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
SLIT3_chr5_168656740_169306139	168884549	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0039 a0001c0006t0002g0039	1	5	0.2000	32	c.414 others(49): Show c.414-1245_414-1214dupATATATATATATATATATATATATATAT ATAT	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168897646	G G	GCGCGCGC others(25): Show GCGCGCGCGCGCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0034 a0002c0002t0034	a0002c0002t0034g0111 a0002c0002t0034g0111	1	42	0.0238	32	c.414 others(51): Show c.414-14311_414-14310insTGTGTGTGTGTGTGTGTGCGCGCGCG CGCGCG	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	168972337	A A	ATGTGTGT others(25): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0012 a0001c0009t0012	a0001c0009t0012g0035 a0001c0009t0012g0035	1	4	0.2500	32	c.414 others(51): Show c.414-89033_414-89002dupCACACACACACACACACACACACACA CACACA	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLIT3_chr5_168656740_169306139	169079625	A A	AGAGGAGG others(25): Show AGAGGAGGAGGGAAGAGGAGGAGGAGGGAAGAG	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02897.hp2 HG03139.hp2 others(2): Show HG02896.hp2 HG02897.hp2 HG03139.hp2 NA18974.hp2 NA20805.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0010 a0002c0011 a0003c0033 others(1): Show a0001c0010 a0002c0011 a0003c0033 a0004c0039	a0001c0010t0008 a0002c0011t0005 a0003c0033t0007 others(1): Show a0001c0010t0008 a0002c0011t0005 a0003c0033t0007 a0004c0039t0006	a0001c0010t0008g0068 a0002c0011t0005g0065 a0002c0011t0005g0075 others(2): Show a0001c0010t0008g0068 a0002c0011t0005g0065 a0002c0011t0005g0075 a0003c0033t0007g0108 a0004c0039t0006g0087	5	96	0.0521	32	c.413 others(53): Show c.413+113822_413+113853dupCTCTTCCCTCCTCCTCCTCTTCCC TCCTCCTC	SLIT3	ENSG00000184347.16	transcript	ENST00000519560.6	protein_coding	4/35			chr5	TogoVar
SLITRK2_chrX_145812829_145834856	145816461	A A	AAACTCTG others(25): Show AAACTCTGTACATCTTCATAATATAAGATTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0002 a0003c0009t0002	a0003c0009t0002g0047 a0003c0009t0002g0047	1	324	0.0031	32	c.-23 others(43): Show c.-2358_-2357insAACTCTGTACATCTTCATAATATAAGATTGCC	SLITRK2	ENSG00000185985.11	transcript	ENST00000335565.6	protein_coding		1367		chrX	TogoVar
SLITRK2_chrX_145812829_145834856	145817749	C C	CCCTCCCT others(25): Show CCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0067 a0001c0001t0005g0067	1	8	0.1250	32	c.-10 others(43): Show c.-1070_-1069insCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCT	SLITRK2	ENSG00000185985.11	transcript	ENST00000335565.6	protein_coding		79		chrX	TogoVar
SLITRK3_chr3_165181720_165201384	165196897	G G	GTCTCTCT others(25): Show GTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0005 a0001c0001t0004g0005	1	53	0.0189	32	c.-13 others(43): Show c.-1340_-1339insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	SLITRK3	ENSG00000121871.4	transcript	ENST00000475390.2	protein_coding		514		chr3	TogoVar
SLMAP_chr3_57751309_57935003	57869630	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0196 a0001c0002t0001g0196	1	63	0.0159	32	c.123 others(51): Show c.1238-1976_1238-1975insTATATATATATATATATATATATATA TATATA	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	13/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(25): Show CTTTTTTTTCTTTTTCTTTTTCTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0071 a0001c0001t0037g0071	1	241	0.0041	32	c.150 others(51): Show c.1502-1576_1502-1575insCTTTTTCTTTTTCTTTTTTTTTTTTT TTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906300	C C	CTTTTTTT others(25): Show CTTTTTTTTCTTTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18977.hp1 NA19000.hp2 others(2): Show NA18968.hp1 NA18977.hp1 NA19000.hp2 NA19012.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0066 others(2): Show a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0066 a0001c0001t0002g0072 a0001c0001t0002g0286	5	245	0.0204	32	c.150 others(51): Show c.1502-1576_1502-1575insCTTTTTCTTTTTTTTTTTTTTTTTTT TTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLMAP_chr3_57751309_57935003	57906310	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03834.hp2 NA18951.hp1 NA18999.hp2 HG03834.hp2 NA18951.hp1 NA18999.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0232 a0001c0002t0001g0242 a0001c0002t0001g0247 a0001c0002t0001g0232 a0001c0002t0001g0242 a0001c0002t0001g0247	3	122	0.0246	32	c.150 others(51): Show c.1502-1552_1502-1551insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SLMAP	ENSG00000163681.17	transcript	ENST00000671191.1	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(25): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 NA19003.hp2 HG02895.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0341 a0001c0002t0001g0094 a0001c0001t0002g0341 a0001c0002t0001g0094	2	32	0.0625	32	c.299 others(51): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47850232	T T	TTATATAT others(25): Show TTATATATTATATATTATATATATTATGTATAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02451.hp2 others(1): Show HG01884.hp1 HG01891.hp1 HG02451.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0220 a0001c0001t0233 others(1): Show a0001c0001t0037 a0001c0001t0220 a0001c0001t0233 a0001c0001t0238	a0001c0001t0037g0004 a0001c0001t0220g0033 a0001c0001t0233g0019 others(1): Show a0001c0001t0037g0004 a0001c0001t0220g0033 a0001c0001t0233g0019 a0001c0001t0238g0032	4	299	0.0134	32	c.784 others(49): Show c.784+1010_784+1041dupTTATACATAATATATATAATATATAATA TATA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850583	A A	ATATATAT others(25): Show ATATATATTATATATATTATGTATAATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00735.hp2 HG02273.hp2 others(8): Show HG00438.hp1 HG00735.hp2 HG02273.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG03490.hp1 HG03704.hp2 NA18949.hp1 NA19004.hp1 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0020 a0001c0001t0074 others(6): Show a0001c0001t0001 a0001c0001t0020 a0001c0001t0074 a0001c0001t0083 a0001c0001t0087 a0001c0001t0102 a0001c0001t0122 a0001c0001t0134 a0001c0001t0173	a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0265 others(8): Show a0001c0001t0001g0252 a0001c0001t0001g0258 a0001c0001t0001g0265 a0001c0001t0020g0220 a0001c0001t0074g0285 a0001c0001t0083g0274 a0001c0001t0087g0196 a0001c0001t0102g0277 a0001c0001t0122g0218 a0001c0001t0134g0259 a0001c0001t0173g0283	11	305	0.0361	32	c.784 others(47): Show c.784+659_784+690dupATATATATTATACATAATATATATAATATA TA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850616	T T	TATATATT others(25): Show TATATATTATATATATTATGTATAATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0096 a0001c0001t0096	a0001c0001t0096g0288 a0001c0001t0096g0288	1	306	0.0033	32	c.784 others(47): Show c.784+657_784+658insTATATATATTATACATAATATATATAATAT AT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47882041	C C	CTTTTTTT others(25): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0137 a0001c0001t0137	a0001c0001t0137g0296 a0001c0001t0137g0296	1	40	0.0250	32	c.237 others(51): Show c.237-11478_237-11477insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD6_chr15_66697236_66787849	66711803	C C	CAGGGCTG others(25): Show CAGGGCTGGAGGGCTGGAGGGCTGGAGGGCTGG	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02809.hp1 HG03041.hp2 HG02572.hp1 HG02809.hp1 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0028 a0001c0001t0016 a0001c0001t0028	a0001c0001t0016g0266 a0001c0001t0016g0267 a0001c0001t0028g0268 a0001c0001t0016g0266 a0001c0001t0016g0267 a0001c0001t0028g0268	3	307	0.0098	32	c.874 others(47): Show c.874+107_874+108insCTGGAGGGCTGGAGGGCTGGAGGGCTGGAG GG	SMAD6	ENSG00000137834.15	transcript	ENST00000288840.10	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr15	TogoVar
SMAGP_chr12_51239558_51275415	51250969	C C	CAGGGCTG others(25): Show CAGGGCTGCAATCCATCTTCCTACCATGGATCT	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG02293.hp2 HG02300.hp2 HG01993.hp2 HG02293.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0135 a0001c0001t0001g0016 a0001c0001t0001g0135	3	408	0.0074	32	c.35- others(47): Show c.35-4170_35-4139dupAGATCCATGGTAGGAAGATGGATTGCAGCC CT	SMAGP	ENSG00000170545.17	transcript	ENST00000603798.6	protein_coding	2/3			chr12	TogoVar
SMARCAD1_chr4_94202865_94296292	94223734	A A	ATTTTTTT others(25): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0146 a0002c0003t0003g0146	1	288	0.0035	32	c.191 others(49): Show c.191-2359_191-2358insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	SMARCAD1	ENSG00000163104.18	transcript	ENST00000354268.9	protein_coding	2/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMARCE1_chr17_40619962_40652818	40626865	A A	ACTCCAAC others(25): Show ACTCCAACTCAAAAAAAAAAAAAAAAAAAAAGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00558.hp1 HG00735.hp2 HG01106.hp2 others(9): Show HG00558.hp1 HG00735.hp2 HG01106.hp2 HG01109.hp1 HG03942.hp1 HG03942.hp2 NA18747.hp1 NA18940.hp1 NA18942.hp2 NA18975.hp1 NA18997.hp2 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0021 a0001c0001t0031 others(1): Show a0001c0001t0007 a0001c0001t0021 a0001c0001t0031 a0001c0001t0039	a0001c0001t0007g0013 a0001c0001t0007g0093 a0001c0001t0007g0126 others(5): Show a0001c0001t0007g0013 a0001c0001t0007g0093 a0001c0001t0007g0126 a0001c0001t0007g0130 a0001c0001t0021g0080 a0001c0001t0021g0089 a0001c0001t0031g0097 a0001c0001t0039g0132	12	118	0.1017	32	c.19 others(43): Show c.1919_*1920insGCTTTTTTTTTTTTTTTTTTTTTGAGTTGGAG	SMARCE1	ENSG00000073584.20	transcript	ENST00000348513.12	protein_coding	11/11	1919		chr17	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA19007.hp2 NA18961.hp2 NA19007.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0102 a0003c0003t0003g0129 a0003c0003t0003g0102 a0003c0003t0003g0129	2	67	0.0299	32	c.226 others(49): Show c.2260+988_2260+989insTATATATATATATATATATATATATATA AAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708907	T T	TATATATA others(25): Show TATATATATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0068 a0003c0003t0003g0068	1	66	0.0152	32	c.226 others(49): Show c.2260+988_2260+989insTATATATATATATATATATATATATATA TAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2709232	G G	GTGTATAT others(25): Show GTGTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00673.hp1 HG02165.hp2 others(5): Show HG00621.hp1 HG00673.hp1 HG02165.hp2 NA18974.hp2 NA19003.hp1 NA19012.hp1 NA19058.hp1 NA19062.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0163 a0001c0002t0002g0169 a0001c0002t0002g0171 others(5): Show a0001c0002t0001g0163 a0001c0002t0002g0169 a0001c0002t0002g0171 a0001c0002t0002g0173 a0001c0002t0002g0176 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0208	8	260	0.0308	32	c.226 others(51): Show c.2260+1313_2260+1314insGTATATATATATATATATATATATAT ATATAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2709232	G G	GTGTGTAT others(25): Show GTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0184 a0001c0002t0001g0184	1	253	0.0040	32	c.226 others(51): Show c.2260+1313_2260+1314insGTGTATATATATATATATATATATAT ATATAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2748378	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0004 a0001c0005t0004	a0001c0005t0004g0032 a0001c0005t0004g0032	1	268	0.0037	32	c.392 others(49): Show c.3927+736_3927+737insGTGTGTGTGTGTGTGTGTGTGTGTGTAT GTGT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	30/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2748380	G G	GTGTGTGT others(25): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0007 a0010c0022t0007	a0010c0022t0007g0230 a0010c0022t0007g0230	1	165	0.0061	32	c.392 others(49): Show c.3927+736_3927+737insGTGTGTGTGTGTGTGTGTGTGTGTATAT ATGT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	30/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMG7_chr1_183467499_183559191	183477519	T T	TGTGTGTG others(25): Show TGTGTGTGCATATGTGTATATATGCATATATAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00738.hp1 HG01099.hp1 others(16): Show HG00099.hp1 HG00738.hp1 HG01099.hp1 HG01175.hp2 HG01256.hp2 HG01516.hp1 HG01884.hp2 HG02109.hp2 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02622.hp2 HG02630.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp1 HG03195.hp1 NA20805.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0005 a0001c0001t0001g0102 a0001c0001t0001g0104 others(14): Show a0001c0001t0001g0005 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0182 a0001c0004t0001g0084 a0001c0004t0001g0085 a0001c0004t0001g0086 a0001c0004t0001g0087 a0001c0004t0001g0088 a0001c0004t0001g0089 a0001c0004t0001g0090	19	345	0.0551	32	c.29+ others(47): Show c.29+5041_29+5072dupATGTGTATATATGCATATATACGTGTGTGC AT	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG7_chr1_183467499_183559191	183477712	G G	GTGTGTGC others(25): Show GTGTGTGCATATGTGTATATATGCATATATACA	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0256 a0001c0001t0004g0256	1	357	0.0028	32	c.29+ others(47): Show c.29+5072_29+5073insATGTGTATATATGCATATATACATGTGTGC AT	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(25): Show TATATATATATATATATATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0085 a0001c0001t0018g0085	1	73	0.0137	32	c.67 others(43): Show c.6765_*6766insGTGTGTGTGTGTGTATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(25): Show TATATATATATATATATATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0083 a0001c0001t0003g0083	1	73	0.0137	32	c.67 others(43): Show c.6765_*6766insGTGTGTGTGTGTATATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(25): Show TATATATATATATATATATATATACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	73	0.0137	32	c.67 others(43): Show c.6765_*6766insGTGTGTGTGTATATATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(25): Show TATATATATATATATATATATATACATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	73	0.0137	32	c.67 others(43): Show c.6765_*6766insGTGTGTATGTATATATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(25): Show TATATATATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0009 a0001c0001t0002g0009	1	73	0.0137	32	c.67 others(43): Show c.6765_*6766insGTGTGTGTATATATATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(25): Show TATATATATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	73	0.0137	32	c.67 others(43): Show c.6765_*6766insGTGTGTATATATATATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMIM10L1_chr12_11166194_11181016	11168299	A A	AGAAAGAA others(25): Show AGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	1	323	0.0031	32	c.-30 others(43): Show c.-3058_-3057insGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2894		chr12	TogoVar
SMIM17_chr19_56638159_56662247	56659387	G G	GCCCCCCC others(25): Show GCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0181 a0001c0002t0002g0181	1	416	0.0024	32	c.41 others(43): Show c.4174_*4175insCCCCCCCCCCCCCCCCCCCCCCTCCCCCCCCC	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding		2141		chr19	TogoVar
SMIM36_chr17_55444856_55516452	55500790	A A	ATATATTA others(25): Show ATATATTATAAAATATAATATATTATTATATAT	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	284	0.0035	32	c.17 others(53): Show c.174+10088_*174+10089insATATATAATAATATATTATATTTT ATAATATA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM3_chr5_150773757_150801734	150797318	A A	ATATATAT others(25): Show ATATATATATATATATATTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	169	0.0059	32	c.16 others(43): Show c.1695_*1696insTATATATATATATATATTTTTTTTTTTTTTTT	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		585		chr5	TogoVar
SMIM45_chr22_41947150_41963939	41958483	G G	GGAGAGAG others(25): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0073 a0001c0001t0021g0073	1	180	0.0056	32	c.61 others(41): Show c.616_*617insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	2/2	617	INFO_REALIGN_3_PRIME	chr22	TogoVar
SMOC1_chr14_69874416_70037366	69875963	G G	GATATATA others(25): Show GATATATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG04228.hp2 HG03927.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0004 a0001c0004t0005 a0001c0001t0004 a0001c0004t0005	a0001c0001t0004g0047 a0001c0004t0005g0024 a0001c0001t0004g0047 a0001c0004t0005g0024	2	74	0.0270	32	c.-37 others(43): Show c.-3716_-3715insATATATATATATATATATATATATATATATAT	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding		3452		chr14	TogoVar
SMOC2_chr6_168436184_168672992	168615428	G G	GGTCTCTT others(25): Show GGTCTCTTCATCTTCATACTTACAGCCGGCACA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG01069.hp1 HG01167.hp1 others(30): Show HG00597.hp1 HG01069.hp1 HG01167.hp1 HG01256.hp2 HG01361.hp1 HG01952.hp2 HG01978.hp1 HG02083.hp1 HG02129.hp2 HG02293.hp1 HG02735.hp1 HG03130.hp2 HG03579.hp1 HG03654.hp2 HG04204.hp2 HG04228.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp2 NA18971.hp2 NA18983.hp1 NA18990.hp1 NA18990.hp2 NA19000.hp2 NA19012.hp1 NA19068.hp1 NA19068.hp2 NA19079.hp1 NA19080.hp1 NA19085.hp2 NA19088.hp2 NA20752.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0004c0012 a0001c0001 a0001c0002 a0004c0012	a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0011 a0001c0002t0002 a0001c0002t0007 a0004c0012t0010	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0092 others(30): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0097 a0001c0001t0001g0115 a0001c0001t0001g0123 a0001c0001t0001g0139 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0165 a0001c0001t0003g0085 a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0011g0119 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0013 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0028 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0059 a0001c0002t0002g0060 a0001c0002t0007g0016 a0004c0012t0010g0076	33	178	0.1854	32	c.907 others(49): Show c.907+7190_907+7191insTCTCTTCATCTTCATACTTACAGCCGGC ACAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168618405	A A	AAGGCGGG others(25): Show AAGGCGGGTAGTGGCATTAGGAGAGTGGAGGAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00741.hp2 others(24): Show HG00280.hp2 HG00423.hp2 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01256.hp1 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG02004.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02135.hp2 HG02602.hp1 HG02735.hp2 HG02738.hp2 HG03490.hp1 HG03834.hp1 HG06807.hp1 NA18612.hp1 NA18941.hp1 NA18944.hp1 NA18950.hp2 NA18960.hp2 NA18983.hp2 NA19079.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0009 a0001c0001 a0001c0002 a0003c0009	a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0002t0002 a0001c0002t0008 a0001c0002t0013 a0003c0009t0003	a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0083 others(24): Show a0001c0001t0001g0072 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0103 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0175 a0001c0001t0004g0118 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0017 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0065 a0001c0002t0002g0068 a0001c0002t0008g0047 a0001c0002t0013g0062 a0003c0009t0003g0086	27	169	0.1598	32	c.907 others(51): Show c.907+10249_907+10280dupGGAGAGTGGAGGAGAGGCGGGTAGTG GCATTA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168618505	C C	CGGGTAGT others(25): Show CGGGTAGTGGCATTAGGAGAGTGGAGGAGAGGT	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03654.hp1 HG01261.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0088 a0001c0002t0002g0067 a0001c0001t0001g0088 a0001c0002t0002g0067	2	178	0.0112	32	c.907 others(51): Show c.907+10280_907+10281insGGAGAGTGGAGGAGAGGTGGGTAGTG GCATTA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPD2_chr6_109435724_109448919	109448097	G G	GACACACA others(25): Show GACACACACACACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp2 HG02074.hp1 HG02280.hp1 others(4): Show HG01928.hp2 HG02074.hp1 HG02280.hp1 HG02717.hp1 HG02965.hp2 HG02976.hp2 NA19007.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0002 a0003c0003 a0004c0005 a0001c0002 a0003c0003 a0004c0005	a0001c0002t0001 a0001c0002t0002 a0003c0003t0002 others(1): Show a0001c0002t0001 a0001c0002t0002 a0003c0003t0002 a0004c0005t0001	a0001c0002t0001g0003 a0001c0002t0002g0002 a0003c0003t0002g0001 others(1): Show a0001c0002t0001g0003 a0001c0002t0002g0002 a0003c0003t0002g0001 a0004c0005t0001g0003	7	181	0.0387	32	c.41 others(43): Show c.4192_*4193insACACACACACACACACACACACACACACACAC	SMPD2	ENSG00000135587.9	transcript	ENST00000258052.8	protein_coding		4179		chr6	TogoVar
SMU1_chr9_33036765_33081674	33039536	C C	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG01167.hp2 NA18950.hp1 others(1): Show HG00099.hp1 HG01167.hp2 NA18950.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0066 a0001c0001t0067 a0001c0001t0002 a0001c0001t0066 a0001c0001t0067	a0001c0001t0002g0014 a0001c0001t0002g0087 a0001c0001t0066g0075 others(1): Show a0001c0001t0002g0014 a0001c0001t0002g0087 a0001c0001t0066g0075 a0001c0001t0067g0051	4	304	0.0132	32	c.77 others(43): Show c.7756_*7757insATATATATATATATATATATATATATATATAT	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding		2228		chr9	TogoVar
SMURF1_chr7_99022440_99149108	99063261	A A	AAGATTTA others(25): Show AAGATTTATATATATATATATATATATAAGATT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0052 a0001c0001t0004g0052	1	257	0.0039	32	c.56- others(47): Show c.56-1425_56-1424insAATCTTATATATATATATATATATATAAAT CT	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF2_chr17_64537282_64667307	64605744	A A	AATATATA others(25): Show AATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01517.hp2 NA19030.hp2 HG00558.hp2 HG01517.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0003 a0001c0002t0004 a0001c0001t0002 a0001c0001t0003 a0001c0002t0004	a0001c0001t0002g0116 a0001c0001t0003g0028 a0001c0002t0004g0005 a0001c0001t0002g0116 a0001c0001t0003g0028 a0001c0002t0004g0005	3	40	0.0750	32	c.91+ others(45): Show c.91+826_91+857dupATATATATATATATATATATATATATATATAT	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	2/18			chr17	TogoVar
SMYD2_chr1_214276159_214342131	214299465	T T	TTATATAT others(25): Show TTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA18979.hp1 HG02486.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0285 a0001c0001t0001g0244 a0001c0001t0001g0285	2	233	0.0086	32	c.174 others(49): Show c.174-5704_174-5703insTATATATATATATATATATATATATATA TATA	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	245833073	A A	AAAAAAAA others(25): Show AAAAAAAAAAAAAAAAAAAAAAAAAAACACAAC	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0056 a0001c0002t0001g0056	1	70	0.0143	32	c.107 others(53): Show c.1076+25422_1076+25423insGTTGTGTTTTTTTTTTTTTTTTTT TTTTTTTT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245921547	G G	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	116	0.0086	32	c.703 others(49): Show c.703-5908_703-5907insTATATATATATATATATATATATATATA TATA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	7/11			chr1	TogoVar

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