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
SCAPER_chr15_76342904_76910340	76729267	TATACACA others(19): Show TATACACACACACACATATATATACAC	T T	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	312	0.0032	-26	c.202 others(43): Show c.2023-556_2023-531delGTGTATATATATGTGTGTGTGTGTAT	SCAPER	ENSG00000140386.13	transcript	ENST00000563290.6	protein_coding	16/31			chr15	TogoVar
SCARA5_chr8_27864883_27997673	27865577	TTATATAT others(19): Show TTATATATATATATATATATATATATA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00642.hp1 others(12): Show HG00408.hp2 HG00438.hp1 HG00642.hp1 HG00738.hp1 HG01516.hp1 HG01517.hp2 HG02258.hp1 HG02630.hp2 HG03041.hp2 HG04199.hp2 NA18906.hp1 NA18978.hp2 NA18998.hp1 NA18999.hp2 NA19084.hp2	a0001 a0004 a0005 a0001 a0004 a0005	a0001c0002 a0001c0004 a0001c0005 others(4): Show a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0001c0009 a0004c0028 a0005c0029	a0001c0002t0009 a0001c0004t0011 a0001c0004t0016 others(7): Show a0001c0002t0009 a0001c0004t0011 a0001c0004t0016 a0001c0005t0004 a0001c0005t0038 a0001c0008t0004 a0001c0008t0027 a0001c0009t0011 a0004c0028t0004 a0005c0029t0033	a0001c0002t0009g0063 a0001c0002t0009g0106 a0001c0004t0011g0175 others(12): Show a0001c0002t0009g0063 a0001c0002t0009g0106 a0001c0004t0011g0175 a0001c0004t0016g0062 a0001c0005t0004g0169 a0001c0005t0004g0178 a0001c0005t0004g0179 a0001c0005t0038g0081 a0001c0008t0004g0180 a0001c0008t0004g0181 a0001c0008t0004g0270 a0001c0008t0027g0290 a0001c0009t0011g0119 a0004c0028t0004g0201 a0005c0029t0033g0127	15	314	0.0478	-26	c.63 others(37): Show c.6331_*6356delTATATATATATATATATATATATATA	SCARA5	ENSG00000168079.17	transcript	ENST00000354914.8	protein_coding		4305		chr8	TogoVar
SCARB1_chr12_124771856_124868864	124837568	GAAAAGAA others(19): Show GAAAAGAAAAGAAAAGAAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp2 homoSapiens_chm13v2.hp1 HG01168.hp1 HG01169.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0003 a0001c0001t0003 a0001c0002t0003	a0001c0001t0003g0148 a0001c0002t0003g0076 a0001c0002t0003g0077 a0001c0001t0003g0148 a0001c0002t0003g0076 a0001c0002t0003g0077	3	356	0.0084	-26	c.127 others(45): Show c.127-19887_127-19862delTCTTTTCTTTTCTTTTCTTTTCTTTT	SCARB1	ENSG00000073060.17	transcript	ENST00000261693.11	protein_coding	1/12			chr12	TogoVar
SCCPDH_chr1_246719409_246773137	246722502	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01981.hp1 HG02622.hp1 others(7): Show HG01884.hp1 HG01981.hp1 HG02622.hp1 HG02723.hp1 HG03130.hp1 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03688.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0002g0055 others(4): Show a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0002g0055 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0256	10	410	0.0244	-26	c.-19 others(37): Show c.-1920_-1895delATATATATATATATATATATATATAT	SCCPDH	ENSG00000143653.10	transcript	ENST00000366510.4	protein_coding		1906		chr1	TogoVar
SCFD1_chr14_30617319_30740850	30703910	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp1 HG01261.hp2 others(3): Show HG00741.hp2 HG01261.hp1 HG01261.hp2 HG01928.hp1 HG01952.hp2 HG02148.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0245 a0002c0002t0001g0262 a0002c0002t0001g0280 others(3): Show a0002c0002t0001g0245 a0002c0002t0001g0262 a0002c0002t0001g0280 a0002c0002t0001g0281 a0002c0002t0001g0290 a0002c0002t0001g0300	6	328	0.0183	-26	c.149 others(45): Show c.1490+1563_1490+1588delTATATATATATATATATATATATATA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD1_chr14_30617319_30740850	30703938	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp2 HG00735.hp1 others(23): Show HG00621.hp2 HG00639.hp2 HG00735.hp1 HG01106.hp2 HG01928.hp2 HG02257.hp1 HG02922.hp2 HG03041.hp2 NA18747.hp2 NA18953.hp1 NA18954.hp2 NA18960.hp2 NA18963.hp1 NA18965.hp2 NA18967.hp2 NA18971.hp1 NA18982.hp2 NA18984.hp1 NA19005.hp1 NA19055.hp2 NA19058.hp1 NA19063.hp2 NA19078.hp1 NA19084.hp1 NA19090.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0024 others(22): Show a0001c0001t0001g0001 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0057 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0184	26	328	0.0793	-26	c.149 others(45): Show c.1490+1567_1490+1592delTATATATATATATATATATATAAATA	SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	17/24		INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD2_chr4_52867982_53371061	52875802	CTATATAT others(19): Show CTATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02717.hp2 NA18747.hp1 HG02280.hp2 HG02717.hp2 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0001t0002 a0001c0004t0006 a0001c0001t0001 a0001c0001t0002 a0001c0004t0006	a0001c0001t0001g0011 a0001c0001t0002g0040 a0001c0004t0006g0152 a0001c0001t0001g0011 a0001c0001t0002g0040 a0001c0004t0006g0152	3	162	0.0185	-26	c.196 others(45): Show c.1963-1767_1963-1742delTATATATATATATATATATATATATA	SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	8/8			chr4	TogoVar
SCG3_chr15_51676503_51726026	51704236	CATACATA others(19): Show CATACATACATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02809.hp1 HG06807.hp1 HG01884.hp1 HG02809.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0048 a0001c0001t0008g0049 a0001c0001t0008g0050	3	402	0.0075	-26	c.120 others(45): Show c.1207+2996_1207+3021delCATACATATATATATATATATATATA	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709679	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0165 a0001c0001t0003g0165	1	402	0.0025	-26	c.120 others(45): Show c.1208-3652_1208-3627delATATATATATATATATATATATTTTT	SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11		INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB1C1_chr11_188078_199575	191836	ACCCTAAC others(19): Show ACCCTAACCCTAACCCTAACCCCTAAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG01081.hp2 HG01261.hp2 others(41): Show HG00099.hp2 HG01081.hp2 HG01261.hp2 HG01346.hp2 HG01358.hp2 HG01515.hp1 HG01517.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp2 HG02886.hp1 HG02897.hp2 HG02922.hp2 HG03490.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp2 NA18942.hp2 NA18944.hp2 NA18952.hp2 NA18953.hp1 NA18965.hp2 NA18966.hp2 NA18987.hp2 NA19000.hp2 NA19012.hp2 NA19062.hp2 NA19064.hp2 NA19070.hp1 NA19079.hp2 NA19081.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA20905.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0004 a0001c0005t0001g0010 a0001c0005t0001g0004 a0001c0005t0001g0010	44	354	0.1243	-26	c.-12 others(37): Show c.-1263_-1238delCCCTAACCCTAACCCTAACCCCTAAC	SCGB1C1	ENSG00000188076.3	transcript	ENST00000342878.3	protein_coding		1241		chr11	TogoVar
SCGB1C2_chr17_132569_144067	141280	AGGGGGGC others(19): Show AGGGGGGCCTTGGTGAGGGGACATGGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(106): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00741.hp1 HG01070.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01243.hp1 HG01256.hp2 HG01261.hp2 HG01358.hp2 HG01361.hp2 HG01515.hp2 HG01516.hp1 HG01891.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02055.hp2 HG02074.hp1 HG02129.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02293.hp2 HG02486.hp1 HG02615.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp1 HG03471.hp1 HG03471.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp1 HG03704.hp1 HG03704.hp2 HG03927.hp2 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18906.hp1 NA18942.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18952.hp1 NA18954.hp1 NA18955.hp2 NA18962.hp1 NA18965.hp2 NA18969.hp2 NA18974.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18991.hp2 NA18993.hp2 NA18998.hp2 NA18999.hp2 NA19004.hp2 NA19012.hp2 NA19056.hp2 NA19066.hp2 NA19067.hp1 NA19068.hp1 NA19081.hp1 NA19086.hp1 NA19089.hp2 NA19090.hp2 NA20300.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0022 a0001c0001t0003g0005	109	402	0.2711	-26	c.23 others(37): Show c.2339_*2364delGGGGGGCCTTGGTGAGGGGACATGGG	SCGB1C2	ENSG00000268320.4	transcript	ENST00000595228.4	protein_coding		2214		chr17	TogoVar
SCGN_chr6_25647215_25706783	25658002	CCTTTTTT others(19): Show CCTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02300.hp2 HG03130.hp1 others(8): Show HG02074.hp1 HG02300.hp2 HG03130.hp1 HG03831.hp1 NA18948.hp2 NA18963.hp2 NA18964.hp2 NA18986.hp2 NA19003.hp2 NA19009.hp1 NA19011.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0004 a0004c0005 a0001c0001 a0001c0004 a0004c0005	a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0004t0004 a0004c0005t0004	a0001c0001t0004g0258 a0001c0001t0004g0283 a0001c0001t0004g0284 others(8): Show a0001c0001t0004g0258 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0290 a0001c0001t0005g0286 a0001c0001t0005g0292 a0001c0001t0005g0325 a0001c0001t0006g0266 a0001c0001t0006g0285 a0001c0004t0004g0291 a0004c0005t0004g0293	11	368	0.0299	-26	c.154 others(43): Show c.154-3549_154-3524delCTTTTTTTTTTTTTTTTTTTTTTTTT	SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10			chr6	TogoVar
SCHIP1_chr3_159268244_159902359	159750257	GTGTGTGT others(19): Show GTGTGTGTATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02897.hp1 HG01255.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0044 a0001c0002t0001g0022 a0001c0001t0001g0044 a0001c0002t0001g0022	2	100	0.0200	-26	c.64- others(43): Show c.64-14184_64-14159delGTGTGTATATATATATATATATATAT	SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
SCML4_chr6_107697154_107829313	107778210	AAAAAAAA others(19): Show AAAAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19090.hp1 NA19079.hp1 NA19090.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0007 a0001c0010t0007	a0001c0010t0007g0140 a0001c0010t0007g0141 a0001c0010t0007g0140 a0001c0010t0007g0141	2	250	0.0080	-26	c.-59 others(43): Show c.-59-5850_-59-5825delATATATATATATATTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107813399	TATATATA others(19): Show TATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01175.hp1 NA18988.hp2 NA19043.hp2 HG01175.hp1 NA18988.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0007 a0001c0001t0006 a0001c0003t0007	a0001c0001t0006g0046 a0001c0003t0007g0045 a0001c0003t0007g0047 a0001c0001t0006g0046 a0001c0003t0007g0045 a0001c0003t0007g0047	3	250	0.0120	-26	c.-60 others(45): Show c.-60+10701_-60+10726delTTATATATATATATATATATATATAT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38719367	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0015 a0015	a0015c0046 a0015c0046	a0015c0046t0001 a0015c0046t0001	a0015c0046t0001g0046 a0015c0046t0001g0046	1	372	0.0027	-26	c.350 others(43): Show c.3508-567_3508-542delAAAAAAAAAAAAAAAAAAAAAAAAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	20/27			chr3	TogoVar
SCN3B_chr11_123624188_123659624	123644788	AGAGAGAG others(19): Show AGAGAGAGAGAGAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00733.hp2 HG01070.hp2 others(26): Show HG00673.hp2 HG00733.hp2 HG01070.hp2 HG01175.hp1 HG01261.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02486.hp2 HG02602.hp1 HG02717.hp2 HG02723.hp2 HG03471.hp1 HG04228.hp1 NA18612.hp1 NA18948.hp1 NA18952.hp1 NA18954.hp2 NA18957.hp2 NA18964.hp1 NA18979.hp2 NA18983.hp1 NA18986.hp2 NA18993.hp2 NA18994.hp1 NA19011.hp2 NA19056.hp2 NA19074.hp1 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0010 a0001c0001t0017 a0001c0001t0019 a0001c0001t0036 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0049 a0001c0003t0005 a0001c0003t0058	a0001c0001t0001g0030 a0001c0001t0001g0132 a0001c0001t0003g0076 others(24): Show a0001c0001t0001g0030 a0001c0001t0001g0132 a0001c0001t0003g0076 a0001c0001t0003g0081 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0100 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0107 a0001c0001t0004g0115 a0001c0001t0005g0280 a0001c0001t0010g0110 a0001c0001t0017g0083 a0001c0001t0017g0101 a0001c0001t0017g0103 a0001c0001t0019g0024 a0001c0001t0019g0073 a0001c0001t0036g0062 a0001c0001t0040g0109 a0001c0001t0042g0097 a0001c0001t0043g0072 a0001c0001t0044g0105 a0001c0001t0045g0096 a0001c0001t0049g0084 a0001c0003t0005g0338 a0001c0003t0058g0337	29	450	0.0644	-26	c.219 others(41): Show c.219+773_219+798delATATATATATATATTCTCTCTCTCTC	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding	3/6			chr11	TogoVar
SCN3B_chr11_123624188_123659624	123644794	AGAGAGAA others(19): Show AGAGAGAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00438.hp2 HG00558.hp2 others(52): Show HG00323.hp2 HG00438.hp2 HG00558.hp2 HG00735.hp2 HG01074.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp1 HG01175.hp2 HG01243.hp2 HG01346.hp2 HG01891.hp2 HG01952.hp1 HG01978.hp2 HG02015.hp2 HG02280.hp1 HG02300.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02896.hp1 HG02897.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG06807.hp2 NA18747.hp1 NA18951.hp1 NA18961.hp1 NA18981.hp2 NA18999.hp1 NA19003.hp2 NA19030.hp1 NA19062.hp2 NA19066.hp1 NA19070.hp1 NA19240.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0027 a0001c0001t0028 a0001c0001t0038 a0001c0001t0041 a0001c0001t0046 a0001c0001t0056 a0001c0001t0069 a0001c0001t0071 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0032 others(40): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0139 a0001c0001t0001g0146 a0001c0001t0001g0191 a0001c0001t0001g0194 a0001c0001t0001g0201 a0001c0001t0001g0221 a0001c0001t0001g0343 a0001c0001t0002g0040 a0001c0001t0004g0012 a0001c0001t0004g0031 a0001c0001t0004g0134 a0001c0001t0004g0193 a0001c0001t0005g0142 a0001c0001t0006g0014 a0001c0001t0006g0199 a0001c0001t0006g0200 a0001c0001t0006g0271 a0001c0001t0006g0272 a0001c0001t0006g0273 a0001c0001t0006g0332 a0001c0001t0010g0078 a0001c0001t0013g0178 a0001c0001t0013g0190 a0001c0001t0018g0079 a0001c0001t0021g0059 a0001c0001t0021g0301 a0001c0001t0027g0145 a0001c0001t0027g0196 a0001c0001t0028g0192 a0001c0001t0038g0070 a0001c0001t0041g0093 a0001c0001t0046g0063 a0001c0001t0056g0331 a0001c0001t0069g0177 a0001c0001t0071g0222 a0001c0001t0074g0349 a0001c0001t0075g0348 a0001c0001t0076g0351 a0001c0001t0077g0350 a0001c0001t0078g0352	55	450	0.1222	-26	c.219 others(41): Show c.219+767_219+792delATATATATATATATATATATTCTCTC	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding	3/6			chr11	TogoVar
SCN5A_chr3_38543062_38654687	38555081	ATATATAT others(19): Show ATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0038 a0001c0038	a0001c0038t0016 a0001c0038t0016	a0001c0038t0016g0118 a0001c0038t0016g0118	1	340	0.0029	-26	c.454 others(43): Show c.4542+549_4543-533delAATATATATATATATATATATATATA	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166414263	TACACACA others(19): Show TACACACACATATATATATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01175.hp1 HG01361.hp2 others(50): Show HG00733.hp2 HG01175.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG02056.hp2 HG02083.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02523.hp1 HG02622.hp2 HG02717.hp2 HG02735.hp2 HG02895.hp1 HG02970.hp1 HG02976.hp1 HG03471.hp2 HG03516.hp2 HG03831.hp1 NA18747.hp2 NA18942.hp1 NA18945.hp1 NA18946.hp2 NA18951.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp2 NA18963.hp2 NA18971.hp2 NA18973.hp1 NA18985.hp1 NA18986.hp1 NA18987.hp1 NA18993.hp2 NA19005.hp2 NA19007.hp1 NA19010.hp1 NA19056.hp1 NA19056.hp2 NA19063.hp2 NA19064.hp2 NA19065.hp2 NA19072.hp2 NA19078.hp1 NA19079.hp1 NA19080.hp2 NA19082.hp1 NA19084.hp2 NA20129.hp2	a0001 a0003 a0005 others(3): Show a0001 a0003 a0005 a0008 a0009 a0015	a0001c0001 a0003c0003 a0005c0005 others(3): Show a0001c0001 a0003c0003 a0005c0005 a0008c0008 a0009c0011 a0015c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0020 a0001c0001t0032 a0001c0001t0033 a0003c0003t0001 a0005c0005t0030 a0005c0005t0031 a0008c0008t0001 a0008c0008t0022 a0008c0008t0023 a0008c0008t0025 a0009c0011t0001 a0009c0011t0004 a0015c0018t0001	a0001c0001t0001g0056 a0001c0001t0001g0086 a0001c0001t0001g0087 others(49): Show a0001c0001t0001g0056 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0130 a0001c0001t0001g0223 a0001c0001t0001g0300 a0001c0001t0001g0362 a0001c0001t0003g0345 a0001c0001t0004g0109 a0001c0001t0004g0128 a0001c0001t0020g0370 a0001c0001t0032g0221 a0001c0001t0033g0220 a0003c0003t0001g0216 a0003c0003t0001g0272 a0005c0005t0030g0040 a0005c0005t0031g0041 a0008c0008t0001g0007 a0008c0008t0001g0084 a0008c0008t0001g0085 a0008c0008t0001g0094 a0008c0008t0001g0106 a0008c0008t0022g0129 a0008c0008t0023g0093 a0008c0008t0025g0116 a0009c0011t0001g0081 a0009c0011t0001g0101 a0009c0011t0001g0104 a0009c0011t0001g0105 a0009c0011t0001g0110 a0009c0011t0001g0118 a0009c0011t0004g0102 a0009c0011t0004g0103 a0015c0018t0001g0095 a0015c0018t0001g0108	53	394	0.1345	-26	c.341 others(45): Show c.3415-1168_3415-1143delGTGTATATATATATATATGTGTGTGT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN9A_chr2_166190185_166380944	166191675	ATATATAC others(19): Show ATATATACACACACATATATATATATG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02572.hp1 HG02647.hp1 others(2): Show HG00323.hp2 HG02572.hp1 HG02647.hp1 HG03579.hp1 NA20129.hp1	a0001 a0023 a0001 a0023	a0001c0002 a0001c0011 a0001c0018 others(1): Show a0001c0002 a0001c0011 a0001c0018 a0023c0046	a0001c0002t0001 a0001c0011t0018 a0001c0018t0033 others(2): Show a0001c0002t0001 a0001c0011t0018 a0001c0018t0033 a0001c0018t0034 a0023c0046t0018	a0001c0002t0001g0184 a0001c0011t0018g0021 a0001c0018t0033g0291 others(2): Show a0001c0002t0001g0184 a0001c0011t0018g0021 a0001c0018t0033g0291 a0001c0018t0034g0290 a0023c0046t0018g0019	5	296	0.0169	-26	c.69 others(37): Show c.6971_*6996delCATATATATATATGTGTGTGTATATA	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3509		chr2	TogoVar
SCN9A_chr2_166190185_166380944	166191696	TATATGTA others(19): Show TATATGTATATATATATATATACACAC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0013 a0013c0032t0013	a0013c0032t0013g0082 a0013c0032t0013g0183 a0013c0032t0013g0082 a0013c0032t0013g0183	2	296	0.0068	-26	c.69 others(37): Show c.6950_*6975delGTGTGTATATATATATATATACATAT	SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding		3488		chr2	TogoVar
SCNN1G_chr16_23177745_23221883	23204288	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18998.hp1 NA19007.hp2 others(1): Show HG02027.hp1 NA18998.hp1 NA19007.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 others(1): Show a0001c0001t0001g0052 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0108	4	320	0.0125	-26	c.107 others(45): Show c.1078-5440_1078-5415delTATATATATATATATATATATATATA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204310	TATATATA others(19): Show TATATATATATATATATATATATATAG	T T	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA19079.hp2 NA18943.hp2 NA19079.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0004 a0001c0001t0001 a0001c0002t0004	a0001c0001t0001g0062 a0001c0002t0004g0292 a0001c0001t0001g0062 a0001c0002t0004g0292	2	320	0.0063	-26	c.107 others(45): Show c.1078-5438_1078-5413delTATATATATATATATATATATATAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204312	TATATATA others(19): Show TATATATATATATATATATATATAGAG	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00621.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	320	0.0031	-26	c.107 others(45): Show c.1078-5436_1078-5411delTATATATATATATATATATATAGAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCRT2_chr20_656596_680802	674707	GTGTGTGT others(19): Show GTGTGTGTGTGTGTGTGTGTGTGTGTA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18967.hp2 NA18992.hp1 others(6): Show NA18962.hp2 NA18967.hp2 NA18992.hp1 NA19002.hp2 NA19054.hp2 NA19057.hp1 NA19060.hp1 NA19068.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0103 a0001c0001t0003g0104 others(2): Show a0001c0001t0003g0003 a0001c0001t0003g0103 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0106	9	458	0.0197	-26	c.133 others(41): Show c.133+736_133+761delTACACACACACACACACACACACACA	SCRT2	ENSG00000215397.4	transcript	ENST00000246104.7	protein_coding	1/1			chr20	TogoVar
SCTR_chr2_119434843_119529483	119444160	TATACACA others(19): Show TATACACATATGTATATATACATATGA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG03098.hp1 others(4): Show HG02109.hp1 HG02486.hp1 HG03098.hp1 HG03453.hp2 HG03516.hp2 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0105 a0001c0001t0001g0149 a0001c0001t0001g0153 others(4): Show a0001c0001t0001g0105 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0167 a0001c0001t0001g0235 a0001c0001t0004g0006 a0001c0001t0004g0090	7	290	0.0241	-26	c.114 others(45): Show c.1140+2573_1141-2562delTCATATGTATATATACATATGTGTAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444306	AATATATA others(19): Show AATATATACACATATATACGTATGAAT	A A	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0166 a0001c0001t0001g0166	1	290	0.0035	-26	c.114 others(45): Show c.1140+2427_1140+2452delATTCATACGTATATATGTGTATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444785	ACGTACGA others(19): Show ACGTACGAATATATATACACATATATT	A A	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0064 a0001c0002t0004g0064	1	290	0.0035	-26	c.114 others(45): Show c.1140+1948_1140+1973delAATATATGTGTATATATATTCGTACG	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCT_chr11_621309_632181	628929	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00438.hp2 HG00621.hp2 others(42): Show HG00140.hp2 HG00438.hp2 HG00621.hp2 HG00673.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp2 HG01081.hp2 HG01106.hp1 HG01361.hp1 HG01433.hp1 HG01496.hp2 HG01891.hp2 HG01975.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02080.hp1 HG02486.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp2 HG02886.hp2 HG03239.hp1 HG03669.hp1 HG03669.hp2 HG03710.hp1 HG03942.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18941.hp1 NA18947.hp2 NA18951.hp2 NA18970.hp2 NA18973.hp1 NA19005.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19065.hp2 NA19070.hp2 NA19084.hp2 NA19087.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0001 a0003c0006t0001 a0001c0001t0001 a0003c0006t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0003c0006t0001g0011 a0001c0001t0001g0001 a0001c0001t0001g0002 a0003c0006t0001g0011	45	411	0.1095	-26	c.-18 others(37): Show c.-1812_-1787delAAGAAAGAAAGAAAGAAAGAAAGAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1749		chr11	TogoVar
SCT_chr11_621309_632181	628963	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTTTTTCTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	411	0.0024	-26	c.-18 others(37): Show c.-1846_-1821delAAGAAAAAAAGAAAGAAAGAAAGAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1783		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43281480	CCCTCTTT others(19): Show CCCTCTTTGGCCACCCTCCTGTCACCT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02004.hp2 HG02015.hp1 others(7): Show HG00558.hp1 HG02004.hp2 HG02015.hp1 HG02074.hp2 HG02809.hp2 HG04228.hp2 NA18943.hp2 NA18966.hp2 NA19003.hp2 NA19083.hp1	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0005 a0006 a0010 a0014	a0001c0004 a0001c0013 a0002c0002 others(6): Show a0001c0004 a0001c0013 a0002c0002 a0002c0005 a0003c0001 a0005c0016 a0006c0015 a0010c0029 a0014c0049	a0001c0004t0004 a0001c0013t0004 a0002c0002t0024 others(6): Show a0001c0004t0004 a0001c0013t0004 a0002c0002t0024 a0002c0005t0048 a0003c0001t0001 a0005c0016t0002 a0006c0015t0007 a0010c0029t0007 a0014c0049t0047	a0001c0004t0004g0181 a0001c0013t0004g0099 a0002c0002t0024g0182 others(7): Show a0001c0004t0004g0181 a0001c0013t0004g0099 a0002c0002t0024g0182 a0002c0005t0048g0128 a0003c0001t0001g0202 a0003c0001t0001g0211 a0005c0016t0002g0025 a0006c0015t0007g0092 a0010c0029t0007g0095 a0014c0049t0047g0199	10	280	0.0357	-26	c.484 others(43): Show c.484+9540_484+9565delAGGTGACAGGAGGGTGGCCAAAGAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281488	GGCCACCC others(19): Show GGCCACCCTCCTGTCACCTCCTCCTCA	G G	intron_variant intron_variant	MODIFIER	HG03669.hp2 NA18944.hp1 NA18950.hp2 others(1): Show HG03669.hp2 NA18944.hp1 NA18950.hp2 NA18966.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0007 a0002c0002 a0003c0007	a0002c0002t0013 a0002c0002t0056 a0003c0007t0002 a0002c0002t0013 a0002c0002t0056 a0003c0007t0002	a0002c0002t0013g0062 a0002c0002t0056g0159 a0003c0007t0002g0065 others(1): Show a0002c0002t0013g0062 a0002c0002t0056g0159 a0003c0007t0002g0065 a0003c0007t0002g0085	4	280	0.0143	-26	c.484 others(43): Show c.484+9532_484+9557delTGAGGAGGAGGTGACAGGAGGGTGGC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43344508	GCACACAC others(19): Show GCACACACACACACACACACACACACA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0034 a0002c0002t0005g0034	1	280	0.0036	-26	c.-12 others(37): Show c.-1273_-1248delTGTGTGTGTGTGTGTGTGTGTGTGTG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		1137		chr22	TogoVar
SCYGR1_chr2_227382683_227392949	227387209	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTCTATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00438.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	1	454	0.0022	-26	c.44 others(35): Show c.448_*473delTATAGAGAGAGAGAGAGAGAGAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		473		chr2	TogoVar
SCYGR1_chr2_227382683_227392949	227387211	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTCTATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp2 NA19088.hp2 HG03654.hp2 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	2	454	0.0044	-26	c.44 others(35): Show c.446_*471delTATATAGAGAGAGAGAGAGAGAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		471		chr2	TogoVar
SCYGR1_chr2_227382683_227392949	227387213	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTCTATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG02602.hp2 HG02735.hp1 others(15): Show HG00323.hp2 HG02602.hp2 HG02735.hp1 HG02735.hp2 HG02965.hp2 HG03209.hp1 HG03688.hp1 HG04184.hp2 NA18747.hp1 NA18966.hp2 NA18975.hp1 NA18978.hp1 NA18983.hp1 NA18985.hp1 NA18999.hp1 NA19000.hp1 NA19063.hp1 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	18	454	0.0397	-26	c.44 others(35): Show c.444_*469delTATATATAGAGAGAGAGAGAGAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		469		chr2	TogoVar
SCYGR1_chr2_227382683_227392949	227387215	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTCTATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG01109.hp2 HG01261.hp1 others(22): Show HG00408.hp2 HG01109.hp2 HG01261.hp1 HG01261.hp2 HG02056.hp2 HG02083.hp2 HG02132.hp1 HG02258.hp2 HG02523.hp2 HG03225.hp2 HG03710.hp2 HG04115.hp1 HG04199.hp2 NA18939.hp2 NA18950.hp1 NA18952.hp1 NA18954.hp2 NA18970.hp1 NA18973.hp2 NA18978.hp2 NA18982.hp1 NA19011.hp2 NA19070.hp1 NA19087.hp1 NA19091.hp1	a0002 a0006 a0002 a0006	a0002c0002 a0006c0007 a0002c0002 a0006c0007	a0002c0002t0000 a0006c0007t0000 a0002c0002t0000 a0006c0007t0000	a0002c0002t0000g0000 a0006c0007t0000g0000 a0002c0002t0000g0000 a0006c0007t0000g0000	25	454	0.0551	-26	c.44 others(35): Show c.442_*467delTATATATATAGAGAGAGAGAGAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		467		chr2	TogoVar
SCYGR1_chr2_227382683_227392949	227387217	CTCTCTCT others(19): Show CTCTCTCTCTCTCTCTATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG03491.hp1 NA18940.hp1 others(12): Show HG00544.hp1 HG03491.hp1 NA18940.hp1 NA18941.hp1 NA18942.hp1 NA18950.hp2 NA18967.hp2 NA18971.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp2 NA19063.hp2 NA19074.hp2 NA19084.hp1 NA19240.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0002c0002 a0009c0010 a0001c0001 a0002c0002 a0009c0010	a0001c0001t0000 a0002c0002t0000 a0009c0010t0000 a0001c0001t0000 a0002c0002t0000 a0009c0010t0000	a0001c0001t0000g0000 a0002c0002t0000g0000 a0009c0010t0000g0000 a0001c0001t0000g0000 a0002c0002t0000g0000 a0009c0010t0000g0000	15	454	0.0330	-26	c.44 others(35): Show c.440_*465delTATATATATATAGAGAGAGAGAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		465		chr2	TogoVar
SCYGR1_chr2_227382683_227392949	227387219	CTCTCTCT others(19): Show CTCTCTCTCTCTCTATATATATATATA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 NA18969.hp1 NA19004.hp2 HG02080.hp2 NA18969.hp1 NA19004.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0000 a0002c0002t0000	a0002c0002t0000g0000 a0002c0002t0000g0000	3	454	0.0066	-26	c.43 others(35): Show c.438_*463delTATATATATATATAGAGAGAGAGAGA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		463		chr2	TogoVar
SDF4_chr1_1211931_1237001	1229060	CGCCTTCT others(19): Show CGCCTTCTCCAGACCACACGTGGCACT	C C	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00738.hp1 HG01099.hp1 others(34): Show HG00597.hp1 HG00738.hp1 HG01099.hp1 HG01106.hp1 HG01243.hp2 HG01261.hp1 HG01516.hp1 HG01517.hp2 HG01891.hp2 HG01978.hp1 HG01993.hp1 HG02280.hp1 HG02602.hp1 HG02630.hp2 HG02723.hp1 HG02886.hp1 HG02895.hp2 HG02922.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG04115.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18939.hp2 NA18944.hp1 NA19067.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0002 a0001c0008 others(2): Show a0001c0001 a0001c0002 a0001c0008 a0002c0006 a0004c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0009 a0001c0001t0012 a0001c0001t0014 a0001c0002t0001 a0001c0002t0003 a0001c0002t0019 a0001c0008t0004 a0002c0006t0007 a0004c0010t0009	a0001c0001t0001g0033 a0001c0001t0001g0095 a0001c0001t0001g0097 others(29): Show a0001c0001t0001g0033 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0219 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0102 a0001c0001t0002g0222 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0224 a0001c0001t0007g0098 a0001c0001t0007g0100 a0001c0001t0009g0101 a0001c0001t0012g0059 a0001c0001t0014g0043 a0001c0002t0001g0229 a0001c0002t0003g0060 a0001c0002t0003g0061 a0001c0002t0003g0218 a0001c0002t0003g0225 a0001c0002t0003g0227 a0001c0002t0003g0228 a0001c0002t0003g0230 a0001c0002t0019g0226 a0001c0008t0004g0223 a0002c0006t0007g0094 a0004c0010t0009g0105	37	400	0.0925	-26	c.-17 others(43): Show c.-174-140_-174-115delAGTGCCACGTGTGGTCTGGAGAAGGC	SDF4	ENSG00000078808.20	transcript	ENST00000360001.12	protein_coding	1/6			chr1	TogoVar
SDK1_chr7_3296252_4274000	3403824	CATATATA others(19): Show CATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02622.hp2 others(7): Show HG01891.hp1 HG02145.hp1 HG02622.hp2 HG02809.hp1 HG02896.hp1 HG02976.hp2 HG03098.hp2 HG03491.hp2 HG03688.hp2 NA18522.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0008 a0001c0014 others(6): Show a0001c0002 a0001c0008 a0001c0014 a0001c0049 a0001c0060 a0002c0030 a0002c0041 a0002c0043 a0003c0047	a0001c0002t0040 a0001c0008t0007 a0001c0014t0018 others(6): Show a0001c0002t0040 a0001c0008t0007 a0001c0014t0018 a0001c0049t0036 a0001c0060t0041 a0002c0030t0034 a0002c0041t0007 a0002c0043t0035 a0003c0047t0038	a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0014t0018g0060 others(7): Show a0001c0002t0040g0084 a0001c0008t0007g0067 a0001c0014t0018g0060 a0001c0014t0018g0062 a0001c0049t0036g0109 a0001c0060t0041g0080 a0002c0030t0034g0083 a0002c0041t0007g0108 a0002c0043t0035g0079 a0003c0047t0038g0082	10	116	0.0862	-26	c.298 others(47): Show c.298+101960_298+101985delTATATATATATATATATATATATA TA	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3655448	AATATATA others(19): Show AATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0013 a0013	a0013c0084 a0013c0084	a0013c0084t0045 a0013c0084t0045	a0013c0084t0045g0011 a0013c0084t0045g0011	1	116	0.0086	-26	c.713 others(45): Show c.713+13374_713+13399delATATATATATATATATATATATATAT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4012549	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0072 a0011c0022t0072	a0011c0022t0072g0007 a0011c0022t0072g0007	1	116	0.0086	-26	c.242 others(43): Show c.2420+332_2420+357delTTTTTTTTTTTTTTTTTTTTTTTTTT	SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	16/44		INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73483557	GTATATGT others(19): Show GTATATGTATATATATGTATGTGTATA	G G	intron_variant intron_variant	MODIFIER	HG00639.hp2 NA20905.hp2 HG00639.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0020 a0001c0001t0001 a0001c0006t0020	a0001c0001t0001g0192 a0001c0006t0020g0202 a0001c0001t0001g0192 a0001c0006t0020g0202	2	204	0.0098	-26	c.225 others(45): Show c.225-11365_225-11340delTATACACATACATATATATACATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73483603	GTGTATAT others(19): Show GTGTATATATATGTATATATATGTATA	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02145.hp1 HG02559.hp1 others(1): Show HG01891.hp1 HG02145.hp1 HG02559.hp1 HG02965.hp2	a0001 a0005 a0008 a0001 a0005 a0008	a0001c0026 a0001c0068 a0005c0065 others(1): Show a0001c0026 a0001c0068 a0005c0065 a0008c0069	a0001c0026t0022 a0001c0068t0007 a0005c0065t0013 others(1): Show a0001c0026t0022 a0001c0068t0007 a0005c0065t0013 a0008c0069t0102	a0001c0026t0022g0115 a0001c0068t0007g0117 a0005c0065t0013g0066 others(1): Show a0001c0026t0022g0115 a0001c0068t0007g0117 a0005c0065t0013g0066 a0008c0069t0102g0116	4	204	0.0196	-26	c.225 others(45): Show c.225-11411_225-11386delTATACATATATATACATATATATACA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73483685	ATATATAT others(19): Show ATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0006 a0006	a0006c0085 a0006c0085	a0006c0085t0095 a0006c0085t0095	a0006c0085t0095g0042 a0006c0085t0095g0042	1	204	0.0049	-26	c.225 others(45): Show c.225-11493_225-11468delAAAATATATATATATATATATATATA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73499859	CTGTGTGT others(19): Show CTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 NA21309.hp2 HG02717.hp1 NA21309.hp2	a0001 a0026 a0001 a0026	a0001c0005 a0026c0114 a0001c0005 a0026c0114	a0001c0005t0050 a0026c0114t0094 a0001c0005t0050 a0026c0114t0094	a0001c0005t0050g0032 a0026c0114t0094g0179 a0001c0005t0050g0032 a0026c0114t0094g0179	2	204	0.0098	-26	c.224 others(43): Show c.224+7553_224+7578delCACACACACACACACACACACACACA	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44			chr17	TogoVar
SDR16C5_chr8_56295005_56325175	56310096	AGAGGAGG others(19): Show AGAGGAGGAAGGAGGAGGAGAAGGAAG	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	398	0.0025	-26	c.466 others(43): Show c.466-1095_466-1070delCTTCCTTCTCCTCCTCCTTCCTCCTC	SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding	3/6			chr8	TogoVar
SEC11A_chr15_84664544_84721139	84700593	CAAAAAAA others(19): Show CAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG03041.hp1 HG03195.hp1 others(2): Show HG01346.hp2 HG03041.hp1 HG03195.hp1 HG03195.hp2 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0082 a0001c0001t0001g0105 others(2): Show a0001c0001t0001g0045 a0001c0001t0001g0082 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0161	5	320	0.0156	-26	c.52- others(41): Show c.52-8975_52-8950delTTTTTTTTTTTTTTTTTTTTTTTTTT	SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5			chr15	TogoVar

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