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
SCN11A_chr3_38840764_39056944	38877424	ATATATAT others(25): Show ATATATATGGTGTATATACTATATATATGGTAT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG02071.hp2 HG02602.hp2 others(6): Show HG00280.hp2 HG02071.hp2 HG02602.hp2 HG02738.hp1 NA18957.hp1 NA19080.hp2 NA19081.hp1 NA19086.hp2 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0155 a0001c0002t0001g0161 a0001c0002t0001g0162 others(6): Show a0001c0002t0001g0155 a0001c0002t0001g0161 a0001c0002t0001g0162 a0001c0002t0001g0178 a0001c0002t0001g0183 a0001c0002t0001g0186 a0001c0002t0001g0189 a0001c0002t0001g0192 a0001c0002t0001g0194	9	314	0.0287	-32	c.339 others(51): Show c.3393+2494_3393+2525delATACCATATATATAGTATATACACCA TATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38877455	ATATATAT others(25): Show ATATATATGGTGTATATACTATATATATGGTAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0176 a0001c0002t0001g0176	1	314	0.0032	-32	c.339 others(51): Show c.3393+2463_3393+2494delATACCATATATATAGTATATACACCA TATATA	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	23/29			chr3	TogoVar
SCN2A_chr2_165234414_165397304	165291345	GTCGTTCG others(25): Show GTCGTTCGTTCCTTCCTTCCTTCCTTCCTTCCT	G G	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG03453.hp1 NA18906.hp2 HG02897.hp2 HG03453.hp1 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0201	3	358	0.0084	-32	c.-51 others(49): Show c.-51-4425_-51-4394delGTTCGTTCCTTCCTTCCTTCCTTCCTTC CTTC	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN5A_chr3_38543062_38654687	38555077	ATATATAT others(25): Show ATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0006 a0006	a0006c0067 a0006c0067	a0006c0067t0028 a0006c0067t0028	a0006c0067t0028g0282 a0006c0067t0028g0282	1	340	0.0029	-32	c.454 others(49): Show c.4542+547_4543-529delAAAATATATATATATATATATATATATA TATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166414894	ATATTATT others(25): Show ATATTATTATATAGGATAATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0025 a0005c0005t0001g0025	1	394	0.0025	-32	c.341 others(51): Show c.3414+1781_3415-1774delATATATATTATATATTATCCTATATA ATAATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414923	ATATTATT others(25): Show ATATTATTATATAGGATAATATATAATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0025 a0025	a0025c0029 a0025c0029	a0025c0029t0001 a0025c0029t0001	a0025c0029t0001g0211 a0025c0029t0001g0211	1	394	0.0025	-32	c.341 others(51): Show c.3414+1752_3414+1783delATATATATTATATATTATCCTATATA ATAATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166340540	CCCTTTCT others(25): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01081.hp1 HG01123.hp1 others(33): Show HG00741.hp2 HG01081.hp1 HG01123.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp2 HG01358.hp1 HG01496.hp1 HG02074.hp2 HG02129.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02717.hp1 HG02818.hp2 HG02970.hp2 HG02976.hp1 HG03540.hp2 HG03579.hp1 HG04184.hp1 HG04228.hp2 NA18906.hp2 NA18939.hp2 NA18981.hp1 NA18994.hp1 NA19086.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0006 a0008 a0009 a0016 a0018 a0023	a0001c0002 a0001c0003 a0001c0007 others(14): Show a0001c0002 a0001c0003 a0001c0007 a0001c0012 a0001c0026 a0001c0054 a0002c0020 a0002c0066 a0004c0008 a0004c0038 a0006c0019 a0006c0051 a0008c0021 a0009c0023 a0016c0039 a0018c0043 a0023c0046	a0001c0002t0001 a0001c0002t0006 a0001c0002t0028 others(22): Show a0001c0002t0001 a0001c0002t0006 a0001c0002t0028 a0001c0003t0001 a0001c0003t0002 a0001c0003t0006 a0001c0003t0012 a0001c0003t0013 a0001c0007t0001 a0001c0007t0005 a0001c0007t0012 a0001c0012t0001 a0001c0026t0008 a0001c0054t0001 a0002c0020t0007 a0002c0066t0023 a0004c0008t0001 a0004c0038t0009 a0006c0019t0004 a0006c0051t0004 a0008c0021t0001 a0009c0023t0009 a0016c0039t0003 a0018c0043t0007 a0023c0046t0018	a0001c0002t0001g0017 a0001c0002t0001g0250 a0001c0002t0001g0280 others(33): Show a0001c0002t0001g0017 a0001c0002t0001g0250 a0001c0002t0001g0280 a0001c0002t0006g0269 a0001c0002t0028g0253 a0001c0003t0001g0254 a0001c0003t0001g0258 a0001c0003t0001g0278 a0001c0003t0001g0279 a0001c0003t0002g0265 a0001c0003t0006g0274 a0001c0003t0006g0275 a0001c0003t0012g0261 a0001c0003t0013g0289 a0001c0007t0001g0266 a0001c0007t0005g0259 a0001c0007t0005g0260 a0001c0007t0012g0018 a0001c0012t0001g0264 a0001c0026t0008g0267 a0001c0054t0001g0016 a0002c0020t0007g0257 a0002c0020t0007g0287 a0002c0066t0023g0012 a0004c0008t0001g0276 a0004c0038t0009g0281 a0006c0019t0004g0251 a0006c0019t0004g0252 a0006c0051t0004g0263 a0008c0021t0001g0262 a0009c0023t0009g0023 a0009c0023t0009g0024 a0009c0023t0009g0025 a0016c0039t0003g0268 a0018c0043t0007g0277 a0023c0046t0018g0019	36	296	0.1216	-32	c.-50 others(51): Show c.-50-28766_-50-28735delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGG	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26			chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23343581	GAGAAAGA others(25): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp2 NA18979.hp1 others(4): Show NA18955.hp1 NA18955.hp2 NA18979.hp1 NA18982.hp2 NA18995.hp2 NA19057.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0041 others(4): Show a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0041 a0001c0001t0001g0100 a0001c0001t0001g0117 a0001c0001t0001g0135 a0001c0001t0001g0136	7	306	0.0229	-32	c.-8- others(47): Show c.-8-4973_-8-4942delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AA	SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCT_chr11_621309_632181	628927	TTCTTTCT others(25): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG02145.hp2 HG01243.hp1 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	411	0.0049	-32	c.-18 others(43): Show c.-1816_-1785delGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1747		chr11	TogoVar
SDC2_chr8_96488813_96616790	96601265	GGAGGGAG others(25): Show GGAGGGAGTAGAATGCAGAGTGGAGAAGATGAT	G G	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0076 a0001c0001t0002g0076	1	334	0.0030	-32	c.173 others(49): Show c.173-1125_173-1094delGAGTAGAATGCAGAGTGGAGAAGATGAT GAGG	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC3_chr1_30864466_30913758	30899202	TCAGCCTC others(25): Show TCAGCCTCTGGAGTAGCTGGGATTACAGGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18959.hp2 NA19079.hp1 NA18950.hp1 NA18959.hp2 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0015 a0001c0001t0081 a0001c0001t0002 a0001c0001t0015 a0001c0001t0081	a0001c0001t0002g0082 a0001c0001t0015g0117 a0001c0001t0081g0309 a0001c0001t0002g0082 a0001c0001t0015g0117 a0001c0001t0081g0309	3	386	0.0078	-32	c.138 others(49): Show c.138+9215_138+9246delCACACCTGTAATCCCAGCTACTCCAGAG GCTG	SDC3	ENSG00000162512.16	transcript	ENST00000339394.7	protein_coding	1/4			chr1	TogoVar
SDHA_chr5_213320_262082	256877	CTGCAGCC others(25): Show CTGCAGCCTCAAACTCCTGGGCAGCTCAGGTGA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0055 a0001c0001t0007g0055	1	266	0.0038	-32	c.45 others(41): Show c.459_*490delGCAGCCTCAAACTCCTGGGCAGCTCAGGTGAT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding	15/15	459	INFO_REALIGN_3_PRIME	chr5	TogoVar
SDHA_chr5_213320_262082	258577	CGCCAGAG others(25): Show CGCCAGAGCATTACCGTGTGAGCTCCGCCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0031 a0001c0001t0002g0031	1	266	0.0038	-32	c.21 others(43): Show c.2158_*2189delGCCAGAGCATTACCGTGTGAGCTCCGCCTCCT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		1496		chr5	TogoVar
SDHA_chr5_213320_262082	258609	TGCCAGAG others(25): Show TGCCAGAGCATTACCGTGTGAGCTCCGCCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01256.hp2 HG02738.hp1 others(4): Show HG00639.hp1 HG01256.hp2 HG02738.hp1 HG02922.hp2 HG03491.hp1 HG03492.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0046 others(2): Show a0001c0001t0002g0008 a0001c0001t0002g0016 a0001c0001t0002g0046 a0001c0001t0002g0083 a0001c0001t0002g0179	7	266	0.0263	-32	c.21 others(43): Show c.2190_*2221delGCCAGAGCATTACCGTGTGAGCTCCGCCTCCC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		1528		chr5	TogoVar
SDHA_chr5_213320_262082	259026	GAGCATTA others(25): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG00735.hp1 HG01069.hp2 others(38): Show HG00544.hp1 HG00735.hp1 HG01069.hp2 HG01071.hp1 HG01167.hp2 HG01175.hp1 HG01516.hp2 HG01943.hp2 HG02148.hp2 HG02165.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp2 HG03239.hp1 HG03490.hp2 HG03927.hp2 HG04184.hp1 HG04228.hp1 HG04228.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18952.hp2 NA18957.hp2 NA18960.hp2 NA18968.hp1 NA18973.hp2 NA18979.hp2 NA18982.hp2 NA18984.hp1 NA18989.hp2 NA18992.hp1 NA19004.hp2 NA19010.hp2 NA19058.hp2 NA19068.hp1 NA19089.hp1 NA19091.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0005c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0009t0002 a0005c0006t0002	a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 others(27): Show a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0034 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0039 a0001c0001t0002g0051 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0003g0049 a0001c0001t0005g0001 a0001c0001t0005g0004 a0001c0002t0001g0151 a0001c0009t0002g0006 a0001c0009t0002g0063 a0005c0006t0002g0041 a0005c0006t0002g0048 a0005c0006t0002g0065	41	266	0.1541	-32	c.26 others(43): Show c.2607_*2638delAGCATTACCGTGTGAGCTCCGCCTCCCGCCAC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		1945		chr5	TogoVar
SDHA_chr5_213320_262082	259274	TCCCGCCA others(25): Show TCCCGCCAGAGCATTACCGTGTGAGCTCCGCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00738.hp1 others(12): Show HG00280.hp2 HG00323.hp2 HG00738.hp1 HG00741.hp1 HG01081.hp1 HG01109.hp1 HG01175.hp2 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp2 HG01517.hp2 HG01928.hp1 HG02683.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0179 a0001c0001t0003g0007 a0001c0001t0003g0090 others(8): Show a0001c0001t0002g0179 a0001c0001t0003g0007 a0001c0001t0003g0090 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0093 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100	15	266	0.0564	-32	c.28 others(43): Show c.2855_*2886delCCCGCCAGAGCATTACCGTGTGAGCTCCGCCC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2193		chr5	TogoVar
SDHA_chr5_213320_262082	259346	GAGCATTA others(25): Show GAGCATTACCGTGTGAGCTCCGCCCCCCGCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	266	0.0038	-32	c.29 others(43): Show c.2927_*2958delAGCATTACCGTGTGAGCTCCGCCCCCCGCCAC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2265		chr5	TogoVar
SDHA_chr5_213320_262082	259761	CGAGCATT others(25): Show CGAGCATTACCGTGTGAGCTCCGCCTCCCGCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG03471.hp2 HG02965.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0147 a0001c0002t0001g0148 a0001c0002t0001g0147 a0001c0002t0001g0148	2	266	0.0075	-32	c.33 others(43): Show c.3342_*3373delGAGCATTACCGTGTGAGCTCCGCCTCCCGCCA	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2680		chr5	TogoVar
SDHA_chr5_213320_262082	259983	CCAGAGCA others(25): Show CCAGAGCATTACCGTGTGAGCTCCGCCTCCCCA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0066 a0001c0001t0002g0066	1	266	0.0038	-32	c.35 others(43): Show c.3564_*3595delCAGAGCATTACCGTGTGAGCTCCGCCTCCCCA	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		2902		chr5	TogoVar
SDHA_chr5_213320_262082	260241	GAGCATTA others(25): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp1 NA18941.hp2 HG00438.hp1 NA18941.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0124 a0001c0002t0001g0003 a0001c0002t0001g0124	2	266	0.0075	-32	c.38 others(43): Show c.3822_*3853delAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3160		chr5	TogoVar
SDHA_chr5_213320_262082	260273	CAGCATTA others(25): Show CAGCATTACCGTGTGAGCTCCGCCTCCCGCCAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0129 a0001c0002t0001g0129	1	266	0.0038	-32	c.38 others(43): Show c.3854_*3885delAGCATTACCGTGTGAGCTCCGCCTCCCGCCAG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3192		chr5	TogoVar
SDHA_chr5_213320_262082	260398	ACAGAGCA others(25): Show ACAGAGCATTACCGTGTGAGCTCCGCCTCCCGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp2 NA18943.hp2 HG04228.hp2 NA18943.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0005c0006t0002 a0001c0001t0002 a0005c0006t0002	a0001c0001t0002g0006 a0005c0006t0002g0048 a0001c0001t0002g0006 a0005c0006t0002g0048	2	266	0.0075	-32	c.39 others(43): Show c.3979_*4010delCAGAGCATTACCGTGTGAGCTCCGCCTCCCGC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3317		chr5	TogoVar
SDHA_chr5_213320_262082	260750	TCACAGCA others(25): Show TCACAGCATTACCGTGTGAGCTCCGCCTCCCGA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	266	0.0038	-32	c.43 others(43): Show c.4331_*4362delCACAGCATTACCGTGTGAGCTCCGCCTCCCGA	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3669		chr5	TogoVar
SDHA_chr5_213320_262082	260812	TGCCAGAG others(25): Show TGCCAGAGCATTACCGTGTGAGCTCCGCCTCCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0022	1	266	0.0038	-32	c.43 others(43): Show c.4393_*4424delGCCAGAGCATTACCGTGTGAGCTCCGCCTCCC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3731		chr5	TogoVar
SDHA_chr5_213320_262082	260913	GAGCATTA others(25): Show GAGCATTACCGTGTGAGCTCCGCCCCCCGCCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	266	0.0038	-32	c.44 others(43): Show c.4494_*4525delAGCATTACCGTGTGAGCTCCGCCCCCCGCCAC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3832		chr5	TogoVar
SDHA_chr5_213320_262082	260945	CAGCATTA others(25): Show CAGCATTACCGTGTGAGCTCCGCCTCCCGTCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	266	0.0038	-32	c.45 others(43): Show c.4526_*4557delAGCATTACCGTGTGAGCTCCGCCTCCCGTCCG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3864		chr5	TogoVar
SDHA_chr5_213320_262082	261073	GAGCATTA others(25): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp2 HG01106.hp2 HG01257.hp1 others(2): Show HG00741.hp2 HG01106.hp2 HG01257.hp1 HG01496.hp2 NA19001.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0117 a0001c0002t0001g0142 a0001c0002t0001g0143 others(2): Show a0001c0002t0001g0117 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0152 a0001c0002t0001g0156	5	266	0.0188	-32	c.46 others(43): Show c.4654_*4685delAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		3992		chr5	TogoVar
SDHA_chr5_213320_262082	261261	GTCACAGC others(25): Show GTCACAGCATTACCGTGTGAGCTCCGCCTCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp2 HG03942.hp1 HG04228.hp1 others(4): Show HG01516.hp2 HG03942.hp1 HG04228.hp1 NA18984.hp1 NA18994.hp1 NA19004.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 a0001c0001 a0001c0002 a0001c0009	a0001c0001t0002 a0001c0002t0001 a0001c0009t0002 a0001c0001t0002 a0001c0002t0001 a0001c0009t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0051 others(3): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0051 a0001c0001t0002g0059 a0001c0002t0001g0002 a0001c0009t0002g0063	7	266	0.0263	-32	c.48 others(43): Show c.4842_*4873delTCACAGCATTACCGTGTGAGCTCCGCCTCCCC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4180		chr5	TogoVar
SDHA_chr5_213320_262082	261293	CGCAGAGC others(25): Show CGCAGAGCATTACCGTGTGAGCTCCGCCTCCCG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00597.hp1 others(52): Show HG00099.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG01071.hp2 HG01256.hp2 HG01433.hp2 HG01516.hp1 HG01517.hp1 HG01943.hp2 HG02074.hp2 HG02129.hp1 HG02602.hp1 HG02698.hp1 HG02738.hp1 HG02738.hp2 HG02922.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp1 HG03688.hp2 HG03942.hp2 HG04115.hp1 HG04204.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18946.hp2 NA18949.hp1 NA18952.hp2 NA18962.hp2 NA18966.hp1 NA18975.hp1 NA18982.hp2 NA18988.hp1 NA18989.hp2 NA19002.hp2 NA19003.hp1 NA19010.hp1 NA19011.hp1 NA19058.hp2 NA19066.hp1 NA19068.hp1 NA19078.hp1 NA19085.hp1 NA19088.hp2 NA19089.hp1 NA20752.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 others(1): Show a0001c0001 a0001c0002 a0001c0010 a0001c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0002t0001 a0001c0010t0002 a0001c0011t0002	a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 others(44): Show a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0010 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0039 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0058 a0001c0001t0002g0060 a0001c0001t0002g0061 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0071 a0001c0001t0002g0072 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0081 a0001c0001t0002g0082 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0003g0044 a0001c0001t0005g0001 a0001c0001t0005g0073 a0001c0001t0007g0055 a0001c0002t0001g0139 a0001c0010t0002g0030 a0001c0011t0002g0074	55	266	0.2068	-32	c.48 others(43): Show c.4874_*4905delGCAGAGCATTACCGTGTGAGCTCCGCCTCCCG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4212		chr5	TogoVar
SDHA_chr5_213320_262082	261390	GCAGAGCA others(25): Show GCAGAGCATTACCGTGTGAGCTCCGCCTCCCGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0051 a0001c0001t0002g0051	1	266	0.0038	-32	c.49 others(43): Show c.4971_*5002delCAGAGCATTACCGTGTGAGCTCCGCCTCCCGT	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4309		chr5	TogoVar
SDHA_chr5_213320_262082	261613	GTCACAGC others(25): Show GTCACAGCATTACCGTGTGAGCTCCGCCTCCCC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp1 NA18957.hp1 HG02056.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0068 a0001c0002t0001g0129 a0001c0001t0002g0068 a0001c0002t0001g0129	2	266	0.0075	-32	c.51 others(43): Show c.5194_*5225delTCACAGCATTACCGTGTGAGCTCCGCCTCCCC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4532		chr5	TogoVar
SDHA_chr5_213320_262082	261617	CAGCATTA others(25): Show CAGCATTACCGTGTGAGCTCCGCCTCCCCACAG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20752.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0016	1	266	0.0038	-32	c.51 others(43): Show c.5198_*5229delAGCATTACCGTGTGAGCTCCGCCTCCCCACAG	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4536		chr5	TogoVar
SDHA_chr5_213320_262082	261874	GAGCATTA others(25): Show GAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	266	0.0038	-32	c.54 others(43): Show c.5455_*5486delAGCATTACCGTGTGAGCTCCGCCTCCCGTCAC	SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding		4793		chr5	TogoVar
SDHB_chr1_17013722_17059032	17036673	CATATATA others(25): Show CATATATAAATATAAATATTTATATAAATATGA	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02818.hp2 HG02965.hp1 others(8): Show HG02572.hp1 HG02818.hp2 HG02965.hp1 HG03098.hp1 HG04184.hp1 NA18522.hp2 NA18945.hp2 NA18982.hp2 NA18988.hp2 NA19240.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0043 others(7): Show a0001c0001t0001g0012 a0001c0001t0001g0040 a0001c0001t0001g0043 a0001c0001t0001g0092 a0001c0001t0001g0119 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0188 a0001c0001t0001g0192	11	368	0.0299	-32	c.201 others(49): Show c.201-3560_201-3529delTCATATTTATATAAATATTTATATTTAT ATAT	SDHB	ENSG00000117118.11	transcript	ENST00000375499.8	protein_coding	2/7			chr1	TogoVar
SDK1_chr7_3296252_4274000	3718521	CAATAAAT others(25): Show CAATAAATAAATAAATAAATAAATAAATAAATA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02717.hp1 HG02647.hp2 HG02717.hp1	a0002 a0027 a0002 a0027	a0002c0013 a0027c0068 a0002c0013 a0027c0068	a0002c0013t0064 a0027c0068t0014 a0002c0013t0064 a0027c0068t0014	a0002c0013t0064g0026 a0027c0068t0014g0014 a0002c0013t0064g0026 a0027c0068t0014g0014	2	116	0.0172	-32	c.713 others(51): Show c.713+76453_713+76484delAATAAATAAATAAATAAATAAATAAA TAAATA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73483659	GTGTATAT others(25): Show GTGTATATATATATATATATATATTTATATATA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0005 a0005	a0005c0065 a0005c0065	a0005c0065t0013 a0005c0065t0013	a0005c0065t0013g0066 a0005c0065t0013g0066	1	204	0.0049	-32	c.225 others(51): Show c.225-11473_225-11442delTATATATAAATATATATATATATATA TATACA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73500165	GTCCATCC others(25): Show GTCCATCCTCCCTCCATTCTCCTCCATCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	204	0.0049	-32	c.224 others(49): Show c.224+7241_224+7272delTGGAGGATGGAGGAGAATGGAGGGAGGA TGGA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73582212	ATTTGGGG others(25): Show ATTTGGGGGCGCACACCACGCAGGCATCAGCAT	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00639.hp1 HG04204.hp2 HG00544.hp2 HG00639.hp1 HG04204.hp2	a0001 a0007 a0009 a0001 a0007 a0009	a0001c0023 a0007c0083 a0009c0021 a0001c0023 a0007c0083 a0009c0021	a0001c0023t0008 a0007c0083t0076 a0009c0021t0019 a0001c0023t0008 a0007c0083t0076 a0009c0021t0019	a0001c0023t0008g0034 a0007c0083t0076g0037 a0009c0021t0019g0045 a0001c0023t0008g0034 a0007c0083t0076g0037 a0009c0021t0019g0045	3	204	0.0147	-32	c.64+ others(49): Show c.64+61781_64+61812delATGCTGATGCCTGCGTGGTGTGCGCCCC CAAA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDR16C5_chr8_56295005_56325175	56310184	AAGGAGGA others(25): Show AAGGAGGAGGAGGAAGGAGGAGGAGGAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp1 HG00438.hp1 others(80): Show HG00323.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp2 HG00642.hp2 HG00738.hp2 HG00741.hp2 HG01106.hp1 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01884.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp2 HG02135.hp1 HG02145.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp1 HG02896.hp2 HG02897.hp2 HG03017.hp2 HG03098.hp2 HG03654.hp2 HG03669.hp2 HG03942.hp2 HG06807.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18971.hp1 NA18974.hp1 NA18977.hp1 NA18979.hp2 NA18981.hp2 NA18990.hp2 NA18992.hp2 NA18993.hp1 NA18999.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp2 NA19055.hp2 NA19056.hp2 NA19058.hp1 NA19060.hp1 NA19062.hp1 NA19064.hp2 NA19068.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19082.hp2 NA19084.hp1 NA19088.hp1 NA20805.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0018 a0002c0002t0001	a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0014 others(45): Show a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0081 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0226 a0001c0001t0004g0038 a0001c0001t0004g0082 a0001c0001t0004g0098 a0001c0001t0017g0091 a0001c0001t0018g0096 a0002c0002t0001g0023	83	398	0.2085	-32	c.466 others(49): Show c.466-1189_466-1158delCCTTCCTCCTCCTCCTCCTTCCTCCTCC TCCT	SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding	3/6			chr8	TogoVar
SDSL_chr12_113417380_113443276	113432209	CTTCTTTC others(25): Show CTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	298	0.0034	-32	c.355 others(49): Show c.355-1872_355-1841delTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCT	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
SEC16A_chr9_136435105_136488040	136443254	CGGGCCTG others(25): Show CGGGCCTGGTGTCCACGCAGAGCTGAGCACGGT	C C	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0017 a0017	a0017c0022 a0017c0022	a0017c0022t0007 a0017c0022t0007	a0017c0022t0007g0029 a0017c0022t0007g0029	1	306	0.0033	-32	c.700 others(49): Show c.7005+537_7005+568delACCGTGCTCAGCTCTGCGTGGACACCAG GCCC	SEC16A	ENSG00000148396.19	transcript	ENST00000684901.1	protein_coding	31/31			chr9	TogoVar
SEC24C_chr10_73739372_73777161	73773090	GCCAGGAC others(25): Show GCCAGGACTCCAGGTGTCCAGGACTCCAGGTGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(66): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00408.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp2 HG01516.hp2 HG02015.hp2 HG02055.hp1 HG02109.hp1 HG02280.hp2 HG02486.hp2 HG02602.hp2 HG02683.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG03017.hp2 HG03041.hp2 HG03239.hp2 HG03490.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp1 HG03669.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp1 HG04184.hp2 HG04204.hp1 NA18522.hp2 NA18939.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18970.hp2 NA18985.hp2 NA18986.hp2 NA18987.hp1 NA18993.hp1 NA19000.hp2 NA19007.hp1 NA19010.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19076.hp2 NA19240.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2	a0001 a0008 a0012 a0001 a0008 a0012	a0001c0001 a0001c0012 a0001c0014 others(2): Show a0001c0001 a0001c0012 a0001c0014 a0008c0013 a0012c0016	a0001c0001t0001 a0001c0001t0006 a0001c0012t0001 others(3): Show a0001c0001t0001 a0001c0001t0006 a0001c0012t0001 a0001c0014t0001 a0008c0013t0001 a0012c0016t0001	a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(47): Show a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0220 a0001c0001t0001g0230 a0001c0001t0006g0208 a0001c0012t0001g0035 a0001c0014t0001g0219 a0008c0013t0001g0211 a0012c0016t0001g0004	69	322	0.2143	-32	c.19 others(43): Show c.1996_*2027delCCAGGACTCCAGGTGTCCAGGACTCCAGGTGT	SEC24C	ENSG00000176986.16	transcript	ENST00000345254.9	protein_coding		930		chr10	TogoVar
SEC31A_chr4_82813509_82896153	82837158	CATATATA others(25): Show CATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02647.hp1 HG03225.hp2 HG02615.hp1 HG02647.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0165 a0001c0001t0001g0197 a0001c0001t0001g0198	3	328	0.0092	-32	c.296 others(51): Show c.2968+4950_2968+4981delATATATATATATATATATATATATAT ATATAT	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	22/26			chr4	TogoVar
SEC31A_chr4_82813509_82896153	82865536	GTATATAT others(25): Show GTATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00558.hp1 others(100): Show HG00140.hp2 HG00280.hp1 HG00558.hp1 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp1 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01167.hp2 HG01168.hp1 HG01175.hp2 HG01256.hp2 HG01258.hp1 HG01346.hp2 HG01361.hp1 HG01433.hp1 HG01496.hp1 HG01515.hp2 HG01891.hp2 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp1 HG02055.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02523.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp2 HG02717.hp2 HG02723.hp2 HG02809.hp2 HG02976.hp2 HG03041.hp1 HG03225.hp2 HG03239.hp2 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03669.hp1 HG03688.hp2 HG03831.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18612.hp2 NA18942.hp2 NA18945.hp1 NA18946.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18965.hp2 NA18967.hp2 NA18973.hp1 NA18975.hp1 NA18981.hp2 NA18984.hp2 NA18986.hp2 NA18990.hp2 NA18991.hp1 NA18993.hp2 NA18994.hp2 NA18999.hp1 NA19003.hp2 NA19007.hp2 NA19010.hp2 NA19011.hp1 NA19054.hp2 NA19056.hp2 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19070.hp1 NA19072.hp1 NA19077.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp1 NA19086.hp1 NA19088.hp1 NA19089.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0007 others(1): Show a0001 a0006 a0007 a0009	a0001c0001 a0001c0002 a0001c0007 others(5): Show a0001c0001 a0001c0002 a0001c0007 a0001c0018 a0001c0019 a0006c0016 a0007c0017 a0009c0020	a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 others(5): Show a0001c0001t0001 a0001c0002t0001 a0001c0007t0001 a0001c0018t0001 a0001c0019t0001 a0006c0016t0001 a0007c0017t0001 a0009c0020t0001	a0001c0001t0001g0100 a0001c0001t0001g0197 a0001c0001t0001g0198 others(100): Show a0001c0001t0001g0100 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0002t0001g0030 a0001c0002t0001g0082 a0001c0002t0001g0206 a0001c0002t0001g0207 a0001c0002t0001g0208 a0001c0002t0001g0209 a0001c0002t0001g0211 a0001c0002t0001g0212 a0001c0002t0001g0213 a0001c0002t0001g0214 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0001g0219 a0001c0002t0001g0220 a0001c0002t0001g0221 a0001c0002t0001g0222 a0001c0002t0001g0223 a0001c0002t0001g0224 a0001c0002t0001g0225 a0001c0002t0001g0226 a0001c0002t0001g0227 a0001c0002t0001g0228 a0001c0002t0001g0229 a0001c0002t0001g0230 a0001c0002t0001g0231 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0234 a0001c0002t0001g0235 a0001c0002t0001g0236 a0001c0002t0001g0237 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0241 a0001c0002t0001g0242 a0001c0002t0001g0243 a0001c0002t0001g0244 a0001c0002t0001g0245 a0001c0002t0001g0247 a0001c0002t0001g0248 a0001c0002t0001g0249 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0253 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0256 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0263 a0001c0002t0001g0264 a0001c0002t0001g0265 a0001c0002t0001g0266 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0276 a0001c0002t0001g0278 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0286 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0292 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0007t0001g0246 a0001c0007t0001g0277 a0001c0018t0001g0238 a0001c0019t0001g0293 a0006c0016t0001g0005 a0007c0017t0001g0210 a0009c0020t0001g0218	103	328	0.3140	-32	c.119 others(49): Show c.1198-970_1198-939delTATATATATATATATATATATATATATA TATA	SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	10/26			chr4	TogoVar
SECTM1_chr17_82316024_82338766	82318363	ATGTGTGT others(25): Show ATGTGTGTGCAGAGACGGGTGCGTGTGGACACG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02040.hp1 HG03017.hp1 others(2): Show HG02015.hp2 HG02040.hp1 HG03017.hp1 NA18942.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0004 a0001c0002t0002g0001 a0001c0002t0002g0026 a0001c0001t0001g0004 a0001c0002t0002g0001 a0001c0002t0002g0026	5	374	0.0134	-32	c.37 others(43): Show c.3766_*3797delCGTGTCCACACGCACCCGTCTCTGCACACACA	SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding		2660		chr17	TogoVar
SEL1L3_chr4_25742433_25867988	25790610	AGAAGGAA others(25): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00735.hp1 others(44): Show HG00140.hp1 HG00642.hp1 HG00735.hp1 HG01070.hp2 HG01081.hp1 HG01169.hp2 HG01346.hp2 HG01433.hp2 HG01516.hp2 HG01884.hp2 HG01928.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02738.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp1 HG03130.hp2 HG03225.hp2 HG03471.hp2 HG03490.hp2 HG03516.hp2 HG03710.hp2 HG03942.hp1 HG04184.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0005	a0001c0001 a0001c0003 a0001c0006 others(6): Show a0001c0001 a0001c0003 a0001c0006 a0001c0008 a0001c0011 a0002c0002 a0002c0009 a0004c0007 a0005c0022	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0003t0002 a0001c0006t0004 a0001c0008t0002 a0001c0008t0012 a0001c0011t0003 a0002c0002t0006 a0002c0009t0004 a0002c0009t0007 a0004c0007t0002 a0005c0022t0004	a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0001g0258 others(44): Show a0001c0001t0001g0104 a0001c0001t0001g0117 a0001c0001t0001g0258 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0023 a0001c0001t0002g0034 a0001c0001t0002g0071 a0001c0001t0002g0099 a0001c0001t0002g0111 a0001c0001t0002g0128 a0001c0001t0002g0134 a0001c0001t0002g0140 a0001c0001t0002g0151 a0001c0001t0002g0174 a0001c0001t0002g0192 a0001c0001t0002g0199 a0001c0001t0002g0205 a0001c0001t0002g0214 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0289 a0001c0001t0002g0294 a0001c0001t0003g0026 a0001c0001t0003g0149 a0001c0001t0003g0244 a0001c0001t0003g0286 a0001c0001t0004g0130 a0001c0001t0005g0186 a0001c0001t0005g0300 a0001c0001t0011g0004 a0001c0001t0011g0005 a0001c0003t0002g0025 a0001c0006t0004g0299 a0001c0008t0002g0142 a0001c0008t0012g0143 a0001c0011t0003g0172 a0002c0002t0006g0268 a0002c0009t0004g0267 a0002c0009t0004g0269 a0002c0009t0007g0298 a0004c0007t0002g0167 a0005c0022t0004g0284	47	312	0.1506	-32	c.195 others(47): Show c.1957-68_1957-37delCTTCCTTCCTTCCTTCCTTCCTTCCTTCCT TC	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25790644	AAGGAAGG others(25): Show AAGGAAGGAAGGAAGGAAGGAAGGGAGGGAGGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	312	0.0032	-32	c.195 others(48): Show c.1957-102_1957-71delCCCTCCCTCCCTTCCTTCCTTCCTTCCTT CCT	SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23			chr4	TogoVar
SELENOF_chr1_86857445_86919126	86893518	TGAGGCTG others(25): Show TGAGGCTGGGGAATTGCTTGAAACCGGGAGGCA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01884.hp2 HG02647.hp2 others(7): Show HG00323.hp2 HG01884.hp2 HG02647.hp2 HG02896.hp2 HG02897.hp2 HG03491.hp2 HG03540.hp1 HG03831.hp2 HG04204.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 others(7): Show a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0078 a0001c0001t0002g0079 a0001c0001t0002g0080 a0001c0001t0002g0109	10	226	0.0443	-32	c.252 others(49): Show c.252+9731_252+9762delTGCCTCCCGGTTTCAAGCAATTCCCCAG CCTC	SELENOF	ENSG00000183291.18	transcript	ENST00000331835.10	protein_coding	2/4			chr1	TogoVar
SELENOT_chr3_150598321_150635436	150632372	AATTGCCA others(25): Show AATTGCCAGGGAAACCCAATCTACTATTTTATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0023 a0001c0001t0002g0023	1	380	0.0026	-32	c.47 others(43): Show c.4744_*4775delATTGCCAGGGAAACCCAATCTACTATTTTATC	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		1937		chr3	TogoVar
SEMA3D_chr7_84990553_85192056	85168820	TGAAAGAA others(25): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01123.hp1 HG02683.hp1 others(5): Show HG00639.hp2 HG01123.hp1 HG02683.hp1 HG02738.hp2 HG02809.hp2 NA18945.hp2 NA18960.hp2 NA18994.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0003c0008 a0001c0001 a0001c0006 a0003c0008	a0001c0001t0001 a0001c0006t0029 a0003c0008t0009 a0001c0001t0001 a0001c0006t0029 a0003c0008t0009	a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0073 others(5): Show a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0073 a0001c0001t0001g0139 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0006t0029g0138 a0003c0008t0009g0085	8	266	0.0301	-32	c.-17 others(53): Show c.-172-15113_-172-15082delTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	1/18			chr7	TogoVar

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