Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMIM3_chr5_150773757_150801734	150797319	T T	TATATATA others(4): Show TATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0082	1	399	0.0025	11	c.16 others(22): Show c.1696_*1697insATATATATATA	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		586		chr5	TogoVar
SMIM40_chr6_33318628_33334279	33324882	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	47	0.0213	11	c.40 others(26): Show c.40-863_*40-853dupTTTTTTTTTTT	SMIM40	ENSG00000286920.2	transcript	ENST00000494082.3	protein_coding	1/2			chr6	TogoVar
SMIM46_chr19_14107324_14117476	14109961	A A	ATATATAT others(4): Show ATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	331	0.0030	11	c.23 others(22): Show c.2362_*2363insATATATATATA	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2362		chr19	TogoVar
SMIM46_chr19_14107324_14117476	14109963	A A	ATATATAT others(4): Show ATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	287	0.0035	11	c.23 others(22): Show c.2360_*2361insATATATATATA	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2360		chr19	TogoVar
SMIM46_chr19_14107324_14117476	14109965	A A	ATATATAT others(4): Show ATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	172	0.0058	11	c.23 others(22): Show c.2358_*2359insATATATATATA	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2358		chr19	TogoVar
SMIM47_chr19_50780728_50791160	50782542	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00597.hp1 HG00673.hp1 others(31): Show HG00544.hp2 HG00597.hp1 HG00673.hp1 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01099.hp1 HG01167.hp1 HG01261.hp2 HG01433.hp1 HG01975.hp2 HG02056.hp1 HG02074.hp2 HG02293.hp1 HG02647.hp1 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03669.hp2 HG03688.hp1 HG03831.hp2 HG04184.hp2 HG04204.hp2 NA18941.hp2 NA18962.hp2 NA18975.hp2 NA18993.hp1 NA18995.hp2 NA19030.hp1 NA19077.hp2 NA19080.hp1 NA19087.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	34	103	0.3301	11	c.32 others(22): Show c.3269_*3270insAAAAAAAAAAA	SMIM47	ENSG00000261341.7	transcript	ENST00000562076.2	protein_coding		3185		chr19	TogoVar
SMIM8_chr6_87317588_87347329	87345916	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02622.hp1 HG03139.hp1 others(5): Show HG01192.hp2 HG02622.hp1 HG03139.hp1 HG03486.hp1 HG03516.hp1 HG03688.hp1 HG03942.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0013 a0001c0001t0002 a0001c0001t0008 a0001c0001t0013	a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0068 others(3): Show a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0068 a0001c0001t0002g0215 a0001c0001t0008g0208 a0001c0001t0013g0029	8	223	0.0359	11	c.56 others(22): Show c.5642_*5643insAAAAAAAAAAA	SMIM8	ENSG00000111850.11	transcript	ENST00000392863.6	protein_coding		3588		chr6	TogoVar
SMKR1_chr7_129497531_129517918	129499488	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG01993.hp1 others(12): Show HG00423.hp1 HG00639.hp2 HG01993.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02886.hp1 HG03209.hp1 HG03453.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03831.hp2 NA18612.hp1 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0019 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0002g0004 a0001c0001t0002g0006	15	49	0.3061	11	c.-33 others(22): Show c.-3337_-3336insTTTTTTTTTTT	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		3042		chr7	TogoVar
SMOC1_chr14_69874416_70037366	69883889	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02809.hp1 HG02258.hp2 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0033 a0001c0001t0001 a0001c0001t0033	a0001c0001t0001g0042 a0001c0001t0033g0043 a0001c0001t0001g0042 a0001c0001t0033g0043	2	15	0.1333	11	c.99+ others(26): Show c.99+4130_99+4140dupTTTTTTTTTTT	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168523079	A A	ATTCTTTT others(4): Show ATTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01346.hp1 HG02572.hp2 others(9): Show HG01243.hp1 HG01346.hp1 HG02572.hp2 HG03195.hp2 NA18941.hp2 NA18951.hp1 NA18963.hp1 NA19000.hp1 NA19030.hp1 NA19088.hp1 NA19088.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0002t0002 a0001c0004t0005 a0001c0001t0001 a0001c0002t0002 a0001c0004t0005	a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0156 others(9): Show a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0156 a0001c0001t0001g0168 a0001c0002t0002g0019 a0001c0002t0002g0021 a0001c0002t0002g0031 a0001c0002t0002g0052 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0180 a0001c0004t0005g0051	12	40	0.3000	11	c.257 others(28): Show c.257-3265_257-3264insCTTTTTTTTTT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168664384	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0010 a0004c0012t0010	a0004c0012t0010g0076 a0004c0012t0010g0076	1	14	0.0714	11	c.132 others(28): Show c.1323+295_1323+305dupTTTTTTTTTTT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMO_chr7_129183633_129218545	129193781	A A	ATATATAT others(4): Show ATATATATATAT	intron_variant intron_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	368	0.0027	11	c.331 others(28): Show c.331+4299_331+4300insTATATATATAT	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11			chr7	TogoVar
SMO_chr7_129183633_129218545	129193785	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG01123.hp1 NA18995.hp1 HG00140.hp1 HG01123.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0002 a0001c0005t0013 a0001c0001t0001 a0001c0002t0002 a0001c0005t0013	a0001c0001t0001g0088 a0001c0002t0002g0017 a0001c0005t0013g0162 a0001c0001t0001g0088 a0001c0002t0002g0017 a0001c0005t0013g0162	3	230	0.0130	11	c.331 others(28): Show c.331+4304_331+4305insAAATATATATA	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMPD4_chr2_130146408_130186602	130170458	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02145.hp1 others(11): Show HG01884.hp1 HG01891.hp1 HG02145.hp1 HG02572.hp1 HG02723.hp1 HG02897.hp2 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG06807.hp2 NA18522.hp1 NA19043.hp2 NA19240.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0042 others(7): Show a0001c0001t0003g0009 a0001c0001t0003g0025 a0001c0001t0003g0042 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0116 a0001c0001t0003g0123 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0126	14	155	0.0903	11	c.659 others(28): Show c.659+1880_659+1890dupTTTTTTTTTTT	SMPD4	ENSG00000136699.20	transcript	ENST00000680298.1	protein_coding	8/19			chr2	TogoVar
SMS_chrX_21935709_21999837	21944544	A A	AAAAAAGA others(4): Show AAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	247	0.0040	11	c.49+ others(26): Show c.49+3672_49+3673insAAAAGAAAAGA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21948439	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp2 HG01070.hp2 others(10): Show HG00735.hp1 HG00735.hp2 HG01070.hp2 HG01081.hp1 HG01167.hp1 HG01433.hp1 HG01516.hp2 HG02257.hp1 HG02486.hp1 HG02886.hp2 HG04184.hp2 NA18943.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0142 others(10): Show a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0142 a0001c0001t0001g0148 a0001c0001t0002g0191 a0001c0001t0003g0007 a0001c0001t0003g0154 a0001c0001t0004g0068 a0001c0001t0004g0069 a0001c0001t0004g0073 a0001c0001t0004g0076 a0001c0001t0004g0104 a0001c0001t0004g0106	13	103	0.1262	11	c.49+ others(26): Show c.49+7573_49+7583dupTTTTTTTTTTT	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21980429	A A	AAAAAAAT others(4): Show AAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01069.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0157 a0001c0001t0002g0158	2	103	0.0194	11	c.750 others(28): Show c.750+1464_750+1465insAAAAATATATA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21980429	A A	AAAAATAT others(4): Show AAAAATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00639.hp2 HG01261.hp1 others(22): Show HG00558.hp2 HG00639.hp2 HG01261.hp1 HG01361.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02155.hp2 HG02165.hp1 HG02735.hp1 HG02818.hp2 HG04228.hp1 NA18943.hp1 NA18947.hp2 NA18951.hp1 NA18960.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp2 NA18982.hp1 NA18992.hp2 NA19010.hp1 NA19063.hp1 NA19065.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0001t0001 a0001c0001t0002 a0001c0001t0008	a0001c0001t0001g0030 a0001c0001t0001g0072 a0001c0001t0001g0089 others(22): Show a0001c0001t0001g0030 a0001c0001t0001g0072 a0001c0001t0001g0089 a0001c0001t0001g0187 a0001c0001t0001g0222 a0001c0001t0001g0234 a0001c0001t0002g0035 a0001c0001t0002g0134 a0001c0001t0002g0179 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0185 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0008g0190	25	126	0.1984	11	c.750 others(28): Show c.750+1464_750+1465insAAATATATATA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21980429	A A	AAATATAT others(4): Show AAATATATATAT	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	102	0.0098	11	c.750 others(28): Show c.750+1464_750+1465insATATATATATA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMTNL2_chr17_4579529_4613319	4594480	T T	TAAATGAA others(4): Show TAAATGAATAAC	intron_variant intron_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0069 a0001c0002t0002g0069	1	440	0.0023	11	c.806 others(26): Show c.806+583_806+584insAAATGAATAAC	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	4/7			chr17	TogoVar
SMTNL2_chr17_4579529_4613319	4607942	G G	GAACCGCT others(4): Show GAACCGCTAGCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0171 a0001c0003t0011g0171	1	440	0.0023	11	c.45 others(20): Show c.455_*456insAACCGCTAGCT	SMTNL2	ENSG00000188176.12	transcript	ENST00000389313.9	protein_coding	8/8	456		chr17	TogoVar
SMTN_chr22_31076318_31109624	31078855	G G	GATCATGC others(4): Show GATCATGCGACT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00438.hp2 others(57): Show HG00408.hp1 HG00423.hp2 HG00438.hp2 HG00558.hp1 HG00621.hp2 HG00673.hp2 HG00741.hp2 HG01168.hp1 HG01169.hp1 HG01952.hp1 HG01978.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02056.hp1 HG02074.hp1 HG02083.hp1 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02165.hp1 HG02818.hp1 NA18939.hp1 NA18942.hp1 NA18944.hp2 NA18947.hp2 NA18952.hp1 NA18956.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18999.hp1 NA19002.hp2 NA19005.hp1 NA19007.hp2 NA19010.hp2 NA19057.hp1 NA19058.hp1 NA19060.hp2 NA19065.hp2 NA19068.hp1 NA19074.hp2 NA19079.hp1 NA19081.hp2 NA19082.hp1 NA19085.hp1 NA19089.hp1 NA19090.hp1 NA19091.hp2	a0001 a0005 a0016 a0001 a0005 a0016	a0001c0001 a0005c0005 a0016c0016 a0001c0001 a0005c0005 a0016c0016	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0011 a0005c0005t0001 a0016c0016t0001	a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 others(28): Show a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0080 a0001c0001t0001g0114 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0002g0001 a0001c0001t0007g0025 a0001c0001t0007g0137 a0001c0001t0011g0045 a0005c0005t0001g0004 a0016c0016t0001g0172	60	360	0.1667	11	c.-26 others(22): Show c.-2682_-2681insATCATGCGACT	SMTN	ENSG00000183963.19	transcript	ENST00000333137.12	protein_coding		2462		chr22	TogoVar
SMU1_chr9_33036765_33081674	33052681	T T	TTGCAGGT others(4): Show TTGCAGGTTTTC	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0006 a0001c0004t0006	a0001c0004t0006g0115 a0001c0004t0006g0115	1	416	0.0024	11	c.129 others(28): Show c.1290+431_1290+441dupGAAAACCTGCA	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding	10/11			chr9	TogoVar
SMU1_chr9_33036765_33081674	33066505	T T	TAAAAAAA others(4): Show TAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0182 a0001c0001t0020g0182	1	4	0.2500	11	c.501 others(28): Show c.501+2308_501+2318dupTTTTTTTTTTT	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding	4/11			chr9	TogoVar
SMURF2_chr17_64537282_64667307	64566561	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0019 a0001c0001t0007g0019	1	42	0.0238	11	c.101 others(30): Show c.1017-3606_1017-3596dupAAAAAAAAAAA	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	10/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64631281	G G	GAGAGAGA others(4): Show GAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0005 a0001c0002t0004g0005	1	67	0.0149	11	c.53- others(28): Show c.53-24642_53-24641insTCTCTCTCTCT	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64637923	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03209.hp2 HG02615.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0027 a0001c0003t0003 a0001c0001t0027 a0001c0003t0003	a0001c0001t0027g0144 a0001c0003t0003g0143 a0001c0001t0027g0144 a0001c0003t0003g0143	2	65	0.0308	11	c.52+ others(28): Show c.52+23895_52+23905dupTTTTTTTTTTT	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18			chr17	TogoVar
SMYD1_chr2_88062825_88118384	88065209	T T	TCCCCTCC others(4): Show TCCCCTCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0154 a0001c0005t0002g0154	1	335	0.0030	11	c.-26 others(22): Show c.-2656_-2655insCCCCTCCCCTC	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2615		chr2	TogoVar
SMYD1_chr2_88062825_88118384	88065219	T T	TCCCCTCC others(4): Show TCCCCTCCCCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19085.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0214 a0001c0001t0002g0214	1	307	0.0033	11	c.-26 others(22): Show c.-2646_-2645insCCCCTCCCCTC	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2605		chr2	TogoVar
SMYD1_chr2_88062825_88118384	88065222	C C	CCTCCCCC others(4): Show CCTCCCCCCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 NA19005.hp1 HG00423.hp1 NA19005.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0003t0003 a0001c0002t0001 a0001c0003t0003	a0001c0002t0001g0053 a0001c0003t0003g0220 a0001c0002t0001g0053 a0001c0003t0003g0220	2	285	0.0070	11	c.-26 others(22): Show c.-2643_-2642insCTCCCCCCCCT	SMYD1	ENSG00000115593.15	transcript	ENST00000419482.7	protein_coding		2602		chr2	TogoVar
SMYD3_chr1_245744347_246512279	245806916	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA18965.hp2 HG01934.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0058 a0001c0001t0002g0004 a0001c0001t0001g0058 a0001c0001t0002g0004	2	39	0.0513	11	c.107 others(32): Show c.1077-42778_1077-42768dupTTTTTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245812700	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00735.hp1 others(14): Show HG00423.hp2 HG00544.hp1 HG00735.hp1 HG01081.hp2 HG01952.hp2 HG01981.hp1 HG02004.hp1 HG03831.hp2 HG04115.hp1 NA18522.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp1 NA18971.hp1 NA18984.hp2 NA19086.hp1 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0012 others(2): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0012t0002 a0002c0003t0002 a0002c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0080 a0001c0001t0001g0089 a0001c0001t0002g0021 a0001c0001t0002g0049 a0001c0001t0002g0059 a0001c0002t0001g0027 a0001c0002t0001g0034 a0001c0002t0001g0036 a0001c0002t0002g0041 a0001c0012t0002g0057 a0002c0003t0002g0102 a0002c0003t0002g0129 a0002c0004t0001g0098	17	123	0.1382	11	c.107 others(32): Show c.1076+45795_1076+45796insTTTTTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245850972	A A	AGCTCCAA others(4): Show AGCTCCAAGAAT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	92	0.0109	11	c.107 others(30): Show c.1076+7523_1076+7524insATTCTTGGAGC	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246102755	A A	AATAATAA others(4): Show AATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0128 a0002c0004t0001g0128	1	81	0.0123	11	c.532 others(32): Show c.532-172819_532-172818insATTATTATTAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246125075	A A	ACACACAC others(4): Show ACACACACACAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	129	0.0078	11	c.532 others(32): Show c.532-195139_532-195138insGTGTGTGTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246178325	C C	CTTTTCAG others(4): Show CTTTTCAGAGAT	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02145.hp2 HG02451.hp1 others(3): Show HG01981.hp2 HG02145.hp2 HG02451.hp1 HG02486.hp2 HG03225.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004	a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 others(2): Show a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 a0002c0003t0001 a0002c0004t0001	a0001c0001t0002g0063 a0001c0002t0001g0012 a0001c0006t0001g0060 others(3): Show a0001c0001t0002g0063 a0001c0002t0001g0012 a0001c0006t0001g0060 a0002c0003t0001g0108 a0002c0003t0001g0126 a0002c0004t0001g0134	6	150	0.0400	11	c.531 others(32): Show c.531+148875_531+148876insATCTCTGAAAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246245120	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03225.hp2 NA18522.hp2 HG02486.hp1 HG03225.hp2 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0105 a0002c0003t0002g0129 a0002c0003t0002g0150 a0002c0003t0001g0105 a0002c0003t0002g0129 a0002c0003t0002g0150	3	47	0.0638	11	c.531 others(30): Show c.531+82070_531+82080dupAAAAAAAAAAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246273135	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02717.hp2 HG03225.hp2 HG02615.hp1 HG02717.hp2 HG03225.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0003 a0001c0006 a0002c0003	a0001c0006t0001 a0002c0003t0002 a0001c0006t0001 a0002c0003t0002	a0001c0006t0001g0068 a0002c0003t0002g0147 a0002c0003t0002g0150 a0001c0006t0001g0068 a0002c0003t0002g0147 a0002c0003t0002g0150	3	49	0.0612	11	c.531 others(30): Show c.531+54055_531+54065dupAAAAAAAAAAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246273154	T T	TTTTTTTT others(4): Show TTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	147	0.0068	11	c.531 others(30): Show c.531+54046_531+54047insGAAAAAAAAAA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246282305	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0147 a0002c0003t0002g0147	1	8	0.1250	11	c.531 others(30): Show c.531+44885_531+44895dupTTTTTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	5/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246391442	A A	AAAAGGAG others(4): Show AAAAGGAGAGGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG00621.hp2 others(11): Show HG00423.hp2 HG00544.hp1 HG00621.hp2 HG01981.hp2 HG02015.hp2 HG02056.hp1 HG02602.hp1 HG03017.hp1 HG03491.hp1 HG04228.hp1 NA18971.hp2 NA18984.hp1 NA18984.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0011 others(1): Show a0001c0001 a0001c0002 a0001c0011 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0011t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0031 others(11): Show a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0031 a0001c0001t0001g0047 a0001c0001t0002g0033 a0001c0001t0002g0085 a0001c0002t0001g0012 a0001c0002t0001g0056 a0001c0002t0002g0041 a0001c0011t0002g0018 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0109 a0002c0003t0002g0104	14	150	0.0933	11	c.165 others(30): Show c.165-36349_165-36348insCCCTCTCCTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD4_chr17_1774485_1834902	1789764	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0013 a0013	a0013c0011 a0013c0011	a0013c0011t0018 a0013c0011t0018	a0013c0011t0018g0036 a0013c0011t0018g0036	1	189	0.0053	11	c.153 others(30): Show c.1538-2171_1538-2161dupTTTTTTTTTTT	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SMYD4_chr17_1774485_1834902	1789764	C C	CCAAAAAA others(4): Show CCAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0046 a0003c0003t0004g0046	1	189	0.0053	11	c.153 others(30): Show c.1538-2161_1538-2160insTTTTTTTTTTG	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SMYD4_chr17_1774485_1834902	1791990	A A	AATGCCAT others(4): Show AATGCCATCAGG	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0001 a0009c0009t0001	a0009c0009t0001g0099 a0009c0009t0001g0099	1	388	0.0026	11	c.153 others(30): Show c.1538-4397_1538-4387dupCCTGATGGCAT	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SMYD4_chr17_1774485_1834902	1795747	G G	GTTTTTTT others(4): Show GTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03516.hp1 HG04184.hp2 others(1): Show HG02615.hp1 HG03516.hp1 HG04184.hp2 HG04204.hp2	a0002 a0006 a0008 a0002 a0006 a0008	a0002c0002 a0006c0005 a0008c0008 a0002c0002 a0006c0005 a0008c0008	a0002c0002t0008 a0006c0005t0014 a0008c0008t0002 a0002c0002t0008 a0006c0005t0014 a0008c0008t0002	a0002c0002t0008g0263 a0006c0005t0014g0344 a0008c0008t0002g0360 others(1): Show a0002c0002t0008g0263 a0006c0005t0014g0344 a0008c0008t0002g0360 a0008c0008t0002g0363	4	141	0.0284	11	c.153 others(30): Show c.1537+4099_1537+4109dupAAAAAAAAAAA	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding	5/10			chr17	TogoVar
SNAI1_chr20_49977980_49993886	49991714	C C	CAAAAAAA others(4): Show CAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 NA19030.hp2 NA19043.hp1 HG02698.hp2 NA19030.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0002 a0003c0003t0007 a0001c0001t0001 a0002c0002t0002 a0003c0003t0007	a0001c0001t0001g0001 a0002c0002t0002g0021 a0003c0003t0007g0005 a0001c0001t0001g0001 a0002c0002t0002g0021 a0003c0003t0007g0005	3	43	0.0698	11	c.36 others(22): Show c.3658_*3659insAAAAAAAAAAA	SNAI1	ENSG00000124216.4	transcript	ENST00000244050.3	protein_coding		2829		chr20	TogoVar
SNAI3_chr16_88672688_88691507	88679775	A A	AAAAAAAA others(4): Show AAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02148.hp1 NA18997.hp1 NA19005.hp1 HG02148.hp1 NA18997.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0229 a0001c0001t0003g0232 a0001c0001t0003g0235 a0001c0001t0003g0229 a0001c0001t0003g0232 a0001c0001t0003g0235	3	28	0.1071	11	c.698 others(28): Show c.698-1147_698-1146insCTTTTTTTTTT	SNAI3	ENSG00000185669.6	transcript	ENST00000332281.6	protein_coding	2/2			chr16	TogoVar
SNAI3_chr16_88672688_88691507	88682762	A A	ATTTTTTT others(4): Show ATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01109.hp1 HG01515.hp2 HG00544.hp2 HG01109.hp1 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0024 a0001c0001t0003g0213 a0001c0001t0003g0024 a0001c0001t0003g0213	3	50	0.0600	11	c.77- others(26): Show c.77-1059_77-1049dupAAAAAAAAAAA	SNAI3	ENSG00000185669.6	transcript	ENST00000332281.6	protein_coding	1/2			chr16	TogoVar
SNAP23_chr15_42490634_42538058	42525451	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01258.hp1 HG01981.hp1 HG01258.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0151 a0001c0002t0003g0235 a0001c0001t0001g0151 a0001c0002t0003g0235	2	69	0.0290	11	c.267 others(28): Show c.267-2791_267-2781dupTTTTTTTTTTT	SNAP23	ENSG00000092531.10	transcript	ENST00000249647.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
SNAP25_chr20_10213830_10312418	10264918	C C	CTTTTTTT others(4): Show CTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0289 a0001c0001t0005g0289	1	305	0.0033	11	c.-63 others(30): Show c.-63-10502_-63-10492dupTTTTTTTTTTT	SNAP25	ENSG00000132639.15	transcript	ENST00000254976.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar

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