Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SPIRE2_chr16_89823475_89876319	89869053	A A	AAACAAAC others(32): Show AAACAAACATATATATATGTATGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02896.hp2 HG02809.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0331 a0001c0001t0003g0332 a0001c0001t0003g0331 a0001c0001t0003g0332	2	31	0.0645	39	c.180 others(56): Show c.1807-513_1807-512insACAAACATATATATATGTATGTATATAT ATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0043 a0001c0001t0002g0043	1	35	0.0286	39	c.-12 others(50): Show c.-1200_-1199insAAAAAAATATATATATATATATATATATATATAT ATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	35	0.0286	39	c.-12 others(50): Show c.-1200_-1199insAAAAAAAAATATATATATATATATATATATATAT ATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCD1_chr1_31785422_31821022	31817120	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	35	0.0286	39	c.-12 others(50): Show c.-1200_-1199insAAAAAAAAAAATATATATATATATATATATATAT ATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02615.hp1 HG00280.hp2 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0030 a0001c0001t0015 a0001c0001t0030	a0001c0001t0015g0099 a0001c0001t0030g0113 a0001c0001t0015g0099 a0001c0001t0030g0113	2	64	0.0313	39	c.347 others(56): Show c.347+8590_347+8591insATATATATATATATATATTTTTTTTTTT TTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0059 a0001c0001t0003g0059	1	63	0.0159	39	c.347 others(56): Show c.347+8590_347+8591insATATATATATATATATATATTTTTTTTT TTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0010 a0001c0002t0019g0010	1	63	0.0159	39	c.347 others(56): Show c.347+8590_347+8591insATATATATATATATATATATATATTTTT TTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0087 a0001c0001t0007g0087	1	63	0.0159	39	c.347 others(56): Show c.347+8590_347+8591insATATATATATATATATATATATATATTT TTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPTBN1_chr2_54451327_54676446	54522642	A A	AAAGAGAG others(32): Show AAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0003 a0002c0006t0003	a0002c0006t0003g0013 a0002c0006t0003g0013	1	361	0.0028	39	c.-47 others(56): Show c.-47-3729_-47-3728insAGAGAGAGAGAGGAGAGAGAGAGAGAGA GGAGAGAGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTSSA_chr14_34427788_34467240	34443146	T T	TGTGTGTG others(32): Show TGTGTGTGTGTGTGTTTTGAGATTGAGTTTTCCTCTAGGG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01175.hp2 HG03831.hp1 others(2): Show HG01168.hp1 HG01175.hp2 HG03831.hp1 HG03834.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0109 others(2): Show a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0005g0109 a0001c0001t0005g0110 a0001c0001t0005g0270	5	342	0.0146	39	c.113 others(56): Show c.113-7843_113-7842insCCCTAGAGGAAAACTCAATCTCAAAACA CACACACACAC	SPTSSA	ENSG00000165389.7	transcript	ENST00000298130.5	protein_coding	1/1			chr14	TogoVar
SREK1IP1_chr5_64713148_64773691	64731521	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0037 a0001c0003t0012g0037	1	276	0.0036	39	c.206 others(56): Show c.206-3343_206-3342insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	3/4			chr5	TogoVar
SRGAP2B_chr1_144882288_145100328	144883678	C C	CGCAAAAG others(32): Show CGCAAAAGCCGCGGCGGACAAAAAGCTGCGGCGGCGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG02071.hp1 HG01346.hp2 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0036 a0001c0001t0013g0025 a0001c0001t0001g0036 a0001c0001t0013g0025	2	53	0.0377	39	c.84 others(50): Show c.8481_*8482insACCCCGCCGCCGCAGCTTTTTGTCCGCCGCGGCT TTTGC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		3609		chr1	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	97	0.0103	39	c.-34 others(56): Show c.-34+5364_-34+5365insAAAAAAAAAAAAAAATATATATATATAT ATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(32): Show AAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0030 a0001c0001t0001g0031	2	98	0.0204	39	c.-34 others(56): Show c.-34+5364_-34+5365insAAAAAAAAATATATATATATATATATAT ATATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRPK2_chr7_105111374_105393921	105159463	A A	AAACAAAA others(32): Show AAACAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	279	0.0036	39	c.621 others(56): Show c.621+1043_621+1044insGTTTTTTTTTTTTTTTTTTTTTTTGTTT TTTTTTTTGTT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15			chr7	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01346.hp2 HG04204.hp1 HG01346.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0189 a0001c0001t0001g0161 a0001c0001t0001g0189	2	116	0.0172	39	c.-28 others(50): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SS18L1_chr20_62138769_62187514	62151799	G G	GCCCCCGT others(32): Show GCCCCCGTTCCCCTCTTTTCCCGCTCCCCATAGCTGGCCT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	309	0.0032	39	c.70- others(54): Show c.70-6843_70-6805dupTAGCTGGCCTCCCCCGTTCCCCTCTTTTCC CGCTCCCCA	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr20	TogoVar
SS18L1_chr20_62138769_62187514	62151860	G G	GATCCCCA others(32): Show GATCCCCAGAGCTGGCCTCCCCCGTTCCCCTCTTTTCCCA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0169 a0001c0001t0003g0169	1	271	0.0037	39	c.70- others(54): Show c.70-6812_70-6811insATCCCCAGAGCTGGCCTCCCCCGTTCCCCT CTTTTCCCA	SS18L1	ENSG00000184402.15	transcript	ENST00000331758.8	protein_coding	1/10			chr20	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG03579.hp2 HG00673.hp2 HG03579.hp2	a0001 a0043 a0001 a0043	a0001c0001 a0043c0066 a0001c0001 a0043c0066	a0001c0001t0001 a0043c0066t0002 a0001c0001t0001 a0043c0066t0002	a0001c0001t0001g0114 a0043c0066t0002g0218 a0001c0001t0001g0114 a0043c0066t0002g0218	2	191	0.0105	39	c.138 others(56): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0060 a0002c0003t0002g0060	1	190	0.0053	39	c.138 others(56): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0117	1	190	0.0053	39	c.138 others(56): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSPN_chr12_26190573_26239777	26201024	T T	TATAAAAT others(32): Show TATAAAATATATATATATATAAATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp2 HG02451.hp1 others(7): Show HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02622.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp1 HG03471.hp2 NA18906.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0008 a0002c0003t0006 a0002c0003t0012 a0001c0001t0008 a0002c0003t0006 a0002c0003t0012	a0001c0001t0008g0093 a0002c0003t0006g0008 a0002c0003t0006g0094 others(4): Show a0001c0001t0008g0093 a0002c0003t0006g0008 a0002c0003t0006g0094 a0002c0003t0006g0098 a0002c0003t0006g0099 a0002c0003t0012g0096 a0002c0003t0012g0106	10	373	0.0268	39	c.279 others(56): Show c.279+5076_279+5077insAAATATATATATATATAAATAATATATA TATATATAATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSPN_chr12_26190573_26239777	26201024	T T	TATATAAA others(32): Show TATATAAAATATATATATATAAATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02055.hp1 HG02145.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0102 a0002c0003t0006g0103 a0002c0003t0006g0102 a0002c0003t0006g0103	2	365	0.0055	39	c.279 others(56): Show c.279+5078_279+5079insAAATATATATATATAAATAATATATATA TATATAATATA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
SSPN_chr12_26190573_26239777	26201026	T T	TAAAATAT others(32): Show TAAAATATATATATATATAAATAATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0049 a0005c0006t0049	a0005c0006t0049g0101 a0005c0006t0049g0101	1	379	0.0026	39	c.279 others(56): Show c.279+5076_279+5077insAAATATATATATATATAAATAATATATA TATATATATAA	SSPN	ENSG00000123096.12	transcript	ENST00000242729.7	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
ST18_chr8_52105838_52414756	52342209	A A	ATATGTAC others(32): Show ATATGTACAATTTTTACTTGTCAATTTAAAAAATACGTTG	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0041 a0001c0001t0010g0041	1	102	0.0098	39	c.-46 others(60): Show c.-465+67080_-465+67118dupCAACGTATTTTTTAAATTGACAAG TAAAAATTGTACATA	ST18	ENSG00000147488.13	transcript	ENST00000689386.1	protein_coding	2/25			chr8	TogoVar
ST3GAL3_chr1_43702536_43936159	43905205	C C	CCCTCCTC others(32): Show CCCTCCTCCTGTTCCTCTTCCCGCCACTCTTCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	268	0.0037	39	c.744 others(56): Show c.744+5499_744+5537dupCGCCACTCTTCCTCCCCCTCCTCCTCCT GTTCCTCTTCC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST3GAL3_chr1_43702536_43936159	43906017	T T	TTCCTCTT others(32): Show TTCCTCTTCCCGCCACTCTTCCTCCCCCTCCCCCTCCTGC	intron_variant intron_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	271	0.0037	39	c.744 others(56): Show c.744+6300_744+6338dupCGCCACTCTTCCTCCCCCTCCCCCTCCT GCTCCTCTTCC	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0183 a0002c0004t0007g0183	1	88	0.0114	39	c.75 others(50): Show c.7568_*7569insTATATATATATATATATATATATATATTTTTTTT TTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
ST8SIA5_chr18_46662821_46762053	46719682	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0255 a0001c0001t0003g0255	1	47	0.0213	39	c.132 others(58): Show c.132-15019_132-15018insGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGAA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA5_chr18_46662821_46762053	46725982	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATCCTGG	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	331	0.0030	39	c.132 others(58): Show c.132-21319_132-21318insCCAGGATATATATATATATATATATA TATATATATATAT	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
STAG1_chr3_136331236_136757378	136396520	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0197 a0001c0001t0003g0197	1	25	0.0400	39	c.227 others(58): Show c.2277+2228_2277+2229insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAA	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	22/33			chr3	TogoVar
STARD9_chr15_42570606_42725998	42626366	T T	TTCTTCCT others(32): Show TTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCCTCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02109.hp1 HG02109.hp2 others(9): Show HG01496.hp1 HG02109.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp1 HG02615.hp1 HG02647.hp2 HG02976.hp1 HG03139.hp2 NA18522.hp1 NA19043.hp1 NA20300.hp2	a0002 a0003 a0009 others(2): Show a0002 a0003 a0009 a0012 a0025	a0002c0002 a0003c0004 a0003c0024 others(3): Show a0002c0002 a0003c0004 a0003c0024 a0009c0010 a0012c0012 a0025c0032	a0002c0002t0004 a0003c0004t0002 a0003c0024t0002 others(3): Show a0002c0002t0004 a0003c0004t0002 a0003c0024t0002 a0009c0010t0002 a0012c0012t0002 a0025c0032t0002	a0002c0002t0004g0167 a0003c0004t0002g0015 a0003c0004t0002g0084 others(9): Show a0002c0002t0004g0167 a0003c0004t0002g0015 a0003c0004t0002g0084 a0003c0004t0002g0159 a0003c0004t0002g0160 a0003c0004t0002g0163 a0003c0004t0002g0164 a0003c0004t0002g0166 a0003c0024t0002g0155 a0009c0010t0002g0007 a0012c0012t0002g0165 a0025c0032t0002g0014	12	204	0.0588	39	c.235 others(56): Show c.235-8482_235-8481insTTCCTCTTCTTCCTCTTCCTCTTCTTCC TCCTCTTCCTC	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAATAT others(32): Show AAAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	62	0.0161	39	c.782 others(54): Show c.782+449_782+450insATATATATATATATATATATATATATATAT ATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0202 a0003c0003t0002g0202	1	192	0.0052	39	c.762 others(58): Show c.762+35592_762+35593insAAATATATATATATATATATATATAT ATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0304 a0002c0002t0002g0304	1	192	0.0052	39	c.762 others(58): Show c.762+35592_762+35593insAAAAAAAAAAAAATATATATATATAT ATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0283 a0002c0002t0002g0283	1	192	0.0052	39	c.762 others(58): Show c.762+35592_762+35593insAAAAAAAAAAAAAAATATATATATAT ATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456973	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG02273.hp1 HG01106.hp2 HG02273.hp1	a0003 a0004 a0003 a0004	a0003c0003 a0004c0004 a0003c0003 a0004c0004	a0003c0003t0001 a0004c0004t0001 a0003c0003t0001 a0004c0004t0001	a0003c0003t0001g0203 a0004c0004t0001g0175 a0003c0003t0001g0203 a0004c0004t0001g0175	2	331	0.0060	39	c.762 others(58): Show c.762+35591_762+35592insTATATATATATATATATATATATATA TATATATATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STIM2_chr4_26855841_27030381	26860795	C C	CGCGGCGG others(32): Show CGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0213 a0001c0001t0011g0213	1	322	0.0031	39	c.-42 others(48): Show c.-424_-423insGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG GCG	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding		45		chr4	TogoVar
STK24_chr13_98440185_98582107	98494412	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0052 a0001c0001t0049g0052	1	76	0.0132	39	c.274 others(58): Show c.274-12092_274-12091insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	2/10			chr13	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	131	0.0076	39	c.483 others(56): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATATATT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0151 a0002c0003t0001g0151	1	131	0.0076	39	c.483 others(56): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATATTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0167 a0002c0003t0001g0167	1	131	0.0076	39	c.483 others(56): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATATTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 HG02523.hp2 HG04199.hp1 others(1): Show HG02135.hp1 HG02523.hp2 HG04199.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0183 a0001c0001t0001g0398 a0001c0001t0001g0400 others(1): Show a0001c0001t0001g0183 a0001c0001t0001g0398 a0001c0001t0001g0400 a0002c0003t0001g0025	4	134	0.0299	39	c.483 others(56): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32B_chr4_5046480_5505989	5317270	A A	AACATATA others(32): Show AACATATATATAACATATATATATAATATATATAAAACAT	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0064 a0002c0002t0002g0064	1	160	0.0063	39	c.261 others(58): Show c.261-13949_261-13948insCATATATATAACATATATATATAATA TATATAAAACATA	STK32B	ENSG00000152953.13	transcript	ENST00000282908.10	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK38L_chr12_27239286_27330959	27240410	A A	ATATAGTT others(32): Show ATATAGTTATATATATTACATATATGACTATGTATAGTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG01099.hp2 HG02723.hp2 others(2): Show HG00323.hp1 HG01099.hp2 HG02723.hp2 HG02970.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0004g0235 others(2): Show a0001c0001t0001g0242 a0001c0001t0001g0245 a0001c0001t0004g0235 a0001c0001t0004g0243 a0001c0001t0004g0255	5	341	0.0147	39	c.-39 others(50): Show c.-3934_-3933insTATAGTTATATATATTACATATATGACTATGTAT AGTTG	STK38L	ENSG00000211455.8	transcript	ENST00000389032.8	protein_coding		3875		chr12	TogoVar
STK39_chr2_167949022_168252595	168247544	C C	CCCGCCGC others(32): Show CCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCGCCG	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0266 a0001c0001t0035g0266	1	113	0.0088	39	c.-11 others(48): Show c.-110_-109insCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGG CGG	STK39	ENSG00000198648.12	transcript	ENST00000355999.5	protein_coding	1/18	110		chr2	TogoVar
STK40_chr1_36334628_36390924	36345991	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0083 a0001c0005t0005g0083	1	110	0.0091	39	c.740 others(56): Show c.740-1728_740-1727insATATATATATATATATATATATATATAT ATATATATATA	STK40	ENSG00000196182.11	transcript	ENST00000373132.4	protein_coding	7/10			chr1	TogoVar
STK4_chr20_44961512_45085021	45011735	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0011 a0002c0002t0011	a0002c0002t0011g0081 a0002c0002t0011g0081	1	250	0.0040	39	c.114 others(60): Show c.1147+10382_1147+10383insATATATATATATATATATATATAT ATATATATATATATA	STK4	ENSG00000101109.13	transcript	ENST00000372806.8	protein_coding	9/10			chr20	TogoVar
STMN3_chr20_63634712_63658424	63641890	C C	CCCCCGCC others(32): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCTGG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0164 a0001c0001t0059g0164	1	386	0.0026	39	c.483 others(54): Show c.483+217_483+218insCCAGGGCGGAGCTCGGAGCGGGCAGGGGCC GGGGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar
STMN3_chr20_63634712_63658424	63642015	C C	CCCCCGCC others(32): Show CCCCCGCCCCGGCCCCTGCCCGCTCCGAGCTCCGCCCCGG	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01934.hp2 NA18612.hp1 HG01069.hp1 HG01934.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0004 a0001c0001t0013	a0001c0001t0004g0136 a0001c0001t0013g0082 a0001c0001t0013g0083 a0001c0001t0004g0136 a0001c0001t0013g0082 a0001c0001t0013g0083	3	43	0.0698	39	c.483 others(52): Show c.483+92_483+93insCCGGGGCGGAGCTCGGAGCGGGCAGGGGCCGG GGCGGGG	STMN3	ENSG00000197457.10	transcript	ENST00000370053.3	protein_coding	4/4			chr20	TogoVar

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