Joint Open Genome and Omics Platform (JoGo)

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Snpeff genename

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Snpeff annotation impact

Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMAD9_chr13_36839831_36925238	36845110	GTGTGTA GTGTGTA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00597.hp1 others(88): Show HG00140.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01358.hp2 HG01361.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG02055.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02717.hp1 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03834.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp1 NA18978.hp2 NA18980.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19068.hp1 NA19072.hp2 NA19075.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(31): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0034 a0001c0001t0038 a0001c0001t0046 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0053 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0077 a0001c0001t0080 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0089 a0001c0001t0096 a0001c0001t0101 a0001c0006t0028 a0001c0007t0003	a0001c0001t0003g0001 a0001c0001t0003g0097 a0001c0001t0003g0105 others(87): Show a0001c0001t0003g0001 a0001c0001t0003g0097 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0003g0126 a0001c0001t0003g0140 a0001c0001t0003g0151 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0190 a0001c0001t0003g0194 a0001c0001t0003g0203 a0001c0001t0007g0016 a0001c0001t0007g0024 a0001c0001t0007g0026 a0001c0001t0007g0028 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0042 a0001c0001t0007g0051 a0001c0001t0007g0053 a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0067 a0001c0001t0007g0079 a0001c0001t0007g0083 a0001c0001t0007g0084 a0001c0001t0008g0232 a0001c0001t0008g0264 a0001c0001t0008g0266 a0001c0001t0008g0288 a0001c0001t0008g0297 a0001c0001t0008g0332 a0001c0001t0008g0345 a0001c0001t0008g0346 a0001c0001t0008g0347 a0001c0001t0008g0348 a0001c0001t0011g0136 a0001c0001t0011g0138 a0001c0001t0011g0164 a0001c0001t0011g0169 a0001c0001t0011g0172 a0001c0001t0011g0173 a0001c0001t0011g0187 a0001c0001t0025g0015 a0001c0001t0025g0019 a0001c0001t0025g0086 a0001c0001t0027g0176 a0001c0001t0027g0181 a0001c0001t0027g0184 a0001c0001t0028g0207 a0001c0001t0028g0209 a0001c0001t0029g0205 a0001c0001t0029g0206 a0001c0001t0029g0212 a0001c0001t0034g0246 a0001c0001t0034g0299 a0001c0001t0034g0304 a0001c0001t0038g0050 a0001c0001t0038g0073 a0001c0001t0046g0004 a0001c0001t0047g0008 a0001c0001t0049g0012 a0001c0001t0051g0010 a0001c0001t0053g0082 a0001c0001t0056g0085 a0001c0001t0057g0076 a0001c0001t0059g0087 a0001c0001t0060g0091 a0001c0001t0070g0153 a0001c0001t0071g0132 a0001c0001t0072g0112 a0001c0001t0073g0199 a0001c0001t0074g0168 a0001c0001t0077g0215 a0001c0001t0080g0216 a0001c0001t0082g0218 a0001c0001t0084g0225 a0001c0001t0085g0223 a0001c0001t0089g0309 a0001c0001t0096g0276 a0001c0001t0101g0351 a0001c0006t0028g0210 a0001c0007t0003g0111	91	358	0.2542	-6	c.35 others(17): Show c.3560_*3565delTACACA	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	7/7	3560		chr13	TogoVar
SMAD9_chr13_36839831_36925238	36845112	GTGTATA GTGTATA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02717.hp2 HG03098.hp1 HG03130.hp2 others(1): Show HG02717.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0075 a0001c0001t0099 a0001c0001t0042 a0001c0001t0075 a0001c0001t0099	a0001c0001t0042g0171 a0001c0001t0042g0204 a0001c0001t0075g0162 others(1): Show a0001c0001t0042g0171 a0001c0001t0042g0204 a0001c0001t0075g0162 a0001c0001t0099g0334	4	358	0.0112	-6	c.35 others(17): Show c.3558_*3563delTATACA	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	7/7	3558		chr13	TogoVar
SMAD9_chr13_36839831_36925238	36845499	AAATGTT AAATGTT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00597.hp1 others(99): Show HG00140.hp2 HG00423.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00735.hp1 HG00738.hp1 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01358.hp2 HG01361.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp1 HG01975.hp2 HG02055.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02155.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03139.hp1 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03540.hp1 HG03579.hp2 HG03834.hp1 HG04184.hp2 HG04204.hp1 HG06807.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp2 NA18968.hp1 NA18969.hp1 NA18978.hp2 NA18980.hp1 NA18988.hp1 NA18992.hp2 NA18994.hp1 NA18998.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp1 NA19063.hp1 NA19065.hp2 NA19068.hp1 NA19072.hp2 NA19075.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19090.hp2 NA19091.hp1 NA19240.hp1 NA20300.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0001c0007	a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 others(37): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0033 a0001c0001t0034 a0001c0001t0038 a0001c0001t0047 a0001c0001t0049 a0001c0001t0051 a0001c0001t0053 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0060 a0001c0001t0065 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0077 a0001c0001t0080 a0001c0001t0082 a0001c0001t0084 a0001c0001t0085 a0001c0001t0086 a0001c0001t0089 a0001c0001t0090 a0001c0001t0096 a0001c0001t0097 a0001c0001t0101 a0001c0004t0100 a0001c0006t0028 a0001c0007t0003	a0001c0001t0003g0001 a0001c0001t0003g0097 a0001c0001t0003g0105 others(98): Show a0001c0001t0003g0001 a0001c0001t0003g0097 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0107 a0001c0001t0003g0108 a0001c0001t0003g0109 a0001c0001t0003g0113 a0001c0001t0003g0114 a0001c0001t0003g0121 a0001c0001t0003g0126 a0001c0001t0003g0140 a0001c0001t0003g0151 a0001c0001t0003g0157 a0001c0001t0003g0158 a0001c0001t0003g0190 a0001c0001t0003g0194 a0001c0001t0003g0203 a0001c0001t0007g0016 a0001c0001t0007g0024 a0001c0001t0007g0026 a0001c0001t0007g0028 a0001c0001t0007g0036 a0001c0001t0007g0037 a0001c0001t0007g0042 a0001c0001t0007g0051 a0001c0001t0007g0053 a0001c0001t0007g0061 a0001c0001t0007g0062 a0001c0001t0007g0067 a0001c0001t0007g0079 a0001c0001t0007g0083 a0001c0001t0007g0084 a0001c0001t0008g0232 a0001c0001t0008g0264 a0001c0001t0008g0266 a0001c0001t0008g0288 a0001c0001t0008g0297 a0001c0001t0008g0332 a0001c0001t0008g0345 a0001c0001t0008g0346 a0001c0001t0008g0347 a0001c0001t0008g0348 a0001c0001t0011g0136 a0001c0001t0011g0138 a0001c0001t0011g0164 a0001c0001t0011g0169 a0001c0001t0011g0172 a0001c0001t0011g0173 a0001c0001t0011g0187 a0001c0001t0022g0156 a0001c0001t0022g0163 a0001c0001t0022g0174 a0001c0001t0022g0175 a0001c0001t0025g0015 a0001c0001t0025g0019 a0001c0001t0025g0086 a0001c0001t0027g0176 a0001c0001t0027g0181 a0001c0001t0027g0184 a0001c0001t0028g0207 a0001c0001t0028g0209 a0001c0001t0029g0205 a0001c0001t0029g0206 a0001c0001t0029g0212 a0001c0001t0033g0254 a0001c0001t0033g0338 a0001c0001t0033g0339 a0001c0001t0034g0246 a0001c0001t0034g0299 a0001c0001t0034g0304 a0001c0001t0038g0050 a0001c0001t0038g0073 a0001c0001t0047g0008 a0001c0001t0049g0012 a0001c0001t0051g0010 a0001c0001t0053g0082 a0001c0001t0055g0039 a0001c0001t0056g0085 a0001c0001t0057g0076 a0001c0001t0059g0087 a0001c0001t0060g0091 a0001c0001t0065g0177 a0001c0001t0070g0153 a0001c0001t0071g0132 a0001c0001t0072g0112 a0001c0001t0073g0199 a0001c0001t0077g0215 a0001c0001t0080g0216 a0001c0001t0082g0218 a0001c0001t0084g0225 a0001c0001t0085g0223 a0001c0001t0086g0268 a0001c0001t0089g0309 a0001c0001t0090g0340 a0001c0001t0096g0276 a0001c0001t0097g0233 a0001c0001t0101g0351 a0001c0004t0100g0269 a0001c0006t0028g0210 a0001c0007t0003g0111	102	358	0.2849	-6	c.31 others(17): Show c.3171_*3176delAACATT	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	7/7	3171		chr13	TogoVar
SMAD9_chr13_36839831_36925238	36846164	TAGATTA TAGATTA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00738.hp1 HG01192.hp1 HG01361.hp2 others(2): Show HG00738.hp1 HG01192.hp1 HG01361.hp2 HG03017.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0038 a0001c0001t0034 a0001c0001t0038	a0001c0001t0034g0246 a0001c0001t0034g0299 a0001c0001t0034g0304 others(2): Show a0001c0001t0034g0246 a0001c0001t0034g0299 a0001c0001t0034g0304 a0001c0001t0038g0050 a0001c0001t0038g0073	5	358	0.0140	-6	c.25 others(17): Show c.2506_*2511delTAATCT	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	7/7	2506		chr13	TogoVar
SMAD9_chr13_36839831_36925238	36882227	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02683.hp1 HG02809.hp2 others(5): Show HG02145.hp1 HG02683.hp1 HG02809.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03540.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0011 a0001c0001t0018 others(5): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0018 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0086 a0001c0004t0100	a0001c0001t0005g0170 a0001c0001t0011g0164 a0001c0001t0018g0070 others(5): Show a0001c0001t0005g0170 a0001c0001t0011g0164 a0001c0001t0018g0070 a0001c0001t0081g0220 a0001c0001t0082g0218 a0001c0001t0083g0219 a0001c0001t0086g0268 a0001c0004t0100g0269	8	358	0.0224	-6	c.-18 others(25): Show c.-186-2358_-186-2353delCACACA	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMAD9_chr13_36839831_36925238	36893423	TATATAA TATATAA	T T	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp2 HG02145.hp1 others(20): Show HG01243.hp1 HG01496.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp1 HG02717.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0006 a0001c0001 a0001c0004 a0001c0006	a0001c0001t0011 a0001c0001t0028 a0001c0001t0029 others(15): Show a0001c0001t0011 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0046 a0001c0001t0074 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0102 a0001c0004t0100 a0001c0006t0028	a0001c0001t0011g0164 a0001c0001t0028g0207 a0001c0001t0028g0209 others(20): Show a0001c0001t0011g0164 a0001c0001t0028g0207 a0001c0001t0028g0209 a0001c0001t0029g0205 a0001c0001t0029g0206 a0001c0001t0029g0212 a0001c0001t0030g0213 a0001c0001t0030g0214 a0001c0001t0030g0217 a0001c0001t0046g0004 a0001c0001t0074g0168 a0001c0001t0077g0215 a0001c0001t0078g0211 a0001c0001t0079g0208 a0001c0001t0080g0216 a0001c0001t0081g0220 a0001c0001t0082g0218 a0001c0001t0083g0219 a0001c0001t0084g0225 a0001c0001t0086g0268 a0001c0001t0102g0355 a0001c0004t0100g0269 a0001c0006t0028g0210	23	358	0.0643	-6	c.-18 others(27): Show c.-186-13554_-186-13549delTTATAT	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMAD9_chr13_36839831_36925238	36900684	TACACAC TACACAC	T T	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00609.hp1 HG00621.hp2 others(88): Show HG00438.hp2 HG00609.hp1 HG00621.hp2 HG01243.hp1 HG01257.hp1 HG01496.hp2 HG01884.hp2 HG01891.hp2 HG02027.hp2 HG02040.hp2 HG02080.hp2 HG02129.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp1 HG02602.hp1 HG02602.hp2 HG02717.hp1 HG02723.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03579.hp1 HG03710.hp2 HG03831.hp2 HG03927.hp1 HG04115.hp2 NA18522.hp1 NA18940.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18969.hp1 NA18969.hp2 NA18978.hp1 NA18980.hp2 NA18981.hp2 NA18986.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA19002.hp2 NA19004.hp1 NA19006.hp2 NA19007.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19075.hp2 NA19080.hp2 NA19081.hp1 NA19083.hp2 NA19084.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0023 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0041 a0001c0001t0042 a0001c0001t0046 a0001c0001t0053 a0001c0001t0056 a0001c0001t0064 a0001c0001t0068 a0001c0001t0070 a0001c0001t0074 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0084 a0001c0001t0086 a0001c0001t0101 a0001c0001t0102 a0001c0002t0036 a0001c0006t0028 a0002c0003t0001 a0004c0005t0002	a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0242 others(88): Show a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0029 a0001c0001t0002g0031 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0052 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0003g0097 a0001c0001t0003g0126 a0001c0001t0003g0140 a0001c0001t0003g0158 a0001c0001t0004g0094 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0139 a0001c0001t0004g0142 a0001c0001t0004g0143 a0001c0001t0004g0144 a0001c0001t0004g0161 a0001c0001t0005g0127 a0001c0001t0005g0154 a0001c0001t0006g0249 a0001c0001t0007g0024 a0001c0001t0007g0051 a0001c0001t0007g0053 a0001c0001t0007g0084 a0001c0001t0008g0264 a0001c0001t0009g0159 a0001c0001t0010g0265 a0001c0001t0011g0136 a0001c0001t0011g0138 a0001c0001t0011g0164 a0001c0001t0012g0032 a0001c0001t0012g0035 a0001c0001t0012g0056 a0001c0001t0012g0081 a0001c0001t0017g0349 a0001c0001t0017g0352 a0001c0001t0017g0353 a0001c0001t0019g0048 a0001c0001t0019g0080 a0001c0001t0020g0141 a0001c0001t0023g0006 a0001c0001t0026g0135 a0001c0001t0026g0146 a0001c0001t0028g0207 a0001c0001t0028g0209 a0001c0001t0029g0205 a0001c0001t0029g0206 a0001c0001t0029g0212 a0001c0001t0030g0213 a0001c0001t0030g0214 a0001c0001t0030g0217 a0001c0001t0041g0145 a0001c0001t0042g0204 a0001c0001t0046g0004 a0001c0001t0053g0082 a0001c0001t0056g0085 a0001c0001t0064g0131 a0001c0001t0068g0137 a0001c0001t0070g0153 a0001c0001t0074g0168 a0001c0001t0077g0215 a0001c0001t0078g0211 a0001c0001t0079g0208 a0001c0001t0080g0216 a0001c0001t0081g0220 a0001c0001t0083g0219 a0001c0001t0084g0225 a0001c0001t0086g0268 a0001c0001t0101g0351 a0001c0001t0102g0355 a0001c0002t0036g0290 a0001c0002t0036g0310 a0001c0002t0036g0311 a0001c0006t0028g0210 a0002c0003t0001g0255 a0004c0005t0002g0030	91	358	0.2542	-6	c.-18 others(27): Show c.-187+19426_-187+19431delGTGTGT	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMAD9_chr13_36839831_36925238	36905774	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00544.hp2 HG01361.hp1 others(10): Show HG00140.hp2 HG00544.hp2 HG01361.hp1 HG01993.hp1 HG02004.hp2 HG02027.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18989.hp1 NA19009.hp2 NA19077.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0009 a0001c0001t0020 a0001c0001t0037 a0001c0001t0040	a0001c0001t0003g0105 a0001c0001t0004g0103 a0001c0001t0005g0093 others(10): Show a0001c0001t0003g0105 a0001c0001t0004g0103 a0001c0001t0005g0093 a0001c0001t0005g0102 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0120 a0001c0001t0008g0232 a0001c0001t0009g0101 a0001c0001t0009g0118 a0001c0001t0020g0119 a0001c0001t0037g0011 a0001c0001t0040g0117	13	358	0.0363	-6	c.-18 others(27): Show c.-187+14336_-187+14341delTTTTTT	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMAD9_chr13_36839831_36925238	36909995	AGACCAT AGACCAT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02723.hp2 HG03041.hp1 HG01981.hp2 HG02723.hp2 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0014 a0001c0001t0005 a0001c0001t0014	a0001c0001t0005g0167 a0001c0001t0014g0165 a0001c0001t0014g0166 a0001c0001t0005g0167 a0001c0001t0014g0165 a0001c0001t0014g0166	3	358	0.0084	-6	c.-18 others(27): Show c.-187+10115_-187+10120delATGGTC	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMAD9_chr13_36839831_36925238	36911615	TGGGGGG TGGGGGG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(75): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00639.hp1 HG00642.hp1 HG00738.hp1 HG00741.hp2 HG01106.hp2 HG01168.hp1 HG01243.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01978.hp2 HG02055.hp2 HG02074.hp2 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03942.hp2 HG04199.hp1 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18974.hp2 NA18981.hp2 NA18991.hp1 NA19002.hp2 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19075.hp2 NA19077.hp2 NA19240.hp2 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(36): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0016 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0059 a0001c0001t0060 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0001t0083 a0001c0001t0084 a0001c0001t0085 a0001c0001t0087 a0001c0001t0090 a0001c0001t0092 a0001c0001t0095 a0001c0001t0097 a0001c0001t0099 a0001c0001t0102 a0001c0004t0061 a0001c0006t0028 a0002c0003t0001	a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 others(75): Show a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0335 a0001c0001t0001g0342 a0001c0001t0005g0092 a0001c0001t0006g0226 a0001c0001t0006g0234 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0252 a0001c0001t0006g0258 a0001c0001t0008g0232 a0001c0001t0008g0264 a0001c0001t0010g0231 a0001c0001t0010g0236 a0001c0001t0010g0248 a0001c0001t0010g0251 a0001c0001t0010g0262 a0001c0001t0013g0239 a0001c0001t0013g0240 a0001c0001t0013g0341 a0001c0001t0016g0241 a0001c0001t0028g0207 a0001c0001t0028g0209 a0001c0001t0029g0205 a0001c0001t0029g0206 a0001c0001t0029g0212 a0001c0001t0030g0213 a0001c0001t0030g0214 a0001c0001t0030g0217 a0001c0001t0031g0221 a0001c0001t0031g0222 a0001c0001t0031g0224 a0001c0001t0032g0260 a0001c0001t0032g0261 a0001c0001t0033g0254 a0001c0001t0033g0338 a0001c0001t0033g0339 a0001c0001t0034g0246 a0001c0001t0039g0088 a0001c0001t0039g0089 a0001c0001t0042g0204 a0001c0001t0043g0333 a0001c0001t0043g0336 a0001c0001t0044g0337 a0001c0001t0059g0087 a0001c0001t0060g0091 a0001c0001t0077g0215 a0001c0001t0078g0211 a0001c0001t0079g0208 a0001c0001t0080g0216 a0001c0001t0081g0220 a0001c0001t0082g0218 a0001c0001t0083g0219 a0001c0001t0084g0225 a0001c0001t0085g0223 a0001c0001t0087g0238 a0001c0001t0090g0340 a0001c0001t0092g0270 a0001c0001t0095g0228 a0001c0001t0097g0233 a0001c0001t0099g0334 a0001c0001t0102g0355 a0001c0004t0061g0090 a0001c0006t0028g0210 a0002c0003t0001g0255	78	358	0.2179	-6	c.-18 others(25): Show c.-187+8495_-187+8500delCCCCCC	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMAD9_chr13_36839831_36925238	36920184	AGCAGCG AGCAGCG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01243.hp1 HG01496.hp2 HG02258.hp1 others(10): Show HG01243.hp1 HG01496.hp2 HG02258.hp1 HG02818.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 others(5): Show a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0006t0028	a0001c0001t0028g0207 a0001c0001t0028g0209 a0001c0001t0029g0205 others(10): Show a0001c0001t0028g0207 a0001c0001t0028g0209 a0001c0001t0029g0205 a0001c0001t0029g0206 a0001c0001t0029g0212 a0001c0001t0030g0213 a0001c0001t0030g0214 a0001c0001t0030g0217 a0001c0001t0077g0215 a0001c0001t0078g0211 a0001c0001t0079g0208 a0001c0001t0080g0216 a0001c0006t0028g0210	13	358	0.0363	-6	c.-26 others(15): Show c.-261_-256delCGCTGC	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/7	40496		chr13	TogoVar
SMAD9_chr13_36839831_36925238	36920187	AGCGGCG AGCGGCG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00408.hp2 others(120): Show HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00438.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp2 HG02004.hp1 HG02074.hp2 HG02080.hp1 HG02135.hp1 HG02145.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02738.hp2 HG03098.hp1 HG03139.hp1 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03540.hp2 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18945.hp1 NA18947.hp2 NA18952.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18974.hp1 NA18974.hp2 NA18981.hp2 NA18991.hp1 NA18994.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19006.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19060.hp2 NA19063.hp2 NA19066.hp1 NA19072.hp1 NA19072.hp2 NA19075.hp2 NA19077.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA20300.hp1 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 others(27): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0043 a0001c0001t0044 a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0095 a0001c0001t0096 a0001c0001t0097 a0001c0001t0098 a0001c0001t0099 a0001c0002t0036 a0001c0004t0100 a0002c0003t0001	a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 others(120): Show a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0235 a0001c0001t0001g0237 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0263 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0298 a0001c0001t0001g0301 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0335 a0001c0001t0001g0342 a0001c0001t0006g0226 a0001c0001t0006g0234 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0006g0252 a0001c0001t0006g0258 a0001c0001t0006g0271 a0001c0001t0006g0275 a0001c0001t0006g0277 a0001c0001t0006g0292 a0001c0001t0006g0305 a0001c0001t0006g0317 a0001c0001t0006g0320 a0001c0001t0006g0321 a0001c0001t0006g0325 a0001c0001t0006g0343 a0001c0001t0008g0232 a0001c0001t0008g0264 a0001c0001t0008g0266 a0001c0001t0008g0288 a0001c0001t0008g0297 a0001c0001t0008g0332 a0001c0001t0008g0345 a0001c0001t0008g0346 a0001c0001t0008g0347 a0001c0001t0008g0348 a0001c0001t0010g0231 a0001c0001t0010g0236 a0001c0001t0010g0248 a0001c0001t0010g0251 a0001c0001t0010g0262 a0001c0001t0010g0265 a0001c0001t0010g0296 a0001c0001t0010g0300 a0001c0001t0013g0239 a0001c0001t0013g0240 a0001c0001t0013g0279 a0001c0001t0013g0280 a0001c0001t0013g0315 a0001c0001t0013g0341 a0001c0001t0015g0303 a0001c0001t0015g0316 a0001c0001t0015g0326 a0001c0001t0015g0328 a0001c0001t0015g0329 a0001c0001t0016g0241 a0001c0001t0016g0273 a0001c0001t0016g0283 a0001c0001t0016g0295 a0001c0001t0016g0327 a0001c0001t0032g0260 a0001c0001t0032g0261 a0001c0001t0032g0318 a0001c0001t0033g0254 a0001c0001t0033g0338 a0001c0001t0033g0339 a0001c0001t0034g0246 a0001c0001t0034g0299 a0001c0001t0034g0304 a0001c0001t0035g0278 a0001c0001t0035g0285 a0001c0001t0035g0319 a0001c0001t0043g0333 a0001c0001t0043g0336 a0001c0001t0044g0267 a0001c0001t0044g0337 a0001c0001t0086g0268 a0001c0001t0087g0238 a0001c0001t0088g0331 a0001c0001t0089g0309 a0001c0001t0090g0340 a0001c0001t0091g0344 a0001c0001t0092g0270 a0001c0001t0093g0302 a0001c0001t0094g0330 a0001c0001t0095g0228 a0001c0001t0096g0276 a0001c0001t0097g0233 a0001c0001t0098g0306 a0001c0001t0099g0334 a0001c0002t0036g0290 a0001c0002t0036g0310 a0001c0002t0036g0311 a0001c0004t0100g0269 a0002c0003t0001g0255	123	358	0.3436	-6	c.-26 others(15): Show c.-264_-259delCGCCGC	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/7	40499		chr13	TogoVar
SMAGP_chr12_51239558_51275415	51248432	ACACTCT ACACTCT	A A	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03130.hp2 HG03654.hp1 HG02622.hp2 HG03130.hp2 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008	a0001c0001t0004g0070 a0001c0001t0007g0393 a0001c0001t0008g0282 a0001c0001t0004g0070 a0001c0001t0007g0393 a0001c0001t0008g0282	3	410	0.0073	-6	c.35- others(21): Show c.35-1607_35-1602delAGAGTG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMAGP_chr12_51239558_51275415	51248434	ACTCTCT ACTCTCT	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00735.hp2 HG01070.hp1 others(24): Show HG00733.hp2 HG00735.hp2 HG01070.hp1 HG01981.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02735.hp1 HG03098.hp1 HG03195.hp1 HG03453.hp1 HG03471.hp2 HG03654.hp2 HG04115.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp2 NA18946.hp1 NA18963.hp1 NA18980.hp2 NA18983.hp2 NA18998.hp1 NA19074.hp1 NA19085.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0017	a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0050 others(23): Show a0001c0001t0001g0017 a0001c0001t0001g0028 a0001c0001t0001g0050 a0001c0001t0001g0118 a0001c0001t0001g0140 a0001c0001t0001g0154 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0177 a0001c0001t0002g0011 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0209 a0001c0001t0002g0338 a0001c0001t0002g0382 a0001c0001t0002g0383 a0001c0001t0003g0220 a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0004g0081 a0001c0001t0004g0083 a0001c0001t0008g0230 a0001c0001t0017g0015	27	410	0.0659	-6	c.35- others(21): Show c.35-1609_35-1604delAGAGAG	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMAP1_chr6_70662883_70867003	70725093	GTTTTTT GTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp1 HG01074.hp2 others(20): Show HG01069.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01891.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02135.hp1 HG02148.hp1 HG02602.hp1 HG02683.hp2 HG02809.hp2 NA18939.hp1 NA18962.hp1 NA18970.hp2 NA18973.hp1 NA18991.hp2 NA19009.hp1 NA19011.hp2 NA20300.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0007 a0001c0001 a0002c0002 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0016 a0005c0007t0002	a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0117 others(20): Show a0001c0001t0001g0011 a0001c0001t0001g0014 a0001c0001t0001g0117 a0001c0001t0001g0197 a0001c0001t0003g0052 a0001c0001t0004g0232 a0001c0001t0004g0253 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0295 a0001c0001t0004g0297 a0002c0002t0001g0021 a0002c0002t0001g0024 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0111 a0002c0002t0002g0244 a0002c0002t0002g0265 a0002c0002t0002g0289 a0002c0002t0016g0025 a0005c0007t0002g0292	23	306	0.0752	-6	c.119 others(23): Show c.119-7249_119-7244delTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70726874	GGTGTGT GGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG00544.hp1 others(67): Show HG00099.hp2 HG00423.hp1 HG00544.hp1 HG00621.hp1 HG00673.hp2 HG01257.hp2 HG01884.hp1 HG01952.hp2 HG02015.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02165.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02717.hp2 HG02809.hp1 HG02886.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 NA18747.hp2 NA18906.hp1 NA18947.hp1 NA18949.hp2 NA18951.hp1 NA18955.hp2 NA18956.hp1 NA18959.hp2 NA18962.hp1 NA18966.hp2 NA18969.hp2 NA18970.hp2 NA18973.hp1 NA18981.hp2 NA18987.hp1 NA18991.hp2 NA18994.hp1 NA18997.hp2 NA18998.hp1 NA19000.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19066.hp2 NA19070.hp1 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0002c0002 a0005c0007 others(1): Show a0001c0001 a0002c0002 a0005c0007 a0006c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(12): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0002c0002t0001 a0002c0002t0002 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0026 a0005c0007t0002 a0006c0006t0002	a0001c0001t0001g0143 a0001c0001t0004g0232 a0001c0001t0004g0253 others(67): Show a0001c0001t0001g0143 a0001c0001t0004g0232 a0001c0001t0004g0253 a0001c0001t0004g0264 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0291 a0001c0001t0004g0295 a0001c0001t0004g0297 a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0010g0110 a0001c0001t0011g0018 a0001c0001t0018g0201 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0083 a0002c0002t0002g0002 a0002c0002t0002g0230 a0002c0002t0002g0234 a0002c0002t0002g0239 a0002c0002t0002g0241 a0002c0002t0002g0242 a0002c0002t0002g0244 a0002c0002t0002g0245 a0002c0002t0002g0246 a0002c0002t0002g0247 a0002c0002t0002g0250 a0002c0002t0002g0252 a0002c0002t0002g0256 a0002c0002t0002g0258 a0002c0002t0002g0259 a0002c0002t0002g0260 a0002c0002t0002g0261 a0002c0002t0002g0262 a0002c0002t0002g0263 a0002c0002t0002g0265 a0002c0002t0002g0266 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0269 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0272 a0002c0002t0002g0273 a0002c0002t0002g0274 a0002c0002t0002g0277 a0002c0002t0002g0280 a0002c0002t0002g0282 a0002c0002t0002g0288 a0002c0002t0002g0289 a0002c0002t0002g0293 a0002c0002t0002g0294 a0002c0002t0002g0296 a0002c0002t0002g0298 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0002t0002g0301 a0002c0002t0002g0304 a0002c0002t0002g0305 a0002c0002t0022g0235 a0002c0002t0023g0238 a0002c0002t0024g0279 a0002c0002t0025g0251 a0002c0002t0026g0233 a0005c0007t0002g0292 a0006c0006t0002g0290	70	306	0.2288	-6	c.119 others(23): Show c.119-5469_119-5464delGTGTGT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70730043	TTTCTGC TTTCTGC	T T	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18960.hp2 NA18982.hp1 others(4): Show NA18947.hp2 NA18960.hp2 NA18982.hp1 NA18994.hp2 NA19057.hp2 NA19064.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0212 others(4): Show a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0223 a0001c0001t0001g0224	7	306	0.0229	-6	c.119 others(23): Show c.119-2331_119-2326delTGCTTC	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70808902	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01517.hp2 HG02280.hp1 HG02615.hp2 others(6): Show HG01517.hp2 HG02280.hp1 HG02615.hp2 HG02622.hp2 HG02896.hp2 HG03041.hp1 HG03453.hp1 HG03486.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 others(6): Show a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0182 a0001c0001t0001g0191 a0001c0001t0001g0203 a0001c0001t0003g0112	9	306	0.0294	-6	c.576 others(25): Show c.576+10199_576+10204delGTGTGT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70855050	TCATATA TCATATA	T T	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01069.hp1 HG01069.hp2 others(9): Show HG00423.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01099.hp1 HG02004.hp1 HG02055.hp1 HG02258.hp2 HG02273.hp1 HG03098.hp2 HG03453.hp2 HG03688.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0002c0002t0022	a0001c0001t0001g0014 a0001c0001t0001g0084 a0001c0001t0001g0120 others(9): Show a0001c0001t0001g0014 a0001c0001t0001g0084 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0229 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0113 a0002c0002t0001g0033 a0002c0002t0022g0235	12	306	0.0392	-6	c.790 others(23): Show c.790-1753_790-1748delATATAC	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	8/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP2_chr1_40368727_40428322	40399709	AAAAAAG AAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp2 others(97): Show HG00408.hp1 HG00438.hp2 HG00558.hp2 HG00621.hp2 HG00639.hp1 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp1 HG01169.hp1 HG01175.hp2 HG01243.hp2 HG01255.hp1 HG01496.hp2 HG01515.hp1 HG01884.hp1 HG01928.hp2 HG01952.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp2 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02148.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp2 HG02683.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02976.hp2 HG03225.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18906.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18975.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18992.hp1 NA18995.hp1 NA18997.hp1 NA18999.hp1 NA19000.hp2 NA19009.hp1 NA19057.hp2 NA19058.hp1 NA19062.hp1 NA19063.hp2 NA19066.hp2 NA19068.hp1 NA19072.hp1 NA19074.hp2 NA19077.hp2 NA19084.hp2 NA19085.hp1 NA19089.hp2 NA20752.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0003 a0002c0004 others(1): Show a0001c0001 a0001c0003 a0002c0004 a0003c0006	a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0005 a0001c0003t0001 a0002c0004t0004 a0003c0006t0001	a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0014 others(79): Show a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0068 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0301 a0001c0001t0005g0015 a0001c0003t0001g0093 a0001c0003t0001g0094 a0001c0003t0001g0095 a0001c0003t0001g0102 a0001c0003t0001g0103 a0001c0003t0001g0104 a0001c0003t0001g0105 a0001c0003t0001g0106 a0001c0003t0001g0107 a0001c0003t0001g0235 a0002c0004t0004g0246 a0002c0004t0004g0247 a0003c0006t0001g0193 a0003c0006t0001g0194	100	400	0.2500	-6	c.104 others(23): Show c.104-7022_104-7017delAGAAAA	SMAP2	ENSG00000084070.12	transcript	ENST00000372718.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMARCA1_chrX_129441506_129528490	129488610	TAAAAAA TAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03041.hp2 HG03098.hp1 others(2): Show HG02647.hp1 HG03041.hp2 HG03098.hp1 HG03486.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 others(2): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100	5	279	0.0179	-6	c.209 others(23): Show c.2097+321_2097+326delTTTTTT	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	16/24			chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129509635	TTTAGAG TTTAGAG	T T	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	279	0.0036	-6	c.811 others(23): Show c.811-1545_811-1540delCTCTAA	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	6/24			chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129520138	CGTGTGT CGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01496.hp1 HG02148.hp2 others(6): Show HG00438.hp2 HG01496.hp1 HG02148.hp2 HG02976.hp1 HG03453.hp1 HG03831.hp1 HG04204.hp1 NA19043.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(6): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222	9	279	0.0323	-6	c.175 others(23): Show c.175-1697_175-1692delACACAC	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	1/24			chrX	TogoVar
SMARCA1_chrX_129441506_129528490	129526720	CTTTTTT CTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18967.hp1 NA18948.hp1 NA18967.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0267 a0001c0001t0002g0011 a0001c0001t0001g0267 a0001c0001t0002g0011	2	279	0.0072	-6	c.-33 others(17): Show c.-3356_-3351delAAAAAA	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding		3231		chrX	TogoVar
SMARCA2_chr9_2010347_2198620	2060466	TTAAAGA TTAAAGA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp1 HG03471.hp2 HG01891.hp2 HG02922.hp1 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0023 a0002c0005 a0002c0023	a0002c0005t0002 a0002c0023t0001 a0002c0005t0002 a0002c0023t0001	a0002c0005t0002g0016 a0002c0005t0002g0021 a0002c0023t0001g0285 a0002c0005t0002g0016 a0002c0005t0002g0021 a0002c0023t0001g0285	3	316	0.0095	-6	c.152 others(23): Show c.1522-344_1522-339delATAAAG	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	8/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2082306	GGTGTGT GGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp1 HG01433.hp2 others(6): Show HG01257.hp2 HG01258.hp1 HG01433.hp2 HG02523.hp2 HG02622.hp1 NA18906.hp1 NA18947.hp1 NA19002.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0007	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0006 a0007c0064	a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0003t0001 a0002c0002t0001 a0003c0006t0001 a0007c0064t0002	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0188 others(6): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0188 a0001c0001t0007g0077 a0001c0003t0001g0079 a0002c0002t0001g0109 a0002c0002t0001g0169 a0003c0006t0001g0153 a0007c0064t0002g0260	9	316	0.0285	-6	c.234 others(23): Show c.2348+351_2348+356delTGTGTG	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	15/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2084370	CTGTGTG CTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG02572.hp1 HG02895.hp1 HG01928.hp2 HG02572.hp1 HG02895.hp1	a0001 a0006 a0001 a0006	a0001c0003 a0006c0019 a0001c0003 a0006c0019	a0001c0003t0001 a0001c0003t0002 a0006c0019t0001 a0001c0003t0001 a0001c0003t0002 a0006c0019t0001	a0001c0003t0001g0238 a0001c0003t0002g0271 a0006c0019t0001g0287 a0001c0003t0001g0238 a0001c0003t0002g0271 a0006c0019t0001g0287	3	316	0.0095	-6	c.252 others(23): Show c.2526+216_2526+221delGTGTGT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	17/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2102132	AGTGTGT AGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01257.hp2 HG01258.hp1 others(5): Show HG01175.hp2 HG01257.hp2 HG01258.hp1 HG02145.hp1 HG02258.hp2 HG02630.hp2 HG03098.hp1 HG03195.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0003 a0001c0040 others(2): Show a0001c0001 a0001c0003 a0001c0040 a0002c0005 a0004c0014	a0001c0001t0001 a0001c0003t0002 a0001c0040t0001 others(3): Show a0001c0001t0001 a0001c0003t0002 a0001c0040t0001 a0002c0005t0001 a0002c0005t0002 a0004c0014t0002	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0003t0002g0248 others(5): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0003t0002g0248 a0001c0040t0001g0019 a0002c0005t0001g0254 a0002c0005t0001g0308 a0002c0005t0002g0278 a0004c0014t0002g0023	8	316	0.0253	-6	c.312 others(23): Show c.3125+544_3125+549delTGTGTG	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	22/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2103659	TGTGAGA TGTGAGA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02258.hp2 HG02922.hp2 others(2): Show HG01175.hp2 HG02258.hp2 HG02922.hp2 HG03098.hp1 HG03195.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0005 a0004c0014 a0001c0003 a0002c0005 a0004c0014	a0001c0003t0002 a0002c0005t0001 a0002c0005t0002 others(1): Show a0001c0003t0002 a0002c0005t0001 a0002c0005t0002 a0004c0014t0002	a0001c0003t0002g0248 a0002c0005t0001g0254 a0002c0005t0002g0245 others(2): Show a0001c0003t0002g0248 a0002c0005t0001g0254 a0002c0005t0002g0245 a0002c0005t0002g0278 a0004c0014t0002g0023	5	316	0.0158	-6	c.312 others(23): Show c.3126-342_3126-337delTGAGAG	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	22/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2158160	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG01069.hp2 others(45): Show HG00423.hp1 HG00639.hp2 HG01069.hp2 HG01074.hp1 HG01109.hp1 HG01123.hp1 HG01243.hp1 HG01433.hp2 HG01891.hp2 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02145.hp1 HG02145.hp2 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02615.hp1 HG02647.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02965.hp2 HG03139.hp2 HG03239.hp1 HG03516.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18953.hp1 NA18965.hp2 NA18974.hp1 NA18975.hp2 NA19002.hp1 NA19056.hp1 NA19064.hp1 NA19088.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0014	a0001c0001 a0001c0003 a0001c0008 others(23): Show a0001c0001 a0001c0003 a0001c0008 a0001c0016 a0001c0025 a0001c0037 a0002c0002 a0002c0004 a0002c0005 a0002c0010 a0002c0023 a0002c0027 a0003c0006 a0003c0007 a0003c0029 a0003c0038 a0004c0011 a0004c0014 a0005c0020 a0005c0021 a0006c0028 a0007c0015 a0008c0067 a0009c0062 a0009c0063 a0014c0065	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0003t0001 a0001c0003t0002 a0001c0008t0001 a0001c0008t0002 a0001c0016t0001 a0001c0016t0012 a0001c0025t0001 a0001c0037t0001 a0002c0002t0001 a0002c0004t0001 a0002c0005t0001 a0002c0010t0002 a0002c0023t0001 a0002c0027t0001 a0003c0006t0001 a0003c0007t0002 a0003c0007t0018 a0003c0029t0001 a0003c0038t0001 a0004c0011t0017 a0004c0014t0001 a0005c0020t0001 a0005c0021t0001 a0005c0021t0002 a0006c0028t0001 a0007c0015t0001 a0008c0067t0001 a0009c0062t0002 a0009c0063t0006 a0014c0065t0001	a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0002g0214 others(45): Show a0001c0001t0001g0165 a0001c0001t0001g0178 a0001c0001t0002g0214 a0001c0001t0007g0077 a0001c0003t0001g0085 a0001c0003t0001g0132 a0001c0003t0002g0217 a0001c0003t0002g0267 a0001c0003t0002g0271 a0001c0008t0001g0086 a0001c0008t0002g0227 a0001c0008t0002g0304 a0001c0016t0001g0281 a0001c0016t0001g0282 a0001c0016t0012g0283 a0001c0025t0001g0045 a0001c0037t0001g0017 a0002c0002t0001g0004 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0169 a0002c0004t0001g0053 a0002c0004t0001g0058 a0002c0005t0001g0068 a0002c0005t0001g0261 a0002c0005t0001g0308 a0002c0010t0002g0209 a0002c0023t0001g0285 a0002c0027t0001g0309 a0003c0006t0001g0146 a0003c0006t0001g0233 a0003c0007t0002g0250 a0003c0007t0018g0127 a0003c0029t0001g0315 a0003c0038t0001g0018 a0004c0011t0017g0129 a0004c0014t0001g0199 a0005c0020t0001g0069 a0005c0020t0001g0257 a0005c0021t0001g0091 a0005c0021t0002g0024 a0005c0021t0002g0235 a0006c0028t0001g0234 a0007c0015t0001g0237 a0008c0067t0001g0027 a0009c0062t0002g0272 a0009c0063t0006g0280 a0014c0065t0001g0140	48	316	0.1519	-6	c.398 others(25): Show c.3982-3507_3982-3502delAAAAAA	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2171457	TTTATAC TTTATAC	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 NA19005.hp1 NA19060.hp1 HG00609.hp1 NA19005.hp1 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0004 a0001c0001 a0002c0002 a0002c0004	a0001c0001t0001 a0002c0002t0001 a0002c0004t0001 a0001c0001t0001 a0002c0002t0001 a0002c0004t0001	a0001c0001t0001g0204 a0002c0002t0001g0098 a0002c0004t0001g0043 a0001c0001t0001g0204 a0002c0002t0001g0098 a0002c0004t0001g0043	3	316	0.0095	-6	c.425 others(24): Show c.4253+996_4253+1001delACTTAT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	29/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2174924	CAAAAAA CAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01934.hp1 HG01934.hp2 others(4): Show HG00323.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG02004.hp1 HG02004.hp2 NA18941.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0015	a0001c0001 a0002c0004 a0002c0047 others(2): Show a0001c0001 a0002c0004 a0002c0047 a0006c0019 a0015c0057	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0002c0047t0001 a0006c0019t0002 a0015c0057t0001	a0001c0001t0001g0112 a0001c0001t0001g0136 a0001c0001t0002g0211 others(4): Show a0001c0001t0001g0112 a0001c0001t0001g0136 a0001c0001t0002g0211 a0002c0004t0001g0046 a0002c0047t0001g0141 a0006c0019t0002g0302 a0015c0057t0001g0171	7	316	0.0222	-6	c.425 others(25): Show c.4253+4475_4253+4480delAAAAAA	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	29/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	10962804	AAGTGCT AAGTGCT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01255.hp1 HG01516.hp2 others(9): Show HG01081.hp2 HG01255.hp1 HG01516.hp2 HG01981.hp1 HG02071.hp2 HG02135.hp2 HG02698.hp2 HG02735.hp2 HG03491.hp1 HG03492.hp1 HG03669.hp2 HG03831.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0001c0012 others(3): Show a0001c0001 a0001c0007 a0001c0012 a0001c0015 a0001c0027 a0002c0013	a0001c0001t0001 a0001c0007t0001 a0001c0012t0001 others(3): Show a0001c0001t0001 a0001c0007t0001 a0001c0012t0001 a0001c0015t0001 a0001c0027t0001 a0002c0013t0001	a0001c0001t0001g0024 a0001c0007t0001g0017 a0001c0007t0001g0018 others(9): Show a0001c0001t0001g0024 a0001c0007t0001g0017 a0001c0007t0001g0018 a0001c0007t0001g0020 a0001c0007t0001g0022 a0001c0012t0001g0013 a0001c0012t0001g0015 a0001c0015t0001g0021 a0001c0015t0001g0023 a0001c0027t0001g0014 a0002c0013t0001g0016 a0002c0013t0001g0019	12	286	0.0420	-6	c.-32 others(23): Show c.-32+1633_-32+1638delTGCTAG	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCA4_chr19_10956030_11067273	11061200	AAAAAAT AAAAAAT	A A	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02083.hp2 HG03239.hp2 others(4): Show HG01884.hp1 HG02083.hp2 HG03239.hp2 NA18947.hp2 NA18982.hp1 NA19081.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0129 a0001c0001t0001g0158 a0001c0001t0001g0162 others(4): Show a0001c0001t0001g0129 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0002t0001g0226 a0001c0002t0001g0254 a0001c0003t0001g0237 a0001c0004t0001g0079	7	286	0.0245	-6	c.491 others(23): Show c.4912-582_4912-577delAAAATA	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	34/34		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCA4_chr19_10956030_11067273	11061202	AAAATAT AAAATAT	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01243.hp2 HG01978.hp2 others(19): Show HG01192.hp1 HG01243.hp2 HG01978.hp2 HG01981.hp2 HG02135.hp1 HG02559.hp1 HG02630.hp1 HG02717.hp1 HG02735.hp1 HG03041.hp1 HG03669.hp1 HG03834.hp1 HG03942.hp2 NA18906.hp1 NA18940.hp1 NA18952.hp1 NA18957.hp1 NA18967.hp1 NA19060.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0018	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0001c0018t0001	a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0111 others(19): Show a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0111 a0001c0001t0001g0124 a0001c0001t0001g0130 a0001c0001t0001g0133 a0001c0002t0001g0242 a0001c0002t0001g0248 a0001c0003t0001g0137 a0001c0003t0001g0178 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0215 a0001c0003t0001g0216 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0250 a0001c0003t0001g0259 a0001c0009t0001g0001 a0001c0009t0001g0002 a0001c0009t0001g0003 a0001c0018t0001g0039	22	286	0.0769	-6	c.491 others(23): Show c.4912-580_4912-575delAATATA	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	34/34		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCA4_chr19_10956030_11067273	11061204	AATATAT AATATAT	A A	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG01257.hp2 others(13): Show HG00621.hp1 HG00673.hp1 HG01257.hp2 HG01975.hp2 HG02080.hp1 HG02129.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG04115.hp1 NA18948.hp1 NA18954.hp1 NA18961.hp1 NA18967.hp2 NA19000.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001	a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0109 others(13): Show a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0155 a0001c0001t0001g0169 a0001c0001t0001g0190 a0001c0002t0001g0222 a0001c0002t0001g0227 a0001c0002t0001g0249 a0001c0002t0001g0261 a0001c0003t0001g0154 a0001c0003t0001g0241 a0001c0003t0001g0245 a0001c0004t0001g0072 a0001c0004t0001g0185	16	286	0.0559	-6	c.491 others(23): Show c.4912-547_4912-542delATATAT	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	34/34		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCAD1_chr4_94202865_94296292	94252559	CTATCTT CTATCTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp2 HG02572.hp2 others(5): Show HG01109.hp2 HG02145.hp2 HG02572.hp2 HG02922.hp2 HG03139.hp2 HG06807.hp2 NA18906.hp2 NA19030.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0208 others(5): Show a0002c0003t0002g0203 a0002c0003t0002g0204 a0002c0003t0002g0208 a0002c0003t0002g0209 a0002c0003t0002g0210 a0002c0003t0002g0211 a0002c0003t0002g0212 a0002c0003t0002g0223	8	322	0.0248	-6	c.890 others(19): Show c.890-53_890-48delCTTTAT	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	8/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCAL1_chr2_216407484_216488053	216411392	CAAAAAA CAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp2 HG01109.hp1 HG01243.hp1 others(35): Show HG00642.hp2 HG01109.hp1 HG01243.hp1 HG01255.hp1 HG01256.hp1 HG01261.hp1 HG01884.hp1 HG01975.hp1 HG02109.hp2 HG02258.hp1 HG02451.hp2 HG02486.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp2 HG04199.hp2 HG06807.hp2 NA18992.hp2 NA19240.hp2 NA20129.hp1 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0005 a0006	a0001c0001 a0001c0003 a0001c0007 others(4): Show a0001c0001 a0001c0003 a0001c0007 a0002c0002 a0003c0004 a0005c0006 a0006c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0003t0001 a0001c0007t0001 a0001c0007t0005 a0002c0002t0001 a0003c0004t0001 a0005c0006t0001 a0006c0009t0001	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 others(32): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0161 a0001c0001t0001g0203 a0001c0001t0001g0231 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0216 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0004g0016 a0001c0003t0001g0230 a0001c0007t0001g0135 a0001c0007t0005g0164 a0001c0007t0005g0165 a0002c0002t0001g0008 a0002c0002t0001g0179 a0002c0002t0001g0199 a0003c0004t0001g0145 a0003c0004t0001g0147 a0003c0004t0001g0148 a0003c0004t0001g0149 a0003c0004t0001g0154 a0003c0004t0001g0156 a0003c0004t0001g0157 a0003c0004t0001g0158 a0003c0004t0001g0159 a0005c0006t0001g0005 a0005c0006t0001g0175 a0006c0009t0001g0170 a0006c0009t0001g0171	38	408	0.0931	-6	c.-13 others(17): Show c.-1351_-1346delAAAAAA	SMARCAL1	ENSG00000138375.14	transcript	ENST00000357276.9	protein_coding		1091		chr2	TogoVar
SMARCAL1_chr2_216407484_216488053	216434851	ATTTTTT ATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp1 HG01070.hp2 others(18): Show HG00280.hp1 HG00639.hp1 HG01070.hp2 HG01071.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG02280.hp1 HG02683.hp1 HG03225.hp2 HG03486.hp1 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03831.hp1 HG04115.hp2 HG04228.hp1 HG06807.hp2 NA18906.hp2 NA21309.hp2	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0008c0018 a0001c0001 a0001c0003 a0008c0018	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0008c0018t0001	a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 others(16): Show a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0003t0001g0014 a0001c0003t0001g0015 a0001c0003t0001g0107 a0001c0003t0001g0119 a0001c0003t0001g0120 a0001c0003t0001g0121 a0001c0003t0001g0122 a0001c0003t0001g0123 a0001c0003t0001g0124 a0001c0003t0001g0125 a0001c0003t0001g0128 a0001c0003t0001g0131 a0001c0003t0001g0230 a0001c0003t0002g0099 a0001c0003t0002g0100 a0008c0018t0001g0126	21	408	0.0515	-6	c.148 others(23): Show c.1486-472_1486-467delTTTTTT	SMARCAL1	ENSG00000138375.14	transcript	ENST00000357276.9	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
SMARCAL1_chr2_216407484_216488053	216449383	TTTTTTC TTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp2 others(88): Show HG00099.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp2 HG00544.hp2 HG00642.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp2 HG01069.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02083.hp2 HG02129.hp1 HG02148.hp2 HG02300.hp1 HG02602.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03927.hp2 HG04199.hp1 NA18612.hp1 NA18941.hp1 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18949.hp1 NA18951.hp1 NA18961.hp2 NA18962.hp2 NA18968.hp1 NA18971.hp1 NA18972.hp2 NA18975.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp1 NA18984.hp1 NA18986.hp2 NA18987.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp1 NA18995.hp2 NA18999.hp1 NA19001.hp1 NA19004.hp1 NA19006.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19077.hp1 NA19079.hp1 NA19084.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19089.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0010 a0001c0012 others(3): Show a0001c0001 a0001c0010 a0001c0012 a0001c0013 a0001c0017 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0010t0002 a0001c0012t0002 a0001c0013t0002 a0001c0017t0002 a0004c0005t0001	a0001c0001t0001g0019 a0001c0001t0001g0161 a0001c0001t0001g0240 others(78): Show a0001c0001t0001g0019 a0001c0001t0001g0161 a0001c0001t0001g0240 a0001c0001t0001g0350 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0010t0002g0072 a0001c0010t0002g0073 a0001c0012t0002g0061 a0001c0012t0002g0088 a0001c0013t0002g0078 a0001c0013t0002g0102 a0001c0017t0002g0062 a0004c0005t0001g0114 a0004c0005t0001g0115 a0004c0005t0001g0116 a0004c0005t0001g0117 a0004c0005t0001g0118	91	408	0.2230	-6	c.185 others(25): Show c.1852-1439_1852-1434delCTTTTT	SMARCAL1	ENSG00000138375.14	transcript	ENST00000357276.9	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
SMARCB1_chr22_23781966_23843009	23797306	TTTATTA TTTATTA	T T	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01257.hp2 others(38): Show HG01167.hp1 HG01169.hp1 HG01257.hp2 HG01346.hp1 HG01433.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp1 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03540.hp1 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 others(11): Show a0001c0001t0005 a0001c0001t0009 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0035 a0001c0001t0036 a0001c0001t0048 a0001c0001t0049	a0001c0001t0005g0319 a0001c0001t0005g0331 a0001c0001t0009g0336 others(37): Show a0001c0001t0005g0319 a0001c0001t0005g0331 a0001c0001t0009g0336 a0001c0001t0009g0337 a0001c0001t0009g0338 a0001c0001t0009g0339 a0001c0001t0009g0340 a0001c0001t0009g0341 a0001c0001t0009g0342 a0001c0001t0009g0343 a0001c0001t0009g0346 a0001c0001t0009g0347 a0001c0001t0009g0349 a0001c0001t0009g0352 a0001c0001t0009g0353 a0001c0001t0013g0006 a0001c0001t0013g0320 a0001c0001t0013g0321 a0001c0001t0013g0322 a0001c0001t0013g0323 a0001c0001t0013g0324 a0001c0001t0013g0325 a0001c0001t0016g0007 a0001c0001t0016g0328 a0001c0001t0016g0329 a0001c0001t0017g0006 a0001c0001t0017g0076 a0001c0001t0017g0077 a0001c0001t0020g0332 a0001c0001t0020g0333 a0001c0001t0023g0344 a0001c0001t0024g0345 a0001c0001t0024g0348 a0001c0001t0025g0350 a0001c0001t0025g0351 a0001c0001t0028g0335 a0001c0001t0035g0330 a0001c0001t0036g0334 a0001c0001t0048g0327 a0001c0001t0049g0326	41	363	0.1130	-6	c.362 others(23): Show c.362+3627_363-3624delATTATT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCB1_chr22_23781966_23843009	23818137	GGTGTGT GGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02109.hp2 HG02257.hp1 others(14): Show HG01433.hp1 HG02109.hp2 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02622.hp1 HG02818.hp1 HG02896.hp1 HG02970.hp1 HG02976.hp2 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03540.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0017 a0001c0001t0023 others(2): Show a0001c0001t0009 a0001c0001t0017 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025	a0001c0001t0009g0337 a0001c0001t0009g0338 a0001c0001t0009g0339 others(14): Show a0001c0001t0009g0337 a0001c0001t0009g0338 a0001c0001t0009g0339 a0001c0001t0009g0340 a0001c0001t0009g0341 a0001c0001t0009g0342 a0001c0001t0009g0343 a0001c0001t0009g0347 a0001c0001t0009g0349 a0001c0001t0009g0352 a0001c0001t0017g0076 a0001c0001t0017g0077 a0001c0001t0023g0063 a0001c0001t0023g0344 a0001c0001t0024g0345 a0001c0001t0024g0348 a0001c0001t0025g0350	17	363	0.0468	-6	c.795 others(23): Show c.795+1234_795+1239delGTGTGT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47600998	TGAGAGA TGAGAGA	T T	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02922.hp2 HG01891.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0041 a0001c0001t0002g0096 a0001c0001t0001g0041 a0001c0001t0002g0096	2	219	0.0091	-6	c.304 others(25): Show c.3043+9062_3043+9067delTCTCTC	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	26/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47625918	AAGGCTG AAGGCTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02735.hp2 NA19000.hp1 others(3): Show HG00544.hp1 HG02735.hp2 NA19000.hp1 NA19065.hp1 NA19079.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 others(3): Show a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076	6	219	0.0274	-6	c.264 others(25): Show c.2647-3583_2647-3578delCAGCCT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	24/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47636786	ATATGTG ATATGTG	A A	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01258.hp1 HG01891.hp2 others(16): Show HG00621.hp2 HG01258.hp1 HG01891.hp2 HG02559.hp2 HG02572.hp1 HG02717.hp1 HG02723.hp2 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03239.hp1 HG03540.hp2 HG03579.hp1 NA18970.hp2 NA19004.hp1 NA19005.hp2 NA19030.hp1 NA19043.hp2 NA20905.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0010 a0001c0001 a0001c0002 a0005c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0005c0010t0001	a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 others(16): Show a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0056 a0001c0001t0001g0080 a0001c0001t0002g0099 a0001c0001t0002g0111 a0001c0001t0002g0124 a0001c0001t0002g0131 a0001c0001t0002g0137 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0002t0002g0105 a0001c0002t0002g0172 a0005c0010t0001g0005	19	219	0.0868	-6	c.237 others(23): Show c.2377-656_2377-651delCACATA	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	22/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47636788	ATGTGTG ATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00673.hp2 HG00735.hp1 others(21): Show HG00544.hp1 HG00673.hp2 HG00735.hp1 HG01081.hp1 HG01169.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02451.hp1 HG02735.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03139.hp2 HG03516.hp1 HG03579.hp2 HG03710.hp2 NA18747.hp2 NA18943.hp2 NA18998.hp2 NA19065.hp1 NA19079.hp1 NA19087.hp2 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0038 others(21): Show a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0081 a0001c0001t0001g0149 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0200 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0002g0180 a0001c0001t0005g0188	24	219	0.1096	-6	c.237 others(23): Show c.2377-658_2377-653delCACACA	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	22/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47749736	CAGAGAG CAGAGAG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp2 HG02145.hp1 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0011 a0001c0001t0001 a0001c0001t0011	a0001c0001t0001g0181 a0001c0001t0011g0182 a0001c0001t0001g0181 a0001c0001t0011g0182	2	219	0.0091	-6	c.316 others(23): Show c.316-3749_316-3744delCTCTCT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27			chr3	TogoVar
SMARCC2_chr12_56157359_56194483	56167951	AACACAC AACACAC	A A	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01070.hp2 HG01071.hp1 others(23): Show HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01978.hp2 HG02055.hp2 HG02145.hp1 HG02145.hp2 HG02280.hp1 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03540.hp1 HG03540.hp2 NA18522.hp2 NA18906.hp1 NA18970.hp2 NA18974.hp1 NA19030.hp2 NA19240.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0001g0025 a0001c0001t0001g0054 a0001c0001t0002g0009 others(13): Show a0001c0001t0001g0025 a0001c0001t0001g0054 a0001c0001t0002g0009 a0001c0001t0002g0015 a0001c0001t0002g0018 a0001c0001t0002g0035 a0001c0001t0002g0137 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0157	26	250	0.1040	-6	c.285 others(23): Show c.2850+103_2850+108delGTGTGT	SMARCC2	ENSG00000139613.12	transcript	ENST00000550164.6	protein_coding	26/28			chr12	TogoVar
SMC1A_chrX_53369149_53427654	53371247	GAAAAAA GAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	213	0.0047	-6	c.88 others(17): Show c.8850_*8855delTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding		2901		chrX	TogoVar
SMC1A_chrX_53369149_53427654	53373567	AAGACTC AAGACTC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG03579.hp1 HG02559.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0009 a0001c0001t0007g0010 a0001c0001t0007g0009 a0001c0001t0007g0010	2	213	0.0094	-6	c.65 others(17): Show c.6530_*6535delGAGTCT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding		581		chrX	TogoVar

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