Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01257.hp2 HG01981.hp2 others(3): Show HG00639.hp2 HG01257.hp2 HG01981.hp2 HG02055.hp2 HG02148.hp1 NA19079.hp2	a0003 a0015 a0003 a0015	a0003c0003 a0015c0027 a0003c0003 a0015c0027	a0003c0003t0001 a0003c0003t0002 a0015c0027t0005 a0003c0003t0001 a0003c0003t0002 a0015c0027t0005	a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0226 others(3): Show a0003c0003t0001g0148 a0003c0003t0001g0149 a0003c0003t0001g0226 a0003c0003t0002g0147 a0003c0003t0002g0150 a0015c0027t0005g0221	6	92	0.0652	13	c.335 others(34): Show c.3357+42379_3357+42391dupTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG8_chr17_59205035_59220230	59215369	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0001 a0001c0003t0001g0001	1	5	0.2000	13	c.36 others(22): Show c.367_*368insTTTTTTTTTTTTT	SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding		140		chr17	TogoVar
SMG9_chr19_43722983_43759962	43725450	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02451.hp2 HG02145.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0043 a0001c0002t0028 a0001c0002t0043	a0001c0002t0028g0100 a0001c0002t0043g0095 a0001c0002t0028g0100 a0001c0002t0043g0095	2	193	0.0104	13	c.61 others(24): Show c.6145_*6146insAAAAAAAAAAAAA	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		2532		chr19	TogoVar
SMG9_chr19_43722983_43759962	43752916	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0028 a0001c0002t0028	a0001c0002t0028g0101 a0001c0002t0028g0101	1	316	0.0032	13	c.-7+ others(28): Show c.-7+1737_-7+1738insCTTTTTTTTTTTT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding	1/13			chr19	TogoVar
SMIM10L1_chr12_11166194_11181016	11177472	T T	TGGCGGGG others(6): Show TGGCGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0000 a0001c0002t0003g0000	1	248	0.0040	13	c.59 others(24): Show c.5909_*5910insGGCGGGGGGGGGG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		1457		chr12	TogoVar
SMIM12_chr1_34845362_34864749	34847920	T T	TGGGCTCA others(6): Show TGGGCTCAGACCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(221): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00639.hp1 HG00642.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01981.hp1 HG02015.hp1 HG02040.hp1 HG02055.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18943.hp2 NA18945.hp1 NA18966.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp2 NA18983.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp1 NA19070.hp2 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(121): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036 a0001c0001t0037 a0001c0001t0039 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0054 a0001c0001t0055 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0083 a0001c0001t0086 a0001c0001t0087 a0001c0001t0089 a0001c0001t0090 a0001c0001t0091 a0001c0001t0092 a0001c0001t0093 a0001c0001t0094 a0001c0001t0096 a0001c0001t0097 a0001c0001t0099 a0001c0001t0100 a0001c0001t0101 a0001c0001t0102 a0001c0001t0104 a0001c0001t0106 a0001c0001t0107 a0001c0001t0108 a0001c0001t0109 a0001c0001t0110 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0115 a0001c0001t0117 a0001c0001t0118 a0001c0001t0120 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0127 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0136 a0001c0001t0138 a0001c0001t0139 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0148 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154	a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0002g0002 others(143): Show a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0002g0002 a0001c0001t0004g0004 a0001c0001t0004g0093 a0001c0001t0005g0008 a0001c0001t0005g0014 a0001c0001t0005g0094 a0001c0001t0007g0009 a0001c0001t0007g0127 a0001c0001t0008g0007 a0001c0001t0009g0020 a0001c0001t0009g0030 a0001c0001t0010g0011 a0001c0001t0012g0018 a0001c0001t0012g0039 a0001c0001t0013g0015 a0001c0001t0013g0088 a0001c0001t0014g0012 a0001c0001t0015g0048 a0001c0001t0015g0098 a0001c0001t0015g0170 a0001c0001t0017g0016 a0001c0001t0017g0164 a0001c0001t0018g0021 a0001c0001t0020g0047 a0001c0001t0020g0140 a0001c0001t0021g0101 a0001c0001t0021g0149 a0001c0001t0021g0163 a0001c0001t0022g0019 a0001c0001t0023g0033 a0001c0001t0023g0141 a0001c0001t0024g0036 a0001c0001t0024g0128 a0001c0001t0025g0037 a0001c0001t0025g0165 a0001c0001t0026g0017 a0001c0001t0027g0042 a0001c0001t0027g0051 a0001c0001t0028g0044 a0001c0001t0028g0132 a0001c0001t0032g0026 a0001c0001t0033g0027 a0001c0001t0034g0028 a0001c0001t0036g0046 a0001c0001t0037g0049 a0001c0001t0039g0032 a0001c0001t0041g0105 a0001c0001t0041g0174 a0001c0001t0042g0035 a0001c0001t0043g0040 a0001c0001t0044g0041 a0001c0001t0045g0099 a0001c0001t0045g0176 a0001c0001t0046g0061 a0001c0001t0046g0062 a0001c0001t0047g0043 a0001c0001t0048g0022 a0001c0001t0049g0023 a0001c0001t0050g0045 a0001c0001t0051g0066 a0001c0001t0052g0067 a0001c0001t0054g0069 a0001c0001t0055g0070 a0001c0001t0057g0072 a0001c0001t0058g0073 a0001c0001t0059g0074 a0001c0001t0060g0089 a0001c0001t0061g0075 a0001c0001t0062g0076 a0001c0001t0063g0077 a0001c0001t0068g0064 a0001c0001t0069g0087 a0001c0001t0070g0082 a0001c0001t0071g0083 a0001c0001t0072g0084 a0001c0001t0073g0085 a0001c0001t0074g0086 a0001c0001t0075g0091 a0001c0001t0076g0152 a0001c0001t0077g0172 a0001c0001t0078g0153 a0001c0001t0079g0173 a0001c0001t0080g0160 a0001c0001t0081g0167 a0001c0001t0083g0100 a0001c0001t0086g0095 a0001c0001t0087g0136 a0001c0001t0089g0137 a0001c0001t0090g0118 a0001c0001t0091g0122 a0001c0001t0092g0123 a0001c0001t0093g0177 a0001c0001t0094g0138 a0001c0001t0096g0124 a0001c0001t0097g0139 a0001c0001t0099g0161 a0001c0001t0100g0162 a0001c0001t0101g0186 a0001c0001t0102g0187 a0001c0001t0104g0102 a0001c0001t0106g0104 a0001c0001t0107g0183 a0001c0001t0108g0188 a0001c0001t0109g0106 a0001c0001t0110g0107 a0001c0001t0112g0189 a0001c0001t0113g0109 a0001c0001t0114g0110 a0001c0001t0115g0111 a0001c0001t0117g0168 a0001c0001t0118g0142 a0001c0001t0120g0143 a0001c0001t0121g0050 a0001c0001t0122g0144 a0001c0001t0123g0145 a0001c0001t0124g0146 a0001c0001t0125g0151 a0001c0001t0126g0166 a0001c0001t0127g0113 a0001c0001t0128g0114 a0001c0001t0129g0154 a0001c0001t0130g0155 a0001c0001t0131g0156 a0001c0001t0132g0157 a0001c0001t0133g0158 a0001c0001t0134g0147 a0001c0001t0136g0175 a0001c0001t0138g0055 a0001c0001t0139g0056 a0001c0001t0140g0057 a0001c0001t0141g0115 a0001c0001t0142g0131 a0001c0001t0143g0058 a0001c0001t0144g0059 a0001c0001t0145g0060 a0001c0001t0146g0116 a0001c0001t0147g0190 a0001c0001t0148g0052 a0001c0001t0149g0053 a0001c0001t0150g0148 a0001c0001t0151g0054 a0001c0001t0152g0159 a0001c0001t0153g0184 a0001c0001t0154g0092	224	379	0.5910	13	c.77 others(24): Show c.7778_*7779insTGGGTCTGAGCCC	SMIM12	ENSG00000163866.9	transcript	ENST00000521580.3	protein_coding		2441		chr1	TogoVar
SMIM13_chr6_11088834_11143733	11089299	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0274 a0001c0001t0006g0274	1	26	0.0385	13	c.-50 others(24): Show c.-5015_-5014insTTTTTTTTTTTTT	SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding		4534		chr6	TogoVar
SMIM13_chr6_11088834_11143733	11117157	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03098.hp1 HG00735.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0029 a0001c0001t0028 a0001c0001t0029	a0001c0001t0028g0176 a0001c0001t0029g0177 a0001c0001t0028g0176 a0001c0001t0029g0177	2	398	0.0050	13	c.77- others(30): Show c.77-17241_77-17240insTTTTTTTTTTTTT	SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM14_chr4_39541336_39643865	39576685	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02735.hp2 NA18950.hp1 NA18971.hp1 others(2): Show HG02735.hp2 NA18950.hp1 NA18971.hp1 NA18985.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0013 a0001c0001t0002 a0001c0001t0013	a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0030 others(2): Show a0001c0001t0002g0022 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0013g0147 a0001c0001t0013g0269	5	278	0.0180	13	c.76- others(28): Show c.76-4223_76-4222insTATATATATATAT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM17_chr19_56638159_56662247	56658693	A A	AAAAAAAA others(6): Show AAAAAAAAAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	273	0.0037	13	c.34 others(24): Show c.3480_*3481insAAAAAAAAAGAAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding		1447		chr19	TogoVar
SMIM17_chr19_56638159_56662247	56659734	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG03540.hp1 HG02055.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0030 a0001c0001t0002 a0001c0001t0030	a0001c0001t0002g0057 a0001c0001t0030g0203 a0001c0001t0002g0057 a0001c0001t0030g0203	2	201	0.0100	13	c.45 others(24): Show c.4521_*4522insTTTTTTTTTTTTT	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding		2488		chr19	TogoVar
SMIM1_chr1_3767749_3780956	3779963	T T	TTTCCCCC others(6): Show TTTCCCCCCAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	418	0.0024	13	c.40 others(24): Show c.4042_*4043insTTCCCCCCAAGAA	SMIM1	ENSG00000235169.11	transcript	ENST00000642557.4	protein_coding		4008		chr1	TogoVar
SMIM21_chr18_75404476_75432703	75414093	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0122 a0001c0001t0002g0122	1	430	0.0023	13	c.261 others(30): Show c.261-3185_261-3184insGTGTGTGTGTGTG	SMIM21	ENSG00000206026.7	transcript	ENST00000579022.5	protein_coding	2/2			chr18	TogoVar
SMIM24_chr19_3468986_3485525	3474224	A A	AAAGTCCA others(6): Show AAAGTCCAGGGCTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0087 a0001c0001t0012g0087	1	420	0.0024	13	c.60 others(22): Show c.606_*618dupGAGCCCTGGACTT	SMIM24	ENSG00000095932.7	transcript	ENST00000215531.6	protein_coding	4/4	618		chr19	TogoVar
SMIM28_chr6_138372905_138388486	138380787	T T	TAAATAAA others(6): Show TAAATAAATAAATA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0043 a0002c0002t0002g0043	1	294	0.0034	13	c.112 others(30): Show c.112-1709_112-1708insAAATAAATAAAAT	SMIM28	ENSG00000262543.2	transcript	ENST00000573100.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMIM2_chr13_44138150_44166257	44154558	A A	ACACACAC others(6): Show ACACACACACTCTT	intron_variant intron_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	31	0.0323	13	c.253 others(30): Show c.253+6044_253+6045insAAGAGTGTGTGTG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding	2/2			chr13	TogoVar
SMIM31_chr4_164749131_164808795	164758801	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02129.hp1 HG02155.hp2 others(11): Show HG01261.hp2 HG02129.hp1 HG02155.hp2 HG02559.hp2 HG02622.hp1 HG03098.hp2 HG03130.hp1 HG03486.hp1 NA18942.hp1 NA18965.hp1 NA18972.hp1 NA18975.hp1 NA19001.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0013 a0001c0002t0002	a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 others(11): Show a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0136 a0001c0001t0002g0005 a0001c0001t0002g0042 a0001c0001t0002g0077 a0001c0001t0002g0151 a0001c0001t0003g0073 a0001c0001t0003g0152 a0001c0001t0003g0241 a0001c0001t0008g0235 a0001c0001t0013g0150 a0001c0002t0002g0046	14	23	0.6087	13	c.-26 others(30): Show c.-26+4418_-26+4430dupTTTTTTTTTTTTT	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164768427	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 NA19067.hp1 HG01192.hp2 NA19067.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0008 a0001c0001t0004 a0001c0001t0008	a0001c0001t0004g0222 a0001c0001t0008g0267 a0001c0001t0004g0222 a0001c0001t0008g0267	2	174	0.0115	13	c.-25 others(30): Show c.-25-1988_-25-1976dupAAAAAAAAAAAAA	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164788478	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01106.hp1 HG01168.hp2 others(44): Show HG00558.hp2 HG01106.hp1 HG01168.hp2 HG01169.hp1 HG01256.hp2 HG01346.hp1 HG02056.hp2 HG02074.hp1 HG02155.hp1 HG02257.hp1 HG02273.hp2 HG02486.hp2 HG02523.hp2 HG02970.hp2 HG03490.hp1 HG03540.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp2 NA18942.hp1 NA18952.hp1 NA18953.hp2 NA18954.hp2 NA18960.hp2 NA18964.hp2 NA18965.hp2 NA18972.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp2 NA18978.hp2 NA18983.hp2 NA18985.hp2 NA18993.hp2 NA18999.hp2 NA19004.hp2 NA19010.hp1 NA19012.hp2 NA19066.hp2 NA19077.hp2 NA19080.hp2 NA19087.hp1 NA19240.hp2 NA20905.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0027 a0001c0002t0006	a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0055 others(44): Show a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0061 a0001c0001t0001g0067 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0092 a0001c0001t0001g0094 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0136 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0250 a0001c0001t0001g0254 a0001c0001t0001g0303 a0001c0001t0001g0315 a0001c0001t0001g0321 a0001c0001t0001g0325 a0001c0001t0002g0282 a0001c0001t0006g0168 a0001c0001t0006g0177 a0001c0001t0006g0180 a0001c0001t0006g0182 a0001c0001t0006g0186 a0001c0001t0006g0188 a0001c0001t0006g0196 a0001c0001t0006g0198 a0001c0001t0007g0233 a0001c0001t0007g0234 a0001c0001t0009g0179 a0001c0001t0027g0053 a0001c0002t0006g0165	47	164	0.2866	13	c.113 others(32): Show c.113-12597_113-12585dupTTTTTTTTTTTTT	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM35_chr11_117998634_118091963	118027016	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18966.hp2 NA18992.hp2 others(6): Show NA18942.hp2 NA18966.hp2 NA18992.hp2 NA19002.hp2 NA19007.hp1 NA19012.hp2 NA19060.hp2 NA19067.hp2 NA19085.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007	a0002c0002t0002g0009 a0002c0002t0002g0162 a0002c0002t0002g0237 others(6): Show a0002c0002t0002g0009 a0002c0002t0002g0162 a0002c0002t0002g0237 a0002c0002t0002g0240 a0002c0002t0002g0242 a0002c0002t0002g0277 a0002c0002t0005g0338 a0002c0002t0005g0354 a0002c0002t0007g0273	9	104	0.0865	13	c.8-1 others(28): Show c.8-11220_8-11208dupAAAAAAAAAAAAA	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118042068	A A	AAAGAGAG others(6): Show AAAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA20300.hp1 HG02976.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0396 a0001c0001t0009g0397 a0001c0001t0009g0396 a0001c0001t0009g0397	2	15	0.1333	13	c.8-2 others(28): Show c.8-26260_8-26259insCTCTCTCTCTCTT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118048946	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG01255.hp1 others(14): Show HG00099.hp1 HG00639.hp1 HG01255.hp1 HG01255.hp2 HG02080.hp1 HG02280.hp1 HG02647.hp2 HG02683.hp1 HG03654.hp2 HG03704.hp2 NA18946.hp2 NA18983.hp2 NA19007.hp2 NA19056.hp1 NA19074.hp1 NA19076.hp2 NA19084.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0002 a0005c0005 a0001c0001 a0002c0002 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0002c0002t0005 a0002c0002t0011 a0002c0002t0036 a0005c0005t0009	a0001c0001t0001g0111 a0001c0001t0003g0114 a0001c0001t0003g0130 others(14): Show a0001c0001t0001g0111 a0001c0001t0003g0114 a0001c0001t0003g0130 a0001c0001t0004g0146 a0001c0001t0008g0370 a0001c0001t0008g0377 a0001c0001t0008g0384 a0001c0001t0008g0385 a0001c0001t0008g0393 a0001c0001t0010g0375 a0001c0001t0010g0376 a0002c0002t0005g0388 a0002c0002t0005g0389 a0002c0002t0011g0367 a0002c0002t0011g0383 a0002c0002t0036g0373 a0005c0005t0009g0381	17	179	0.0950	13	c.8-3 others(28): Show c.8-33150_8-33138dupTTTTTTTTTTTTT	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM3_chr5_150773757_150801734	150797329	T T	TTTTTTTT others(6): Show TTTTTTTTTTTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	355	0.0028	13	c.17 others(24): Show c.1706_*1707insTTTTTTTTTTTTC	SMIM3	ENSG00000256235.3	transcript	ENST00000526627.2	protein_coding		596		chr5	TogoVar
SMIM46_chr19_14107324_14117476	14109961	A A	ATATATAT others(6): Show ATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	331	0.0030	13	c.23 others(24): Show c.2362_*2363insATATATATATATA	SMIM46	ENSG00000289762.1	transcript	ENST00000699221.1	protein_coding		2362		chr19	TogoVar
SMKR1_chr7_129497531_129517918	129499488	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp2 HG02280.hp1 NA19240.hp1 HG02257.hp2 HG02280.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	3	37	0.0811	13	c.-33 others(24): Show c.-3337_-3336insTTTTTTTTTTTTT	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		3042		chr7	TogoVar
SMN1_chr5_70920087_70958015	70936151	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02109.hp2 HG02145.hp2 others(6): Show HG01167.hp2 HG02109.hp2 HG02145.hp2 HG02486.hp1 HG02922.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0002 a0001c0001t0002 a0002c0003t0002	a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0013 others(5): Show a0001c0001t0002g0003 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0028 a0001c0001t0002g0029 a0001c0001t0002g0032 a0002c0003t0002g0031	9	13	0.6923	13	c.82- others(28): Show c.82-2684_82-2672dupTTTTTTTTTTTTT	SMN1	ENSG00000172062.17	transcript	ENST00000380707.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr5	TogoVar
SMOC1_chr14_69874416_70037366	69908192	G G	GACCCATT others(6): Show GACCCATTTGTAGA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03471.hp2 HG03041.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0125 a0001c0001t0001g0086 a0001c0001t0001g0125	2	268	0.0075	13	c.99+ others(30): Show c.99+28415_99+28416insACCCATTTGTAGA	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11			chr14	TogoVar
SMOC2_chr6_168436184_168672992	168523079	A A	ATTCTTTT others(6): Show ATTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00609.hp2 others(31): Show HG00099.hp2 HG00280.hp2 HG00609.hp2 HG00673.hp1 HG01069.hp1 HG01081.hp1 HG01256.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01952.hp2 HG02004.hp2 HG02074.hp2 HG02083.hp1 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02735.hp1 HG02738.hp2 HG03492.hp1 HG03654.hp2 HG03834.hp1 HG04199.hp2 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18944.hp1 NA18951.hp2 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA18990.hp2 NA20752.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0002t0002 a0001c0002t0007 a0001c0002t0013 a0001c0003t0001	a0001c0001t0001g0072 a0001c0001t0001g0091 a0001c0001t0001g0092 others(31): Show a0001c0001t0001g0072 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0158 a0001c0001t0003g0085 a0001c0001t0003g0109 a0001c0001t0003g0116 a0001c0001t0003g0120 a0001c0001t0003g0135 a0001c0001t0004g0118 a0001c0001t0004g0122 a0001c0002t0002g0011 a0001c0002t0002g0012 a0001c0002t0002g0013 a0001c0002t0002g0028 a0001c0002t0002g0060 a0001c0002t0002g0061 a0001c0002t0002g0065 a0001c0002t0007g0016 a0001c0002t0013g0062 a0001c0003t0001g0155	34	62	0.5484	13	c.257 others(30): Show c.257-3265_257-3264insCTTTTTTTTTTTT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMO_chr7_129183633_129218545	129193779	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	401	0.0025	13	c.331 others(30): Show c.331+4297_331+4298insTATATATATATAT	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11			chr7	TogoVar
SMO_chr7_129183633_129218545	129193781	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02040.hp1 HG02155.hp1 others(1): Show HG01433.hp1 HG02040.hp1 HG02155.hp1 HG02293.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0215 a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0215	4	371	0.0108	13	c.331 others(30): Show c.331+4299_331+4300insTATATATATATAT	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11			chr7	TogoVar
SMO_chr7_129183633_129218545	129193783	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA18982.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	351	0.0028	13	c.331 others(30): Show c.331+4301_331+4302insTATATATATATAT	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11			chr7	TogoVar
SMO_chr7_129183633_129218545	129193785	A A	AAAAAAAT others(6): Show AAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18959.hp2 NA18959.hp2	a0009 a0009	a0009c0015 a0009c0015	a0009c0015t0007 a0009c0015t0007	a0009c0015t0007g0053 a0009c0015t0007g0053	1	228	0.0044	13	c.331 others(30): Show c.331+4304_331+4305insAAAAATATATATA	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMO_chr7_129183633_129218545	129193785	A A	ATATATAT others(6): Show ATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	228	0.0044	13	c.331 others(30): Show c.331+4303_331+4304insTATATATATATAT	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11			chr7	TogoVar
SMPD4_chr2_130146408_130186602	130170458	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02647.hp1 others(9): Show HG02055.hp1 HG02622.hp2 HG02647.hp1 HG02886.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG06807.hp1 NA20300.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0001c0007 a0002c0003 others(1): Show a0001c0001 a0001c0007 a0002c0003 a0010c0014	a0001c0001t0003 a0001c0007t0003 a0002c0003t0002 others(1): Show a0001c0001t0003 a0001c0007t0003 a0002c0003t0002 a0010c0014t0002	a0001c0001t0003g0027 a0001c0001t0003g0058 a0001c0001t0003g0059 others(7): Show a0001c0001t0003g0027 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0241 a0001c0007t0003g0028 a0001c0007t0003g0134 a0001c0007t0003g0135 a0002c0003t0002g0226 a0002c0003t0002g0227 a0010c0014t0002g0232	12	153	0.0784	13	c.659 others(30): Show c.659+1878_659+1890dupTTTTTTTTTTTTT	SMPD4	ENSG00000136699.20	transcript	ENST00000680298.1	protein_coding	8/19			chr2	TogoVar
SMPD4_chr2_130146408_130186602	130185491	A A	AAAGAAAA others(6): Show AAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 NA18906.hp2 HG02922.hp1 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0030 a0001c0002t0002g0030	2	201	0.0100	13	c.-40 others(24): Show c.-4008_-4007insCTTTTCTTTTCTT	SMPD4	ENSG00000136699.20	transcript	ENST00000680298.1	protein_coding		3890		chr2	TogoVar
SMR3A_chr4_70355760_70372158	70362561	A A	AATAAGAG others(6): Show AATAAGAGTATCCC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01167.hp1 HG01167.hp2 others(42): Show HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02004.hp2 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03195.hp1 HG03225.hp2 HG03540.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0005 a0001c0001t0002g0005	45	456	0.0987	13	c.54+ others(26): Show c.54+396_54+397insGAGTATCCCATAA	SMR3A	ENSG00000109208.5	transcript	ENST00000226460.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMS_chrX_21935709_21999837	21944522	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0122 a0001c0001t0006g0122	1	157	0.0064	13	c.49+ others(28): Show c.49+3660_49+3672dupAAAAAAAAAAAAA	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(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00639.hp2 others(21): Show HG00099.hp1 HG00408.hp2 HG00639.hp2 HG01361.hp2 HG02040.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02155.hp2 HG02165.hp1 HG02809.hp1 HG02922.hp1 HG03688.hp1 HG03942.hp1 NA18963.hp1 NA18972.hp1 NA18973.hp1 NA18990.hp1 NA18992.hp2 NA19001.hp1 NA19011.hp2 NA19057.hp2 NA19063.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0030 a0001c0001t0001g0087 a0001c0001t0002g0035 others(21): Show a0001c0001t0001g0030 a0001c0001t0001g0087 a0001c0001t0002g0035 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0192 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0209 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0002g0213 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0004g0144 a0001c0001t0004g0166	24	114	0.2105	13	c.49+ others(28): Show c.49+7571_49+7583dupTTTTTTTTTTTTT	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21980429	A A	AAAAATAT others(6): Show AAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG01943.hp1 others(4): Show HG00099.hp1 HG00408.hp2 HG01943.hp1 NA18990.hp1 NA19011.hp2 NA19078.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0037 a0001c0001t0002g0180 a0001c0001t0002g0184 others(4): Show a0001c0001t0001g0037 a0001c0001t0002g0180 a0001c0001t0002g0184 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0201 a0001c0001t0002g0205	7	108	0.0648	13	c.750 others(30): Show c.750+1464_750+1465insAAATATATATATA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	7/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21988662	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01074.hp1 HG02976.hp2 others(6): Show HG00323.hp1 HG01074.hp1 HG02976.hp2 HG03195.hp2 HG03704.hp1 NA18940.hp1 NA18995.hp1 NA19080.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0120 a0001c0001t0001g0218 a0001c0001t0001g0227 others(6): Show a0001c0001t0001g0120 a0001c0001t0001g0218 a0001c0001t0001g0227 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0269 a0001c0001t0002g0278	9	12	0.7500	13	c.945 others(30): Show c.945+3457_945+3469dupAAAAAAAAAAAAA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMTN_chr22_31076318_31109624	31101809	T T	TGACCTTC others(6): Show TGACCTTCCTCCTG	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01175.hp1 HG02615.hp1 others(2): Show HG00733.hp2 HG01175.hp1 HG02615.hp1 HG02738.hp2 NA20752.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0003 a0003c0007t0003	a0003c0007t0003g0029 a0003c0007t0003g0174 a0003c0007t0003g0176 a0003c0007t0003g0029 a0003c0007t0003g0174 a0003c0007t0003g0176	5	360	0.0139	13	c.20 others(28): Show c.20+760_*20+761insGACCTTCCTCCTG	SMTN	ENSG00000183963.19	transcript	ENST00000333137.12	protein_coding	20/20			chr22	TogoVar
SMTN_chr22_31076318_31109624	31107583	G G	GCCCCGCC others(6): Show GCCCCGCCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19006.hp2 NA19006.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0046 a0003c0003t0001g0046	1	180	0.0056	13	c.32 others(24): Show c.3288_*3289insCCCCGCCCCCCGC	SMTN	ENSG00000183963.19	transcript	ENST00000333137.12	protein_coding		2960		chr22	TogoVar
SMTN_chr22_31076318_31109624	31107588	G G	GCCCCCGC others(6): Show GCCCCCGCCCCCGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0056 a0001c0001t0008g0056	1	360	0.0028	13	c.32 others(24): Show c.3293_*3294insCCCCCGCCCCCGC	SMTN	ENSG00000183963.19	transcript	ENST00000333137.12	protein_coding		2965		chr22	TogoVar
SMU1_chr9_33036765_33081674	33066505	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01975.hp2 NA19059.hp2 HG01975.hp2 NA19059.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0014 a0001c0002t0006 a0001c0002t0014	a0001c0002t0006g0131 a0001c0002t0014g0137 a0001c0002t0006g0131 a0001c0002t0014g0137	2	5	0.4000	13	c.501 others(30): Show c.501+2306_501+2318dupTTTTTTTTTTTTT	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding	4/11			chr9	TogoVar
SMURF1_chr7_99022440_99149108	99038099	T T	TCCTTTGC others(6): Show TCCTTTGCCCCCCA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18747.hp1 NA19009.hp2 HG00621.hp2 NA18747.hp1 NA19009.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0072 a0001c0002t0001g0076 a0001c0002t0001g0014 a0001c0002t0001g0072 a0001c0002t0001g0076	3	262	0.0115	13	c.168 others(30): Show c.1688+276_1688+288dupTGGGGGGCAAAGG	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	14/17			chr7	TogoVar
SMURF2_chr17_64537282_64667307	64566561	G G	GTTTGTTT others(6): Show GTTTGTTTGTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0007 a0001c0002t0004g0007	1	42	0.0238	13	c.101 others(32): Show c.1017-3596_1017-3595insAAAAACAAACAAA	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	10/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64566561	G G	GTTTGTTT others(6): Show GTTTGTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0013 a0001c0002t0004g0013	1	42	0.0238	13	c.101 others(32): Show c.1017-3596_1017-3595insAAAAAAAAACAAA	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	10/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64566561	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02258.hp2 HG02602.hp2 others(1): Show HG00438.hp1 HG02258.hp2 HG02602.hp2 NA21309.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0008 a0001c0001 a0004c0008	a0001c0001t0001 a0004c0008t0022 a0001c0001t0001 a0004c0008t0022	a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0099 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0065 a0001c0001t0001g0099 a0004c0008t0022g0148	4	45	0.0889	13	c.101 others(32): Show c.1017-3608_1017-3596dupAAAAAAAAAAAAA	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	10/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64631281	G G	GGGAGAGA others(6): Show GGGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0053	1	67	0.0149	13	c.53- others(30): Show c.53-24642_53-24641insTCTCTCTCTCTCC	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18			chr17	TogoVar
SMURF2_chr17_64537282_64667307	64637923	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0002 a0001c0001t0015g0002	1	64	0.0156	13	c.52+ others(30): Show c.52+23893_52+23905dupTTTTTTTTTTTTT	SMURF2	ENSG00000108854.16	transcript	ENST00000262435.14	protein_coding	1/18			chr17	TogoVar

Search by Variant

Search

Search Results