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
SLTM_chr15_58874050_58938679	58882181	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00639.hp1 HG01123.hp1 others(1): Show HG00423.hp2 HG00639.hp1 HG01123.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0104 a0001c0001t0002g0296 a0001c0002t0001g0086 others(1): Show a0001c0001t0001g0104 a0001c0001t0002g0296 a0001c0002t0001g0086 a0001c0002t0001g0087	4	34	0.1176	26	c.299 others(45): Show c.2996+1444_2996+1445insTTTTTTTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	20/20			chr15	TogoVar
SLTM_chr15_58874050_58938679	58922377	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0095 a0001c0002t0001g0095	1	13	0.0769	26	c.251 others(43): Show c.251-5379_251-5378insTTTTTTTTTTTTTTTTTTTTTTTTTT	SLTM	ENSG00000137776.17	transcript	ENST00000380516.7	protein_coding	2/20			chr15	TogoVar
SMAD2_chr18_47803957_47935659	47830576	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0303 a0001c0002t0056g0303	1	23	0.0435	26	c.11 others(39): Show c.11250_*11251insTTTTTTTTTTTTTTTTTTTTTTTTTT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	11/11	11250		chr18	TogoVar
SMAD2_chr18_47803957_47935659	47850590	T T	TATATTAT others(19): Show TATATTATAGTATATATATATTATATA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	307	0.0033	26	c.784 others(41): Show c.784+683_784+684insTATATAATATATATATACTATAATAT	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	7/10			chr18	TogoVar
SMAD2_chr18_47803957_47935659	47879495	C C	CGTGTGTG others(19): Show CGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19068.hp2 NA19005.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0169 a0001c0001t0026 a0001c0001t0169	a0001c0001t0026g0163 a0001c0001t0169g0133 a0001c0001t0026g0163 a0001c0001t0169g0133	2	79	0.0253	26	c.237 others(43): Show c.237-8957_237-8932dupACACACACACACACACACACACACAC	SMAD2	ENSG00000175387.16	transcript	ENST00000262160.11	protein_coding	2/10			chr18	TogoVar
SMAD3_chr15_67060602_67200169	67195670	C C	CCCACAGG others(19): Show CCCACAGGCATGGAGGTTCACAAGTAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp2 HG02155.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0031 a0001c0001t0031	a0001c0001t0031g0076 a0001c0001t0031g0076	1	308	0.0032	26	c.51 others(37): Show c.5134_*5135insCCACAGGCATGGAGGTTCACAAGTAA	SMAD3	ENSG00000166949.17	transcript	ENST00000327367.9	protein_coding		502		chr15	TogoVar
SMAD4_chr18_51025213_51090042	51073388	T T	TATATATA others(19): Show TATATATATATACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0028 a0001c0001t0024g0028	1	154	0.0065	26	c.130 others(45): Show c.1309-3249_1309-3248insTATATATATACACACACACACACACA	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD4_chr18_51025213_51090042	51073388	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0027 a0001c0001t0006g0027	1	154	0.0065	26	c.130 others(45): Show c.1309-3249_1309-3248insTATATATATATATATATACACACACA	SMAD4	ENSG00000141646.16	transcript	ENST00000342988.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCTCAC others(19): Show TCTCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18947.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	84	0.0119	26	c.743 others(43): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGTGTGTGAGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCTCTC others(19): Show TCTCTCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA19001.hp2 NA18951.hp2 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0362 a0001c0001t0004g0055 a0001c0001t0001g0362 a0001c0001t0004g0055	2	85	0.0235	26	c.743 others(43): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGTGTGAGAGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMAD7_chr18_48914853_48955965	48929569	T T	TCTCTCTC others(19): Show TCTCTCTCTCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0238 a0001c0001t0002g0238	1	84	0.0119	26	c.743 others(43): Show c.743-7660_743-7659insTGTGTGTGTGTGTGTGTGAGAGAGAG	SMAD7	ENSG00000101665.10	transcript	ENST00000262158.8	protein_coding	3/3			chr18	TogoVar
SMARCB1_chr22_23781966_23843009	23799679	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0259 a0001c0002t0003g0259	1	60	0.0167	26	c.363 others(43): Show c.363-1242_363-1241insTTTTTTTTTTTTTTTTTTTTTTTTTT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
SMARCB1_chr22_23781966_23843009	23839391	A A	AGGGCGGG others(19): Show AGGGCGGGGCGCGTGGGCGGGGCGCGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp1 HG00642.hp2 HG00735.hp1 others(4): Show HG00323.hp1 HG00642.hp2 HG00735.hp1 HG00738.hp2 HG01993.hp1 HG03471.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 others(1): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0001c0001t0026	a0001c0001t0004g0060 a0001c0001t0004g0073 a0001c0001t0004g0075 others(4): Show a0001c0001t0004g0060 a0001c0001t0004g0073 a0001c0001t0004g0075 a0001c0001t0004g0076 a0001c0001t0005g0239 a0001c0001t0013g0029 a0001c0001t0026g0074	7	249	0.0281	26	c.52 others(37): Show c.5211_*5212insGGGCGGGGCGCGTGGGCGGGGCGCGT	SMARCB1	ENSG00000099956.20	transcript	ENST00000644036.2	protein_coding		1383		chr22	TogoVar
SMARCC1_chr3_47580269_47786893	47749670	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02015.hp2 HG02258.hp1 others(6): Show HG01891.hp1 HG02015.hp2 HG02258.hp1 HG02738.hp1 HG03471.hp1 HG03540.hp1 HG04115.hp2 HG04204.hp1 NA18747.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0006 a0001c0001 a0001c0002 a0003c0006	a0001c0001t0002 a0001c0002t0002 a0003c0006t0002 a0001c0001t0002 a0001c0002t0002 a0003c0006t0002	a0001c0001t0002g0003 a0001c0001t0002g0096 a0001c0001t0002g0131 others(6): Show a0001c0001t0002g0003 a0001c0001t0002g0096 a0001c0001t0002g0131 a0001c0001t0002g0142 a0001c0001t0002g0144 a0001c0001t0002g0168 a0001c0002t0002g0093 a0001c0002t0002g0103 a0003c0006t0002g0002	9	36	0.2500	26	c.316 others(43): Show c.316-3678_316-3677insGTGTGTGTGTGTGTGTGTGTGTGTGT	SMARCC1	ENSG00000173473.11	transcript	ENST00000254480.10	protein_coding	2/27			chr3	TogoVar
SMC1A_chrX_53369149_53427654	53402868	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18974.hp1 NA18974.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	10	0.1000	26	c.242 others(43): Show c.2420+697_2420+698insTTTTTTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	15/24			chrX	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02922.hp1 HG02109.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0008 a0001c0001t0001 a0001c0002t0008	a0001c0001t0001g0104 a0001c0002t0008g0096 a0001c0001t0001g0104 a0001c0002t0008g0096	2	73	0.0274	26	c.125 others(43): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMC6_chr2_17658812_17758810	17739879	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	32	0.0313	26	c.239 others(43): Show c.239-1579_239-1554dupGTGTGTGTGTGTGTGTGTGTGTGTGT	SMC6	ENSG00000163029.16	transcript	ENST00000448223.7	protein_coding	4/27			chr2	TogoVar
SMCHD1_chr18_2650726_2810017	2684700	A A	AGTGTGTG others(19): Show AGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18973.hp1 NA18955.hp1 NA18973.hp1	a0002 a0003 a0002 a0003	a0002c0006 a0003c0011 a0002c0006 a0003c0011	a0002c0006t0015 a0003c0011t0003 a0002c0006t0015 a0003c0011t0003	a0002c0006t0015g0146 a0003c0011t0003g0147 a0002c0006t0015g0146 a0003c0011t0003g0147	2	39	0.0513	26	c.639 others(43): Show c.639-3686_639-3661dupTGTGTGTGTGTGTGTGTGTGTGTGTG	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708867	C C	CATATATA others(19): Show CATATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 NA19067.hp1 HG02056.hp2 NA19067.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0092 a0003c0003t0003g0133 a0003c0003t0003g0092 a0003c0003t0003g0133	2	276	0.0072	26	c.226 others(43): Show c.2260+954_2260+955insCATATATATATATATATATATATATA	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(19): Show TATATATATATATATATATATAAATAA	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0079 a0003c0003t0003g0079	1	66	0.0152	26	c.226 others(43): Show c.2260+988_2260+989insTATATATATATATATATATAAATAAA	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(19): Show TATATATATATATATATATATATAAAA	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0075 a0003c0003t0003g0075	1	66	0.0152	26	c.226 others(43): Show c.2260+988_2260+989insTATATATATATATATATATATAAAAA	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(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02155.hp1 NA18943.hp2 others(4): Show HG01109.hp2 HG02155.hp1 NA18943.hp2 NA18969.hp2 NA18972.hp1 NA18990.hp1 NA20905.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0004 a0001c0009 a0003c0003 others(2): Show a0001c0004 a0001c0009 a0003c0003 a0003c0011 a0005c0014	a0001c0004t0001 a0001c0009t0002 a0003c0003t0003 others(2): Show a0001c0004t0001 a0001c0009t0002 a0003c0003t0003 a0003c0011t0025 a0005c0014t0003	a0001c0004t0001g0139 a0001c0004t0001g0153 a0001c0009t0002g0212 others(4): Show a0001c0004t0001g0139 a0001c0004t0001g0153 a0001c0009t0002g0212 a0003c0003t0003g0066 a0003c0003t0003g0083 a0003c0011t0025g0253 a0005c0014t0003g0084	7	72	0.0972	26	c.226 others(43): Show c.2260+988_2260+989insTATATATATATATATATATATATAAA	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(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01952.hp1 HG02135.hp2 others(1): Show HG01255.hp2 HG01952.hp1 HG02135.hp2 HG04228.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0031 a0001c0002t0001 a0001c0002t0031	a0001c0002t0001g0182 a0001c0002t0001g0196 a0001c0002t0001g0205 others(1): Show a0001c0002t0001g0182 a0001c0002t0001g0196 a0001c0002t0001g0205 a0001c0002t0031g0207	4	256	0.0156	26	c.226 others(45): Show c.2260+1313_2260+1314insGTATATATATATATATATATATATAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2768688	C C	CTAGTATA others(19): Show CTAGTATAGTACTATATACTATACTAG	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0185 a0001c0002t0001g0185	1	283	0.0035	26	c.472 others(43): Show c.4720-981_4720-980insGTAGTATAGTACTATATACTATACTA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	37/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMG1_chr16_18799860_18931408	18844570	T T	TCACACAC others(19): Show TCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01169.hp1 HG01192.hp2 others(9): Show HG00642.hp1 HG01169.hp1 HG01192.hp2 HG01257.hp1 HG01361.hp1 HG01496.hp1 HG01993.hp2 HG02630.hp2 HG02922.hp1 HG03490.hp2 HG03492.hp1 HG04184.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0010 a0002c0005 a0001c0007 a0001c0010 a0002c0005	a0001c0007t0003 a0001c0007t0028 a0001c0010t0003 others(2): Show a0001c0007t0003 a0001c0007t0028 a0001c0010t0003 a0001c0010t0026 a0002c0005t0003	a0001c0007t0003g0206 a0001c0007t0028g0218 a0001c0010t0003g0205 others(9): Show a0001c0007t0003g0206 a0001c0007t0028g0218 a0001c0010t0003g0205 a0001c0010t0026g0188 a0002c0005t0003g0182 a0002c0005t0003g0184 a0002c0005t0003g0185 a0002c0005t0003g0186 a0002c0005t0003g0194 a0002c0005t0003g0195 a0002c0005t0003g0197 a0002c0005t0003g0211	12	151	0.0795	26	c.621 others(43): Show c.6219+858_6219+859insTGTGTGTGTGTGTGTGTGTGTGTGTG	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMG6_chr17_2054843_2308785	2066652	T T	TACACACA others(19): Show TACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	6	0.1667	26	c.383 others(43): Show c.3836-999_3836-974dupGTGTGTGTGTGTGTGTGTGTGTGTGT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	16/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA18964.hp1 NA20805.hp1 HG02071.hp1 NA18964.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0017 a0002c0002t0001g0039 a0002c0002t0005g0074 a0002c0002t0001g0017 a0002c0002t0001g0039 a0002c0002t0005g0074	3	89	0.0337	26	c.335 others(47): Show c.3357+42391_3357+42392insTTTTTTTTTTTTTTTTTTTTTTTT TT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(19): Show TATATATATATATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0019 a0001c0001t0008g0019	1	73	0.0137	26	c.67 others(37): Show c.6765_*6766insGTGTGTGTGTGTGTATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(19): Show TATATATATATATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02818.hp1 HG02622.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0016 a0001c0001t0002 a0001c0001t0016	a0001c0001t0002g0003 a0001c0001t0016g0048 a0001c0001t0002g0003 a0001c0001t0016g0048	2	74	0.0270	26	c.67 others(37): Show c.6765_*6766insGTGTGTGTGTGTATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(19): Show TATATATATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG02015.hp2 HG03195.hp1 others(1): Show HG00408.hp1 HG02015.hp2 HG03195.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0009 a0001c0001t0003g0046 a0001c0001t0003g0059 a0001c0001t0002g0009 a0001c0001t0003g0046 a0001c0001t0003g0059	4	76	0.0526	26	c.67 others(37): Show c.6765_*6766insGTGTGTGTATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(19): Show TATATATATATATATATATATACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0055 a0001c0007t0002g0055	1	73	0.0137	26	c.67 others(37): Show c.6765_*6766insGTGTGTATATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43752902	T T	TAAAAAAA others(19): Show TAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00621.hp1 HG01081.hp1 others(19): Show HG00099.hp2 HG00621.hp1 HG01081.hp1 HG01106.hp2 HG02040.hp2 HG02257.hp1 HG02897.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03516.hp2 HG03579.hp2 HG03942.hp2 NA18950.hp2 NA18973.hp2 NA18994.hp1 NA19060.hp2 NA19064.hp2 NA19086.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0009 a0001c0001t0017 a0001c0001t0033 a0001c0001t0034 a0001c0001t0036	a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0002g0035 others(15): Show a0001c0001t0002g0011 a0001c0001t0002g0022 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0078 a0001c0001t0003g0023 a0001c0001t0003g0059 a0001c0001t0003g0063 a0001c0001t0003g0079 a0001c0001t0003g0083 a0001c0001t0009g0064 a0001c0001t0017g0057 a0001c0001t0033g0061 a0001c0001t0034g0060 a0001c0001t0036g0058	22	219	0.1005	26	c.-7+ others(41): Show c.-7+1751_-7+1752insTTTTTTTTTTTTTTTTTTTTTTTTTT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding	1/13			chr19	TogoVar
SMIM10L1_chr12_11166194_11181016	11166785	G G	GAAGTCTG others(19): Show GAAGTCTGGTATTTGTCTTACTAAGCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	26	c.-45 others(37): Show c.-4572_-4571insAAGTCTGGTATTTGTCTTACTAAGCT	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		4408		chr12	TogoVar
SMIM10L2B_chrX_135089985_135103712	135101219	T T	TAATTTTA others(19): Show TAATTTTAAAGATTTACTCATTCTCAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	301	0.0033	26	c.-25 others(37): Show c.-2587_-2586insTTGAGAATGAGTAAATCTTTAAAATT	SMIM10L2B	ENSG00000196972.9	transcript	ENST00000433425.4	protein_coding		2508		chrX	TogoVar
SMIM11_chr21_34370507_34394151	34393118	C C	CCACCCTG others(19): Show CCACCCTGTGACCTACTCTTCACTCAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG01952.hp1 HG03041.hp2 others(4): Show HG01074.hp1 HG01952.hp1 HG03041.hp2 HG03139.hp2 HG03471.hp2 HG03540.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0002 a0001c0001t0010 a0001c0003t0001 others(1): Show a0001c0001t0002 a0001c0001t0010 a0001c0003t0001 a0002c0002t0002	a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0010g0051 others(4): Show a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0010g0051 a0001c0003t0001g0038 a0002c0002t0002g0049 a0002c0002t0002g0054 a0002c0002t0002g0055	7	127	0.0551	26	c.44 others(37): Show c.4492_*4493insCACCCTGTGACCTACTCTTCACTCAA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3968		chr21	TogoVar
SMIM11_chr21_34370507_34394151	34393122	C C	CCTGTGAC others(19): Show CCTGTGACCTACTCTTCACTCAACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG01975.hp2 HG02622.hp2 others(6): Show HG00735.hp1 HG01975.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02922.hp2 HG03225.hp1 HG03471.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 others(3): Show a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0014 a0001c0001t0001g0056 a0001c0001t0005g0050	9	128	0.0703	26	c.44 others(37): Show c.4496_*4497insCTGTGACCTACTCTTCACTCAACACA	SMIM11	ENSG00000205670.12	transcript	ENST00000399292.8	protein_coding		3972		chr21	TogoVar
SMIM14_chr4_39541336_39643865	39576660	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	63	0.0159	26	c.76- others(41): Show c.76-4198_76-4197insTATATATATATATATATATATATACA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39619190	T T	TTAATTTA others(19): Show TTAATTTATTCTATATATCAATAAATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03471.hp1 NA20805.hp2 HG02486.hp1 HG03471.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0007 a0001c0001t0028 a0001c0001t0004 a0001c0001t0007 a0001c0001t0028	a0001c0001t0004g0267 a0001c0001t0007g0333 a0001c0001t0028g0048 a0001c0001t0004g0267 a0001c0001t0007g0333 a0001c0001t0028g0048	3	335	0.0090	26	c.-35 others(45): Show c.-35-14036_-35-14011dupTATTTATTGATATATAGAATAAATTA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39619528	C C	CTATATCA others(19): Show CTATATCAATAAATATAATTTATTCTA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp2 HG00733.hp2 others(34): Show HG00423.hp2 HG00558.hp2 HG00733.hp2 HG01069.hp2 HG01071.hp1 HG01123.hp2 HG01243.hp1 HG01433.hp2 HG02015.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02165.hp1 HG02300.hp1 HG02523.hp2 HG02602.hp2 HG02615.hp1 HG03017.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp2 HG03688.hp1 HG03710.hp1 HG03831.hp1 HG04184.hp1 NA18950.hp1 NA18975.hp2 NA18982.hp1 NA18992.hp2 NA19000.hp1 NA19004.hp2 NA19068.hp1 NA19070.hp2 NA19084.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(9): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0020 a0001c0001t0026 a0001c0001t0043	a0001c0001t0001g0284 a0001c0001t0001g0296 a0001c0001t0004g0010 others(33): Show a0001c0001t0001g0284 a0001c0001t0001g0296 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0079 a0001c0001t0004g0253 a0001c0001t0004g0265 a0001c0001t0004g0266 a0001c0001t0004g0274 a0001c0001t0004g0276 a0001c0001t0004g0279 a0001c0001t0004g0283 a0001c0001t0004g0287 a0001c0001t0004g0288 a0001c0001t0005g0261 a0001c0001t0005g0272 a0001c0001t0005g0292 a0001c0001t0005g0310 a0001c0001t0006g0067 a0001c0001t0006g0255 a0001c0001t0006g0280 a0001c0001t0006g0305 a0001c0001t0006g0306 a0001c0001t0007g0086 a0001c0001t0007g0262 a0001c0001t0009g0173 a0001c0001t0010g0295 a0001c0001t0012g0281 a0001c0001t0013g0003 a0001c0001t0013g0264 a0001c0001t0013g0269 a0001c0001t0020g0338 a0001c0001t0020g0340 a0001c0001t0026g0307 a0001c0001t0043g0339	37	137	0.2701	26	c.-35 others(45): Show c.-35-14374_-35-14349dupTAGAATAAATTATATTTATTGATATA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	1/4			chr4	TogoVar
SMIM17_chr19_56638159_56662247	56658693	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAAAAAAAGAAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG02004.hp1 HG02258.hp1 others(9): Show HG01109.hp2 HG02004.hp1 HG02258.hp1 HG02622.hp2 HG02717.hp1 HG02809.hp1 HG02818.hp1 HG03471.hp2 HG03540.hp2 NA19030.hp2 NA19043.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0010 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0025	a0001c0001t0001g0001 a0001c0001t0006g0197 a0001c0001t0010g0021 others(5): Show a0001c0001t0001g0001 a0001c0001t0006g0197 a0001c0001t0010g0021 a0001c0001t0014g0072 a0001c0001t0015g0185 a0001c0001t0016g0046 a0001c0001t0016g0125 a0001c0001t0025g0029	12	284	0.0423	26	c.34 others(37): Show c.3480_*3481insAAAAAAAAAAAAAAAAAAAAAAGAAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding		1447		chr19	TogoVar
SMIM29_chr6_34241395_34254006	34243333	C C	CTTGGGTG others(19): Show CTTGGGTGGGCCTGTTGGGTGAGAGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG03195.hp2 others(3): Show HG02630.hp2 HG02717.hp1 HG03195.hp2 HG03225.hp2 HG03540.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	6	352	0.0170	26	c.34 others(37): Show c.3444_*3469dupCACTCTCACCCAACAGGCCCACCCAA	SMIM29	ENSG00000186577.14	transcript	ENST00000476320.6	protein_coding		3061		chr6	TogoVar
SMIM35_chr11_117998634_118091963	118045330	G G	GCACACAC others(19): Show GCACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	113	0.0088	26	c.8-2 others(41): Show c.8-29547_8-29522dupTGTGTGTGTGTGTGTGTGTGTGTGTG	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM36_chr17_55444856_55516452	55448034	T T	TTTTATAT others(19): Show TTTTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0234 a0001c0001t0002g0234	1	153	0.0065	26	c.27 others(37): Show c.2795_*2796insTATATATATATATATATATATATAAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding		1821		chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501149	T T	TTTATAAT others(19): Show TTTATAATATATAATATATCTTATATA	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	336	0.0030	26	c.17 others(45): Show c.174+9704_*174+9729dupTATATAAGATATATTATATATTATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501159	A A	ATAATATA others(19): Show ATAATATATCTTATATTTTATAATATG	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0101 a0001c0001t0007g0101	1	338	0.0030	26	c.17 others(45): Show c.174+9719_*174+9720insCATATTATAAAATATAAGATATATTA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM36_chr17_55444856_55516452	55501194	C C	CTTATATA others(19): Show CTTATATATTATAATATATAATATATA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0134 a0001c0001t0001g0134	1	142	0.0070	26	c.17 others(45): Show c.174+9659_*174+9684dupTATATATTATATATTATAATATATAA	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMOC2_chr6_168436184_168672992	168599581	A A	ACACACAC others(19): Show ACACACACCCACACACACACATACCCC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0158 a0001c0001t0001g0158	1	12	0.0833	26	c.824 others(41): Show c.824+591_824+592insCACACATACCCCCACACACCCACACA	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168613773	G G	GCCTCTTC others(19): Show GCCTCTTCTCCTAGAGCCAGCACAGGA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01978.hp1 NA18944.hp2 others(1): Show HG01069.hp1 HG01978.hp1 NA18944.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0002 a0001c0001t0003 a0001c0002t0002	a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0002t0002g0019 others(1): Show a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0002t0002g0019 a0001c0002t0002g0020	4	178	0.0225	26	c.907 others(43): Show c.907+5541_907+5542insTCCTAGAGCCAGCACAGGACCTCTTC	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168614572	G G	GGTCTCTT others(19): Show GGTCTCTTCATACTTACAGCCGGCACA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01978.hp1 HG03209.hp2 others(2): Show HG01069.hp1 HG01978.hp1 HG03209.hp2 NA18944.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0011 a0001c0001 a0001c0002 a0001c0011	a0001c0001t0003 a0001c0002t0002 a0001c0011t0006 a0001c0001t0003 a0001c0002t0002 a0001c0011t0006	a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0002t0002g0019 others(2): Show a0001c0001t0003g0090 a0001c0001t0003g0109 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0011t0006g0167	5	178	0.0281	26	c.907 others(43): Show c.907+6334_907+6335insTCTCTTCATACTTACAGCCGGCACAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMOC2_chr6_168436184_168672992	168614602	G G	GGCCTCTT others(19): Show GGCCTCTTCACACCTACAGCCAGCACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00423.hp2 HG00741.hp2 others(19): Show HG00280.hp2 HG00423.hp2 HG00741.hp2 HG01069.hp2 HG01081.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp2 HG01516.hp2 HG01891.hp2 HG02004.hp1 HG02074.hp1 HG02135.hp2 HG02602.hp1 HG02735.hp2 HG03654.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18950.hp2 NA18960.hp2 NA19079.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0002c0010 others(1): Show a0001c0001 a0001c0002 a0002c0010 a0003c0009	a0001c0001t0001 a0001c0002t0002 a0002c0010t0001 others(1): Show a0001c0001t0001 a0001c0002t0002 a0002c0010t0001 a0003c0009t0003	a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 others(19): Show a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0095 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0175 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0012 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0032 a0001c0002t0002g0038 a0001c0002t0002g0057 a0001c0002t0002g0067 a0001c0002t0002g0068 a0002c0010t0001g0130 a0003c0009t0003g0086	22	137	0.1606	26	c.907 others(43): Show c.907+6364_907+6365insCCTCTTCACACCTACAGCCAGCACAG	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	9/12		INFO_REALIGN_3_PRIME	chr6	TogoVar

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