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
SPTBN1_chr2_54451327_54676446	54522697	G G	GAGAGAGA others(31): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0238 a0001c0001t0010g0238	1	136	0.0074	38	c.-47 others(55): Show c.-47-3672_-47-3671insGAGAGAGAGAGAGAGAGAGAGAGAGAAA GAAAGAAAGA	SPTBN1	ENSG00000115306.17	transcript	ENST00000356805.9	protein_coding	1/35		INFO_REALIGN_3_PRIME	chr2	TogoVar
SPTLC2_chr14_77500997_77621637	77529620	C C	CTTTCTTT others(31): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0043 a0001c0001t0031g0043	1	26	0.0385	38	c.130 others(57): Show c.1304-8040_1304-8039insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGAAA	SPTLC2	ENSG00000100596.8	transcript	ENST00000216484.7	protein_coding	9/11			chr14	TogoVar
SPTSSB_chr3_161339798_161376517	161369352	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0056 a0001c0001t0013g0056	1	243	0.0041	38	c.-12 others(57): Show c.-126+2082_-126+2083insAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAA	SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2			chr3	TogoVar
SRBD1_chr2_45383680_45616267	45571537	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0009 a0009	a0009c0021 a0009c0021	a0009c0021t0001 a0009c0021t0001	a0009c0021t0001g0094 a0009c0021t0001g0094	1	314	0.0032	38	c.130 others(57): Show c.1305+1669_1305+1670insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20			chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31526104	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp2 HG03098.hp1 HG03130.hp2 others(1): Show HG03041.hp2 HG03098.hp1 HG03130.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0031 a0001c0001t0005 a0001c0001t0031	a0001c0001t0005g0131 a0001c0001t0005g0160 a0001c0001t0005g0166 others(1): Show a0001c0001t0005g0131 a0001c0001t0005g0160 a0001c0001t0005g0166 a0001c0001t0031g0344	4	318	0.0126	38	c.91 others(45): Show c.91_*92insATATATATATATATATATATATATATATATATATATAT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	5/5	91		chr2	TogoVar
SRFBP1_chr5_121956975_122033633	121961698	A A	AACGAACA others(31): Show AACGAACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0038 a0002c0003t0002g0038	1	130	0.0077	38	c.-33 others(47): Show c.-335_-334insACGAACACACACACACACACACACACACACACACAC AC	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		276		chr5	TogoVar
SRGAP1_chr12_63839700_64167217	64039628	C C	CGTGTGTG others(31): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG02922.hp2 HG03486.hp2 others(1): Show HG00099.hp2 HG02922.hp2 HG03486.hp2 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0008 a0002c0004 others(1): Show a0001c0002 a0001c0008 a0002c0004 a0003c0005	a0001c0002t0046 a0001c0008t0130 a0002c0004t0151 others(1): Show a0001c0002t0046 a0001c0008t0130 a0002c0004t0151 a0003c0005t0136	a0001c0002t0046g0120 a0001c0008t0130g0020 a0002c0004t0151g0109 others(1): Show a0001c0002t0046g0120 a0001c0008t0130g0020 a0002c0004t0151g0109 a0003c0005t0136g0038	4	18	0.2222	38	c.490 others(55): Show c.490-3130_490-3129insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2_chr1_206198541_206469436	206279581	A A	ATTTTTTT others(31): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0005 a0001c0003t0005	a0001c0003t0005g0164 a0001c0003t0005g0164	1	51	0.0196	38	c.68- others(55): Show c.68-23682_68-23681insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRL_chr16_4184374_4247080	4184819	T T	TCACCTTG others(31): Show TCACCTTGGCTGCTCTTCCATTCCCTTATCCTCGCCACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(136): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp1 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03710.hp2 HG03834.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18943.hp1 NA18944.hp2 NA18955.hp2 NA18968.hp2 NA18973.hp1 NA18980.hp2 NA18984.hp2 NA18986.hp2 NA18993.hp2 NA19002.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp2 NA19060.hp1 NA19084.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(3): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0029 a0001c0001t0035 a0001c0004t0001 a0001c0006t0011 a0001c0007t0030 a0001c0007t0031 a0001c0010t0004 a0001c0011t0032	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(134): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0102 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0150 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0207 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0219 a0001c0001t0001g0224 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0293 a0001c0001t0001g0301 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0313 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0348 a0001c0001t0001g0352 a0001c0001t0004g0047 a0001c0001t0004g0053 a0001c0001t0004g0055 a0001c0001t0004g0067 a0001c0001t0004g0072 a0001c0001t0004g0073 a0001c0001t0004g0086 a0001c0001t0004g0088 a0001c0001t0004g0113 a0001c0001t0004g0143 a0001c0001t0004g0152 a0001c0001t0004g0159 a0001c0001t0004g0176 a0001c0001t0004g0212 a0001c0001t0004g0222 a0001c0001t0004g0228 a0001c0001t0004g0233 a0001c0001t0004g0240 a0001c0001t0004g0244 a0001c0001t0004g0266 a0001c0001t0004g0269 a0001c0001t0004g0320 a0001c0001t0004g0322 a0001c0001t0004g0327 a0001c0001t0006g0008 a0001c0001t0006g0017 a0001c0001t0006g0045 a0001c0001t0006g0054 a0001c0001t0006g0063 a0001c0001t0006g0261 a0001c0001t0006g0272 a0001c0001t0006g0283 a0001c0001t0006g0302 a0001c0001t0006g0328 a0001c0001t0011g0276 a0001c0001t0013g0024 a0001c0001t0013g0350 a0001c0001t0013g0351 a0001c0001t0016g0341 a0001c0001t0016g0342 a0001c0001t0018g0082 a0001c0001t0018g0126 a0001c0001t0021g0315 a0001c0001t0022g0012 a0001c0001t0023g0074 a0001c0001t0029g0076 a0001c0001t0035g0019 a0001c0004t0001g0001 a0001c0004t0001g0317 a0001c0006t0011g0292 a0001c0006t0011g0296 a0001c0007t0030g0007 a0001c0007t0031g0087 a0001c0010t0004g0260 a0001c0011t0032g0291	139	356	0.3904	38	c.73 others(49): Show c.7333_*7334insTGTGGCGAGGATAAGGGAATGGAAGAGCAGCCAA GGTG	SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding		4554		chr16	TogoVar
SRP54_chr14_34977992_35034567	34988578	A A	AAAAAAAA others(31): Show AAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	97	0.0103	38	c.-34 others(55): Show c.-34+5364_-34+5365insAAAAAAAATATATATATATATATATATA TATATATATA	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(31): Show AAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	97	0.0103	38	c.-34 others(55): Show c.-34+5364_-34+5365insAAAAAATATATATATATATATATATATA TATATATATA	SRP54	ENSG00000100883.13	transcript	ENST00000216774.11	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr14	TogoVar
SRP68_chr17_76033785_76077517	76062732	T T	TATATATA others(31): Show TATATATATATATATAAAATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0323 a0001c0003t0001g0323	1	355	0.0028	38	c.562 others(55): Show c.562-1159_562-1158insTTTATATATATATATATATATTTTATAT ATATATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062732	T T	TATATATA others(31): Show TATATATATATATATATAAAATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03130.hp1 HG03471.hp2 HG01884.hp2 HG03130.hp1 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0303 a0001c0003t0001g0305 a0001c0003t0001g0006 a0001c0003t0001g0303 a0001c0003t0001g0305	3	357	0.0084	38	c.562 others(55): Show c.562-1159_562-1158insTTTATATATATATATATATTTTATATAT ATATATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRP68_chr17_76033785_76077517	76062736	T T	TATATATA others(31): Show TATATATATATAAAATATATATATATATATATATATAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	348	0.0029	38	c.562 others(55): Show c.562-1163_562-1162insTTTATATATATATATATATATATATTTT ATATATATAT	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	4/15			chr17	TogoVar
SRPK2_chr7_105111374_105393921	105159464	A A	AACAAAAA others(31): Show AACAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	268	0.0037	38	c.621 others(55): Show c.621+1042_621+1043insGTTTTTTTTTTTTTTTTTTTTTTTGTTT TTTTTTTTGT	SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	7/15			chr7	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	115	0.0087	38	c.-28 others(49): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SRRM1_chr1_24638302_24678281	24640519	C C	CAAAAAAA others(31): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0208 a0001c0002t0001g0208	1	115	0.0087	38	c.-28 others(49): Show c.-2808_-2807insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACA AAAA	SRRM1	ENSG00000133226.19	transcript	ENST00000323848.14	protein_coding		2782		chr1	TogoVar
SSC4D_chr7_76384337_76414697	76405319	A A	ATATATAT others(31): Show ATATATATATATGTATGTATTTTTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0282 a0001c0005t0001g0282	1	309	0.0032	38	c.-66 others(53): Show c.-66-815_-66-814insGAAAGAAAGAAAGAAAAAAATACATACATA TATATATA	SSC4D	ENSG00000146700.9	transcript	ENST00000275560.4	protein_coding	1/10			chr7	TogoVar
SSC5D_chr19_55483436_55524099	55495216	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0123 a0002c0003t0002g0123	1	337	0.0030	38	c.138 others(55): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATAT	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(31): Show ATATATATATATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0242 a0005c0005t0001g0242	1	190	0.0053	38	c.138 others(55): Show c.1387+451_1387+452insATATATATATATATATATATATATATAT ATATATATTT	SSC5D	ENSG00000179954.16	transcript	ENST00000389623.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr19	TogoVar
SSH2_chr17_29620938_29935228	29913347	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	85	0.0118	38	c.63+ others(55): Show c.63+16590_63+16591insATATATATATATATATATATATATTTTT TTTTTTTTTT	SSH2	ENSG00000141298.19	transcript	ENST00000540801.6	protein_coding	1/15			chr17	TogoVar
SSR1_chr6_7276143_7318199	7278337	G G	GTGTGTGT others(31): Show GTGTGTGTGTGTGTGGCAATGGAAGGACAAGGTAACTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0006 a0002c0004t0006	a0002c0004t0006g0328 a0002c0004t0006g0328	1	432	0.0023	38	c.11 others(51): Show c.11526_*11527insGAAGTTACCTTGTCCTTCCATTGCCACACACA CACACA	SSR1	ENSG00000124783.14	transcript	ENST00000244763.9	protein_coding		2805		chr6	TogoVar
SSTR5_chr16_1067747_1086454	1076148	T T	TCTCCCCC others(31): Show TCTCCCCCCACCTTTTCTCTCTCCCTCCCCCACCTCCCC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0007 a0001c0005t0006g0007	1	336	0.0030	38	c.-27 others(55): Show c.-27-2689_-27-2688insCCCACCTTTTCTCTCTCCCTCCCCCACC TCCCCCTCCC	SSTR5	ENSG00000162009.10	transcript	ENST00000689027.1	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar
SSU72_chr1_1536673_1579863	1540128	G G	GGGGGAGC others(31): Show GGGGGAGCGCAGGCCGGGGAGGGGAGCGCAGGCCGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 HG03130.hp1 HG02809.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0155 a0001c0001t0005g0156	2	374	0.0053	38	c.19 others(49): Show c.1900_*1937dupTCCCCGGCCTGCGCTCCCCTCCCCGGCCTGCGCT CCCC	SSU72	ENSG00000160075.12	transcript	ENST00000291386.4	protein_coding		1544		chr1	TogoVar
ST3GAL1_chr8_133449848_133576887	133541120	T T	TATATATA others(31): Show TATATATAAACATATATATATATATATATATATAGAGAG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0136 a0001c0002t0010g0136	1	45	0.0222	38	c.-42 others(57): Show c.-429+4653_-429+4654insCTCTCTATATATATATATATATATAT ATGTTTATATAT	ST3GAL1	ENSG00000008513.17	transcript	ENST00000522652.6	protein_coding	2/9			chr8	TogoVar
ST3GAL2_chr16_70370977_70444100	70410240	C C	CTTTTTTT others(31): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0045 a0001c0001t0002g0045	1	92	0.0109	38	c.-10 others(61): Show c.-1003-10708_-1003-10707insAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAA	ST3GAL2	ENSG00000157350.13	transcript	ENST00000342907.3	protein_coding	1/6			chr16	TogoVar
ST3GAL3_chr1_43702536_43936159	43917517	T T	TATATATT others(31): Show TATATATTATATTATATAATATATTATGTATTATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	272	0.0037	38	c.745 others(55): Show c.745-2861_745-2824dupTGTATTATATATAATATATTATATTATA TAATATATTA	ST3GAL3	ENSG00000126091.21	transcript	ENST00000347631.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76183851	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0085 a0002c0002t0001g0085	1	25	0.0400	38	c.18+ others(57): Show c.18+108989_18+108990insATATATATATATATATATATATATAT ATATATATATAT	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
ST6GALNAC3_chr1_76069746_76639603	76525805	A A	ACGTATAT others(31): Show ACGTATATATATATATATACATATATATATATATATACG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02970.hp2 HG02717.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0010 a0001c0003t0010 a0001c0001t0010 a0001c0003t0010	a0001c0001t0010g0062 a0001c0003t0010g0086 a0001c0001t0010g0062 a0001c0003t0010g0086	2	98	0.0204	38	c.624 others(59): Show c.624-101647_624-101646insCGTATATATATATATATACATATA TATATATATATACG	ST6GALNAC3	ENSG00000184005.12	transcript	ENST00000328299.4	protein_coding	3/4			chr1	TogoVar
ST6GALNAC5_chr1_76862480_77072546	76862792	C C	CACATAAT others(31): Show CACATAATTCTCACAACAACTAACACTCAAGCCGTGCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	200	0.0050	38	c.-48 others(49): Show c.-4884_-4883insACATAATTCTCACAACAACTAACACTCAAGCCGT GCTT	ST6GALNAC5	ENSG00000117069.15	transcript	ENST00000477717.6	protein_coding		4687		chr1	TogoVar
ST8SIA5_chr18_46662821_46762053	46710411	C C	CTTTCTTT others(31): Show CTTTCTTTCTTTCTGTCTTTTTCTTTCTCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02723.hp2 HG03453.hp1 others(1): Show HG02004.hp2 HG02723.hp2 HG03453.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0016 a0001c0001t0095 others(1): Show a0001c0001t0003 a0001c0001t0016 a0001c0001t0095 a0001c0001t0127	a0001c0001t0003g0193 a0001c0001t0016g0035 a0001c0001t0095g0209 others(1): Show a0001c0001t0003g0193 a0001c0001t0016g0035 a0001c0001t0095g0209 a0001c0001t0127g0305	4	301	0.0133	38	c.132 others(55): Show c.132-5748_132-5747insAAGAAAGAGAGAGAAAGAAAAAGACAGA AAGAAAGAAA	ST8SIA5	ENSG00000101638.14	transcript	ENST00000315087.12	protein_coding	1/6			chr18	TogoVar
ST8SIA6_chr10_17310421_17459595	17374748	A A	AAATAAAT others(31): Show AAATAAATAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0014 a0002c0002t0001g0014	1	289	0.0035	38	c.291 others(57): Show c.291-15149_291-15148insATATATATATATATATATATATATAT ATTTTATTTATT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17374764	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	194	0.0052	38	c.291 others(57): Show c.291-15165_291-15164insGTGTGTATATATATATATATATATAT ATATATATATAT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7			chr10	TogoVar
ST8SIA6_chr10_17310421_17459595	17374764	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02055.hp1 HG02165.hp1 others(6): Show HG02015.hp2 HG02055.hp1 HG02165.hp1 HG03239.hp1 HG03834.hp2 HG03927.hp2 NA18954.hp2 NA18989.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0034 a0001c0001t0037	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0002g0242 others(6): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0004g0123 a0001c0001t0004g0251 a0001c0001t0005g0243 a0001c0001t0034g0096 a0001c0001t0037g0162	9	202	0.0446	38	c.291 others(57): Show c.291-15165_291-15164insGTGTATATATATATATATATATATAT ATATATATATAT	ST8SIA6	ENSG00000148488.17	transcript	ENST00000377602.5	protein_coding	3/7			chr10	TogoVar
STAC_chr3_36375504_36553007	36492031	A A	AAAAAAAA others(31): Show AAAAAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0263 a0001c0001t0002g0263	1	84	0.0119	38	c.688 others(55): Show c.688-1119_688-1118insAAAAAAAAAAAATATATATATATATATA TATATATATA	STAC	ENSG00000144681.11	transcript	ENST00000273183.8	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(31): Show TATATATATATATACACACACATACATATACATACACAC	intron_variant intron_variant	MODIFIER	NA18986.hp2 NA19010.hp2 NA18986.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0035 a0001c0001t0001g0045	2	116	0.0172	38	c.902 others(55): Show c.902+1989_902+1990insGTGTGTATGTATATGTATGTGTGTGTAT ATATATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAG1_chr3_136331236_136757378	136498233	T T	TATATATA others(31): Show TATATATATATATATATATATATATATATACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0174 a0002c0003t0002g0174	1	115	0.0087	38	c.902 others(55): Show c.902+1989_902+1990insGTGTGTGTGTATATATATATATATATAT ATATATATAT	STAG1	ENSG00000118007.13	transcript	ENST00000383202.7	protein_coding	9/33			chr3	TogoVar
STAM2_chr2_152111801_152180763	152159094	C C	CATATATA others(31): Show CATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 NA18952.hp1 others(4): Show HG01243.hp1 HG02630.hp1 NA18952.hp1 NA18963.hp1 NA18975.hp1 NA18992.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0019 a0001c0001t0021 a0001c0001t0024	a0001c0001t0003g0179 a0001c0001t0003g0224 a0001c0001t0004g0195 others(4): Show a0001c0001t0003g0179 a0001c0001t0003g0224 a0001c0001t0004g0195 a0001c0001t0017g0196 a0001c0001t0019g0194 a0001c0001t0021g0168 a0001c0001t0024g0225	7	201	0.0348	38	c.41- others(53): Show c.41-8866_41-8865insATATATATATATATATATATATATATATAT ATATATAT	STAM2	ENSG00000115145.10	transcript	ENST00000263904.5	protein_coding	1/13			chr2	TogoVar
STARD7_chr2_96179859_96213827	96197072	A A	AAACTAAA others(31): Show AAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 NA19003.hp1 NA19057.hp1 HG01934.hp1 NA19003.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0204 a0001c0001t0003g0214 a0001c0001t0010g0040 a0001c0001t0003g0204 a0001c0001t0003g0214 a0001c0001t0010g0040	3	346	0.0087	38	c.291 others(55): Show c.291-1524_291-1523insGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STARD7_chr2_96179859_96213827	96197077	A A	AAACTAAA others(31): Show AAACTAAACTAAACTAAACTAAACTAAACTAAACTAAAC	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18953.hp2 NA18969.hp2 others(1): Show NA18944.hp1 NA18953.hp2 NA18969.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0034 a0001c0001t0003g0166 a0001c0001t0003g0188 a0001c0001t0003g0034 a0001c0001t0003g0166 a0001c0001t0003g0188	4	354	0.0113	38	c.291 others(55): Show c.291-1529_291-1528insGTTTAGTTTAGTTTAGTTTAGTTTAGTT TAGTTTAGTT	STARD7	ENSG00000084090.14	transcript	ENST00000337288.10	protein_coding	1/7			chr2	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	31	0.0323	38	c.210 others(55): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56345524	A A	AATATATA others(31): Show AATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	31	0.0323	38	c.210 others(55): Show c.2102+621_2102+622insATATATATATATATATATATATATATAT ATATATATAT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	22/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAAAA others(31): Show AAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	62	0.0161	38	c.782 others(53): Show c.782+449_782+450insATATATATATATATATATATATATATATTT TTTTTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAAAATA others(31): Show AAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	62	0.0161	38	c.782 others(53): Show c.782+449_782+450insATATATATATATATATATATATATATATAT ATATTTTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAT2_chr12_56336597_56365107	56354016	A A	AAAATATA others(31): Show AAAATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0150 a0001c0001t0013g0150	1	62	0.0161	38	c.782 others(53): Show c.782+449_782+450insATATATATATATATATATATATATATATAT ATATATTT	STAT2	ENSG00000170581.15	transcript	ENST00000314128.9	protein_coding	8/23			chr12	TogoVar
STAU1_chr20_49108339_49193334	49108477	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	348	0.0029	38	c.64 others(49): Show c.6400_*6401insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding		4861		chr20	TogoVar
STAU1_chr20_49108339_49193334	49108479	T T	TACACACA others(31): Show TACACACACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0047 a0001c0001t0003g0047	1	342	0.0029	38	c.63 others(49): Show c.6398_*6399insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	STAU1	ENSG00000124214.21	transcript	ENST00000371856.7	protein_coding		4859		chr20	TogoVar
STC2_chr5_173309723_173333414	173318266	A A	AAGAGAGA others(31): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	154	0.0065	38	c.507 others(51): Show c.507-18_507-17insCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCT	STC2	ENSG00000113739.11	transcript	ENST00000265087.9	protein_coding	3/3			chr5	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(31): Show ATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0279 a0002c0002t0002g0279	1	192	0.0052	38	c.762 others(57): Show c.762+35592_762+35593insAAAAAAAAAAAAAATATATATATATA TATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(31): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02630.hp1 HG02615.hp1 HG02630.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0253 a0002c0002t0002g0319 a0002c0002t0002g0253 a0002c0002t0002g0319	2	193	0.0104	38	c.762 others(57): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAATATATATATA TATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar

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