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
SRBD1_chr2_45383680_45616267	45416440	AAGCTTCA others(5): Show AAGCTTCATCAAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00408.hp1 HG00423.hp2 others(36): Show HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01255.hp1 HG01261.hp2 HG01943.hp2 HG02027.hp2 HG02129.hp2 HG02300.hp1 HG02683.hp2 HG03239.hp1 HG03704.hp1 HG04199.hp1 NA18941.hp2 NA18945.hp2 NA18947.hp2 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18971.hp2 NA18986.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19005.hp2 NA19056.hp1 NA19074.hp1 NA19077.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0004 a0002c0002 a0002c0004	a0002c0002t0001 a0002c0004t0001 a0002c0002t0001 a0002c0004t0001	a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 others(36): Show a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0084 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0088 a0002c0002t0001g0089 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0093 a0002c0002t0001g0096 a0002c0002t0001g0097 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0262 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0324 a0002c0002t0001g0334 a0002c0002t0001g0335 a0002c0002t0001g0336 a0002c0002t0001g0337 a0002c0002t0001g0338 a0002c0002t0001g0339 a0002c0002t0001g0346 a0002c0004t0001g0213 a0002c0004t0001g0214 a0002c0004t0001g0215 a0002c0004t0001g0216 a0002c0004t0001g0217 a0002c0004t0001g0228 a0002c0004t0001g0232	39	358	0.1089	-12	c.233 others(31): Show c.2333+1913_2333+1924delATTGATGAAGCT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	18/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45445550	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp1 HG02717.hp2 HG02723.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0054 a0002c0002t0001g0095 a0001c0001t0001g0054 a0002c0002t0001g0095	2	358	0.0056	-12	c.205 others(33): Show c.2050-25668_2050-25657delTTTTTTTTTTTT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45453630	CTTCTAAC others(5): Show CTTCTAACTAGTG	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	358	0.0028	-12	c.204 others(33): Show c.2049+23351_2049+23362delCACTAGTTAGAA	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45465000	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp1 HG01069.hp2 others(23): Show HG00642.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp2 HG02602.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG04204.hp2 HG06807.hp1 NA19043.hp1 NA20300.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 others(2): Show a0001c0001 a0002c0002 a0002c0004 a0002c0008 a0002c0016	a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 others(3): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0005 a0002c0004t0001 a0002c0008t0001 a0002c0016t0001	a0001c0001t0001g0183 a0002c0002t0001g0003 a0002c0002t0001g0005 others(23): Show a0001c0001t0001g0183 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0023 a0002c0002t0001g0239 a0002c0002t0001g0257 a0002c0002t0005g0022 a0002c0004t0001g0251 a0002c0008t0001g0123 a0002c0016t0001g0024	26	358	0.0726	-12	c.204 others(33): Show c.2049+11981_2049+11992delGTGTGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	16/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45509598	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03486.hp2 HG02257.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0249 a0001c0001t0001g0206 a0001c0001t0001g0249	2	358	0.0056	-12	c.187 others(33): Show c.1875-21279_1875-21268delGTGTGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45514669	AGGGTACT others(5): Show AGGGTACTGAAAC	A A	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02922.hp1 HG02965.hp2 others(3): Show HG02145.hp2 HG02922.hp1 HG02965.hp2 HG03130.hp1 HG03516.hp1 NA20129.hp2	a0002 a0010 a0002 a0010	a0002c0004 a0010c0009 a0002c0004 a0010c0009	a0002c0004t0001 a0010c0009t0001 a0002c0004t0001 a0010c0009t0001	a0002c0004t0001g0106 a0002c0004t0001g0109 a0002c0004t0001g0110 others(3): Show a0002c0004t0001g0106 a0002c0004t0001g0109 a0002c0004t0001g0110 a0002c0004t0001g0111 a0002c0004t0001g0115 a0010c0009t0001g0108	6	358	0.0168	-12	c.187 others(33): Show c.1875-26350_1875-26339delGTTTCAGTACCC	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45521286	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03239.hp2 HG02109.hp2 HG03239.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0011c0011 a0002c0002 a0011c0011	a0002c0002t0001 a0011c0011t0001 a0002c0002t0001 a0011c0011t0001	a0002c0002t0001g0003 a0011c0011t0001g0117 a0002c0002t0001g0003 a0011c0011t0001g0117	2	358	0.0056	-12	c.187 others(33): Show c.1874+25434_1874+25445delGTGTGTGTGTGT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding	14/20			chr2	TogoVar
SRBD1_chr2_45383680_45616267	45614972	CAGGCATT others(5): Show CAGGCATTGTAGT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0274 a0003c0003t0001g0274	1	358	0.0028	-12	c.-37 others(23): Show c.-3766_-3755delACTACAATGCCT	SRBD1	ENSG00000068784.13	transcript	ENST00000263736.5	protein_coding		3706		chr2	TogoVar
SRCAP_chr16_30694171_30746409	30735136	ATTTTTTT others(5): Show ATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA18995.hp2 NA19063.hp2 HG01517.hp2 NA18995.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0097 a0001c0001t0002g0066 a0001c0001t0002g0082 a0001c0001t0001g0097 a0001c0001t0002g0066 a0001c0001t0002g0082	3	208	0.0144	-12	c.672 others(29): Show c.6729+538_6729+549delTTTTTTTTTTTT	SRCAP	ENSG00000080603.17	transcript	ENST00000262518.9	protein_coding	31/33		INFO_REALIGN_3_PRIME	chr16	TogoVar
SRC_chr20_37341140_37411050	37365319	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00609.hp1 others(29): Show HG00408.hp2 HG00438.hp1 HG00609.hp1 HG01243.hp2 HG01884.hp1 HG02015.hp2 HG02027.hp2 HG02056.hp2 HG02129.hp2 HG02523.hp2 HG02647.hp1 HG02723.hp1 HG02735.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp2 HG03516.hp2 HG03540.hp1 NA18948.hp1 NA18962.hp1 NA18977.hp2 NA18979.hp2 NA18982.hp2 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19080.hp1 NA19085.hp1 NA19240.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0040 a0001c0001t0047 a0001c0001t0048 a0001c0007t0041	a0001c0001t0001g0007 a0001c0001t0001g0135 a0001c0001t0002g0024 others(28): Show a0001c0001t0001g0007 a0001c0001t0001g0135 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0145 a0001c0001t0002g0167 a0001c0001t0002g0178 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0216 a0001c0001t0002g0218 a0001c0001t0004g0005 a0001c0001t0004g0157 a0001c0001t0004g0187 a0001c0001t0004g0204 a0001c0001t0004g0217 a0001c0001t0004g0220 a0001c0001t0004g0261 a0001c0001t0004g0268 a0001c0001t0012g0205 a0001c0001t0012g0206 a0001c0001t0012g0207 a0001c0001t0014g0138 a0001c0001t0014g0139 a0001c0001t0018g0266 a0001c0001t0040g0012 a0001c0001t0047g0238 a0001c0001t0048g0168 a0001c0007t0041g0011	32	282	0.1135	-12	c.-17 others(27): Show c.-173+83_-173+94delACACACACACAC	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRC_chr20_37341140_37411050	37368532	TTTTTTTT others(5): Show TTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	282	0.0036	-12	c.-17 others(31): Show c.-173+3267_-173+3278delGTTTTTTTTTTT	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr20	TogoVar
SRC_chr20_37341140_37411050	37410583	TACTGCAG others(5): Show TACTGCAGCCTCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG02148.hp2 HG01243.hp1 HG02109.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0171 a0001c0001t0001g0177 a0001c0001t0001g0097 a0001c0001t0001g0171 a0001c0001t0001g0177	3	282	0.0106	-12	c.72 others(23): Show c.7205_*7216delACTGCAGCCTCA	SRC	ENSG00000197122.13	transcript	ENST00000373578.7	protein_coding		4534		chr20	TogoVar
SRD5A2_chr2_31517480_31585938	31549081	AATTATTA others(5): Show AATTATTATTATT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02897.hp1 HG02922.hp1 HG01891.hp2 HG02897.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030	a0001c0001t0028g0158 a0001c0001t0029g0156 a0001c0001t0030g0157 a0001c0001t0028g0158 a0001c0001t0029g0156 a0001c0001t0030g0157	3	386	0.0078	-12	c.282 others(31): Show c.282-15327_282-15316delAATAATAATAAT	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	1/4			chr2	TogoVar
SRD5A2_chr2_31517480_31585938	31554924	CGTGTGTG others(5): Show CGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0105 a0002c0002t0001g0105	1	386	0.0026	-12	c.282 others(31): Show c.282-21170_282-21159delACACACACACAC	SRD5A2	ENSG00000277893.2	transcript	ENST00000622030.2	protein_coding	1/4			chr2	TogoVar
SRD5A3_chr4_55341242_55378100	55354815	TGTGCGCG others(5): Show TGTGCGCGCGTGC	T T	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG03017.hp2 HG01981.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0194 a0001c0001t0002g0195	2	384	0.0052	-12	c.222 others(29): Show c.222-4520_222-4509delGCGTGCGCGCGT	SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SRD5A3_chr4_55341242_55378100	55370431	TCACACAC others(5): Show TCACACACACACA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(87): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00597.hp2 HG00642.hp1 HG00673.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01261.hp2 HG01361.hp2 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01943.hp1 HG01981.hp2 HG02055.hp1 HG02135.hp1 HG02145.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02723.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp2 HG03130.hp2 HG03195.hp2 HG03471.hp1 HG03491.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp1 NA18944.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18955.hp1 NA18959.hp1 NA18964.hp1 NA18966.hp1 NA18969.hp1 NA18974.hp2 NA18978.hp2 NA18988.hp2 NA18990.hp2 NA18994.hp1 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19009.hp2 NA19054.hp1 NA19057.hp1 NA19062.hp1 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp1 NA19080.hp2 NA19084.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0018 others(7): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0018 a0001c0001t0023 a0001c0001t0033 a0001c0001t0034 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 others(76): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0031 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0066 a0001c0001t0002g0090 a0001c0001t0002g0150 a0001c0001t0002g0164 a0001c0001t0002g0185 a0001c0001t0002g0189 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0197 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0226 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0256 a0001c0001t0002g0258 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0007g0004 a0001c0001t0007g0036 a0001c0001t0007g0045 a0001c0001t0007g0183 a0001c0001t0007g0209 a0001c0001t0007g0210 a0001c0001t0007g0232 a0001c0001t0007g0251 a0001c0001t0007g0263 a0001c0001t0007g0267 a0001c0001t0018g0004 a0001c0001t0018g0228 a0001c0001t0018g0229 a0001c0001t0018g0235 a0001c0001t0018g0255 a0001c0001t0023g0184 a0001c0001t0023g0186 a0001c0001t0023g0188 a0001c0001t0023g0190 a0001c0001t0033g0037 a0001c0001t0033g0237 a0001c0001t0034g0004 a0001c0001t0068g0165 a0001c0001t0069g0037 a0001c0001t0070g0227 a0001c0001t0071g0004	90	384	0.2344	-12	c.37 others(21): Show c.371_*382delCACACACACACA	SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding	5/5	371	INFO_REALIGN_3_PRIME	chr4	TogoVar
SRD5A3_chr4_55341242_55378100	55370464	CACACACA others(5): Show CACACACACAAAG	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01255.hp1 HG01884.hp1 HG02615.hp2 others(2): Show HG01255.hp1 HG01884.hp1 HG02615.hp2 HG02630.hp1 NA19240.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0019 a0002c0002t0035 a0002c0002t0019 a0002c0002t0035	a0002c0002t0019g0034 a0002c0002t0019g0212 a0002c0002t0019g0214 others(1): Show a0002c0002t0019g0034 a0002c0002t0019g0212 a0002c0002t0019g0214 a0002c0002t0035g0213	5	384	0.0130	-12	c.37 others(21): Show c.374_*385delACACACACAAAG	SRD5A3	ENSG00000128039.13	transcript	ENST00000264228.9	protein_coding	5/5	374		chr4	TogoVar
SREBF1_chr17_17806334_17841986	17809773	CTGAAGGC others(5): Show CTGAAGGCGAAGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0124 a0001c0001t0017g0124	1	352	0.0028	-12	c.28 others(23): Show c.2837_*2848delCCTTCGCCTTCA	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding		1560		chr17	TogoVar
SREBF1_chr17_17806334_17841986	17811084	AGTCCGTC others(5): Show AGTCCGTCCGCCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0033 a0002c0003t0033	a0002c0003t0033g0296 a0002c0003t0033g0296	1	352	0.0028	-12	c.15 others(23): Show c.1526_*1537delAGGCGGACGGAC	SREBF1	ENSG00000072310.18	transcript	ENST00000261646.11	protein_coding		249		chr17	TogoVar
SREBF2_chr22_41828105_41912305	41844029	TACATACA others(5): Show TACATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0053 a0002c0002t0003g0053	1	336	0.0030	-12	c.88+ others(29): Show c.88+10675_88+10686delTACACACACACA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREBF2_chr22_41828105_41912305	41864223	CATATATA others(5): Show CATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00735.hp1 HG02698.hp2 others(1): Show HG00140.hp1 HG00735.hp1 HG02698.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0230 a0001c0001t0001g0234 others(1): Show a0001c0001t0001g0219 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0236	4	336	0.0119	-12	c.89- others(27): Show c.89-2580_89-2569delTATATATATATA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREBF2_chr22_41828105_41912305	41864251	TATATATA others(5): Show TATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01517.hp1 HG01943.hp2 others(1): Show HG01258.hp1 HG01517.hp1 HG01943.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0001 a0001c0001t0012	a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 others(1): Show a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0012g0213	4	336	0.0119	-12	c.89- others(27): Show c.89-2578_89-2567delTATATATATACA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREBF2_chr22_41828105_41912305	41864255	TATATATA others(5): Show TATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp2 HG02486.hp1 HG02486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0006 a0002c0005t0007 a0002c0005t0006 a0002c0005t0007	a0002c0005t0006g0249 a0002c0005t0007g0012 a0002c0005t0006g0249 a0002c0005t0007g0012	2	336	0.0060	-12	c.89- others(27): Show c.89-2574_89-2563delTATATACACACA	SREBF2	ENSG00000198911.13	transcript	ENST00000361204.9	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr22	TogoVar
SREK1IP1_chr5_64713148_64773691	64749059	CATAATAA others(5): Show CATAATAATAATA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01978.hp2 HG02055.hp2 others(11): Show HG01884.hp1 HG01978.hp2 HG02055.hp2 HG02145.hp1 HG02486.hp2 HG02615.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03471.hp2 NA18906.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0003 a0001c0001t0018 a0001c0003t0010 others(3): Show a0001c0001t0003 a0001c0001t0018 a0001c0003t0010 a0001c0003t0013 a0001c0003t0014 a0001c0007t0003	a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0003g0275 others(11): Show a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0003g0275 a0001c0001t0003g0280 a0001c0001t0018g0129 a0001c0003t0010g0053 a0001c0003t0010g0058 a0001c0003t0010g0059 a0001c0003t0010g0060 a0001c0003t0013g0054 a0001c0003t0013g0056 a0001c0003t0013g0057 a0001c0003t0014g0061 a0001c0007t0003g0242	14	342	0.0409	-12	c.61+ others(27): Show c.61+5244_61+5255delTATTATTATTAT	SREK1IP1	ENSG00000153006.16	transcript	ENST00000513458.9	protein_coding	2/4			chr5	TogoVar
SREK1_chr5_66139300_66188615	66151834	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	386	0.0026	-12	c.162 others(29): Show c.162-1611_162-1600delTTTTTTTTTTTT	SREK1	ENSG00000153914.16	transcript	ENST00000334121.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
SRFBP1_chr5_121956975_122033633	121961698	AACACACA others(5): Show AACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02486.hp2 HG03471.hp1 HG01243.hp2 HG02486.hp2 HG03471.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0005 a0002c0005t0005	a0002c0005t0005g0022 a0002c0005t0005g0023 a0002c0005t0005g0025 a0002c0005t0005g0022 a0002c0005t0005g0023 a0002c0005t0005g0025	3	228	0.0132	-12	c.-33 others(21): Show c.-334_-323delACACACACACAC	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding		276		chr5	TogoVar
SRFBP1_chr5_121956975_122033633	122001546	CTTTTTTT others(5): Show CTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0049 a0006c0009t0001g0049	1	228	0.0044	-12	c.270 others(29): Show c.270+6891_270+6902delTTTTTTTTTTTT	SRFBP1	ENSG00000151304.6	transcript	ENST00000339397.5	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SRF_chr6_43166269_43186506	43169986	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03704.hp1 HG03669.hp2 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0002 a0001c0001t0002g0004	2	356	0.0056	-12	c.-16 others(23): Show c.-1670_-1659delTTTTTTTTTTTT	SRF	ENSG00000112658.8	transcript	ENST00000265354.6	protein_coding		1282		chr6	TogoVar
SRGAP1_chr12_63839700_64167217	63855473	GTTTTTTT others(5): Show GTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0067 a0001c0001t0067	a0001c0001t0067g0100 a0001c0001t0067g0100	1	170	0.0059	-12	c.67+ others(29): Show c.67+10611_67+10622delTTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63856252	CTAAATAA others(5): Show CTAAATAAATAAA	C C	intron_variant intron_variant	MODIFIER	HG01978.hp1 HG02056.hp1 HG02132.hp2 others(12): Show HG01978.hp1 HG02056.hp1 HG02132.hp2 HG02135.hp1 HG02698.hp2 HG03654.hp2 HG03831.hp2 HG03834.hp2 NA18952.hp2 NA18963.hp1 NA18967.hp2 NA18979.hp2 NA18984.hp2 NA18988.hp1 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0007 a0001c0001t0075 a0001c0001t0077 others(12): Show a0001c0001t0007 a0001c0001t0075 a0001c0001t0077 a0001c0001t0106 a0001c0001t0118 a0001c0001t0122 a0001c0001t0123 a0001c0002t0003 a0001c0002t0018 a0001c0002t0023 a0001c0002t0030 a0001c0002t0056 a0001c0002t0057 a0001c0002t0063 a0002c0004t0154	a0001c0001t0007g0077 a0001c0001t0075g0072 a0001c0001t0077g0080 others(12): Show a0001c0001t0007g0077 a0001c0001t0075g0072 a0001c0001t0077g0080 a0001c0001t0106g0067 a0001c0001t0118g0078 a0001c0001t0122g0069 a0001c0001t0123g0073 a0001c0002t0003g0070 a0001c0002t0018g0068 a0001c0002t0023g0062 a0001c0002t0030g0059 a0001c0002t0056g0061 a0001c0002t0057g0071 a0001c0002t0063g0060 a0002c0004t0154g0076	15	170	0.0882	-12	c.67+ others(29): Show c.67+11402_67+11413delTAAATAAATAAA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63913191	CTTCTTTT others(5): Show CTTCTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0028 a0001c0001t0109g0028	1	170	0.0059	-12	c.67+ others(29): Show c.67+68311_67+68322delCTTTTTTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63949000	CCATATAT others(5): Show CCATATATATATT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG00639.hp2 others(56): Show HG00408.hp1 HG00558.hp1 HG00639.hp2 HG01069.hp1 HG01069.hp2 HG01109.hp1 HG01109.hp2 HG01257.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01517.hp1 HG01978.hp2 HG02055.hp1 HG02056.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02258.hp2 HG02300.hp1 HG02486.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG04184.hp1 HG06807.hp1 HG06807.hp2 NA18946.hp2 NA18948.hp2 NA18951.hp1 NA18951.hp2 NA18967.hp2 NA18971.hp2 NA18988.hp1 NA19057.hp2 NA19060.hp2 NA20129.hp1 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0013 a0002c0004 a0003c0005 a0004c0012	a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 others(53): Show a0001c0001t0006 a0001c0001t0007 a0001c0001t0021 a0001c0001t0068 a0001c0001t0074 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0001t0086 a0001c0001t0094 a0001c0001t0097 a0001c0001t0102 a0001c0001t0107 a0001c0001t0110 a0001c0001t0112 a0001c0001t0113 a0001c0001t0116 a0001c0001t0117 a0001c0001t0119 a0001c0001t0120 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0140 a0001c0001t0146 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0014 a0001c0002t0016 a0001c0002t0024 a0001c0002t0027 a0001c0002t0028 a0001c0002t0038 a0001c0002t0039 a0001c0002t0040 a0001c0002t0046 a0001c0002t0050 a0001c0002t0053 a0001c0002t0054 a0001c0002t0055 a0001c0002t0056 a0001c0002t0062 a0001c0002t0064 a0001c0002t0065 a0001c0002t0132 a0001c0003t0001 a0001c0003t0100 a0001c0006t0085 a0001c0006t0105 a0001c0013t0044 a0002c0004t0091 a0002c0004t0153 a0003c0005t0139 a0004c0012t0017	a0001c0001t0006g0112 a0001c0001t0006g0154 a0001c0001t0007g0039 others(56): Show a0001c0001t0006g0112 a0001c0001t0006g0154 a0001c0001t0007g0039 a0001c0001t0021g0150 a0001c0001t0068g0075 a0001c0001t0074g0134 a0001c0001t0077g0080 a0001c0001t0078g0128 a0001c0001t0079g0057 a0001c0001t0081g0164 a0001c0001t0086g0102 a0001c0001t0094g0052 a0001c0001t0097g0022 a0001c0001t0102g0166 a0001c0001t0107g0054 a0001c0001t0110g0030 a0001c0001t0112g0138 a0001c0001t0113g0152 a0001c0001t0116g0058 a0001c0001t0117g0097 a0001c0001t0119g0106 a0001c0001t0120g0044 a0001c0001t0126g0050 a0001c0001t0127g0042 a0001c0001t0128g0031 a0001c0001t0140g0092 a0001c0001t0146g0013 a0001c0002t0002g0008 a0001c0002t0003g0124 a0001c0002t0004g0056 a0001c0002t0004g0111 a0001c0002t0014g0129 a0001c0002t0016g0089 a0001c0002t0024g0043 a0001c0002t0027g0046 a0001c0002t0028g0026 a0001c0002t0038g0091 a0001c0002t0039g0027 a0001c0002t0040g0019 a0001c0002t0046g0048 a0001c0002t0050g0088 a0001c0002t0053g0093 a0001c0002t0054g0084 a0001c0002t0055g0045 a0001c0002t0056g0061 a0001c0002t0062g0041 a0001c0002t0064g0049 a0001c0002t0065g0126 a0001c0002t0132g0140 a0001c0003t0001g0035 a0001c0003t0001g0036 a0001c0003t0100g0014 a0001c0006t0085g0015 a0001c0006t0105g0151 a0001c0013t0044g0155 a0002c0004t0091g0032 a0002c0004t0153g0114 a0003c0005t0139g0170 a0004c0012t0017g0113	59	170	0.3471	-12	c.68- others(29): Show c.68-34939_68-34928delATATTCATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63949396	TTTATTAT others(5): Show TTTATTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02818.hp2 others(3): Show HG02258.hp1 HG02559.hp2 HG02818.hp2 HG03579.hp2 NA18951.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0103 a0001c0001t0147 a0001c0001t0148 others(3): Show a0001c0001t0103 a0001c0001t0147 a0001c0001t0148 a0001c0002t0005 a0001c0002t0043 a0001c0002t0064	a0001c0001t0103g0159 a0001c0001t0147g0132 a0001c0001t0148g0116 others(3): Show a0001c0001t0103g0159 a0001c0001t0147g0132 a0001c0001t0148g0116 a0001c0002t0005g0158 a0001c0002t0043g0094 a0001c0002t0064g0049	6	170	0.0353	-12	c.68- others(29): Show c.68-34515_68-34504delATTATTATTATT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63982210	CAAAACAA others(5): Show CAAAACAAAAACA	C C	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0048 a0001c0002t0046g0048	1	170	0.0059	-12	c.68- others(27): Show c.68-1720_68-1709delCAAAAACAAAAA	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63983797	AATATATA others(5): Show AATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01069.hp2 HG01433.hp1 others(18): Show HG01069.hp1 HG01069.hp2 HG01433.hp1 HG01433.hp2 HG01978.hp1 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02559.hp1 HG02717.hp1 HG02886.hp1 HG03017.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03927.hp1 NA19057.hp1 NA19057.hp2 NA19060.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0002c0004 a0004c0012	a0001c0001t0021 a0001c0001t0071 a0001c0001t0092 others(18): Show a0001c0001t0021 a0001c0001t0071 a0001c0001t0092 a0001c0001t0098 a0001c0001t0116 a0001c0001t0134 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0008 a0001c0002t0014 a0001c0002t0028 a0001c0002t0033 a0001c0002t0043 a0001c0002t0046 a0001c0002t0051 a0001c0002t0053 a0001c0003t0001 a0001c0011t0015 a0002c0004t0091 a0004c0012t0017	a0001c0001t0021g0150 a0001c0001t0071g0006 a0001c0001t0092g0105 others(18): Show a0001c0001t0021g0150 a0001c0001t0071g0006 a0001c0001t0092g0105 a0001c0001t0098g0130 a0001c0001t0116g0058 a0001c0001t0134g0119 a0001c0002t0002g0008 a0001c0002t0003g0070 a0001c0002t0004g0056 a0001c0002t0008g0095 a0001c0002t0014g0129 a0001c0002t0028g0026 a0001c0002t0033g0025 a0001c0002t0043g0094 a0001c0002t0046g0048 a0001c0002t0051g0024 a0001c0002t0053g0093 a0001c0003t0001g0065 a0001c0011t0015g0083 a0002c0004t0091g0032 a0004c0012t0017g0113	21	170	0.1235	-12	c.68- others(24): Show c.68-103_68-92delATATATATATAT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	63992660	TACACACA others(5): Show TACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02135.hp1 HG03239.hp1 others(2): Show HG01891.hp1 HG02135.hp1 HG03239.hp1 NA18951.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0087 a0001c0001t0094 a0001c0001t0122 others(2): Show a0001c0001t0087 a0001c0001t0094 a0001c0001t0122 a0001c0002t0023 a0001c0002t0064	a0001c0001t0087g0141 a0001c0001t0094g0052 a0001c0001t0122g0069 others(2): Show a0001c0001t0087g0141 a0001c0001t0094g0052 a0001c0001t0122g0069 a0001c0002t0023g0062 a0001c0002t0064g0049	5	170	0.0294	-12	c.426 others(29): Show c.426+2633_426+2644delACACACACACAC	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64041387	ATTTATTT others(5): Show ATTTATTTATTTT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00558.hp1 HG01243.hp1 others(33): Show HG00408.hp1 HG00558.hp1 HG01243.hp1 HG01257.hp1 HG01261.hp1 HG01433.hp1 HG01433.hp2 HG01891.hp2 HG02056.hp2 HG02572.hp2 HG02698.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp2 HG03453.hp1 HG03490.hp1 HG03492.hp1 HG03579.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04184.hp2 NA18951.hp2 NA18963.hp2 NA18967.hp1 NA18988.hp1 NA19030.hp2 NA19057.hp2 NA19084.hp1 NA19240.hp2 NA20805.hp1 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0010 others(2): Show a0001c0001 a0001c0002 a0001c0010 a0002c0004 a0003c0005	a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 others(32): Show a0001c0001t0006 a0001c0001t0009 a0001c0001t0021 a0001c0001t0069 a0001c0001t0107 a0001c0001t0111 a0001c0001t0116 a0001c0001t0124 a0001c0001t0130 a0001c0002t0005 a0001c0002t0024 a0001c0002t0025 a0001c0002t0028 a0001c0002t0029 a0001c0002t0032 a0001c0002t0033 a0001c0002t0051 a0001c0002t0055 a0001c0002t0056 a0001c0002t0059 a0001c0002t0060 a0001c0002t0062 a0001c0002t0064 a0001c0002t0132 a0001c0010t0019 a0002c0004t0009 a0002c0004t0091 a0002c0004t0151 a0002c0004t0152 a0002c0004t0153 a0002c0004t0154 a0003c0005t0136 a0003c0005t0137 a0003c0005t0138 a0003c0005t0139	a0001c0001t0006g0154 a0001c0001t0009g0143 a0001c0001t0021g0150 others(33): Show a0001c0001t0006g0154 a0001c0001t0009g0143 a0001c0001t0021g0150 a0001c0001t0069g0163 a0001c0001t0107g0054 a0001c0001t0111g0055 a0001c0001t0116g0058 a0001c0001t0124g0107 a0001c0001t0130g0165 a0001c0002t0005g0090 a0001c0002t0005g0158 a0001c0002t0024g0043 a0001c0002t0025g0146 a0001c0002t0028g0026 a0001c0002t0029g0115 a0001c0002t0032g0147 a0001c0002t0033g0025 a0001c0002t0051g0024 a0001c0002t0055g0045 a0001c0002t0056g0061 a0001c0002t0059g0017 a0001c0002t0060g0125 a0001c0002t0062g0041 a0001c0002t0064g0049 a0001c0002t0132g0140 a0001c0010t0019g0168 a0002c0004t0009g0053 a0002c0004t0091g0032 a0002c0004t0151g0122 a0002c0004t0152g0109 a0002c0004t0153g0114 a0002c0004t0154g0076 a0003c0005t0136g0016 a0003c0005t0137g0038 a0003c0005t0138g0047 a0003c0005t0139g0170	36	170	0.2118	-12	c.490 others(29): Show c.490-1399_490-1388delATTTATTTTTTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	4/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64101308	GGTGTGTG others(5): Show GGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0150 a0001c0006t0150	a0001c0006t0150g0167 a0001c0006t0150g0167	1	170	0.0059	-12	c.181 others(31): Show c.1813+3965_1813+3976delTGTGTGTGTGTG	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	15/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP1_chr12_63839700_64167217	64129975	GGTTGTTG others(5): Show GGTTGTTGTTGTT	G G	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0059 a0001c0002t0059	a0001c0002t0059g0017 a0001c0002t0059g0017	1	170	0.0059	-12	c.288 others(31): Show c.2880+1797_2880+1808delGTTGTTGTTGTT	SRGAP1	ENSG00000196935.10	transcript	ENST00000355086.8	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr12	TogoVar
SRGAP2B_chr1_144882288_145100328	144882976	CGGAGGCA others(5): Show CGGAGGCAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0025 a0001c0001t0013g0025	1	56	0.0179	-12	c.91 others(23): Show c.9172_*9183delTTTTTTGCCTCC	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4311		chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	144925723	AAAGAAAA others(5): Show AAAGAAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0026	1	56	0.0179	-12	c.424 others(31): Show c.424-10981_424-10970delCTTTCTTTTCTT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	4/9			chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	144928404	GTTATTTA others(5): Show GTTATTTATTTAT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03490.hp2 HG03492.hp1 HG02615.hp2 HG03490.hp2 HG03492.hp1	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0004 a0007c0007t0018 a0003c0003t0004 a0007c0007t0018	a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001 a0003c0003t0004g0054 a0003c0003t0004g0055 a0007c0007t0018g0001	3	56	0.0536	-12	c.424 others(31): Show c.424-13662_424-13651delATAAATAAATAA	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	4/9			chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	145044650	TAAAAAAA others(5): Show TAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0025 a0001c0001t0013g0025	1	56	0.0179	-12	c.67+ others(29): Show c.67+48173_67+48184delTTTTTTTTTTTT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	145056952	AACACACA others(5): Show AACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0005 a0001c0001t0008g0005	1	56	0.0179	-12	c.67+ others(29): Show c.67+35871_67+35882delGTGTGTGTGTGT	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	145068893	ATGTGTGT others(5): Show ATGTGTGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG02257.hp2 HG03669.hp1 HG01978.hp2 HG02257.hp2 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0008g0005 a0001c0001t0001g0041 a0001c0001t0001g0052 a0001c0001t0008g0005	3	56	0.0536	-12	c.67+ others(29): Show c.67+23930_67+23941delCACACACACACA	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding	2/9			chr1	TogoVar
SRGAP2B_chr1_144882288_145100328	145099709	TCCTCAGC others(5): Show TCCTCAGCTTCCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	56	0.0179	-12	c.-50 others(23): Show c.-5041_-5030delGGGAAGCTGAGG	SRGAP2B	ENSG00000196369.12	transcript	ENST00000641863.3	protein_coding		4382		chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121223351	TTGTGTGT others(5): Show TTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	274	0.0037	-12	c.67+ others(29): Show c.67+35872_67+35883delGTGTGTGTGTGT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121239178	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02602.hp2 HG03654.hp1 others(1): Show HG01109.hp2 HG02602.hp2 HG03654.hp1 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0025 a0002c0002t0028 a0002c0002t0002 a0002c0002t0025 a0002c0002t0028	a0002c0002t0002g0008 a0002c0002t0002g0048 a0002c0002t0025g0007 others(1): Show a0002c0002t0002g0008 a0002c0002t0002g0048 a0002c0002t0025g0007 a0002c0002t0028g0023	4	274	0.0146	-12	c.68- others(29): Show c.68-45586_68-45575delTATATATATATA	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121249546	CTATATAT others(5): Show CTATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0035 a0002c0002t0035	a0002c0002t0035g0016 a0002c0002t0035g0016	1	274	0.0037	-12	c.68- others(29): Show c.68-35233_68-35222delATATATATATAT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SRGAP2C_chr1_121179975_121397874	121249570	ATATATAT others(5): Show ATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01106.hp2 HG01516.hp1 others(11): Show HG00323.hp1 HG01106.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01952.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG04115.hp2 HG04204.hp2 NA18964.hp2 NA18983.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0025 a0002c0002t0033 a0002c0002t0002 a0002c0002t0025 a0002c0002t0033	a0002c0002t0002g0005 a0002c0002t0002g0008 a0002c0002t0002g0009 others(11): Show a0002c0002t0002g0005 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0013 a0002c0002t0002g0015 a0002c0002t0002g0021 a0002c0002t0002g0024 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0047 a0002c0002t0002g0103 a0002c0002t0025g0007 a0002c0002t0033g0020	14	274	0.0511	-12	c.68- others(29): Show c.68-35231_68-35220delATATATATATTT	SRGAP2C	ENSG00000171943.12	transcript	ENST00000367123.8	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

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