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
SNX6_chr14_34556093_34635148	34578937	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0287 a0001c0001t0003g0287	1	40	0.0250	13	c.834 others(30): Show c.834+2611_834+2623dupTTTTTTTTTTTTT	SNX6	ENSG00000129515.20	transcript	ENST00000362031.10	protein_coding	10/13			chr14	TogoVar
SNX7_chr1_98656721_98765500	98763439	A A	ATATATAT others(6): Show ATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	351	0.0028	13	c.33 others(24): Show c.3308_*3309insTATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2940		chr1	TogoVar
SNX7_chr1_98656721_98765500	98763441	A A	ATATATAT others(6): Show ATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	312	0.0032	13	c.33 others(24): Show c.3310_*3311insTATATATATATAT	SNX7	ENSG00000162627.17	transcript	ENST00000306121.8	protein_coding		2942		chr1	TogoVar
SNX8_chr7_2246770_2319441	2260169	C C	CTCAGCTC others(6): Show CTCAGCTCACTGCA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	368	0.0027	13	c.916 others(30): Show c.916-2367_916-2366insTGCAGTGAGCTGA	SNX8	ENSG00000106266.11	transcript	ENST00000222990.8	protein_coding	7/10			chr7	TogoVar
SNX9_chr6_157818246_157950077	157826878	A A	ATATATTA others(6): Show ATATATTATATTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0062 a0001c0001t0011g0062	1	275	0.0036	13	c.12+ others(28): Show c.12+3432_12+3433insTATATTATATTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SNX9_chr6_157818246_157950077	157826907	A A	ATATATTA others(6): Show ATATATTATATTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0062 a0001c0001t0011g0062	1	282	0.0035	13	c.12+ others(28): Show c.12+3461_12+3462insTATATTATATTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17			chr6	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(6): Show GTTTTTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0032 a0002c0002t0002g0032	1	223	0.0045	13	c.12+ others(30): Show c.12+21148_12+21149insGTTTTTTTTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157844587	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0268 a0001c0001t0003g0268	1	223	0.0045	13	c.12+ others(30): Show c.12+21153_12+21154insTTTTTTTTTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157844589	T T	TTTTTTGT others(6): Show TTTTTTGTTTTTTG	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02132.hp2 HG02015.hp2 HG02132.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0026 a0002c0002t0002g0020 a0002c0002t0002g0026	2	300	0.0067	13	c.12+ others(30): Show c.12+21148_12+21149insGTTTTTTGTTTTT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	1/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157873472	C C	CTATATTA others(6): Show CTATATTATAAATA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02109.hp2 HG02451.hp2 others(8): Show HG01934.hp1 HG02109.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02976.hp2 HG03041.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp1 HG06807.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(8): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0005c0006t0001g0090	11	300	0.0367	13	c.174 others(28): Show c.174+309_174+321dupATATATTATAAAT	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157888059	T T	TTGGCCTT others(6): Show TTGGCCTTTCCTCC	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA19005.hp1 NA18987.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0059 a0002c0002t0002g0004 a0002c0002t0002g0059	2	223	0.0090	13	c.301 others(30): Show c.301-8766_301-8765insGCCTTTCCTCCTG	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157888059	T T	TTGGCCTT others(6): Show TTGGCCTTTGCTCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp1 others(74): Show HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG01123.hp2 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp2 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG02015.hp2 HG02056.hp1 HG02083.hp2 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02630.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp1 HG02970.hp1 HG03195.hp2 HG03225.hp2 HG03490.hp1 HG03579.hp1 HG03654.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG06807.hp1 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA18960.hp1 NA18963.hp2 NA18975.hp1 NA18977.hp2 NA18990.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19063.hp1 NA19076.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19088.hp1 NA19089.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(11): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0013 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0009t0006 a0002c0002t0002 a0002c0002t0008 a0002c0002t0012	a0001c0001t0003g0252 a0001c0001t0003g0257 a0001c0001t0003g0268 others(74): Show a0001c0001t0003g0252 a0001c0001t0003g0257 a0001c0001t0003g0268 a0001c0001t0003g0285 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0280 a0001c0001t0004g0281 a0001c0001t0004g0282 a0001c0001t0005g0286 a0001c0001t0005g0287 a0001c0001t0005g0288 a0001c0001t0005g0292 a0001c0001t0005g0293 a0001c0001t0011g0062 a0001c0001t0011g0279 a0001c0001t0013g0296 a0001c0001t0017g0067 a0001c0001t0018g0300 a0001c0001t0019g0068 a0001c0001t0020g0284 a0001c0001t0021g0290 a0001c0009t0006g0061 a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0008g0028 a0002c0002t0008g0034 a0002c0002t0012g0048	77	298	0.2584	13	c.301 others(30): Show c.301-8766_301-8765insGCCTTTGCTCCTG	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SNX9_chr6_157818246_157950077	157913425	C C	CCTCAGCC others(6): Show CCTCAGCCTCCCAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp2 others(88): Show HG00099.hp2 HG00280.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp2 HG00597.hp1 HG00621.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG01074.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01516.hp2 HG01891.hp1 HG01928.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02258.hp1 HG02300.hp2 HG02559.hp2 HG02602.hp1 HG02717.hp2 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03139.hp1 HG03195.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04199.hp1 HG04204.hp2 HG06807.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18960.hp1 NA18963.hp2 NA18975.hp1 NA18977.hp2 NA18987.hp1 NA18990.hp2 NA18998.hp2 NA18999.hp1 NA19001.hp2 NA19002.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19063.hp1 NA19076.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19083.hp1 NA19088.hp1 NA19089.hp1 NA20752.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0001c0009 others(2): Show a0001c0001 a0001c0003 a0001c0009 a0002c0002 a0003c0005	a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 others(8): Show a0001c0001t0011 a0001c0001t0013 a0001c0001t0018 a0001c0003t0003 a0001c0003t0005 a0001c0003t0022 a0001c0009t0006 a0002c0002t0002 a0002c0002t0008 a0002c0002t0012 a0003c0005t0003	a0001c0001t0011g0062 a0001c0001t0011g0279 a0001c0001t0013g0296 others(87): Show a0001c0001t0011g0062 a0001c0001t0011g0279 a0001c0001t0013g0296 a0001c0001t0018g0300 a0001c0003t0003g0002 a0001c0003t0003g0175 a0001c0003t0003g0250 a0001c0003t0003g0251 a0001c0003t0003g0253 a0001c0003t0003g0254 a0001c0003t0003g0255 a0001c0003t0003g0256 a0001c0003t0003g0258 a0001c0003t0003g0259 a0001c0003t0003g0260 a0001c0003t0003g0261 a0001c0003t0003g0262 a0001c0003t0003g0263 a0001c0003t0003g0264 a0001c0003t0003g0265 a0001c0003t0003g0266 a0001c0003t0003g0267 a0001c0003t0003g0269 a0001c0003t0003g0270 a0001c0003t0003g0273 a0001c0003t0003g0275 a0001c0003t0003g0276 a0001c0003t0003g0278 a0001c0003t0003g0283 a0001c0003t0003g0297 a0001c0003t0005g0289 a0001c0003t0022g0291 a0001c0009t0006g0061 a0002c0002t0002g0003 a0002c0002t0002g0004 a0002c0002t0002g0005 a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0008 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0020 a0002c0002t0002g0021 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0024 a0002c0002t0002g0025 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0029 a0002c0002t0002g0030 a0002c0002t0002g0031 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0038 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0042 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0047 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0008g0028 a0002c0002t0008g0034 a0002c0002t0012g0048 a0003c0005t0003g0271 a0003c0005t0003g0274	91	300	0.3033	13	c.949 others(30): Show c.949+3400_949+3401insCTCAGCCTCCCAA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17			chr6	TogoVar
SNX9_chr6_157818246_157950077	157915623	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0066 a0001c0001t0004g0066	1	261	0.0038	13	c.949 others(30): Show c.949+5604_949+5616dupAAAAAAAAAAAAA	SNX9	ENSG00000130340.17	transcript	ENST00000392185.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
SOAT1_chr1_179288797_179363680	179351721	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA19000.hp1 NA18949.hp1 NA19000.hp1	a0002 a0002	a0002c0003 a0002c0007 a0002c0003 a0002c0007	a0002c0003t0002 a0002c0007t0020 a0002c0003t0002 a0002c0007t0020	a0002c0003t0002g0333 a0002c0007t0020g0213 a0002c0003t0002g0333 a0002c0007t0020g0213	2	39	0.0513	13	c.159 others(30): Show c.1596+263_1596+275dupTTTTTTTTTTTTT	SOAT1	ENSG00000057252.13	transcript	ENST00000367619.8	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SOAT2_chr12_53098486_53129535	53107622	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02717.hp1 HG02717.hp2 others(2): Show HG02451.hp2 HG02717.hp1 HG02717.hp2 HG03041.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0005 a0002c0002 a0001c0005 a0002c0002	a0001c0005t0004 a0002c0002t0003 a0001c0005t0004 a0002c0002t0003	a0001c0005t0004g0162 a0002c0002t0003g0244 a0002c0002t0003g0245 others(2): Show a0001c0005t0004g0162 a0002c0002t0003g0244 a0002c0002t0003g0245 a0002c0002t0003g0246 a0002c0002t0003g0247	5	310	0.0161	13	c.443 others(30): Show c.443+1614_443+1626dupTTTTTTTTTTTTT	SOAT2	ENSG00000167780.12	transcript	ENST00000301466.8	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
SOCS3_chr17_78351778_78365077	78362309	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG03834.hp2 HG01099.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0001 a0001c0001t0008g0007 a0001c0001t0001g0001 a0001c0001t0008g0007	2	212	0.0094	13	c.-26 others(24): Show c.-2649_-2648insTTTTTTTTTTTTT	SOCS3	ENSG00000184557.4	transcript	ENST00000330871.3	protein_coding		2233		chr17	TogoVar
SOCS4_chr14_55022236_55054489	55041783	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 NA18970.hp1 HG01884.hp2 NA18970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0134 a0001c0001t0003g0112 a0001c0001t0002g0134 a0001c0001t0003g0112	2	48	0.0417	13	c.-90 others(30): Show c.-90-1155_-90-1143dupTTTTTTTTTTTTT	SOCS4	ENSG00000180008.9	transcript	ENST00000555846.2	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr14	TogoVar
SOCS6_chr18_70284045_70335199	70288787	G G	GCCCGGCG others(6): Show GCCCGGCGCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	356	0.0028	13	c.-43 others(22): Show c.-430_-429insCCCGGCGCCCCTC	SOCS6	ENSG00000170677.6	transcript	ENST00000397942.4	protein_coding		257		chr18	TogoVar
SOGA1_chr20_36772447_36868538	36810717	C C	CTCTCTCT others(6): Show CTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0244 a0001c0014t0001g0244	1	104	0.0096	13	c.245 others(30): Show c.2458-611_2458-610insAGAGAGAGAGAGA	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	6/14			chr20	TogoVar
SOGA1_chr20_36772447_36868538	36810753	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0136 a0001c0009t0001g0136	1	272	0.0037	13	c.245 others(30): Show c.2458-647_2458-646insGAGAGAGAGAGAG	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	6/14			chr20	TogoVar
SOGA1_chr20_36772447_36868538	36841874	G G	GGGTGTGT others(6): Show GGGTGTGTGGGTGT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp2 NA18979.hp1 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0171 a0001c0001t0001g0103 a0001c0001t0001g0171	2	79	0.0253	13	c.688 others(30): Show c.688-2434_688-2433insACACCCACACACC	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SOGA1_chr20_36772447_36868538	36849060	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00621.hp1 others(65): Show HG00323.hp1 HG00544.hp1 HG00621.hp1 HG00621.hp2 HG01109.hp2 HG01175.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01928.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02155.hp1 HG02300.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02738.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03492.hp1 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp2 NA18522.hp1 NA18940.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18993.hp2 NA18995.hp1 NA19003.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19068.hp1 NA19068.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0006 a0009	a0001c0001 a0001c0003 a0001c0007 others(9): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0009 a0001c0014 a0001c0017 a0002c0004 a0003c0005 a0005c0013 a0006c0010 a0009c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(26): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0028 a0001c0001t0033 a0001c0001t0037 a0001c0001t0039 a0001c0001t0040 a0001c0003t0001 a0001c0003t0042 a0001c0007t0001 a0001c0008t0002 a0001c0009t0001 a0001c0014t0001 a0001c0017t0004 a0002c0004t0009 a0002c0004t0012 a0003c0005t0001 a0003c0005t0007 a0005c0013t0018 a0006c0010t0005 a0006c0010t0031 a0009c0019t0045	a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0001g0121 others(65): Show a0001c0001t0001g0099 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0184 a0001c0001t0001g0192 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0228 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0267 a0001c0001t0001g0273 a0001c0001t0002g0102 a0001c0001t0002g0124 a0001c0001t0002g0128 a0001c0001t0002g0153 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0212 a0001c0001t0002g0221 a0001c0001t0003g0234 a0001c0001t0003g0253 a0001c0001t0004g0250 a0001c0001t0005g0011 a0001c0001t0006g0020 a0001c0001t0016g0142 a0001c0001t0017g0243 a0001c0001t0020g0150 a0001c0001t0028g0214 a0001c0001t0033g0185 a0001c0001t0037g0215 a0001c0001t0039g0051 a0001c0001t0040g0156 a0001c0003t0001g0026 a0001c0003t0001g0028 a0001c0003t0001g0105 a0001c0003t0042g0027 a0001c0007t0001g0279 a0001c0008t0002g0187 a0001c0008t0002g0189 a0001c0009t0001g0138 a0001c0009t0001g0139 a0001c0009t0001g0216 a0001c0014t0001g0241 a0001c0014t0001g0244 a0001c0017t0004g0251 a0002c0004t0009g0047 a0002c0004t0012g0093 a0003c0005t0001g0036 a0003c0005t0007g0019 a0003c0005t0007g0023 a0003c0005t0007g0038 a0005c0013t0018g0009 a0006c0010t0005g0235 a0006c0010t0031g0236 a0009c0019t0045g0112	68	70	0.9714	13	c.688 others(30): Show c.688-9632_688-9620dupAAAAAAAAAAAAA	SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14			chr20	TogoVar
SOHLH2_chr13_36163217_36219556	36184459	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp1 HG02647.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0051 a0001c0001t0005g0132 a0001c0001t0005g0051 a0001c0001t0005g0132	2	400	0.0050	13	c.641 others(30): Show c.641+5486_641+5487insAAAAAAAAAAAAA	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding	6/10			chr13	TogoVar
SOHLH2_chr13_36163217_36219556	36184460	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0128 a0001c0004t0004g0128	1	53	0.0189	13	c.641 others(30): Show c.641+5473_641+5485dupAAAAAAAAAAAAA	SOHLH2	ENSG00000120669.16	transcript	ENST00000379881.8	protein_coding	6/10			chr13	TogoVar
SON_chr21_33538038_33582481	33543468	G G	GCTCCAGG others(6): Show GCTCCAGGTCCGTC	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	362	0.0028	13	c.77+ others(26): Show c.77+300_77+301insTCCAGGTCCGTCC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr21	TogoVar
SON_chr21_33538038_33582481	33580462	T T	TGAGATTC others(6): Show TGAGATTCCACCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	1	362	0.0028	13	c.40 others(24): Show c.4038_*4039insGAGATTCCACCTC	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		2982		chr21	TogoVar
SON_chr21_33538038_33582481	33580463	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01258.hp1 HG02976.hp1 NA18522.hp2 others(2): Show HG01258.hp1 HG02976.hp1 NA18522.hp2 NA19084.hp2 NA20300.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0003c0004t0001 a0001c0001t0001 a0003c0004t0001	a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0026 others(2): Show a0001c0001t0001g0006 a0001c0001t0001g0014 a0001c0001t0001g0026 a0001c0001t0001g0059 a0003c0004t0001g0185	5	13	0.3846	13	c.40 others(24): Show c.4039_*4040insAAAAAAAAAAAAA	SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding		2983		chr21	TogoVar
SORBS1_chr10_95306773_95566371	95347437	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03579.hp1 HG03209.hp1 HG03579.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0007 a0001c0002 a0002c0007	a0001c0002t0013 a0002c0007t0013 a0001c0002t0013 a0002c0007t0013	a0001c0002t0013g0121 a0002c0007t0013g0093 a0001c0002t0013g0121 a0002c0007t0013g0093	2	297	0.0067	13	c.238 others(30): Show c.2383-986_2383-985insAAAAAAAAAAAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	25/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95347441	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0037 a0001c0002t0037	a0001c0002t0037g0219 a0001c0002t0037g0219	1	80	0.0125	13	c.238 others(30): Show c.2383-990_2383-989insAAAAAAAAAAAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	25/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95365218	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp2 NA19066.hp2 HG02055.hp2 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0012 a0001c0003 a0001c0012	a0001c0003t0002 a0001c0012t0022 a0001c0003t0002 a0001c0012t0022	a0001c0003t0002g0060 a0001c0012t0022g0296 a0001c0003t0002g0060 a0001c0012t0022g0296	2	289	0.0069	13	c.195 others(32): Show c.1955+2431_1955+2432insCACACACACACAC	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	22/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95464319	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp1 HG02145.hp1 others(24): Show HG00639.hp1 HG02109.hp1 HG02145.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp2 NA19043.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0011 a0002c0006 a0002c0007 a0002c0033 a0002c0034 a0003c0010	a0001c0001t0033 a0001c0002t0001 a0001c0002t0019 others(10): Show a0001c0001t0033 a0001c0002t0001 a0001c0002t0019 a0001c0003t0001 a0001c0003t0002 a0001c0003t0019 a0001c0011t0011 a0002c0006t0002 a0002c0007t0002 a0002c0007t0013 a0002c0033t0001 a0002c0034t0002 a0003c0010t0001	a0001c0001t0033g0282 a0001c0002t0001g0099 a0001c0002t0001g0149 others(24): Show a0001c0001t0033g0282 a0001c0002t0001g0099 a0001c0002t0001g0149 a0001c0002t0019g0142 a0001c0003t0001g0015 a0001c0003t0001g0016 a0001c0003t0001g0017 a0001c0003t0001g0068 a0001c0003t0002g0031 a0001c0003t0019g0020 a0001c0011t0011g0029 a0001c0011t0011g0134 a0002c0006t0002g0030 a0002c0006t0002g0040 a0002c0006t0002g0047 a0002c0006t0002g0101 a0002c0006t0002g0106 a0002c0006t0002g0279 a0002c0007t0002g0069 a0002c0007t0013g0093 a0002c0007t0013g0143 a0002c0033t0001g0285 a0002c0034t0002g0032 a0003c0010t0001g0163 a0003c0010t0001g0164 a0003c0010t0001g0165 a0003c0010t0001g0275	27	298	0.0906	13	c.-45 others(32): Show c.-45-23152_-45-23140dupCTTTTTTTTTTTT	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	2/32			chr10	TogoVar
SORBS1_chr10_95306773_95566371	95467886	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03453.hp2 NA18985.hp1 others(1): Show HG01884.hp2 HG03453.hp2 NA18985.hp1 NA19004.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0006 a0003c0005 a0001c0004 a0002c0006 a0003c0005	a0001c0004t0003 a0002c0006t0001 a0003c0005t0003 a0001c0004t0003 a0002c0006t0001 a0003c0005t0003	a0001c0004t0003g0055 a0002c0006t0001g0277 a0003c0005t0003g0004 others(1): Show a0001c0004t0003g0055 a0002c0006t0001g0277 a0003c0005t0003g0004 a0003c0005t0003g0005	4	110	0.0364	13	c.-46 others(32): Show c.-46+23136_-46+23148dupAAAAAAAAAAAAA	SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	2/32			chr10	TogoVar
SORBS2_chr4_185580523_185817194	185588587	T T	TCTCCTTC others(6): Show TCTCCTTCCTCCTC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00323.hp1 others(92): Show HG00099.hp1 HG00099.hp2 HG00323.hp1 HG00438.hp1 HG00558.hp2 HG00609.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01928.hp1 HG01934.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02040.hp2 HG02071.hp2 HG02129.hp2 HG02148.hp1 HG02165.hp1 HG02258.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG03017.hp2 HG03041.hp1 HG03453.hp1 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03516.hp1 HG03669.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 NA18747.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18950.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18972.hp2 NA18977.hp2 NA18982.hp1 NA18983.hp2 NA18991.hp2 NA18995.hp1 NA19000.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19077.hp2 NA19088.hp1 NA19091.hp2 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0011	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0006 a0001c0010 a0001c0011 a0001c0022 a0001c0025 a0002c0012 a0002c0014 a0004c0016 a0005c0019 a0011c0030	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0020 a0001c0001t0023 a0001c0001t0025 a0001c0001t0039 a0001c0001t0048 a0001c0001t0050 a0001c0001t0051 a0001c0001t0058 a0001c0001t0064 a0001c0001t0068 a0001c0002t0001 a0001c0002t0031 a0001c0003t0001 a0001c0006t0020 a0001c0010t0038 a0001c0011t0001 a0001c0022t0007 a0001c0025t0063 a0002c0012t0056 a0002c0014t0031 a0004c0016t0021 a0005c0019t0032 a0011c0030t0049	a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0041 others(92): Show a0001c0001t0001g0023 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0175 a0001c0001t0001g0195 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0216 a0001c0001t0001g0229 a0001c0001t0001g0240 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0265 a0001c0001t0002g0156 a0001c0001t0002g0303 a0001c0001t0003g0057 a0001c0001t0003g0118 a0001c0001t0003g0161 a0001c0001t0004g0105 a0001c0001t0004g0113 a0001c0001t0004g0162 a0001c0001t0004g0170 a0001c0001t0004g0203 a0001c0001t0004g0293 a0001c0001t0005g0071 a0001c0001t0006g0128 a0001c0001t0007g0068 a0001c0001t0007g0272 a0001c0001t0008g0097 a0001c0001t0008g0111 a0001c0001t0008g0166 a0001c0001t0008g0178 a0001c0001t0008g0194 a0001c0001t0008g0201 a0001c0001t0008g0207 a0001c0001t0008g0209 a0001c0001t0008g0277 a0001c0001t0011g0069 a0001c0001t0011g0171 a0001c0001t0011g0202 a0001c0001t0011g0297 a0001c0001t0011g0307 a0001c0001t0013g0200 a0001c0001t0020g0046 a0001c0001t0020g0223 a0001c0001t0023g0063 a0001c0001t0025g0180 a0001c0001t0039g0009 a0001c0001t0048g0122 a0001c0001t0050g0259 a0001c0001t0051g0164 a0001c0001t0058g0270 a0001c0001t0064g0125 a0001c0001t0068g0234 a0001c0002t0001g0051 a0001c0002t0001g0190 a0001c0002t0031g0033 a0001c0003t0001g0273 a0001c0003t0001g0278 a0001c0006t0020g0094 a0001c0010t0038g0008 a0001c0011t0001g0059 a0001c0011t0001g0149 a0001c0022t0007g0193 a0001c0025t0063g0213 a0002c0012t0056g0044 a0002c0014t0031g0077 a0004c0016t0021g0224 a0004c0016t0021g0226 a0005c0019t0032g0244 a0005c0019t0032g0245 a0011c0030t0049g0121	95	242	0.3926	13	c.384 others(30): Show c.3842-900_3842-899insGAGGAGGAAGGAG	SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	26/26			chr4	TogoVar
SORBS3_chr8_22546927_22580788	22575933	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18986.hp2 NA18999.hp2 NA18986.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0295 a0001c0001t0001g0126 a0001c0001t0001g0295	2	424	0.0047	13	c.12 others(24): Show c.1205_*1206insGTGTGTGTGTGTG	SORBS3	ENSG00000120896.14	transcript	ENST00000240123.12	protein_coding		146		chr8	TogoVar
SORCS1_chr10_106568663_107169706	106599367	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp1 HG02723.hp1 others(1): Show HG02258.hp1 HG02559.hp1 HG02723.hp1 HG02886.hp2	a0001 a0001	a0001c0003 a0001c0007 a0001c0014 a0001c0003 a0001c0007 a0001c0014	a0001c0003t0001 a0001c0007t0021 a0001c0014t0001 a0001c0003t0001 a0001c0007t0021 a0001c0014t0001	a0001c0003t0001g0056 a0001c0003t0001g0089 a0001c0007t0021g0113 others(1): Show a0001c0003t0001g0056 a0001c0003t0001g0089 a0001c0007t0021g0113 a0001c0014t0001g0068	4	129	0.0310	13	c.316 others(32): Show c.3166-1918_3166-1917insTTTTTTTTTTTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	23/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106674328	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00597.hp1 HG00639.hp2 others(2): Show HG00558.hp2 HG00597.hp1 HG00639.hp2 HG02083.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0003 a0001c0004t0002 a0001c0005t0001	a0001c0001t0001g0110 a0001c0001t0003g0083 a0001c0002t0003g0081 others(2): Show a0001c0001t0001g0110 a0001c0001t0003g0083 a0001c0002t0003g0081 a0001c0004t0002g0115 a0001c0005t0001g0062	5	32	0.1563	13	c.194 others(30): Show c.1940+708_1940+720dupTTTTTTTTTTTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	14/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106736602	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0063 a0001c0002t0003g0063	1	82	0.0122	13	c.960 others(30): Show c.960-6501_960-6489dupTTTTTTTTTTTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	5/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106751058	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02280.hp2 HG02965.hp2 others(2): Show HG01891.hp2 HG02280.hp2 HG02965.hp2 NA18522.hp1 NA19240.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0018 a0005c0010 a0001c0001 a0001c0018 a0005c0010	a0001c0001t0002 a0001c0018t0001 a0005c0010t0001 a0001c0001t0002 a0001c0018t0001 a0005c0010t0001	a0001c0001t0002g0012 a0001c0001t0002g0059 a0001c0001t0002g0061 others(2): Show a0001c0001t0002g0012 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0018t0001g0038 a0005c0010t0001g0125	5	14	0.3571	13	c.959 others(32): Show c.959+10517_959+10529dupTTTTTTTTTTTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	5/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106822782	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0018 a0003c0008t0005g0018	1	91	0.0110	13	c.726 others(30): Show c.726+6779_726+6791dupAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	3/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106889888	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19030.hp1 HG03139.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0006 a0001c0001t0001 a0001c0002t0006	a0001c0001t0001g0055 a0001c0002t0006g0051 a0001c0001t0001g0055 a0001c0002t0006g0051	2	75	0.0267	13	c.627 others(32): Show c.627-60228_627-60216dupTTTTTTTTTTTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106891504	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG02559.hp1 others(13): Show HG00408.hp1 HG00438.hp2 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02895.hp2 HG02976.hp2 HG03453.hp1 HG03516.hp1 HG03579.hp2 HG03710.hp2 HG04199.hp2 NA18522.hp2 NA18981.hp2 NA19043.hp2 NA19070.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0003 others(5): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0014 a0002c0006 a0004c0023	a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 others(8): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0003t0001 a0001c0003t0002 a0001c0004t0013 a0001c0005t0001 a0001c0014t0001 a0002c0006t0001 a0004c0023t0006	a0001c0001t0004g0053 a0001c0001t0004g0080 a0001c0002t0001g0037 others(13): Show a0001c0001t0004g0053 a0001c0001t0004g0080 a0001c0002t0001g0037 a0001c0002t0003g0058 a0001c0002t0006g0057 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0001g0070 a0001c0003t0001g0120 a0001c0003t0002g0005 a0001c0003t0002g0029 a0001c0004t0013g0013 a0001c0005t0001g0109 a0001c0014t0001g0068 a0002c0006t0001g0017 a0004c0023t0006g0091	16	60	0.2667	13	c.627 others(32): Show c.627-61844_627-61832dupAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106944874	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 NA19070.hp2 HG00408.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0023 a0001c0002t0003 a0001c0004t0023	a0001c0002t0003g0026 a0001c0004t0023g0130 a0001c0002t0003g0026 a0001c0004t0023g0130	2	74	0.0270	13	c.626 others(32): Show c.626+11626_626+11638dupAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106963110	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00558.hp1 others(11): Show HG00544.hp1 HG00544.hp2 HG00558.hp1 HG01258.hp2 HG02056.hp2 HG02071.hp1 HG02257.hp2 HG02258.hp2 HG02896.hp1 HG03041.hp2 HG03209.hp1 HG03579.hp1 NA18977.hp2 NA18981.hp1	a0001 a0009 a0001 a0009	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0022 a0009c0020	a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 others(8): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0018 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0003t0015 a0001c0004t0004 a0001c0022t0001 a0009c0020t0001	a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0004g0004 others(11): Show a0001c0001t0002g0066 a0001c0001t0002g0069 a0001c0001t0004g0004 a0001c0001t0004g0079 a0001c0001t0008g0001 a0001c0001t0018g0085 a0001c0002t0001g0095 a0001c0002t0002g0028 a0001c0002t0002g0077 a0001c0003t0001g0090 a0001c0003t0015g0035 a0001c0004t0004g0107 a0001c0022t0001g0010 a0009c0020t0001g0098	14	39	0.3590	13	c.559 others(30): Show c.559-6543_559-6531dupAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106970336	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18943.hp1 NA18977.hp1 HG00544.hp2 NA18943.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0004 a0001c0002t0003 a0001c0004t0004	a0001c0002t0003g0075 a0001c0002t0003g0106 a0001c0004t0004g0107 a0001c0002t0003g0075 a0001c0002t0003g0106 a0001c0004t0004g0107	3	42	0.0714	13	c.559 others(32): Show c.559-13769_559-13757dupAAAAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106976333	G G	GTTTTTTT others(6): Show GTTTTTTTTTTGTT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01433.hp2 NA18943.hp1 others(1): Show HG00597.hp2 HG01433.hp2 NA18943.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0002 a0001c0005	a0001c0002t0003 a0001c0005t0002 a0001c0002t0003 a0001c0005t0002	a0001c0002t0003g0075 a0001c0002t0003g0106 a0001c0002t0003g0114 others(1): Show a0001c0002t0003g0075 a0001c0002t0003g0106 a0001c0002t0003g0114 a0001c0005t0002g0030	4	78	0.0513	13	c.559 others(32): Show c.559-19754_559-19753insAACAAAAAAAAAA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	106994086	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02965.hp1 HG02559.hp1 HG02965.hp1	a0001 a0004 a0001 a0004	a0001c0014 a0004c0024 a0001c0014 a0004c0024	a0001c0014t0001 a0004c0024t0001 a0001c0014t0001 a0004c0024t0001	a0001c0014t0001g0068 a0004c0024t0001g0040 a0001c0014t0001g0068 a0004c0024t0001g0040	2	68	0.0294	13	c.559 others(32): Show c.559-37507_559-37506insCTTTTTTTTTTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107034680	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0005 a0003c0008t0005	a0003c0008t0005g0092 a0003c0008t0005g0092	1	26	0.0385	13	c.559 others(32): Show c.559-78113_559-78101dupTTTTTTTTTTTTT	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS1_chr10_106568663_107169706	107065510	C C	CTCCTCTC others(6): Show CTCCTCTCTTTCTT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	56	0.0179	13	c.558 others(32): Show c.558+98458_558+98459insAAGAAAGAGAGGA	SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25			chr10	TogoVar
SORCS2_chr4_7187538_7747827	7360571	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp2 HG02056.hp2 others(6): Show HG01069.hp1 HG01071.hp2 HG02056.hp2 HG02109.hp1 HG02165.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG03471.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0002 a0001c0003 a0001c0005 others(4): Show a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0016 a0003c0013 a0010c0032	a0001c0002t0001 a0001c0002t0007 a0001c0003t0002 others(5): Show a0001c0002t0001 a0001c0002t0007 a0001c0003t0002 a0001c0005t0001 a0001c0010t0060 a0001c0016t0006 a0003c0013t0030 a0010c0032t0019	a0001c0002t0001g0087 a0001c0002t0007g0158 a0001c0002t0007g0159 others(6): Show a0001c0002t0001g0087 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0003t0002g0073 a0001c0005t0001g0156 a0001c0010t0060g0167 a0001c0016t0006g0039 a0003c0013t0030g0041 a0010c0032t0019g0149	9	13	0.6923	13	c.481 others(32): Show c.481-35704_481-35692dupTTTTTTTTTTTTT	SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr4	TogoVar

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