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
SMCHD1_chr18_2650726_2810017	2709232	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG01069.hp2 others(5): Show HG00099.hp2 HG00140.hp2 HG01069.hp2 HG01261.hp2 HG01433.hp1 HG02559.hp2 HG03041.hp2 NA19081.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0012 a0001c0002 a0001c0004 a0001c0012	a0001c0002t0003 a0001c0002t0018 a0001c0004t0001 others(1): Show a0001c0002t0003 a0001c0002t0018 a0001c0004t0001 a0001c0012t0003	a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 others(5): Show a0001c0002t0003g0013 a0001c0002t0003g0014 a0001c0002t0003g0015 a0001c0002t0003g0017 a0001c0002t0018g0204 a0001c0004t0001g0189 a0001c0012t0003g0254 a0001c0012t0003g0272	8	340	0.0235	20	c.226 others(39): Show c.2260+1313_2260+1314insGTATATATATATATATATAT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	17/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2748378	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03486.hp2 NA19030.hp1 HG03225.hp2 HG03486.hp2 NA19030.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0009 a0001c0005t0007 a0001c0005t0009	a0001c0005t0007g0027 a0001c0005t0009g0240 a0001c0005t0009g0245 a0001c0005t0007g0027 a0001c0005t0009g0240 a0001c0005t0009g0245	3	340	0.0088	20	c.392 others(37): Show c.3927+736_3927+737insGTGTGTGTGTGTGTATGTGT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	30/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2748380	G G	GTGTGTGT others(13): Show GTGTGTGTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0276 a0002c0001t0001g0276	1	340	0.0029	20	c.392 others(37): Show c.3927+736_3927+737insGTGTGTGTGTGTGTGTATGT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	30/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2765996	G G	GTTTTCTT others(13): Show GTTTTCTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG03579.hp1 HG03704.hp2 others(1): Show HG02148.hp2 HG03579.hp1 HG03704.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0171 a0001c0002t0003g0188 a0001c0002t0003g0336 others(1): Show a0001c0002t0003g0171 a0001c0002t0003g0188 a0001c0002t0003g0336 a0001c0002t0003g0337	4	340	0.0118	20	c.471 others(39): Show c.4719+2221_4719+2222insTTTTTTTTTTCTTTTTTTTT	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	37/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCHD1_chr18_2650726_2810017	2793656	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp1 HG03225.hp1 others(2): Show HG02647.hp2 HG02922.hp1 HG03225.hp1 NA19010.hp2 NA19091.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0069 a0001c0004t0002g0074 a0001c0004t0002g0118 others(2): Show a0001c0004t0002g0069 a0001c0004t0002g0074 a0001c0004t0002g0118 a0001c0004t0002g0119 a0001c0004t0002g0120	5	340	0.0147	20	c.572 others(39): Show c.5720-2278_5720-2277insAAAAAAAAAAAAAAAAAAAA	SMCHD1	ENSG00000101596.17	transcript	ENST00000320876.11	protein_coding	45/47		INFO_REALIGN_3_PRIME	chr18	TogoVar
SMCO1_chr3_196501879_196520346	196518584	G G	GAGACAAA others(13): Show GAGACAAAGGACCCTGGCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0075 a0001c0007t0003g0075	1	398	0.0025	20	c.-33 others(31): Show c.-3376_-3375insTGTGCCAGGGTCCTTTGTCT	SMCO1	ENSG00000214097.5	transcript	ENST00000397537.3	protein_coding		3239		chr3	TogoVar
SMCO4_chr11_93473472_93548391	93514413	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0049 a0001c0002t0009g0049	1	412	0.0024	20	c.-15 others(41): Show c.-153-15066_-153-15065insGTGTATATATATATATATAT	SMCO4	ENSG00000166002.7	transcript	ENST00000298966.7	protein_coding	1/2			chr11	TogoVar
SMG1_chr16_18799860_18931408	18844570	T T	TCACACAC others(13): Show TCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0003 a0003c0006t0003	a0003c0006t0003g0192 a0003c0006t0003g0192	1	300	0.0033	20	c.621 others(37): Show c.6219+858_6219+859insTGTGTGTGTGTGTGTGTGTG	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding	39/62			chr16	TogoVar
SMG1_chr16_18799860_18931408	18927415	G G	GAAGGAAA others(13): Show GAAGGAAAGGAAAGGAAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp1 HG02818.hp2 HG03486.hp1 HG02717.hp1 HG02818.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0243 a0001c0002t0005g0244 a0001c0002t0005g0249 a0001c0002t0005g0243 a0001c0002t0005g0244 a0001c0002t0005g0249	3	300	0.0100	20	c.-13 others(31): Show c.-1375_-1374insTCCTTTCCTTTCCTTTCCTT	SMG1	ENSG00000157106.18	transcript	ENST00000446231.7	protein_coding		1008		chr16	TogoVar
SMG6_chr17_2054843_2308785	2066652	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01517.hp2 NA18942.hp2 HG01517.hp2 NA18942.hp2	a0002 a0003 a0002 a0003	a0002c0035 a0003c0003 a0002c0035 a0003c0003	a0002c0035t0001 a0003c0003t0001 a0002c0035t0001 a0003c0003t0001	a0002c0035t0001g0099 a0003c0003t0001g0171 a0002c0035t0001g0099 a0003c0003t0001g0171	2	278	0.0072	20	c.383 others(37): Show c.3836-993_3836-974dupGTGTGTGTGTGTGTGTGTGT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	16/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2114906	A A	AAAAATAA others(13): Show AAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0004 a0001c0021t0004	a0001c0021t0004g0129 a0001c0021t0004g0129	1	278	0.0036	20	c.335 others(41): Show c.3358-29025_3358-29006dupATTTTATTTTATTTTATTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG6_chr17_2054843_2308785	2130266	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02145.hp2 HG02717.hp1 others(7): Show HG01884.hp1 HG02145.hp2 HG02717.hp1 HG03139.hp1 HG03486.hp2 HG03579.hp2 NA18979.hp1 NA18999.hp1 NA19005.hp2 NA19064.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0004 a0002c0002 a0003c0003 a0004c0004	a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 others(2): Show a0002c0002t0001 a0002c0002t0002 a0003c0003t0002 a0004c0004t0001 a0004c0004t0022	a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0082 others(7): Show a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0082 a0002c0002t0002g0125 a0003c0003t0002g0177 a0004c0004t0001g0051 a0004c0004t0001g0052 a0004c0004t0001g0053 a0004c0004t0001g0092 a0004c0004t0022g0050	10	278	0.0360	20	c.335 others(41): Show c.3357+42391_3357+42392insTTTTTTTTTTTTTTTTTTTT	SMG6	ENSG00000070366.14	transcript	ENST00000263073.11	protein_coding	13/18			chr17	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(13): Show TATATATACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0034 a0001c0001t0006g0034	1	320	0.0031	20	c.67 others(31): Show c.6765_*6766insGTGTGTGTGTGTGTATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(13): Show TATATATATACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0069 a0001c0001t0006g0069	1	320	0.0031	20	c.67 others(31): Show c.6765_*6766insGTGTGTGTGTGTATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(13): Show TATATATATATATACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0071 a0001c0001t0006g0071	1	320	0.0031	20	c.67 others(31): Show c.6765_*6766insGTGTGTGTATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(13): Show TATATATATATATATATACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0098 a0001c0001t0028g0098	1	320	0.0031	20	c.67 others(31): Show c.6765_*6766insGTGTATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43724830	T T	TATATATA others(13): Show TATATATATATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0012 a0001c0001t0005g0012	1	320	0.0031	20	c.67 others(31): Show c.6765_*6766insGTATATATATATATATATAT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		3152		chr19	TogoVar
SMG9_chr19_43722983_43759962	43752902	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0022 a0002c0003t0022	a0002c0003t0022g0090 a0002c0003t0022g0090	1	320	0.0031	20	c.-7+ others(35): Show c.-7+1751_-7+1752insTTTTTTTTTTTTTTTTTTTT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding	1/13			chr19	TogoVar
SMG9_chr19_43722983_43759962	43757207	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0057 a0001c0001t0057	a0001c0001t0057g0196 a0001c0001t0057g0196	1	320	0.0031	20	c.-25 others(31): Show c.-2561_-2560insTTTTTTTTTTTTTTTTTTTT	SMG9	ENSG00000105771.14	transcript	ENST00000270066.11	protein_coding		2246		chr19	TogoVar
SMIM13_chr6_11088834_11143733	11090459	C C	CATATATA others(13): Show CATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0200 a0001c0001t0005g0200	1	400	0.0025	20	c.-38 others(31): Show c.-3855_-3854insATATATATATATATATATAT	SMIM13	ENSG00000224531.6	transcript	ENST00000416247.4	protein_coding		3374		chr6	TogoVar
SMIM14_chr4_39541336_39643865	39576660	G G	GTGTATAT others(13): Show GTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01978.hp1 HG02273.hp2 others(4): Show HG01123.hp1 HG01978.hp1 HG02273.hp2 HG03139.hp1 HG03239.hp1 HG03831.hp2 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0031 a0001c0001t0002 a0001c0001t0014 a0001c0001t0031	a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0064 others(4): Show a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0078 a0001c0001t0002g0127 a0001c0001t0014g0024 a0001c0001t0031g0098	7	344	0.0204	20	c.76- others(35): Show c.76-4198_76-4197insTATATATATATATATATACA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39576660	G G	GTGTGTAT others(13): Show GTGTGTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01257.hp1 HG02148.hp2 others(2): Show HG00597.hp2 HG01257.hp1 HG02148.hp2 HG02165.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0015 a0001c0001t0047	a0001c0001t0002g0246 a0001c0001t0009g0060 a0001c0001t0009g0242 others(2): Show a0001c0001t0002g0246 a0001c0001t0009g0060 a0001c0001t0009g0242 a0001c0001t0015g0050 a0001c0001t0047g0069	5	344	0.0145	20	c.76- others(35): Show c.76-4198_76-4197insTATATATATATATATACACA	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM14_chr4_39541336_39643865	39584481	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp1 HG01069.hp1 others(4): Show HG00323.hp1 HG00639.hp1 HG01069.hp1 HG01256.hp2 HG03017.hp1 NA18949.hp1 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 others(1): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0020 a0001c0001t0023	a0001c0001t0001g0137 a0001c0001t0004g0009 a0001c0001t0004g0100 others(4): Show a0001c0001t0001g0137 a0001c0001t0004g0009 a0001c0001t0004g0100 a0001c0001t0004g0126 a0001c0001t0004g0272 a0001c0001t0020g0341 a0001c0001t0023g0339	7	344	0.0204	20	c.76- others(37): Show c.76-12038_76-12019dupTTTTTTTTTTTTTTTTTTTT	SMIM14	ENSG00000163683.12	transcript	ENST00000295958.10	protein_coding	2/4			chr4	TogoVar
SMIM17_chr19_56638159_56662247	56647420	T T	TGAGAGAG others(13): Show TGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02622.hp2 HG02055.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0012 a0001c0001t0006 a0001c0001t0012	a0001c0001t0006g0198 a0001c0001t0012g0197 a0001c0001t0006g0198 a0001c0001t0012g0197	2	418	0.0048	20	c.170 others(35): Show c.170-126_170-107dupAGAGAGAGAGAGAGAGAGAG	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr19	TogoVar
SMIM17_chr19_56638159_56662247	56658673	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0183 a0001c0001t0002g0183	1	418	0.0024	20	c.34 others(31): Show c.3460_*3461insAAAAAAAAAAAAAAAAAAAA	SMIM17	ENSG00000268182.6	transcript	ENST00000598409.6	protein_coding		1427		chr19	TogoVar
SMIM2_chr13_44138150_44166257	44142132	C C	CCTCGGCT others(13): Show CCTCGGCTCGGCTCGGCTCGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02647.hp2 NA19060.hp1 HG02451.hp1 HG02647.hp2 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0099 a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0099	3	380	0.0079	20	c.17 others(31): Show c.1785_*1786insCCGAGCCGAGCCGAGCCGAG	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		1017		chr13	TogoVar
SMIM2_chr13_44138150_44166257	44163631	T T	TAGATAGA others(13): Show TAGATAGATAGATAGATAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG00544.hp1 others(100): Show HG00099.hp1 HG00423.hp1 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp1 HG01099.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp2 HG01884.hp2 HG01891.hp2 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02922.hp2 HG03041.hp2 HG03195.hp1 HG03209.hp1 HG03486.hp1 HG03579.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp2 HG06807.hp2 NA18612.hp2 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18947.hp2 NA18950.hp2 NA18953.hp2 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp2 NA18966.hp1 NA18969.hp2 NA18971.hp2 NA18972.hp2 NA18980.hp1 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18990.hp1 NA18999.hp1 NA19005.hp1 NA19007.hp2 NA19043.hp2 NA19058.hp1 NA19062.hp2 NA19074.hp2 NA19075.hp2 NA19077.hp1 NA19079.hp1 NA19079.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 others(45): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0019 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0134 a0001c0001t0002g0002 a0001c0001t0002g0034 a0001c0001t0003g0006 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0003g0041 a0001c0001t0003g0089 a0001c0001t0003g0094 a0001c0001t0003g0095	103	380	0.2711	20	c.-25 others(31): Show c.-2564_-2563insGTCTATCTATCTATCTATCT	SMIM2	ENSG00000139656.8	transcript	ENST00000400419.2	protein_coding		2375		chr13	TogoVar
SMIM31_chr4_164749131_164808795	164755534	A A	AGGAGGGG others(13): Show AGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG02080.hp1 others(7): Show HG01070.hp2 HG01071.hp1 HG02080.hp1 HG02486.hp1 HG02602.hp2 HG02723.hp2 HG03225.hp1 HG03579.hp2 NA18980.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0008 a0001c0001t0024	a0001c0001t0001g0243 a0001c0001t0002g0238 a0001c0001t0002g0260 others(7): Show a0001c0001t0001g0243 a0001c0001t0002g0238 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0003g0160 a0001c0001t0005g0267 a0001c0001t0005g0268 a0001c0001t0008g0236 a0001c0001t0008g0242 a0001c0001t0024g0237	10	364	0.0275	20	c.-26 others(37): Show c.-26+1127_-26+1128insGGGAGGGGAGGGGAGGGGAG	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM31_chr4_164749131_164808795	164755539	A A	AGGAGGGG others(13): Show AGGAGGGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02132.hp2 HG03239.hp1 others(4): Show HG01358.hp2 HG02132.hp2 HG03239.hp1 HG04199.hp2 NA18950.hp2 NA18972.hp2 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0030	a0001c0001t0001g0313 a0001c0001t0002g0098 a0001c0001t0002g0144 others(4): Show a0001c0001t0001g0313 a0001c0001t0002g0098 a0001c0001t0002g0144 a0001c0001t0003g0314 a0001c0001t0004g0347 a0001c0001t0017g0362 a0001c0001t0030g0097	7	364	0.0192	20	c.-26 others(37): Show c.-26+1155_-26+1174dupGAGGGGAGGGGAGGGGAGGG	SMIM31	ENSG00000248771.5	transcript	ENST00000507311.1	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
SMIM35_chr11_117998634_118091963	118035881	G G	GTGGGTGT others(13): Show GTGGGTGTTTGTTTGTTTGTT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01975.hp1 HG01993.hp1 others(10): Show HG00323.hp2 HG01975.hp1 HG01993.hp1 HG02083.hp2 HG02155.hp2 HG02523.hp2 NA18906.hp1 NA18948.hp1 NA18959.hp2 NA18960.hp2 NA18965.hp2 NA19012.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 others(10): Show a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0162 a0001c0001t0004g0304 a0001c0001t0006g0015 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0005g0321 a0002c0002t0005g0322 a0002c0002t0005g0323 a0002c0002t0005g0324 a0002c0002t0007g0010	13	408	0.0319	20	c.8-2 others(35): Show c.8-20073_8-20072insAACAAACAAACAAACACCCA	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118035881	G G	GTGTTTGT others(13): Show GTGTTTGTTTGTTTGTTTGTT	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	408	0.0025	20	c.8-2 others(35): Show c.8-20092_8-20073dupAACAAACAAACAAACAAACA	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM35_chr11_117998634_118091963	118045330	G G	GCACACAC others(13): Show GCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01361.hp1 HG01433.hp1 others(6): Show HG00280.hp2 HG01361.hp1 HG01433.hp1 HG02040.hp2 HG02523.hp2 NA18948.hp1 NA19004.hp2 NA19012.hp2 NA19060.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0005 others(1): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0011	a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0160 others(6): Show a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0001g0163 a0002c0002t0002g0013 a0002c0002t0002g0020 a0002c0002t0005g0324 a0002c0002t0011g0402	9	408	0.0221	20	c.8-2 others(35): Show c.8-29541_8-29522dupTGTGTGTGTGTGTGTGTGTG	SMIM35	ENSG00000255274.10	transcript	ENST00000689828.1	protein_coding	1/4			chr11	TogoVar
SMIM36_chr17_55444856_55516452	55508431	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02630.hp1 NA18906.hp2 HG02055.hp2 HG02630.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0004g0148 a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0004g0148	3	340	0.0088	20	c.17 others(39): Show c.174+2428_*174+2447dupATATATATATATATATATAT	SMIM36	ENSG00000261873.3	transcript	ENST00000636752.2	protein_coding	1/4			chr17	TogoVar
SMIM45_chr22_41947150_41963939	41958483	G G	GGAGAGAG others(13): Show GGAGAGAGAGAGAGAGAGAGA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0075 a0001c0001t0024g0075	1	382	0.0026	20	c.59 others(29): Show c.597_*616dupAGAGAGAGAGAGAGAGAGAG	SMIM45	ENSG00000205704.9	transcript	ENST00000381348.5	protein_coding	2/2	617	INFO_REALIGN_3_PRIME	chr22	TogoVar
SMKR1_chr7_129497531_129517918	129498482	A A	AAAAAGAA others(13): Show AAAAAGAAAAGAAAAGAAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 NA18961.hp1 NA19010.hp1 others(1): Show HG00733.hp1 NA18961.hp1 NA19010.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0001 a0001c0001t0001g0012	4	422	0.0095	20	c.-43 others(31): Show c.-4343_-4342insAAAAGAAAAGAAAAGAAAAG	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		4048		chr7	TogoVar
SMKR1_chr7_129497531_129517918	129499488	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp2 HG02004.hp2 HG02293.hp2 HG01192.hp2 HG02004.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0004 a0001c0001t0002g0004	3	422	0.0071	20	c.-33 others(31): Show c.-3337_-3336insTTTTTTTTTTTTTTTTTTTT	SMKR1	ENSG00000240204.3	transcript	ENST00000462322.3	protein_coding		3042		chr7	TogoVar
SMOC1_chr14_69874416_70037366	69947087	G G	GCCTTCCT others(13): Show GCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02698.hp1 HG02451.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0020 a0001c0001t0005g0221 a0001c0001t0001g0020 a0001c0001t0005g0221	2	270	0.0074	20	c.100 others(37): Show c.100-5028_100-5009dupTTCCTTCCTTCCTTCCTTCC	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC2_chr6_168436184_168672992	168664384	C C	CTTTTTTT others(13): Show CTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	180	0.0056	20	c.132 others(37): Show c.1323+286_1323+305dupTTTTTTTTTTTTTTTTTTTT	SMOC2	ENSG00000112562.20	transcript	ENST00000356284.7	protein_coding	12/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMO_chr7_129183633_129218545	129193779	A A	AATATATA others(13): Show AATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	410	0.0024	20	c.331 others(37): Show c.331+4298_331+4299insTATATATATATATATATATA	SMO	ENSG00000128602.11	transcript	ENST00000249373.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
SMPD2_chr6_109435724_109448919	109448097	G G	GACACACA others(13): Show GACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02135.hp1 HG02602.hp2 others(9): Show HG02109.hp1 HG02135.hp1 HG02602.hp2 HG02647.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG03453.hp1 NA18906.hp1 NA18961.hp2 NA18985.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0001c0004 a0002c0001 a0001c0002 a0001c0004 a0002c0001	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(2): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0003 a0002c0001t0001	a0001c0002t0001g0003 a0001c0002t0002g0002 a0001c0004t0001g0003 others(3): Show a0001c0002t0001g0003 a0001c0002t0002g0002 a0001c0004t0001g0003 a0001c0004t0001g0004 a0001c0004t0003g0003 a0002c0001t0001g0001	12	438	0.0274	20	c.41 others(31): Show c.4192_*4193insACACACACACACACACACAC	SMPD2	ENSG00000135587.9	transcript	ENST00000258052.8	protein_coding		4179		chr6	TogoVar
SMPDL3A_chr6_122784258_122814720	122808593	T T	TCCTCCCT others(13): Show TCCTCCCTCCCTCCCTTCCTC	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0060 a0001c0001t0003g0060	1	442	0.0023	20	c.104 others(37): Show c.1045-483_1045-482insTCCTCCCTCCCTCCCTCCCT	SMPDL3A	ENSG00000172594.13	transcript	ENST00000368440.5	protein_coding	7/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
SMPDL3B_chr1_27930000_27964152	27933774	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0193 a0001c0001t0011g0193	1	432	0.0023	20	c.-14 others(31): Show c.-1410_-1409insAAAAAAAAAAAAAAAAAAAA	SMPDL3B	ENSG00000130768.15	transcript	ENST00000373894.8	protein_coding		1225		chr1	TogoVar
SMPDL3B_chr1_27930000_27964152	27933785	A A	AAAAAAAA others(13): Show AAAAAAAACAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00558.hp1 others(95): Show HG00280.hp2 HG00323.hp2 HG00558.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01109.hp1 HG01167.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG02080.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02735.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp1 HG04228.hp2 NA18522.hp1 NA18945.hp1 NA18945.hp2 NA18954.hp2 NA18961.hp2 NA18969.hp1 NA18977.hp2 NA18980.hp1 NA18988.hp2 NA19012.hp2 NA19030.hp1 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19068.hp1 NA19070.hp1 NA19076.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0006 a0007 a0010	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0002c0003 a0005c0008 a0006c0007 a0007c0016 a0010c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(11): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0002t0002 a0001c0002t0003 a0001c0005t0002 a0001c0010t0002 a0002c0003t0002 a0002c0003t0003 a0005c0008t0002 a0006c0007t0003 a0007c0016t0002 a0010c0017t0005	a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0028 others(56): Show a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0055 a0001c0001t0002g0057 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0067 a0001c0001t0002g0069 a0001c0001t0002g0075 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0085 a0001c0001t0002g0088 a0001c0001t0002g0091 a0001c0001t0002g0228 a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0034 a0001c0001t0003g0059 a0001c0001t0003g0065 a0001c0001t0003g0072 a0001c0001t0003g0077 a0001c0001t0003g0081 a0001c0001t0003g0084 a0001c0001t0003g0090 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0096 a0001c0001t0005g0089 a0001c0001t0007g0092 a0001c0002t0002g0019 a0001c0002t0002g0056 a0001c0002t0002g0074 a0001c0002t0003g0050 a0001c0002t0003g0051 a0001c0002t0003g0068 a0001c0002t0003g0087 a0001c0002t0003g0222 a0001c0002t0003g0227 a0001c0005t0002g0018 a0001c0005t0002g0064 a0001c0005t0002g0071 a0001c0010t0002g0030 a0002c0003t0002g0020 a0002c0003t0002g0073 a0002c0003t0002g0097 a0002c0003t0003g0031 a0005c0008t0002g0076 a0006c0007t0003g0036 a0007c0016t0002g0019 a0010c0017t0005g0058	98	432	0.2269	20	c.-13 others(31): Show c.-1399_-1398insAAAAAAACAAAAAAAAAAAC	SMPDL3B	ENSG00000130768.15	transcript	ENST00000373894.8	protein_coding		1214		chr1	TogoVar
SMR3B_chr4_70378131_70395244	70390982	C C	CATATATA others(13): Show CATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0002	1	462	0.0022	20	c.11 others(31): Show c.1134_*1135insATATATATATATATATATAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		739		chr4	TogoVar
SMR3B_chr4_70378131_70395244	70391020	C C	CACACACA others(13): Show CACACACACATATATACACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	462	0.0022	20	c.11 others(31): Show c.1172_*1173insACACACACATATATACACAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		777		chr4	TogoVar
SMR3B_chr4_70378131_70395244	70391058	C C	CATATATA others(13): Show CATATATATATACACATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00323.hp1 others(129): Show HG00140.hp1 HG00280.hp1 HG00323.hp1 HG00408.hp2 HG00423.hp1 HG00597.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00738.hp1 HG01109.hp1 HG01255.hp1 HG01256.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01517.hp1 HG01934.hp1 HG01943.hp1 HG01975.hp2 HG01993.hp2 HG02015.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp2 HG02155.hp2 HG02602.hp1 HG02602.hp2 HG02698.hp1 HG02735.hp1 HG02738.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18956.hp1 NA18959.hp1 NA18960.hp1 NA18965.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18974.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp2 NA18982.hp1 NA18983.hp1 NA18983.hp2 NA18989.hp1 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp1 NA18998.hp1 NA18999.hp2 NA19001.hp1 NA19002.hp2 NA19004.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19059.hp1 NA19059.hp2 NA19060.hp1 NA19060.hp2 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp2 NA20752.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0019 others(18): Show a0001c0001t0002g0002 a0001c0001t0002g0005 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0027 a0001c0001t0002g0039 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0003g0007 a0001c0001t0006g0002 a0001c0001t0006g0019	132	462	0.2857	20	c.12 others(31): Show c.1210_*1211insATATATATATACACATACAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		815		chr4	TogoVar
SMS_chrX_21935709_21999837	21936104	G G	GTATTTAT others(13): Show GTATTTATTTATTTATTTATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG02280.hp1 NA18951.hp1 others(2): Show HG00099.hp1 HG02280.hp1 NA18951.hp1 NA19001.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0151 a0001c0001t0002g0194 a0001c0001t0002g0197 others(2): Show a0001c0001t0002g0151 a0001c0001t0002g0194 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0207	5	298	0.0168	20	c.-47 others(31): Show c.-4721_-4720insTATTTATTTATTTATTTATT	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding		4604		chrX	TogoVar
SMS_chrX_21935709_21999837	21944539	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01169.hp2 HG01515.hp1 others(2): Show HG00735.hp1 HG01169.hp2 HG01515.hp1 HG01517.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0072 a0001c0001t0001g0105 a0001c0001t0004g0067 others(2): Show a0001c0001t0001g0072 a0001c0001t0001g0105 a0001c0001t0004g0067 a0001c0001t0004g0103 a0001c0001t0004g0144	5	298	0.0168	20	c.49+ others(35): Show c.49+3672_49+3673insAAAAAAAAAAAAAGAAAAAA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	1/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMS_chrX_21935709_21999837	21988662	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 NA18972.hp2 HG00639.hp1 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0241 a0001c0001t0001g0006 a0001c0001t0001g0241	2	298	0.0067	20	c.945 others(37): Show c.945+3450_945+3469dupAAAAAAAAAAAAAAAAAAAA	SMS	ENSG00000102172.16	transcript	ENST00000404933.7	protein_coding	9/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
SMU1_chr9_33036765_33081674	33039536	C C	CATATATA others(13): Show CATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01257.hp1 HG02818.hp2 HG01257.hp1 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0081 a0001c0001t0002 a0001c0001t0081	a0001c0001t0002g0023 a0001c0001t0081g0101 a0001c0001t0002g0023 a0001c0001t0081g0101	2	418	0.0048	20	c.77 others(31): Show c.7756_*7757insATATATATATATATATATAT	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding		2228		chr9	TogoVar

Search by Variant

Search

Search Results