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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SPTSSB_chr3_161339798_161376517	161369352	C C	CTTTCTTT others(11): Show CTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02155.hp2 HG03471.hp2 others(2): Show HG02109.hp2 HG02155.hp2 HG03471.hp2 NA18950.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0017 a0001c0001t0001 a0001c0001t0005 a0001c0001t0017	a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0005g0081 others(2): Show a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0005g0081 a0001c0001t0005g0082 a0001c0001t0017g0064	5	412	0.0121	18	c.-12 others(37): Show c.-126+2082_-126+2083insAAGAAAGAAAGAAAGAAA		SPTSSB	ENSG00000196542.9	transcript	ENST00000620149.2	protein_coding	1/2						chr3	TogoVar
SPTY2D1_chr11_18601403_18639342	18610667	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02015.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0258 a0001c0001t0026g0258	1	444	0.0023	18	c.196 others(35): Show c.1965-731_1965-714dupTTTTTTTTTTTTTTTTTT		SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	5/5						chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18610686	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0257 a0001c0001t0003g0257	1	444	0.0023	18	c.196 others(35): Show c.1965-733_1965-732insGTTTTTTTTTTTTTTTTT		SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	5/5						chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18622086	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG02293.hp2 others(2): Show HG01168.hp1 HG01169.hp1 HG02293.hp2 NA18987.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0323 a0001c0001t0001g0349 others(1): Show a0001c0001t0001g0044 a0001c0001t0001g0323 a0001c0001t0001g0349 a0001c0001t0001g0356	5	444	0.0113	18	c.61- others(33): Show c.61-5115_61-5098dupTTTTTTTTTTTTTTTTTT		SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5						chr11	TogoVar
SPTY2D1_chr11_18601403_18639342	18622954	A A	AAACAACA others(11): Show AAACAACAACAACAACAAC	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA19055.hp1 NA19066.hp2 others(1): Show NA18959.hp2 NA19055.hp1 NA19066.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 others(1): Show a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0351	4	444	0.0090	18	c.61- others(33): Show c.61-5983_61-5966dupGTTGTTGTTGTTGTTGTT		SPTY2D1	ENSG00000179119.15	transcript	ENST00000336349.6	protein_coding	1/5						chr11	TogoVar
SQLE_chr8_124993505_125027283	125025833	G G	GACACACA others(11): Show GACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG03710.hp2 HG03942.hp1 others(10): Show HG00609.hp2 HG03710.hp2 HG03942.hp1 HG04204.hp2 NA18943.hp1 NA18946.hp2 NA18949.hp2 NA18974.hp2 NA18985.hp1 NA18987.hp1 NA18991.hp2 NA19080.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0012 a0001c0002t0003 a0001c0002t0012	a0001c0002t0003g0007 a0001c0002t0003g0014 a0001c0002t0003g0032 others(8): Show a0001c0002t0003g0007 a0001c0002t0003g0014 a0001c0002t0003g0032 a0001c0002t0003g0066 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0002t0003g0081 a0001c0002t0003g0082 a0001c0002t0003g0086 a0001c0002t0012g0173	13	378	0.0344	18	c.38 others(29): Show c.3888_*3889insACACACACACACACACAC		SQLE	ENSG00000104549.12	transcript	ENST00000265896.10	protein_coding					3551		chr8	TogoVar
SQOR_chr15_45630029_45696281	45634198	C C	CTATATAT others(11): Show CTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp1 HG01099.hp2 HG02896.hp2 others(3): Show HG01074.hp1 HG01099.hp2 HG02896.hp2 HG03704.hp2 NA19043.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0001c0001t0001 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0062 others(3): Show a0001c0001t0001g0007 a0001c0001t0001g0039 a0001c0001t0001g0062 a0001c0001t0001g0190 a0002c0002t0001g0136 a0002c0004t0001g0248	6	340	0.0177	18	c.-92 others(27): Show c.-928_-927insTATATATATATATATATA		SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding					830		chr15	TogoVar
SQOR_chr15_45630029_45696281	45693215	G G	GCCCGAGA others(11): Show GCCCGAGACTGCTGCTGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0032 a0002c0002t0001g0032	1	340	0.0029	18	c.21 others(29): Show c.2185_*2186insCCCGAGACTGCTGCTGCC		SQOR	ENSG00000137767.14	transcript	ENST00000260324.12	protein_coding					1935		chr15	TogoVar
SQSTM1_chr5_179815905_179843078	179843041	A A	AGAAGAGG others(11): Show AGAAGAGGAAAGAAGGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18986.hp2 NA18980.hp2 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0295 a0001c0001t0001g0274 a0001c0001t0001g0295	2	462	0.0043	18	c.64 others(29): Show c.6448_*6449insGAAGAGGAAAGAAGGAAG		SQSTM1	ENSG00000161011.20	transcript	ENST00000389805.9	protein_coding					4964		chr5	TogoVar
SRBD1_chr2_45383680_45616267	45571517	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp2 HG00733.hp1 others(11): Show HG00423.hp1 HG00544.hp2 HG00733.hp1 HG01981.hp2 HG02015.hp1 HG02132.hp1 HG02148.hp2 NA18950.hp1 NA18957.hp1 NA18983.hp2 NA19007.hp2 NA19057.hp2 NA19062.hp1 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0001 a0001c0001t0001 a0003c0003t0001	a0001c0001t0001g0328 a0003c0003t0001g0112 a0003c0003t0001g0273 others(11): Show a0001c0001t0001g0328 a0003c0003t0001g0112 a0003c0003t0001g0273 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0289 a0003c0003t0001g0290 a0003c0003t0001g0291 a0003c0003t0001g0292 a0003c0003t0001g0294 a0003c0003t0001g0299 a0003c0003t0001g0303	14	358	0.0391	18	c.130 others(37): Show c.1305+1672_1305+1689dupTTTTTTTTTTTTTTTTTT		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20						chr2	TogoVar
SRBD1_chr2_45383680_45616267	45571520	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	358	0.0028	18	c.130 others(37): Show c.1305+1686_1305+1687insGTTTTTTTTTTTTTTTTT		SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	9/20						chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31526104	C C	CATATATA others(11): Show CATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00609.hp2 HG01168.hp2 HG01169.hp2 others(46): Show HG00609.hp2 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG02083.hp2 HG02129.hp2 HG02155.hp2 HG02300.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp1 HG02895.hp2 HG02897.hp2 HG03130.hp1 HG03453.hp2 HG03704.hp2 HG03831.hp2 NA18939.hp1 NA18940.hp2 NA18950.hp1 NA18952.hp1 NA18953.hp1 NA18971.hp1 NA18972.hp2 NA18978.hp1 NA18980.hp1 NA18986.hp1 NA18997.hp2 NA19009.hp2 NA19012.hp2 NA19056.hp2 NA19064.hp1 NA19072.hp1 NA19076.hp1 NA19079.hp2 NA19080.hp2 NA19084.hp2 NA19085.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20752.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0002 a0001c0001t0009	a0001c0001t0002g0014 a0001c0001t0002g0129 a0001c0001t0002g0287 others(45): Show a0001c0001t0002g0014 a0001c0001t0002g0129 a0001c0001t0002g0287 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0300 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0309 a0001c0001t0002g0313 a0001c0001t0002g0314 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0325 a0001c0001t0002g0326 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0002g0348 a0001c0001t0009g0154 a0001c0001t0009g0155	49	386	0.1269	18	c.91 others(25): Show c.91_*92insATATATATATATATATAT		SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	5/5				91		chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31549081	A A	AATTATTA others(11): Show AATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0041 a0002c0002t0001g0041	1	386	0.0026	18	c.282 others(37): Show c.282-15333_282-15316dupAATAATAATAATAATAAT		SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	1/4						chr2	TogoVar
SRD5A3_chr4_55341242_55378100	55346203	G G	GCGCGTCC others(11): Show GCGCGTCCCCGCCCCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00741.hp1 others(11): Show HG00099.hp1 HG00280.hp1 HG00741.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp1 HG01993.hp2 HG02717.hp1 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0032	a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0174 others(6): Show a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0006g0176 a0001c0001t0017g0015 a0001c0001t0017g0016 a0001c0001t0032g0012 a0001c0001t0032g0130	14	384	0.0365	18	c.-13 others(27): Show c.-134_-133insCGCGTCCCCGCCCCGCGC		SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding					38		chr4	TogoVar
SRD5A3_chr4_55341242_55378100	55363884	T T	TGTGTAAC others(11): Show TGTGTAACACAGTTACACA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	384	0.0026	18	c.365 others(33): Show c.365-178_365-177insTACACAGTGTAACACAGT		SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr4	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	352	0.0028	18	c.91+ others(33): Show c.91+7521_91+7522insATATTTTTTTTTTTTTTT		SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18						chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0282 a0001c0001t0001g0282	1	352	0.0028	18	c.91+ others(33): Show c.91+7521_91+7522insATATATTTTTTTTTTTTT		SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18						chr17	TogoVar
SREBF1_chr17_17806334_17841986	17829205	A A	AAAATATA others(11): Show AAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01891.hp2 HG03225.hp2 HG01433.hp2 HG01891.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0291 a0001c0001t0015g0292 a0001c0001t0015g0293 a0001c0001t0015g0291 a0001c0001t0015g0292 a0001c0001t0015g0293	3	352	0.0085	18	c.91+ others(33): Show c.91+7521_91+7522insATATATATATATATATTT		SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding	1/18						chr17	TogoVar
SREBF2_chr22_41828105_41912305	41864223	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0325 a0001c0001t0001g0325	1	336	0.0030	18	c.89- others(33): Show c.89-2586_89-2569dupTATATATATATATATATA		SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr22	TogoVar
SREK1IP1_chr5_64713148_64773691	64727530	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0008 a0001c0003t0008	a0001c0003t0008g0067 a0001c0003t0008g0067	1	342	0.0029	18	c.278 others(33): Show c.278+559_278+576dupATATATATATATATATAT		SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	4/4						chr5	TogoVar
SREK1_chr5_66139300_66188615	66184223	G G	GTTTTTTT others(11): Show GTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	386	0.0026	18	c.53 others(29): Show c.5355_*5356insTTTTTTTTTTTTTTTTTT		SREK1	ENSG00000153914.16	transcript	ENST00000334121.11	protein_coding					609		chr5	TogoVar
SRFBP1_chr5_121956975_122033633	121961746	C C	CACACACA others(11): Show CACACACACACACACACAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG03927.hp1 NA19240.hp2 HG01928.hp2 HG03927.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0168 a0001c0001t0003g0040 a0001c0001t0003g0123 a0001c0001t0001g0168 a0001c0001t0003g0040 a0001c0001t0003g0123	3	228	0.0132	18	c.-28 others(27): Show c.-287_-286insACACACACACACACACAA		SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding					228		chr5	TogoVar
SRGAP1_chr12_63839700_64167217	63919499	C C	CATATATA others(11): Show CATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG03471.hp1 HG02257.hp2 HG02559.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0147 a0001c0002t0058 a0001c0007t0133 a0001c0001t0147 a0001c0002t0058 a0001c0007t0133	a0001c0001t0147g0132 a0001c0002t0058g0040 a0001c0007t0133g0103 a0001c0001t0147g0132 a0001c0002t0058g0040 a0001c0007t0133g0103	3	170	0.0177	18	c.68- others(35): Show c.68-64442_68-64425dupTATATATATATATATATA		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63954677	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0084 a0001c0006t0084	a0001c0006t0084g0018 a0001c0006t0084g0018	1	170	0.0059	18	c.68- others(35): Show c.68-29255_68-29254insAAAAAAAAAAAAAAAAAA		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63954683	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0141 a0001c0001t0141	a0001c0001t0141g0012 a0001c0001t0141g0012	1	170	0.0059	18	c.68- others(35): Show c.68-29255_68-29254insAAAAAAAAGAAAAAAAAA		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64039628	C C	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG03490.hp2 NA18984.hp2 others(2): Show HG01109.hp2 HG03490.hp2 NA18984.hp2 NA19079.hp1 NA19240.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0010 a0001c0002 a0001c0006 a0001c0010	a0001c0002t0003 a0001c0002t0018 a0001c0002t0061 others(2): Show a0001c0002t0003 a0001c0002t0018 a0001c0002t0061 a0001c0006t0105 a0001c0010t0019	a0001c0002t0003g0099 a0001c0002t0018g0068 a0001c0002t0061g0135 others(2): Show a0001c0002t0003g0099 a0001c0002t0018g0068 a0001c0002t0061g0135 a0001c0006t0105g0151 a0001c0010t0019g0168	5	170	0.0294	18	c.490 others(35): Show c.490-3147_490-3130dupGTGTGTGTGTGTGTGTGT		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64044674	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG02056.hp1 HG02132.hp2 others(1): Show HG01517.hp1 HG02056.hp1 HG02132.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0079 a0001c0002t0030 a0001c0002t0057 others(1): Show a0001c0001t0079 a0001c0002t0030 a0001c0002t0057 a0001c0002t0063	a0001c0001t0079g0057 a0001c0002t0030g0059 a0001c0002t0057g0071 others(1): Show a0001c0001t0079g0057 a0001c0002t0030g0059 a0001c0002t0057g0071 a0001c0002t0063g0060	4	170	0.0235	18	c.801 others(35): Show c.801+1107_801+1124dupTTTTTTTTTTTTTTTTTT		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	6/21					INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64144233	T T	TTTGTTGT others(11): Show TTTGTTGTTGTTGTTGTTG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0149 a0001c0001t0149	a0001c0001t0149g0156 a0001c0001t0149g0156	1	170	0.0059	18	c.15 others(29): Show c.1565_*1582dupTTGTTGTTGTTGTTGTTG		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22				1583	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64150934	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp2 HG02683.hp2 HG00558.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0102 a0001c0001t0080 a0001c0001t0102	a0001c0001t0080g0148 a0001c0001t0102g0166 a0001c0001t0080g0148 a0001c0001t0102g0166	2	170	0.0118	18	c.82 others(29): Show c.8271_*8288dupAAAAAAAAAAAAAAAAAA		SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	22/22				8289	INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144883561	G G	GGGGCAAA others(11): Show GGGGCAAAAAGCCGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	1	56	0.0179	18	c.85 others(29): Show c.8598_*8599insGCCCCCGGCTTTTTGCCC		SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding					3726		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121331144	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	274	0.0037	18	c.423 others(35): Show c.423+6516_423+6533dupAAAAAAAAAAAAAAAAAA		SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206279581	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18980.hp1 NA19058.hp2 others(1): Show NA18959.hp2 NA18980.hp1 NA19058.hp2 NA19081.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0172 a0001c0003t0006g0173 a0001c0003t0006g0177 others(1): Show a0001c0003t0006g0172 a0001c0003t0006g0173 a0001c0003t0006g0177 a0001c0003t0006g0178	4	182	0.0220	18	c.68- others(35): Show c.68-23699_68-23682dupTTTTTTTTTTTTTTTTTT		SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	2/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206304744	G G	GTTCTTTT others(11): Show GTTCTTTTTATTATGATTA	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0128 a0001c0001t0001g0128	1	182	0.0055	18	c.260 others(35): Show c.260+1274_260+1291dupCTTTTTATTATGATTATT		SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	3/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206359798	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0140 a0001c0003t0004g0140	1	182	0.0055	18	c.423 others(37): Show c.423+16799_423+16816dupTTTTTTTTTTTTTTTTTT		SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2_chr1_206198541_206469436	206427557	T T	TTGAGAGG others(11): Show TTGAGAGGTAGAGGCTAAG	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0142 a0001c0002t0013g0142	1	182	0.0055	18	c.149 others(37): Show c.1495-2605_1495-2604insTGAGAGGTAGAGGCTAAG		SRGAP2	ENSG00000266028.8	transcript	ENST00000573034.8	protein_coding	13/22						chr1	TogoVar
SRGAP3_chr3_8975591_9254646	9123730	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03486.hp1 NA21309.hp2 HG02895.hp1 HG03486.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0005 a0001c0002t0004 a0001c0001t0002 a0001c0001t0005 a0001c0002t0004	a0001c0001t0002g0067 a0001c0001t0005g0206 a0001c0002t0004g0092 a0001c0001t0002g0067 a0001c0001t0005g0206 a0001c0002t0004g0092	3	228	0.0132	18	c.260 others(33): Show c.260+994_260+995insCACACACACACACACACA		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	2/21						chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9123732	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03139.hp1 NA19067.hp1 others(1): Show HG02895.hp2 HG03139.hp1 NA19067.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0049 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0049 a0001c0003t0007	a0001c0001t0002g0187 a0001c0001t0003g0113 a0001c0001t0049g0084 others(1): Show a0001c0001t0002g0187 a0001c0001t0003g0113 a0001c0001t0049g0084 a0001c0003t0007g0227	4	228	0.0175	18	c.260 others(33): Show c.260+975_260+992dupCACACACACACACACACA		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	2/21						chr3	TogoVar
SRGAP3_chr3_8975591_9254646	9141551	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0069 a0001c0001t0020g0069	1	228	0.0044	18	c.68- others(35): Show c.68-16635_68-16634insACACACACACACACACAC		SRGAP3	ENSG00000196220.17	transcript	ENST00000383836.8	protein_coding	1/21						chr3	TogoVar
SRL_chr16_4184374_4247080	4213404	C C	CTTTTTCT others(11): Show CTTTTTCTTTTTCTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02280.hp1 HG03453.hp1 HG00733.hp2 HG02280.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0108 a0001c0001t0008g0268 a0001c0001t0008g0278 a0001c0001t0001g0108 a0001c0001t0008g0268 a0001c0001t0008g0278	3	358	0.0084	18	c.62- others(33): Show c.62-8771_62-8770insAAAAAAGAAAAAGAAAAA		SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5						chr16	TogoVar
SRL_chr16_4184374_4247080	4220278	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02055.hp1 HG02257.hp2 others(8): Show HG01192.hp2 HG02055.hp1 HG02257.hp2 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02698.hp1 HG02735.hp1 HG03195.hp1 HG03579.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0007 a0001c0001 a0001c0002 a0001c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0011 a0001c0002t0005 a0001c0002t0041 a0001c0007t0030	a0001c0001t0001g0010 a0001c0001t0001g0085 a0001c0001t0001g0217 others(8): Show a0001c0001t0001g0010 a0001c0001t0001g0085 a0001c0001t0001g0217 a0001c0001t0001g0310 a0001c0001t0004g0047 a0001c0001t0004g0269 a0001c0001t0011g0042 a0001c0001t0011g0276 a0001c0002t0005g0345 a0001c0002t0041g0210 a0001c0007t0030g0007	11	358	0.0307	18	c.62- others(35): Show c.62-15662_62-15645dupGTGTGTGTGTGTGTGTGT		SRL	ENSG00000185739.13	transcript	ENST00000399609.7	protein_coding	1/5						chr16	TogoVar
SRP14_chr15_40030690_40044181	40037279	G G	GAAAAAAA others(11): Show GAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00735.hp1 HG00735.hp2 others(29): Show HG00621.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01168.hp2 HG01175.hp2 HG01361.hp1 HG02027.hp2 HG02148.hp1 HG02165.hp2 HG02647.hp2 HG03669.hp2 HG04115.hp1 NA18939.hp1 NA18951.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18963.hp2 NA18967.hp1 NA18975.hp1 NA18981.hp1 NA18983.hp1 NA18994.hp2 NA19000.hp1 NA19065.hp2 NA19066.hp2 NA19068.hp1 NA19083.hp2 NA19091.hp1 NA20805.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0007c0009 a0001c0002 a0007c0009	a0001c0002t0001 a0001c0002t0005 a0007c0009t0001 a0001c0002t0001 a0001c0002t0005 a0007c0009t0001	a0001c0002t0001g0005 a0001c0002t0001g0048 a0001c0002t0005g0033 others(1): Show a0001c0002t0001g0005 a0001c0002t0001g0048 a0001c0002t0005g0033 a0007c0009t0001g0049	32	426	0.0751	18	c.211 others(33): Show c.211-262_211-261insTTTTTTTTTTTTTTTTTT		SRP14	ENSG00000140319.11	transcript	ENST00000267884.11	protein_coding	3/4						chr15	TogoVar
SRP14_chr15_40030690_40044181	40037279	G G	GGAAAAAA others(11): Show GGAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02602.hp2 NA19005.hp2 HG00597.hp1 HG02602.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0057 a0001c0001t0001g0030 a0001c0001t0001g0057	3	426	0.0070	18	c.211 others(33): Show c.211-262_211-261insTTTTTTTTTTTTTTTTTC		SRP14	ENSG00000140319.11	transcript	ENST00000267884.11	protein_coding	3/4						chr15	TogoVar
SRP19_chr5_112856287_112874788	112860990	G G	GCACAGTC others(11): Show GCACAGTCTTCGCCCCTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	408	0.0025	18	c.-38 others(27): Show c.-387_-386insCACAGTCTTCGCCCCTTA		SRP19	ENSG00000153037.15	transcript	ENST00000505459.6	protein_coding					296		chr5	TogoVar
SRP68_chr17_76033785_76077517	76070850	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03490.hp2 HG02258.hp1 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0151 a0001c0001t0002g0041 a0001c0001t0002g0151	2	365	0.0055	18	c.185 others(33): Show c.185-424_185-407dupTGTGTGTGTGTGTGTGTG		SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	1/15						chr17	TogoVar
SRP68_chr17_76033785_76077517	76072414	A A	ACCGCCGC others(11): Show ACCGCCGCCGCCACTGCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02486.hp1 HG02486.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0021 a0006c0011t0001g0021	1	365	0.0027	18	c.77_ others(23): Show c.77_78insCGGCAGTGGCGGCGGCGG	p.Gly others(29): Show p.Gly26_Ser27insGlySerGlyGlyGlyGly	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	1/16	103/2831	77/1884	26/627			chr17	TogoVar
SRP68_chr17_76033785_76077517	76072432	A A	ACCGCCGC others(11): Show ACCGCCGCCGCCACTGCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18998.hp2 NA18998.hp2	a0006 a0006	a0006c0014 a0006c0014	a0006c0014t0002 a0006c0014t0002	a0006c0014t0002g0026 a0006c0014t0002g0026	1	365	0.0027	18	c.42_ others(23): Show c.42_59dupCGGCAGTGGCGGCGGCGG	p.Gly others(29): Show p.Gly20_Gly21insGlySerGlyGlyGlyGly	SRP68	ENSG00000167881.15	transcript	ENST00000307877.7	protein_coding	1/16	85/2831	59/1884	20/627			chr17	TogoVar
SRP72_chr4_56462617_56508681	56484026	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA19001.hp2 NA19009.hp1 others(1): Show NA18944.hp1 NA19001.hp2 NA19009.hp1 NA19081.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0181 a0001c0004t0003g0195 a0001c0004t0003g0203 others(1): Show a0001c0004t0003g0181 a0001c0004t0003g0195 a0001c0004t0003g0203 a0001c0004t0003g0206	4	388	0.0103	18	c.958 others(33): Show c.958-702_958-685dupTTTTTTTTTTTTTTTTTT		SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	9/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
SRP72_chr4_56462617_56508681	56484051	T T	TTTTTTTT others(11): Show TTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02258.hp2 HG03195.hp1 HG02257.hp1 HG02258.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0288 a0001c0001t0014g0289 a0001c0001t0014g0290 a0001c0001t0014g0288 a0001c0001t0014g0289 a0001c0001t0014g0290	3	388	0.0077	18	c.958 others(33): Show c.958-685_958-684insTTTTTTTTTTTTTTTTTC		SRP72	ENSG00000174780.17	transcript	ENST00000642900.1	protein_coding	9/18						chr4	TogoVar
SRPK1_chr6_35827966_35926098	35880742	A A	AAAAAAAA others(11): Show AAAAAAAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0227 a0001c0001t0004g0227	1	342	0.0029	18	c.478 others(35): Show c.478+5981_478+5982insCTTTCTTTCTTTTTTTTT		SRPK1	ENSG00000096063.16	transcript	ENST00000373825.7	protein_coding	6/15						chr6	TogoVar
SRPK2_chr7_105111374_105393921	105124640	T T	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02486.hp1 HG00642.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0254 a0001c0001t0001g0204 a0001c0001t0001g0254	2	282	0.0071	18	c.191 others(37): Show c.1915+1590_1915+1607dupTTTTTTTTTTTTTTTTTT		SRPK2	ENSG00000135250.17	transcript	ENST00000393651.8	protein_coding	15/15						chr7	TogoVar

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