Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SMAD2_chr18_47803957_47935659	47850817	T T	TATTATAT others(4): Show TATTATATATTA	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp1 HG01496.hp1 others(2): Show HG01256.hp1 HG01258.hp1 HG01496.hp1 HG01993.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0202 a0001c0001t0203 others(2): Show a0001c0001t0056 a0001c0001t0202 a0001c0001t0203 a0001c0001t0204 a0001c0001t0210	a0001c0001t0056g0242 a0001c0001t0202g0220 a0001c0001t0203g0233 others(2): Show a0001c0001t0056g0242 a0001c0001t0202g0220 a0001c0001t0203g0233 a0001c0001t0204g0295 a0001c0001t0210g0294	5	310	0.0161	11	c.784 others(26): Show c.784+456_784+457insTAATATATAAT		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10						chr18	TogoVar
SMAD2_chr18_47803957_47935659	47866316	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0244 a0001c0001t0244	a0001c0001t0244g0122 a0001c0001t0244g0122	1	310	0.0032	11	c.656 others(28): Show c.656-1194_656-1184dupTTTTTTTTTTT		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	5/10						chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03453.hp2 NA18971.hp2 others(2): Show HG02976.hp1 HG03453.hp2 NA18971.hp2 NA19056.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0078 a0001c0001t0206 others(1): Show a0001c0001t0001 a0001c0001t0078 a0001c0001t0206 a0001c0001t0207	a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0078g0272 others(2): Show a0001c0001t0001g0263 a0001c0001t0001g0269 a0001c0001t0078g0272 a0001c0001t0206g0117 a0001c0001t0207g0118	5	310	0.0161	11	c.237 others(30): Show c.237-11488_237-11478dupAAAAAAAAAAA		SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10						chr18	TogoVar
SMAD3_chr15_67060602_67200169	67112154	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01167.hp1 HG01169.hp1 others(36): Show HG01070.hp1 HG01167.hp1 HG01169.hp1 HG02027.hp1 HG02109.hp1 HG02132.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp2 HG02723.hp1 HG02886.hp2 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03834.hp1 NA18522.hp2 NA18906.hp2 NA18967.hp1 NA18977.hp2 NA19011.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0038 a0001c0001t0044 a0001c0001t0050 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004	a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0245 others(36): Show a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0245 a0001c0001t0002g0123 a0001c0001t0002g0171 a0001c0001t0002g0228 a0001c0001t0002g0277 a0001c0001t0002g0283 a0001c0001t0003g0118 a0001c0001t0003g0170 a0001c0001t0003g0187 a0001c0001t0003g0192 a0001c0001t0003g0284 a0001c0001t0003g0288 a0001c0001t0003g0308 a0001c0001t0007g0056 a0001c0001t0009g0033 a0001c0001t0009g0035 a0001c0001t0009g0070 a0001c0001t0010g0120 a0001c0001t0010g0174 a0001c0001t0010g0258 a0001c0001t0010g0282 a0001c0001t0010g0306 a0001c0001t0013g0177 a0001c0001t0015g0047 a0001c0001t0017g0071 a0001c0001t0018g0020 a0001c0001t0026g0080 a0001c0001t0026g0081 a0001c0001t0028g0289 a0001c0001t0029g0055 a0001c0001t0038g0068 a0001c0001t0044g0193 a0001c0001t0050g0227 a0001c0002t0001g0076 a0001c0002t0002g0290 a0001c0002t0003g0172 a0001c0002t0004g0293	39	310	0.1258	11	c.206 others(30): Show c.206+45796_206+45806dupTTTTTTTTTTT		SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67177422	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00438.hp1 others(17): Show HG00140.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG00673.hp1 HG01346.hp2 HG02027.hp2 HG02074.hp1 HG02273.hp2 HG02735.hp1 HG02735.hp2 HG02965.hp2 HG03490.hp1 HG03516.hp2 HG03710.hp1 HG04228.hp1 NA18967.hp2 NA18979.hp1 NA18983.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0009 a0001c0001t0011 a0001c0001t0020 a0001c0001t0054 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0150 a0001c0001t0001g0205 a0001c0001t0001g0238 others(17): Show a0001c0001t0001g0150 a0001c0001t0001g0205 a0001c0001t0001g0238 a0001c0001t0001g0243 a0001c0001t0001g0270 a0001c0001t0001g0299 a0001c0001t0002g0215 a0001c0001t0005g0013 a0001c0001t0005g0037 a0001c0001t0005g0059 a0001c0001t0009g0033 a0001c0001t0009g0070 a0001c0001t0011g0085 a0001c0001t0011g0105 a0001c0001t0011g0114 a0001c0001t0011g0142 a0001c0001t0020g0286 a0001c0001t0054g0163 a0001c0002t0001g0239 a0001c0002t0002g0181	20	310	0.0645	11	c.659 others(28): Show c.659-3816_659-3806dupTTTTTTTTTTT		SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67182998	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0282 a0001c0001t0010g0282	1	310	0.0032	11	c.871 others(28): Show c.871+1545_871+1546insTATATATATAT		SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8						chr15	TogoVar
SMAD3_chr15_67060602_67200169	67183000	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0179 a0001c0001t0013g0179	1	310	0.0032	11	c.871 others(28): Show c.871+1547_871+1548insTATATATATAT		SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8						chr15	TogoVar
SMAD3_chr15_67060602_67200169	67183032	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03041.hp1 HG02630.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0008 a0001c0001t0007 a0001c0001t0008	a0001c0001t0007g0056 a0001c0001t0008g0064 a0001c0001t0007g0056 a0001c0001t0008g0064	2	310	0.0065	11	c.871 others(28): Show c.871+1579_871+1580insATATATATATA		SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8						chr15	TogoVar
SMAD4_chr18_51025213_51090042	51062851	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0285 a0001c0001t0011g0285	1	302	0.0033	11	c.956 others(28): Show c.956-2558_956-2548dupTTTTTTTTTTT		SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	8/11					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD5_chr5_136127845_136187733	136183496	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02451.hp2 HG02976.hp1 others(5): Show HG01099.hp2 HG02451.hp2 HG02976.hp1 HG03041.hp2 HG03471.hp1 NA19001.hp2 NA20129.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0029	a0001c0001t0002g0127 a0001c0001t0003g0020 a0001c0001t0003g0057 others(3): Show a0001c0001t0002g0127 a0001c0001t0003g0020 a0001c0001t0003g0057 a0001c0001t0003g0077 a0001c0001t0007g0001 a0001c0001t0029g0065	8	294	0.0272	11	c.60 others(22): Show c.6016_*6017insAAAAAAAAAAA		SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding					764		chr5	TogoVar
SMAD6_chr15_66697236_66787849	66703300	G G	GACCTGAA others(4): Show GACCTGAACATA	frameshift_variant others(1): Show frameshift_variant stop_gained	HIGH	NA18949.hp2 NA18949.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0007 a0011c0010t0007	a0011c0010t0007g0275 a0011c0010t0007g0275	1	336	0.0030	11	c.42_ others(16): Show c.42_43insACCTGAACATA	p.Arg others(4): Show p.Arg15fs	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	1/4	1066/3828	43/1491	15/496			chr15	TogoVar
SMAD6_chr15_66697236_66787849	66710593	G G	GTTATTAC others(4): Show GTTATTACCACT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG01952.hp2 others(27): Show HG00423.hp2 HG00597.hp1 HG01952.hp2 HG02027.hp1 HG02486.hp2 HG02572.hp1 HG02809.hp1 HG03041.hp2 HG03139.hp2 HG03453.hp1 HG03486.hp2 HG03927.hp2 NA18942.hp2 NA18944.hp1 NA18949.hp2 NA18952.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp2 NA18968.hp1 NA18973.hp1 NA18974.hp2 NA18983.hp1 NA18984.hp1 NA18989.hp2 NA18998.hp1 NA19005.hp2 NA19066.hp2 NA19079.hp1 NA21309.hp2	a0001 a0003 a0004 others(3): Show a0001 a0003 a0004 a0009 a0011 a0012	a0001c0001 a0001c0003 a0001c0019 others(5): Show a0001c0001 a0001c0003 a0001c0019 a0003c0004 a0004c0009 a0009c0025 a0011c0010 a0012c0011	a0001c0001t0003 a0001c0001t0007 a0001c0001t0016 others(13): Show a0001c0001t0003 a0001c0001t0007 a0001c0001t0016 a0001c0001t0027 a0001c0001t0028 a0001c0001t0031 a0001c0003t0007 a0001c0003t0009 a0001c0003t0033 a0001c0019t0032 a0003c0004t0007 a0004c0009t0007 a0004c0009t0009 a0009c0025t0001 a0011c0010t0007 a0012c0011t0007	a0001c0001t0003g0270 a0001c0001t0007g0266 a0001c0001t0016g0267 others(27): Show a0001c0001t0003g0270 a0001c0001t0007g0266 a0001c0001t0016g0267 a0001c0001t0016g0268 a0001c0001t0027g0018 a0001c0001t0028g0269 a0001c0001t0031g0265 a0001c0003t0007g0273 a0001c0003t0007g0276 a0001c0003t0007g0279 a0001c0003t0007g0282 a0001c0003t0007g0283 a0001c0003t0007g0284 a0001c0003t0007g0289 a0001c0003t0007g0290 a0001c0003t0009g0271 a0001c0003t0009g0281 a0001c0003t0009g0286 a0001c0003t0009g0287 a0001c0003t0009g0288 a0001c0003t0033g0280 a0001c0019t0032g0274 a0003c0004t0007g0264 a0003c0004t0007g0277 a0003c0004t0007g0278 a0004c0009t0007g0291 a0004c0009t0009g0272 a0009c0025t0001g0319 a0011c0010t0007g0275 a0012c0011t0007g0285	30	336	0.0893	11	c.818 others(28): Show c.818-1074_818-1064dupTTATTACCACT		SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAGP_chr12_51239558_51275415	51252683	G G	GCCCCCCC others(4): Show GCCCCCCCCCCC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG03834.hp1 NA18944.hp2 others(5): Show HG00408.hp1 HG03834.hp1 NA18944.hp2 NA18949.hp2 NA18977.hp1 NA18983.hp2 NA18998.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0025 a0001c0002t0005 others(2): Show a0001c0001t0004 a0001c0001t0025 a0001c0002t0005 a0001c0002t0010 a0001c0002t0014	a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0025g0059 others(5): Show a0001c0001t0004g0018 a0001c0001t0004g0019 a0001c0001t0025g0059 a0001c0002t0005g0026 a0001c0002t0005g0031 a0001c0002t0005g0035 a0001c0002t0010g0029 a0001c0002t0014g0024	8	410	0.0195	11	c.35- others(26): Show c.35-5853_35-5852insGGGGGGGGGGG		SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3						chr12	TogoVar
SMAGP_chr12_51239558_51275415	51268586	T T	TCCTCCCT others(4): Show TCCTCCCTCCTC	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	410	0.0024	11	c.34+ others(24): Show c.34+658_34+659insGAGGAGGGAGG		SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3						chr12	TogoVar
SMAP1_chr6_70662883_70867003	70725093	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	306	0.0033	11	c.119 others(28): Show c.119-7254_119-7244dupTTTTTTTTTTT		SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMAP1_chr6_70662883_70867003	70763106	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	306	0.0033	11	c.338 others(28): Show c.338+8055_338+8065dupTTTTTTTTTTT		SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	3/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCA2_chr9_2010347_2198620	2060118	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0016 a0002c0005t0002g0016	1	316	0.0032	11	c.152 others(28): Show c.1522-676_1522-666dupAAAAAAAAAAA		SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	8/33					INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2088879	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02723.hp2 HG03139.hp1 others(2): Show HG02109.hp2 HG02723.hp2 HG03139.hp1 HG03209.hp1 HG03471.hp1	a0001 a0003 a0006 others(1): Show a0001 a0003 a0006 a0007	a0001c0003 a0003c0007 a0006c0053 others(1): Show a0001c0003 a0003c0007 a0006c0053 a0007c0015	a0001c0003t0006 a0003c0007t0002 a0006c0053t0002 others(1): Show a0001c0003t0006 a0003c0007t0002 a0006c0053t0002 a0007c0015t0002	a0001c0003t0006g0143 a0003c0007t0002g0270 a0003c0007t0002g0276 others(2): Show a0001c0003t0006g0143 a0003c0007t0002g0270 a0003c0007t0002g0276 a0006c0053t0002g0244 a0007c0015t0002g0275	5	316	0.0158	11	c.288 others(28): Show c.2883+271_2883+281dupTTTTTTTTTTT		SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	19/33					INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA2_chr9_2010347_2198620	2176182	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02074.hp1 HG02145.hp1 others(5): Show HG00741.hp2 HG02074.hp1 HG02145.hp1 HG02572.hp1 HG02738.hp2 HG03486.hp1 HG03831.hp1 HG03942.hp1	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0015	a0001c0001 a0001c0003 a0001c0008 others(5): Show a0001c0001 a0001c0003 a0001c0008 a0001c0062 a0002c0005 a0005c0064 a0006c0019 a0015c0039	a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 others(5): Show a0001c0001t0001 a0001c0003t0001 a0001c0008t0001 a0001c0062t0001 a0002c0005t0001 a0005c0064t0001 a0006c0019t0001 a0015c0039t0001	a0001c0001t0001g0161 a0001c0003t0001g0238 a0001c0008t0001g0086 others(5): Show a0001c0001t0001g0161 a0001c0003t0001g0238 a0001c0008t0001g0086 a0001c0062t0001g0135 a0002c0005t0001g0308 a0005c0064t0001g0306 a0006c0019t0001g0014 a0015c0039t0001g0080	8	316	0.0253	11	c.425 others(30): Show c.4254-5378_4254-5368dupTTTTTTTTTTT		SMARCA2	ENSG00000080503.25	transcript	ENST00000349721.8	protein_coding	29/33					INFO_REALIGN_3_PRIME	chr9	TogoVar
SMARCA4_chr19_10956030_11067273	10974690	T T	TATATATA others(4): Show TATATATATATA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03041.hp1 HG02559.hp1 HG03041.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0001 a0001c0009t0001g0002 a0001c0009t0001g0001 a0001c0009t0001g0002	2	286	0.0070	11	c.-31 others(28): Show c.-31-9431_-31-9430insATATATATATA		SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	1/34						chr19	TogoVar
SMARCA4_chr19_10956030_11067273	11061188	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0007 a0001c0033t0001g0007	1	286	0.0035	11	c.491 others(28): Show c.4912-589_4912-579dupAAAAAAAAAAA		SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	34/34					INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCA4_chr19_10956030_11067273	11061204	A A	AAAAAAAT others(4): Show AAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	286	0.0035	11	c.491 others(28): Show c.4912-579_4912-578insAAAAATATATA		SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding	34/34					INFO_REALIGN_3_PRIME	chr19	TogoVar
SMARCA4_chr19_10956030_11067273	11064669	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0025 a0001c0004t0001g0025	1	286	0.0035	11	c.28 others(22): Show c.2853_*2854insTTTTTTTTTTT		SMARCA4	ENSG00000127616.22	transcript	ENST00000344626.10	protein_coding					2397		chr19	TogoVar
SMARCAD1_chr4_94202865_94296292	94235229	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0199 a0002c0003t0003g0199	1	322	0.0031	11	c.537 others(28): Show c.537+1126_537+1136dupTTTTTTTTTTT		SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	4/23					INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCAD1_chr4_94202865_94296292	94275796	C C	CTTTTATT others(4): Show CTTTTATTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0003 a0002c0005t0003	a0002c0005t0003g0144 a0002c0005t0003g0144	1	322	0.0031	11	c.180 others(28): Show c.1809-539_1809-538insATTTTTTTTTT		SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	14/23					INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCAD1_chr4_94202865_94296292	94275796	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0199 a0002c0003t0003g0199	1	322	0.0031	11	c.180 others(28): Show c.1809-535_1809-525dupTTTTTTTTTTT		SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	14/23					INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCAL1_chr2_216407484_216488053	216474128	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02615.hp1 HG02895.hp2 others(1): Show HG02451.hp1 HG02615.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0005 a0001c0001t0001 a0001c0007t0005	a0001c0001t0001g0142 a0001c0001t0001g0221 a0001c0007t0005g0164 others(1): Show a0001c0001t0001g0142 a0001c0001t0001g0221 a0001c0007t0005g0164 a0001c0007t0005g0165	4	408	0.0098	11	c.224 others(30): Show c.2245-1122_2245-1112dupTTTTTTTTTTT		SMARCAL1	ENSG00000138375.14	transcript	ENST00000357276.9	protein_coding	14/17					INFO_REALIGN_3_PRIME	chr2	TogoVar
SMARCB1_chr22_23781966_23843009	23799679	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA18747.hp2 NA18942.hp2 others(3): Show HG00423.hp2 NA18747.hp2 NA18942.hp2 NA18969.hp2 NA19062.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0001t0051 a0001c0006t0006 a0001c0001t0006 a0001c0001t0051 a0001c0006t0006	a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0307 others(3): Show a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0051g0008 a0001c0006t0006g0304	6	363	0.0165	11	c.363 others(28): Show c.363-1252_363-1242dupTTTTTTTTTTT		SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	3/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCB1_chr22_23781966_23843009	23830649	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01175.hp2 NA18942.hp2 others(3): Show HG00544.hp2 HG01175.hp2 NA18942.hp2 NA18981.hp2 NA19056.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0006 a0001c0001t0041 a0001c0006t0006 a0001c0001t0006 a0001c0001t0041 a0001c0006t0006	a0001c0001t0006g0005 a0001c0001t0006g0312 a0001c0001t0006g0313 others(3): Show a0001c0001t0006g0005 a0001c0001t0006g0312 a0001c0001t0006g0313 a0001c0001t0006g0315 a0001c0001t0041g0005 a0001c0006t0006g0304	6	363	0.0165	11	c.987 others(28): Show c.987-2900_987-2890dupTTTTTTTTTTT		SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	7/8					INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47671173	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01081.hp1 HG01169.hp1 others(6): Show HG00735.hp1 HG01081.hp1 HG01169.hp1 HG01257.hp1 HG01258.hp2 HG02015.hp1 HG03471.hp1 NA18747.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 others(6): Show a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0199 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0002g0003 a0001c0001t0005g0187	9	219	0.0411	11	c.184 others(28): Show c.1840-467_1840-457dupTTTTTTTTTTT		SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27						chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47671196	A A	AAAAAAAA others(4): Show AAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG01074.hp2 others(14): Show HG00280.hp2 HG00621.hp1 HG01074.hp2 HG01123.hp1 HG01169.hp2 HG02148.hp2 HG02717.hp1 HG03491.hp1 HG03516.hp2 HG03688.hp2 NA18967.hp1 NA18969.hp2 NA18999.hp2 NA19004.hp1 NA19012.hp1 NA19079.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0001t0002 a0001c0012t0002 a0001c0001t0001 a0001c0001t0002 a0001c0012t0002	a0001c0001t0001g0130 a0001c0001t0002g0083 a0001c0001t0002g0089 others(14): Show a0001c0001t0001g0130 a0001c0001t0002g0083 a0001c0001t0002g0089 a0001c0001t0002g0092 a0001c0001t0002g0101 a0001c0001t0002g0110 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0150 a0001c0001t0002g0160 a0001c0001t0002g0164 a0001c0001t0002g0183 a0001c0012t0002g0088	17	219	0.0776	11	c.184 others(28): Show c.1840-480_1840-479insGTTTTTTTTTT		SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27						chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47740178	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	219	0.0046	11	c.402 others(28): Show c.402-2079_402-2069dupAAAAAAAAAAA		SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	3/27						chr3	TogoVar
SMARCD1_chr12_50080342_50105707	50085289	C C	CGGGCGCT others(4): Show CGGGCGCTCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 NA18981.hp1 HG00438.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0001 a0001c0001t0001g0004	2	366	0.0055	11	c.-81 others(18): Show c.-81_-80insGGGCGCTCGGG		SMARCD1	ENSG00000066117.15	transcript	ENST00000394963.9	protein_coding					52		chr12	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp1 HG00621.hp1 others(20): Show HG00438.hp2 HG00544.hp1 HG00621.hp1 HG00741.hp1 HG01109.hp1 HG01175.hp1 HG01175.hp2 HG01261.hp1 HG01346.hp1 HG02027.hp1 HG02071.hp1 HG02074.hp1 HG02135.hp1 HG02738.hp1 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03704.hp1 HG03831.hp1 NA18747.hp1 NA19060.hp1 NA19082.hp1 NA19085.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0007 a0001c0001 a0002c0007	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(4): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0002c0007t0002	a0001c0001t0002g0149 a0001c0001t0002g0158 a0001c0001t0002g0164 others(20): Show a0001c0001t0002g0149 a0001c0001t0002g0158 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0172 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0200 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0208 a0001c0001t0009g0154 a0001c0001t0009g0173 a0001c0001t0010g0198 a0001c0001t0020g0150 a0001c0001t0021g0206 a0001c0001t0022g0151 a0002c0007t0002g0174	23	213	0.1080	11	c.242 others(28): Show c.2420+687_2420+697dupTTTTTTTTTTT		SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24						chrX	TogoVar
SMC1B_chr22_45339063_45418599	45397995	T T	TGCTGGCA others(4): Show TGCTGGCAGAGG	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0018 a0018	a0018c0016 a0018c0016	a0018c0016t0001 a0018c0016t0001	a0018c0016t0001g0269 a0018c0016t0001g0269	1	360	0.0028	11	c.111 others(30): Show c.1113+1089_1113+1099dupCCTCTGCCAGC		SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	6/24						chr22	TogoVar
SMC1B_chr22_45339063_45418599	45409609	T T	TAAATAAA others(4): Show TAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0288 a0001c0004t0003g0288	1	360	0.0028	11	c.110 others(26): Show c.110-712_110-711insTTTATTTATTT		SMC1B	ENSG00000077935.17	transcript	ENST00000357450.9	protein_coding	1/24						chr22	TogoVar
SMC4_chr3_160394650_160439953	160409265	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18983.hp2 NA18960.hp2 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	2	332	0.0060	11	c.688 others(28): Show c.688-2638_688-2628dupAAAAAAAAAAA		SMC4	ENSG00000113810.16	transcript	ENST00000357388.8	protein_coding	5/23					INFO_REALIGN_3_PRIME	chr3	TogoVar
SMC6_chr2_17658812_17758810	17726087	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01891.hp2 HG02145.hp2 others(8): Show HG01433.hp2 HG01891.hp2 HG02145.hp2 HG02486.hp1 HG02630.hp2 HG02723.hp1 HG03516.hp2 HG03704.hp2 HG06807.hp2 NA18906.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0008 a0002c0003t0001 a0001c0001t0002 a0001c0001t0008 a0002c0003t0001	a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0218 others(8): Show a0001c0001t0002g0211 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0222 a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0229 a0001c0001t0008g0215 a0001c0001t0008g0216 a0002c0003t0001g0133 a0002c0003t0001g0144	11	254	0.0433	11	c.624 others(26): Show c.624+291_624+301dupTTTTTTTTTTT		SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	8/27						chr2	TogoVar
SMCHD1_chr18_2650726_2810017	2679480	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01070.hp1 HG01071.hp2 others(9): Show HG00323.hp2 HG01070.hp1 HG01071.hp2 HG01981.hp2 HG02056.hp2 HG04184.hp1 NA18941.hp1 NA18955.hp1 NA18962.hp1 NA19064.hp1 NA19088.hp1 NA19089.hp1	a0003 a0003	a0003c0003 a0003c0011 a0003c0003 a0003c0011	a0003c0003t0004 a0003c0003t0005 a0003c0003t0006 others(2): Show a0003c0003t0004 a0003c0003t0005 a0003c0003t0006 a0003c0003t0041 a0003c0011t0005	a0003c0003t0004g0112 a0003c0003t0005g0082 a0003c0003t0005g0096 others(9): Show a0003c0003t0004g0112 a0003c0003t0005g0082 a0003c0003t0005g0096 a0003c0003t0005g0097 a0003c0003t0005g0111 a0003c0003t0005g0133 a0003c0003t0005g0134 a0003c0003t0006g0057 a0003c0003t0041g0084 a0003c0011t0005g0146 a0003c0011t0005g0250 a0003c0011t0005g0251	12	340	0.0353	11	c.638 others(28): Show c.638+5344_638+5354dupAAAAAAAAAAA		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2702308	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp2 others(48): Show HG00099.hp2 HG00140.hp2 HG00280.hp2 HG00621.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01168.hp1 HG01255.hp2 HG01258.hp2 HG01433.hp1 HG01433.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG02055.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02486.hp2 HG02630.hp2 HG02683.hp1 HG02735.hp1 HG02886.hp2 HG03239.hp2 HG03491.hp2 HG03579.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG04228.hp1 NA18951.hp1 NA18952.hp2 NA18962.hp2 NA18972.hp2 NA18974.hp2 NA19003.hp1 NA19012.hp1 NA19043.hp1 NA19058.hp1 NA19062.hp2 NA19067.hp1 NA19081.hp1 NA20752.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0015 a0017	a0001c0002 a0001c0004 a0002c0029 others(3): Show a0001c0002 a0001c0004 a0002c0029 a0003c0003 a0015c0022 a0017c0028	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(9): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0015 a0001c0002t0018 a0001c0002t0036 a0001c0002t0037 a0001c0004t0001 a0002c0029t0001 a0003c0003t0005 a0015c0022t0001 a0017c0028t0022	a0001c0002t0001g0176 a0001c0002t0001g0179 a0001c0002t0001g0180 others(48): Show a0001c0002t0001g0176 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0192 a0001c0002t0001g0194 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0208 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0016 a0001c0002t0003g0035 a0001c0002t0003g0161 a0001c0002t0003g0162 a0001c0002t0003g0163 a0001c0002t0003g0164 a0001c0002t0003g0166 a0001c0002t0003g0167 a0001c0002t0003g0168 a0001c0002t0003g0169 a0001c0002t0003g0170 a0001c0002t0003g0171 a0001c0002t0003g0174 a0001c0002t0003g0175 a0001c0002t0003g0183 a0001c0002t0003g0184 a0001c0002t0003g0186 a0001c0002t0003g0188 a0001c0002t0003g0190 a0001c0002t0003g0197 a0001c0002t0003g0199 a0001c0002t0003g0200 a0001c0002t0003g0201 a0001c0002t0003g0202 a0001c0002t0003g0205 a0001c0002t0003g0336 a0001c0002t0003g0337 a0001c0002t0015g0191 a0001c0002t0018g0207 a0001c0002t0036g0206 a0001c0002t0037g0198 a0001c0004t0001g0182 a0001c0004t0001g0189 a0002c0029t0001g0155 a0003c0003t0005g0099 a0015c0022t0001g0193 a0017c0028t0022g0203	51	340	0.1500	11	c.164 others(30): Show c.1648-1384_1648-1383insAAAAAAAAAAG		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	12/47						chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(4): Show TATATATATAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01884.hp1 HG02976.hp1 others(1): Show HG00639.hp2 HG01884.hp1 HG02976.hp1 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0007 a0001c0005 a0001c0007	a0001c0005t0007 a0001c0005t0016 a0001c0005t0026 others(1): Show a0001c0005t0007 a0001c0005t0016 a0001c0005t0026 a0001c0007t0013	a0001c0005t0007g0027 a0001c0005t0016g0032 a0001c0005t0026g0030 others(1): Show a0001c0005t0007g0027 a0001c0005t0016g0032 a0001c0005t0026g0030 a0001c0007t0013g0233	4	340	0.0118	11	c.226 others(28): Show c.2260+988_2260+989insTATATATAAAA		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708908	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01261.hp2 HG02486.hp2 others(2): Show HG01255.hp2 HG01261.hp2 HG02486.hp2 NA18974.hp2 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0012 a0001c0002 a0001c0012	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0012t0003	a0001c0002t0001g0181 a0001c0002t0001g0196 a0001c0002t0002g0156 others(2): Show a0001c0002t0001g0181 a0001c0002t0001g0196 a0001c0002t0002g0156 a0001c0002t0003g0205 a0001c0012t0003g0272	5	340	0.0147	11	c.226 others(28): Show c.2260+988_2260+989insTATATATATAT		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47						chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2759571	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02056.hp1 HG02896.hp2 others(8): Show HG01891.hp1 HG02056.hp1 HG02896.hp2 HG02897.hp1 HG02970.hp2 HG04184.hp2 NA18950.hp1 NA18952.hp1 NA19067.hp2 NA19076.hp1 NA19082.hp2	a0002 a0006 a0018 a0002 a0006 a0018	a0002c0001 a0002c0010 a0002c0016 others(2): Show a0002c0001 a0002c0010 a0002c0016 a0006c0017 a0018c0030	a0002c0001t0001 a0002c0001t0002 a0002c0001t0032 others(4): Show a0002c0001t0001 a0002c0001t0002 a0002c0001t0032 a0002c0010t0001 a0002c0016t0023 a0006c0017t0020 a0018c0030t0001	a0002c0001t0001g0277 a0002c0001t0001g0278 a0002c0001t0001g0319 others(8): Show a0002c0001t0001g0277 a0002c0001t0001g0278 a0002c0001t0001g0319 a0002c0001t0001g0323 a0002c0001t0002g0326 a0002c0001t0032g0309 a0002c0010t0001g0299 a0002c0016t0023g0002 a0002c0016t0023g0003 a0006c0017t0020g0325 a0018c0030t0001g0292	11	340	0.0324	11	c.434 others(30): Show c.4347-1075_4347-1065dupTTTTTTTTTTT		SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	34/47					INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO1_chr3_196501879_196520346	196517104	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0012 a0004c0004t0012	a0004c0004t0012g0158 a0004c0004t0012g0158	1	398	0.0025	11	c.-18 others(22): Show c.-1896_-1895insTTTTTTTTTTT		SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding					1759		chr3	TogoVar
SMG1_chr16_18799860_18931408	18849069	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0151	1	300	0.0033	11	c.562 others(28): Show c.5623+137_5623+147dupTTTTTTTTTTT		SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	36/62						chr16	TogoVar
SMG1_chr16_18799860_18931408	18887508	T T	TTTTTTCC others(4): Show TTTTTTCCTTTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0016 a0001c0004t0016	a0001c0004t0016g0005 a0001c0004t0016g0005	1	300	0.0033	11	c.823 others(28): Show c.823-1843_823-1842insCAAAGGAAAAA		SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	6/62						chr16	TogoVar
SMG1_chr16_18799860_18931408	18887516	C C	CTTTGTTT others(4): Show CTTTGTTTTTTT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01255.hp1 HG01433.hp2 others(7): Show HG01081.hp2 HG01255.hp1 HG01433.hp2 HG01517.hp1 HG02683.hp1 HG02738.hp1 HG02818.hp2 HG03669.hp2 HG04184.hp2 NA20805.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0005 a0001c0002t0033 a0001c0002t0002 a0001c0002t0005 a0001c0002t0033	a0001c0002t0002g0236 a0001c0002t0002g0246 a0001c0002t0002g0253 others(7): Show a0001c0002t0002g0236 a0001c0002t0002g0246 a0001c0002t0002g0253 a0001c0002t0002g0263 a0001c0002t0002g0281 a0001c0002t0002g0282 a0001c0002t0002g0285 a0001c0002t0002g0293 a0001c0002t0005g0243 a0001c0002t0033g0251	10	300	0.0333	11	c.823 others(28): Show c.823-1851_823-1850insAAAAAAACAAA		SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	6/62						chr16	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00609.hp2 others(44): Show HG00099.hp2 HG00140.hp2 HG00609.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01496.hp2 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG02027.hp1 HG02109.hp2 HG02145.hp1 HG02273.hp1 HG02647.hp1 HG02717.hp2 HG02735.hp2 HG02965.hp2 HG03017.hp1 HG03195.hp1 HG03239.hp1 HG03490.hp1 HG03654.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp2 NA18971.hp1 NA18977.hp2 NA18983.hp2 NA19084.hp2 NA20752.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(4): Show a0002 a0003 a0004 a0005 a0008 a0010 a0013	a0002c0002 a0003c0003 a0004c0004 others(5): Show a0002c0002 a0003c0003 a0004c0004 a0005c0006 a0005c0013 a0008c0009 a0010c0011 a0013c0034	a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 others(10): Show a0002c0002t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0015 a0003c0003t0017 a0003c0003t0019 a0004c0004t0008 a0005c0006t0004 a0005c0013t0001 a0008c0009t0001 a0010c0011t0010 a0013c0034t0002	a0002c0002t0001g0030 a0002c0002t0001g0094 a0003c0003t0001g0001 others(44): Show a0002c0002t0001g0030 a0002c0002t0001g0094 a0003c0003t0001g0001 a0003c0003t0001g0141 a0003c0003t0001g0142 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0152 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0171 a0003c0003t0001g0174 a0003c0003t0001g0175 a0003c0003t0001g0183 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0002g0143 a0003c0003t0002g0153 a0003c0003t0002g0160 a0003c0003t0002g0170 a0003c0003t0002g0173 a0003c0003t0002g0179 a0003c0003t0002g0180 a0003c0003t0002g0181 a0003c0003t0005g0154 a0003c0003t0005g0166 a0003c0003t0005g0169 a0003c0003t0005g0176 a0003c0003t0015g0178 a0003c0003t0017g0182 a0003c0003t0019g0172 a0004c0004t0008g0054 a0005c0006t0004g0021 a0005c0006t0004g0022 a0005c0013t0001g0007 a0008c0009t0001g0184 a0008c0009t0001g0185 a0008c0009t0001g0186 a0010c0011t0010g0276 a0010c0011t0010g0277 a0010c0011t0010g0278 a0013c0034t0002g0098	47	278	0.1691	11	c.335 others(32): Show c.3357+42381_3357+42391dupTTTTTTTTTTT		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18						chr17	TogoVar
SMG6_chr17_2054843_2308785	2184960	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02083.hp2 NA20752.hp2 HG00621.hp1 HG02083.hp2 NA20752.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0004 a0006c0005t0007 a0006c0005t0011 a0006c0005t0004 a0006c0005t0007 a0006c0005t0011	a0006c0005t0004g0121 a0006c0005t0007g0117 a0006c0005t0011g0122 a0006c0005t0004g0121 a0006c0005t0007g0117 a0006c0005t0011g0122	3	278	0.0108	11	c.315 others(30): Show c.3155+1692_3155+1702dupTTTTTTTTTTT		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	12/18						chr17	TogoVar
SMG6_chr17_2054843_2308785	2222549	C C	CGGGGGGG others(4): Show CGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0203 a0001c0001t0003g0203	1	278	0.0036	11	c.286 others(32): Show c.2869+13932_2869+13942dupCCCCCCCCCCC		SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18						chr17	TogoVar

Search by Variant

Search

Search Results