Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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	AAAAAAAA others(38): Show AAAAAAAAATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	30	0.0333	45	c.180 others(62): Show c.1807-513_1807-512insAAAAAAATATATATATATATATATATAT ATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAC others(38): Show AAAAAAACATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0335 a0001c0001t0003g0335	1	30	0.0333	45	c.180 others(62): Show c.1807-513_1807-512insAAAAACATATATATATATATATATATAT ATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAAAAAAT others(38): Show AAAAAAATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0219	1	30	0.0333	45	c.180 others(62): Show c.1807-513_1807-512insAAAAATATATATATATATATATATATAT ATATATATATATATATA	SPIRE2	ENSG00000204991.11	transcript	ENST00000378247.8	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
SPIRE2_chr16_89823475_89876319	89869053	A A	AAACAAAC others(38): Show AAACAAACATATATATATGTATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0333 a0001c0001t0003g0333	1	30	0.0333	45	c.180 others(62): Show c.1807-513_1807-512insACAAACATATATATATGTATATATATAT ATATATATATATATATA	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(38): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	35	0.0286	45	c.-12 others(56): Show c.-1200_-1199insAAAAAAAAAAAAAAAAAAAAATATATATATATAT ATATATATATA	SPOCD1	ENSG00000134668.13	transcript	ENST00000360482.7	protein_coding		1099		chr1	TogoVar
SPOCK1_chr5_136970298_137504326	137131989	A A	AAAAAAAA others(38): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0097 a0001c0001t0002g0097	1	63	0.0159	45	c.347 others(62): Show c.347+8590_347+8591insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTT	SPOCK1	ENSG00000152377.15	transcript	ENST00000394945.6	protein_coding	4/10			chr5	TogoVar
SPPL2B_chr19_2323684_2360095	2348789	G G	GTTCTCTC others(38): Show GTTCTCTCCCTCCACACACACTCGCGTTCTCATTCGCTTGATTCCA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01109.hp2 HG01884.hp1 others(20): Show HG01081.hp2 HG01109.hp2 HG01884.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp2 HG02280.hp2 HG02486.hp1 HG02615.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02970.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 NA18906.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0001 a0002c0005t0001 a0002c0005t0003 others(3): Show a0001c0002t0001 a0002c0005t0001 a0002c0005t0003 a0002c0005t0004 a0002c0005t0007 a0002c0005t0024	a0001c0002t0001g0126 a0002c0005t0001g0003 a0002c0005t0001g0147 others(9): Show a0001c0002t0001g0126 a0002c0005t0001g0003 a0002c0005t0001g0147 a0002c0005t0003g0148 a0002c0005t0003g0158 a0002c0005t0004g0003 a0002c0005t0004g0038 a0002c0005t0004g0039 a0002c0005t0004g0040 a0002c0005t0007g0018 a0002c0005t0007g0155 a0002c0005t0024g0146	23	108	0.2130	45	c.135 others(64): Show c.1355-2622_1355-2621insCGTTCTCATTCGCTTGATTCCATTCT CTCCCTCCACACACACTCG	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2348882	T T	TTCTCTCT others(38): Show TTCTCTCTCCACACACACTCACGCTCTCATTCGCTTGATTCCGTTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01361.hp1 HG02109.hp2 others(8): Show HG00733.hp1 HG01361.hp1 HG02109.hp2 HG02258.hp2 HG02647.hp1 HG02698.hp2 HG02717.hp1 HG02895.hp2 HG03453.hp1 HG03486.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0038 a0002c0007 others(1): Show a0001c0001 a0001c0038 a0002c0007 a0002c0008	a0001c0001t0002 a0001c0038t0002 a0002c0007t0003 others(1): Show a0001c0001t0002 a0001c0038t0002 a0002c0007t0003 a0002c0008t0003	a0001c0001t0002g0254 a0001c0038t0002g0255 a0002c0007t0003g0042 others(6): Show a0001c0001t0002g0254 a0001c0038t0002g0255 a0002c0007t0003g0042 a0002c0007t0003g0169 a0002c0008t0003g0041 a0002c0008t0003g0152 a0002c0008t0003g0166 a0002c0008t0003g0167 a0002c0008t0003g0168	11	383	0.0287	45	c.135 others(64): Show c.1355-2544_1355-2543insCACACACACTCACGCTCTCATTCGCT TGATTCCGTTCTCTCTCTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2349270	T T	TCACGTTC others(38): Show TCACGTTCTCATTCATGTGATTCCGTTCTCTCTCCACACACACTCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02896.hp1 HG02897.hp2 others(3): Show HG02559.hp1 HG02896.hp1 HG02897.hp2 HG02976.hp2 HG03453.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0016 a0001c0001t0001 a0001c0001t0006 a0001c0001t0016	a0001c0001t0001g0031 a0001c0001t0001g0120 a0001c0001t0006g0224 others(2): Show a0001c0001t0001g0031 a0001c0001t0001g0120 a0001c0001t0006g0224 a0001c0001t0016g0293 a0001c0001t0016g0294	6	224	0.0268	45	c.135 others(64): Show c.1355-2163_1355-2162insACGTTCTCATTCATGTGATTCCGTTC TCTCTCCACACACACTCAC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPPL2B_chr19_2323684_2360095	2349692	T T	TTCTCTCT others(38): Show TTCTCTCTCTCCACACACACTCGTGTTCTCATTCGCCTGATTCCGT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0084 a0001c0009t0005g0084	1	383	0.0026	45	c.135 others(64): Show c.1355-1778_1355-1734dupTCCACACACACTCGTGTTCTCATTCG CCTGATTCCGTTCTCTCTC	SPPL2B	ENSG00000005206.17	transcript	ENST00000613503.5	protein_coding	13/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
SPTBN1_chr2_54451327_54676446	54522646	A A	AAGAAAGA others(38): Show AAGAAAGAGAGAGAGAGGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 NA18950.hp1 HG01106.hp1 NA18950.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0004 a0001c0003t0003 a0001c0003t0004	a0001c0003t0003g0284 a0001c0003t0004g0024 a0001c0003t0003g0284 a0001c0003t0004g0024	2	337	0.0059	45	c.-47 others(62): Show c.-47-3723_-47-3722insAAGAGAGAGAGAGGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(38): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0304 a0001c0003t0003g0304	1	136	0.0074	45	c.-47 others(62): Show c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAGAGAGAGA AGAGAAAGAAAGAAAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTLC2_chr14_77500997_77621637	77531443	T T	TCTTCTTC others(38): Show TCTTCTTCTTCTTCTTCTTCTCCTCCTCCTTCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG03654.hp1 HG04115.hp1 HG01358.hp2 HG03654.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0046 a0001c0001t0049 a0001c0001t0012 a0001c0001t0046 a0001c0001t0049	a0001c0001t0012g0225 a0001c0001t0046g0233 a0001c0001t0049g0232 a0001c0001t0012g0225 a0001c0001t0046g0233 a0001c0001t0049g0232	3	220	0.0136	45	c.130 others(64): Show c.1304-9863_1304-9862insGAGGAGGAGGAGGAGAAGGAGGAGGA GAAGAAGAAGAAGAAGAAG	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SRGAP1_chr12_63839700_64167217	64150716	T T	TCAATTGA others(38): Show TCAATTGAGGCCAGGAGTTCAACCAGCCTGGACAATGAACTGAACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00558.hp2 HG00639.hp1 others(55): Show HG00558.hp1 HG00558.hp2 HG00639.hp1 HG01069.hp1 HG01109.hp1 HG01109.hp2 HG01243.hp1 HG01257.hp1 HG01261.hp1 HG01261.hp2 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01891.hp2 HG02055.hp1 HG02132.hp1 HG02135.hp2 HG02258.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG03041.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03540.hp2 HG03688.hp2 HG03831.hp1 HG03927.hp2 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18946.hp2 NA18948.hp1 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18963.hp1 NA18967.hp2 NA18971.hp1 NA18979.hp2 NA18984.hp1 NA19057.hp1 NA19060.hp1 NA19079.hp2 NA19084.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20905.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0003c0005 a0004c0012	a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 others(53): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0066 a0001c0001t0067 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0072 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0085 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0118 a0001c0001t0119 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0127 a0001c0001t0148 a0001c0002t0012 a0001c0002t0016 a0001c0002t0022 a0001c0002t0052 a0001c0002t0131 a0001c0003t0089 a0001c0006t0104 a0001c0010t0019 a0003c0005t0134 a0003c0005t0135 a0003c0005t0137 a0003c0005t0138 a0004c0012t0017	a0001c0001t0006g0115 a0001c0001t0006g0154 a0001c0001t0007g0039 others(55): Show a0001c0001t0006g0115 a0001c0001t0006g0154 a0001c0001t0007g0039 a0001c0001t0007g0077 a0001c0001t0011g0149 a0001c0001t0066g0100 a0001c0001t0067g0075 a0001c0001t0068g0163 a0001c0001t0069g0118 a0001c0001t0070g0005 a0001c0001t0072g0117 a0001c0001t0075g0131 a0001c0001t0076g0080 a0001c0001t0077g0128 a0001c0001t0079g0148 a0001c0001t0085g0102 a0001c0001t0093g0052 a0001c0001t0094g0010 a0001c0001t0095g0064 a0001c0001t0096g0022 a0001c0001t0097g0129 a0001c0001t0098g0074 a0001c0001t0100g0123 a0001c0001t0101g0166 a0001c0001t0102g0159 a0001c0001t0103g0051 a0001c0001t0105g0067 a0001c0001t0106g0055 a0001c0001t0107g0003 a0001c0001t0108g0026 a0001c0001t0110g0056 a0001c0001t0111g0138 a0001c0001t0112g0152 a0001c0001t0113g0122 a0001c0001t0114g0142 a0001c0001t0115g0058 a0001c0001t0116g0097 a0001c0001t0117g0078 a0001c0001t0118g0106 a0001c0001t0119g0041 a0001c0001t0121g0069 a0001c0001t0122g0073 a0001c0001t0123g0107 a0001c0001t0127g0031 a0001c0001t0148g0156 a0001c0002t0012g0145 a0001c0002t0016g0089 a0001c0002t0022g0170 a0001c0002t0052g0093 a0001c0002t0131g0140 a0001c0003t0089g0008 a0001c0006t0104g0150 a0001c0010t0019g0168 a0003c0005t0134g0162 a0003c0005t0135g0013 a0003c0005t0137g0047 a0003c0005t0138g0169 a0004c0012t0017g0111	58	168	0.3452	45	c.80 others(56): Show c.8047_*8048insTTGAGGCCAGGAGTTCAACCAGCCTGGACAATGA ACTGAACACAA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22	8048	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRMS_chr20_63533489_63552749	63535837	C C	CCCCCCTC others(38): Show CCCCCCTCACCTGGCCTCCCACCCCGTCCTCACCTGGCCTCCCGCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0004	a0002c0003t0004g0004 a0002c0003t0004g0004	1	354	0.0028	45	c.49 others(56): Show c.4980_*4981insTGCGGGAGGCCAGGTGAGGACGGGGTGGGAGGCC AGGTGAGGGGG	SRMS	ENSG00000125508.4	transcript	ENST00000217188.2	protein_coding		2651		chr20	TogoVar
SSC5D_chr19_55483436_55524099	55495233	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0017 a0001c0010t0001g0017	1	190	0.0053	45	c.138 others(62): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATATATATTTT	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(38): Show ATATATATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19068.hp2 HG02818.hp2 NA19068.hp2	a0002 a0027 a0002 a0027	a0002c0003 a0027c0035 a0002c0003 a0027c0035	a0002c0003t0001 a0027c0035t0001 a0002c0003t0001 a0027c0035t0001	a0002c0003t0001g0219 a0027c0035t0001g0045 a0002c0003t0001g0219 a0027c0035t0001g0045	2	191	0.0105	45	c.138 others(62): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATATTTTTTTT	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(38): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0027 a0027	a0027c0035 a0027c0035	a0027c0035t0001 a0027c0035t0001	a0027c0035t0001g0103 a0027c0035t0001g0103	1	190	0.0053	45	c.138 others(62): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATTTTTTTTTT	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(38): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0002 a0003c0011t0002	a0003c0011t0002g0009 a0003c0011t0002g0009	1	190	0.0053	45	c.138 others(62): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH1_chr12_108773191_108862583	108800632	A A	ACTCCCAC others(38): Show ACTCCCACCAGCCAACTCCTGCGTCTGGAGTCCCGTTAGGATCCCC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0260 a0001c0002t0003g0260	1	157	0.0064	45	c.114 others(62): Show c.1148+103_1148+147dupGGGGATCCTAACGGGACTCCAGACGCAG GAGTTGGCTGGTGGGAG	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	12/14			chr12	TogoVar
SSH1_chr12_108773191_108862583	108835990	T T	TATATTAA others(38): Show TATATTAATATAATCGATTATTATATTAATATAATCGATTATATTA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0219 a0001c0001t0014g0219	1	325	0.0031	45	c.111 others(64): Show c.111-12630_111-12629insTAATATAATCGATTATATTAATATAA TAATCGATTATATTAATAT	SSH1	ENSG00000084112.15	transcript	ENST00000326495.10	protein_coding	2/14			chr12	TogoVar
ST6GALNAC5_chr1_76862480_77072546	77070774	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0015 a0001c0001t0011g0015	1	88	0.0114	45	c.75 others(56): Show c.7568_*7569insTATATATATATATATATATATATATATATATATA TATTTTTTTTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		3229		chr1	TogoVar
STAG1_chr3_136331236_136757378	136376016	C C	CAAAATAA others(38): Show CAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01106.hp2 NA18953.hp1 HG01106.hp2 NA18953.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0081 a0001c0001t0001g0046 a0001c0001t0001g0081	2	9	0.2222	45	c.237 others(64): Show c.2370+1643_2370+1644insATTTTATTTTATTTTATTTTATTTTA TTTTATTTTATTTTATTTT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	23/33			chr3	TogoVar
STARD10_chr11_72749729_72799047	72784944	G G	GGGGCACG others(38): Show GGGGCACGGGGCACCCCTGCATCACACAGCAAGTCAGAAGCCCTAA	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0101 a0001c0001t0002g0101	1	374	0.0027	45	c.-11 others(64): Show c.-113-3695_-113-3651dupTTAGGGCTTCTGACTTGCTGTGTGAT GCAGGGGTGCCCCGTGCCC	STARD10	ENSG00000214530.10	transcript	ENST00000334805.11	protein_coding	1/6			chr11	TogoVar
STARD9_chr15_42570606_42725998	42626324	C C	CTCCTCTT others(38): Show CTCCTCTTCCTCTTCTTCCTCTTCCTCTTCTTCCTCTTCCTCTTCT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0035 a0002c0003t0003g0035	1	143	0.0070	45	c.235 others(62): Show c.235-8526_235-8482dupTTCCTCTTCTTCCTCTTCCTCTTCTTCC TCTTCCTCTTCTTCCTC	STARD9	ENSG00000159433.12	transcript	ENST00000290607.12	protein_coding	3/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAATAT others(38): Show AAAAATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	31	0.0323	45	c.210 others(62): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATATATATTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0328 a0002c0002t0001g0328	1	192	0.0052	45	c.762 others(64): Show c.762+35592_762+35593insAAATATATATATATATATATATATAT ATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0006 a0003c0003t0002g0006	1	192	0.0052	45	c.762 others(64): Show c.762+35592_762+35593insAAAAAAAAATATATATATATATATAT ATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0149 a0001c0001t0002g0149	1	192	0.0052	45	c.762 others(64): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAAAATATAT ATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STIM2_chr4_26855841_27030381	26862539	A A	ATAGGATA others(38): Show ATAGGATATTTACTATTCTAGAGAGAAGAAGGATGTTGGTAAACTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	334	0.0030	45	c.151 others(62): Show c.151+1173_151+1217dupGGATATTTACTATTCTAGAGAGAAGAAG GATGTTGGTAAACTTTA	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK24_chr13_98440185_98582107	98494412	C C	CAAAAAAA others(38): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0028 a0001c0001t0002g0028	1	76	0.0132	45	c.274 others(64): Show c.274-12092_274-12091insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTT	STK24	ENSG00000102572.15	transcript	ENST00000539966.6	protein_coding	2/10			chr13	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0112 a0002c0003t0001g0112	1	131	0.0076	45	c.483 others(62): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STKLD1_chr9_133371366_133411096	133391278	A A	AGGGAGGT others(38): Show AGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA18983.hp1 NA19054.hp2 others(1): Show HG00423.hp1 NA18983.hp1 NA19054.hp2 NA19081.hp1	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0009 a0003c0011t0009	a0003c0011t0009g0042 a0003c0011t0009g0043 a0003c0011t0009g0044 others(1): Show a0003c0011t0009g0042 a0003c0011t0009g0043 a0003c0011t0009g0044 a0003c0011t0009g0045	4	348	0.0115	45	c.583 others(60): Show c.583+490_583+491insGGGGGGTCAGCCCCCCGCCCGGCCAGCCGC CCCGTCCGGGAGGTG	STKLD1	ENSG00000198870.8	transcript	ENST00000371957.4	protein_coding	7/17		INFO_REALIGN_3_PRIME	chr9	TogoVar
STX6_chr1_180967725_181027870	181023028	A A	ATATATCT others(38): Show ATATATCTCTCTCTCTCTCTCCTCTCTCTCCTCTCTCTTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0283 a0001c0002t0002g0283	1	278	0.0036	45	c.-35 others(54): Show c.-356_-355insGAGAGAGAAGAGAGAGGAGAGAGAGGAGAGAGAGAG AGAGATATA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		159		chr1	TogoVar
STX7_chr6_132440867_132518116	132490965	G G	GCAGCACA others(38): Show GCAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCACAGCA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0304 a0001c0001t0006g0304	1	145	0.0069	45	c.85+ others(62): Show c.85+12436_85+12480dupTGCTGTGCTGTGCTGTGCTGTGCTGTGC TGTGCTGTGCTGTGCTG	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	2/9			chr6	TogoVar
STX7_chr6_132440867_132518116	132509448	T T	TTAAACTA others(38): Show TTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	368	0.0027	45	c.-59 others(62): Show c.-59+3558_-59+3559insGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTTTAGTTTA	STX7	ENSG00000079950.14	transcript	ENST00000367941.7	protein_coding	1/9			chr6	TogoVar
STX8_chr17_9245471_9580820	9429902	T T	TAATATAT others(38): Show TAATATATATAATATATTATATATAATATATAATATATATAATATA	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0156 a0001c0004t0001g0156	1	176	0.0057	45	c.542 others(64): Show c.542-51250_542-51249insTATATTATATATATTATATATTATAT ATAATATATTATATATATT	STX8	ENSG00000170310.15	transcript	ENST00000306357.9	protein_coding	6/7			chr17	TogoVar
STXBP3_chr1_108741674_108814523	108771655	T T	TATATATA others(38): Show TATATATATAATATATATGATATATATCTATATATATCATATATAA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03669.hp1 HG04204.hp1 HG03492.hp2 HG03669.hp1 HG04204.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0183 a0001c0001t0001g0184 a0003c0006t0001g0190 a0001c0001t0001g0183 a0001c0001t0001g0184 a0003c0006t0001g0190	3	277	0.0108	45	c.439 others(62): Show c.439-1002_439-1001insAATATATATGATATATATCTATATATAT CATATATAAATATATAT	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr1	TogoVar
SUB1_chr5_32580557_32609079	32606342	G G	GTTTCACC others(38): Show GTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0181 a0001c0001t0003g0181	1	444	0.0023	45	c.52 others(56): Show c.5258_*5259insTTTCACCATGTTAGCCAGGATGGTCTTGATCTCC TGACCTCGTGA	SUB1	ENSG00000113387.12	transcript	ENST00000265073.9	protein_coding		2264		chr5	TogoVar
SUCLG2_chr3_67369719_67659612	67548444	C C	CCGTGCAT others(38): Show CCGTGCATCAGTACAGTTAAACTCTTCAGGCAATTCAGAGTAAGTT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0109 a0001c0001t0002g0109	1	278	0.0036	45	c.227 others(64): Show c.227-19259_227-19258insAACTTACTCTGAATTGCCTGAAGAGT TTAACTGTACTGATGCACG	SUCLG2	ENSG00000172340.15	transcript	ENST00000307227.10	protein_coding	2/10			chr3	TogoVar
SUCO_chr1_172528150_172616833	172571922	A A	AGGGAGGT others(38): Show AGGGAGGTGGGGGTCAGCCCCCGCCAGGCCAGCCGCCCCGTCCGGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00642.hp2 HG00738.hp2 others(5): Show HG00099.hp2 HG00642.hp2 HG00738.hp2 HG01074.hp2 HG01981.hp1 HG02293.hp1 HG03579.hp1 HG03704.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0011 a0001c0003t0005g0031 a0001c0003t0005g0103 others(2): Show a0001c0003t0005g0011 a0001c0003t0005g0031 a0001c0003t0005g0103 a0001c0003t0005g0119 a0001c0003t0005g0124	8	88	0.0909	45	c.104 others(64): Show c.1049+1192_1049+1193insGGGAGGTGGGGGTCAGCCCCCGCCAG GCCAGCCGCCCCGTCCGGG	SUCO	ENSG00000094975.15	transcript	ENST00000263688.4	protein_coding	9/23			chr1	TogoVar
SUN5_chr20_32978775_33009433	33001519	C C	CTTTCTTT others(38): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	49	0.0204	45	c.212 others(60): Show c.212-242_212-241insAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAGAAAGAAA	SUN5	ENSG00000167098.12	transcript	ENST00000356173.8	protein_coding	3/12			chr20	TogoVar
SUPT5H_chr19_39440582_39481670	39449076	C C	CGAGACTC others(38): Show CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG03669.hp2 HG02135.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0189 a0001c0001t0001g0174 a0001c0001t0001g0189	2	276	0.0072	45	c.75+ others(60): Show c.75+3117_75+3118insCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAGACT	SUPT5H	ENSG00000196235.14	transcript	ENST00000432763.7	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr19	TogoVar
SV2B_chr15_91095257_91307565	91158698	T T	TCTCTTCT others(38): Show TCTCTTCTCTTCTCTTCTCTTCCCTTCCCTTCCCTTCCCTTCCCTC	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0080 a0001c0007t0002g0080	1	106	0.0094	45	c.-39 others(66): Show c.-392+58339_-392+58340insTCTCTTCTCTTCTCTTCCCTTCCC TTCCCTTCCCTTCCCTCCTCT	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SV2B_chr15_91095257_91307565	91158723	C C	CCTCTCCT others(38): Show CCTCTCCTCTCCTCTCCTCTCCTATCCTCTCCTCTCCTCTCCTCTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0035 a0001c0009t0035	a0001c0009t0035g0146 a0001c0009t0035g0146	1	53	0.0189	45	c.-39 others(66): Show c.-392+58365_-392+58366insCTCTCCTCTCCTCTCCTATCCTCT CCTCTCCTCTCCTCTTCTCTC	SV2B	ENSG00000185518.12	transcript	ENST00000394232.6	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr15	TogoVar
SVIL_chr10_29452338_29639971	29506748	A A	AGAGGGAG others(38): Show AGAGGGAGGGGACAGAGGCCCTAGAGGGAAAGGACAGAGGCCCTAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0021 a0021	a0021c0118 a0021c0118	a0021c0118t0001 a0021c0118t0001	a0021c0118t0001g0009 a0021c0118t0001g0009	1	288	0.0035	45	c.351 others(64): Show c.3516+5942_3516+5986dupATAGGGCCTCTGTCCTTTCCCTCTAG GGCCTCTGTCCCCTCCCTC	SVIL	ENSG00000197321.16	transcript	ENST00000355867.9	protein_coding	17/37			chr10	TogoVar
SVOP_chr12_108902741_109026068	108903322	G G	GAAGGAAG others(38): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0069 a0001c0001t0069	a0001c0001t0069g0166 a0001c0001t0069g0166	1	276	0.0036	45	c.92 others(56): Show c.9212_*9213insTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTT	SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding		4418		chr12	TogoVar
SYCP2L_chr6_10882052_10979309	10911894	C C	CTTTCTTT others(38): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0094 a0001c0001t0002g0094	1	24	0.0417	45	c.919 others(60): Show c.919-776_919-775insCTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT	SYCP2L	ENSG00000153157.14	transcript	ENST00000283141.11	protein_coding	12/29		INFO_REALIGN_3_PRIME	chr6	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18991.hp2 NA18963.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	2	121	0.0165	45	c.236 others(60): Show c.236-828_236-827insAAAAAAAAAAAAATATATATATATATATAT ATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(38): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01361.hp1 NA18977.hp2 NA19003.hp2 others(1): Show HG01361.hp1 NA18977.hp2 NA19003.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	4	123	0.0325	45	c.236 others(60): Show c.236-828_236-827insAAAAAAAAAAAAAAATATATATATATATAT ATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar

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