGGGGGATGGTGGGATTCAGGAGCTGCTGAGGAGG GGGATGGTGGGATTCATGAGCTGAGGAGGGGGATGG	SART1	ENSG00000175467.15	transcript	ENST00000312397.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
SAT1_chrX_23778173_23791210	23780122	C C	CACACATA others(205): Show CACACATATATATGTGTATATATATACGTATATATACACACATATATATG TGTATATATATATACGTATATATACACACATATATATGTGTATATATATA CGTATATATATACACATATATATGTGTATATATATACGTATATATACACA TATATATGTGTATATATACGTATATATATACACATATATATGTGTATATA TACGTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0023 a0003c0004t0001g0023	1	330	0.0030	212	c.-32 others(223): Show c.-3230_-3229insACACATATATATGTGTATATATATACGTATATAT ACACACATATATATGTGTATATATATATACGTATATATACACACATATAT ATGTGTATATATATACGTATATATATACACATATATATGTGTATATATAT ACGTATATATACACATATATATGTGTATATATACGTATATATATACACAT ATATATGTGTATATATACGTATATATAT	SAT1	ENSG00000130066.17	transcript	ENST00000379270.5	protein_coding		3050		chrX	TogoVar
SCARB1_chr12_124771856_124868864	124839675	C C	CGCACCCT others(205): Show CGCACCCTCACCCCCAACAGCACACATGGGCCCCGATTTCGATTTCTCCG CACCCTCACCCCAACAGCACACATGGGCCCCGATTTCTCCGCACACTCAC CCCAACGGCACACATGGGCCCCGATTTCTCCGCACACTCACCCCAACGGC ACACATGGGCCCCGATTTCTCTGCACCCTCACCCCAACAGCACACATGGG CCCCGATTTCTCT	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0309 a0001c0001t0002g0309	1	356	0.0028	212	c.127 others(231): Show c.127-21969_127-21968insAGAGAAATCGGGGCCCATGTGTGCTG TTGGGGTGAGGGTGCAGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGA GTGTGCGGAGAAATCGGGGCCCATGTGTGCCGTTGGGGTGAGTGTGCGGA GAAATCGGGGCCCATGTGTGCTGTTGGGGTGAGGGTGCGGAGAAATCGAA ATCGGGGCCCATGTGTGCTGTTGGGGGTGAGGGTGC	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCNN1D_chr1_1275436_1297025	1284177	T T	TTGGGTGA others(205): Show TTGGGTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTGAGGGGGGTGGGGG GGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGTTGGGTGAGGGGGG TGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTGGGTGAGGGGGGTG GGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGGGGGTGGGGGGGGT TGGGTGAGGGGGG	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0004 a0008c0007t0004	a0008c0007t0004g0285 a0008c0007t0004g0285	1	290	0.0035	212	c.464 others(225): Show c.464+91_464+92insTGAGGGGGGTGGGGTCGGGGGGGGGTTGAGTG AGGGGGGTGGGGGGGTTGGGTGGGGGGTTGGGTGAGGGGGTTGGGGGGGT TGGGTGAGGGGGGTGGGGGGTTGGGTGAGGGGGGTGGGGTGGGGGGGTTG GGTGAGGGGGGTGGGGTGTTGGGTGAGGGGTTGGGGGGGTTGGGTGAGGG GGGTGGGGGGGGTTGGGTGAGGGGGGTGGG	SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	5/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDK1_chr7_3296252_4274000	3975957	G G	GCAGAGGG others(205): Show GCAGAGGGTCCTCCAGAGAATCACTGGGGGTCCCGGGGCTGAGGCTGCCA CGCAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCC ACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGC CACGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTG CGAGGCTGCCACA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0010 a0010	a0010c0080 a0010c0080	a0010c0080t0054 a0010c0080t0054	a0010c0080t0054g0073 a0010c0080t0054g0073	1	116	0.0086	212	c.199 others(231): Show c.1994+1437_1994+1438insGGGGTCCCGGGGCTGAGGCTGCCACG CAGACGGTCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCAC GCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCCA CGCAGAGGATCCTCCAGAGAATCACTGAGGGTCCCGGGGCTGAGGCTGCG AGGCTGCCACACAGAGGGTCCTCCAGAGAATCACTG	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	13/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SEL1L2_chr20_13844247_13995614	13934433	C C	CATATATA others(205): Show CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCATATATATATATTCCATATATATATATTCCATATATATA TATTCCATATATATATATTCCATATATATATATTCCATATATATATATTC CATATATATATATTCCATATATATATATTCCATATATATATATTCCATAT ATATATATTCCAT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0317 a0001c0001t0001g0317	1	324	0.0031	212	c.115 others(229): Show c.115-2663_115-2662insATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATATGGAATATATATATATG GAATATATATATATGGAATATATATATATGGAATATATATATATGGAATA TATATATATGGAATATATATATATGGAATATATATATATGGAATATATAT ATATGGAATATATATATATGGAATATATATATAT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SFI1_chr22_31491536_31623588	31601973	T T	TTTTTTTT others(205): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCCAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG06807.hp1 HG01891.hp1 HG06807.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0157 a0006c0013t0001g0158 a0006c0013t0001g0157 a0006c0013t0001g0158	2	322	0.0062	212	c.154 others(229): Show c.1545-239_1545-238insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGC GGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTT CACGCCATTCTCCTGCCTCAGCCTCCCCAGTAGCTGGGACTACAGGCGCC CGCCACCGCGCCCGGCTAATTTTTTGTATTTTTA	SFI1	ENSG00000198089.16	transcript	ENST00000400288.7	protein_coding	15/32			chr22	TogoVar
SHC2_chr19_411589_466033	432468	T T	TAGATGGC others(205): Show TAGATGGCGCTTCATCGTGAGTGAGAGATAGAGGAGGCCGGGCAGATAGA TGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGAGATAGAGGAGGCCGGG CAGATAGATGGCGCTTCATCATGAGTGAGATCGTGAGTGAGAGATAGAGG AGGCCGGGCAGATAGATGGCGCTTCATCGTGAGTGAGATCGTGAGTGAGA GAGGAGGCCGGGC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0089 a0001c0002t0001g0089	1	212	0.0047	212	c.111 others(231): Show c.1111-1722_1111-1721insGCCCGGCCTCCTCTCTCACTCACGAT CTCACTCACGATGAAGCGCCATCTATCTGCCCGGCCTCCTCTATCTCTCA CTCACGATCTCACTCATGATGAAGCGCCATCTATCTGCCCGGCCTCCTCT ATCTCTCACTCACGATCTCACTCACGATGAAGCGCCATCTATCTGCCCGG CCTCCTCTATCTCTCACTCACGATGAAGCGCCATCT	SHC2	ENSG00000129946.11	transcript	ENST00000264554.11	protein_coding	8/12			chr19	TogoVar
SLC27A5_chr19_58493333_58516992	58502464	C C	CAGAGTAG others(205): Show CAGAGTAGTGAGTGAGAAGATGGATGGGTGAACAGTTAGAGTAGTGAGTG AGTGGATGGATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGG TGGACAGAGTAGTGAGTGAGAAGATGGATGGGTGAACAGTTAGAGTAGTG AGTGAGTAGATGGATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATGGA TGGGTGGACAGTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	424	0.0024	212	c.105 others(231): Show c.1058-1055_1058-1054insAACTGTCCACCCATCCATCTACTCAC TCACTACTCTAACTGTCCACCCATCCATCTACTCACTCACTACTCTAACT GTTCACCCATCCATCTTCTCACTCACTACTCTGTCCACCCATCCATCTAC TCACTCACTACTCTAACTGTCCACCCATCCATCCACTCACTCACTACTCT AACTGTTCACCCATCCATCTTCTCACTCACTACTCT	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC27A5_chr19_58493333_58516992	58502563	G G	GTGGACAG others(205): Show GTGGACAGAGTAGTGAGTGAGAAGATGGATGGGTGAACAGTTAGAGTAGT GAGTGAGTAGATGGATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATGG ATGGGTGGACAGTTAGAGTAGTGAGTGAGTAGATGGATGGGTGGACAGTT AGAGTAGTGAGTGAGTAGATGGATGGCTGGACAGTTAGAGTAGTGAGTGA GTAGATGGATGGC	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	424	0.0024	212	c.105 others(231): Show c.1058-1154_1058-1153insGCCATCCATCTACTCACTCACTACTC TAACTGTCCAGCCATCCATCTACTCACTCACTACTCTAACTGTCCACCCA TCCATCTACTCACTCACTACTCTAACTGTCCACCCATCCATCTACTCACT CACTACTCTAACTGTCCACCCATCCATCTACTCACTCACTACTCTAACTG TTCACCCATCCATCTTCTCACTCACTACTCTGTCCA	SLC27A5	ENSG00000083807.10	transcript	ENST00000263093.7	protein_coding	3/9			chr19	TogoVar
SLC46A2_chr9_112873920_112895876	112895808	C C	CCATCCAT others(205): Show CCATCCATCCCTCCATCCACCCCACCCATCATCCATCCATCCATCCACCC ATCCACCCACCCATCATCCATCCATCCACCCATCCACCCACCCATCATCC ATCCATCCCTCCATCCACCCATCCACCCACCCATCATCCATCCATCCATC CATCCACCCATCCACCCACCCATCATCCATCCATCCCTCCATCCACCCAT CCACCCCACCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(142): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01261.hp1 HG01358.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02258.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp2 HG02523.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp2 HG03017.hp2 HG03139.hp1 HG03453.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp2 NA18522.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19005.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19077.hp2 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0009	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0015 a0002c0004 a0003c0008 a0009c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0003t0003 a0001c0005t0009 a0001c0015t0001 a0002c0004t0008 a0003c0008t0002 a0009c0016t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(74): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0033 a0001c0001t0002g0112 a0001c0001t0002g0127 a0001c0001t0005g0011 a0001c0001t0005g0180 a0001c0001t0005g0181 a0001c0001t0005g0182 a0001c0001t0005g0183 a0001c0001t0006g0038 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0071 a0001c0002t0001g0009 a0001c0003t0003g0195 a0001c0005t0009g0036 a0001c0015t0001g0080 a0002c0004t0008g0075 a0003c0008t0002g0025 a0009c0016t0001g0081	145	446	0.3251	212	c.-51 others(223): Show c.-5128_-5127insATGGGTGGGGTGGATGGGTGGATGGAGGGATGGA TGGATGATGGGTGGGTGGATGGGTGGATGGATGGATGGATGGATGATGGG TGGGTGGATGGGTGGATGGAGGGATGGATGGATGATGGGTGGGTGGATGG GTGGATGGATGGATGATGGGTGGGTGGATGGGTGGATGGATGGATGGATG ATGGGTGGGGTGGATGGAGGGATGGATG	SLC46A2	ENSG00000119457.8	transcript	ENST00000374228.5	protein_coding		4933		chr9	TogoVar
SLC8A1_chr2_40092270_40457090	40200173	G G	GATATATA others(205): Show GATATATATATATATATATTTATATATATATAAATATATATATTTATATA TATATATAAATATATATATATATTTATATATATATATAAATATATATATA TATATATATAAATATATATATATTTATATATATATATAAATATATATATA TTTATATATATATATAAATATATATATATTTATATATATATATAAATATA TATATATATTTAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0117 a0001c0001t0117	a0001c0001t0117g0171 a0001c0001t0117g0171	1	236	0.0042	212	c.180 others(233): Show c.1809-21681_1809-21680insATAAATATATATATATATTTATAT ATATATATAAATATATATATATTTATATATATATATAAATATATATATAT TTATATATATATATAAATATATATATATTTATATATATATATATATATAT TTATATATATATATAAATATATATATATATTTATATATATATATAAATAT ATATATTTATATATATATAAATATATATATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200243	T T	TATATATA others(205): Show TATATATATATTTATATATATATATAAATATATATATATATTTATATATA TATATAAATATATATATATTTATATATATATATATAAATATATATATATT TATATATATATATAAATATATATATATTTATATATATATATAAATATATA TATTTATATATATATATAAATATATATATATATTTATATATATAAATATA TATATATATATAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0007 a0002c0005t0007	a0002c0005t0007g0179 a0002c0005t0007g0179	1	236	0.0042	212	c.180 others(233): Show c.1809-21751_1809-21750insTTATATATATATATATATTTATAT ATATAAATATATATATATATTTATATATATATATAAATATATATATTTAT ATATATATATAAATATATATATATTTATATATATATATAAATATATATAT ATTTATATATATATATATAAATATATATATATTTATATATATATATAAAT ATATATATATATTTATATATATATATAAATATATATAT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC9A2_chr2_102614553_102716355	102695781	T T	TATATATT others(205): Show TATATATTATATATATATATAATATATATTATATATATTATATATATATA ATATATATTATATATATATTATATATAATATATATTATATATATATTATA TATATAATATATAATATATATATTATATATATATAATATATATTATATAT ATTATATATATATAATATATATTATATATATTATATATATATAATATATA TTATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0117 a0001c0001t0031g0117	1	344	0.0029	212	c.158 others(229): Show c.1586+674_1586+675insTATATATATATATAATATATATTATATA TATTATATATATATAATATATATTATATATATATTATATATAATATATAT TATATATATATTATATATATAATATATAATATATATATTATATATATATA ATATATATTATATATATTATATATATATAATATATATTATATATATTATA TATATATAATATATATTATATATATATAATATAT	SLC9A2	ENSG00000115616.3	transcript	ENST00000233969.3	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965213	A A	ATCCTCCT others(205): Show ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCT GGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTC CTCCTCCTGGTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGA CCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCC TCCTGGTCCCCAG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0050 a0006c0009t0001g0050	1	190	0.0053	212	c.72+ others(229): Show c.72+14252_72+14253insGGTCCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTG GTCCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAGTCCT CCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGAC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	965252	A A	ATCCTCCT others(205): Show ATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCCTCCTCCTG GTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCC TCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTC CCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCC TCCTGGTCCCCAG	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA20905.hp1 HG02451.hp2 NA20905.hp1	a0001 a0015 a0001 a0015	a0001c0001 a0015c0025 a0001c0001 a0015c0025	a0001c0001t0001 a0015c0025t0001 a0001c0001t0001 a0015c0025t0001	a0001c0001t0001g0038 a0015c0025t0001g0034 a0001c0001t0001g0038 a0015c0025t0001g0034	2	190	0.0105	212	c.72+ others(229): Show c.72+14213_72+14214insGGTCCCCAATCCTCCTCCTGGTCCCCAG TCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTT GGACCCCAATCCTCCTCCTGGTCCCCAGTCCTCCTCCTGGTCCCCAATCC TCCTCCTGGTCCCCAGTCCTCCTCCTTGGACCCCAATCCTCCTCCTGGTC CCCAGTCCTCCTCCTGGTCCCCAGTCCTCCTCCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222021	G G	GTCTCTCT others(205): Show GTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTCTCTCTCTGTCTCTCT CTGTCTCTCTGTCTCTGTCTCTGTTTCTCTCTGTCTCTGCCTATCTCTGT CTCTGTTTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTCTGTCTCT CTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCTCTCTGTCT CTGTCTCTGTCTC	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	190	0.0053	212	c.719 others(231): Show c.719+12796_719+12797insCTCTGTCTCTGCCTATCTCTGTCTCT GTCTCTCTCTGTCTCTCTCTGTCTCTCTGTCTCTGTCTCTGTTTCTCTCT GTCTCTGCCTATCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCTGTCTCT CTCTGTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGT CTCTGTTTCTCTCTGTCTCTGTCTCTGTCTCTCTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SNTG2_chr2_945849_1372613	1222127	C C	CTCTGCCT others(205): Show CTCTGCCTATCTCTGTCTCTGCCTCTCTCTGTCTCTGTCTCTCTCTCTCT GTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTCTCTGTCTCTGCCTATCT CTGTCTCTGTTTCTCTCTGTCTCTGTCTCTGTCTCTCTCTGTCTCTCTGT CTCTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCTCTCTGTCTCTGTCT CTCTGTCTCTCTG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02258.hp2 HG02145.hp1 HG02258.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0150 a0004c0004t0001g0151 a0004c0004t0001g0150 a0004c0004t0001g0151	2	190	0.0105	212	c.719 others(231): Show c.719+12900_719+12901insGCCTATCTCTGTCTCTGCCTCTCTCT GTCTCTGTCTCTCTCTCTCTGTCTCTGTCTCTCTCTGTCTCTCTCTGTCT CTCTCTGTCTCTGCCTATCTCTGTCTCTGTTTCTCTCTGTCTCTGTCTCT GTCTCTCTCTGTCTCTCTGTCTCTCTCTGTCTCTGCCTATCTCTGTCTCT GTTTCTCTCTGTCTCTGTCTCTCTGTCTCTCTGTCT	SNTG2	ENSG00000172554.12	transcript	ENST00000308624.10	protein_coding	9/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
SOAT1_chr1_179288797_179363680	179353209	A A	ATATATAT others(205): Show ATATATATATAAATATAAATATATATATAAATATATATATATATTTATAT ATATAAATATATATATATTTATATATATTTATATATATAAATATATATAT TTATATATATATTTATATATATTTATATATATAAATATATATATTTATAT ATATATTTATATATATTTATATATATAAATATATATATTTATATATATAA ATATATATATATT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02809.hp1 HG02818.hp2 others(3): Show HG02145.hp1 HG02809.hp1 HG02818.hp2 HG02970.hp2 HG03041.hp2 NA19030.hp2	a0001 a0005 a0007 a0001 a0005 a0007	a0001c0004 a0005c0010 a0007c0018 a0001c0004 a0005c0010 a0007c0018	a0001c0004t0022 a0001c0004t0035 a0001c0004t0077 others(3): Show a0001c0004t0022 a0001c0004t0035 a0001c0004t0077 a0005c0010t0022 a0005c0010t0035 a0007c0018t0022	a0001c0004t0022g0361 a0001c0004t0035g0363 a0001c0004t0077g0362 others(3): Show a0001c0004t0022g0361 a0001c0004t0035g0363 a0001c0004t0077g0362 a0005c0010t0022g0364 a0005c0010t0035g0366 a0007c0018t0022g0365	6	382	0.0157	212	c.159 others(229): Show c.1597-366_1597-365insAATATAAATATATATATAAATATATATA TATATTTATATATATAAATATATATATATTTATATATATTTATATATATA AATATATATATTTATATATATATTTATATATATTTATATATATAAATATA TATATTTATATATATATTTATATATATTTATATATATAAATATATATATT TATATATATAAATATATATATATTTATATATATA	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SPAAR_chr9_35904490_35916686	35914196	T T	TTGCTGTG others(205): Show TTGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAGTGTGTGTGTTTTTGT ATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGTGTTT TTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGTGTGT GTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAGTGAGTGT GTGTGTTTTTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03516.hp1 HG03130.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	2	420	0.0048	212	c.35 others(223): Show c.3505_*3506insTGCTGTGGTGTGTGTGTAAGCTGTATGTGTGTAG TGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGTGTAG TGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTATGTGT GTAGTGAGTGTGTGTGTTTTTGTATGCTGTGGTGTGTGTGTAAGTTGTAT GTGTGTAGTGAGTGTGTGTGTTTTTGTA	SPAAR	ENSG00000235387.5	transcript	ENST00000443779.3	protein_coding		2511		chr9	TogoVar
SPATC1L_chr21_46156160_46189459	46161017	G G	GGTGGGGG others(205): Show GGTGGGGGAGGTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGAAG GGGGAGGGGGAAGGGGGGAGGGGGAAGGGGAGAGGGAAGGGGGGAGGGGG AAGGGGAGGGGGAAGGGGGAGAGGGGAGGGGGAGGGGGGACGGGGGGGAG GGGGGAGGGGGAGGGGAGGGGGAGGGGGAAGCGGGACCGGGGGAGGGGAG AGGGGGAGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0022 a0001c0003t0005g0022	1	251	0.0040	212	c.36 others(221): Show c.361_*362insTCCCCCTCCCCCTCTCCCCTCCCCCGGTCCCGCTTC CCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCGTCCCCCCTCCCCC TCCCCTCTCCCCCTTCCCCCTCCCCTTCCCCCTCCCCCCTTCCCTCTCCC CTTCCCCCTCCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCCTTCCCCCT CCCCCTTCCCCCTCCACCTCCCCCAC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		142		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161017	G G	GGTGGGGG others(205): Show GGTGGGGGAGGTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGAAG GGGGAGGGGGAAGGGGGGAGGGGGAAGGGGAGGGGGAAGGGGGGAGGGGG AAGGGGAGGGGGAAGGGGGAGAGGGGAGGGGGAGGGGGGACGGGGGGGAG GGGGGAGGGGGAGGGGAGGGGGAGGGGGAAGCGGGACCGGGGGAGGGGAG AGGGGGAGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG02896.hp1 HG03239.hp2 HG01981.hp1 HG02896.hp1 HG03239.hp2	a0001 a0021 a0001 a0021	a0001c0003 a0021c0029 a0001c0003 a0021c0029	a0001c0003t0005 a0021c0029t0005 a0001c0003t0005 a0021c0029t0005	a0001c0003t0005g0023 a0001c0003t0005g0029 a0021c0029t0005g0020 a0001c0003t0005g0023 a0001c0003t0005g0029 a0021c0029t0005g0020	3	251	0.0120	212	c.36 others(221): Show c.361_*362insTCCCCCTCCCCCTCTCCCCTCCCCCGGTCCCGCTTC CCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCGTCCCCCCTCCCCC TCCCCTCTCCCCCTTCCCCCTCCCCTTCCCCCTCCCCCCTTCCCCCTCCC CTTCCCCCTCCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCCTTCCCCCT CCCCCTTCCCCCTCCACCTCCCCCAC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		142		chr21	TogoVar
SPATC1L_chr21_46156160_46189459	46161017	G G	GGTGGGGG others(205): Show GGTGGGGGAGGTGGAGGGGGAAGGGGGAGGGGGAAGGGGGGAGGGGGAAG GGGGAGGGGGAAGGGGGGAGGGGGGAGGGGAGGGGGAAGGGGGGAGGGGG AAGGGGAGGGGGAAGGGGGAGAGGGGAGGGGGAGGGGGGACGGGGGGGAG GGGGGAGGGGGAGGGGAGGGGGAGGGGGAAGCGGGACCGGGGGAGGGGAG AGGGGGAGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0021 a0001c0003t0005g0021	1	251	0.0040	212	c.36 others(221): Show c.361_*362insTCCCCCTCCCCCTCTCCCCTCCCCCGGTCCCGCTTC CCCCTCCCCCTCCCCTCCCCCTCCCCCCTCCCCCCCGTCCCCCCTCCCCC TCCCCTCTCCCCCTTCCCCCTCCCCTTCCCCCTCCCCCCTTCCCCCTCCC CTCCCCCCTCCCCCCTTCCCCCTCCCCCTTCCCCCTCCCCCCTTCCCCCT CCCCCTTCCCCCTCCACCTCCCCCAC	SPATC1L	ENSG00000160284.15	transcript	ENST00000291672.6	protein_coding		142		chr21	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(205): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTCCCCTCCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCCTCCCT TCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTT CCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	418	0.0024	212	c.54 others(223): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGGAGGGTGGTGG GAGGAGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPDYE4_chr17_8745853_8763546	8746874	C C	CCCTTCCC others(205): Show CCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTTCCCTC CCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCCCCCCCCTCCCCTCCTCCTCCCACCACCCTCCCCCTCCCT TCCCCCTCCCCTTCCCTCTCCCCTCCTCCTCTCCCTCCCCCTCCCGCTTT CCCACCCCTCTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	212	c.54 others(223): Show c.5407_*5408insAGAGAGGGGTGGGAAAGCGGGAGGGGGAGGGAGA GGAGGAGGGGAGAGGGAAGGGGAGGGGGAAGGGAGGGGGAGGGTGGTGGG AGGAGGAGGGGAGGGGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGG AGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGAAGGGAAGGGAAGGGA AGGGAAGGGAAGGGAAGGGAAGGGAAGG	SPDYE4	ENSG00000183318.12	transcript	ENST00000689094.1	protein_coding		3978		chr17	TogoVar
SPINK6_chr5_148198042_148220137	148210338	A A	ATATGTAT others(205): Show ATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACAT ATATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATAC ATATATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCAT ACATATATATGTATGTGTTTCTGCATACATATATATGTATGTGTTTCTGC ATACATATATATG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0120 a0002c0002t0001g0120	1	438	0.0023	212	c.82- others(227): Show c.82-3567_82-3566insATGTGTTTCTGCATACATATATATGTATGT GTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATATATGTAT GTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATATATGT ATGTGTTTCTGCATACATATATATGTATGTGTTTCTGCATACATATATAT GTATGTGTTTCTGCATACATATATATGTATGT	SPINK6	ENSG00000178172.7	transcript	ENST00000325630.3	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr5	TogoVar
SPOCD1_chr1_31785422_31821022	31807412	A A	AGGGGAGG others(205): Show AGGGGAGGGGAGGGAAGGGGAGGGAAGGGGGAGGGGAGGGGAGGGGAGGG GAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGACGGGAGG GGAGGGGAGGGGAGGGGAGGGGAGGGGGGGAGGGGAGGGGAGGGGAGGGG GAGGGGAGGGGAGGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGGAGGGG AGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG03139.hp1 HG02922.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0066 a0001c0001t0001g0067	2	260	0.0077	212	c.138 others(231): Show c.1384-5708_1384-5707insCTCCCCCTCCCCTCCCCTCCCCCTCC CCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCTCCCCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCGTCCCCT CCCCTCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCTCCCC TCCCCTCCCCCTTCCCTCCCCTTCCCTCCCCTCCCC	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding	2/15			chr1	TogoVar

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