Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SLC39A11_chr17_72640949_73097688	72720403	T T	TCCGAGTA others(39): Show TCCGAGTAGCCAGGCACACTCAGAGACCCTGCTCCTGGACCTGGGCC	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG00639.hp1 others(23): Show HG00544.hp1 HG00558.hp1 HG00639.hp1 HG01074.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02895.hp1 HG02970.hp1 HG03098.hp2 HG03195.hp1 HG03516.hp1 NA18522.hp2 NA18983.hp1 NA18999.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0005 a0001c0006 others(6): Show a0001c0001 a0001c0005 a0001c0006 a0001c0010 a0001c0021 a0002c0002 a0002c0004 a0003c0007 a0008c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0005t0001 a0001c0006t0007 a0001c0010t0003 a0001c0021t0003 a0002c0002t0002 a0002c0002t0007 a0002c0002t0011 a0002c0004t0002 a0002c0004t0011 a0003c0007t0002 a0008c0024t0007	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 others(23): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0049 a0001c0001t0001g0085 a0001c0001t0002g0031 a0001c0001t0004g0134 a0001c0001t0005g0088 a0001c0001t0005g0120 a0001c0001t0006g0033 a0001c0001t0008g0163 a0001c0005t0001g0059 a0001c0005t0001g0111 a0001c0006t0007g0102 a0001c0010t0003g0065 a0001c0021t0003g0089 a0002c0002t0002g0019 a0002c0002t0002g0030 a0002c0002t0007g0158 a0002c0002t0011g0027 a0002c0004t0002g0137 a0002c0004t0011g0026 a0003c0007t0002g0129 a0008c0024t0007g0093	26	180	0.1444	46	c.671 others(65): Show c.671+16201_671+16246dupGGCCCAGGTCCAGGAGCAGGGTCTCT GAGTGTGCCTGGCTACTCGG	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	7/9			chr17	TogoVar
SLC39A11_chr17_72640949_73097688	73004231	G G	GGAAAGAA others(39): Show GGAAAGAAAGAAAGGAAAGAAAGAAAGAAAGAAAGAAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	NA19065.hp2 NA19065.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0165 a0001c0011t0003g0165	1	180	0.0056	46	c.306 others(65): Show c.306+27324_306+27325insTTTCTTTCTTTTCTTTCTTTCTTTCT TTCTTTCCTTTCTTTCTTTC	SLC39A11	ENSG00000133195.12	transcript	ENST00000255559.8	protein_coding	4/9			chr17	TogoVar
SLC45A4_chr8_141202174_141313288	141203142	A A	AAGAGAGG others(39): Show AAGAGAGGGAGAGGGAGACCGTGGAGAGAGGGAGAGGGAGACCGTGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02109.hp2 HG03486.hp1 others(1): Show HG01884.hp2 HG02109.hp2 HG03486.hp1 HG06807.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0026 a0001c0006t0009 a0001c0006t0026	a0001c0006t0009g0005 a0001c0006t0009g0007 a0001c0006t0009g0008 others(1): Show a0001c0006t0009g0005 a0001c0006t0009g0007 a0001c0006t0009g0008 a0001c0006t0026g0006	4	188	0.0213	46	c.84 others(57): Show c.8429_*8430insCCACGGTCTCCCTCTCCCTCTCTCCACGGTCTCC CTCTCCCTCTCT	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		4031		chr8	TogoVar
SLC45A4_chr8_141202174_141313288	141203242	A A	AGGGAGAC others(39): Show AGGGAGACCGTGGAGAGAGGGAGAGGGAGAGGGAGAGGGAGACCGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0080 a0001c0003t0001g0080	1	188	0.0053	46	c.83 others(57): Show c.8329_*8330insCACGGTCTCCCTCTCCCTCTCCCTCTCCCTCTCT CCACGGTCTCCC	SLC45A4	ENSG00000022567.10	transcript	ENST00000517878.6	protein_coding		3931		chr8	TogoVar
SLC5A11_chr16_24840963_24916626	24849593	A A	AAAAAAAA others(39): Show AAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	378	0.0027	46	c.-25 others(63): Show c.-25+3156_-25+3157insAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATATA	SLC5A11	ENSG00000158865.13	transcript	ENST00000424767.7	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr16	TogoVar
SLC5A12_chr11_26662020_26727060	26669187	T T	TTTTCTTT others(39): Show TTTTCTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0135 a0001c0014t0135	a0001c0014t0135g0327 a0001c0014t0135g0327	1	412	0.0024	46	c.19 others(57): Show c.1914_*1915insGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAAAGAAA	SLC5A12	ENSG00000148942.15	transcript	ENST00000396005.8	protein_coding	15/15	1914		chr11	TogoVar
SLC5A4_chr22_32213464_32260347	32213586	A A	ATATACAT others(39): Show ATATACATATATATCTATATATGTATACATATATGTATACATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0146	1	302	0.0033	46	c.49 others(57): Show c.4927_*4928insCATATATGTATACATATATGTATACATATATAGA TATATATGTATA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding		4877		chr22	TogoVar
SLC5A4_chr22_32213464_32260347	32213700	G G	GTATATAT others(39): Show GTATATATCTATATATGTATACATATATATCTATACATATATATGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00423.hp2 others(31): Show HG00099.hp2 HG00280.hp2 HG00423.hp2 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01109.hp1 HG01243.hp2 HG01255.hp2 HG02109.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02615.hp1 HG02717.hp1 HG02976.hp1 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03453.hp1 HG03491.hp1 HG03540.hp1 HG03579.hp2 HG03669.hp2 HG03942.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp1 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp1	a0001 a0003 a0005 others(1): Show a0001 a0003 a0005 a0006	a0001c0001 a0003c0007 a0005c0010 others(1): Show a0001c0001 a0003c0007 a0005c0010 a0006c0008	a0001c0001t0001 a0003c0007t0001 a0005c0010t0001 others(1): Show a0001c0001t0001 a0003c0007t0001 a0005c0010t0001 a0006c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0043 others(25): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0080 a0001c0001t0001g0113 a0001c0001t0001g0152 a0001c0001t0001g0187 a0001c0001t0001g0221 a0001c0001t0001g0246 a0001c0001t0001g0247 a0003c0007t0001g0038 a0005c0010t0001g0265 a0006c0008t0001g0138	34	302	0.1126	46	c.48 others(57): Show c.4813_*4814insTCCATATATATGTATAGATATATATGTATACATA TATAGATATATA	SLC5A4	ENSG00000100191.6	transcript	ENST00000266086.6	protein_coding		4763		chr22	TogoVar
SLC6A15_chr12_84854491_84917799	84900886	G G	GTGTATAT others(39): Show GTGTATATATGTGTATAGATATGTATATATATACATACATATATACA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01952.hp2 HG01123.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0104 a0001c0001t0002g0077 a0001c0001t0001g0104 a0001c0001t0002g0077	2	218	0.0092	46	c.-18 others(65): Show c.-188-8624_-188-8579dupTGTATATATGTATGTATATATATACA TATCTATACACATATATACA	SLC6A15	ENSG00000072041.18	transcript	ENST00000266682.10	protein_coding	1/11			chr12	TogoVar
SLC6A1_chr3_10987748_11044247	11029991	A A	AAGAAAGA others(39): Show AAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0323 a0001c0001t0014g0323	1	438	0.0023	46	c.132 others(63): Show c.1323+640_1323+641insGAAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGAAAGAAAGA	SLC6A1	ENSG00000157103.13	transcript	ENST00000287766.10	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
SLC7A5_chr16_87825023_87874507	87863986	A A	AATATATA others(39): Show AATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0133 a0001c0001t0002g0133	1	390	0.0026	46	c.538 others(63): Show c.538+4898_538+4899insATATATATATATATATATATATATATAT ATATATATATATATATAT	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding	1/9			chr16	TogoVar
SLC7A5_chr16_87825023_87874507	87873028	T T	TTCTTTCT others(39): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTCTTTTCTTTCTGACAAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0016 a0001c0002t0016	a0001c0002t0016g0032 a0001c0002t0016g0032	1	390	0.0026	46	c.-36 others(57): Show c.-3607_-3606insTCTTGTCAGAAAGAAAAGAAGAAAGAAAGAAAGA AAGAAAGAAAGA	SLC7A5	ENSG00000103257.9	transcript	ENST00000261622.5	protein_coding		3522		chr16	TogoVar
SLC8A1_chr2_40092270_40457090	40200173	G G	GAGATATA others(39): Show GAGATATATATAAATATATATATATAAATATATATATAAATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01109.hp2 HG01243.hp1 others(15): Show HG01070.hp2 HG01109.hp2 HG01243.hp1 HG01517.hp1 HG01934.hp2 HG01975.hp2 HG02451.hp2 HG02683.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG03239.hp1 HG03492.hp1 HG04115.hp2 HG06807.hp2 NA18994.hp2 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0006 a0001c0001t0017 a0001c0001t0022 others(13): Show a0001c0001t0006 a0001c0001t0017 a0001c0001t0022 a0001c0001t0024 a0001c0001t0038 a0001c0001t0041 a0001c0001t0045 a0001c0001t0062 a0001c0001t0096 a0001c0001t0134 a0001c0001t0135 a0001c0001t0152 a0001c0001t0157 a0001c0001t0166 a0001c0001t0167 a0001c0004t0179	a0001c0001t0006g0149 a0001c0001t0017g0027 a0001c0001t0022g0176 others(15): Show a0001c0001t0006g0149 a0001c0001t0017g0027 a0001c0001t0022g0176 a0001c0001t0022g0177 a0001c0001t0024g0044 a0001c0001t0024g0111 a0001c0001t0038g0098 a0001c0001t0041g0233 a0001c0001t0045g0013 a0001c0001t0062g0115 a0001c0001t0096g0021 a0001c0001t0134g0089 a0001c0001t0135g0080 a0001c0001t0152g0204 a0001c0001t0157g0200 a0001c0001t0166g0173 a0001c0001t0167g0175 a0001c0004t0179g0012	18	236	0.0763	46	c.180 others(67): Show c.1809-21681_1809-21680insATATATATTTATATATATATTTAT ATATATATATTTATATATATCT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40200173	G G	GAGATATA others(39): Show GAGATATATATAAATATATATATATAAATATATATATATAAATATAT	intron_variant intron_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0141 a0001c0001t0094g0141	1	236	0.0042	46	c.180 others(67): Show c.1809-21681_1809-21680insATATATTTATATATATATATTTAT ATATATATATTTATATATATCT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40254370	C C	CAAAATGC others(39): Show CAAAATGCTCTTAAGTTGTAAATCATGCTTTTTTGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02615.hp1 HG02965.hp2 others(4): Show HG02145.hp1 HG02615.hp1 HG02965.hp2 HG03225.hp2 HG03471.hp2 NA19030.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0004 a0001c0001t0015 a0001c0001t0109 others(1): Show a0001c0001t0004 a0001c0001t0015 a0001c0001t0109 a0004c0006t0073	a0001c0001t0004g0056 a0001c0001t0004g0153 a0001c0001t0004g0157 others(4): Show a0001c0001t0004g0056 a0001c0001t0004g0153 a0001c0001t0004g0157 a0001c0001t0015g0074 a0001c0001t0015g0158 a0001c0001t0109g0041 a0004c0006t0073g0156	7	236	0.0297	46	c.180 others(67): Show c.1809-75923_1809-75878dupAAAAAAAAAAAACAAAAAAGCATG ATTTACAACTTAAGAGCATTTT	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC8A1_chr2_40092270_40457090	40302457	G G	GTGTGTGT others(39): Show GTGTGTGTGTGTATACACACATATATATGATACATATATATCATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0170 a0001c0001t0170	a0001c0001t0170g0063 a0001c0001t0170g0063	1	236	0.0042	46	c.180 others(69): Show c.1809-123965_1809-123964insTATATGATATATATGTATCATA TATATGTGTGTATACACACACACA	SLC8A1	ENSG00000183023.19	transcript	ENST00000332839.9	protein_coding	2/10			chr2	TogoVar
SLC9A3_chr5_465456_529449	467399	G G	GGGCGCCC others(39): Show GGGCGCCCTCCTGGTCCCCTCCTGTCTGACATCCCCTCAGCCTGGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 NA20129.hp1 HG02895.hp1 NA20129.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0013 a0004c0012t0013	a0004c0012t0013g0054 a0004c0012t0013g0132 a0004c0012t0013g0054 a0004c0012t0013g0132	2	218	0.0092	46	c.59 others(57): Show c.5979_*5980insATCCAGGCTGAGGGGATGTCAGACAGGAGGGGAC CAGGAGGGCGCC	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding		3056		chr5	TogoVar
SLC9A3_chr5_465456_529449	507755	C C	CCACCCCA others(39): Show CCACCCCACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCCT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01099.hp1 HG01099.hp2 others(49): Show HG00558.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01167.hp2 HG01169.hp1 HG01243.hp2 HG01257.hp1 HG01993.hp1 HG02004.hp2 HG02040.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18747.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp1 NA18951.hp2 NA18954.hp2 NA18957.hp2 NA18973.hp1 NA18979.hp1 NA18983.hp2 NA18986.hp2 NA19000.hp2 NA19002.hp1 NA19007.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19057.hp1 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19085.hp1 NA19088.hp2 NA20129.hp2	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0009	a0001c0001 a0001c0007 a0001c0008 others(8): Show a0001c0001 a0001c0007 a0001c0008 a0002c0002 a0002c0004 a0002c0005 a0002c0006 a0002c0010 a0002c0011 a0005c0013 a0009c0022	a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 others(19): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0011 a0001c0001t0012 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0007t0001 a0001c0007t0005 a0001c0007t0012 a0001c0008t0005 a0002c0002t0003 a0002c0002t0020 a0002c0002t0029 a0002c0004t0006 a0002c0005t0006 a0002c0006t0006 a0002c0006t0026 a0002c0010t0028 a0002c0011t0003 a0005c0013t0003 a0009c0022t0005	a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0052 others(48): Show a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0052 a0001c0001t0001g0116 a0001c0001t0005g0166 a0001c0001t0005g0180 a0001c0001t0005g0190 a0001c0001t0011g0154 a0001c0001t0012g0182 a0001c0001t0030g0169 a0001c0001t0031g0198 a0001c0001t0033g0188 a0001c0007t0001g0043 a0001c0007t0001g0045 a0001c0007t0005g0187 a0001c0007t0012g0176 a0001c0008t0005g0208 a0001c0008t0005g0216 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0168 a0002c0002t0003g0172 a0002c0002t0003g0174 a0002c0002t0003g0175 a0002c0002t0003g0186 a0002c0002t0003g0191 a0002c0002t0003g0192 a0002c0002t0003g0193 a0002c0002t0003g0194 a0002c0002t0003g0196 a0002c0002t0003g0197 a0002c0002t0003g0199 a0002c0002t0003g0200 a0002c0002t0003g0202 a0002c0002t0003g0206 a0002c0002t0020g0115 a0002c0002t0029g0179 a0002c0004t0006g0173 a0002c0004t0006g0209 a0002c0005t0006g0213 a0002c0005t0006g0214 a0002c0005t0006g0215 a0002c0006t0006g0001 a0002c0006t0006g0177 a0002c0006t0006g0178 a0002c0006t0026g0047 a0002c0010t0028g0189 a0002c0011t0003g0195 a0005c0013t0003g0167 a0005c0013t0003g0207 a0009c0022t0005g0210	52	218	0.2385	46	c.212 others(65): Show c.212-15685_212-15684insAGGATTCGGGCGTCTGTGGGGTGGGG ATTCGGGCGTCTGTGGGGTG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507938	T T	TCCACCCC others(39): Show TCCACCCCACAGACGCCCGAATCCTCACCCCACAGACGCCCGAATCC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0013 a0004c0012t0013	a0004c0012t0013g0132 a0004c0012t0013g0132	1	218	0.0046	46	c.212 others(65): Show c.212-15868_212-15867insGGATTCGGGCGTCTGTGGGGTGAGGA TTCGGGCGTCTGTGGGGTGG	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A3_chr5_465456_529449	507961	C C	CTCACCCC others(39): Show CTCACCCCACAGACGCCCGAATCCCCACCCCACAGACGCCCGAATCT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0061 a0001c0001t0014g0061	1	218	0.0046	46	c.212 others(65): Show c.212-15891_212-15890insAGATTCGGGCGTCTGTGGGGTGGGGA TTCGGGCGTCTGTGGGGTGA	SLC9A3	ENSG00000066230.12	transcript	ENST00000264938.8	protein_coding	1/16			chr5	TogoVar
SLC9A8_chr20_49807828_49897242	49884233	C C	CGACACAC others(39): Show CGACACACACACACACGACACACACACACACGACACACACACACACG	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0130 a0001c0001t0004g0130	1	360	0.0028	46	c.149 others(63): Show c.1491+167_1491+168insGACACACACACACACGACACACACACAC ACGACACACACACACACG	SLC9A8	ENSG00000197818.12	transcript	ENST00000361573.3	protein_coding	14/15			chr20	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(39): Show GTATGTGTGTGTATATATATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02630.hp2 HG02647.hp1	a0004 a0013 a0004 a0013	a0004c0006 a0013c0019 a0004c0006 a0013c0019	a0004c0006t0004 a0013c0019t0004 a0004c0006t0004 a0013c0019t0004	a0004c0006t0004g0101 a0013c0019t0004g0089 a0004c0006t0004g0101 a0013c0019t0004g0089	2	284	0.0070	46	c.21 others(57): Show c.2187_*2188insTATGTGTGTGTATATATATATATATATATATATA TATATATATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(39): Show GTATGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0014 a0014	a0014c0020 a0014c0020	a0014c0020t0010 a0014c0020t0010	a0014c0020t0010g0107 a0014c0020t0010g0107	1	284	0.0035	46	c.21 others(57): Show c.2187_*2188insTATGTGTGTGTGTGTGTGTATATATATATATATA TATATATATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO1B3_chr12_20805705_20921911	20918434	G G	GTATGTGT others(39): Show GTATGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0060 a0002c0002t0002g0060	1	284	0.0035	46	c.21 others(57): Show c.2187_*2188insTATGTGTGTGTGTGTGTGTGTATATATATATATA TATATATATATA	SLCO1B3	ENSG00000111700.13	transcript	ENST00000381545.8	protein_coding		1524		chr12	TogoVar
SLCO3A1_chr15_91848708_92170903	92047150	A A	ATATATAT others(39): Show ATATATATAAATATATATATAATATATATATATATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0154 a0001c0001t0002g0154	1	190	0.0053	46	c.647 others(65): Show c.647-47731_647-47730insTATATATAAATATATATATAATATAT ATATATATAAATATATATAT	SLCO3A1	ENSG00000176463.14	transcript	ENST00000318445.11	protein_coding	2/9			chr15	TogoVar
SLIT2_chr4_20246905_20625561	20472440	A A	ATATATCT others(39): Show ATATATCTATATAGATATATATCTATATCTATATATAGATATATATC	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA19082.hp1 NA18983.hp2 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0009 a0001c0002t0007 a0001c0002t0009	a0001c0002t0007g0177 a0001c0002t0009g0148 a0001c0002t0007g0177 a0001c0002t0009g0148	2	230	0.0087	46	c.467 others(63): Show c.467+4636_467+4637insATCTATATCTATATATAGATATATATCT ATATCTATATAGATATAT	SLIT2	ENSG00000145147.20	transcript	ENST00000504154.6	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr4	TogoVar
SLURP2_chr8_142759338_142774828	142761086	G G	GTAATTCA others(39): Show GTAATTCAGTGGTTTCTCACGCACCAAATCCACCCGTTTACAGTGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	446	0.0022	46	c.35 others(57): Show c.3518_*3519insGCCACTGTAAACGGGTGGATTTGGTGCGTGAGAA ACCACTGAATTA	SLURP2	ENSG00000283992.2	transcript	ENST00000317543.12	protein_coding		3251		chr8	TogoVar
SLX1B_chr16_29449533_29463219	29451070	T T	TAATAATA others(39): Show TAATAATATAGTATAATATATAATATATATTATAATATATATTATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	174	0.0058	46	c.-36 others(57): Show c.-3673_-3672insAATAATATAGTATAATATATAATATATATTATAA TATATATTATAA	SLX1B	ENSG00000181625.18	transcript	ENST00000330181.10	protein_coding		3462		chr16	TogoVar
SMARCAL1_chr2_216407484_216488053	216486118	C C	CGGGTTGG others(39): Show CGGGTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0005 a0005c0006t0001g0005	1	408	0.0025	46	c.31 others(57): Show c.3141_*3142insGGGTTGGGGGGGGGGGGGGGGGGGGGGGGGGGGG GGGGGGGGGGGG	SMARCAL1	ENSG00000138375.14	transcript	ENST00000357276.9	protein_coding		3066		chr2	TogoVar
SMC1A_chrX_53369149_53427654	53410926	C C	CAAAAAAA others(39): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	213	0.0047	46	c.125 others(63): Show c.1254+834_1254+835insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTT	SMC1A	ENSG00000072501.19	transcript	ENST00000322213.9	protein_coding	7/24			chrX	TogoVar
SMG5_chr1_156244224_156287825	156286143	T T	TCCACCCC others(39): Show TCCACCCCACTGTGTAGAGCCCATGCACTGCCCACAGTGAATCTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0128 a0001c0001t0002g0128	1	368	0.0027	46	c.-35 others(57): Show c.-3509_-3464dupGGCAGATTCACTGTGGGCAGTGCATGGGCTCTAC ACAGTGGGGTGG	SMG5	ENSG00000198952.8	transcript	ENST00000361813.5	protein_coding		3319		chr1	TogoVar
SMOC1_chr14_69874416_70037366	69930167	A A	ACCCCTGA others(39): Show ACCCCTGACAGCACCCTTCCCACTCCCCTGACAGCACCCTTCCCACT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01884.hp1 HG01243.hp2 HG01884.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0037 a0001c0001t0009g0038 a0001c0001t0009g0037 a0001c0001t0009g0038	2	270	0.0074	46	c.100 others(65): Show c.100-21930_100-21929insCCACTCCCCTGACAGCACCCTTCCCA CTCCCCTGACAGCACCCTTC	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC1_chr14_69874416_70037366	69930167	A A	ACCCCTGA others(39): Show ACCCCTGACAGCACCCTTCCCACTCCCCTGACAGCACCCTTCTCACC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02717.hp1 HG03579.hp2 HG02257.hp1 HG02717.hp1 HG03579.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0010 a0001c0001 a0006c0010	a0001c0001t0001 a0001c0001t0003 a0006c0010t0001 a0001c0001t0001 a0001c0001t0003 a0006c0010t0001	a0001c0001t0001g0031 a0001c0001t0003g0088 a0006c0010t0001g0035 a0001c0001t0001g0031 a0001c0001t0003g0088 a0006c0010t0001g0035	3	270	0.0111	46	c.100 others(65): Show c.100-21948_100-21903dupTCCCCTGACAGCACCCTTCTCACCCC CCTGACAGCACCCTTCCCAC	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMOC1_chr14_69874416_70037366	69930190	T T	TCCCCTGA others(39): Show TCCCCTGACAGCACCCTTCCCACTCCCCTGACAGCACCCTTCTCACC	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0219 a0001c0001t0005g0219	1	270	0.0037	46	c.100 others(65): Show c.100-21930_100-21929insCCACTCCCCTGACAGCACCCTTCTCA CCCCCCTGACAGCACCCTTC	SMOC1	ENSG00000198732.11	transcript	ENST00000361956.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr14	TogoVar
SMPX_chrX_21700978_21763116	21731569	T T	TGTATGTG others(39): Show TGTATGTGTACACATACACATTATGTGTGTATGTGTATATATACACA	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA19003.hp2 HG01258.hp1 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0120 a0001c0001t0001g0097 a0001c0001t0001g0120	2	289	0.0069	46	c.14 others(63): Show c.14+5979_*14+5980insTGTGTATATATACACATACACACATAAT GTGTATGTGTACACATAC	SMPX	ENSG00000091482.8	transcript	ENST00000379494.4	protein_coding	4/4			chrX	TogoVar
SMR3B_chr4_70378131_70395244	70391022	C C	CACACACA others(39): Show CACACACACACACATATATACACATACATATATATATACACATACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG01934.hp2 HG01981.hp1 others(8): Show HG00438.hp2 HG01934.hp2 HG01981.hp1 HG01981.hp2 HG03927.hp2 NA18612.hp1 NA18946.hp2 NA18963.hp2 NA18967.hp2 NA18986.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0048 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0048 a0001c0001t0001g0049	11	462	0.0238	46	c.11 others(57): Show c.1174_*1175insACACACACACACATATATACACATACATATATAT ATACACATACAT	SMR3B	ENSG00000171201.12	transcript	ENST00000304915.8	protein_coding		779		chr4	TogoVar
SMU1_chr9_33036765_33081674	33039536	C C	CATATATA others(39): Show CATATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01192.hp1 HG02145.hp1 others(2): Show HG00741.hp2 HG01192.hp1 HG02145.hp1 HG02258.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0020 a0001c0001t0002 a0001c0001t0005 a0001c0001t0020	a0001c0001t0002g0090 a0001c0001t0005g0304 a0001c0001t0005g0305 others(2): Show a0001c0001t0002g0090 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0020g0184 a0001c0001t0020g0282	5	418	0.0120	46	c.77 others(57): Show c.7756_*7757insATATATATATATATATATATATATATATATATAT ATATATATATAT	SMU1	ENSG00000122692.9	transcript	ENST00000397149.4	protein_coding		2228		chr9	TogoVar
SMURF1_chr7_99022440_99149108	99063251	A A	ATATATAT others(39): Show ATATATATAAGATTTATATATATATATATATATATATATATAAGATT	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0200 a0001c0001t0007g0200	1	264	0.0038	46	c.56- others(61): Show c.56-1415_56-1414insAATCTTATATATATATATATATATATATAT ATAAATCTTATATATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99063251	A A	ATATATAT others(39): Show ATATATATATAAGATTTATATATATATATATATATATATATAAGATT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0066 a0001c0001t0005g0066	1	264	0.0038	46	c.56- others(61): Show c.56-1415_56-1414insAATCTTATATATATATATATATATATATAT AAATCTTATATATATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMURF1_chr7_99022440_99149108	99063253	A A	ATATATAT others(39): Show ATATATATAAGATTTATATATATATATATATATATATATATAAGATT	intron_variant intron_variant	MODIFIER	NA19088.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0162 a0001c0001t0005g0162	1	264	0.0038	46	c.56- others(61): Show c.56-1417_56-1416insAATCTTATATATATATATATATATATATAT ATAAATCTTATATATA	SMURF1	ENSG00000198742.10	transcript	ENST00000361368.7	protein_coding	1/17			chr7	TogoVar
SMYD2_chr1_214276159_214342131	214299482	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATACACATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG03209.hp2 HG02886.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0278 a0001c0001t0004g0275 a0001c0001t0001g0278 a0001c0001t0004g0275	2	380	0.0053	46	c.174 others(63): Show c.174-5704_174-5703insTATATATATATATATATATATATATATA CACATATATATATATACA	SMYD2	ENSG00000143499.14	transcript	ENST00000366957.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
SMYD3_chr1_245744347_246512279	245774699	C C	CTCTCCAC others(39): Show CTCTCCACGGTCTCCCTCTCCCTCTCTTTCCACGGTCTCCCTCTCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00423.hp2 HG00597.hp2 others(40): Show HG00408.hp1 HG00423.hp2 HG00597.hp2 HG00621.hp1 HG00741.hp1 HG01109.hp2 HG01934.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02071.hp1 HG02109.hp1 HG02132.hp1 HG02165.hp1 HG02258.hp2 HG02300.hp1 HG02615.hp1 HG02647.hp1 HG02886.hp2 HG02895.hp1 HG02970.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03471.hp2 HG03491.hp1 NA18747.hp1 NA18963.hp2 NA18965.hp1 NA18965.hp2 NA18971.hp1 NA18971.hp2 NA18984.hp2 NA19000.hp1 NA19057.hp1 NA19057.hp2 NA19086.hp1 NA19090.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0012 others(4): Show a0001c0001 a0001c0002 a0001c0012 a0002c0003 a0002c0004 a0002c0005 a0002c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0012t0002 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0005t0001 a0002c0005t0002 a0002c0017t0001	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 others(40): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0086 a0001c0001t0001g0090 a0001c0001t0002g0023 a0001c0001t0002g0030 a0001c0001t0002g0032 a0001c0001t0002g0039 a0001c0001t0002g0051 a0001c0001t0002g0071 a0001c0001t0002g0085 a0001c0001t0002g0087 a0001c0002t0001g0012 a0001c0002t0001g0016 a0001c0002t0001g0020 a0001c0002t0001g0024 a0001c0002t0001g0041 a0001c0002t0001g0079 a0001c0002t0002g0010 a0001c0002t0002g0083 a0001c0012t0002g0074 a0002c0003t0001g0096 a0002c0003t0001g0101 a0002c0003t0001g0111 a0002c0003t0002g0130 a0002c0003t0002g0143 a0002c0004t0001g0098 a0002c0004t0001g0107 a0002c0004t0001g0140 a0002c0005t0001g0142 a0002c0005t0002g0115 a0002c0017t0001g0122	43	150	0.2867	46	c.107 others(67): Show c.1077-10551_1077-10550insAGGAGAGGGAGACCGTGGAAAGAG AGGGAGAGGGAGACCGTGGAGA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	245774729	C C	CACGGTCT others(39): Show CACGGTCTCCCTCTCCTTCTCCACGGTCTCCCTCTCCCTCTCTTTCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02622.hp2 HG00738.hp1 HG02622.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0038 a0002c0003t0001g0133 a0001c0001t0001g0038 a0002c0003t0001g0133	2	150	0.0133	46	c.107 others(67): Show c.1077-10581_1077-10580insAGAAAGAGAGGGAGAGGGAGACCG TGGAGAAGGAGAGGGAGACCGT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	10/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246428823	C C	CTGATTCA others(39): Show CTGATTCAAAGCCATGCAATCTACACCACAGCCCATGCTCTTAACCG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00544.hp2 others(48): Show HG00140.hp1 HG00423.hp1 HG00544.hp2 HG00597.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01934.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02071.hp1 HG02132.hp2 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02970.hp1 HG03130.hp1 HG03491.hp2 HG04115.hp1 HG04115.hp2 NA18522.hp1 NA18747.hp2 NA18962.hp1 NA18963.hp1 NA19000.hp1 NA19057.hp1 NA19086.hp1 NA19090.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0002c0003 a0002c0004 a0002c0007 a0002c0008 a0002c0016 a0002c0017	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0006t0001 a0001c0006t0003 a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0007t0001 a0002c0007t0004 a0002c0008t0001 a0002c0008t0002 a0002c0016t0001 a0002c0017t0001	a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0042 others(48): Show a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0067 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0002g0045 a0001c0001t0002g0052 a0001c0001t0002g0066 a0001c0001t0002g0085 a0001c0001t0002g0092 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0033 a0001c0002t0001g0053 a0001c0002t0001g0056 a0001c0002t0001g0058 a0001c0002t0001g0064 a0001c0002t0001g0079 a0001c0002t0002g0070 a0001c0002t0002g0083 a0001c0006t0001g0025 a0001c0006t0003g0001 a0002c0003t0001g0099 a0002c0003t0001g0133 a0002c0003t0002g0116 a0002c0003t0002g0131 a0002c0003t0002g0143 a0002c0003t0002g0145 a0002c0003t0002g0147 a0002c0004t0001g0098 a0002c0004t0001g0107 a0002c0004t0001g0117 a0002c0004t0001g0121 a0002c0007t0001g0120 a0002c0007t0001g0123 a0002c0007t0001g0124 a0002c0007t0001g0132 a0002c0007t0004g0134 a0002c0008t0001g0128 a0002c0008t0001g0135 a0002c0008t0002g0125 a0002c0016t0001g0097 a0002c0017t0001g0122	51	150	0.3400	46	c.165 others(65): Show c.165-73730_165-73729insCGGTTAAGAGCATGGGCTGTGGTGTA GATTGCATGGCTTTGAATCA	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481607	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATACATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	150	0.0067	46	c.164 others(65): Show c.164+25446_164+25447insGTATATATATATATATGTATATATAT ATATATATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SMYD3_chr1_245744347_246512279	246481607	T T	TATATATA others(39): Show TATATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG02071.hp2 NA19086.hp2 HG01496.hp1 HG02071.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0014 a0001c0001 a0001c0014	a0001c0001t0002 a0001c0014t0002 a0001c0001t0002 a0001c0014t0002	a0001c0001t0002g0040 a0001c0001t0002g0081 a0001c0014t0002g0091 a0001c0001t0002g0040 a0001c0001t0002g0081 a0001c0014t0002g0091	3	150	0.0200	46	c.164 others(65): Show c.164+25446_164+25447insGTATATATATATATATATATATATAT ATATATATATATATATATAT	SMYD3	ENSG00000185420.19	transcript	ENST00000490107.6	protein_coding	1/11			chr1	TogoVar
SNAPC4_chr9_136370571_136405170	136403322	G G	GGGGGAGA others(39): Show GGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	380	0.0026	46	c.-31 others(57): Show c.-3199_-3198insGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGT CCCTTTCTCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3153		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403464	G G	GGGGAAGA others(39): Show GGGGAAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	380	0.0026	46	c.-33 others(57): Show c.-3341_-3340insGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGT CCCTTTCTTCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3295		chr9	TogoVar
SNAPC4_chr9_136370571_136405170	136403464	G G	GGGGGAGA others(39): Show GGGGGAGAAAGGGACAGGGTCCCAGGGAGCAAGGGGTGGGGTTTGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0105 a0001c0012t0001g0105	1	380	0.0026	46	c.-33 others(57): Show c.-3341_-3340insGGCAAACCCCACCCCTTGCTCCCTGGGACCCTGT CCCTTTCTCCCC	SNAPC4	ENSG00000165684.6	transcript	ENST00000684778.1	protein_coding		3295		chr9	TogoVar
SNIP1_chr1_37529449_37559293	37535230	T T	TTATATAT others(39): Show TTATATATATATATATATATATATATATATATATATATATATATATA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19007.hp2 NA19064.hp1 NA19007.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0157 a0001c0001t0036g0170 a0001c0001t0036g0157 a0001c0001t0036g0170	2	394	0.0051	46	c.25 others(57): Show c.2517_*2518insTATATATATATATATATATATATATATATATATA TATATATATATA	SNIP1	ENSG00000163877.11	transcript	ENST00000296215.8	protein_coding	4/4	2517		chr1	TogoVar

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