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	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
SOBP_chr6_107485117_107666306	107521908	AAACACAC others(6): Show AAACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0240 a0001c0001t0004g0240	1	294	0.0034	-13	c.422 others(32): Show c.422-11549_422-11537delACACACACACACA		SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding	3/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
SOBP_chr6_107485117_107666306	107649163	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0198 a0001c0001t0007g0198	1	36	0.0278	-13	c.4- others(28): Show c.4-9029_*4-9017delAAAAAAAAAAAAA		SOBP	ENSG00000112320.12	transcript	ENST00000317357.10	protein_coding	6/6					INFO_REALIGN_3_PRIME	chr6	TogoVar
SOCS4_chr14_55022236_55054489	55025405	TTTCTCTA others(6): Show TTTCTCTATACTTA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp1 HG02486.hp2 others(13): Show HG02109.hp2 HG02257.hp1 HG02486.hp2 HG02559.hp2 HG02683.hp1 HG02723.hp1 HG02970.hp1 HG03688.hp1 HG03704.hp1 HG03834.hp1 NA18522.hp2 NA18955.hp2 NA18965.hp1 NA18968.hp1 NA19055.hp2 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0026 a0001c0001t0001 a0001c0001t0016 a0001c0001t0026	a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0018 others(6): Show a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0018 a0001c0001t0001g0035 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0102 a0001c0001t0016g0039 a0001c0001t0026g0009	16	392	0.0408	-13	c.-22 others(24): Show c.-2285_-2273delTTCTCTATACTTA		SOCS4	ENSG00000180008.9	transcript	ENST00000555846.2	protein_coding					1830		chr14	TogoVar
SOCS6_chr18_70284045_70335199	70317541	CTTCATAT others(6): Show CTTCATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp2 HG02257.hp1 others(1): Show HG01109.hp2 HG02055.hp2 HG02257.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0002 a0001c0001t0015	a0001c0001t0002g0080 a0001c0001t0002g0137 a0001c0001t0002g0243 others(1): Show a0001c0001t0002g0080 a0001c0001t0002g0137 a0001c0001t0002g0243 a0001c0001t0015g0117	4	356	0.0112	-13	c.-12 others(32): Show c.-126-7001_-126-6989delTTCATATATACAT		SOCS6	ENSG00000170677.6	transcript	ENST00000397942.4	protein_coding	1/1						chr18	TogoVar
SOD1_chr21_31654693_31673931	31655517	GTCCAGAC others(6): Show GTCCAGACTTAAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	1	424	0.0024	-13	c.-42 others(24): Show c.-4252_-4240delTCCAGACTTAAGA		SOD1	ENSG00000142168.15	transcript	ENST00000270142.11	protein_coding					4175		chr21	TogoVar
SOGA1_chr20_36772447_36868538	36826340	TCCCTCCC others(6): Show TCCCTCCCCCTCCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0018 a0005c0013t0018	a0005c0013t0018g0010 a0005c0013t0018g0010	1	257	0.0039	-13	c.107 others(32): Show c.1071+2701_1071+2713delGGGAGGGGGAGGG		SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	3/14						chr20	TogoVar
SOGA1_chr20_36772447_36868538	36841155	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0086 a0001c0002t0003g0086	1	35	0.0286	-13	c.688 others(30): Show c.688-1727_688-1715delTTTTTTTTTTTTT		SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14						chr20	TogoVar
SON_chr21_33538038_33582481	33580463	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG01884.hp1 others(22): Show HG00438.hp1 HG00438.hp2 HG01884.hp1 HG01928.hp2 HG02027.hp1 HG02074.hp1 HG02155.hp2 HG02738.hp2 HG03471.hp1 NA18522.hp1 NA18942.hp1 NA18945.hp1 NA18960.hp2 NA18962.hp1 NA18970.hp2 NA18973.hp2 NA18980.hp1 NA18990.hp2 NA19006.hp1 NA19006.hp2 NA19067.hp2 NA19082.hp2 NA19086.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0019 others(1): Show a0001 a0002 a0019 a0027	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0029 a0019c0019 a0027c0046	a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0001 a0002c0003t0001 a0002c0029t0001 a0019c0019t0001 a0027c0046t0001	a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0004g0004 others(18): Show a0001c0001t0001g0067 a0001c0001t0001g0118 a0001c0001t0004g0004 a0001c0002t0001g0002 a0002c0003t0001g0003 a0002c0003t0001g0018 a0002c0003t0001g0029 a0002c0003t0001g0051 a0002c0003t0001g0054 a0002c0003t0001g0055 a0002c0003t0001g0056 a0002c0003t0001g0166 a0002c0003t0001g0168 a0002c0003t0001g0175 a0002c0003t0001g0176 a0002c0003t0001g0178 a0002c0003t0001g0180 a0002c0003t0001g0210 a0002c0029t0001g0027 a0019c0019t0001g0169 a0027c0046t0001g0179	25	33	0.7576	-13	c.40 others(24): Show c.4040_*4052delAAAAAAAAAAAAA		SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding					2983		chr21	TogoVar
SORBS1_chr10_95306773_95566371	95413966	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02615.hp1 NA19240.hp2 HG02486.hp2 HG02615.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0002c0023 a0001c0004 a0002c0006 a0002c0023	a0001c0004t0005 a0002c0006t0002 a0002c0023t0001 a0001c0004t0005 a0002c0006t0002 a0002c0023t0001	a0001c0004t0005g0290 a0002c0006t0002g0075 a0002c0023t0001g0082 a0001c0004t0005g0290 a0002c0006t0002g0075 a0002c0023t0001g0082	3	37	0.0811	-13	c.810 others(28): Show c.810+515_810+527delTTTTTTTTTTTTT		SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	9/32						chr10	TogoVar
SORBS1_chr10_95306773_95566371	95488755	CACATGCA others(6): Show CACATGCAACCTAG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02109.hp1 HG02257.hp1 others(14): Show HG00639.hp1 HG02109.hp1 HG02257.hp1 HG02451.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02818.hp1 HG02896.hp2 HG03209.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp2 NA19030.hp1 NA19043.hp2 NA21309.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0003 a0002c0006 others(3): Show a0001c0002 a0001c0003 a0002c0006 a0002c0007 a0002c0033 a0003c0010	a0001c0002t0001 a0001c0003t0001 a0001c0003t0019 others(5): Show a0001c0002t0001 a0001c0003t0001 a0001c0003t0019 a0002c0006t0002 a0002c0007t0002 a0002c0007t0013 a0002c0033t0001 a0003c0010t0001	a0001c0002t0001g0037 a0001c0002t0001g0099 a0001c0003t0001g0015 others(14): Show a0001c0002t0001g0037 a0001c0002t0001g0099 a0001c0003t0001g0015 a0001c0003t0001g0119 a0001c0003t0019g0020 a0002c0006t0002g0030 a0002c0006t0002g0101 a0002c0006t0002g0106 a0002c0006t0002g0279 a0002c0007t0002g0069 a0002c0007t0013g0093 a0002c0007t0013g0143 a0002c0033t0001g0285 a0003c0010t0001g0163 a0003c0010t0001g0164 a0003c0010t0001g0165 a0003c0010t0001g0275	17	298	0.0570	-13	c.-46 others(30): Show c.-46+2267_-46+2279delCTAGGTTGCATGT		SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	2/32						chr10	TogoVar
SORBS2_chr4_185580523_185817194	185580641	TAGAGATG others(6): Show TAGAGATGAGAATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0126 a0001c0001t0002g0126	1	310	0.0032	-13	c.69 others(24): Show c.6973_*6985delTATTCTCATCTCT		SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding					4881		chr4	TogoVar
SORBS2_chr4_185580523_185817194	185806434	CTATTTTT others(6): Show CTATTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02071.hp2 HG02280.hp2 others(8): Show HG00323.hp1 HG02071.hp2 HG02280.hp2 HG02572.hp1 HG03041.hp1 HG03471.hp1 HG03942.hp1 HG06807.hp2 NA18747.hp2 NA18984.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0010	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0002c0012 a0002c0014 a0003c0020 a0010c0039	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(8): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0009 a0001c0001t0014 a0001c0002t0034 a0001c0003t0001 a0002c0012t0056 a0002c0014t0014 a0003c0020t0073 a0010c0039t0003	a0001c0001t0003g0292 a0001c0001t0004g0113 a0001c0001t0007g0068 others(8): Show a0001c0001t0003g0292 a0001c0001t0004g0113 a0001c0001t0007g0068 a0001c0001t0009g0243 a0001c0001t0014g0089 a0001c0002t0034g0004 a0001c0003t0001g0273 a0002c0012t0056g0044 a0002c0014t0014g0294 a0003c0020t0073g0295 a0010c0039t0003g0312	11	15	0.7333	-13	c.-23 others(32): Show c.-237+5217_-237+5229delAAAAAAAAAAATA		SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26						chr4	TogoVar
SORCS1_chr10_106568663_107169706	106751058	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01993.hp1 HG02040.hp1 others(12): Show HG00408.hp2 HG01993.hp1 HG02040.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp2 HG02280.hp1 HG02622.hp1 HG02886.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 NA18981.hp2 NA18995.hp1 NA19043.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0010c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0002t0002 a0001c0003t0001 a0001c0004t0023 a0010c0012t0005	a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0003g0042 others(12): Show a0001c0001t0001g0006 a0001c0001t0001g0034 a0001c0001t0003g0042 a0001c0001t0004g0015 a0001c0001t0004g0053 a0001c0001t0004g0060 a0001c0001t0004g0094 a0001c0001t0012g0082 a0001c0002t0002g0028 a0001c0002t0002g0045 a0001c0002t0002g0111 a0001c0003t0001g0100 a0001c0003t0001g0116 a0001c0004t0023g0130 a0010c0012t0005g0067	15	24	0.6250	-13	c.959 others(32): Show c.959+10517_959+10529delTTTTTTTTTTTTT		SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	5/25						chr10	TogoVar
SORCS1_chr10_106568663_107169706	106874649	TAGCAGAT others(6): Show TAGCAGATGACATA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG06807.hp2 NA18906.hp2 HG02896.hp2 HG06807.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0007 a0001c0002t0001 a0001c0004t0007	a0001c0002t0001g0122 a0001c0004t0007g0002 a0001c0004t0007g0046 a0001c0002t0001g0122 a0001c0004t0007g0002 a0001c0004t0007g0046	3	130	0.0231	-13	c.627 others(32): Show c.627-44989_627-44977delTATGTCATCTGCT		SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	2/25						chr10	TogoVar
SORCS2_chr4_7187538_7747827	7314328	TTTTATTT others(6): Show TTTTATTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00733.hp1 HG01261.hp1 others(20): Show HG00438.hp2 HG00733.hp1 HG01261.hp1 HG01952.hp2 HG02040.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02293.hp1 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03225.hp1 HG03239.hp1 HG03688.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA19043.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0011 others(1): Show a0001 a0002 a0011 a0015	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0001c0017 a0001c0026 a0002c0004 a0011c0023 a0015c0054	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(17): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0029 a0001c0002t0002 a0001c0002t0011 a0001c0003t0010 a0001c0003t0014 a0001c0003t0015 a0001c0003t0023 a0001c0005t0016 a0001c0011t0045 a0001c0017t0002 a0001c0026t0004 a0002c0004t0007 a0002c0004t0022 a0002c0004t0047 a0011c0023t0009 a0015c0054t0020	a0001c0001t0002g0067 a0001c0001t0002g0130 a0001c0001t0003g0003 others(20): Show a0001c0001t0002g0067 a0001c0001t0002g0130 a0001c0001t0003g0003 a0001c0001t0005g0014 a0001c0001t0012g0047 a0001c0001t0029g0141 a0001c0002t0002g0069 a0001c0002t0002g0133 a0001c0002t0011g0112 a0001c0003t0010g0001 a0001c0003t0010g0021 a0001c0003t0014g0140 a0001c0003t0015g0091 a0001c0003t0023g0147 a0001c0005t0016g0104 a0001c0011t0045g0107 a0001c0017t0002g0056 a0001c0026t0004g0049 a0002c0004t0007g0136 a0002c0004t0022g0057 a0002c0004t0047g0134 a0011c0023t0009g0122 a0015c0054t0020g0113	23	168	0.1369	-13	c.481 others(32): Show c.481-81956_481-81944delATTTTTTTTATTT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7317662	CAGGGCTG others(6): Show CAGGGCTGAGGCTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00639.hp1 HG01069.hp1 others(53): Show HG00438.hp2 HG00639.hp1 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01175.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01891.hp1 HG01952.hp2 HG02040.hp2 HG02055.hp1 HG02148.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp1 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG04115.hp1 HG04115.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA19043.hp1 NA19066.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2	a0001 a0002 a0003 others(8): Show a0001 a0002 a0003 a0004 a0005 a0006 a0009 a0011 a0013 a0015 a0016	a0001c0001 a0001c0002 a0001c0003 others(23): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0009 a0001c0010 a0001c0011 a0001c0015 a0001c0017 a0001c0026 a0001c0028 a0001c0029 a0001c0041 a0001c0047 a0002c0004 a0003c0013 a0003c0035 a0004c0043 a0005c0018 a0006c0008 a0009c0024 a0011c0023 a0013c0055 a0015c0054 a0016c0040	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(48): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0001c0001t0029 a0001c0001t0058 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0007 a0001c0002t0011 a0001c0002t0035 a0001c0003t0010 a0001c0003t0011 a0001c0003t0014 a0001c0003t0015 a0001c0003t0016 a0001c0003t0020 a0001c0003t0023 a0001c0005t0003 a0001c0005t0005 a0001c0005t0016 a0001c0006t0002 a0001c0009t0001 a0001c0009t0037 a0001c0010t0026 a0001c0010t0059 a0001c0011t0045 a0001c0015t0011 a0001c0017t0002 a0001c0026t0004 a0001c0028t0027 a0001c0029t0061 a0001c0041t0006 a0001c0047t0057 a0002c0004t0007 a0002c0004t0022 a0002c0004t0047 a0003c0013t0018 a0003c0013t0030 a0003c0035t0008 a0004c0043t0031 a0005c0018t0043 a0006c0008t0006 a0009c0024t0002 a0011c0023t0009 a0013c0055t0006 a0015c0054t0020 a0016c0040t0003	a0001c0001t0002g0067 a0001c0001t0002g0130 a0001c0001t0003g0168 others(53): Show a0001c0001t0002g0067 a0001c0001t0002g0130 a0001c0001t0003g0168 a0001c0001t0005g0014 a0001c0001t0006g0125 a0001c0001t0012g0047 a0001c0001t0013g0011 a0001c0001t0029g0141 a0001c0001t0058g0161 a0001c0002t0001g0123 a0001c0002t0002g0069 a0001c0002t0002g0133 a0001c0002t0003g0018 a0001c0002t0007g0076 a0001c0002t0007g0158 a0001c0002t0007g0159 a0001c0002t0011g0112 a0001c0002t0035g0020 a0001c0003t0010g0001 a0001c0003t0010g0021 a0001c0003t0011g0080 a0001c0003t0014g0140 a0001c0003t0015g0091 a0001c0003t0016g0023 a0001c0003t0020g0043 a0001c0003t0023g0147 a0001c0005t0003g0032 a0001c0005t0005g0102 a0001c0005t0016g0104 a0001c0006t0002g0165 a0001c0009t0001g0151 a0001c0009t0037g0042 a0001c0010t0026g0105 a0001c0010t0059g0163 a0001c0011t0045g0107 a0001c0015t0011g0002 a0001c0017t0002g0056 a0001c0026t0004g0049 a0001c0028t0027g0152 a0001c0029t0061g0162 a0001c0041t0006g0031 a0001c0047t0057g0051 a0002c0004t0007g0136 a0002c0004t0022g0057 a0002c0004t0047g0134 a0003c0013t0018g0100 a0003c0013t0030g0041 a0003c0035t0008g0075 a0004c0043t0031g0058 a0005c0018t0043g0145 a0006c0008t0006g0155 a0009c0024t0002g0108 a0011c0023t0009g0122 a0013c0055t0006g0150 a0015c0054t0020g0113 a0016c0040t0003g0024	56	168	0.3333	-13	c.481 others(32): Show c.481-78622_481-78610delGCTGAGGCTTAGG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7328018	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02647.hp1 HG02717.hp1 others(1): Show HG01891.hp2 HG02647.hp1 HG02717.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0015 a0001c0016 a0004c0007 others(1): Show a0001c0015 a0001c0016 a0004c0007 a0004c0044	a0001c0015t0011 a0001c0016t0006 a0004c0007t0001 others(1): Show a0001c0015t0011 a0001c0016t0006 a0004c0007t0001 a0004c0044t0041	a0001c0015t0011g0015 a0001c0016t0006g0039 a0004c0007t0001g0026 others(1): Show a0001c0015t0011g0015 a0001c0016t0006g0039 a0004c0007t0001g0026 a0004c0044t0041g0016	4	51	0.0784	-13	c.481 others(32): Show c.481-68257_481-68245delTTTTTTTTTTTTT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7387640	CACATGCC others(6): Show CACATGCCCACCAT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01167.hp1 HG01175.hp1 others(27): Show HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01361.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02056.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02809.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03239.hp2 HG03540.hp1 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0008 a0012	a0001c0001 a0001c0002 a0001c0003 others(14): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0010 a0001c0015 a0001c0017 a0001c0028 a0001c0033 a0002c0004 a0003c0012 a0003c0042 a0004c0007 a0006c0045 a0008c0056 a0012c0039	a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 others(23): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0013 a0001c0001t0017 a0001c0001t0029 a0001c0001t0054 a0001c0002t0003 a0001c0003t0011 a0001c0003t0014 a0001c0003t0015 a0001c0003t0020 a0001c0005t0008 a0001c0006t0001 a0001c0006t0002 a0001c0010t0059 a0001c0015t0011 a0001c0017t0015 a0001c0028t0027 a0001c0033t0062 a0002c0004t0005 a0003c0012t0046 a0003c0042t0004 a0004c0007t0001 a0006c0045t0001 a0008c0056t0018 a0012c0039t0049	a0001c0001t0003g0097 a0001c0001t0003g0138 a0001c0001t0003g0168 others(27): Show a0001c0001t0003g0097 a0001c0001t0003g0138 a0001c0001t0003g0168 a0001c0001t0006g0125 a0001c0001t0013g0011 a0001c0001t0017g0052 a0001c0001t0029g0141 a0001c0001t0054g0007 a0001c0002t0003g0028 a0001c0003t0011g0080 a0001c0003t0014g0034 a0001c0003t0015g0091 a0001c0003t0020g0043 a0001c0005t0008g0065 a0001c0005t0008g0154 a0001c0006t0001g0054 a0001c0006t0002g0165 a0001c0010t0059g0163 a0001c0015t0011g0002 a0001c0015t0011g0015 a0001c0017t0015g0124 a0001c0028t0027g0152 a0001c0033t0062g0160 a0002c0004t0005g0083 a0003c0012t0046g0033 a0003c0042t0004g0066 a0004c0007t0001g0126 a0006c0045t0001g0148 a0008c0056t0018g0061 a0012c0039t0049g0064	30	168	0.1786	-13	c.481 others(30): Show c.481-8644_481-8632delTGCCCACCATACA		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403985	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00733.hp2 HG01070.hp1 others(9): Show HG00099.hp2 HG00733.hp2 HG01070.hp1 HG01071.hp1 HG01106.hp1 HG01109.hp1 HG01192.hp2 HG01243.hp1 HG01258.hp2 HG02293.hp1 HG02300.hp2 NA19066.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0016 a0001c0047 a0002c0004 a0005c0018	a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 others(8): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0012 a0001c0002t0035 a0001c0003t0002 a0001c0003t0009 a0001c0016t0001 a0001c0047t0057 a0002c0004t0009 a0005c0018t0043	a0001c0001t0004g0048 a0001c0001t0004g0098 a0001c0001t0005g0085 others(9): Show a0001c0001t0004g0048 a0001c0001t0004g0098 a0001c0001t0005g0085 a0001c0001t0009g0142 a0001c0001t0012g0047 a0001c0002t0035g0020 a0001c0003t0002g0079 a0001c0003t0009g0135 a0001c0016t0001g0009 a0001c0047t0057g0051 a0002c0004t0009g0078 a0005c0018t0043g0145	12	149	0.0805	-13	c.548 others(30): Show c.548+7632_548+7644delATATATATATATT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403987	ATATATAT others(6): Show ATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01123.hp2 HG01069.hp2 HG01123.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0004 a0001c0002 a0002c0004	a0001c0002t0008 a0002c0004t0004 a0001c0002t0008 a0002c0004t0004	a0001c0002t0008g0121 a0002c0004t0004g0012 a0001c0002t0008g0121 a0002c0004t0004g0012	2	157	0.0127	-13	c.548 others(30): Show c.548+7634_548+7646delATATATATATTTT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7572389	TTTAATCA others(6): Show TTTAATCATTTACG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02451.hp1 NA18522.hp2 HG02258.hp1 HG02451.hp1 NA18522.hp2	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0003 a0003c0013 a0005c0021 a0001c0003 a0003c0013 a0005c0021	a0001c0003t0014 a0003c0013t0018 a0005c0021t0056 a0001c0003t0014 a0003c0013t0018 a0005c0021t0056	a0001c0003t0014g0034 a0003c0013t0018g0100 a0005c0021t0056g0103 a0001c0003t0014g0034 a0003c0013t0018g0100 a0005c0021t0056g0103	3	168	0.0179	-13	c.648 others(32): Show c.648+40763_648+40775delAATCATTTACGTT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7633544	CTTGCTTG others(6): Show CTTGCTTGGACCAT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01069.hp2 others(10): Show HG00323.hp2 HG00639.hp1 HG01069.hp2 HG01123.hp1 HG01258.hp1 HG01346.hp2 HG01934.hp2 HG02293.hp2 HG02486.hp1 HG02886.hp2 HG03688.hp1 HG04115.hp2 NA18906.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0002 a0001c0003 a0001c0006 others(6): Show a0001c0002 a0001c0003 a0001c0006 a0001c0011 a0001c0029 a0001c0034 a0002c0004 a0003c0012 a0004c0043	a0001c0002t0003 a0001c0002t0008 a0001c0002t0011 others(10): Show a0001c0002t0003 a0001c0002t0008 a0001c0002t0011 a0001c0003t0010 a0001c0006t0001 a0001c0006t0002 a0001c0006t0052 a0001c0011t0015 a0001c0029t0061 a0001c0034t0005 a0002c0004t0004 a0003c0012t0046 a0004c0043t0031	a0001c0002t0003g0082 a0001c0002t0008g0008 a0001c0002t0011g0112 others(10): Show a0001c0002t0003g0082 a0001c0002t0008g0008 a0001c0002t0011g0112 a0001c0003t0010g0001 a0001c0006t0001g0119 a0001c0006t0002g0118 a0001c0006t0052g0084 a0001c0011t0015g0077 a0001c0029t0061g0162 a0001c0034t0005g0093 a0002c0004t0004g0012 a0003c0012t0046g0033 a0004c0043t0031g0058	13	168	0.0774	-13	c.649 others(30): Show c.649-4783_649-4771delTTGCTTGGACCAT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	3/26						chr4	TogoVar
SORCS2_chr4_7187538_7747827	7724294	AATGGTGA others(6): Show AATGGTGACAATGG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 NA19043.hp1 HG02886.hp2 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0029 a0001c0003 a0001c0029	a0001c0003t0023 a0001c0029t0061 a0001c0003t0023 a0001c0029t0061	a0001c0003t0023g0147 a0001c0029t0061g0162 a0001c0003t0023g0147 a0001c0029t0061g0162	2	168	0.0119	-13	c.261 others(30): Show c.2611+412_2611+424delATGGTGACAATGG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	19/26						chr4	TogoVar
SORCS3_chr10_104636290_105270242	104671325	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0008 a0001c0002t0001g0008	1	6	0.1667	-13	c.627 others(32): Show c.627+29386_627+29398delTTTTTTTTTTTTT		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104706201	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03471.hp1 HG02965.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0011 a0001c0002t0001g0075 a0001c0001t0002g0011 a0001c0002t0001g0075	2	95	0.0211	-13	c.627 others(32): Show c.627+64260_627+64272delTTTTTTTTTTTTT		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940230	ATATATAT others(6): Show ATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0010 a0001c0003t0002g0010	1	126	0.0079	-13	c.795 others(32): Show c.795+24300_795+24312delATATATATTTTTT		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940232	ATATATAT others(6): Show ATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	121	0.0083	-13	c.795 others(32): Show c.795+24302_795+24314delATATATTTTTTTT		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940234	ATATATTT others(6): Show ATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	121	0.0083	-13	c.795 others(32): Show c.795+24304_795+24316delATATTTTTTTTTT		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104952255	GAAAAAAA others(6): Show GAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19090.hp2 NA19079.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0093 a0001c0001t0002g0111 a0001c0001t0002g0093 a0001c0001t0002g0111	2	4	0.5000	-13	c.796 others(32): Show c.796-25060_796-25048delAAAAAAAAAAAAA		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORL1_chr11_121447314_121638763	121502124	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03195.hp1 NA18612.hp2 others(1): Show HG02723.hp2 HG03195.hp1 NA18612.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0032 a0001c0038 a0001c0002 a0001c0032 a0001c0038	a0001c0002t0001 a0001c0002t0004 a0001c0032t0003 others(1): Show a0001c0002t0001 a0001c0002t0004 a0001c0032t0003 a0001c0038t0002	a0001c0002t0001g0083 a0001c0002t0004g0090 a0001c0032t0003g0149 others(1): Show a0001c0002t0001g0083 a0001c0002t0004g0090 a0001c0032t0003g0149 a0001c0038t0002g0186	4	76	0.0526	-13	c.939 others(30): Show c.939+5092_939+5104delTTTTTTTTTTTTT		SORL1	ENSG00000137642.13	transcript	ENST00000260197.12	protein_coding	6/47					INFO_REALIGN_3_PRIME	chr11	TogoVar
SORT1_chr1_109304575_109402918	109343348	CAACTCCA others(6): Show CAACTCCAGTGGAT	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19011.hp2 NA19066.hp2 HG02056.hp1 NA19011.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0028 a0001c0001t0014g0030 a0001c0001t0014g0068 a0001c0001t0002g0028 a0001c0001t0014g0030 a0001c0001t0014g0068	3	238	0.0126	-13	c.964 others(30): Show c.964-1203_964-1191delATCCACTGGAGTT		SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	8/19						chr1	TogoVar
SORT1_chr1_109304575_109402918	109378749	TATATATA others(6): Show TATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02647.hp2 HG02572.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0034 a0001c0001t0002g0075 a0001c0001t0002g0034 a0001c0001t0002g0075	2	238	0.0084	-13	c.307 others(30): Show c.307-9173_307-9161delTATATATATATAT		SORT1	ENSG00000134243.12	transcript	ENST00000256637.8	protein_coding	1/19						chr1	TogoVar
SOS1_chr2_38976549_39126051	39035020	ATAAAATT others(6): Show ATAAAATTCACTAC	A A	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	244	0.0041	-13	c.107 others(30): Show c.1074+179_1074+191delGTAGTGAATTTTA		SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	8/22						chr2	TogoVar
SOS1_chr2_38976549_39126051	39102204	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	35	0.0286	-13	c.87+ others(30): Show c.87+18119_87+18131delTTTTTTTTTTTTT		SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22						chr2	TogoVar
SOS1_chr2_38976549_39126051	39102530	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0189 a0001c0001t0035g0189	1	16	0.0625	-13	c.87+ others(30): Show c.87+17793_87+17805delTTTTTTTTTTTTT		SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22						chr2	TogoVar
SOS2_chr14_50112130_50236578	50212367	GGGAGGCT others(6): Show GGGAGGCTGAGGCA	G G	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0209	1	380	0.0026	-13	c.88- others(28): Show c.88-7971_88-7959delTGCCTCAGCCTCC		SOS2	ENSG00000100485.12	transcript	ENST00000216373.10	protein_coding	1/22						chr14	TogoVar
SOST_chr17_43748738_43763791	43763014	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02015.hp1 NA18946.hp1 others(2): Show HG01981.hp1 HG02015.hp1 NA18946.hp1 NA18965.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0013	a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0007g0011 others(1): Show a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0007g0011 a0001c0001t0013g0032	5	51	0.0980	-13	c.-42 others(24): Show c.-4286_-4274delAAAAAAAAAAAAA		SOST	ENSG00000167941.3	transcript	ENST00000301691.3	protein_coding					4224		chr17	TogoVar
SOWAHB_chr4_76889152_76903144	76900854	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp2 HG06807.hp1 HG01109.hp2 HG01891.hp2 HG06807.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0016 a0008c0010 a0001c0001 a0001c0016 a0008c0010	a0001c0001t0001 a0001c0016t0012 a0008c0010t0001 a0001c0001t0001 a0001c0016t0012 a0008c0010t0001	a0001c0001t0001g0000 a0001c0016t0012g0000 a0008c0010t0001g0000 a0001c0001t0001g0000 a0001c0016t0012g0000 a0008c0010t0001g0000	3	435	0.0069	-13	c.-30 others(24): Show c.-3018_-3006delGTTTTTTTTTTTT		SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding					2711		chr4	TogoVar
SOX12_chr20_320552_335224	326504	CGGGCCGC others(6): Show CGGGCCGCTCGGGG	C C	frameshift_variant frameshift_variant	HIGH	NA18963.hp2 NA18963.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0000 a0004c0006t0003g0000	1	398	0.0025	-13	c.581 others(20): Show c.581_593delGGGCCGCTCGGGG	p.Arg others(5): Show p.Arg194fs	SOX12	ENSG00000177732.9	transcript	ENST00000342665.5	protein_coding	1/1	954/4673	581/948	194/315			chr20	TogoVar
SOX2_chr3_181706925_181719436	181708885	CACCATCT others(6): Show CACCATCTTCTTTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	410	0.0024	-13	c.-34 others(24): Show c.-3475_-3463delACCATCTTCTTTA		SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding					3039		chr3	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp1 HG02965.hp1 HG02970.hp1 others(3): Show HG01361.hp1 HG02965.hp1 HG02970.hp1 HG04204.hp2 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0000 a0001c0001t0005g0000 a0001c0001t0001g0000 a0001c0001t0005g0000	6	11	0.5455	-13	c.21 others(24): Show c.2120_*2132delTTTTTTTTTTTTT		SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding					998		chr3	TogoVar
SOX30_chr5_157620679_157657438	157632047	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0024 a0001c0024	a0001c0024t0017 a0001c0024t0017	a0001c0024t0017g0277 a0001c0024t0017g0277	1	121	0.0083	-13	c.188 others(32): Show c.1881-5339_1881-5327delTTTTTTTTTTTTT		SOX30	ENSG00000039600.11	transcript	ENST00000265007.11	protein_coding	4/4						chr5	TogoVar
SOX3_chrX_140497985_140510069	140505322	ACTCAGAG others(6): Show ACTCAGAGGCCACC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	337	0.0030	-13	c.-27 others(22): Show c.-275_-263delGGTGGCCTCTGAG		SOX3	ENSG00000134595.9	transcript	ENST00000370536.5	protein_coding					254		chrX	TogoVar
SOX5_chr12_23524504_23954670	23570923	AAAAAAAA others(6): Show AAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0199 a0001c0001t0016g0199	1	200	0.0050	-13	c.134 others(32): Show c.1342+4725_1342+4737delATATATTTTTTTT		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23570931	ATATATAT others(6): Show ATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01069.hp2 HG01106.hp1 others(20): Show HG00738.hp2 HG01069.hp2 HG01106.hp1 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01516.hp1 HG01993.hp1 HG02040.hp1 HG02132.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG03195.hp1 HG04184.hp2 NA18942.hp1 NA19005.hp1 NA19056.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 others(15): Show a0001c0001t0007 a0001c0001t0009 a0001c0001t0017 a0001c0001t0028 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0049 a0001c0001t0064 a0001c0001t0065 a0001c0001t0070 a0001c0001t0086 a0001c0001t0094 a0001c0001t0107 a0001c0001t0109 a0001c0001t0110 a0001c0001t0111 a0001c0004t0047	a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0007g0198 others(20): Show a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0007g0198 a0001c0001t0009g0017 a0001c0001t0009g0053 a0001c0001t0009g0057 a0001c0001t0017g0028 a0001c0001t0028g0185 a0001c0001t0032g0141 a0001c0001t0034g0015 a0001c0001t0035g0009 a0001c0001t0035g0018 a0001c0001t0049g0021 a0001c0001t0064g0100 a0001c0001t0065g0033 a0001c0001t0070g0137 a0001c0001t0086g0024 a0001c0001t0094g0133 a0001c0001t0107g0211 a0001c0001t0109g0039 a0001c0001t0110g0056 a0001c0001t0111g0104 a0001c0004t0047g0190	23	168	0.1369	-13	c.134 others(32): Show c.1342+4717_1342+4729delATATATATATATA		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23598387	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02896.hp1 HG03225.hp2 others(1): Show HG02717.hp1 HG02896.hp1 HG03225.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0025 a0001c0001t0054 a0001c0003t0080 a0001c0001t0025 a0001c0001t0054 a0001c0003t0080	a0001c0001t0025g0118 a0001c0001t0025g0204 a0001c0001t0054g0154 others(1): Show a0001c0001t0025g0118 a0001c0001t0025g0204 a0001c0001t0054g0154 a0001c0003t0080g0183	4	99	0.0404	-13	c.116 others(32): Show c.1164+5987_1164+5999delAAAAAAAAAAAAA		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23663792	ATAGAATT others(6): Show ATAGAATTTATTCT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01074.hp1 HG01106.hp1 others(14): Show HG00639.hp2 HG01074.hp1 HG01106.hp1 HG01168.hp1 HG01169.hp1 HG01496.hp2 HG02109.hp1 HG02257.hp2 HG02738.hp2 HG02818.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03486.hp2 HG04199.hp1 NA19077.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 others(9): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0011 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0001t0043 a0001c0001t0069 a0001c0001t0081 a0001c0001t0086 a0001c0001t0107 a0001c0001t0110	a0001c0001t0007g0023 a0001c0001t0007g0164 a0001c0001t0007g0165 others(14): Show a0001c0001t0007g0023 a0001c0001t0007g0164 a0001c0001t0007g0165 a0001c0001t0007g0198 a0001c0001t0010g0003 a0001c0001t0010g0173 a0001c0001t0010g0184 a0001c0001t0011g0131 a0001c0001t0016g0147 a0001c0001t0018g0022 a0001c0001t0021g0129 a0001c0001t0043g0149 a0001c0001t0069g0098 a0001c0001t0081g0193 a0001c0001t0086g0024 a0001c0001t0107g0211 a0001c0001t0110g0056	17	210	0.0810	-13	c.931 others(30): Show c.931+1639_931+1651delAGAATAAATTCTA		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	7/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23792622	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0111 a0001c0001t0111	a0001c0001t0111g0104 a0001c0001t0111g0104	1	14	0.0714	-13	c.482 others(32): Show c.482-36911_482-36899delTTTTTTTTTTTTT		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23837313	TTATATTT others(6): Show TTATATTTATATAA	T T	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0095 a0001c0001t0095	a0001c0001t0095g0079 a0001c0001t0095g0079	1	210	0.0048	-13	c.481 others(30): Show c.481+8657_481+8669delTTATATAAATATA		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14						chr12	TogoVar
SOX6_chr11_15961449_16361546	16120957	AATCTTCT others(6): Show AATCTTCTTCAGGT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0068 a0001c0001t0004g0068	1	216	0.0046	-13	c.778 others(30): Show c.778-9047_778-9035delACCTGAAGAAGAT		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	6/15						chr11	TogoVar

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