Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SLK_chr10_103962140_104034233	103966431	A A	AAAAAAAA others(2): Show AAAAAAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02717.hp2 others(3): Show HG01884.hp1 HG02145.hp2 HG02717.hp2 HG03139.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0023 a0001c0001t0024 a0001c0001t0007 a0001c0001t0023 a0001c0001t0024	a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0001t0007g0107 others(3): Show a0001c0001t0007g0104 a0001c0001t0007g0105 a0001c0001t0007g0107 a0001c0001t0007g0110 a0001c0001t0023g0192 a0001c0001t0024g0026	6	108	0.0556	9	c.-13 others(20): Show c.-1315_-1314insAAAAAAAAG		SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding					708		chr10	TogoVar
SLK_chr10_103962140_104034233	103966431	A A	AAAAAGAA others(2): Show AAAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00621.hp2 HG00673.hp1 others(57): Show HG00280.hp2 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00741.hp2 HG01074.hp2 HG01081.hp1 HG01167.hp1 HG01192.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01891.hp2 HG01952.hp1 HG01975.hp1 HG01993.hp1 HG02165.hp1 HG02293.hp1 HG02300.hp2 HG02738.hp1 HG02922.hp1 HG03195.hp2 HG03239.hp2 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp1 NA18947.hp1 NA18951.hp2 NA18953.hp1 NA18959.hp2 NA18965.hp2 NA18966.hp1 NA18978.hp1 NA18990.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp2 NA19007.hp2 NA19054.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19066.hp2 NA19068.hp1 NA19079.hp1 NA19086.hp1 NA19088.hp2 NA19090.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0015	a0001c0011 a0003c0003 a0003c0012 others(3): Show a0001c0011 a0003c0003 a0003c0012 a0003c0022 a0008c0023 a0015c0021	a0001c0011t0006 a0003c0003t0003 a0003c0003t0010 others(7): Show a0001c0011t0006 a0003c0003t0003 a0003c0003t0010 a0003c0003t0013 a0003c0003t0017 a0003c0003t0018 a0003c0012t0003 a0003c0022t0003 a0008c0023t0003 a0015c0021t0003	a0001c0011t0006g0174 a0001c0011t0006g0175 a0003c0003t0003g0001 others(42): Show a0001c0011t0006g0174 a0001c0011t0006g0175 a0003c0003t0003g0001 a0003c0003t0003g0002 a0003c0003t0003g0005 a0003c0003t0003g0012 a0003c0003t0003g0015 a0003c0003t0003g0016 a0003c0003t0003g0017 a0003c0003t0003g0126 a0003c0003t0003g0127 a0003c0003t0003g0128 a0003c0003t0003g0148 a0003c0003t0003g0156 a0003c0003t0003g0159 a0003c0003t0003g0161 a0003c0003t0003g0162 a0003c0003t0003g0163 a0003c0003t0003g0164 a0003c0003t0003g0165 a0003c0003t0003g0168 a0003c0003t0003g0169 a0003c0003t0003g0170 a0003c0003t0003g0173 a0003c0003t0003g0176 a0003c0003t0003g0177 a0003c0003t0003g0179 a0003c0003t0003g0181 a0003c0003t0003g0185 a0003c0003t0003g0186 a0003c0003t0003g0187 a0003c0003t0003g0189 a0003c0003t0003g0196 a0003c0003t0010g0012 a0003c0003t0010g0013 a0003c0003t0010g0014 a0003c0003t0013g0184 a0003c0003t0013g0188 a0003c0003t0017g0160 a0003c0003t0018g0158 a0003c0012t0003g0157 a0003c0012t0003g0180 a0003c0022t0003g0167 a0008c0023t0003g0001 a0015c0021t0003g0178	60	162	0.3704	9	c.-13 others(20): Show c.-1315_-1314insAAAAGAAAG		SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding					708		chr10	TogoVar
SLK_chr10_103962140_104034233	103974614	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01071.hp2 HG02559.hp2 others(6): Show HG00673.hp2 HG01071.hp2 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02970.hp2 HG03041.hp2 HG03453.hp1 NA19240.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0008 a0004c0005t0005 a0001c0001t0001 a0001c0001t0008 a0004c0005t0005	a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0285 others(5): Show a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0008g0325 a0004c0005t0005g0018 a0004c0005t0005g0207 a0004c0005t0005g0208	9	48	0.1875	9	c.150 others(26): Show c.150+6737_150+6745dupAAAAAAAAA		SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr10	TogoVar
SLK_chr10_103962140_104034233	103989464	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp1 HG02897.hp1 others(3): Show HG02647.hp2 HG02896.hp1 HG02897.hp1 HG03130.hp1 HG03471.hp2 HG06807.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0010 a0002c0002t0005g0149 a0002c0002t0005g0150 others(2): Show a0002c0002t0005g0010 a0002c0002t0005g0149 a0002c0002t0005g0150 a0002c0002t0005g0199 a0002c0002t0005g0201	6	23	0.2609	9	c.151 others(26): Show c.151-1198_151-1190dupTTTTTTTTT		SLK	ENSG00000065613.15	transcript	ENST00000369755.4	protein_coding	1/18					INFO_REALIGN_3_PRIME	chr10	TogoVar
SLMAP_chr3_57751309_57935003	57774509	A A	AATTATTA others(2): Show AATTATTATT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02809.hp2 HG02886.hp1 others(1): Show HG02451.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0010 a0001c0001t0003 a0001c0001t0010	a0001c0001t0003g0167 a0001c0001t0010g0301 a0001c0001t0010g0302 others(1): Show a0001c0001t0003g0167 a0001c0001t0010g0301 a0001c0001t0010g0302 a0001c0001t0010g0303	4	32	0.1250	9	c.198 others(28): Show c.198+16685_198+16693dupATTATTATT		SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG01978.hp2 others(10): Show HG00438.hp2 HG00621.hp2 HG01978.hp2 HG02486.hp2 HG02523.hp1 HG03209.hp2 HG04204.hp2 NA18940.hp2 NA18950.hp2 NA18989.hp2 NA18994.hp2 NA19000.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0001 a0001c0002t0008	a0001c0001t0001g0122 a0001c0001t0001g0289 a0001c0002t0001g0212 others(10): Show a0001c0001t0001g0122 a0001c0001t0001g0289 a0001c0002t0001g0212 a0001c0002t0001g0215 a0001c0002t0001g0224 a0001c0002t0001g0226 a0001c0002t0001g0235 a0001c0002t0001g0244 a0001c0002t0001g0276 a0001c0002t0001g0278 a0001c0002t0001g0296 a0001c0002t0008g0269 a0001c0002t0008g0277	13	132	0.0985	9	c.150 others(28): Show c.1502-1560_1502-1552dupTTTTTTTTT		SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24					INFO_REALIGN_3_PRIME	chr3	TogoVar
SLX9_chr21_44935029_44981973	44941008	G G	GCTTTTGA others(2): Show GCTTTTGAAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(128): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00621.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG03017.hp2 HG03130.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03704.hp1 HG03834.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18943.hp2 NA18949.hp2 NA18952.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp2 NA18964.hp2 NA18971.hp1 NA18973.hp2 NA18980.hp2 NA18981.hp2 NA18990.hp2 NA18999.hp2 NA19000.hp1 NA19004.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19030.hp2 NA19065.hp2 NA19066.hp1 NA19072.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19084.hp2 NA19090.hp1 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0006	a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 others(2): Show a0001c0001t0001 a0002c0002t0001 a0003c0003t0001 a0004c0004t0001 a0005c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0032 others(95): Show a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0199 a0001c0001t0001g0222 a0002c0002t0001g0003 a0002c0002t0001g0200 a0002c0002t0001g0201 a0002c0002t0001g0202 a0002c0002t0001g0203 a0002c0002t0001g0204 a0002c0002t0001g0205 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0208 a0002c0002t0001g0209 a0002c0002t0001g0210 a0002c0002t0001g0211 a0002c0002t0001g0224 a0002c0002t0001g0225 a0002c0002t0001g0226 a0002c0002t0001g0227 a0002c0002t0001g0228 a0003c0003t0001g0017 a0003c0003t0001g0140 a0003c0003t0001g0178 a0003c0003t0001g0212 a0003c0003t0001g0213 a0003c0003t0001g0214 a0004c0004t0001g0018 a0004c0004t0001g0043 a0004c0004t0001g0215 a0004c0004t0001g0216 a0004c0004t0001g0217 a0004c0004t0001g0218 a0004c0004t0001g0219 a0004c0004t0001g0220 a0004c0004t0001g0221 a0004c0004t0001g0223 a0005c0006t0001g0135	131	332	0.3946	9	c.129 others(24): Show c.129+827_129+835dupTGAACCTTT		SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr21	TogoVar
SMAD2_chr18_47803957_47935659	47813711	A A	ATTTTTTT others(2): Show ATTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00423.hp1 HG00438.hp1 HG00558.hp1 others(53): Show HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00642.hp2 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01123.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01981.hp2 HG02015.hp1 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02165.hp2 HG02273.hp2 HG02280.hp2 HG02523.hp1 HG02602.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03239.hp1 HG03471.hp1 HG03490.hp1 HG03491.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04228.hp2 HG06807.hp2 NA18945.hp1 NA18949.hp1 NA18950.hp2 NA18970.hp2 NA18971.hp2 NA18979.hp2 NA18981.hp2 NA18984.hp1 NA18989.hp1 NA18990.hp2 NA19004.hp1 NA19009.hp2 NA19043.hp1 NA19056.hp2 NA19057.hp1 NA19066.hp1 NA20805.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 others(37): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0038 a0001c0001t0045 a0001c0001t0064 a0001c0001t0073 a0001c0001t0074 a0001c0001t0076 a0001c0001t0077 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0001c0001t0091 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0102 a0001c0001t0104 a0001c0001t0123 a0001c0001t0127 a0001c0001t0128 a0001c0001t0134 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0158 a0001c0001t0173 a0001c0001t0203 a0001c0001t0244	a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0204 others(53): Show a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0001t0001g0204 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0006g0210 a0001c0001t0006g0223 a0001c0001t0006g0232 a0001c0001t0017g0199 a0001c0001t0017g0289 a0001c0001t0018g0176 a0001c0001t0018g0272 a0001c0001t0019g0116 a0001c0001t0019g0284 a0001c0001t0020g0220 a0001c0001t0020g0233 a0001c0001t0038g0264 a0001c0001t0045g0248 a0001c0001t0064g0121 a0001c0001t0073g0290 a0001c0001t0074g0285 a0001c0001t0076g0281 a0001c0001t0077g0282 a0001c0001t0083g0274 a0001c0001t0084g0219 a0001c0001t0086g0257 a0001c0001t0088g0198 a0001c0001t0089g0243 a0001c0001t0091g0297 a0001c0001t0095g0250 a0001c0001t0096g0288 a0001c0001t0097g0247 a0001c0001t0102g0277 a0001c0001t0104g0117 a0001c0001t0123g0301 a0001c0001t0127g0224 a0001c0001t0128g0235 a0001c0001t0134g0259 a0001c0001t0138g0188 a0001c0001t0139g0009 a0001c0001t0140g0291 a0001c0001t0141g0244 a0001c0001t0142g0245 a0001c0001t0144g0287 a0001c0001t0145g0242 a0001c0001t0146g0278 a0001c0001t0158g0143 a0001c0001t0173g0283 a0001c0001t0203g0061 a0001c0001t0244g0008	56	61	0.9180	9	c.28 others(22): Show c.28107_*28115dupAAAAAAAAA		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11				28115		chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850451	T T	TTATATAT others(2): Show TTATATATAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01257.hp1 HG01261.hp2 others(21): Show HG01109.hp1 HG01257.hp1 HG01261.hp2 HG01928.hp1 HG02056.hp2 HG02155.hp1 HG02293.hp2 HG02300.hp1 HG04115.hp2 HG04228.hp1 NA18943.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp1 NA18974.hp2 NA18979.hp1 NA18986.hp1 NA18989.hp2 NA19003.hp1 NA19007.hp1 NA19009.hp1 NA19065.hp1 NA19068.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 others(18): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0026 a0001c0001t0027 a0001c0001t0036 a0001c0001t0152 a0001c0001t0154 a0001c0001t0159 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0167 a0001c0001t0170 a0001c0001t0172 a0001c0001t0175 a0001c0001t0176 a0001c0001t0178 a0001c0001t0179	a0001c0001t0003g0148 a0001c0001t0003g0169 a0001c0001t0004g0126 others(21): Show a0001c0001t0003g0148 a0001c0001t0003g0169 a0001c0001t0004g0126 a0001c0001t0004g0159 a0001c0001t0007g0134 a0001c0001t0026g0136 a0001c0001t0026g0163 a0001c0001t0027g0002 a0001c0001t0036g0003 a0001c0001t0152g0146 a0001c0001t0154g0170 a0001c0001t0159g0138 a0001c0001t0161g0154 a0001c0001t0162g0156 a0001c0001t0163g0168 a0001c0001t0164g0160 a0001c0001t0165g0139 a0001c0001t0167g0149 a0001c0001t0170g0171 a0001c0001t0172g0161 a0001c0001t0175g0167 a0001c0001t0176g0144 a0001c0001t0178g0137 a0001c0001t0179g0162	24	298	0.0805	9	c.784 others(24): Show c.784+822_784+823insTTATATATA		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850462	A A	ATATATTA others(2): Show ATATATTATG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01978.hp1 HG02055.hp1 others(10): Show HG01069.hp2 HG01978.hp1 HG02055.hp1 HG02280.hp2 HG02293.hp1 HG02647.hp2 HG02895.hp1 HG02897.hp2 NA18981.hp1 NA19009.hp2 NA19043.hp1 NA19060.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0021 a0001c0001t0025 a0001c0001t0089 a0001c0001t0093 a0001c0001t0136 a0001c0001t0148 a0001c0001t0237	a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0004g0131 others(10): Show a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0004g0131 a0001c0001t0004g0151 a0001c0001t0006g0223 a0001c0001t0021g0205 a0001c0001t0025g0189 a0001c0001t0025g0190 a0001c0001t0089g0243 a0001c0001t0093g0280 a0001c0001t0136g0206 a0001c0001t0148g0191 a0001c0001t0237g0123	13	155	0.0839	9	c.784 others(24): Show c.784+811_784+812insCATAATATA		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850787	T T	TTATATAT others(2): Show TTATATATTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG03471.hp1 others(1): Show HG02258.hp2 HG02486.hp2 HG03471.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0072 a0001c0001t0123 a0001c0001t0182 others(1): Show a0001c0001t0072 a0001c0001t0123 a0001c0001t0182 a0001c0001t0183	a0001c0001t0072g0216 a0001c0001t0123g0301 a0001c0001t0182g0214 others(1): Show a0001c0001t0072g0216 a0001c0001t0123g0301 a0001c0001t0182g0214 a0001c0001t0183g0213	4	201	0.0199	9	c.784 others(24): Show c.784+478_784+486dupTAATATATA		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850849	T T	TTATATAT others(2): Show TTATATATTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(161): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp2 HG02155.hp1 HG02165.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG03130.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp2 NA18997.hp1 NA18999.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19080.hp2 NA19088.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(126): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0036 a0001c0001t0038 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0069 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0103 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0117 a0001c0001t0118 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0135 a0001c0001t0136 a0001c0001t0138 a0001c0001t0140 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0166 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0001c0001t0174 a0001c0001t0175 a0001c0001t0176 a0001c0001t0177 a0001c0001t0178 a0001c0001t0179 a0001c0001t0181 a0001c0001t0237 a0001c0001t0245 a0001c0001t0247	a0001c0001t0001g0197 a0001c0001t0001g0252 a0001c0001t0001g0258 others(160): Show a0001c0001t0001g0197 a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0003g0140 a0001c0001t0003g0142 a0001c0001t0003g0148 a0001c0001t0003g0150 a0001c0001t0003g0166 a0001c0001t0003g0169 a0001c0001t0004g0126 a0001c0001t0004g0131 a0001c0001t0004g0151 a0001c0001t0004g0159 a0001c0001t0005g0262 a0001c0001t0005g0269 a0001c0001t0005g0286 a0001c0001t0006g0210 a0001c0001t0006g0223 a0001c0001t0007g0134 a0001c0001t0007g0135 a0001c0001t0007g0152 a0001c0001t0008g0125 a0001c0001t0008g0147 a0001c0001t0008g0164 a0001c0001t0013g0221 a0001c0001t0013g0229 a0001c0001t0015g0246 a0001c0001t0015g0268 a0001c0001t0016g0266 a0001c0001t0016g0292 a0001c0001t0017g0199 a0001c0001t0017g0289 a0001c0001t0018g0176 a0001c0001t0018g0272 a0001c0001t0019g0116 a0001c0001t0019g0284 a0001c0001t0020g0220 a0001c0001t0021g0205 a0001c0001t0022g0208 a0001c0001t0022g0271 a0001c0001t0023g0202 a0001c0001t0023g0207 a0001c0001t0024g0182 a0001c0001t0024g0186 a0001c0001t0025g0189 a0001c0001t0025g0190 a0001c0001t0026g0136 a0001c0001t0026g0163 a0001c0001t0027g0002 a0001c0001t0036g0003 a0001c0001t0038g0264 a0001c0001t0049g0251 a0001c0001t0050g0241 a0001c0001t0051g0194 a0001c0001t0052g0217 a0001c0001t0061g0212 a0001c0001t0062g0209 a0001c0001t0063g0294 a0001c0001t0069g0293 a0001c0001t0072g0216 a0001c0001t0073g0290 a0001c0001t0074g0285 a0001c0001t0075g0086 a0001c0001t0076g0281 a0001c0001t0077g0282 a0001c0001t0078g0256 a0001c0001t0079g0237 a0001c0001t0081g0270 a0001c0001t0082g0260 a0001c0001t0083g0274 a0001c0001t0084g0219 a0001c0001t0085g0240 a0001c0001t0086g0257 a0001c0001t0087g0196 a0001c0001t0088g0198 a0001c0001t0089g0243 a0001c0001t0090g0263 a0001c0001t0091g0297 a0001c0001t0092g0201 a0001c0001t0093g0280 a0001c0001t0094g0261 a0001c0001t0096g0288 a0001c0001t0097g0247 a0001c0001t0098g0279 a0001c0001t0099g0238 a0001c0001t0100g0295 a0001c0001t0101g0177 a0001c0001t0102g0277 a0001c0001t0103g0255 a0001c0001t0104g0117 a0001c0001t0105g0211 a0001c0001t0106g0236 a0001c0001t0107g0227 a0001c0001t0108g0239 a0001c0001t0110g0253 a0001c0001t0111g0226 a0001c0001t0112g0005 a0001c0001t0113g0175 a0001c0001t0114g0228 a0001c0001t0117g0215 a0001c0001t0118g0298 a0001c0001t0120g0192 a0001c0001t0121g0225 a0001c0001t0122g0218 a0001c0001t0123g0301 a0001c0001t0125g0230 a0001c0001t0126g0231 a0001c0001t0127g0224 a0001c0001t0128g0235 a0001c0001t0129g0203 a0001c0001t0130g0178 a0001c0001t0131g0183 a0001c0001t0132g0179 a0001c0001t0133g0187 a0001c0001t0135g0267 a0001c0001t0136g0206 a0001c0001t0138g0188 a0001c0001t0140g0291 a0001c0001t0143g0200 a0001c0001t0144g0287 a0001c0001t0145g0242 a0001c0001t0148g0191 a0001c0001t0149g0132 a0001c0001t0150g0129 a0001c0001t0151g0124 a0001c0001t0152g0146 a0001c0001t0153g0157 a0001c0001t0154g0170 a0001c0001t0155g0141 a0001c0001t0156g0153 a0001c0001t0157g0128 a0001c0001t0158g0143 a0001c0001t0159g0138 a0001c0001t0160g0158 a0001c0001t0161g0154 a0001c0001t0162g0156 a0001c0001t0163g0168 a0001c0001t0164g0160 a0001c0001t0165g0139 a0001c0001t0166g0155 a0001c0001t0167g0149 a0001c0001t0168g0130 a0001c0001t0169g0133 a0001c0001t0170g0171 a0001c0001t0171g0172 a0001c0001t0172g0161 a0001c0001t0173g0283 a0001c0001t0174g0145 a0001c0001t0175g0167 a0001c0001t0176g0144 a0001c0001t0177g0165 a0001c0001t0178g0137 a0001c0001t0179g0162 a0001c0001t0181g0097 a0001c0001t0237g0123 a0001c0001t0245g0127 a0001c0001t0247g0308	164	256	0.6406	9	c.784 others(24): Show c.784+424_784+425insTAATATATA		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02293.hp1 HG03139.hp1 others(5): Show HG02055.hp2 HG02293.hp1 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03516.hp2 NA18943.hp2 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0021 a0001c0001t0067 a0001c0001t0068 others(5): Show a0001c0001t0021 a0001c0001t0067 a0001c0001t0068 a0001c0001t0129 a0001c0001t0143 a0001c0001t0244 a0001c0002t0056 a0001c0002t0057	a0001c0001t0021g0205 a0001c0001t0067g0119 a0001c0001t0068g0122 others(5): Show a0001c0001t0021g0205 a0001c0001t0067g0119 a0001c0001t0068g0122 a0001c0001t0129g0203 a0001c0001t0143g0200 a0001c0001t0244g0008 a0001c0002t0056g0303 a0001c0002t0057g0304	8	47	0.1702	9	c.237 others(28): Show c.237-11486_237-11478dupAAAAAAAAA		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10						chr18	TogoVar
SMAD3_chr15_67060602_67200169	67112154	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG00673.hp1 others(27): Show HG00438.hp1 HG00621.hp2 HG00673.hp1 HG01516.hp1 HG01516.hp2 HG02040.hp2 HG02074.hp1 HG02155.hp1 HG02896.hp1 HG02897.hp1 HG03041.hp2 HG03471.hp1 HG04115.hp2 NA18612.hp1 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18947.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18967.hp2 NA18989.hp2 NA18991.hp1 NA19060.hp1 NA19062.hp1 NA19074.hp1 NA19083.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0013 a0001c0001t0024 a0001c0001t0039 a0001c0001t0054 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006	a0001c0001t0001g0088 a0001c0001t0001g0134 a0001c0001t0001g0178 others(27): Show a0001c0001t0001g0088 a0001c0001t0001g0134 a0001c0001t0001g0178 a0001c0001t0001g0246 a0001c0001t0001g0269 a0001c0001t0002g0206 a0001c0001t0002g0237 a0001c0001t0002g0260 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0175 a0001c0001t0003g0254 a0001c0001t0003g0255 a0001c0001t0003g0261 a0001c0001t0005g0015 a0001c0001t0005g0037 a0001c0001t0005g0060 a0001c0001t0006g0050 a0001c0001t0007g0189 a0001c0001t0008g0044 a0001c0001t0008g0046 a0001c0001t0008g0047 a0001c0001t0013g0090 a0001c0001t0024g0141 a0001c0001t0039g0012 a0001c0001t0054g0163 a0001c0002t0003g0184 a0001c0002t0003g0185 a0001c0002t0005g0059 a0001c0002t0006g0016	30	40	0.7500	9	c.206 others(28): Show c.206+45798_206+45806dupTTTTTTTTT		SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD9_chr13_36839831_36925238	36861552	G G	GCAGAACT others(2): Show GCAGAACTCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02055.hp1 others(6): Show HG01109.hp1 HG01243.hp1 HG02055.hp1 HG02486.hp1 HG02717.hp2 HG02818.hp1 HG02895.hp2 HG03453.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0012 a0001c0001t0033 a0001c0001t0055 others(1): Show a0001c0001t0012 a0001c0001t0033 a0001c0001t0055 a0001c0006t0012	a0001c0001t0012g0172 a0001c0001t0012g0181 a0001c0001t0012g0186 others(6): Show a0001c0001t0012g0172 a0001c0001t0012g0181 a0001c0001t0012g0186 a0001c0001t0012g0189 a0001c0001t0012g0212 a0001c0001t0012g0214 a0001c0001t0033g0176 a0001c0001t0055g0220 a0001c0006t0012g0215	9	356	0.0253	9	c.100 others(28): Show c.1003+3984_1003+3985insAGAGTTCTG		SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	5/6						chr13	TogoVar
SMAP1_chr6_70662883_70867003	70680102	T T	TCAACAAC others(2): Show TCAACAACAA	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03704.hp1 HG03942.hp2 others(5): Show HG02818.hp1 HG03704.hp1 HG03942.hp2 NA19005.hp2 NA19043.hp2 NA19057.hp2 NA19086.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0014 a0001c0001t0001 a0001c0001t0014	a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0133 others(5): Show a0001c0001t0001g0126 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0189 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0221 a0001c0001t0014g0121	8	182	0.0440	9	c.118 others(28): Show c.118+11988_118+11996dupACAACAACA		SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCA1_chrX_129441506_129528490	129504549	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01243.hp1 HG02257.hp2 others(3): Show HG01081.hp1 HG01243.hp1 HG02257.hp2 HG02630.hp2 HG03486.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0082 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0090	6	82	0.0732	9	c.116 others(26): Show c.1167+176_1167+184dupTTTTTTTTT		SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	9/24						chrX	TogoVar
SMARCA2_chr9_2010347_2198620	2039776	A A	ACAGCAGC others(2): Show ACAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02723.hp2 HG02735.hp2 HG04184.hp1 others(2): Show HG02723.hp2 HG02735.hp2 HG04184.hp1 HG06807.hp2 NA18906.hp1	a0007 a0007	a0007c0015 a0007c0064 a0007c0015 a0007c0064	a0007c0015t0001 a0007c0015t0002 a0007c0064t0002 a0007c0015t0001 a0007c0015t0002 a0007c0064t0002	a0007c0015t0001g0183 a0007c0015t0001g0237 a0007c0015t0002g0275 others(2): Show a0007c0015t0001g0183 a0007c0015t0001g0237 a0007c0015t0002g0275 a0007c0015t0002g0286 a0007c0064t0002g0260	5	188	0.0266	9	c.699 others(16): Show c.699_707dupGCAGCAGCA	p.Gln others(13): Show p.Gln234_Gln236dup	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	4/34	802/5748	708/4773	236/1590		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	10960674	G G	GCCGCCGC others(2): Show GCCGCCGCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00558.hp1 others(88): Show HG00099.hp1 HG00438.hp1 HG00558.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01257.hp2 HG01261.hp2 HG01515.hp2 HG01516.hp1 HG01884.hp2 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp2 HG02040.hp2 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp1 HG02145.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02698.hp1 HG02738.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03453.hp1 HG03490.hp1 HG03669.hp1 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp2 NA18953.hp1 NA18957.hp1 NA18961.hp1 NA18964.hp2 NA18966.hp2 NA18967.hp1 NA18980.hp1 NA18983.hp2 NA18985.hp1 NA19000.hp2 NA19002.hp1 NA19007.hp2 NA19009.hp2 NA19030.hp2 NA19057.hp1 NA19058.hp2 NA19079.hp2 NA19081.hp2 NA19084.hp2 NA19087.hp2 NA19089.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0014 a0001c0016 a0001c0020 a0001c0022 a0001c0026 a0001c0030 a0001c0032	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0005t0001 a0001c0006t0001 a0001c0008t0001 a0001c0011t0001 a0001c0014t0001 a0001c0016t0001 a0001c0020t0001 a0001c0022t0001 a0001c0026t0001 a0001c0030t0001 a0001c0032t0001	a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 others(88): Show a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0275 a0001c0001t0001g0280 a0001c0002t0001g0172 a0001c0002t0001g0174 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0213 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0223 a0001c0002t0001g0226 a0001c0002t0001g0229 a0001c0002t0001g0232 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0257 a0001c0002t0001g0261 a0001c0002t0001g0263 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0279 a0001c0003t0001g0203 a0001c0003t0001g0204 a0001c0003t0001g0206 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0217 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0227 a0001c0003t0001g0237 a0001c0003t0001g0241 a0001c0003t0001g0244 a0001c0003t0001g0246 a0001c0003t0001g0248 a0001c0003t0001g0249 a0001c0003t0001g0253 a0001c0003t0001g0258 a0001c0003t0001g0259 a0001c0003t0001g0260 a0001c0005t0001g0242 a0001c0005t0001g0243 a0001c0005t0001g0256 a0001c0005t0001g0262 a0001c0006t0001g0267 a0001c0006t0001g0270 a0001c0006t0001g0271 a0001c0006t0001g0272 a0001c0008t0001g0266 a0001c0008t0001g0268 a0001c0008t0001g0269 a0001c0011t0001g0276 a0001c0011t0001g0277 a0001c0011t0001g0278 a0001c0014t0001g0233 a0001c0014t0001g0235 a0001c0016t0001g0228 a0001c0016t0001g0230 a0001c0020t0001g0234 a0001c0022t0001g0201 a0001c0026t0001g0281 a0001c0030t0001g0212 a0001c0032t0001g0231	91	284	0.3204	9	c.-53 others(18): Show c.-532_-531insCCGCCGCCA		SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding					355		chr19	TogoVar
SMARCB1_chr22_23781966_23843009	23833043	C C	CAAGTGTG others(2): Show CAAGTGTGTG	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18940.hp1 NA18947.hp1 others(6): Show HG00280.hp2 NA18940.hp1 NA18947.hp1 NA18961.hp2 NA18969.hp1 NA18978.hp1 NA19007.hp2 NA19087.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0045 a0001c0001t0004 a0001c0001t0045	a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0055 others(6): Show a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0067 a0001c0001t0004g0071 a0001c0001t0045g0064	9	361	0.0249	9	c.987 others(24): Show c.987-528_987-520dupAAGTGTGTG		SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47604699	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01123.hp2 HG02145.hp1 others(13): Show HG00738.hp1 HG01123.hp2 HG02145.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp1 HG02698.hp2 HG02738.hp2 HG03491.hp1 HG03491.hp2 HG03834.hp1 HG04204.hp2 NA18955.hp1 NA18967.hp2 NA18972.hp1 NA18997.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0060 a0001c0001t0001g0084 a0001c0001t0001g0100 others(13): Show a0001c0001t0001g0060 a0001c0001t0001g0084 a0001c0001t0001g0100 a0001c0001t0001g0128 a0001c0001t0001g0181 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0209 a0001c0001t0001g0213 a0001c0001t0002g0139 a0001c0001t0003g0045 a0001c0002t0002g0091 a0001c0002t0002g0117 a0001c0002t0002g0149 a0002c0003t0001g0207	16	36	0.4444	9	c.304 others(28): Show c.3043+5358_3043+5366dupAAAAAAAAA		SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	26/27						chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47642592	A A	AAACAACA others(2): Show AAACAACAAC	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18956.hp2 NA18999.hp2 NA18946.hp2 NA18956.hp2 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0183 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0183	3	119	0.0252	9	c.232 others(28): Show c.2321-3821_2321-3813dupGTTGTTGTT		SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	21/27						chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47671184	A A	ACAAACAA others(2): Show ACAAACAAAC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02922.hp1 HG02145.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0180 a0001c0001t0001g0181	2	218	0.0092	9	c.184 others(26): Show c.1840-468_1840-467insGTTTGTTTG		SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27						chr3	TogoVar
SMARCD1_chr12_50080342_50105707	50086481	G G	GGTGGTGG others(2): Show GGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02630.hp1 others(10): Show HG01109.hp1 HG02109.hp1 HG02630.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp2 NA18522.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0095 others(8): Show a0001c0001t0001g0028 a0001c0001t0001g0041 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0147 a0001c0001t0002g0028	13	364	0.0357	9	c.366 others(24): Show c.366-132_366-131insAGTGGTGGT		SMARCD1	ENSG00000066117.15	transcript	ENST00000394963.9	protein_coding	2/12					INFO_REALIGN_3_PRIME	chr12	TogoVar
SMC1B_chr22_45339063_45418599	45386573	A A	AAACAACA others(2): Show AAACAACAAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02622.hp2 HG02970.hp2 others(3): Show HG01175.hp1 HG02622.hp2 HG02970.hp2 HG02976.hp1 HG03098.hp1 HG03540.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0023 a0004c0005t0001g0186 a0004c0005t0001g0187 others(3): Show a0004c0005t0001g0023 a0004c0005t0001g0186 a0004c0005t0001g0187 a0004c0005t0001g0188 a0004c0005t0001g0189 a0004c0005t0001g0190	6	158	0.0380	9	c.191 others(26): Show c.1911+285_1911+293dupGTTGTTGTT		SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	11/24						chr22	TogoVar
SMC2_chr9_104089309_104146419	104134593	T T	TATATTAT others(2): Show TATATTATAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00323.hp2 others(160): Show HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp2 HG02055.hp2 HG02071.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp2 NA18951.hp2 NA18954.hp2 NA18959.hp2 NA18961.hp2 NA18965.hp1 NA18966.hp1 NA18973.hp1 NA18973.hp2 NA18986.hp1 NA18995.hp1 NA18998.hp2 NA19004.hp2 NA19010.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19066.hp1 NA19074.hp1 NA19076.hp2 NA19078.hp2 NA19086.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0003 a0001c0007 others(6): Show a0001c0001 a0001c0003 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0002c0005 a0003c0004 a0005c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0015 a0001c0001t0018 a0001c0001t0026 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0003t0003 a0001c0003t0007 a0001c0003t0012 a0001c0003t0016 a0001c0003t0027 a0001c0007t0002 a0001c0008t0014 a0001c0010t0001 a0001c0011t0004 a0002c0005t0001 a0003c0004t0008 a0003c0004t0024 a0005c0006t0011	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(103): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0002g0123 a0001c0001t0004g0007 a0001c0001t0004g0026 a0001c0001t0004g0027 a0001c0001t0004g0061 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0116 a0001c0001t0006g0010 a0001c0001t0006g0095 a0001c0001t0006g0101 a0001c0001t0006g0110 a0001c0001t0015g0025 a0001c0001t0018g0159 a0001c0001t0026g0014 a0001c0001t0029g0105 a0001c0001t0030g0092 a0001c0001t0031g0084 a0001c0001t0032g0007 a0001c0001t0033g0062 a0001c0001t0034g0003 a0001c0001t0035g0102 a0001c0001t0036g0067 a0001c0003t0003g0006 a0001c0003t0003g0013 a0001c0003t0003g0022 a0001c0003t0003g0023 a0001c0003t0003g0037 a0001c0003t0003g0051 a0001c0003t0003g0052 a0001c0003t0003g0053 a0001c0003t0003g0054 a0001c0003t0003g0055 a0001c0003t0007g0043 a0001c0003t0007g0044 a0001c0003t0007g0045 a0001c0003t0007g0046 a0001c0003t0007g0047 a0001c0003t0012g0048 a0001c0003t0012g0050 a0001c0003t0016g0049 a0001c0003t0027g0056 a0001c0007t0002g0041 a0001c0007t0002g0042 a0001c0008t0014g0114 a0001c0008t0014g0115 a0001c0010t0001g0113 a0001c0011t0004g0063 a0002c0005t0001g0015 a0002c0005t0001g0106 a0003c0004t0008g0024 a0003c0004t0008g0040 a0003c0004t0024g0073 a0005c0006t0011g0038 a0005c0006t0011g0039	163	276	0.5906	9	c.326 others(24): Show c.3269+19_3269+27dupATATTATAA		SMC2	ENSG00000136824.19	transcript	ENST00000374793.8	protein_coding	23/24					INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC5_chr9_70253978_70359873	70359065	A A	AATTATTA others(2): Show AATTATTATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG01081.hp2 others(21): Show HG00099.hp1 HG00609.hp1 HG01081.hp2 HG01361.hp1 HG01496.hp2 HG01978.hp2 HG02109.hp1 HG02145.hp1 HG02895.hp1 HG02897.hp1 HG03195.hp2 HG03209.hp1 HG04115.hp1 HG06807.hp2 NA18522.hp1 NA18940.hp2 NA18954.hp2 NA18969.hp1 NA18986.hp2 NA19012.hp1 NA19043.hp1 NA19058.hp1 NA19085.hp1 NA20805.hp1	a0003 a0006 a0014 a0003 a0006 a0014	a0003c0003 a0006c0011 a0014c0018 a0003c0003 a0006c0011 a0014c0018	a0003c0003t0001 a0003c0003t0008 a0006c0011t0009 others(1): Show a0003c0003t0001 a0003c0003t0008 a0006c0011t0009 a0014c0018t0001	a0003c0003t0001g0004 a0003c0003t0001g0013 a0003c0003t0001g0014 others(17): Show a0003c0003t0001g0004 a0003c0003t0001g0013 a0003c0003t0001g0014 a0003c0003t0001g0119 a0003c0003t0001g0151 a0003c0003t0001g0158 a0003c0003t0001g0163 a0003c0003t0001g0167 a0003c0003t0001g0170 a0003c0003t0001g0172 a0003c0003t0001g0178 a0003c0003t0001g0179 a0003c0003t0001g0186 a0003c0003t0001g0191 a0003c0003t0001g0197 a0003c0003t0008g0171 a0003c0003t0008g0194 a0006c0011t0009g0303 a0006c0011t0009g0304 a0014c0018t0001g0192	24	34	0.7059	9	c.67 others(20): Show c.6734_*6735insATTATTATT		SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding					4193		chr9	TogoVar
SMC6_chr2_17658812_17758810	17726087	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG01074.hp1 others(11): Show HG00639.hp2 HG01071.hp2 HG01074.hp1 HG01243.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02809.hp1 HG02976.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03471.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0205 others(11): Show a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0217 a0001c0001t0002g0219 a0001c0001t0002g0226 a0001c0001t0002g0228 a0001c0001t0002g0229 a0002c0003t0001g0135 a0002c0003t0001g0137	14	84	0.1667	9	c.624 others(24): Show c.624+293_624+301dupTTTTTTTTT		SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	8/27						chr2	TogoVar
SMCHD1_chr18_2650726_2810017	2702308	A A	AAAAAAAA others(2): Show AAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01516.hp2 others(5): Show HG00323.hp2 HG01070.hp1 HG01516.hp2 NA18945.hp1 NA18953.hp1 NA18994.hp1 NA18994.hp2 NA19058.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0006 a0003c0003 others(1): Show a0001c0004 a0002c0006 a0003c0003 a0003c0011	a0001c0004t0003 a0002c0006t0001 a0003c0003t0003 others(1): Show a0001c0004t0003 a0002c0006t0001 a0003c0003t0003 a0003c0011t0003	a0001c0004t0003g0106 a0002c0006t0001g0055 a0003c0003t0003g0093 others(5): Show a0001c0004t0003g0106 a0002c0006t0001g0055 a0003c0003t0003g0093 a0003c0003t0003g0101 a0003c0003t0003g0105 a0003c0003t0003g0134 a0003c0003t0003g0151 a0003c0011t0003g0252	8	156	0.0513	9	c.164 others(28): Show c.1648-1384_1648-1383insAAAAAAAAG		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	12/47						chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708908	A A	ATATATAT others(2): Show ATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01258.hp2 others(6): Show HG01168.hp1 HG01169.hp1 HG01258.hp2 HG02109.hp2 HG02559.hp2 HG02886.hp2 HG03831.hp2 NA18952.hp2 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0001 a0001c0002t0002 a0001c0012t0001 a0001c0002t0001 a0001c0002t0002 a0001c0012t0001	a0001c0002t0001g0158 a0001c0002t0001g0166 a0001c0002t0001g0186 others(6): Show a0001c0002t0001g0158 a0001c0002t0001g0166 a0001c0002t0001g0186 a0001c0002t0001g0187 a0001c0002t0001g0191 a0001c0002t0001g0199 a0001c0002t0002g0165 a0001c0002t0002g0172 a0001c0012t0001g0255	9	298	0.0302	9	c.226 others(26): Show c.2260+988_2260+989insTATATATAT		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47						chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2748387	T T	TATGTATA others(2): Show TATGTATATA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03041.hp1 HG04184.hp1 others(3): Show HG01891.hp1 HG03041.hp1 HG04184.hp1 NA18957.hp1 NA19064.hp1 NA19086.hp2	a0002 a0003 a0011 a0002 a0003 a0011	a0002c0016 a0003c0003 a0011c0024 a0002c0016 a0003c0003 a0011c0024	a0002c0016t0002 a0003c0003t0003 a0011c0024t0029 a0002c0016t0002 a0003c0003t0003 a0011c0024t0029	a0002c0016t0002g0004 a0003c0003t0003g0076 a0003c0003t0003g0079 others(3): Show a0002c0016t0002g0004 a0003c0003t0003g0076 a0003c0003t0003g0079 a0003c0003t0003g0135 a0003c0003t0003g0145 a0011c0024t0029g0232	6	335	0.0179	9	c.392 others(26): Show c.3927+741_3927+742insTGTATATAA		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	30/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2759571	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01175.hp1 HG01255.hp1 others(30): Show HG01109.hp2 HG01175.hp1 HG01255.hp1 HG01884.hp1 HG02145.hp2 HG02155.hp2 HG02451.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG04184.hp1 HG06807.hp2 NA18953.hp2 NA19000.hp2 NA19002.hp1 NA19030.hp1 NA19086.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0005 a0001c0007 a0002c0001 others(3): Show a0001c0005 a0001c0007 a0002c0001 a0003c0003 a0004c0008 a0005c0014	a0001c0005t0002 a0001c0005t0004 a0001c0005t0010 others(8): Show a0001c0005t0002 a0001c0005t0004 a0001c0005t0010 a0001c0005t0018 a0001c0007t0010 a0002c0001t0002 a0002c0001t0026 a0003c0003t0003 a0004c0008t0002 a0004c0008t0036 a0005c0014t0003	a0001c0005t0002g0266 a0001c0005t0004g0023 a0001c0005t0004g0024 others(30): Show a0001c0005t0002g0266 a0001c0005t0004g0023 a0001c0005t0004g0024 a0001c0005t0004g0025 a0001c0005t0004g0026 a0001c0005t0004g0027 a0001c0005t0004g0028 a0001c0005t0004g0029 a0001c0005t0004g0030 a0001c0005t0004g0032 a0001c0005t0004g0034 a0001c0005t0004g0241 a0001c0005t0004g0242 a0001c0005t0004g0243 a0001c0005t0004g0244 a0001c0005t0004g0245 a0001c0005t0004g0246 a0001c0005t0004g0247 a0001c0005t0010g0033 a0001c0005t0018g0031 a0001c0007t0010g0228 a0001c0007t0010g0229 a0002c0001t0002g0329 a0002c0001t0026g0307 a0003c0003t0003g0040 a0003c0003t0003g0061 a0003c0003t0003g0079 a0003c0003t0003g0083 a0003c0003t0003g0135 a0003c0003t0003g0142 a0004c0008t0002g0002 a0004c0008t0036g0226 a0005c0014t0003g0086	33	52	0.6346	9	c.434 others(28): Show c.4347-1073_4347-1065dupTTTTTTTTT		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	34/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2785670	A A	AAAAAAAA others(2): Show AAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01081.hp2 HG01258.hp2 others(9): Show HG00738.hp1 HG01081.hp2 HG01258.hp2 HG01433.hp2 HG01978.hp2 HG02148.hp2 HG02738.hp1 HG03516.hp1 HG03704.hp2 HG03831.hp2 HG04199.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0161 a0001c0002t0001g0162 others(9): Show a0001c0002t0001g0036 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0166 a0001c0002t0001g0183 a0001c0002t0001g0185 a0001c0002t0001g0191 a0001c0002t0001g0195 a0001c0002t0001g0198 a0001c0002t0001g0204 a0001c0002t0001g0335 a0001c0002t0001g0336	12	20	0.6000	9	c.571 others(28): Show c.5719+1050_5719+1051insAAAAAAAGA		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	45/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2793656	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG01978.hp1 others(11): Show HG00741.hp2 HG01261.hp2 HG01978.hp1 HG02109.hp2 HG02145.hp1 HG02165.hp2 HG02486.hp2 HG02735.hp1 HG02738.hp1 HG03471.hp2 HG03831.hp2 HG04199.hp1 NA18972.hp2 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0012 a0001c0002 a0001c0004 a0001c0012	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0012t0001	a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0163 others(11): Show a0001c0002t0001g0157 a0001c0002t0001g0161 a0001c0002t0001g0163 a0001c0002t0001g0164 a0001c0002t0001g0166 a0001c0002t0001g0168 a0001c0002t0001g0192 a0001c0002t0001g0199 a0001c0002t0001g0202 a0001c0002t0002g0167 a0001c0002t0002g0170 a0001c0002t0002g0174 a0001c0004t0001g0210 a0001c0012t0001g0270	14	226	0.0619	9	c.572 others(28): Show c.5720-2286_5720-2278dupAAAAAAAAA		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	45/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO2_chr12_27441736_27507185	27494487	T T	TTTATTAT others(2): Show TTTATTATTA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00639.hp1 HG00639.hp2 others(50): Show HG00609.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00738.hp1 HG00738.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01361.hp1 HG01884.hp2 HG01934.hp2 HG01981.hp2 HG02055.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02451.hp1 HG02615.hp2 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp2 NA18949.hp2 NA18951.hp1 NA18980.hp1 NA18985.hp1 NA18995.hp1 NA18998.hp2 NA19004.hp2 NA19055.hp1 NA19085.hp1 NA20129.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0003 others(1): Show a0001c0001 a0002c0002 a0002c0003 a0002c0007	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0003t0004 a0002c0007t0001	a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 others(45): Show a0001c0001t0001g0024 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0094 a0001c0001t0001g0159 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0203 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0262 a0001c0001t0002g0018 a0001c0001t0002g0058 a0001c0001t0002g0067 a0001c0001t0002g0082 a0001c0001t0002g0084 a0001c0001t0002g0095 a0001c0001t0002g0103 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0285 a0001c0001t0002g0289 a0002c0002t0001g0041 a0002c0002t0001g0047 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0003g0287 a0002c0002t0004g0264 a0002c0002t0004g0265 a0002c0002t0004g0272 a0002c0002t0004g0273 a0002c0003t0004g0258 a0002c0007t0001g0274 a0002c0007t0001g0275	53	93	0.5699	9	c.657 others(24): Show c.657+160_657+168dupTATTATTAT		SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr12	TogoVar
SMG1_chr16_18799860_18931408	18887510	T T	TTTTCCTT others(2): Show TTTTCCTTTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01358.hp2 HG02451.hp1 others(8): Show HG00323.hp1 HG01358.hp2 HG02451.hp1 HG02486.hp2 HG02615.hp2 HG02895.hp2 HG02965.hp1 HG03139.hp1 HG03195.hp2 HG03453.hp2 HG03688.hp1	a0001 a0010 a0001 a0010	a0001c0004 a0010c0019 a0001c0004 a0010c0019	a0001c0004t0004 a0010c0019t0004 a0001c0004t0004 a0010c0019t0004	a0001c0004t0004g0014 a0001c0004t0004g0015 a0001c0004t0004g0016 others(8): Show a0001c0004t0004g0014 a0001c0004t0004g0015 a0001c0004t0004g0016 a0001c0004t0004g0017 a0001c0004t0004g0018 a0001c0004t0004g0019 a0001c0004t0004g0020 a0001c0004t0004g0022 a0001c0004t0004g0024 a0001c0004t0004g0026 a0010c0019t0004g0023	11	298	0.0369	9	c.823 others(26): Show c.823-1845_823-1844insCAAAGGAAA		SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	6/62						chr16	TogoVar
SMG8_chr17_59205035_59220230	59215369	G G	GTTTTTTT others(2): Show GTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01168.hp2 HG01255.hp1 others(12): Show HG00741.hp2 HG01168.hp2 HG01255.hp1 HG01255.hp2 HG01361.hp2 HG01433.hp2 HG01515.hp2 HG02280.hp1 HG02280.hp2 HG02559.hp1 HG02895.hp2 HG03041.hp1 HG03139.hp2 HG03239.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	15	19	0.7895	9	c.36 others(18): Show c.367_*368insTTTTTTTTT		SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding					140		chr17	TogoVar
SMG9_chr19_43722983_43759962	43752902	T T	TAAAAAAA others(2): Show TAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02723.hp2 HG02886.hp1 others(4): Show HG02258.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG02976.hp1 NA19030.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0054 a0001c0001t0005 a0001c0001t0011 a0001c0001t0054	a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0011g0104 others(4): Show a0001c0001t0005g0107 a0001c0001t0005g0108 a0001c0001t0011g0104 a0001c0001t0011g0105 a0001c0001t0011g0106 a0001c0001t0011g0109 a0001c0001t0054g0110	7	204	0.0343	9	c.-7+ others(24): Show c.-7+1743_-7+1751dupTTTTTTTTT		SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding	1/13						chr19	TogoVar
SMIM10L1_chr12_11166194_11181016	11177472	T T	TGGCGGGG others(2): Show TGGCGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01243.hp2 HG02109.hp1 others(9): Show HG01109.hp1 HG01243.hp2 HG02109.hp1 HG02155.hp2 HG03927.hp2 NA18940.hp1 NA18945.hp1 NA18970.hp1 NA18970.hp2 NA19067.hp1 NA19078.hp2 NA19087.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 others(2): Show a0001c0002t0003 a0001c0002t0005 a0001c0002t0008 a0001c0002t0010 a0001c0002t0011	a0001c0002t0003g0000 a0001c0002t0005g0000 a0001c0002t0008g0000 others(2): Show a0001c0002t0003g0000 a0001c0002t0005g0000 a0001c0002t0008g0000 a0001c0002t0010g0000 a0001c0002t0011g0000	12	259	0.0463	9	c.59 others(20): Show c.5909_*5910insGGCGGGGGG		SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding					1457		chr12	TogoVar
SMIM12_chr1_34845362_34864749	34853985	A A	AAACAACA others(2): Show AAACAACAAC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01257.hp2 HG02015.hp1 HG02027.hp2 others(27): Show HG01257.hp2 HG02015.hp1 HG02027.hp2 HG02056.hp2 HG02132.hp2 HG03654.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18966.hp2 NA18972.hp2 NA18973.hp1 NA18979.hp1 NA18982.hp2 NA18994.hp1 NA19003.hp1 NA19009.hp1 NA19011.hp1 NA19055.hp1 NA19064.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp2 NA19084.hp2 NA19086.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 others(15): Show a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0029 a0001c0001t0030 a0001c0001t0051 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0082 a0001c0001t0083	a0001c0001t0008g0007 a0001c0001t0013g0015 a0001c0001t0013g0088 others(16): Show a0001c0001t0008g0007 a0001c0001t0013g0015 a0001c0001t0013g0088 a0001c0001t0014g0012 a0001c0001t0029g0024 a0001c0001t0030g0025 a0001c0001t0051g0066 a0001c0001t0054g0069 a0001c0001t0055g0070 a0001c0001t0056g0071 a0001c0001t0057g0072 a0001c0001t0058g0073 a0001c0001t0059g0074 a0001c0001t0060g0089 a0001c0001t0061g0075 a0001c0001t0062g0076 a0001c0001t0063g0077 a0001c0001t0082g0119 a0001c0001t0083g0100	30	178	0.1685	9	c.17 others(20): Show c.1705_*1713dupGTTGTTGTT		SMIM12	ENSG00000163866.9	transcript	ENST00000521580.3	protein_coding	2/2				1713		chr1	TogoVar
SMIM13_chr6_11088834_11143733	11138999	A A	ATTTAACT others(2): Show ATTTAACTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG03098.hp1 HG03710.hp1 HG00735.hp1 HG03098.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0028 a0001c0001t0029 a0001c0002t0027 a0001c0001t0028 a0001c0001t0029 a0001c0002t0027	a0001c0001t0028g0176 a0001c0001t0029g0177 a0001c0002t0027g0249 a0001c0001t0028g0176 a0001c0001t0029g0177 a0001c0002t0027g0249	3	398	0.0075	9	c.43 others(20): Show c.4397_*4398insTTTAACTTT		SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding					267		chr6	TogoVar
SMIM14_chr4_39541336_39643865	39581518	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00544.hp1 others(55): Show HG00099.hp2 HG00408.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00738.hp1 HG01106.hp1 HG01123.hp1 HG01175.hp2 HG01255.hp1 HG01257.hp1 HG01361.hp1 HG01928.hp1 HG01943.hp2 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02056.hp1 HG02071.hp2 HG02132.hp1 HG02148.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02300.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp2 HG02970.hp2 HG03017.hp2 HG03239.hp1 HG03490.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 NA18747.hp1 NA18961.hp2 NA18963.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18980.hp1 NA18985.hp1 NA19011.hp2 NA19012.hp1 NA19058.hp1 NA19068.hp1 NA19070.hp1 NA19080.hp1 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0014 others(9): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0014 a0001c0001t0015 a0001c0001t0021 a0001c0001t0027 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0047	a0001c0001t0002g0004 a0001c0001t0002g0022 a0001c0001t0002g0025 others(55): Show a0001c0001t0002g0004 a0001c0001t0002g0022 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0073 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0087 a0001c0001t0002g0128 a0001c0001t0002g0149 a0001c0001t0002g0165 a0001c0001t0002g0200 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0260 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0286 a0001c0001t0002g0327 a0001c0001t0002g0328 a0001c0001t0009g0024 a0001c0001t0009g0060 a0001c0001t0009g0061 a0001c0001t0009g0068 a0001c0001t0009g0071 a0001c0001t0009g0080 a0001c0001t0009g0173 a0001c0001t0009g0241 a0001c0001t0014g0027 a0001c0001t0015g0050 a0001c0001t0015g0062 a0001c0001t0015g0076 a0001c0001t0021g0005 a0001c0001t0021g0074 a0001c0001t0027g0235 a0001c0001t0036g0072 a0001c0001t0038g0178 a0001c0001t0039g0023 a0001c0001t0040g0085 a0001c0001t0041g0021 a0001c0001t0047g0069	58	319	0.1818	9	c.76- others(24): Show c.76-9064_76-9056dupAAAAAAAAA		SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4						chr4	TogoVar
SMIM17_chr19_56638159_56662247	56659734	C C	CTTTTTTT others(2): Show CTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00609.hp2 others(6): Show HG00408.hp1 HG00544.hp2 HG00609.hp2 HG02015.hp2 HG02132.hp1 HG02135.hp2 HG02809.hp1 NA18979.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0004g0173 a0001c0001t0001g0001 a0001c0001t0004g0002 a0001c0001t0004g0173	9	208	0.0433	9	c.45 others(20): Show c.4521_*4522insTTTTTTTTT		SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding					2488		chr19	TogoVar
SMIM2_chr13_44138150_44166257	44154558	A A	ACACACTC others(2): Show ACACACTCTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp1 HG02818.hp2 others(4): Show HG02257.hp1 HG02451.hp1 HG02818.hp2 HG02922.hp1 HG03139.hp2 NA18950.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	7	37	0.1892	9	c.253 others(26): Show c.253+6044_253+6045insAAGAGTGTG		SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding	2/2						chr13	TogoVar
SMIM31_chr4_164749131_164808795	164758801	A A	ATTTTTTT others(2): Show ATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG00673.hp1 others(23): Show HG00558.hp1 HG00597.hp1 HG00673.hp1 HG01106.hp1 HG01106.hp2 HG01256.hp1 HG01257.hp2 HG01346.hp1 HG01891.hp1 HG02074.hp1 HG02109.hp2 HG02273.hp2 HG02683.hp2 HG02738.hp2 HG03453.hp1 HG03688.hp1 HG03927.hp2 HG06807.hp2 NA18948.hp1 NA18955.hp1 NA18960.hp1 NA18961.hp1 NA18966.hp1 NA19077.hp2 NA19080.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0010 a0001c0001t0012 a0001c0001t0023 a0001c0001t0033	a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0060 others(23): Show a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0084 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0002g0062 a0001c0001t0002g0123 a0001c0001t0003g0003 a0001c0001t0003g0017 a0001c0001t0003g0038 a0001c0001t0003g0103 a0001c0001t0004g0036 a0001c0001t0004g0059 a0001c0001t0010g0102 a0001c0001t0010g0108 a0001c0001t0012g0104 a0001c0001t0023g0100 a0001c0001t0033g0139	26	35	0.7429	9	c.-26 others(26): Show c.-26+4422_-26+4430dupTTTTTTTTT		SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164768427	C C	CAAAAAAA others(2): Show CAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00280.hp2 others(84): Show HG00099.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00438.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp2 HG01123.hp2 HG01167.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02071.hp1 HG02080.hp1 HG02258.hp2 HG02273.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02683.hp1 HG02738.hp1 HG03098.hp1 HG03239.hp1 HG03453.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp1 HG03669.hp2 HG03834.hp1 HG03942.hp2 HG04204.hp2 NA18747.hp1 NA18940.hp1 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18969.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp1 NA18992.hp2 NA18994.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19060.hp1 NA19066.hp1 NA19075.hp2 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19084.hp1 NA19087.hp2 NA19090.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0010 a0001c0001t0017 a0001c0001t0019 a0001c0001t0025 a0001c0001t0031 a0001c0004t0003	a0001c0001t0001g0264 a0001c0001t0001g0279 a0001c0001t0001g0287 others(84): Show a0001c0001t0001g0264 a0001c0001t0001g0279 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0314 a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0328 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0355 a0001c0001t0002g0240 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0286 a0001c0001t0002g0291 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0331 a0001c0001t0002g0334 a0001c0001t0002g0338 a0001c0001t0002g0341 a0001c0001t0002g0347 a0001c0001t0002g0350 a0001c0001t0002g0354 a0001c0001t0002g0356 a0001c0001t0002g0357 a0001c0001t0002g0359 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0003g0147 a0001c0001t0003g0289 a0001c0001t0003g0293 a0001c0001t0003g0295 a0001c0001t0003g0300 a0001c0001t0003g0311 a0001c0001t0003g0324 a0001c0001t0003g0329 a0001c0001t0003g0343 a0001c0001t0003g0344 a0001c0001t0004g0205 a0001c0001t0004g0281 a0001c0001t0004g0285 a0001c0001t0004g0292 a0001c0001t0004g0299 a0001c0001t0004g0301 a0001c0001t0004g0318 a0001c0001t0004g0330 a0001c0001t0004g0332 a0001c0001t0004g0336 a0001c0001t0004g0340 a0001c0001t0004g0342 a0001c0001t0004g0348 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0004g0358 a0001c0001t0004g0360 a0001c0001t0005g0280 a0001c0001t0005g0306 a0001c0001t0005g0333 a0001c0001t0005g0345 a0001c0001t0005g0346 a0001c0001t0005g0361 a0001c0001t0008g0278 a0001c0001t0010g0108 a0001c0001t0010g0109 a0001c0001t0010g0313 a0001c0001t0017g0204 a0001c0001t0019g0242 a0001c0001t0019g0266 a0001c0001t0025g0237 a0001c0001t0031g0327 a0001c0004t0003g0320	87	259	0.3359	9	c.-25 others(26): Show c.-25-1984_-25-1976dupAAAAAAAAA		SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM35_chr11_117998634_118091963	118027016	C C	CTTTTTTT others(2): Show CTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA18999.hp1 NA19009.hp1 others(3): Show NA18946.hp2 NA18999.hp1 NA19009.hp1 NA19011.hp2 NA19058.hp1 NA19080.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0002 a0002c0002t0005	a0002c0002t0002g0149 a0002c0002t0002g0305 a0002c0002t0005g0371 others(3): Show a0002c0002t0002g0149 a0002c0002t0002g0305 a0002c0002t0005g0371 a0002c0002t0005g0374 a0002c0002t0005g0388 a0002c0002t0005g0391	6	101	0.0594	9	c.8-1 others(24): Show c.8-11216_8-11208dupAAAAAAAAA		SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4						chr11	TogoVar
SMIM36_chr17_55444856_55516452	55500948	A A	ATTTTATA others(2): Show ATTTTATAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG03139.hp1 HG02055.hp2 HG02559.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0010g0151 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0010g0151	3	253	0.0119	9	c.17 others(28): Show c.174+9930_*174+9931insATTATAAAA		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SMIM36_chr17_55444856_55516452	55500977	A A	ATTTTATA others(2): Show ATTTTATAAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02559.hp2 HG03139.hp1 HG02055.hp2 HG02559.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0010 a0001c0001t0004 a0001c0001t0010	a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0010g0151 a0001c0001t0004g0150 a0001c0001t0004g0152 a0001c0001t0010g0151	3	218	0.0138	9	c.17 others(28): Show c.174+9901_*174+9902insATTATAAAA		SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4						chr17	TogoVar
SMIM43_chr4_121753930_121770164	121769649	A A	ATGCATGT others(2): Show ATGCATGTGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00639.hp2 HG00733.hp2 others(30): Show HG00140.hp2 HG00639.hp2 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01361.hp2 HG01891.hp1 HG02109.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03041.hp1 HG03098.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp1 HG03704.hp1 HG04184.hp1 HG04184.hp2 NA19043.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0011 a0001c0001t0021 a0001c0001t0003 a0001c0001t0011 a0001c0001t0021	a0001c0001t0003g0003 a0001c0001t0003g0054 a0001c0001t0003g0058 others(2): Show a0001c0001t0003g0003 a0001c0001t0003g0054 a0001c0001t0003g0058 a0001c0001t0011g0059 a0001c0001t0021g0035	33	436	0.0757	9	c.-45 others(20): Show c.-4545_-4544insGCACATGCA		SMIM43	ENSG00000164112.14	transcript	ENST00000643802.2	protein_coding					4486		chr4	TogoVar

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