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
SMCHD1_chr18_2650726_2810017	2658915	TACATATA others(3): Show TACATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01167.hp1 HG02257.hp1 others(10): Show HG01081.hp1 HG01167.hp1 HG02257.hp1 HG02572.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03130.hp2 HG03942.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0002c0001 a0001c0007 a0002c0001	a0001c0007t0004 a0002c0001t0008 a0002c0001t0021 others(2): Show a0001c0007t0004 a0002c0001t0008 a0002c0001t0021 a0002c0001t0025 a0002c0001t0029	a0001c0007t0004g0238 a0001c0007t0004g0239 a0002c0001t0008g0004 others(10): Show a0001c0007t0004g0238 a0001c0007t0004g0239 a0002c0001t0008g0004 a0002c0001t0008g0006 a0002c0001t0008g0007 a0002c0001t0008g0008 a0002c0001t0008g0009 a0002c0001t0008g0010 a0002c0001t0008g0011 a0002c0001t0021g0247 a0002c0001t0021g0339 a0002c0001t0025g0005 a0002c0001t0029g0338	13	340	0.0382	-10	c.186 others(27): Show c.186+2674_186+2683delCACATATATA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	1/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2662178	ATAAAATA others(3): Show ATAAAATAAAT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0046 a0001c0005t0046	a0001c0005t0046g0159 a0001c0005t0046g0159	1	340	0.0029	-10	c.187 others(27): Show c.187-3978_187-3969delTAAAATAAAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	1/47			chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2678833	TTTTTTGT others(3): Show TTTTTTGTTTG	T T	intron_variant intron_variant	MODIFIER	NA19067.hp1 NA19067.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0005 a0003c0003t0005	a0003c0003t0005g0099 a0003c0003t0005g0099	1	340	0.0029	-10	c.638 others(27): Show c.638+4692_638+4701delTTGTTTGTTT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	5/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2708867	CATATATA others(3): Show CATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00735.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0140 a0003c0003t0004g0140	1	340	0.0029	-10	c.226 others(27): Show c.2260+979_2260+988delTATATATATA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2780238	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0016 a0001c0005t0016	a0001c0005t0016g0032 a0001c0005t0016g0032	1	340	0.0029	-10	c.554 others(29): Show c.5547+2018_5547+2027delAAAAAAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	44/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO1_chr3_196501879_196520346	196502054	GAAAAAAA others(3): Show GAAAAAAAAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01106.hp2 HG01981.hp1 others(1): Show HG01070.hp2 HG01106.hp2 HG01981.hp1 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0107 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0001g0107 a0001c0001t0002g0040 a0001c0001t0002g0041	4	398	0.0101	-10	c.58 others(21): Show c.5823_*5832delTTTTTTTTTT	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding		4824		chr3	TogoVar
SMCO1_chr3_196501879_196520346	196515988	GATATATA others(3): Show GATATATATAT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0070 a0001c0001t0001g0070	1	398	0.0025	-10	c.-78 others(19): Show c.-789_-780delATATATATAT	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding		643		chr3	TogoVar
SMCO2_chr12_27441736_27507185	27477209	GGTTTTTT others(3): Show GGTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00733.hp2 HG01168.hp1 others(69): Show HG00558.hp2 HG00733.hp2 HG01168.hp1 HG01169.hp1 HG01981.hp1 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02132.hp1 HG02155.hp1 HG02165.hp2 HG02602.hp2 HG02683.hp2 HG02735.hp2 HG02886.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03492.hp1 HG03654.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp2 NA18940.hp1 NA18941.hp2 NA18942.hp2 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18959.hp1 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp2 NA18979.hp2 NA18981.hp1 NA18985.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18992.hp2 NA18995.hp2 NA19005.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp2 NA19066.hp2 NA19072.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19084.hp1 NA19086.hp2 NA19090.hp1 NA19091.hp1 NA20129.hp1 NA20905.hp2	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0005 a0002c0021 a0003c0002 others(3): Show a0002c0005 a0002c0021 a0003c0002 a0004c0017 a0004c0022 a0005c0010	a0002c0005t0002 a0002c0021t0001 a0003c0002t0001 others(5): Show a0002c0005t0002 a0002c0021t0001 a0003c0002t0001 a0003c0002t0002 a0003c0002t0004 a0004c0017t0005 a0004c0022t0006 a0005c0010t0006	a0002c0005t0002g0120 a0002c0021t0001g0019 a0003c0002t0001g0249 others(60): Show a0002c0005t0002g0120 a0002c0021t0001g0019 a0003c0002t0001g0249 a0003c0002t0002g0001 a0003c0002t0002g0003 a0003c0002t0002g0008 a0003c0002t0002g0009 a0003c0002t0002g0010 a0003c0002t0002g0053 a0003c0002t0002g0056 a0003c0002t0002g0057 a0003c0002t0002g0059 a0003c0002t0002g0060 a0003c0002t0002g0065 a0003c0002t0002g0066 a0003c0002t0002g0067 a0003c0002t0002g0068 a0003c0002t0002g0078 a0003c0002t0002g0088 a0003c0002t0002g0089 a0003c0002t0002g0090 a0003c0002t0002g0091 a0003c0002t0002g0092 a0003c0002t0002g0093 a0003c0002t0002g0094 a0003c0002t0002g0095 a0003c0002t0002g0096 a0003c0002t0002g0097 a0003c0002t0002g0098 a0003c0002t0002g0099 a0003c0002t0002g0101 a0003c0002t0002g0102 a0003c0002t0002g0103 a0003c0002t0002g0104 a0003c0002t0002g0105 a0003c0002t0002g0106 a0003c0002t0002g0107 a0003c0002t0002g0108 a0003c0002t0002g0111 a0003c0002t0002g0112 a0003c0002t0002g0114 a0003c0002t0002g0115 a0003c0002t0002g0116 a0003c0002t0002g0117 a0003c0002t0002g0118 a0003c0002t0002g0124 a0003c0002t0002g0126 a0003c0002t0002g0127 a0003c0002t0002g0128 a0003c0002t0002g0129 a0003c0002t0002g0136 a0003c0002t0002g0141 a0003c0002t0004g0195 a0003c0002t0004g0202 a0003c0002t0004g0203 a0004c0017t0005g0020 a0004c0017t0005g0024 a0004c0022t0006g0030 a0005c0010t0006g0238 a0005c0010t0006g0332 a0005c0010t0006g0333 a0005c0010t0006g0334 a0005c0010t0006g0335	72	360	0.2000	-10	c.512 others(27): Show c.512+1479_512+1488delGTTTTTTTTT	SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	5/8			chr12	TogoVar
SMCO2_chr12_27441736_27507185	27477210	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0113 a0003c0002t0002g0113	1	360	0.0028	-10	c.512 others(27): Show c.512+1495_512+1504delTTTTTTTTTT	SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMCO2_chr12_27441736_27507185	27477617	CTTCATTC others(3): Show CTTCATTCTTT	C C	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	360	0.0028	-10	c.512 others(27): Show c.512+1899_512+1908delCATTCTTTTT	SMCO2	ENSG00000165935.10	transcript	ENST00000535986.2	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr12	TogoVar
SMCO4_chr11_93473472_93548391	93478713	GCACACAC others(3): Show GCACACACACA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00438.hp2 HG00558.hp1 others(93): Show HG00099.hp2 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00673.hp2 HG01123.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp2 HG01346.hp1 HG01433.hp2 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02071.hp1 HG02083.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp2 HG02165.hp2 HG02486.hp2 HG02572.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02976.hp1 HG03017.hp1 HG03041.hp2 HG03139.hp2 HG03209.hp2 HG03486.hp1 HG03540.hp1 HG03654.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp1 HG04199.hp2 HG04228.hp2 NA18747.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18960.hp2 NA18961.hp2 NA18965.hp2 NA18969.hp2 NA18978.hp1 NA18979.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18986.hp1 NA18988.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA19001.hp2 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp2 NA19054.hp1 NA19056.hp1 NA19056.hp2 NA19070.hp2 NA19074.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0012 a0001c0001t0014 a0001c0001t0002 a0001c0001t0012 a0001c0001t0014	a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0023 others(85): Show a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0035 a0001c0001t0002g0046 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0075 a0001c0001t0002g0089 a0001c0001t0002g0090 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0146 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0169 a0001c0001t0002g0183 a0001c0001t0002g0196 a0001c0001t0002g0204 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0287 a0001c0001t0002g0295 a0001c0001t0002g0303 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0322 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0012g0370 a0001c0001t0012g0371 a0001c0001t0012g0373 a0001c0001t0012g0377 a0001c0001t0014g0031 a0001c0001t0014g0372	96	412	0.2330	-10	c.28 others(19): Show c.287_*296delTGTGTGTGTG	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	3/3	287		chr11	TogoVar
SMCO4_chr11_93473472_93548391	93514374	CTATATAT others(3): Show CTATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00597.hp1 others(22): Show HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00639.hp2 HG01070.hp2 HG01123.hp1 HG01943.hp2 HG02071.hp1 HG02922.hp2 HG03041.hp1 HG03453.hp2 HG03471.hp1 HG03834.hp1 NA18747.hp2 NA18942.hp2 NA18943.hp2 NA18960.hp2 NA18961.hp2 NA18971.hp1 NA18977.hp1 NA18980.hp1 NA19001.hp2 NA19004.hp1 NA19007.hp1 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0007 a0001c0003t0005	a0001c0001t0001g0012 a0001c0001t0001g0077 a0001c0001t0001g0129 others(18): Show a0001c0001t0001g0012 a0001c0001t0001g0077 a0001c0001t0001g0129 a0001c0001t0002g0001 a0001c0001t0002g0023 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0131 a0001c0001t0002g0183 a0001c0001t0003g0256 a0001c0001t0003g0257 a0001c0001t0003g0294 a0001c0001t0003g0331 a0001c0002t0007g0083 a0001c0002t0007g0084 a0001c0002t0007g0320 a0001c0003t0005g0148 a0001c0003t0005g0354	25	412	0.0607	-10	c.-15 others(31): Show c.-153-15036_-153-15027delTATATATATA	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMCO4_chr11_93473472_93548391	93532849	GGGAACCT others(3): Show GGGAACCTAAT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00558.hp1 others(93): Show HG00099.hp2 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00673.hp1 HG00673.hp2 HG01074.hp2 HG01081.hp2 HG01169.hp1 HG01175.hp2 HG01243.hp1 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01884.hp1 HG01952.hp1 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02486.hp2 HG02622.hp1 HG02717.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03704.hp1 HG03710.hp1 HG03834.hp2 HG04115.hp1 HG04228.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18951.hp2 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18962.hp2 NA18964.hp2 NA18965.hp2 NA18969.hp2 NA18971.hp2 NA18977.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp1 NA18984.hp2 NA18986.hp1 NA18988.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19010.hp1 NA19011.hp2 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19079.hp2 NA19084.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0002t0004 a0001c0002t0007 a0001c0002t0009 a0001c0002t0013 a0001c0003t0005	a0001c0001t0001g0117 a0001c0001t0001g0221 a0001c0001t0001g0227 others(89): Show a0001c0001t0001g0117 a0001c0001t0001g0221 a0001c0001t0001g0227 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0268 a0001c0001t0001g0277 a0001c0001t0001g0350 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0035 a0001c0001t0002g0046 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0089 a0001c0001t0002g0101 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0133 a0001c0001t0002g0156 a0001c0001t0002g0196 a0001c0001t0002g0204 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0230 a0001c0001t0002g0231 a0001c0001t0002g0255 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0287 a0001c0001t0002g0295 a0001c0001t0002g0303 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0322 a0001c0001t0002g0328 a0001c0001t0002g0330 a0001c0001t0002g0366 a0001c0001t0002g0367 a0001c0001t0002g0368 a0001c0001t0003g0015 a0001c0001t0003g0033 a0001c0001t0003g0138 a0001c0001t0003g0142 a0001c0001t0003g0200 a0001c0001t0003g0222 a0001c0001t0003g0274 a0001c0001t0003g0317 a0001c0001t0003g0323 a0001c0001t0003g0326 a0001c0001t0006g0032 a0001c0001t0012g0370 a0001c0001t0012g0371 a0001c0001t0014g0031 a0001c0001t0014g0372 a0001c0001t0018g0135 a0001c0002t0004g0123 a0001c0002t0004g0313 a0001c0002t0004g0315 a0001c0002t0004g0346 a0001c0002t0004g0347 a0001c0002t0004g0348 a0001c0002t0007g0083 a0001c0002t0007g0084 a0001c0002t0007g0320 a0001c0002t0009g0049 a0001c0002t0013g0314 a0001c0003t0005g0285	96	412	0.2330	-10	c.-15 others(31): Show c.-154+10417_-154+10426delATTAGGTTCC	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMCO4_chr11_93473472_93548391	93534215	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0206 a0001c0001t0003g0206	1	412	0.0024	-10	c.-15 others(29): Show c.-154+9051_-154+9060delGTGTGTGTGT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMCP_chr1_152873322_152890047	152888415	GAGCCTTC others(3): Show GAGCCTTCAGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-10	c.36 others(21): Show c.3643_*3652delAGCCTTCAGC	SMCP	ENSG00000163206.6	transcript	ENST00000368765.4	protein_coding		3369		chr1	TogoVar
SMDT1_chr22_42074700_42089284	42083942	ATGAGACC others(3): Show ATGAGACCCCC	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	393	0.0025	-10	c.82 others(19): Show c.828_*837delTGAGACCCCC	SMDT1	ENSG00000183172.9	transcript	ENST00000331479.4	protein_coding	3/3	1881		chr22	TogoVar
SMG1_chr16_18799860_18931408	18844474	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02451.hp2 HG02723.hp1 others(1): Show HG01175.hp2 HG02451.hp2 HG02723.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0002t0002 a0001c0003t0027 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0027 a0001c0009t0008	a0001c0001t0001g0096 a0001c0002t0002g0227 a0001c0003t0027g0218 others(1): Show a0001c0001t0001g0096 a0001c0002t0002g0227 a0001c0003t0027g0218 a0001c0009t0008g0222	4	300	0.0133	-10	c.621 others(27): Show c.6219+945_6219+954delGTGTGTGTGT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18849069	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01975.hp1 NA20129.hp2 HG01975.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0025 a0001c0003 a0001c0025	a0001c0003t0009 a0001c0025t0003 a0001c0003t0009 a0001c0025t0003	a0001c0003t0009g0299 a0001c0025t0003g0193 a0001c0003t0009g0299 a0001c0025t0003g0193	2	300	0.0067	-10	c.562 others(27): Show c.5623+138_5623+147delTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	36/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18887762	TAAAAAAA others(3): Show TAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0008 a0001c0009t0008	a0001c0009t0008g0222 a0001c0009t0008g0222	1	300	0.0033	-10	c.822 others(27): Show c.822+1600_822+1609delTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	6/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18907845	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03540.hp2 HG03098.hp1 HG03540.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0003 a0001c0016t0003	a0001c0016t0003g0197 a0001c0016t0003g0204 a0001c0016t0003g0197 a0001c0016t0003g0204	2	300	0.0067	-10	c.93- others(27): Show c.93-10899_93-10890delTTTTTTTTTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	1/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18919655	TATACACA others(3): Show TATACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG03209.hp1 HG02965.hp2 HG03209.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0216 a0001c0003t0013g0217 a0001c0003t0013g0216 a0001c0003t0013g0217	2	300	0.0067	-10	c.92+ others(25): Show c.92+6285_92+6294delGTGTGTGTAT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	1/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18919657	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02145.hp2 HG02280.hp1 others(2): Show HG02109.hp1 HG02145.hp2 HG02280.hp1 NA18960.hp1 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0014 a0001c0004t0007	a0001c0001t0001g0045 a0001c0001t0008g0220 a0001c0001t0008g0221 others(2): Show a0001c0001t0001g0045 a0001c0001t0008g0220 a0001c0001t0008g0221 a0001c0001t0014g0001 a0001c0004t0007g0009	5	300	0.0167	-10	c.92+ others(25): Show c.92+6283_92+6292delGTGTGTGTGT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	1/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18927415	GAAGGAAA others(3): Show GAAGGAAAGGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02922.hp2 HG03209.hp2 others(1): Show HG01891.hp1 HG02922.hp2 HG03209.hp2 HG03225.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0010 a0001c0003t0001 a0001c0003t0010	a0001c0003t0001g0133 a0001c0003t0010g0109 a0001c0003t0010g0110 others(1): Show a0001c0003t0001g0133 a0001c0003t0010g0109 a0001c0003t0010g0110 a0001c0003t0010g0174	4	300	0.0133	-10	c.-13 others(21): Show c.-1384_-1375delTCCTTTCCTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding		1008		chr16	TogoVar
SMG5_chr1_156244224_156287825	156256310	CTTTTTTT others(3): Show CTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02895.hp2 HG02897.hp2 HG01891.hp2 HG02895.hp2 HG02897.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0006 a0001c0003t0002 a0001c0003t0006	a0001c0003t0002g0234 a0001c0003t0006g0236 a0001c0003t0006g0237 a0001c0003t0002g0234 a0001c0003t0006g0236 a0001c0003t0006g0237	3	368	0.0082	-10	c.244 others(29): Show c.2442+2685_2442+2694delAAAAAAAAAA	SMG5	ENSG00000198952.8	transcript	ENST00000361813.5	protein_coding	16/21			chr1	TogoVar
SMG6_chr17_2054843_2308785	2066652	TACACACA others(3): Show TACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01257.hp1 HG02015.hp2 others(10): Show HG00621.hp1 HG01257.hp1 HG02015.hp2 HG02040.hp2 HG02071.hp2 HG02083.hp2 HG02698.hp2 HG03239.hp2 HG03491.hp1 HG03492.hp1 NA18975.hp1 NA19011.hp1 NA20752.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0006c0005 a0006c0032 a0002c0002 a0006c0005 a0006c0032	a0002c0002t0001 a0006c0005t0004 a0006c0005t0006 others(4): Show a0002c0002t0001 a0006c0005t0004 a0006c0005t0006 a0006c0005t0007 a0006c0005t0011 a0006c0005t0013 a0006c0032t0007	a0002c0002t0001g0014 a0006c0005t0004g0119 a0006c0005t0004g0121 others(10): Show a0002c0002t0001g0014 a0006c0005t0004g0119 a0006c0005t0004g0121 a0006c0005t0006g0116 a0006c0005t0007g0113 a0006c0005t0007g0114 a0006c0005t0007g0115 a0006c0005t0007g0117 a0006c0005t0011g0122 a0006c0005t0011g0124 a0006c0005t0013g0118 a0006c0005t0013g0120 a0006c0032t0007g0123	13	278	0.0468	-10	c.383 others(27): Show c.3836-983_3836-974delGTGTGTGTGT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	16/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2075992	GACCAGGC others(3): Show GACCAGGCCTC	G G	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02622.hp2 HG01070.hp1 HG02622.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0126 a0002c0002t0001g0127 a0002c0002t0001g0126 a0002c0002t0001g0127	2	278	0.0072	-10	c.368 others(29): Show c.3681+5808_3681+5817delGAGGCCTGGT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	15/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2080073	TCAAAACA others(3): Show TCAAAACAAAA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00558.hp2 others(125): Show HG00099.hp2 HG00140.hp2 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02055.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02602.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04199.hp2 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18943.hp1 NA18948.hp1 NA18951.hp1 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18977.hp2 NA18979.hp1 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18995.hp2 NA19005.hp2 NA19011.hp2 NA19062.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp2 NA19070.hp2 NA19079.hp2 NA19081.hp1 NA19240.hp1 NA20300.hp2 NA20752.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0010 a0015 a0017 a0020 a0022	a0001c0001 a0001c0020 a0002c0002 others(13): Show a0001c0001 a0001c0020 a0002c0002 a0002c0034 a0003c0003 a0004c0004 a0005c0006 a0005c0013 a0006c0005 a0007c0007 a0008c0009 a0010c0011 a0015c0027 a0017c0017 a0020c0031 a0022c0018	a0001c0001t0001 a0001c0020t0004 a0002c0002t0001 others(28): Show a0001c0001t0001 a0001c0020t0004 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0010 a0002c0002t0023 a0002c0034t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0005 a0003c0003t0015 a0003c0003t0017 a0003c0003t0019 a0004c0004t0001 a0004c0004t0004 a0004c0004t0012 a0004c0004t0022 a0005c0006t0004 a0005c0013t0001 a0005c0013t0002 a0006c0005t0001 a0007c0007t0001 a0007c0007t0002 a0007c0007t0014 a0008c0009t0001 a0010c0011t0010 a0015c0027t0005 a0017c0017t0001 a0020c0031t0001 a0022c0018t0001	a0001c0001t0001g0211 a0001c0001t0001g0273 a0001c0020t0004g0129 others(125): Show a0001c0001t0001g0211 a0001c0001t0001g0273 a0001c0020t0004g0129 a0002c0002t0001g0012 a0002c0002t0001g0018 a0002c0002t0001g0042 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0049 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0065 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0081 a0002c0002t0001g0086 a0002c0002t0001g0087 a0002c0002t0001g0090 a0002c0002t0001g0094 a0002c0002t0001g0108 a0002c0002t0001g0130 a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0061 a0002c0002t0002g0067 a0002c0002t0002g0071 a0002c0002t0002g0075 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0096 a0002c0002t0002g0109 a0002c0002t0005g0107 a0002c0002t0010g0128 a0002c0002t0023g0063 a0002c0034t0001g0099 a0003c0003t0001g0001 a0003c0003t0001g0136 a0003c0003t0001g0138 a0003c0003t0001g0140 a0003c0003t0001g0141 a0003c0003t0001g0144 a0003c0003t0001g0145 a0003c0003t0001g0146 a0003c0003t0001g0147 a0003c0003t0001g0148 a0003c0003t0001g0150 a0003c0003t0001g0152 a0003c0003t0001g0155 a0003c0003t0001g0156 a0003c0003t0001g0157 a0003c0003t0001g0158 a0003c0003t0001g0159 a0003c0003t0001g0161 a0003c0003t0001g0162 a0003c0003t0001g0164 a0003c0003t0001g0165 a0003c0003t0001g0167 a0003c0003t0001g0168 a0003c0003t0001g0171 a0003c0003t0001g0175 a0003c0003t0001g0183 a0003c0003t0001g0218 a0003c0003t0001g0219 a0003c0003t0001g0226 a0003c0003t0002g0143 a0003c0003t0002g0149 a0003c0003t0002g0153 a0003c0003t0002g0160 a0003c0003t0002g0163 a0003c0003t0002g0170 a0003c0003t0002g0173 a0003c0003t0002g0177 a0003c0003t0002g0179 a0003c0003t0002g0181 a0003c0003t0002g0217 a0003c0003t0005g0154 a0003c0003t0005g0166 a0003c0003t0005g0169 a0003c0003t0015g0178 a0003c0003t0017g0182 a0003c0003t0019g0172 a0004c0004t0001g0011 a0004c0004t0001g0032 a0004c0004t0001g0051 a0004c0004t0001g0052 a0004c0004t0001g0053 a0004c0004t0001g0057 a0004c0004t0001g0092 a0004c0004t0004g0091 a0004c0004t0004g0093 a0004c0004t0012g0058 a0004c0004t0022g0050 a0005c0006t0004g0021 a0005c0006t0004g0022 a0005c0006t0004g0027 a0005c0006t0004g0100 a0005c0006t0004g0101 a0005c0006t0004g0102 a0005c0006t0004g0103 a0005c0006t0004g0104 a0005c0006t0004g0105 a0005c0006t0004g0106 a0005c0013t0001g0007 a0005c0013t0002g0010 a0006c0005t0001g0111 a0007c0007t0001g0013 a0007c0007t0001g0019 a0007c0007t0001g0023 a0007c0007t0001g0024 a0007c0007t0001g0025 a0007c0007t0001g0026 a0007c0007t0002g0028 a0007c0007t0014g0020 a0008c0009t0001g0184 a0008c0009t0001g0185 a0008c0009t0001g0186 a0010c0011t0010g0276 a0010c0011t0010g0277 a0010c0011t0010g0278 a0015c0027t0005g0221 a0017c0017t0001g0225 a0020c0031t0001g0097 a0022c0018t0001g0137	128	278	0.4604	-10	c.368 others(29): Show c.3681+1727_3681+1736delTTTTGTTTTG	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	15/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2096756	CACAAGAC others(3): Show CACAAGACAAG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02055.hp1 HG02809.hp2 others(4): Show HG01884.hp2 HG02055.hp1 HG02809.hp2 HG03130.hp1 HG03195.hp1 HG06807.hp1 NA19240.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0008 a0004c0004t0021 a0004c0004t0002 a0004c0004t0008 a0004c0004t0021	a0004c0004t0002g0085 a0004c0004t0008g0015 a0004c0004t0008g0016 others(4): Show a0004c0004t0002g0085 a0004c0004t0008g0015 a0004c0004t0008g0016 a0004c0004t0008g0054 a0004c0004t0008g0055 a0004c0004t0008g0056 a0004c0004t0021g0216	7	278	0.0252	-10	c.335 others(31): Show c.3358-10865_3358-10856delCTTGTCTTGT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2114950	ATAAAAAA others(3): Show ATAAAAAAATG	A A	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02965.hp2 NA21309.hp1 HG02647.hp1 HG02965.hp2 NA21309.hp1	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0010 a0010c0011t0010	a0010c0011t0010g0276 a0010c0011t0010g0277 a0010c0011t0010g0278 a0010c0011t0010g0276 a0010c0011t0010g0277 a0010c0011t0010g0278	3	278	0.0108	-10	c.335 others(31): Show c.3358-29059_3358-29050delCATTTTTTTA	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2121587	CTGTGTGT others(3): Show CTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00621.hp2 HG00639.hp1 others(22): Show HG00558.hp1 HG00621.hp2 HG00639.hp1 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02129.hp1 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02735.hp1 HG02735.hp2 HG03017.hp2 HG03688.hp1 HG04115.hp2 HG04199.hp1 NA18943.hp2 NA18951.hp2 NA18960.hp2 NA18975.hp2 NA18977.hp1 NA18982.hp2 NA19062.hp1 NA19084.hp1 NA20905.hp1	a0001 a0003 a0011 a0001 a0003 a0011	a0001c0001 a0001c0023 a0003c0003 others(1): Show a0001c0001 a0001c0023 a0003c0003 a0011c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0018 a0001c0023t0002 a0003c0003t0001 a0011c0010t0001	a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 others(22): Show a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0250 a0001c0001t0001g0269 a0001c0001t0001g0272 a0001c0001t0002g0233 a0001c0001t0002g0237 a0001c0001t0002g0246 a0001c0001t0002g0263 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0206 a0001c0001t0005g0244 a0001c0001t0009g0204 a0001c0001t0009g0212 a0001c0001t0018g0238 a0001c0023t0002g0274 a0003c0003t0001g0150 a0003c0003t0001g0156 a0003c0003t0001g0218 a0011c0010t0001g0247	25	278	0.0899	-10	c.335 others(31): Show c.3358-35696_3358-35687delCACACACACA	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2149349	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0006 a0006	a0006c0032 a0006c0032	a0006c0032t0007 a0006c0032t0007	a0006c0032t0007g0123 a0006c0032t0007g0123	1	278	0.0036	-10	c.335 others(31): Show c.3357+23299_3357+23308delTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2183745	GACACACA others(3): Show GACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01243.hp1 HG02257.hp1 others(5): Show HG01109.hp2 HG01243.hp1 HG02257.hp1 HG02486.hp1 HG02523.hp2 HG02922.hp1 HG03209.hp2 NA18942.hp1	a0001 a0005 a0009 others(1): Show a0001 a0005 a0009 a0021	a0001c0001 a0001c0023 a0005c0006 others(2): Show a0001c0001 a0001c0023 a0005c0006 a0009c0008 a0021c0026	a0001c0001t0001 a0001c0023t0002 a0005c0006t0004 others(3): Show a0001c0001t0001 a0001c0023t0002 a0005c0006t0004 a0009c0008t0003 a0009c0008t0009 a0021c0026t0016	a0001c0001t0001g0240 a0001c0001t0001g0253 a0001c0023t0002g0274 others(5): Show a0001c0001t0001g0240 a0001c0001t0001g0253 a0001c0023t0002g0274 a0005c0006t0004g0102 a0005c0006t0004g0103 a0009c0008t0003g0222 a0009c0008t0009g0224 a0021c0026t0016g0110	8	278	0.0288	-10	c.315 others(29): Show c.3155+2908_3155+2917delGTGTGTGTGT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	12/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2230212	AAAAAAAA others(3): Show AAAAAAAAAAG	A A	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0007 a0006c0005t0007	a0006c0005t0007g0114 a0006c0005t0007g0114	1	278	0.0036	-10	c.286 others(29): Show c.2869+6270_2869+6279delCTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	10/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2236701	TCACACAC others(3): Show TCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00642.hp1 HG00738.hp2 others(18): Show HG00621.hp1 HG00642.hp1 HG00738.hp2 HG01081.hp1 HG01891.hp1 HG02015.hp2 HG02040.hp2 HG02083.hp2 HG02486.hp2 HG02698.hp2 HG02895.hp1 HG02922.hp2 HG03239.hp2 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03654.hp2 NA18975.hp1 NA19043.hp2 NA20752.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0006 a0012 a0019 a0023	a0001c0001 a0002c0002 a0003c0003 others(7): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0006c0005 a0006c0025 a0006c0032 a0012c0021 a0019c0015 a0023c0022	a0001c0001t0003 a0002c0002t0002 a0003c0003t0019 others(12): Show a0001c0001t0003 a0002c0002t0002 a0003c0003t0019 a0004c0004t0001 a0004c0004t0012 a0006c0005t0004 a0006c0005t0006 a0006c0005t0007 a0006c0005t0011 a0006c0005t0013 a0006c0025t0011 a0006c0032t0007 a0012c0021t0012 a0019c0015t0004 a0023c0022t0025	a0001c0001t0003g0268 a0002c0002t0002g0061 a0003c0003t0019g0172 others(18): Show a0001c0001t0003g0268 a0002c0002t0002g0061 a0003c0003t0019g0172 a0004c0004t0001g0011 a0004c0004t0001g0051 a0004c0004t0001g0052 a0004c0004t0012g0058 a0006c0005t0004g0121 a0006c0005t0006g0116 a0006c0005t0007g0113 a0006c0005t0007g0114 a0006c0005t0007g0115 a0006c0005t0007g0117 a0006c0005t0011g0122 a0006c0005t0011g0124 a0006c0005t0013g0118 a0006c0025t0011g0112 a0006c0032t0007g0123 a0012c0021t0012g0220 a0019c0015t0004g0134 a0023c0022t0025g0208	21	278	0.0755	-10	c.272 others(25): Show c.2724-74_2724-65delTGTGTGTGTG	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	9/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2258026	AAAAAAAA others(3): Show AAAAAAAAAAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0005 a0002c0002t0006g0005	1	278	0.0036	-10	c.266 others(31): Show c.2662-13317_2662-13308delATTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	8/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2277157	ATTTATTT others(3): Show ATTTATTTATT	A A	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0033 a0002c0002t0002g0033	1	278	0.0036	-10	c.266 others(29): Show c.2661+5480_2661+5489delAATAAATAAA	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	8/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2277162	TTTATTTT others(3): Show TTTATTTTTTA	T T	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0074 a0002c0002t0005g0074	1	278	0.0036	-10	c.266 others(29): Show c.2661+5475_2661+5484delTAAAAAATAA	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	8/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2286307	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0016 a0016	a0016c0014 a0016c0014	a0016c0014t0012 a0016c0014t0012	a0016c0014t0012g0135 a0016c0014t0012g0135	1	278	0.0036	-10	c.233 others(29): Show c.2338-2582_2338-2573delTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	6/18			chr17	TogoVar
SMG7_chr1_183467499_183559191	183542925	ATATGTGT others(3): Show ATATGTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0005 a0006c0007t0005	a0006c0007t0005g0171 a0006c0007t0005g0171	1	360	0.0028	-10	c.184 others(27): Show c.1842+425_1842+434delATGTGTGTGT	SMG7	ENSG00000116698.22	transcript	ENST00000688051.1	protein_coding	14/22		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMG8_chr17_59205035_59220230	59215368	GGTTTTTT others(3): Show GGTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	394	0.0025	-10	c.36 others(19): Show c.367_*376delGTTTTTTTTT	SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding		139		chr17	TogoVar
SMG8_chr17_59205035_59220230	59215369	GTTTTTTT others(3): Show GTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG03098.hp1 NA18978.hp2 others(2): Show HG00738.hp2 HG03098.hp1 NA18978.hp2 NA18979.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0002 a0001c0002t0001g0001 a0001c0001t0001g0002 a0001c0002t0001g0001	5	394	0.0127	-10	c.36 others(19): Show c.368_*377delTTTTTTTTTT	SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding		140		chr17	TogoVar
SMG8_chr17_59205035_59220230	59219059	ATTTTTTT others(3): Show ATTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0001 a0001c0002t0001g0001	1	394	0.0025	-10	c.40 others(21): Show c.4058_*4067delTTTTTTTTTT	SMG8	ENSG00000167447.13	transcript	ENST00000300917.10	protein_coding		3830		chr17	TogoVar
SMG9_chr19_43722983_43759962	43724824	TATATATA others(3): Show TATATATACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0155 a0001c0001t0001g0155	1	320	0.0031	-10	c.67 others(21): Show c.6762_*6771delGTGTATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3158		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724826	TATATACA others(3): Show TATATACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0006 a0001c0001t0004g0006	1	320	0.0031	-10	c.67 others(21): Show c.6760_*6769delGTGTGTATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3156		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724828	TATACACA others(3): Show TATACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02717.hp1 HG03453.hp1 HG02717.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0190 a0001c0001t0012g0191 a0001c0001t0012g0190 a0001c0001t0012g0191	2	320	0.0063	-10	c.67 others(21): Show c.6758_*6767delGTGTGTGTAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3154		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	TACACACA others(3): Show TACACACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG03486.hp1 HG01109.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0022 a0002c0003t0022	a0002c0003t0022g0090 a0002c0003t0022g0091 a0002c0003t0022g0090 a0002c0003t0022g0091	2	320	0.0063	-10	c.67 others(21): Show c.6756_*6765delGTGTGTGTGT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMIM10L1_chr12_11166194_11181016	11168386	AAGAAAGA others(3): Show AAGAAAGAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0000 a0001c0002t0007g0000	1	397	0.0025	-10	c.-29 others(21): Show c.-2970_-2961delAGAAAGAAAG	SMIM10L1	ENSG00000256537.5	transcript	ENST00000622602.2	protein_coding		2807		chr12	TogoVar
SMIM10_chrX_134985991_134997473	134986712	TCCTTCCT others(3): Show TCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 HG02165.hp1 HG03927.hp1 others(5): Show HG02129.hp1 HG02165.hp1 HG03927.hp1 NA18953.hp1 NA18982.hp1 NA19003.hp1 NA19004.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0002g0000 a0001c0001t0005g0000	8	322	0.0248	-10	c.-43 others(21): Show c.-4383_-4374delCCTTCCTTCC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4278		chrX	TogoVar
SMIM10_chrX_134985991_134997473	134986716	TCCTTCCT others(3): Show TCCTTCCTTCC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG01109.hp1 HG01884.hp2 others(5): Show HG00735.hp1 HG01109.hp1 HG01884.hp2 HG02155.hp2 HG02818.hp1 HG03453.hp1 HG03579.hp1 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0007 a0001c0001t0002 a0001c0001t0006 a0001c0001t0007	a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0007g0000 a0001c0001t0002g0000 a0001c0001t0006g0000 a0001c0001t0007g0000	8	322	0.0248	-10	c.-43 others(21): Show c.-4379_-4370delCCTTCCTTCC	SMIM10	ENSG00000184785.6	transcript	ENST00000330288.6	protein_coding		4274		chrX	TogoVar
SMIM12_chr1_34845362_34864749	34849983	CAAAAAAA others(3): Show CAAAAAAAAAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG01071.hp2 HG01167.hp1 others(34): Show HG00099.hp2 HG01071.hp2 HG01167.hp1 HG01167.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp2 HG01515.hp2 HG01943.hp2 HG02055.hp2 HG02258.hp1 HG02486.hp1 HG02486.hp2 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp1 HG03139.hp2 HG03239.hp1 HG03490.hp1 HG03492.hp1 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18978.hp1 NA19064.hp1 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0020 others(23): Show a0001c0001t0004 a0001c0001t0017 a0001c0001t0020 a0001c0001t0022 a0001c0001t0026 a0001c0001t0034 a0001c0001t0036 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0059 a0001c0001t0061 a0001c0001t0063 a0001c0001t0064 a0001c0001t0065 a0001c0001t0067 a0001c0001t0075 a0001c0001t0086 a0001c0001t0092 a0001c0001t0108 a0001c0001t0110 a0001c0001t0124 a0001c0001t0129 a0001c0001t0139 a0001c0001t0140	a0001c0001t0004g0004 a0001c0001t0017g0016 a0001c0001t0017g0161 others(26): Show a0001c0001t0004g0004 a0001c0001t0017g0016 a0001c0001t0017g0161 a0001c0001t0020g0033 a0001c0001t0020g0141 a0001c0001t0022g0037 a0001c0001t0022g0162 a0001c0001t0026g0019 a0001c0001t0034g0028 a0001c0001t0036g0031 a0001c0001t0040g0035 a0001c0001t0042g0049 a0001c0001t0043g0040 a0001c0001t0044g0041 a0001c0001t0059g0089 a0001c0001t0061g0075 a0001c0001t0063g0077 a0001c0001t0064g0078 a0001c0001t0065g0079 a0001c0001t0067g0064 a0001c0001t0075g0091 a0001c0001t0086g0095 a0001c0001t0092g0123 a0001c0001t0108g0108 a0001c0001t0110g0110 a0001c0001t0124g0157 a0001c0001t0129g0146 a0001c0001t0139g0115 a0001c0001t0140g0131	37	382	0.0969	-10	c.57 others(21): Show c.5706_*5715delTTTTTTTTTT	SMIM12	ENSG00000163866.9	transcript	ENST00000521580.3	protein_coding		378		chr1	TogoVar

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