Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLTM_chr15_58874050_58938679	58922541	TTTATATG others(6): Show TTTATATGTATATA	T T	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03579.hp2 HG03669.hp2 others(3): Show HG03225.hp1 HG03579.hp2 HG03669.hp2 HG06807.hp2 NA19004.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0163 a0001c0001t0001g0233 a0001c0001t0001g0234 others(3): Show a0001c0001t0001g0163 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0252 a0001c0001t0002g0260 a0001c0001t0002g0266	6	373	0.0161	-13	c.251 others(30): Show c.251-5555_251-5543delTATATACATATAA	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	2/20			chr15	TogoVar
SLURP2_chr8_142759338_142774828	142765968	AAAAAACA others(6): Show AAAAAACAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG02965.hp2 HG02976.hp1 others(2): Show HG01975.hp2 HG02965.hp2 HG02976.hp1 HG03209.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0002g0027 a0001c0001t0001g0037 a0001c0001t0002g0027	5	434	0.0115	-13	c.53- others(26): Show c.53-841_53-829delGTTTTTTGTTTTT	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding	1/2			chr8	TogoVar
SLX1B_chr16_29449533_29463219	29458716	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	58	0.0172	-13	c.59 others(22): Show c.593_*605delTTTTTTTTTTTTT	SLX1B	ENSG00000181625.18	transcript	ENST00000330181.10	protein_coding		498		chr16	TogoVar
SLX4IP_chr20_10430305_10633030	10436253	TGACTCTC others(6): Show TGACTCTCACCCCA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02647.hp2 NA19030.hp1 others(1): Show HG02559.hp1 HG02647.hp2 NA19030.hp1 NA21309.hp1	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0004 a0006c0009 a0001c0001 a0004c0004 a0006c0009	a0001c0001t0052 a0001c0001t0053 a0004c0004t0054 others(1): Show a0001c0001t0052 a0001c0001t0053 a0004c0004t0054 a0006c0009t0028	a0001c0001t0052g0206 a0001c0001t0053g0208 a0004c0004t0054g0209 others(1): Show a0001c0001t0052g0206 a0001c0001t0053g0208 a0004c0004t0054g0209 a0006c0009t0028g0207	4	264	0.0152	-13	c.-30 others(28): Show c.-30+803_-30+815delCTCTCACCCCAGA	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX4IP_chr20_10430305_10633030	10566283	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01346.hp2 HG01433.hp2 HG01496.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0005 a0001c0001 a0005c0005	a0001c0001t0012 a0005c0005t0017 a0001c0001t0012 a0005c0005t0017	a0001c0001t0012g0240 a0005c0005t0017g0249 a0005c0005t0017g0254 a0001c0001t0012g0240 a0005c0005t0017g0249 a0005c0005t0017g0254	3	95	0.0316	-13	c.238 others(30): Show c.238+5479_238+5491delTTTTTTTTTTTTT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX4IP_chr20_10430305_10633030	10616386	AAAATGAA others(6): Show AAAATGAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00438.hp2 others(38): Show HG00099.hp2 HG00323.hp2 HG00438.hp2 HG01168.hp1 HG01243.hp1 HG01978.hp1 HG02015.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG03041.hp1 HG03471.hp2 HG03491.hp1 HG03540.hp1 HG03834.hp2 HG04184.hp1 HG04228.hp2 NA18747.hp2 NA18943.hp1 NA18945.hp2 NA18954.hp1 NA18959.hp2 NA18965.hp1 NA18971.hp2 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18995.hp1 NA19002.hp1 NA19003.hp2 NA19006.hp2 NA19011.hp2 NA19060.hp1 NA19064.hp1 NA19079.hp1 NA19081.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0016 others(4): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0016 a0001c0001t0023 a0001c0001t0031 a0001c0001t0059 a0001c0001t0060	a0001c0001t0003g0026 a0001c0001t0003g0046 a0001c0001t0003g0062 others(38): Show a0001c0001t0003g0026 a0001c0001t0003g0046 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0085 a0001c0001t0003g0087 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0110 a0001c0001t0003g0121 a0001c0001t0003g0126 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0130 a0001c0001t0003g0134 a0001c0001t0003g0135 a0001c0001t0003g0144 a0001c0001t0003g0159 a0001c0001t0003g0162 a0001c0001t0003g0177 a0001c0001t0003g0179 a0001c0001t0003g0183 a0001c0001t0003g0202 a0001c0001t0003g0217 a0001c0001t0003g0228 a0001c0001t0003g0247 a0001c0001t0003g0248 a0001c0001t0003g0263 a0001c0001t0012g0102 a0001c0001t0016g0040 a0001c0001t0016g0086 a0001c0001t0016g0190 a0001c0001t0016g0197 a0001c0001t0023g0031 a0001c0001t0023g0083 a0001c0001t0031g0107 a0001c0001t0031g0198 a0001c0001t0059g0160 a0001c0001t0060g0044	41	239	0.1715	-13	c.406 others(30): Show c.406-4923_406-4911delGAAATAAATAAAT	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX4IP_chr20_10430305_10633030	10626316	AGCCACCG others(6): Show AGCCACCGCACCCG	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02280.hp1 HG02559.hp1 HG02280.hp1 HG02559.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0009 a0001c0001 a0006c0009	a0001c0001t0028 a0006c0009t0028 a0001c0001t0028 a0006c0009t0028	a0001c0001t0028g0226 a0006c0009t0028g0207 a0001c0001t0028g0226 a0006c0009t0028g0207	2	264	0.0076	-13	c.29 others(24): Show c.2941_*2953delACCGCACCCGGCC	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	8/8	2941	INFO_REALIGN_3_PRIME	chr20	TogoVar
SLX9_chr21_44935029_44981973	44978640	GGTGTGGG others(6): Show GGTGTGGGGCGCGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0227 a0002c0002t0001g0227	1	180	0.0056	-13	c.18 others(24): Show c.1838_*1850delGTGTGGGGCGCGT	SLX9	ENSG00000160256.14	transcript	ENST00000291634.11	protein_coding		1668		chr21	TogoVar
SMAD2_chr18_47803957_47935659	47850570	TATTATAT others(6): Show TATTATATATTATA	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0111 a0001c0001t0014g0112 a0001c0001t0014g0111 a0001c0001t0014g0112	2	308	0.0065	-13	c.784 others(28): Show c.784+691_784+703delTATAATATATAAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850656	TATTATAT others(6): Show TATTATATACTATA	T T	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0139	a0001c0001t0139g0009 a0001c0001t0139g0009	1	308	0.0032	-13	c.784 others(28): Show c.784+605_784+617delTATAGTATATAAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67084070	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02055.hp2 HG02451.hp2 others(6): Show HG01884.hp1 HG02055.hp2 HG02451.hp2 HG02572.hp1 HG02630.hp2 HG02970.hp2 HG03453.hp1 HG03471.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 others(5): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0016 a0001c0001t0023 a0001c0001t0056 a0001c0001t0057 a0001c0002t0023 a0001c0002t0058	a0001c0001t0003g0006 a0001c0001t0006g0071 a0001c0001t0016g0005 others(6): Show a0001c0001t0003g0006 a0001c0001t0006g0071 a0001c0001t0016g0005 a0001c0001t0023g0203 a0001c0001t0056g0201 a0001c0001t0057g0202 a0001c0002t0023g0200 a0001c0002t0023g0204 a0001c0002t0058g0199	9	137	0.0657	-13	c.206 others(32): Show c.206+17721_206+17733delTTTTTTTTTTTTT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67144097	ACATGTCC others(6): Show ACATGTCCATCACT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	308	0.0032	-13	c.207 others(32): Show c.207-20796_207-20784delATGTCCATCACTC	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67160770	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01255.hp2 HG01257.hp1 others(24): Show HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01361.hp2 HG01891.hp1 HG02027.hp2 HG02056.hp1 HG02280.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02683.hp1 HG02970.hp1 HG03453.hp1 HG03453.hp2 HG03710.hp2 NA18906.hp1 NA18963.hp1 NA18967.hp2 NA19000.hp2 NA19054.hp2 NA19074.hp1 NA19083.hp1 NA19090.hp1 NA19090.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0011 a0001c0001t0022 a0001c0001t0027 a0001c0001t0039 a0001c0001t0041 a0001c0001t0043 a0001c0001t0047 a0001c0001t0054 a0001c0002t0018	a0001c0001t0001g0092 a0001c0001t0001g0130 a0001c0001t0001g0178 others(24): Show a0001c0001t0001g0092 a0001c0001t0001g0130 a0001c0001t0001g0178 a0001c0001t0001g0223 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0250 a0001c0001t0001g0277 a0001c0001t0002g0009 a0001c0001t0002g0110 a0001c0001t0002g0171 a0001c0001t0002g0260 a0001c0001t0003g0290 a0001c0001t0004g0294 a0001c0001t0005g0042 a0001c0001t0006g0021 a0001c0001t0006g0071 a0001c0001t0008g0055 a0001c0001t0011g0085 a0001c0001t0022g0161 a0001c0001t0027g0115 a0001c0001t0039g0012 a0001c0001t0041g0117 a0001c0001t0043g0272 a0001c0001t0047g0169 a0001c0001t0054g0163 a0001c0002t0018g0011	27	29	0.9310	-13	c.207 others(30): Show c.207-4095_207-4083delAAAAAAAAAAAAA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67196179	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp2 HG04204.hp1 HG02615.hp2 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0020 a0001c0002t0002 a0001c0001t0020 a0001c0002t0002	a0001c0001t0020g0229 a0001c0002t0002g0214 a0001c0001t0020g0229 a0001c0002t0002g0214	2	308	0.0065	-13	c.56 others(24): Show c.5644_*5656delAAAAAAAAAAAAG	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding		1011		chr15	TogoVar
SMAD5_chr5_136127845_136187733	136165662	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01496.hp2 HG03130.hp1 others(5): Show HG01167.hp2 HG01496.hp2 HG03130.hp1 HG03225.hp1 HG03579.hp2 NA18522.hp2 NA18969.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015	a0001c0001t0001g0162 a0001c0001t0008g0188 a0001c0001t0013g0075 others(4): Show a0001c0001t0001g0162 a0001c0001t0008g0188 a0001c0001t0013g0075 a0001c0001t0014g0130 a0001c0001t0014g0131 a0001c0001t0015g0022 a0001c0001t0015g0076	8	70	0.1143	-13	c.775 others(30): Show c.775+2296_775+2308delTTTTTTTTTTTTT	SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMAD5_chr5_136127845_136187733	136176457	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0069 a0001c0001t0013g0069	1	112	0.0089	-13	c.125 others(30): Show c.1255-866_1255-854delAAAAAAAAAAAAA	SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMAD6_chr15_66697236_66787849	66741321	GCCTCAAA others(6): Show GCCTCAAACCCCAC	G G	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp1 HG00438.hp1 others(189): Show HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01070.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp2 HG02451.hp2 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04204.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp2 NA18968.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18983.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18993.hp2 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp2 NA19062.hp1 NA19063.hp1 NA19064.hp1 NA19066.hp1 NA19077.hp2 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0006 a0007	a0001c0001 a0001c0002 a0001c0004 others(8): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0001c0017 a0001c0018 a0001c0019 a0004c0009 a0005c0008 a0006c0014 a0007c0020	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0002t0008 a0001c0002t0011 a0001c0002t0013 a0001c0002t0023 a0001c0002t0024 a0001c0004t0001 a0001c0004t0025 a0001c0007t0002 a0001c0017t0008 a0001c0018t0002 a0001c0019t0006 a0004c0009t0007 a0005c0008t0001 a0005c0008t0002 a0006c0014t0001 a0007c0020t0001	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(182): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0132 a0001c0001t0001g0134 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0184 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0091 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0106 a0001c0001t0002g0113 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0133 a0001c0001t0002g0135 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0167 a0001c0001t0002g0176 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0321 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0220 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0004g0003 a0001c0001t0004g0004 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0039 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0048 a0001c0001t0004g0049 a0001c0001t0004g0051 a0001c0001t0004g0052 a0001c0001t0004g0053 a0001c0001t0004g0058 a0001c0001t0004g0062 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0070 a0001c0001t0004g0073 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0004g0077 a0001c0001t0004g0078 a0001c0001t0004g0081 a0001c0001t0004g0082 a0001c0001t0004g0087 a0001c0001t0005g0014 a0001c0001t0005g0205 a0001c0001t0005g0206 a0001c0001t0005g0214 a0001c0001t0005g0216 a0001c0001t0005g0227 a0001c0001t0005g0259 a0001c0001t0006g0035 a0001c0001t0006g0037 a0001c0001t0006g0038 a0001c0001t0006g0040 a0001c0001t0006g0045 a0001c0001t0006g0046 a0001c0001t0006g0057 a0001c0001t0006g0060 a0001c0001t0006g0061 a0001c0001t0006g0063 a0001c0001t0006g0064 a0001c0001t0006g0071 a0001c0001t0006g0072 a0001c0001t0006g0080 a0001c0001t0012g0199 a0001c0001t0014g0215 a0001c0001t0015g0050 a0001c0001t0015g0059 a0001c0001t0016g0266 a0001c0001t0016g0267 a0001c0001t0017g0174 a0001c0001t0021g0138 a0001c0001t0022g0319 a0001c0001t0027g0019 a0001c0001t0028g0268 a0001c0001t0029g0085 a0001c0001t0030g0291 a0001c0002t0008g0006 a0001c0002t0008g0094 a0001c0002t0008g0103 a0001c0002t0008g0118 a0001c0002t0008g0130 a0001c0002t0008g0131 a0001c0002t0008g0146 a0001c0002t0008g0152 a0001c0002t0008g0153 a0001c0002t0008g0320 a0001c0002t0011g0023 a0001c0002t0011g0054 a0001c0002t0011g0056 a0001c0002t0011g0079 a0001c0002t0013g0008 a0001c0002t0013g0217 a0001c0002t0023g0099 a0001c0002t0024g0020 a0001c0004t0001g0108 a0001c0004t0001g0109 a0001c0004t0001g0110 a0001c0004t0025g0112 a0001c0007t0002g0119 a0001c0007t0002g0122 a0001c0007t0002g0126 a0001c0017t0008g0111 a0001c0018t0002g0139 a0001c0019t0006g0055 a0004c0009t0007g0290 a0005c0008t0001g0031 a0005c0008t0002g0083 a0006c0014t0001g0165 a0007c0020t0001g0318	192	334	0.5749	-13	c.952 others(32): Show c.952+24831_952+24843delCCCCACCCTCAAA	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD6_chr15_66697236_66787849	66767959	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	50	0.0200	-13	c.953 others(32): Show c.953-13023_953-13011delTTTTTTTTTTTTT	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD7_chr18_48914853_48955965	48936104	ACACACAC others(6): Show ACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01081.hp2 HG01109.hp1 others(15): Show HG00735.hp2 HG01081.hp2 HG01109.hp1 HG01257.hp2 HG01258.hp2 HG02055.hp2 HG02109.hp2 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02683.hp1 HG02723.hp1 HG02965.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03579.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0027 a0001c0008t0003	a0001c0001t0001g0005 a0001c0001t0001g0097 a0001c0001t0001g0147 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0097 a0001c0001t0001g0147 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0280 a0001c0001t0003g0128 a0001c0001t0003g0129 a0001c0001t0003g0173 a0001c0001t0003g0340 a0001c0001t0004g0034 a0001c0001t0008g0168 a0001c0001t0008g0169 a0001c0001t0008g0170 a0001c0001t0010g0130 a0001c0001t0027g0372 a0001c0008t0003g0321	18	396	0.0455	-13	c.742 others(30): Show c.742+6364_742+6376delGTGTGTGTGTGTG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD9_chr13_36839831_36925238	36905774	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02257.hp2 HG02896.hp1 others(3): Show HG02145.hp2 HG02257.hp2 HG02896.hp1 NA18981.hp2 NA19054.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0011 a0001c0001t0076	a0001c0001t0001g0243 a0001c0001t0001g0283 a0001c0001t0008g0126 others(3): Show a0001c0001t0001g0243 a0001c0001t0001g0283 a0001c0001t0008g0126 a0001c0001t0008g0127 a0001c0001t0011g0263 a0001c0001t0076g0234	6	26	0.2308	-13	c.-18 others(34): Show c.-187+14329_-187+14341delTTTTTTTTTTTTT	SMAD9	ENSG00000120693.15	transcript	ENST00000379826.5	protein_coding	1/6			chr13	TogoVar
SMAGP_chr12_51239558_51275415	51248900	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(158): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00408.hp2 HG00438.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02293.hp2 HG02300.hp2 HG02523.hp1 HG02602.hp2 HG02615.hp1 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18906.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18969.hp1 NA18973.hp2 NA18975.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18992.hp1 NA18993.hp2 NA18999.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19078.hp2 NA19088.hp1 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0026 a0002c0003t0002	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(135): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0042 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0081 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0002g0027 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0205 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0222 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0236 a0001c0001t0002g0238 a0001c0001t0002g0283 a0001c0001t0002g0295 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0307 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0338 a0001c0001t0002g0351 a0001c0001t0002g0352 a0001c0001t0003g0195 a0001c0001t0003g0198 a0001c0001t0003g0204 a0001c0001t0003g0288 a0001c0001t0006g0192 a0001c0001t0006g0223 a0001c0001t0011g0163 a0001c0001t0012g0018 a0001c0001t0012g0115 a0001c0001t0012g0127 a0001c0001t0012g0140 a0001c0001t0015g0247 a0001c0001t0015g0248 a0001c0001t0015g0271 a0001c0001t0015g0296 a0001c0001t0017g0011 a0001c0001t0018g0137 a0001c0001t0018g0138 a0001c0001t0026g0129 a0002c0003t0002g0187	161	174	0.9253	-13	c.35- others(28): Show c.35-2082_35-2070delTTTTTTTTTTTTT	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMAGP_chr12_51239558_51275415	51258984	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02647.hp1 HG02717.hp2 others(3): Show HG02451.hp2 HG02647.hp1 HG02717.hp2 HG02895.hp1 HG03579.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0001t0015 a0001c0002t0013 a0001c0001t0009 a0001c0001t0015 a0001c0002t0013	a0001c0001t0009g0272 a0001c0001t0015g0271 a0001c0002t0013g0269 others(3): Show a0001c0001t0009g0272 a0001c0001t0015g0271 a0001c0002t0013g0269 a0001c0002t0013g0270 a0001c0002t0013g0273 a0001c0002t0013g0282	6	178	0.0337	-13	c.34+ others(30): Show c.34+10248_34+10260delTTTTTTTTTTTTT	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMAP1_chr6_70662883_70867003	70682170	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0254 a0002c0002t0002g0254	1	39	0.0256	-13	c.118 others(32): Show c.118+14053_118+14065delTTTTTTTTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70712779	TTTTTCTT others(6): Show TTTTTCTTTTTTTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02723.hp2 HG03225.hp1 HG02647.hp2 HG02723.hp2 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0175 a0001c0001t0001g0145 a0001c0001t0001g0157 a0001c0001t0001g0175	3	304	0.0099	-13	c.119 others(32): Show c.119-19586_119-19574delCTTTTCTTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70725091	GTGTTTTT others(6): Show GTGTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	285	0.0035	-13	c.119 others(30): Show c.119-7285_119-7273delGTTTTTTTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70725093	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01255.hp1 HG00735.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0096 a0001c0001t0001g0093 a0001c0001t0001g0096	2	6	0.3333	-13	c.119 others(30): Show c.119-7256_119-7244delTTTTTTTTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCA1_chrX_129441506_129528490	129499341	CAAAGAAT others(6): Show CAAAGAATGCTTTT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	277	0.0036	-13	c.127 others(30): Show c.1277+378_1277+390delAAAAGCATTCTTT	SMARCA1	ENSG00000102038.16	transcript	ENST00000371121.5	protein_coding	10/24			chrX	TogoVar
SMARCA2_chr9_2010347_2198620	2060118	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02809.hp1 HG02818.hp2 HG02615.hp1 HG02809.hp1 HG02818.hp2	a0003 a0009 a0003 a0009	a0003c0007 a0003c0029 a0009c0062 a0003c0007 a0003c0029 a0009c0062	a0003c0007t0002 a0003c0029t0001 a0009c0062t0002 a0003c0007t0002 a0003c0029t0001 a0009c0062t0002	a0003c0007t0002g0273 a0003c0029t0001g0315 a0009c0062t0002g0272 a0003c0007t0002g0273 a0003c0029t0001g0315 a0009c0062t0002g0272	3	71	0.0423	-13	c.152 others(30): Show c.1522-678_1522-666delAAAAAAAAAAAAA	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	8/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2155720	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01884.hp1 HG02074.hp1 others(13): Show HG01175.hp2 HG01884.hp1 HG02074.hp1 HG02258.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG03041.hp2 HG03486.hp1 HG03486.hp2 NA18522.hp1 NA18906.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0007	a0001c0001 a0001c0003 a0001c0058 others(9): Show a0001c0001 a0001c0003 a0001c0058 a0002c0002 a0002c0005 a0002c0010 a0003c0007 a0004c0014 a0004c0017 a0005c0020 a0005c0060 a0007c0064	a0001c0001t0001 a0001c0003t0001 a0001c0003t0011 others(12): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0011 a0001c0058t0001 a0002c0002t0001 a0002c0005t0002 a0002c0010t0002 a0003c0007t0001 a0003c0007t0002 a0003c0007t0003 a0004c0014t0002 a0004c0017t0001 a0005c0020t0001 a0005c0060t0001 a0007c0064t0002	a0001c0001t0001g0265 a0001c0003t0001g0070 a0001c0003t0011g0266 others(13): Show a0001c0001t0001g0265 a0001c0003t0001g0070 a0001c0003t0011g0266 a0001c0058t0001g0135 a0002c0002t0001g0168 a0002c0005t0002g0278 a0002c0010t0002g0269 a0003c0007t0001g0067 a0003c0007t0001g0193 a0003c0007t0002g0273 a0003c0007t0003g0264 a0004c0014t0002g0023 a0004c0017t0001g0144 a0005c0020t0001g0252 a0005c0060t0001g0306 a0007c0064t0002g0260	16	52	0.3077	-13	c.398 others(32): Show c.3982-5940_3982-5928delTTTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2156414	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00423.hp1 others(113): Show HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01123.hp1 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01433.hp2 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02109.hp2 HG02165.hp1 HG02165.hp2 HG02523.hp1 HG02523.hp2 HG02615.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG03017.hp1 HG03041.hp2 HG03139.hp1 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03831.hp2 HG03942.hp2 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp2 NA18983.hp1 NA18984.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19002.hp2 NA19005.hp2 NA19043.hp1 NA19058.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp2 NA19088.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20805.hp1 NA20805.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0011 a0014 a0017	a0001c0001 a0001c0003 a0001c0008 others(28): Show a0001c0001 a0001c0003 a0001c0008 a0001c0009 a0001c0043 a0001c0051 a0002c0002 a0002c0004 a0002c0010 a0002c0023 a0002c0047 a0002c0048 a0003c0006 a0003c0007 a0003c0012 a0003c0013 a0004c0011 a0004c0014 a0004c0024 a0005c0059 a0005c0060 a0006c0019 a0006c0028 a0006c0052 a0007c0015 a0008c0067 a0010c0045 a0011c0041 a0011c0053 a0014c0065 a0017c0054	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(40): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0008t0001 a0001c0008t0002 a0001c0009t0001 a0001c0043t0001 a0001c0051t0001 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0010t0001 a0002c0010t0002 a0002c0023t0001 a0002c0047t0001 a0002c0048t0001 a0003c0006t0001 a0003c0006t0002 a0003c0007t0001 a0003c0007t0002 a0003c0012t0002 a0003c0013t0001 a0004c0011t0001 a0004c0011t0017 a0004c0014t0003 a0004c0024t0001 a0005c0059t0002 a0005c0060t0001 a0006c0019t0001 a0006c0028t0001 a0006c0052t0002 a0007c0015t0001 a0007c0015t0002 a0008c0067t0001 a0010c0045t0001 a0011c0041t0001 a0011c0053t0001 a0014c0065t0001 a0017c0054t0001	a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0015 others(113): Show a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0040 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0165 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0203 a0001c0001t0001g0230 a0001c0001t0001g0239 a0001c0001t0001g0265 a0001c0001t0002g0120 a0001c0001t0002g0151 a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0002g0293 a0001c0001t0002g0296 a0001c0001t0007g0077 a0001c0001t0008g0011 a0001c0003t0001g0020 a0001c0003t0001g0132 a0001c0003t0001g0153 a0001c0003t0002g0217 a0001c0003t0002g0248 a0001c0003t0006g0143 a0001c0008t0001g0086 a0001c0008t0002g0247 a0001c0008t0002g0295 a0001c0008t0002g0303 a0001c0009t0001g0048 a0001c0009t0001g0221 a0001c0043t0001g0090 a0001c0051t0001g0242 a0002c0002t0001g0009 a0002c0002t0001g0012 a0002c0002t0001g0032 a0002c0002t0001g0073 a0002c0002t0001g0100 a0002c0002t0001g0109 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0130 a0002c0002t0001g0142 a0002c0002t0001g0168 a0002c0002t0001g0301 a0002c0002t0002g0208 a0002c0002t0002g0289 a0002c0002t0002g0299 a0002c0002t0002g0300 a0002c0004t0001g0037 a0002c0004t0001g0046 a0002c0004t0001g0053 a0002c0004t0001g0054 a0002c0004t0001g0055 a0002c0004t0001g0057 a0002c0004t0001g0061 a0002c0004t0001g0062 a0002c0004t0001g0288 a0002c0010t0001g0138 a0002c0010t0002g0209 a0002c0023t0001g0013 a0002c0047t0001g0141 a0002c0048t0001g0253 a0003c0006t0001g0072 a0003c0006t0001g0146 a0003c0006t0001g0157 a0003c0006t0001g0196 a0003c0006t0001g0233 a0003c0006t0002g0036 a0003c0006t0002g0226 a0003c0007t0001g0084 a0003c0007t0002g0276 a0003c0012t0002g0152 a0003c0012t0002g0292 a0003c0013t0001g0039 a0004c0011t0001g0101 a0004c0011t0017g0129 a0004c0014t0003g0255 a0004c0024t0001g0049 a0004c0024t0001g0052 a0005c0059t0002g0258 a0005c0060t0001g0306 a0006c0019t0001g0014 a0006c0019t0001g0287 a0006c0028t0001g0234 a0006c0052t0002g0244 a0007c0015t0001g0183 a0007c0015t0002g0286 a0008c0067t0001g0027 a0010c0045t0001g0007 a0011c0041t0001g0251 a0011c0053t0001g0166 a0014c0065t0001g0140 a0017c0054t0001g0099	116	128	0.9063	-13	c.398 others(32): Show c.3982-5252_3982-5240delTTTTTTTTTTTTT	SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	27/33		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	11009007	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA19005.hp2 NA20129.hp1 NA18906.hp1 NA19005.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0026 a0001c0001 a0001c0026	a0001c0001t0001 a0001c0026t0001 a0001c0001t0001 a0001c0026t0001	a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0026t0001g0281 a0001c0001t0001g0035 a0001c0001t0001g0047 a0001c0026t0001g0281	3	13	0.2308	-13	c.212 others(32): Show c.2123+1006_2123+1018delTTTTTTTTTTTTT	SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	14/34		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCA5_chr4_143508702_143562486	143533498	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00323.hp1 others(144): Show HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01928.hp1 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18948.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18967.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18975.hp1 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18986.hp1 NA18993.hp2 NA18994.hp2 NA19002.hp2 NA19004.hp2 NA19006.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp2 NA19057.hp1 NA19059.hp2 NA19060.hp2 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19074.hp1 NA19076.hp2 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19084.hp1 NA19085.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0001c0013 others(1): Show a0001c0001 a0001c0009 a0001c0013 a0002c0011	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(15): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0008 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0009t0002 a0001c0013t0005 a0002c0011t0002	a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0007 others(99): Show a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0064 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0089 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0004g0008 a0001c0001t0004g0030 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0034 a0001c0001t0004g0057 a0001c0001t0004g0065 a0001c0001t0004g0092 a0001c0001t0004g0093 a0001c0001t0004g0096 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0101 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0108 a0001c0001t0004g0109 a0001c0001t0004g0110 a0001c0001t0004g0118 a0001c0001t0004g0125 a0001c0001t0005g0006 a0001c0001t0005g0037 a0001c0001t0005g0038 a0001c0001t0005g0075 a0001c0001t0005g0102 a0001c0001t0005g0111 a0001c0001t0005g0113 a0001c0001t0005g0114 a0001c0001t0005g0115 a0001c0001t0005g0116 a0001c0001t0005g0120 a0001c0001t0005g0122 a0001c0001t0005g0127 a0001c0001t0005g0128 a0001c0001t0005g0132 a0001c0001t0008g0026 a0001c0001t0008g0028 a0001c0001t0008g0029 a0001c0001t0008g0066 a0001c0001t0008g0107 a0001c0001t0008g0117 a0001c0001t0008g0134 a0001c0001t0012g0006 a0001c0001t0012g0037 a0001c0001t0012g0060 a0001c0001t0012g0121 a0001c0001t0017g0090 a0001c0001t0017g0091 a0001c0001t0018g0006 a0001c0001t0018g0129 a0001c0001t0019g0112 a0001c0001t0019g0130 a0001c0001t0036g0078 a0001c0001t0037g0061 a0001c0001t0038g0126 a0001c0001t0039g0095 a0001c0001t0040g0036 a0001c0001t0041g0106 a0001c0001t0042g0119 a0001c0009t0002g0024 a0001c0013t0005g0123 a0002c0011t0002g0003	147	252	0.5833	-13	c.115 others(32): Show c.1159-1342_1159-1330delTTTTTTTTTTTTT	SMARCA5	ENSG00000153147.6	transcript	ENST00000283131.4	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCAD1_chr4_94202865_94296292	94232185	ATTATTTA others(6): Show ATTATTTATTTTCT	A A	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0187 a0002c0003t0002g0187	1	320	0.0031	-13	c.369 others(30): Show c.369-1768_369-1756delTTATTTATTTTCT	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	3/23			chr4	TogoVar
SMARCAD1_chr4_94202865_94296292	94254429	TAAATACT others(6): Show TAAATACTTGCCCG	T T	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0283 a0003c0002t0002g0283	1	320	0.0031	-13	c.128 others(32): Show c.1281+1425_1281+1437delATACTTGCCCGAA	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	9/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCAL1_chr2_216407484_216488053	216420035	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	406	0.0025	-13	c.863 others(28): Show c.863-245_863-233delAAAAAAAGAAAAA	SMARCAL1	ENSG00000138375.14	transcript	ENST00000357276.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
SMARCAL1_chr2_216407484_216488053	216474128	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG02451.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0016 a0001c0001t0004g0016	2	163	0.0123	-13	c.224 others(32): Show c.2245-1124_2245-1112delTTTTTTTTTTTTT	SMARCAL1	ENSG00000138375.14	transcript	ENST00000357276.9	protein_coding	14/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
SMARCB1_chr22_23781966_23843009	23798028	TAGACCTG others(6): Show TAGACCTGGAAATG	T T	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02132.hp2 HG02155.hp1 others(8): Show HG02074.hp1 HG02132.hp2 HG02155.hp1 HG03654.hp2 HG03688.hp2 HG03831.hp1 HG03942.hp1 NA18962.hp2 NA19068.hp2 NA19079.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0010 a0001c0001t0029 a0001c0001t0030 others(1): Show a0001c0001t0010 a0001c0001t0029 a0001c0001t0030 a0001c0005t0010	a0001c0001t0010g0307 a0001c0001t0010g0309 a0001c0001t0010g0311 others(8): Show a0001c0001t0010g0307 a0001c0001t0010g0309 a0001c0001t0010g0311 a0001c0001t0010g0313 a0001c0001t0010g0314 a0001c0001t0010g0315 a0001c0001t0010g0316 a0001c0001t0010g0317 a0001c0001t0029g0308 a0001c0001t0030g0312 a0001c0005t0010g0310	11	362	0.0304	-13	c.363 others(30): Show c.363-2912_363-2900delCCTGGAAATGAGA	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCB1_chr22_23781966_23843009	23822986	TTTTTTTT others(6): Show TTTTTTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00735.hp1 HG02055.hp1 others(7): Show HG00544.hp2 HG00735.hp1 HG02055.hp1 HG02257.hp2 HG02897.hp2 NA18747.hp2 NA18942.hp2 NA18948.hp1 NA18949.hp1 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 others(3): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0004t0006	a0001c0001t0005g0239 a0001c0001t0005g0243 a0001c0001t0006g0008 others(7): Show a0001c0001t0005g0239 a0001c0001t0005g0243 a0001c0001t0006g0008 a0001c0001t0006g0083 a0001c0001t0006g0086 a0001c0001t0006g0088 a0001c0001t0011g0013 a0001c0001t0012g0251 a0001c0001t0014g0016 a0001c0004t0006g0078	10	362	0.0276	-13	c.796 others(30): Show c.796-2238_796-2226delTTTTTTTTTTTTG	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	6/8			chr22	TogoVar
SMARCB1_chr22_23781966_23843009	23830649	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02896.hp2 HG02922.hp1 others(2): Show HG01167.hp1 HG02896.hp2 HG02922.hp1 HG03041.hp2 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 others(2): Show a0001c0001t0005 a0001c0001t0011 a0001c0001t0014 a0001c0001t0020 a0001c0001t0035	a0001c0001t0005g0038 a0001c0001t0011g0237 a0001c0001t0014g0297 others(2): Show a0001c0001t0005g0038 a0001c0001t0011g0237 a0001c0001t0014g0297 a0001c0001t0020g0041 a0001c0001t0035g0040	5	30	0.1667	-13	c.987 others(30): Show c.987-2902_987-2890delTTTTTTTTTTTTT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47740178	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0182 a0001c0001t0011g0182	1	43	0.0233	-13	c.402 others(30): Show c.402-2081_402-2069delAAAAAAAAAAAAA	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	3/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47740199	TTTTTTTT others(6): Show TTTTTTTTTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp2 HG01081.hp1 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0185 a0001c0001t0001g0186	2	218	0.0092	-13	c.402 others(30): Show c.402-2102_402-2090delTAAAAAAAAAAAA	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	3/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47778197	AAAAAACA others(6): Show AAAAAACAAAAAAC	A A	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	218	0.0138	-13	c.195 others(30): Show c.195+3393_195+3405delGTTTTTTGTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	1/27			chr3	TogoVar
SMC1A_chrX_53369149_53427654	53389842	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0206 a0001c0001t0002g0206	1	165	0.0061	-13	c.297 others(32): Show c.2973+4923_2973+4935delAAAAAAAAAAAAA	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	19/24			chrX	TogoVar
SMC1A_chrX_53369149_53427654	53401719	GTATATAT others(6): Show GTATATATATACAT	G G	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	211	0.0047	-13	c.242 others(32): Show c.2420+1834_2420+1846delATGTATATATATA	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMC1B_chr22_45339063_45418599	45353908	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01952.hp2 NA18981.hp2 others(7): Show HG01123.hp2 HG01952.hp2 NA18981.hp2 NA18986.hp2 NA18994.hp2 NA18999.hp2 NA19003.hp2 NA19074.hp1 NA19077.hp2 NA19087.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0007 a0002c0001t0002g0114 a0002c0001t0002g0118 others(6): Show a0002c0001t0002g0007 a0002c0001t0002g0114 a0002c0001t0002g0118 a0002c0001t0002g0120 a0002c0001t0002g0129 a0002c0001t0002g0130 a0002c0001t0002g0133 a0002c0001t0002g0134 a0002c0001t0002g0141	10	358	0.0279	-13	c.327 others(28): Show c.3273+57_3273+69delGTTTTTTTTTTTT	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	21/24			chr22	TogoVar
SMC1B_chr22_45339063_45418599	45364824	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp2 others(180): Show HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01109.hp2 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp2 HG01943.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02132.hp2 HG02145.hp2 HG02165.hp2 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18989.hp1 NA18990.hp1 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19063.hp1 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19068.hp2 NA19070.hp2 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp1 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0004 others(9): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0012 a0013 a0015	a0001c0002 a0001c0007 a0001c0010 others(11): Show a0001c0002 a0001c0007 a0001c0010 a0003c0003 a0004c0005 a0005c0006 a0006c0009 a0007c0011 a0008c0012 a0009c0013 a0011c0015 a0012c0020 a0013c0016 a0015c0021	a0001c0002t0001 a0001c0002t0005 a0001c0007t0004 others(14): Show a0001c0002t0001 a0001c0002t0005 a0001c0007t0004 a0001c0010t0001 a0003c0003t0001 a0003c0003t0002 a0004c0005t0001 a0005c0006t0001 a0005c0006t0007 a0006c0009t0001 a0007c0011t0001 a0008c0012t0001 a0009c0013t0001 a0011c0015t0001 a0012c0020t0001 a0013c0016t0001 a0015c0021t0001	a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0012 others(170): Show a0001c0002t0001g0004 a0001c0002t0001g0005 a0001c0002t0001g0012 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0026 a0001c0002t0001g0031 a0001c0002t0001g0040 a0001c0002t0001g0052 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0148 a0001c0002t0001g0156 a0001c0002t0001g0158 a0001c0002t0001g0160 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0163 a0001c0002t0001g0165 a0001c0002t0001g0170 a0001c0002t0001g0171 a0001c0002t0001g0176 a0001c0002t0001g0177 a0001c0002t0001g0178 a0001c0002t0001g0181 a0001c0002t0001g0184 a0001c0002t0001g0185 a0001c0002t0001g0203 a0001c0002t0001g0204 a0001c0002t0001g0205 a0001c0002t0001g0206 a0001c0002t0001g0210 a0001c0002t0001g0211 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0284 a0001c0002t0001g0288 a0001c0002t0001g0296 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0333 a0001c0002t0005g0043 a0001c0002t0005g0044 a0001c0007t0004g0025 a0001c0007t0004g0035 a0001c0007t0004g0036 a0001c0010t0001g0045 a0001c0010t0001g0046 a0001c0010t0001g0047 a0001c0010t0001g0048 a0003c0003t0001g0016 a0003c0003t0001g0194 a0003c0003t0001g0195 a0003c0003t0001g0196 a0003c0003t0001g0197 a0003c0003t0001g0198 a0003c0003t0001g0199 a0003c0003t0001g0200 a0003c0003t0001g0201 a0003c0003t0001g0202 a0003c0003t0001g0207 a0003c0003t0001g0208 a0003c0003t0001g0209 a0003c0003t0001g0244 a0003c0003t0001g0245 a0003c0003t0001g0246 a0003c0003t0001g0248 a0003c0003t0001g0249 a0003c0003t0001g0250 a0003c0003t0001g0251 a0003c0003t0001g0252 a0003c0003t0001g0253 a0003c0003t0001g0254 a0003c0003t0001g0255 a0003c0003t0001g0256 a0003c0003t0001g0257 a0003c0003t0001g0258 a0003c0003t0001g0260 a0003c0003t0001g0261 a0003c0003t0001g0262 a0003c0003t0001g0263 a0003c0003t0001g0265 a0003c0003t0001g0266 a0003c0003t0001g0267 a0003c0003t0001g0268 a0003c0003t0001g0269 a0003c0003t0001g0270 a0003c0003t0001g0271 a0003c0003t0001g0273 a0003c0003t0001g0274 a0003c0003t0001g0275 a0003c0003t0001g0276 a0003c0003t0001g0277 a0003c0003t0001g0278 a0003c0003t0001g0279 a0003c0003t0001g0280 a0003c0003t0001g0281 a0003c0003t0001g0282 a0003c0003t0001g0283 a0003c0003t0001g0285 a0003c0003t0002g0259 a0004c0005t0001g0013 a0004c0005t0001g0023 a0004c0005t0001g0151 a0004c0005t0001g0182 a0004c0005t0001g0186 a0004c0005t0001g0187 a0004c0005t0001g0188 a0004c0005t0001g0189 a0004c0005t0001g0190 a0004c0005t0001g0191 a0004c0005t0001g0192 a0004c0005t0001g0212 a0004c0005t0001g0213 a0004c0005t0001g0214 a0004c0005t0001g0215 a0004c0005t0001g0216 a0004c0005t0001g0217 a0004c0005t0001g0218 a0004c0005t0001g0219 a0004c0005t0001g0234 a0004c0005t0001g0237 a0004c0005t0001g0287 a0005c0006t0001g0157 a0005c0006t0001g0164 a0005c0006t0001g0167 a0005c0006t0001g0168 a0005c0006t0001g0169 a0005c0006t0007g0334 a0006c0009t0001g0001 a0006c0009t0001g0061 a0006c0009t0001g0175 a0007c0011t0001g0027 a0007c0011t0001g0049 a0007c0011t0001g0050 a0007c0011t0001g0051 a0008c0012t0001g0039 a0008c0012t0001g0041 a0008c0012t0001g0042 a0009c0013t0001g0053 a0009c0013t0001g0054 a0011c0015t0001g0173 a0011c0015t0001g0174 a0012c0020t0001g0272 a0013c0016t0001g0221 a0015c0021t0001g0264	183	228	0.8026	-13	c.242 others(32): Show c.2421-1811_2421-1799delAAAAAAAAAAAAA	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	15/24			chr22	TogoVar
SMC1B_chr22_45339063_45418599	45409597	TAAATAAA others(6): Show TAAATAAATAAATA	T T	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02258.hp2 HG02965.hp1 others(3): Show HG01515.hp2 HG02258.hp2 HG02965.hp1 HG02970.hp1 NA18906.hp2 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0007 a0005c0006 a0001c0002 a0001c0007 a0005c0006	a0001c0002t0001 a0001c0007t0001 a0005c0006t0007 a0001c0002t0001 a0001c0007t0001 a0005c0006t0007	a0001c0002t0001g0031 a0001c0007t0001g0024 a0001c0007t0001g0028 others(3): Show a0001c0002t0001g0031 a0001c0007t0001g0024 a0001c0007t0001g0028 a0001c0007t0001g0029 a0001c0007t0001g0030 a0005c0006t0007g0334	6	358	0.0168	-13	c.110 others(28): Show c.110-712_110-700delTATTTATTTATTT	SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	1/24			chr22	TogoVar
SMC4_chr3_160394650_160439953	160409265	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0189 a0001c0001t0014g0189	1	126	0.0079	-13	c.688 others(30): Show c.688-2640_688-2628delAAAAAAAAAAAAA	SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	5/23		INFO_REALIGN_3_PRIME	chr3	TogoVar
SMC5_chr9_70253978_70359873	70309318	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00597.hp2 others(57): Show HG00099.hp2 HG00438.hp2 HG00597.hp2 HG00673.hp1 HG00733.hp1 HG01167.hp2 HG01169.hp2 HG01358.hp1 HG02056.hp1 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02523.hp1 HG02602.hp1 HG03017.hp1 HG03017.hp2 HG03490.hp1 HG03710.hp1 HG03831.hp2 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18943.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18954.hp1 NA18962.hp1 NA18963.hp2 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp2 NA18972.hp1 NA18979.hp2 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18989.hp2 NA18991.hp1 NA18992.hp2 NA18995.hp1 NA18999.hp1 NA19000.hp2 NA19002.hp1 NA19004.hp2 NA19010.hp2 NA19012.hp2 NA19056.hp1 NA19064.hp2 NA19077.hp1 NA19078.hp1 NA19088.hp2 NA19091.hp1	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0011	a0001c0001 a0002c0002 a0008c0014 others(1): Show a0001c0001 a0002c0002 a0008c0014 a0011c0021	a0001c0001t0002 a0002c0002t0001 a0002c0002t0010 others(3): Show a0001c0001t0002 a0002c0002t0001 a0002c0002t0010 a0002c0002t0019 a0008c0014t0001 a0011c0021t0001	a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0278 others(51): Show a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0278 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0109 a0002c0002t0001g0112 a0002c0002t0001g0113 a0002c0002t0001g0308 a0002c0002t0001g0311 a0002c0002t0010g0059 a0002c0002t0019g0048 a0008c0014t0001g0069 a0011c0021t0001g0068	60	79	0.7595	-13	c.157 others(32): Show c.1578+3977_1578+3989delTTTTTTTTTTTTT	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	11/24		INFO_REALIGN_3_PRIME	chr9	TogoVar
SMC5_chr9_70253978_70359873	70316451	CTTAACAG others(6): Show CTTAACAGTAACTT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01081.hp2 others(3): Show HG00099.hp1 HG00323.hp1 HG01081.hp2 HG01106.hp1 HG02145.hp1 NA20805.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0008 a0003c0003t0001 a0003c0003t0008	a0003c0003t0001g0170 a0003c0003t0001g0172 a0003c0003t0001g0173 others(3): Show a0003c0003t0001g0170 a0003c0003t0001g0172 a0003c0003t0001g0173 a0003c0003t0008g0171 a0003c0003t0008g0194 a0003c0003t0008g0196	6	364	0.0165	-13	c.180 others(30): Show c.1806+874_1806+886delTTAACAGTAACTT	SMC5	ENSG00000198887.9	transcript	ENST00000361138.7	protein_coding	13/24			chr9	TogoVar

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