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
SOCS7_chr17_38346844_38410593	38354474	CCCTTTCT others(8): Show CCCTTTCTGAACAGCT	C C	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01074.hp2 others(7): Show HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01106.hp1 HG01243.hp2 HG01257.hp2 HG01258.hp1 HG01516.hp1 HG02559.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0028 a0001c0002t0005g0029 a0001c0002t0005g0030 others(7): Show a0001c0002t0005g0028 a0001c0002t0005g0029 a0001c0002t0005g0030 a0001c0002t0005g0031 a0001c0002t0005g0032 a0001c0002t0005g0033 a0001c0002t0005g0034 a0001c0002t0005g0035 a0001c0002t0005g0036 a0001c0002t0005g0037	10	288	0.0347	-15	c.980 others(32): Show c.980+1443_980+1457delCCTTTCTGAACAGCT		SOCS7	ENSG00000274211.6	transcript	ENST00000612932.6	protein_coding	1/9						chr17	TogoVar
SOGA1_chr20_36772447_36868538	36858460	GAAAACAC others(8): Show GAAAACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0055 a0001c0002t0008g0055	1	279	0.0036	-15	c.687 others(32): Show c.687+4183_687+4197delGTGTGTGTGTGTTTT		SOGA1	ENSG00000149639.15	transcript	ENST00000237536.9	protein_coding	1/14						chr20	TogoVar
SOGA3_chr6_127467974_127524335	127488616	ATTTGAAA others(8): Show ATTTGAAAAGGTCTAC	A A	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0224 a0001c0022t0001g0224	1	344	0.0029	-15	c.148 others(34): Show c.1486-5647_1486-5633delGTAGACCTTTTCAAA		SOGA3	ENSG00000214338.11	transcript	ENST00000525778.6	protein_coding	4/6						chr6	TogoVar
SOHLH1_chr9_135688407_135704481	135694484	GGCCACAA others(8): Show GGCCACAAGCGGACCC	G G	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	416	0.0024	-15	c.876 others(28): Show c.876-42_876-28delGGGTCCGCTTGTGGC		SOHLH1	ENSG00000165643.11	transcript	ENST00000425225.2	protein_coding	6/7						chr9	TogoVar
SON_chr21_33538038_33582481	33577674	CACACACA others(8): Show CACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp1 NA19240.hp2 HG03471.hp1 NA19240.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0056 a0002c0003t0001g0056	2	362	0.0055	-15	c.12 others(26): Show c.1251_*1265delACACACACACACACA		SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding					194		chr21	TogoVar
SON_chr21_33538038_33582481	33580463	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01175.hp1 HG02145.hp2 others(1): Show HG01109.hp1 HG01175.hp1 HG02145.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0037 a0001c0001 a0001c0037	a0001c0001t0001 a0001c0037t0001 a0001c0001t0001 a0001c0037t0001	a0001c0001t0001g0021 a0001c0037t0001g0120 a0001c0001t0001g0021 a0001c0037t0001g0120	4	12	0.3333	-15	c.40 others(26): Show c.4040_*4054delAAAAAAAAAAAAAAA		SON	ENSG00000159140.23	transcript	ENST00000356577.10	protein_coding					2983		chr21	TogoVar
SORBS1_chr10_95306773_95566371	95494080	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp1 HG03486.hp1 others(2): Show HG01109.hp2 HG02572.hp1 HG03486.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0003 a0001c0004t0005 a0002c0006t0002 a0001c0004t0003 a0001c0004t0005 a0002c0006t0002	a0001c0004t0003g0019 a0001c0004t0003g0035 a0001c0004t0003g0088 others(2): Show a0001c0004t0003g0019 a0001c0004t0003g0035 a0001c0004t0003g0088 a0001c0004t0005g0092 a0002c0006t0002g0040	5	19	0.2632	-15	c.-13 others(34): Show c.-131-2975_-131-2961delTTTTTTTTTTTTTTT		SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	1/32						chr10	TogoVar
SORBS1_chr10_95306773_95566371	95528918	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp2 HG01168.hp2 others(17): Show HG01081.hp1 HG01081.hp2 HG01168.hp2 HG01243.hp2 HG02735.hp1 HG02965.hp1 HG03831.hp2 HG03942.hp1 HG04228.hp2 NA18946.hp2 NA18955.hp2 NA18962.hp2 NA18985.hp1 NA18993.hp2 NA19004.hp2 NA19009.hp2 NA19043.hp1 NA19070.hp1 NA19081.hp1 NA20752.hp1	a0001 a0003 a0010 a0001 a0003 a0010	a0001c0001 a0001c0003 a0001c0004 others(5): Show a0001c0001 a0001c0003 a0001c0004 a0001c0015 a0003c0005 a0003c0010 a0003c0036 a0010c0035	a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 others(10): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0003t0002 a0001c0004t0003 a0001c0004t0009 a0001c0015t0017 a0003c0005t0003 a0003c0005t0005 a0003c0005t0027 a0003c0010t0001 a0003c0036t0003 a0010c0035t0023	a0001c0001t0003g0300 a0001c0001t0004g0120 a0001c0001t0004g0159 others(17): Show a0001c0001t0003g0300 a0001c0001t0004g0120 a0001c0001t0004g0159 a0001c0001t0004g0248 a0001c0001t0004g0286 a0001c0001t0006g0062 a0001c0003t0002g0002 a0001c0003t0002g0052 a0001c0003t0002g0118 a0001c0004t0003g0289 a0001c0004t0009g0249 a0001c0015t0017g0026 a0001c0015t0017g0077 a0003c0005t0003g0004 a0003c0005t0003g0005 a0003c0005t0005g0298 a0003c0005t0027g0024 a0003c0010t0001g0197 a0003c0036t0003g0025 a0010c0035t0023g0218	20	29	0.6897	-15	c.-13 others(36): Show c.-132+32387_-132+32401delTTTTTTTTTTTTTTT		SORBS1	ENSG00000095637.23	transcript	ENST00000371247.7	protein_coding	1/32						chr10	TogoVar
SORBS2_chr4_185580523_185817194	185593598	GAGCAGAG others(8): Show GAGCAGAGAGGGAGAC	G G	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0123 a0001c0001t0005g0123	1	310	0.0032	-15	c.373 others(32): Show c.3734+273_3734+287delGTCTCCCTCTCTGCT		SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	25/26						chr4	TogoVar
SORBS2_chr4_185580523_185817194	185806434	CTATTTTT others(8): Show CTATTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(152): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03225.hp1 HG03239.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18947.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp2 NA18972.hp1 NA18977.hp1 NA18977.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18991.hp1 NA19003.hp1 NA19003.hp2 NA19010.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp2 NA19085.hp1 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20805.hp2	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0007	a0001c0001 a0001c0002 a0001c0003 others(16): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0015 a0001c0017 a0001c0022 a0001c0026 a0001c0028 a0001c0034 a0001c0037 a0004c0016 a0006c0035 a0007c0033	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(63): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0033 a0001c0001t0040 a0001c0001t0041 a0001c0001t0047 a0001c0001t0055 a0001c0001t0057 a0001c0001t0059 a0001c0001t0061 a0001c0001t0062 a0001c0001t0065 a0001c0001t0066 a0001c0001t0075 a0001c0002t0001 a0001c0002t0002 a0001c0002t0014 a0001c0002t0031 a0001c0002t0045 a0001c0003t0006 a0001c0003t0011 a0001c0004t0005 a0001c0004t0014 a0001c0004t0026 a0001c0005t0010 a0001c0005t0018 a0001c0005t0074 a0001c0007t0007 a0001c0007t0044 a0001c0008t0003 a0001c0010t0029 a0001c0010t0038 a0001c0011t0001 a0001c0011t0003 a0001c0015t0004 a0001c0017t0018 a0001c0022t0007 a0001c0026t0072 a0001c0028t0005 a0001c0034t0006 a0001c0037t0030 a0004c0016t0021 a0006c0035t0002 a0007c0033t0069	a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0058 others(152): Show a0001c0001t0001g0048 a0001c0001t0001g0054 a0001c0001t0001g0058 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0099 a0001c0001t0001g0129 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0153 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0175 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0206 a0001c0001t0002g0053 a0001c0001t0002g0065 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0002g0092 a0001c0001t0002g0109 a0001c0001t0002g0126 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0148 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0167 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0199 a0001c0001t0002g0204 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0214 a0001c0001t0003g0057 a0001c0001t0003g0062 a0001c0001t0003g0110 a0001c0001t0003g0137 a0001c0001t0003g0142 a0001c0001t0003g0144 a0001c0001t0003g0161 a0001c0001t0003g0165 a0001c0001t0003g0176 a0001c0001t0003g0183 a0001c0001t0003g0186 a0001c0001t0003g0187 a0001c0001t0003g0191 a0001c0001t0003g0210 a0001c0001t0004g0074 a0001c0001t0004g0105 a0001c0001t0004g0162 a0001c0001t0004g0203 a0001c0001t0005g0061 a0001c0001t0005g0071 a0001c0001t0005g0158 a0001c0001t0005g0184 a0001c0001t0006g0064 a0001c0001t0006g0128 a0001c0001t0006g0132 a0001c0001t0006g0247 a0001c0001t0006g0248 a0001c0001t0008g0097 a0001c0001t0008g0111 a0001c0001t0008g0166 a0001c0001t0008g0178 a0001c0001t0008g0194 a0001c0001t0008g0201 a0001c0001t0008g0209 a0001c0001t0009g0196 a0001c0001t0010g0027 a0001c0001t0010g0106 a0001c0001t0010g0107 a0001c0001t0011g0032 a0001c0001t0011g0171 a0001c0001t0012g0075 a0001c0001t0012g0133 a0001c0001t0012g0134 a0001c0001t0013g0145 a0001c0001t0013g0146 a0001c0001t0013g0155 a0001c0001t0013g0200 a0001c0001t0014g0029 a0001c0001t0015g0208 a0001c0001t0015g0225 a0001c0001t0016g0198 a0001c0001t0017g0102 a0001c0001t0019g0219 a0001c0001t0020g0223 a0001c0001t0021g0060 a0001c0001t0022g0152 a0001c0001t0023g0063 a0001c0001t0025g0180 a0001c0001t0027g0039 a0001c0001t0028g0168 a0001c0001t0033g0001 a0001c0001t0040g0006 a0001c0001t0041g0007 a0001c0001t0047g0177 a0001c0001t0055g0052 a0001c0001t0057g0035 a0001c0001t0059g0024 a0001c0001t0061g0179 a0001c0001t0062g0127 a0001c0001t0065g0181 a0001c0001t0066g0103 a0001c0001t0075g0076 a0001c0002t0001g0051 a0001c0002t0001g0108 a0001c0002t0001g0190 a0001c0002t0002g0131 a0001c0002t0014g0017 a0001c0002t0031g0033 a0001c0002t0045g0013 a0001c0003t0006g0091 a0001c0003t0011g0169 a0001c0004t0005g0055 a0001c0004t0005g0222 a0001c0004t0014g0037 a0001c0004t0026g0100 a0001c0005t0010g0016 a0001c0005t0018g0056 a0001c0005t0074g0018 a0001c0007t0007g0070 a0001c0007t0044g0012 a0001c0008t0003g0030 a0001c0010t0029g0043 a0001c0010t0038g0008 a0001c0011t0001g0059 a0001c0011t0001g0149 a0001c0011t0003g0147 a0001c0015t0004g0096 a0001c0017t0018g0197 a0001c0022t0007g0193 a0001c0026t0072g0311 a0001c0028t0005g0034 a0001c0034t0006g0101 a0001c0037t0030g0088 a0004c0016t0021g0224 a0004c0016t0021g0226 a0006c0035t0002g0025 a0007c0033t0069g0038	155	159	0.9748	-15	c.-23 others(34): Show c.-237+5215_-237+5229delAAAAAAAAAAAAATA		SORBS2	ENSG00000154556.20	transcript	ENST00000695409.1	protein_coding	1/26						chr4	TogoVar
SORCS1_chr10_106568663_107169706	106598236	ATATTATT others(8): Show ATATTATTATTATTAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02040.hp2 HG00438.hp1 HG02040.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0026 a0001c0001 a0006c0026	a0001c0001t0004 a0006c0026t0001 a0001c0001t0004 a0006c0026t0001	a0001c0001t0004g0101 a0006c0026t0001g0064 a0001c0001t0004g0101 a0006c0026t0001g0064	2	25	0.0800	-15	c.316 others(32): Show c.3166-801_3166-787delATAATAATAATAATA		SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	23/25						chr10	TogoVar
SORCS1_chr10_106568663_107169706	106733111	AAAAAGAA others(8): Show AAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0045 a0001c0002t0002g0045	1	123	0.0081	-15	c.960 others(32): Show c.960-3012_960-2998delCTTTTCTTTTCTTTT		SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	5/25						chr10	TogoVar
SORCS1_chr10_106568663_107169706	106806384	AAAAATAA others(8): Show AAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02559.hp2 HG02723.hp1 others(7): Show HG01891.hp1 HG02559.hp2 HG02723.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp1 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0018 a0001c0019 a0003c0008	a0001c0001t0001 a0001c0001t0020 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0020 a0001c0002t0002 a0001c0003t0001 a0001c0003t0015 a0001c0004t0007 a0001c0018t0001 a0001c0019t0001 a0003c0008t0005	a0001c0001t0001g0055 a0001c0001t0020g0021 a0001c0002t0002g0077 others(7): Show a0001c0001t0001g0055 a0001c0001t0020g0021 a0001c0002t0002g0077 a0001c0003t0001g0056 a0001c0003t0001g0090 a0001c0003t0015g0035 a0001c0004t0007g0046 a0001c0018t0001g0038 a0001c0019t0001g0016 a0003c0008t0005g0092	10	59	0.1695	-15	c.726 others(34): Show c.726+23175_726+23189delATTTTATTTTATTTT		SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	3/25						chr10	TogoVar
SORCS1_chr10_106568663_107169706	106806505	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0112 a0001c0002t0003g0112	1	102	0.0098	-15	c.726 others(34): Show c.726+23054_726+23068delAAAAAAAAAAAAAAA		SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	3/25						chr10	TogoVar
SORCS1_chr10_106568663_107169706	107141585	TAGTCTGT others(8): Show TAGTCTGTGTGTATGC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03453.hp1 HG02896.hp2 HG03453.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0007 a0001c0003t0001 a0001c0004t0007	a0001c0003t0001g0033 a0001c0004t0007g0002 a0001c0003t0001g0033 a0001c0004t0007g0002	2	130	0.0154	-15	c.558 others(34): Show c.558+22369_558+22383delGCATACACACAGACT		SORCS1	ENSG00000108018.17	transcript	ENST00000263054.11	protein_coding	1/25						chr10	TogoVar
SORCS2_chr4_7187538_7747827	7338397	ATGGTTGG others(8): Show ATGGTTGGATGTCGGT	A A	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0011 a0001c0015t0011	a0001c0015t0011g0015 a0001c0015t0011g0015	1	168	0.0060	-15	c.481 others(34): Show c.481-57887_481-57873delTTGGATGTCGGTTGG		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403983	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0048 a0001c0048	a0001c0048t0001 a0001c0048t0001	a0001c0048t0001g0146 a0001c0048t0001g0146	1	153	0.0065	-15	c.548 others(32): Show c.548+7630_548+7644delATATATATATATATT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7403987	ATATATAT others(8): Show ATATATATATATTTTT	A A	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02630.hp1 HG02602.hp1 HG02630.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0013 a0002c0004t0004 a0001c0001t0013 a0002c0004t0004	a0001c0001t0013g0011 a0002c0004t0004g0046 a0001c0001t0013g0011 a0002c0004t0004g0046	2	157	0.0127	-15	c.548 others(32): Show c.548+7634_548+7648delATATATATATTTTTT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7448272	CTCCCACG others(8): Show CTCCCACGTCACCCAG	C C	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0042 a0001c0002t0042	a0001c0002t0042g0050 a0001c0002t0042g0050	1	168	0.0060	-15	c.548 others(34): Show c.548+51919_548+51933delCCCACGTCACCCAGT		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	2/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS2_chr4_7187538_7747827	7650724	CGCCCAGC others(8): Show CGCCCAGCCCAGCCCA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01891.hp1 HG01934.hp1 others(21): Show HG00639.hp2 HG01891.hp1 HG01934.hp1 HG02257.hp1 HG02257.hp2 HG02293.hp1 HG02647.hp1 HG02809.hp1 HG02886.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA19030.hp1 NA19043.hp2 NA20300.hp2 NA20752.hp1	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0005 a0012 a0016	a0001c0001 a0001c0002 a0001c0003 others(13): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0009 a0001c0015 a0001c0038 a0001c0048 a0001c0053 a0003c0012 a0003c0013 a0004c0044 a0005c0020 a0005c0022 a0012c0039 a0016c0040	a0001c0001t0012 a0001c0001t0058 a0001c0002t0039 others(19): Show a0001c0001t0012 a0001c0001t0058 a0001c0002t0039 a0001c0003t0004 a0001c0003t0014 a0001c0003t0015 a0001c0003t0016 a0001c0005t0003 a0001c0005t0005 a0001c0005t0016 a0001c0009t0037 a0001c0015t0011 a0001c0038t0032 a0001c0048t0001 a0001c0053t0001 a0003c0012t0034 a0003c0013t0030 a0004c0044t0041 a0005c0020t0017 a0005c0022t0033 a0012c0039t0049 a0016c0040t0003	a0001c0001t0012g0047 a0001c0001t0012g0137 a0001c0001t0058g0161 others(21): Show a0001c0001t0012g0047 a0001c0001t0012g0137 a0001c0001t0058g0161 a0001c0002t0039g0070 a0001c0003t0004g0088 a0001c0003t0014g0034 a0001c0003t0015g0091 a0001c0003t0016g0023 a0001c0005t0003g0032 a0001c0005t0005g0102 a0001c0005t0016g0104 a0001c0009t0037g0042 a0001c0015t0011g0002 a0001c0015t0011g0015 a0001c0038t0032g0128 a0001c0048t0001g0146 a0001c0053t0001g0044 a0003c0012t0034g0010 a0003c0013t0030g0041 a0004c0044t0041g0016 a0005c0020t0017g0037 a0005c0022t0033g0153 a0012c0039t0049g0064 a0016c0040t0003g0024	24	37	0.6486	-15	c.814 others(32): Show c.814-3371_814-3357delCAGCCCAGCCCAGCC		SORCS2	ENSG00000184985.17	transcript	ENST00000507866.6	protein_coding	4/26					INFO_REALIGN_3_PRIME	chr4	TogoVar
SORCS3_chr10_104636290_105270242	104684779	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01192.hp2 HG01099.hp1 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0056 a0001c0001t0004g0045 a0001c0001t0002g0056 a0001c0001t0004g0045	2	22	0.0909	-15	c.627 others(34): Show c.627+42865_627+42879delTTTTTTTTTTTTTTT		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104696664	ATAATATA others(8): Show ATAATATATAACATAT	A A	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02922.hp1 HG02280.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0007 a0001c0002t0003 a0001c0002t0007	a0001c0002t0003g0059 a0001c0002t0007g0078 a0001c0002t0003g0059 a0001c0002t0007g0078	2	134	0.0149	-15	c.627 others(34): Show c.627+54711_627+54725delTAATATATAACATAT		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26						chr10	TogoVar
SORCS3_chr10_104636290_105270242	104817446	TTCTCCTT others(8): Show TTCTCCTTCTTCCTCC	T T	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0132 a0002c0004t0001g0132	1	111	0.0090	-15	c.628 others(34): Show c.628-25321_628-25307delTCCTCCTCTCCTTCT		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940226	ATATATAT others(8): Show ATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	123	0.0081	-15	c.795 others(34): Show c.795+24296_795+24310delATATATATATATTTT		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940230	ATATATAT others(8): Show ATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01346.hp1 NA18970.hp2 others(1): Show HG01106.hp2 HG01346.hp1 NA18970.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0100 a0001c0001t0002g0095 a0001c0001t0002g0101 others(1): Show a0001c0001t0001g0100 a0001c0001t0002g0095 a0001c0001t0002g0101 a0001c0001t0002g0103	4	129	0.0310	-15	c.795 others(34): Show c.795+24300_795+24314delATATATATTTTTTTT		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104940232	ATATATAT others(8): Show ATATATATTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0112 a0001c0001t0004g0112	1	121	0.0083	-15	c.795 others(34): Show c.795+24302_795+24316delATATATTTTTTTTTT		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SORCS3_chr10_104636290_105270242	104945236	CTGTTTTG others(8): Show CTGTTTTGTTTTGTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01106.hp2 HG01123.hp1 others(20): Show HG00140.hp2 HG01106.hp2 HG01123.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG02738.hp1 HG03130.hp2 HG03688.hp2 HG04204.hp1 NA18941.hp2 NA18943.hp2 NA18970.hp2 NA18988.hp1 NA18995.hp2 NA19012.hp2 NA19043.hp1 NA19079.hp1 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0002t0001 a0001c0002t0003 a0001c0003t0001	a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0100 others(20): Show a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0093 a0001c0001t0002g0095 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0133 a0001c0001t0004g0107 a0001c0001t0004g0112 a0001c0001t0010g0127 a0001c0002t0001g0035 a0001c0002t0001g0102 a0001c0002t0003g0120 a0001c0003t0001g0119	23	114	0.2018	-15	c.795 others(34): Show c.795+29321_795+29335delGTTTTGTTTTGTTTT		SORCS3	ENSG00000156395.14	transcript	ENST00000369701.8	protein_coding	3/26					INFO_REALIGN_3_PRIME	chr10	TogoVar
SOS1_chr2_38976549_39126051	39069190	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0007 a0001c0001t0004g0007	1	25	0.0400	-15	c.88- others(30): Show c.88-1452_88-1438delTTTTTTTTTTTTTTT		SOS1	ENSG00000115904.15	transcript	ENST00000402219.8	protein_coding	1/22						chr2	TogoVar
SOST_chr17_43748738_43763791	43763014	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	47	0.0213	-15	c.-42 others(26): Show c.-4288_-4274delAAAAAAAAAAAAAAA		SOST	ENSG00000167941.3	transcript	ENST00000301691.3	protein_coding					4224		chr17	TogoVar
SOWAHB_chr4_76889152_76903144	76896950	CTGCAGGG others(8): Show CTGCAGGGTCGAATAA	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02735.hp2 HG02735.hp2	a0012 a0012	a0012c0013 a0012c0013	a0012c0013t0002 a0012c0013t0002	a0012c0013t0002g0000 a0012c0013t0002g0000	1	436	0.0023	-15	c.885 others(22): Show c.885_899delTTATTCGACCCTGCA	p.His others(13): Show p.His295_Leu299del	SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding	1/1	1194/3993	885/2382	295/793			chr4	TogoVar
SOWAHB_chr4_76889152_76903144	76900836	TCAAAAAA others(8): Show TCAAAAAAAAAAAAAA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00621.hp1 HG01516.hp2 others(15): Show HG00609.hp2 HG00621.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02027.hp2 HG02165.hp2 HG02273.hp1 HG02738.hp2 HG06807.hp2 NA18747.hp2 NA19076.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0001g0000 a0001c0001t0002g0000	18	436	0.0413	-15	c.-30 others(26): Show c.-3002_-2988delTTTTTTTTTTTTTTG		SOWAHB	ENSG00000186212.4	transcript	ENST00000334306.4	protein_coding					2693		chr4	TogoVar
SOWAHD_chrX_119753588_119765202	119765125	AAAAGGTG others(8): Show AAAAGGTGGATCACCT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	320	0.0031	-15	c.55 others(26): Show c.5511_*5525delAAAGGTGGATCACCT		SOWAHD	ENSG00000187808.5	transcript	ENST00000343905.5	protein_coding					4924		chrX	TogoVar
SOX12_chr20_320552_335224	331885	ACACTCAA others(8): Show ACACTCAAAAGGGAGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0000 a0001c0001t0002g0000	1	398	0.0025	-15	c.50 others(26): Show c.5014_*5028delCACTCAAAAGGGAGG		SOX12	ENSG00000177732.9	transcript	ENST00000342665.5	protein_coding					1662		chr20	TogoVar
SOX2_chr3_181706925_181719436	181715432	GGTTTTTT others(8): Show GGTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	409	0.0024	-15	c.21 others(26): Show c.2119_*2133delGTTTTTTTTTTTTTT		SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding					997		chr3	TogoVar
SOX2_chr3_181706925_181719436	181715433	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp1 HG02895.hp2 HG02897.hp1 others(1): Show HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0000 a0001c0001t0005g0000	4	9	0.4444	-15	c.21 others(26): Show c.2120_*2134delTTTTTTTTTTTTTTT		SOX2	ENSG00000181449.4	transcript	ENST00000325404.3	protein_coding					998		chr3	TogoVar
SOX4_chr6_21588751_21603619	21588964	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02630.hp2 HG02572.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	128	0.0156	-15	c.-55 others(26): Show c.-5570_-5556delTTTTTTTTTTTTTTT		SOX4	ENSG00000124766.7	transcript	ENST00000244745.4	protein_coding					4786		chr6	TogoVar
SOX5_chr12_23524504_23954670	23540361	TATAATAA others(8): Show TATAATAATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00741.hp1 HG01071.hp2 others(24): Show HG00609.hp1 HG00741.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp1 HG01175.hp1 HG01261.hp2 HG01517.hp2 HG01928.hp2 HG01993.hp1 HG02040.hp1 HG02040.hp2 HG02132.hp1 HG02300.hp1 HG02738.hp2 HG02922.hp1 HG03139.hp2 HG03209.hp2 NA18942.hp1 NA18944.hp2 NA18957.hp2 NA18961.hp1 NA18973.hp2 NA19005.hp1 NA19056.hp1 NA19072.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0008 a0001c0001t0009 a0001c0001t0021 others(14): Show a0001c0001t0008 a0001c0001t0009 a0001c0001t0021 a0001c0001t0028 a0001c0001t0034 a0001c0001t0035 a0001c0001t0055 a0001c0001t0056 a0001c0001t0100 a0001c0001t0107 a0001c0001t0109 a0001c0001t0110 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0002t0006	a0001c0001t0008g0035 a0001c0001t0008g0037 a0001c0001t0008g0067 others(24): Show a0001c0001t0008g0035 a0001c0001t0008g0037 a0001c0001t0008g0067 a0001c0001t0008g0076 a0001c0001t0009g0017 a0001c0001t0009g0041 a0001c0001t0009g0053 a0001c0001t0009g0057 a0001c0001t0009g0187 a0001c0001t0021g0129 a0001c0001t0021g0139 a0001c0001t0028g0185 a0001c0001t0028g0203 a0001c0001t0034g0015 a0001c0001t0035g0009 a0001c0001t0035g0018 a0001c0001t0055g0135 a0001c0001t0056g0142 a0001c0001t0100g0096 a0001c0001t0107g0211 a0001c0001t0109g0039 a0001c0001t0110g0056 a0001c0001t0112g0001 a0001c0001t0113g0008 a0001c0001t0114g0119 a0001c0001t0115g0179 a0001c0002t0006g0061	27	76	0.3553	-15	c.177 others(34): Show c.1771+2835_1771+2849delTATTATTATTATTAT		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	13/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23570917	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0025 a0001c0001t0004g0025	1	210	0.0048	-15	c.134 others(34): Show c.1342+4729_1342+4743delATTTTTTTTTTTTTT		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23570919	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0087 a0001c0001t0087	a0001c0001t0087g0188 a0001c0001t0087g0188	1	209	0.0048	-15	c.134 others(34): Show c.1342+4727_1342+4741delATATTTTTTTTTTTT		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23570925	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0161 a0001c0002t0046g0161	1	193	0.0052	-15	c.134 others(34): Show c.1342+4721_1342+4735delATATATATATTTTTT		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23570931	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG03195.hp2 NA21309.hp2 HG01167.hp2 HG03195.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0079 a0001c0001t0116 a0001c0001t0023 a0001c0001t0079 a0001c0001t0116	a0001c0001t0023g0049 a0001c0001t0079g0197 a0001c0001t0116g0123 a0001c0001t0023g0049 a0001c0001t0079g0197 a0001c0001t0116g0123	3	148	0.0203	-15	c.134 others(34): Show c.1342+4715_1342+4729delATATATATATATATA		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	10/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23598387	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00735.hp1 HG00738.hp2 others(35): Show HG00609.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01258.hp2 HG01261.hp1 HG01496.hp1 HG01516.hp1 HG01891.hp2 HG01928.hp2 HG02273.hp1 HG02300.hp2 HG02602.hp2 HG02738.hp1 HG03195.hp2 HG03491.hp2 HG03492.hp1 HG03704.hp1 HG03942.hp1 HG04115.hp2 HG04204.hp2 NA18612.hp1 NA18612.hp2 NA18959.hp2 NA18973.hp1 NA18994.hp1 NA18994.hp2 NA19003.hp2 NA19063.hp2 NA19077.hp2 NA19088.hp1 NA19091.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0045 a0001c0001t0065 a0001c0001t0070 a0001c0001t0073 a0001c0001t0077 a0001c0001t0078 a0001c0001t0089 a0001c0001t0091 a0001c0001t0094 a0001c0001t0098 a0001c0001t0102 a0001c0001t0103 a0001c0001t0106 a0001c0001t0108 a0001c0001t0111 a0001c0001t0116 a0001c0001t0122 a0001c0002t0005 a0001c0002t0006	a0001c0001t0001g0150 a0001c0001t0002g0006 a0001c0001t0008g0035 others(35): Show a0001c0001t0001g0150 a0001c0001t0002g0006 a0001c0001t0008g0035 a0001c0001t0008g0037 a0001c0001t0011g0082 a0001c0001t0011g0144 a0001c0001t0014g0128 a0001c0001t0015g0102 a0001c0001t0015g0174 a0001c0001t0017g0151 a0001c0001t0020g0181 a0001c0001t0023g0026 a0001c0001t0023g0049 a0001c0001t0024g0034 a0001c0001t0029g0027 a0001c0001t0030g0099 a0001c0001t0031g0005 a0001c0001t0032g0141 a0001c0001t0032g0191 a0001c0001t0045g0103 a0001c0001t0065g0033 a0001c0001t0070g0137 a0001c0001t0073g0189 a0001c0001t0077g0052 a0001c0001t0078g0054 a0001c0001t0089g0202 a0001c0001t0091g0178 a0001c0001t0094g0133 a0001c0001t0098g0138 a0001c0001t0102g0016 a0001c0001t0103g0064 a0001c0001t0106g0011 a0001c0001t0108g0050 a0001c0001t0111g0104 a0001c0001t0116g0123 a0001c0001t0122g0069 a0001c0002t0005g0101 a0001c0002t0006g0019	38	133	0.2857	-15	c.116 others(34): Show c.1164+5985_1164+5999delAAAAAAAAAAAAAAA		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	9/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23792622	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02970.hp2 HG03486.hp1 HG02886.hp2 HG02970.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0121 a0001c0001t0001 a0001c0001t0013 a0001c0001t0121	a0001c0001t0001g0155 a0001c0001t0013g0177 a0001c0001t0121g0186 a0001c0001t0001g0155 a0001c0001t0013g0177 a0001c0001t0121g0186	3	16	0.1875	-15	c.482 others(34): Show c.482-36913_482-36899delTTTTTTTTTTTTTTT		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	3/14						chr12	TogoVar
SOX5_chr12_23524504_23954670	23872164	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0040 a0001c0001t0030g0040	1	86	0.0116	-15	c.270 others(34): Show c.270+23614_270+23628delAAAAAAAAAAAAAAA		SOX5	ENSG00000134532.20	transcript	ENST00000451604.7	protein_coding	2/14						chr12	TogoVar
SOX6_chr11_15961449_16361546	16198025	CTGTTGTT others(8): Show CTGTTGTTGTTGTTGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02572.hp2 HG02615.hp2 others(5): Show HG02258.hp2 HG02572.hp2 HG02615.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0015 a0001c0001t0031	a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0003g0005 others(5): Show a0001c0001t0001g0023 a0001c0001t0001g0047 a0001c0001t0003g0005 a0001c0001t0003g0032 a0001c0001t0009g0045 a0001c0001t0015g0044 a0001c0001t0015g0046 a0001c0001t0031g0043	8	16	0.5000	-15	c.536 others(34): Show c.536-11085_536-11071delACAACAACAACAACA		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	4/15						chr11	TogoVar
SOX6_chr11_15961449_16361546	16349700	GGAAGGAA others(8): Show GGAAGGAAGGAAGGAA	G G	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0017 a0001c0002t0017	a0001c0002t0017g0060 a0001c0002t0017g0060	1	215	0.0047	-15	c.-5+ others(30): Show c.-5+6379_-5+6393delTTCCTTCCTTCCTTC		SOX6	ENSG00000110693.19	transcript	ENST00000683767.1	protein_coding	1/15						chr11	TogoVar
SOX8_chr16_976770_991979	988716	TTCCTCAT others(8): Show TTCCTCATTTTCCACG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0013 a0002c0013	a0002c0013t0002 a0002c0013t0002	a0002c0013t0002g0004 a0002c0013t0002g0004	1	432	0.0023	-15	c.33 others(26): Show c.3331_*3345delTCCTCATTTTCCACG		SOX8	ENSG00000005513.11	transcript	ENST00000293894.4	protein_coding					1738		chr16	TogoVar
SP100_chr2_230411201_230550606	230497488	GGAGGAGA others(8): Show GGAGGAGAGGAGAGGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01256.hp1 HG01496.hp2 others(4): Show HG00408.hp2 HG01256.hp1 HG01496.hp2 HG01891.hp2 HG02145.hp1 HG03098.hp2 HG03209.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0002c0005 others(3): Show a0001c0001 a0001c0003 a0002c0005 a0002c0020 a0003c0004 a0005c0013	a0001c0001t0005 a0001c0003t0003 a0002c0005t0013 others(3): Show a0001c0001t0005 a0001c0003t0003 a0002c0005t0013 a0002c0020t0022 a0003c0004t0003 a0005c0013t0024	a0001c0001t0005g0093 a0001c0003t0003g0110 a0002c0005t0013g0128 others(4): Show a0001c0001t0005g0093 a0001c0003t0003g0110 a0002c0005t0013g0128 a0002c0020t0022g0036 a0003c0004t0003g0081 a0003c0004t0003g0222 a0005c0013t0024g0161	7	208	0.0337	-15	c.164 others(32): Show c.1646-927_1646-913delGAGGAGAGGAGAGGA		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497539	GAGGAGAG others(8): Show GAGGAGAGGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0268 a0001c0001t0002g0268	1	226	0.0044	-15	c.164 others(32): Show c.1646-917_1646-903delGAGGAAAGGAAAGGA		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28					INFO_REALIGN_3_PRIME	chr2	TogoVar
SP100_chr2_230411201_230550606	230497544	GAGGAAAG others(8): Show GAGGAAAGGAAAGGAA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02071.hp1 HG02109.hp2 others(7): Show HG01943.hp2 HG02071.hp1 HG02109.hp2 HG02258.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 NA18974.hp2 NA19009.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0005	a0001c0001t0004 a0001c0001t0006 a0001c0003t0012 others(2): Show a0001c0001t0004 a0001c0001t0006 a0001c0003t0012 a0002c0002t0001 a0002c0005t0001	a0001c0001t0004g0050 a0001c0001t0004g0096 a0001c0001t0006g0240 others(7): Show a0001c0001t0004g0050 a0001c0001t0004g0096 a0001c0001t0006g0240 a0001c0003t0012g0046 a0002c0002t0001g0131 a0002c0002t0001g0140 a0002c0002t0001g0242 a0002c0005t0001g0057 a0002c0005t0001g0179 a0002c0005t0001g0201	10	152	0.0658	-15	c.164 others(32): Show c.1646-857_1646-843delAAGGAAAGGAAAGGA		SP100	ENSG00000067066.17	transcript	ENST00000340126.9	protein_coding	18/28					INFO_REALIGN_3_PRIME	chr2	TogoVar

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