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
SLIT3_chr5_168656740_169306139	168798220	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02451.hp1 HG02965.hp2 others(1): Show HG00639.hp1 HG02451.hp1 HG02965.hp2 HG02976.hp2	a0001 a0001	a0001c0015 a0001c0017 a0001c0032 others(1): Show a0001c0015 a0001c0017 a0001c0032 a0001c0042	a0001c0015t0016 a0001c0017t0001 a0001c0032t0001 others(1): Show a0001c0015t0016 a0001c0017t0001 a0001c0032t0001 a0001c0042t0032	a0001c0015t0016g0089 a0001c0017t0001g0062 a0001c0032t0001g0048 others(1): Show a0001c0015t0016g0089 a0001c0017t0001g0062 a0001c0032t0001g0048 a0001c0042t0032g0130	4	48	0.0833	25	c.936 others(42): Show c.936-2643_936-2642insAAAAAAAAAAAAAAAAAAAAAAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	9/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168967437	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01496.hp2 HG02055.hp1 others(8): Show HG01192.hp2 HG01496.hp2 HG02055.hp1 HG02109.hp1 HG02145.hp1 HG03209.hp2 HG03834.hp1 HG03927.hp2 NA18974.hp2 NA19012.hp2 NA19030.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0013 a0015	a0001c0001 a0001c0009 a0001c0026 others(7): Show a0001c0001 a0001c0009 a0001c0026 a0001c0038 a0001c0059 a0003c0033 a0003c0057 a0006c0034 a0013c0027 a0015c0028	a0001c0001t0001 a0001c0009t0001 a0001c0026t0004 others(7): Show a0001c0001t0001 a0001c0009t0001 a0001c0026t0004 a0001c0038t0011 a0001c0059t0004 a0003c0033t0007 a0003c0057t0017 a0006c0034t0012 a0013c0027t0010 a0015c0028t0006	a0001c0001t0001g0019 a0001c0001t0001g0081 a0001c0009t0001g0059 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0081 a0001c0009t0001g0059 a0001c0026t0004g0067 a0001c0038t0011g0066 a0001c0059t0004g0027 a0003c0033t0007g0108 a0003c0057t0017g0096 a0006c0034t0012g0046 a0013c0027t0010g0125 a0015c0028t0006g0014	11	20	0.5500	25	c.414 others(44): Show c.414-84102_414-84101insAAAAAAAAAAAAAAAAAAAAAAAAA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLITRK2_chrX_145812829_145834856	145817749	C C	CCCTCCCT others(18): Show CCCTCCCTCCTCCCTCCTCCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0061 a0001c0004t0018g0061	1	8	0.1250	25	c.-10 others(36): Show c.-1070_-1069insCCTCCCTCCTCCCTCCTCCCTCCCT	SLITRK2	ENSG00000185985.11	transcript	ENST00000335565.6	protein_coding		79		chrX	TogoVar
SLITRK3_chr3_165181720_165201384	165196927	C C	CTCTCTCT others(18): Show CTCTCTCTCTCTCTCTCTCTCTCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 NA19065.hp1 HG02165.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	2	390	0.0051	25	c.-13 others(36): Show c.-1370_-1369insAGAGAGAGAGAGAGAGAGAGAGAGA	SLITRK3	ENSG00000121871.4	transcript	ENST00000475390.2	protein_coding		544		chr3	TogoVar
SLITRK4_chrX_143617790_143641101	143639947	C C	CAAAATAA others(18): Show CAAAATAAAATAAAATAAAATAAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0040 a0001c0001t0040	a0001c0001t0040g0191 a0001c0001t0040g0191	1	7	0.1429	25	c.-42 others(36): Show c.-4264_-4263insATTTTATTTTATTTTATTTTATTTT	SLITRK4	ENSG00000179542.16	transcript	ENST00000356928.2	protein_coding		3847		chrX	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG02027.hp2 HG02040.hp1 others(7): Show HG00673.hp2 HG02027.hp2 HG02040.hp1 HG02300.hp1 HG02735.hp1 HG02965.hp2 NA18966.hp1 NA19060.hp1 NA19065.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0002t0019 a0001c0001t0001 a0001c0002t0001 a0001c0002t0019	a0001c0001t0001g0136 a0001c0002t0001g0207 a0001c0002t0001g0245 others(7): Show a0001c0001t0001g0136 a0001c0002t0001g0207 a0001c0002t0001g0245 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0254 a0001c0002t0001g0267 a0001c0002t0001g0275 a0001c0002t0001g0283 a0001c0002t0019g0220	10	129	0.0775	25	c.150 others(44): Show c.1502-1552_1502-1551insTTTTTTTTTTTTTTTTTTTTTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLPI_chr20_45247239_45259564	45258282	A A	ATAGATAG others(18): Show ATAGATAGATAGATAGATAGATAGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02717.hp2 HG02818.hp1 others(1): Show HG02717.hp1 HG02717.hp2 HG02818.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0002g0011 a0001c0001t0001g0027 a0001c0001t0002g0011	4	384	0.0104	25	c.-37 others(36): Show c.-3740_-3739insATCTATCTATCTATCTATCTATCTA	SLPI	ENSG00000124107.5	transcript	ENST00000338380.2	protein_coding		3719		chr20	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 NA18906.hp2 HG00544.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0264 a0001c0001t0002g0338 a0001c0001t0002g0264 a0001c0001t0002g0338	2	32	0.0625	25	c.299 others(44): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLX4IP_chr20_10430305_10633030	10452680	A A	AAATATAT others(18): Show AAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0054 a0004c0004t0054	a0004c0004t0054g0209 a0004c0004t0054g0209	1	38	0.0263	25	c.-29 others(42): Show c.-29-5495_-29-5494insATATATATATATATATATATATATA	SLX4IP	ENSG00000149346.15	transcript	ENST00000334534.10	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr20	TogoVar
SMAD3_chr15_67060602_67200169	67178861	C C	CCCTTCCC others(18): Show CCCTTCCCCATTAAGTACTTTTGATG	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18971.hp1 NA18747.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0042 a0001c0002t0024 a0001c0001t0042 a0001c0002t0024	a0001c0001t0042g0221 a0001c0002t0024g0243 a0001c0001t0042g0221 a0001c0002t0024g0243	2	308	0.0065	25	c.659 others(42): Show c.659-2374_659-2350dupCCCATTAAGTACTTTTGATGCCTTC	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD3_chr15_67060602_67200169	67181933	C C	CCAACCAC others(18): Show CCAACCACCACGCCCAGCTAATTTTT	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0102 a0001c0002t0001g0102	1	308	0.0032	25	c.871 others(40): Show c.871+481_871+505dupCAACCACCACGCCCAGCTAATTTTT	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAD5_chr5_136127845_136187733	136176457	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0038 a0001c0001t0012g0038	1	112	0.0089	25	c.125 others(42): Show c.1255-878_1255-854dupAAAAAAAAAAAAAAAAAAAAAAAAA	SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMAD5_chr5_136127845_136187733	136183496	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0041 a0001c0001t0004g0041	1	113	0.0088	25	c.60 others(36): Show c.6016_*6017insAAAAAAAAAAAAAAAAAAAAAAAAA	SMAD5	ENSG00000113658.18	transcript	ENST00000545279.6	protein_coding		764		chr5	TogoVar
SMAD6_chr15_66697236_66787849	66774833	A A	ATTTATTT others(18): Show ATTTATTTTATTTTATTTTATTTTAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0312	1	127	0.0079	25	c.953 others(42): Show c.953-6145_953-6121dupATTTTATTTTATTTTATTTTATTTT	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAP1_chr6_70662883_70867003	70725093	G G	GTTTTTTT others(18): Show GTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	5	0.2000	25	c.119 others(42): Show c.119-7268_119-7244dupTTTTTTTTTTTTTTTTTTTTTTTTT	SMAP1	ENSG00000112305.15	transcript	ENST00000370455.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMARCB1_chr22_23781966_23843009	23799679	A A	ATTTTTTT others(18): Show ATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0258 a0001c0002t0003g0258	1	60	0.0167	25	c.363 others(42): Show c.363-1242_363-1241insTTTTTTTTTTTTTTTTTTTTTTTTT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47671173	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0017 a0001c0001t0004g0017	1	111	0.0090	25	c.184 others(42): Show c.1840-481_1840-457dupTTTTTTTTTTTTTTTTTTTTTTTTT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	18/27			chr3	TogoVar
SMARCC1_chr3_47580269_47786893	47749670	A A	ACACACAC others(18): Show ACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0165 a0001c0002t0002g0165	1	28	0.0357	25	c.316 others(42): Show c.316-3678_316-3677insGTGTGTGTGTGTGTGTGTGTGTGTG	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27			chr3	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG02055.hp1 HG00323.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0139 a0001c0001t0001g0140	2	11	0.1818	25	c.242 others(42): Show c.2420+697_2420+698insTTTTTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0125 a0001c0001t0003g0125	1	72	0.0139	25	c.125 others(42): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 NA19063.hp2 HG02698.hp1 NA19063.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0006 a0001c0004 a0002c0006	a0001c0004t0001 a0002c0006t0001 a0001c0004t0001 a0002c0006t0001	a0001c0004t0001g0097 a0002c0006t0001g0124 a0001c0004t0001g0097 a0002c0006t0001g0124	2	67	0.0299	25	c.226 others(42): Show c.2260+988_2260+989insTATATATATATATATATATATATAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO2_chr12_27441736_27507185	27477634	C C	CTTTTTTT others(18): Show CTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03041.hp2 HG02723.hp1 HG03041.hp2	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0001 a0005c0008t0001	a0005c0008t0001g0278 a0005c0008t0001g0279 a0005c0008t0001g0278 a0005c0008t0001g0279	2	162	0.0123	25	c.512 others(42): Show c.512+1919_512+1920insTTTTTTTTTTTTTTTTTTTTTTTTT	SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMG6_chr17_2054843_2308785	2114906	A A	AAAAATAA others(18): Show AAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03688.hp2 HG02615.hp1 HG03688.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0002 a0001c0001t0006 a0002c0002t0002	a0001c0001t0006g0132 a0002c0002t0002g0048 a0001c0001t0006g0132 a0002c0002t0002g0048	2	264	0.0076	25	c.335 others(46): Show c.3358-29030_3358-29006dupATTTTATTTTATTTTATTTTATTT T	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2253119	T T	TTTTATTT others(18): Show TTTTATTTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0147 a0003c0003t0002g0147	1	90	0.0111	25	c.266 others(44): Show c.2662-8401_2662-8400insTAAATAAATAAATAAATAAAATAAA	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	8/18			chr17	TogoVar
SMG8_chr17_59205035_59220230	59208569	A A	AATATATA others(18): Show AATATATATAATATATATTATTATGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	392	0.0026	25	c.-14 others(36): Show c.-1483_-1482insATATATATAATATATATTATTATGT	SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding		1465		chr17	TogoVar
SMG9_chr19_43722983_43759962	43752902	T T	TAAAAAAA others(18): Show TAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG00738.hp2 HG01074.hp2 others(25): Show HG00733.hp2 HG00738.hp2 HG01074.hp2 HG01192.hp1 HG01261.hp2 HG01358.hp1 HG01975.hp2 HG02071.hp2 HG02129.hp1 HG02155.hp2 HG02486.hp1 HG02559.hp2 HG02622.hp2 HG02818.hp1 HG02818.hp2 HG02965.hp2 HG03098.hp2 HG03471.hp1 HG03654.hp2 HG03669.hp1 HG03831.hp1 HG04199.hp1 NA18969.hp2 NA18974.hp1 NA18975.hp2 NA18990.hp2 NA19058.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0007 a0001c0001 a0001c0006 a0001c0007	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0016 a0001c0001t0018 a0001c0001t0026 a0001c0001t0031 a0001c0001t0035 a0001c0001t0060 a0001c0006t0002 a0001c0007t0002	a0001c0001t0002g0003 a0001c0001t0002g0021 a0001c0001t0002g0045 others(18): Show a0001c0001t0002g0003 a0001c0001t0002g0021 a0001c0001t0002g0045 a0001c0001t0002g0047 a0001c0001t0002g0051 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0070 a0001c0001t0003g0046 a0001c0001t0003g0082 a0001c0001t0009g0056 a0001c0001t0009g0077 a0001c0001t0016g0044 a0001c0001t0016g0048 a0001c0001t0018g0086 a0001c0001t0026g0098 a0001c0001t0031g0052 a0001c0001t0035g0049 a0001c0001t0060g0201 a0001c0006t0002g0050 a0001c0007t0002g0055	28	225	0.1244	25	c.-7+ others(40): Show c.-7+1751_-7+1752insTTTTTTTTTTTTTTTTTTTTTTTTT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding	1/13			chr19	TogoVar
SMIM12_chr1_34845362_34864749	34862182	A A	ACACACGC others(18): Show ACACACGCAGCACAGAGGAGGATCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0144 a0001c0001t0144	a0001c0001t0144g0059 a0001c0001t0144g0059	1	380	0.0026	25	c.-25 others(36): Show c.-2512_-2511insAAGATCCTCCTCTGTGCTGCGTGTG	SMIM12	ENSG00000163866.9	transcript	ENST00000521580.3	protein_coding		2434		chr1	TogoVar
SMIM14_chr4_39541336_39643865	39584481	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0263 a0001c0001t0012g0263	1	36	0.0278	25	c.76- others(42): Show c.76-12019_76-12018insTTTTTTTTTTTTTTTTTTTTTTTTT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39619630	C C	CTATATAT others(18): Show CTATATATCAATAAATATAATTTATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03579.hp2 HG02145.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0197 a0001c0001t0001g0198	2	342	0.0058	25	c.-35 others(44): Show c.-35-14475_-35-14451dupAATAAATTATATTTATTGATATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM17_chr19_56638159_56662247	56658693	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp1 HG03471.hp1 NA19240.hp2 others(1): Show HG03098.hp1 HG03471.hp1 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0014 a0001c0001t0020 a0001c0001t0010 a0001c0001t0014 a0001c0001t0020	a0001c0001t0010g0206 a0001c0001t0014g0029 a0001c0001t0020g0201 a0001c0001t0010g0206 a0001c0001t0014g0029 a0001c0001t0020g0201	4	276	0.0145	25	c.34 others(36): Show c.3480_*3481insAAAAAAAAAAAAAAAAAAAAAGAAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding		1447		chr19	TogoVar
SMIM28_chr6_138372905_138388486	138380787	T T	TAAATAAA others(18): Show TAAATAAATAAATAAATAAATAAATA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03098.hp2 HG03130.hp1 others(3): Show HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03579.hp1 NA18522.hp1 NA18747.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0014 a0002c0002t0002g0033 a0002c0002t0002g0036 others(1): Show a0002c0002t0002g0014 a0002c0002t0002g0033 a0002c0002t0002g0036 a0002c0002t0002g0037	6	299	0.0201	25	c.112 others(42): Show c.112-1709_112-1708insAAATAAATAAATAAATAAATAAAAT	SMIM28	ENSG00000262543.2	transcript	ENST00000573100.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(18): Show CCTCGGCTCGGCTCGGCTCGGCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp2 HG03710.hp1 HG06807.hp1 others(1): Show HG02572.hp2 HG03710.hp1 HG06807.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0069 a0001c0001t0001g0001 a0001c0001t0001g0022 a0001c0001t0001g0069	4	5	0.8000	25	c.17 others(36): Show c.1785_*1786insCCGAGCCGAGCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMIM31_chr4_164749131_164808795	164755534	A A	AGGAGGGG others(18): Show AGGAGGGGAGAGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0232 a0001c0001t0007g0232	1	330	0.0030	25	c.-26 others(42): Show c.-26+1127_-26+1128insGGGAGAGGAGGGGAGGGGAGGGGAG	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164755534	A A	AGGAGGGG others(18): Show AGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02622.hp2 HG03098.hp1 others(4): Show HG01192.hp2 HG02622.hp2 HG03098.hp1 HG03453.hp2 HG03471.hp2 HG03669.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0001t0019	a0001c0001t0001g0264 a0001c0001t0002g0265 a0001c0001t0003g0241 others(4): Show a0001c0001t0001g0264 a0001c0001t0002g0265 a0001c0001t0003g0241 a0001c0001t0008g0267 a0001c0001t0012g0243 a0001c0001t0019g0242 a0001c0001t0019g0266	7	336	0.0208	25	c.-26 others(42): Show c.-26+1127_-26+1128insGGGAGGGGAGGGGAGGGGAGGGGAG	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164755539	A A	AGGAGGGG others(18): Show AGGAGGGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02071.hp1 HG02132.hp1 others(20): Show HG02027.hp2 HG02071.hp1 HG02132.hp1 HG02135.hp1 HG04204.hp2 NA18940.hp1 NA18944.hp2 NA18946.hp2 NA18950.hp1 NA18951.hp2 NA18960.hp2 NA18971.hp1 NA18980.hp1 NA18981.hp2 NA18985.hp1 NA18992.hp2 NA18994.hp2 NA19006.hp2 NA19011.hp2 NA19060.hp1 NA19066.hp1 NA19084.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0031 a0001c0004t0003	a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0325 others(20): Show a0001c0001t0001g0317 a0001c0001t0001g0321 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0355 a0001c0001t0002g0350 a0001c0001t0002g0354 a0001c0001t0002g0362 a0001c0001t0002g0363 a0001c0001t0003g0099 a0001c0001t0003g0324 a0001c0001t0003g0329 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0004g0322 a0001c0001t0004g0323 a0001c0001t0004g0326 a0001c0001t0004g0351 a0001c0001t0004g0352 a0001c0001t0004g0353 a0001c0001t0005g0361 a0001c0001t0031g0327 a0001c0004t0003g0320	23	38	0.6053	25	c.-26 others(42): Show c.-26+1150_-26+1174dupGAGGGGAGGGGAGGGGAGGGGAGGG	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM36_chr17_55444856_55516452	55500830	T T	TATATATT others(18): Show TATATATTATAATATATTATATTATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0139 a0001c0001t0005g0140	2	338	0.0059	25	c.17 others(46): Show c.174+10024_*174+10048dupTATAATATAATATATTATAATATA T	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMKR1_chr7_129497531_129517918	129498482	A A	AAAAAGAA others(18): Show AAAAAGAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	207	0.0048	25	c.-43 others(36): Show c.-4343_-4342insAAAAGAAAAGAAAAGAAAAGAAAAG	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		4048		chr7	TogoVar
SMOC2_chr6_168436184_168672992	168540552	G G	GGGCACGG others(18): Show GGGCACGGAGCTAGGAGGGAGGGCCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG03195.hp2 HG02559.hp1 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0168 a0001c0002t0002g0035 a0001c0001t0001g0168 a0001c0002t0002g0035	2	178	0.0112	25	c.464 others(42): Show c.464-3051_464-3050insCCAGGCACGGAGCTAGGAGGGAGGG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPD3_chr16_68353327_68453508	68357673	A A	AGGGTGGA others(18): Show AGGGTGGAGATTTCTGGCCCTCTAGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(169): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00558.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.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.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18943.hp2 NA18950.hp1 NA18952.hp2 NA18954.hp1 NA18956.hp1 NA18966.hp1 NA18966.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA19004.hp2 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp2 NA19091.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 others(6): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0001c0001 a0001c0002 a0001c0004 others(14): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0009 a0001c0012 a0001c0017 a0002c0003 a0003c0011 a0004c0016 a0005c0008 a0006c0015 a0007c0013 a0008c0010 a0009c0014	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(45): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0030 a0001c0001t0034 a0001c0001t0038 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0009 a0001c0002t0014 a0001c0002t0022 a0001c0002t0023 a0001c0002t0026 a0001c0002t0027 a0001c0002t0028 a0001c0002t0031 a0001c0002t0032 a0001c0002t0035 a0001c0002t0036 a0001c0002t0037 a0001c0004t0001 a0001c0005t0001 a0001c0006t0012 a0001c0006t0017 a0001c0007t0013 a0001c0009t0006 a0001c0012t0008 a0001c0017t0003 a0002c0003t0011 a0002c0003t0024 a0002c0003t0025 a0003c0011t0001 a0004c0016t0016 a0005c0008t0005 a0006c0015t0004 a0007c0013t0003 a0008c0010t0001 a0009c0014t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 others(164): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0094 a0001c0001t0001g0096 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0130 a0001c0001t0001g0139 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0196 a0001c0001t0004g0019 a0001c0001t0004g0023 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0043 a0001c0001t0004g0044 a0001c0001t0004g0106 a0001c0001t0004g0151 a0001c0001t0005g0059 a0001c0001t0005g0064 a0001c0001t0005g0102 a0001c0001t0005g0121 a0001c0001t0005g0123 a0001c0001t0005g0127 a0001c0001t0005g0155 a0001c0001t0007g0099 a0001c0001t0007g0100 a0001c0001t0007g0103 a0001c0001t0007g0107 a0001c0001t0007g0119 a0001c0001t0007g0122 a0001c0001t0010g0166 a0001c0001t0010g0185 a0001c0001t0010g0193 a0001c0001t0012g0056 a0001c0001t0015g0150 a0001c0001t0015g0152 a0001c0001t0016g0143 a0001c0001t0018g0200 a0001c0001t0018g0201 a0001c0001t0019g0145 a0001c0001t0020g0170 a0001c0001t0021g0167 a0001c0001t0030g0126 a0001c0001t0034g0165 a0001c0001t0038g0202 a0001c0002t0003g0003 a0001c0002t0003g0006 a0001c0002t0003g0008 a0001c0002t0003g0021 a0001c0002t0003g0031 a0001c0002t0003g0038 a0001c0002t0003g0054 a0001c0002t0003g0062 a0001c0002t0003g0068 a0001c0002t0003g0095 a0001c0002t0003g0101 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0112 a0001c0002t0003g0115 a0001c0002t0003g0128 a0001c0002t0003g0138 a0001c0002t0003g0140 a0001c0002t0003g0141 a0001c0002t0003g0147 a0001c0002t0006g0049 a0001c0002t0006g0051 a0001c0002t0006g0057 a0001c0002t0006g0089 a0001c0002t0006g0129 a0001c0002t0006g0195 a0001c0002t0008g0004 a0001c0002t0008g0148 a0001c0002t0008g0189 a0001c0002t0009g0065 a0001c0002t0009g0069 a0001c0002t0009g0070 a0001c0002t0014g0113 a0001c0002t0014g0142 a0001c0002t0022g0132 a0001c0002t0023g0104 a0001c0002t0026g0120 a0001c0002t0027g0131 a0001c0002t0028g0137 a0001c0002t0031g0146 a0001c0002t0032g0013 a0001c0002t0035g0011 a0001c0002t0036g0203 a0001c0002t0037g0197 a0001c0004t0001g0001 a0001c0004t0001g0015 a0001c0005t0001g0058 a0001c0005t0001g0110 a0001c0005t0001g0111 a0001c0006t0012g0093 a0001c0006t0017g0198 a0001c0006t0017g0199 a0001c0007t0013g0002 a0001c0009t0006g0050 a0001c0012t0008g0190 a0001c0017t0003g0040 a0002c0003t0011g0033 a0002c0003t0011g0134 a0002c0003t0024g0135 a0002c0003t0025g0048 a0003c0011t0001g0171 a0004c0016t0016g0144 a0005c0008t0005g0097 a0006c0015t0004g0098 a0007c0013t0003g0037 a0008c0010t0001g0173 a0009c0014t0001g0178	172	206	0.8350	25	c.35 others(36): Show c.3532_*3533insACTAGAGGGCCAGAAATCTCCACCC	SMPD3	ENSG00000103056.12	transcript	ENST00000219334.10	protein_coding		653		chr16	TogoVar
SMS_chrX_21935709_21999837	21944544	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00642.hp1 HG01106.hp1 others(14): Show HG00639.hp1 HG00642.hp1 HG01106.hp1 HG01928.hp1 HG01978.hp2 HG01981.hp2 HG02280.hp2 HG02293.hp2 HG02809.hp1 HG02970.hp1 NA18747.hp1 NA18942.hp1 NA18970.hp1 NA19005.hp1 NA19056.hp1 NA19058.hp1 NA19065.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0225 others(14): Show a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0295 a0001c0001t0004g0034 a0001c0001t0004g0144	17	263	0.0646	25	c.49+ others(40): Show c.49+3672_49+3673insAAAAAAAAAAAAAAAAAAGAAAAGA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21988662	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA18747.hp1 HG02970.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0238 a0001c0001t0001g0077 a0001c0001t0001g0238	2	5	0.4000	25	c.945 others(42): Show c.945+3445_945+3469dupAAAAAAAAAAAAAAAAAAAAAAAAA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMURF2_chr17_64537282_64667307	64637923	C C	CAAAAAAA others(18): Show CAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03098.hp2 HG03471.hp1 others(2): Show HG02922.hp1 HG03098.hp2 HG03471.hp1 HG03654.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009	a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0008g0035 others(2): Show a0001c0001t0006g0164 a0001c0001t0006g0165 a0001c0001t0008g0035 a0001c0001t0009g0159 a0001c0001t0009g0166	5	68	0.0735	25	c.52+ others(42): Show c.52+23905_52+23906insTTTTTTTTTTTTTTTTTTTTTTTTT	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64665973	T T	TTTTTATT others(18): Show TTTTTATTTTATTTTATTTTATTTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0029	1	39	0.0256	25	c.-40 others(36): Show c.-4094_-4093insTAAAATAAAATAAAATAAAATAAAA	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding		3667		chr17	TogoVar
SMYD2_chr1_214276159_214342131	214299465	T T	TATATATA others(18): Show TATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	232	0.0043	25	c.174 others(42): Show c.174-5722_174-5721insATATATATATATATATATATATATA	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245765077	C C	CACACAAA others(18): Show CACACAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	137	0.0073	25	c.107 others(42): Show c.1077-929_1077-928insTTTTTTTTTTTTTTTTTTTTTGTGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245765077	C C	CACACACA others(18): Show CACACACACAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02257.hp2 HG01433.hp2 HG02257.hp2	a0001 a0002 a0001 a0002	a0001c0006 a0002c0004 a0001c0006 a0002c0004	a0001c0006t0001 a0002c0004t0001 a0001c0006t0001 a0002c0004t0001	a0001c0006t0001g0071 a0002c0004t0001g0149 a0001c0006t0001g0071 a0002c0004t0001g0149	2	138	0.0145	25	c.107 others(42): Show c.1077-929_1077-928insTTTTTTTTTTTTTTTTTGTGTGTGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245765078	A A	ACACAAAA others(18): Show ACACAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03209.hp1 HG02965.hp1 HG03209.hp1	a0002 a0002	a0002c0003 a0002c0004 a0002c0003 a0002c0004	a0002c0003t0001 a0002c0004t0001 a0002c0003t0001 a0002c0004t0001	a0002c0003t0001g0121 a0002c0004t0001g0128 a0002c0003t0001g0121 a0002c0004t0001g0128	2	149	0.0134	25	c.107 others(42): Show c.1077-930_1077-929insGTTTTTTTTTTTTTTTTTTTTTGTG	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245833073	A A	AAAAAAAA others(18): Show AAAAAAAAAAAAAAAAAAAACACAAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02071.hp2 NA19086.hp1 HG01175.hp1 HG02071.hp2 NA19086.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0002 a0002c0004t0001 a0001c0001t0002 a0002c0004t0001	a0001c0001t0002g0038 a0001c0001t0002g0091 a0002c0004t0001g0098 a0001c0001t0002g0038 a0001c0001t0002g0091 a0002c0004t0001g0098	3	72	0.0417	25	c.107 others(46): Show c.1076+25422_1076+25423insGTTGTGTTTTTTTTTTTTTTTTTT T	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246348077	T T	TATATATA others(18): Show TATATATATATATATATATATATAAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0002 a0002c0005t0002	a0002c0005t0002g0130 a0002c0005t0002g0130	1	49	0.0204	25	c.228 others(42): Show c.228+6953_228+6954insGTTATATATATATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	2/11			chr1	TogoVar
SMYD4_chr17_1774485_1834902	1779479	A A	AAAAACAA others(18): Show AAAAACAAAACAAAACAAAACAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG00738.hp1 HG00741.hp1 others(3): Show HG00733.hp2 HG00738.hp1 HG00741.hp1 HG01099.hp2 HG01516.hp1 HG02602.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0009 a0002c0002t0002g0294 a0002c0002t0002g0303 others(2): Show a0002c0002t0002g0009 a0002c0002t0002g0294 a0002c0002t0002g0303 a0002c0002t0002g0321 a0002c0002t0002g0335	6	110	0.0545	25	c.18 others(36): Show c.1806_*1807insGTTTTGTTTTGTTTTGTTTTGTTTT	SMYD4	ENSG00000186532.12	transcript	ENST00000305513.12	protein_coding		5		chr17	TogoVar

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