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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
SCD5_chr4_82624539_82803796	82712262	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0204 a0001c0001t0008g0204	1	210	0.0048	-36	c.233 others(53): Show c.233-6885_233-6850delAATATATATATATATATATATATATATA TATATATA		SCD5	ENSG00000145284.12	transcript	ENST00000319540.9	protein_coding	1/4						chr4	TogoVar
SCFD1_chr14_30617319_30740850	30625605	GTATAGGT others(29): Show GTATAGGTATACCTATATAGGTATAGGTATATAGGCA	G G	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0317 a0002c0002t0001g0317	1	328	0.0031	-36	c.62- others(51): Show c.62-2533_62-2498delCATATAGGTATACCTATATAGGTATAGGTA TATAGG		SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	1/24					INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD1_chr14_30617319_30740850	30703910	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0325 a0002c0002t0001g0325	1	328	0.0031	-36	c.149 others(55): Show c.1490+1553_1490+1588delTATATATATATATATATATATATATA TATATATATA		SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	17/24					INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD1_chr14_30617319_30740850	30703928	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 NA19043.hp1 HG03516.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0014 a0001c0001t0001g0038	2	328	0.0061	-36	c.149 others(55): Show c.1490+1557_1490+1592delTATATATATATATATATATATATATA TATATAAATA		SCFD1	ENSG00000092108.22	transcript	ENST00000458591.7	protein_coding	17/24					INFO_REALIGN_3_PRIME	chr14	TogoVar
SCFD2_chr4_52867982_53371061	52875802	CTATATAT others(29): Show CTATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00735.hp2 HG01515.hp2 others(6): Show HG00140.hp2 HG00735.hp2 HG01515.hp2 HG02818.hp1 HG02970.hp2 HG03130.hp2 HG03195.hp1 HG03704.hp2 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0005 a0002c0002 a0001c0001 a0001c0005 a0002c0002	a0001c0001t0004 a0001c0005t0004 a0002c0002t0001 others(1): Show a0001c0001t0004 a0001c0005t0004 a0002c0002t0001 a0002c0002t0004	a0001c0001t0004g0009 a0001c0001t0004g0014 a0001c0001t0004g0044 others(6): Show a0001c0001t0004g0009 a0001c0001t0004g0014 a0001c0001t0004g0044 a0001c0001t0004g0049 a0001c0001t0004g0109 a0001c0005t0004g0030 a0001c0005t0004g0033 a0002c0002t0001g0094 a0002c0002t0004g0006	9	162	0.0556	-36	c.196 others(55): Show c.1963-1777_1963-1742delTATATATATATATATATATATATATA TATATATATA		SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	8/8						chr4	TogoVar
SCFD2_chr4_52867982_53371061	52952242	GCCCCATC others(29): Show GCCCCATCCCCTCTCACACCCCCATCCCCTCTCACAC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	162	0.0062	-36	c.156 others(57): Show c.1562-31408_1562-31373delGTGTGAGAGGGGATGGGGGTGTGA GAGGGGATGGGG		SCFD2	ENSG00000184178.17	transcript	ENST00000401642.8	protein_coding	5/8						chr4	TogoVar
SCG3_chr15_51676503_51726026	51709685	ATATATAT others(29): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18953.hp1 NA19074.hp1 others(1): Show NA18952.hp2 NA18953.hp1 NA19074.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0006g0223 others(1): Show a0001c0001t0006g0219 a0001c0001t0006g0220 a0001c0001t0006g0223 a0001c0001t0006g0229	4	402	0.0100	-36	c.120 others(55): Show c.1208-3646_1208-3611delATATATATATATATATTTTTTTTTTT TTTTTTTTTT		SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
SCG3_chr15_51676503_51726026	51709687	ATATATAT others(29): Show ATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0224 a0001c0001t0006g0224	1	402	0.0025	-36	c.120 others(55): Show c.1208-3644_1208-3609delATATATATATATATTTTTTTTTTTTT TTTTTTTTTT		SCG3	ENSG00000104112.9	transcript	ENST00000220478.8	protein_coding	10/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
SCGB2B2_chr19_34585644_34682159	34645525	GACACACA others(29): Show GACACACACAGACACAGACACACACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0109 a0001c0001t0109	a0001c0001t0109g0267 a0001c0001t0109g0267	1	370	0.0027	-36	c.-20 others(59): Show c.-2032+30069_-2032+30104delGTGTGTGTGTGTGTGTGTGTCT GTGTCTGTGTGTGT		SCGB2B2	ENSG00000205209.8	transcript	ENST00000601241.6	protein_coding	1/3						chr19	TogoVar
SCGN_chr6_25647215_25706783	25658003	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01081.hp2 HG01361.hp1 others(5): Show HG00642.hp2 HG01081.hp2 HG01361.hp1 HG02055.hp1 HG03139.hp1 HG03669.hp2 NA19030.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008	a0001c0001t0002g0233 a0001c0001t0003g0205 a0001c0001t0003g0206 others(4): Show a0001c0001t0002g0233 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0008g0017 a0001c0001t0008g0161 a0001c0001t0008g0162 a0001c0001t0008g0204	8	368	0.0217	-36	c.154 others(53): Show c.154-3530_154-3495delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT		SCGN	ENSG00000079689.15	transcript	ENST00000377961.3	protein_coding	2/10					INFO_REALIGN_3_PRIME	chr6	TogoVar
SCHIP1_chr3_159268244_159902359	159626126	ATAGATAG others(29): Show ATAGATAGATAGATATATCTAGATATATATATATATC	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02630.hp2 others(5): Show HG02055.hp1 HG02451.hp1 HG02630.hp2 HG02717.hp1 HG02976.hp1 HG03098.hp2 HG03139.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0001g0045 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0035 a0001c0001t0001g0045 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0090 a0001c0002t0001g0082	8	100	0.0800	-36	c.64- others(55): Show c.64-138310_64-138275delGATAGATATATCTAGATATATATATA TATCTAGATA		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SCHIP1_chr3_159268244_159902359	159704872	CTTTCTTT others(29): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02486.hp2 HG02698.hp2 others(8): Show HG01884.hp2 HG02486.hp2 HG02698.hp2 HG02723.hp1 HG02976.hp2 HG03225.hp2 HG03579.hp1 HG03654.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0002c0003t0001 a0001c0001t0001 a0001c0002t0001 a0002c0003t0001	a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0037 others(8): Show a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0037 a0001c0001t0001g0049 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0070 a0001c0001t0001g0077 a0001c0002t0001g0061 a0001c0002t0001g0086 a0002c0003t0001g0091	11	100	0.1100	-36	c.64- others(53): Show c.64-59538_64-59503delTTTATTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC		SCHIP1	ENSG00000283154.3	transcript	ENST00000638749.2	protein_coding	1/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
SCML4_chr6_107697154_107829313	107778206	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG03017.hp1 HG02145.hp1 HG03017.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0013 a0001c0001 a0004c0013	a0001c0001t0001 a0004c0013t0006 a0001c0001t0001 a0004c0013t0006	a0001c0001t0001g0170 a0004c0013t0006g0037 a0001c0001t0001g0170 a0004c0013t0006g0037	2	250	0.0080	-36	c.-59 others(53): Show c.-59-5856_-59-5821delATATATATATATATATATATTTTTTTTT TTTTTTTT		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7						chr6	TogoVar
SCML4_chr6_107697154_107829313	107778208	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00609.hp2 NA19062.hp2 HG00609.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0006 a0001c0005t0011 a0001c0001t0006 a0001c0005t0011	a0001c0001t0006g0053 a0001c0005t0011g0061 a0001c0001t0006g0053 a0001c0005t0011g0061	2	250	0.0080	-36	c.-59 others(53): Show c.-59-5858_-59-5823delATATATATATATATATATATATTTTTTT TTTTTTTT		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7						chr6	TogoVar
SCML4_chr6_107697154_107829313	107778210	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02056.hp2 HG02129.hp2 others(11): Show HG00558.hp2 HG02056.hp2 HG02129.hp2 HG02155.hp1 HG02165.hp1 NA18944.hp2 NA18945.hp2 NA18964.hp2 NA18965.hp1 NA18984.hp1 NA18988.hp2 NA19054.hp2 NA19060.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0002t0009 a0001c0003t0007 a0001c0009t0006	a0001c0001t0001g0064 a0001c0001t0003g0006 a0001c0001t0003g0012 others(11): Show a0001c0001t0001g0064 a0001c0001t0003g0006 a0001c0001t0003g0012 a0001c0001t0003g0039 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0126 a0001c0001t0006g0059 a0001c0002t0009g0067 a0001c0003t0007g0045 a0001c0009t0006g0063 a0001c0009t0006g0066	14	250	0.0560	-36	c.-59 others(53): Show c.-59-5860_-59-5825delATATATATATATATATATATATATTTTT TTTTTTTT		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7						chr6	TogoVar
SCML4_chr6_107697154_107829313	107813389	TATATATA others(29): Show TATATATATATATATATATATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0075 a0001c0001t0019g0075	1	250	0.0040	-36	c.-60 others(55): Show c.-60+10701_-60+10736delTTATATATATATATATATATATATAT ATATATATAT		SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7						chr6	TogoVar
SCN10A_chr3_38691807_38821217	38761129	TGTCCCTA others(29): Show TGTCCCTATATGATACCAAGGGTCCAACCAGACCTTG	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01106.hp2 HG01515.hp1 others(2): Show HG01069.hp1 HG01106.hp2 HG01515.hp1 HG01517.hp2 NA20752.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0113 a0001c0008t0001g0114 a0001c0008t0001g0116 others(2): Show a0001c0008t0001g0113 a0001c0008t0001g0114 a0001c0008t0001g0116 a0001c0008t0001g0280 a0001c0008t0001g0281	5	372	0.0134	-36	c.883 others(49): Show c.883+27_883+62delCAAGGTCTGGTTGGACCCTTGGTATCATATAG GGAC		SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	7/27						chr3	TogoVar
SCN2A_chr2_165234414_165397304	165291345	GTCGTTCG others(29): Show GTCGTTCGTTCCTTCCTTCCTTCCTTCCTTCCTTCCT	G G	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0200 a0001c0001t0002g0200	1	358	0.0028	-36	c.-51 others(53): Show c.-51-4425_-51-4390delGTTCGTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTC		SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26					INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN3B_chr11_123624188_123659624	123644784	AGAGAGAG others(29): Show AGAGAGAGAGAGAGAGAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 NA18983.hp2 HG00738.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0050 a0001c0001t0002 a0001c0001t0050	a0001c0001t0002g0189 a0001c0001t0050g0112 a0001c0001t0002g0189 a0001c0001t0050g0112	2	450	0.0044	-36	c.219 others(51): Show c.219+767_219+802delATATATATATATATATATATTCTCTCTCTC TCTCTC		SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding	3/6						chr11	TogoVar
SCN9A_chr2_166190185_166380944	166340540	CCCTTTCT others(29): Show CCCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00738.hp1 HG02258.hp1 others(3): Show HG00140.hp2 HG00738.hp1 HG02258.hp1 HG02809.hp1 HG03225.hp1 NA19068.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0003 a0001c0017 others(1): Show a0001c0001 a0001c0003 a0001c0017 a0004c0008	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(3): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0017t0001 a0004c0008t0006 a0004c0008t0019	a0001c0001t0001g0076 a0001c0003t0001g0285 a0001c0003t0002g0079 others(3): Show a0001c0001t0001g0076 a0001c0003t0001g0285 a0001c0003t0002g0079 a0001c0017t0001g0288 a0004c0008t0006g0077 a0004c0008t0019g0002	6	296	0.0203	-36	c.-50 others(55): Show c.-50-28770_-50-28735delAAGAAAGAAAGAAAGAAAGAAAGAAA GAAAGAAAGG		SCN9A	ENSG00000169432.19	transcript	ENST00000642356.2	protein_coding	1/26						chr2	TogoVar
SCNN1B_chr16_23297302_23386294	23343581	GAGAAAGA others(29): Show GAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01346.hp2 HG01496.hp2 others(25): Show HG00438.hp1 HG01346.hp2 HG01496.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02129.hp2 HG02135.hp1 HG02738.hp2 HG03239.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04115.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp1 NA18944.hp2 NA18948.hp2 NA18954.hp1 NA18966.hp1 NA18971.hp2 NA19000.hp2 NA19007.hp2 NA19011.hp1 NA19068.hp2 NA19070.hp2 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0001t0006 a0001c0006t0001 a0001c0001t0001 a0001c0001t0006 a0001c0006t0001	a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0024 others(25): Show a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0044 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0110 a0001c0001t0001g0118 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0165 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0006g0305 a0001c0006t0001g0025 a0001c0006t0001g0027	28	306	0.0915	-36	c.-8- others(51): Show c.-8-4977_-8-4942delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAA		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1D_chr1_1275436_1297025	1288263	CTCTGCTC others(29): Show CTCTGCTCCGTCCCCCGAGTCTCTGCTCCGTCCCGTG	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA19005.hp2 NA20905.hp1 HG03139.hp1 NA19005.hp2 NA20905.hp1	a0002 a0004 a0013 a0002 a0004 a0013	a0002c0002 a0004c0008 a0013c0042 a0002c0002 a0004c0008 a0013c0042	a0002c0002t0001 a0004c0008t0001 a0013c0042t0001 a0002c0002t0001 a0004c0008t0001 a0013c0042t0001	a0002c0002t0001g0058 a0004c0008t0001g0247 a0013c0042t0001g0129 a0002c0002t0001g0058 a0004c0008t0001g0247 a0013c0042t0001g0129	3	290	0.0103	-36	c.166 others(53): Show c.1662+240_1662+275delCCGAGTCTCTGCTCCGTCCCGTGTCTGC TCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288356	TCTGCTCC others(29): Show TCTGCTCCGTCCCGTGTCCCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01169.hp2 HG03654.hp2 others(3): Show HG01081.hp1 HG01169.hp2 HG03654.hp2 HG03942.hp1 NA20752.hp1 NA20905.hp2	a0001 a0023 a0001 a0023	a0001c0001 a0001c0020 a0023c0045 a0001c0001 a0001c0020 a0023c0045	a0001c0001t0001 a0001c0020t0001 a0023c0045t0001 a0001c0001t0001 a0001c0020t0001 a0023c0045t0001	a0001c0001t0001g0178 a0001c0001t0001g0196 a0001c0001t0001g0200 others(3): Show a0001c0001t0001g0178 a0001c0001t0001g0196 a0001c0001t0001g0200 a0001c0001t0001g0206 a0001c0020t0001g0176 a0023c0045t0001g0164	6	290	0.0207	-36	c.166 others(53): Show c.1662+373_1662+408delCCTGCTCCGTCCCGTGTCCCTGCTCCGT CCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288439	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0247 a0004c0008t0001g0247	1	290	0.0035	-36	c.166 others(53): Show c.1662+404_1662+439delGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1288484	TCTGCTCC others(29): Show TCTGCTCCGTCCCGTGTCTCTGCCCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG02622.hp2 HG02895.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0156 a0005c0011t0001g0157 a0005c0011t0001g0156 a0005c0011t0001g0157	2	290	0.0069	-36	c.166 others(53): Show c.1662+470_1662+505delCCCGTCCCGTGTCCCTGCTCCGTCCCGT GTCTCTGC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289093	CCCCGTGT others(29): Show CCCCGTGTCCCTGCTCCGTCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0233 a0001c0001t0002g0233	1	290	0.0035	-36	c.166 others(55): Show c.1662+1065_1662+1100delCCTGCTCCGTCCCGTGTCCCTGCTCC GTCCCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289245	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCCCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0058 a0002c0002t0001g0058	1	290	0.0035	-36	c.166 others(54): Show c.1663-1024_1663-989delGTGTCTCTGCTCCGTCCCCCGTGTCCC TGCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289498	TCTGCTCC others(29): Show TCTGCTCCGTCCCCCGTGTCTGCTCCGTCCCGTGTCC	T T	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0002 a0002	a0002c0028 a0002c0028	a0002c0028t0001 a0002c0028t0001	a0002c0028t0001g0093 a0002c0028t0001g0093	1	290	0.0035	-36	c.166 others(53): Show c.1663-760_1663-725delCCGTGTCTGCTCCGTCCCGTGTCCCTGC TCCGTCCC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1289653	CCGTGTCC others(29): Show CCGTGTCCCTGCTCCGTCCCCCGAGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG03195.hp2 NA18960.hp2 HG00738.hp1 HG03195.hp2 NA18960.hp2	a0002 a0006 a0008 a0002 a0006 a0008	a0002c0002 a0006c0010 a0008c0007 a0002c0002 a0006c0010 a0008c0007	a0002c0002t0001 a0006c0010t0007 a0008c0007t0004 a0002c0002t0001 a0006c0010t0007 a0008c0007t0004	a0002c0002t0001g0025 a0006c0010t0007g0270 a0008c0007t0004g0287 a0002c0002t0001g0025 a0006c0010t0007g0270 a0008c0007t0004g0287	3	290	0.0103	-36	c.166 others(53): Show c.1663-616_1663-581delGTGTCCCTGCTCCGTCCCCCGAGTCTCT GCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290110	CCGTGTCT others(29): Show CCGTGTCTCTGCTCCGTCCCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02895.hp1 HG02622.hp2 HG02895.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0156 a0005c0011t0001g0157 a0005c0011t0001g0156 a0005c0011t0001g0157	2	290	0.0069	-36	c.166 others(53): Show c.1663-159_1663-124delGTGTCTCTGCTCCGTCCCCCGTGTCTCT GCTCCGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCNN1D_chr1_1275436_1297025	1290128	CCCCGTGT others(29): Show CCCCGTGTCTCTGCTCCGTCCCGTGTCTCTGCTCCGT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0012 a0012	a0012c0022 a0012c0022	a0012c0022t0006 a0012c0022t0006	a0012c0022t0006g0132 a0012c0022t0006g0132	1	290	0.0035	-36	c.166 others(52): Show c.1663-134_1663-99delTCTGCTCCGTCCCGTGTCTCTGCTCCGTC CCGTGTC		SCNN1D	ENSG00000162572.21	transcript	ENST00000379116.10	protein_coding	12/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SCOC_chr4_140368646_140390728	140389153	TTCAGGTC others(29): Show TTCAGGTCTGGCATGCTGATTTTTACAATGCCAAACA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	-36	c.80 others(47): Show c.8050_*8085delTCAGGTCTGGCATGCTGATTTTTACAATGCCAAA CA		SCOC	ENSG00000153130.18	transcript	ENST00000608372.6	protein_coding					3426		chr4	TogoVar
SCTR_chr2_119434843_119529483	119512555	CCCAGCTA others(29): Show CCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTT	C C	intron_variant intron_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0012	1	290	0.0035	-36	c.72+ others(53): Show c.72+11564_72+11599delAACCCCGTCTCTACTAAAAATACAAAAA TTAGCTGG		SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	1/12						chr2	TogoVar
SCT_chr11_621309_632181	628927	TTCTTTCT others(29): Show TTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02055.hp1 HG02145.hp1 HG02257.hp2 others(9): Show HG02055.hp1 HG02145.hp1 HG02257.hp2 HG02451.hp1 HG02622.hp1 HG02630.hp1 HG02970.hp2 HG03486.hp1 HG03579.hp1 NA18906.hp2 NA19240.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0004c0005t0001 a0001c0001t0001 a0001c0001t0002 a0004c0005t0001	a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0002g0013 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0002g0013 a0004c0005t0001g0009	12	411	0.0292	-36	c.-18 others(47): Show c.-1820_-1785delGAAAGAAAAAGAAAGAAAGAAAGAAAGAAAGAAA GA		SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding					1747		chr11	TogoVar
SCUBE3_chr6_35208956_35258079	35217025	GTCTGTGA others(29): Show GTCTGTGAGAACTGTATGGAAGAGTAGGTGGGTAAGC	G G	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0180 a0001c0001t0002g0180	1	290	0.0035	-36	c.85+ others(51): Show c.85+2523_85+2558delTCTGTGAGAACTGTATGGAAGAGTAGGTGG GTAAGC		SCUBE3	ENSG00000146197.9	transcript	ENST00000274938.8	protein_coding	1/21						chr6	TogoVar
SCYGR2_chr2_227593893_227604255	227598928	CGGTGGCC others(29): Show CGGTGGCCGCTGTGGTGGCTGCGGTGGTGGCTGTGGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00597.hp1 HG01167.hp1 HG01169.hp1 others(28): Show HG00597.hp1 HG01167.hp1 HG01169.hp1 HG01243.hp2 HG01255.hp1 HG01884.hp1 HG01981.hp2 HG02015.hp2 HG02083.hp1 HG02155.hp2 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02486.hp2 HG02630.hp1 HG02717.hp1 HG02886.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG03098.hp1 HG03516.hp1 HG06807.hp1 NA18955.hp2 NA18962.hp1 NA18973.hp1 NA18984.hp2 NA18999.hp2 NA19076.hp2 NA20300.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0000 a0004c0004t0000	a0004c0004t0000g0000 a0004c0004t0000g0000	31	469	0.0661	-36	c.43_ others(41): Show c.43_78delCGCTGTGGTGGCTGCGGTGGTGGCTGTGGTGGTGGC	p.Arg others(11): Show p.Arg15_Gly26del	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding	1/1	43/363	43/363	15/120		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCYGR2_chr2_227593893_227604255	227598938	TGTGGTGG others(29): Show TGTGGTGGCTGCGGTGGTGGCTGTGGTGGTGGCTGTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00099.hp2 HG00423.hp1 HG00438.hp2 others(90): Show HG00099.hp2 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG00741.hp2 HG01123.hp1 HG01243.hp1 HG01257.hp2 HG01433.hp1 HG01891.hp2 HG01934.hp2 HG01981.hp1 HG02004.hp1 HG02074.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02523.hp1 HG02602.hp2 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02818.hp2 HG02886.hp2 HG03041.hp2 HG03239.hp1 HG03486.hp1 HG03654.hp2 HG03688.hp2 HG04115.hp2 HG04199.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18948.hp2 NA18951.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18963.hp1 NA18965.hp2 NA18967.hp1 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18985.hp2 NA18987.hp1 NA18988.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19011.hp1 NA19054.hp1 NA19058.hp2 NA19062.hp2 NA19066.hp1 NA19067.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA20752.hp2 NA20905.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0000 a0003c0003t0000	a0003c0003t0000g0000 a0003c0003t0000g0000	93	469	0.1983	-36	c.105 others(43): Show c.105_140delTGGTGGTGGCTGTGGTGGTGGCTGCGGTGGTGGCTG	p.Gly others(11): Show p.Gly36_Cys47del	SCYGR2	ENSG00000284643.1	transcript	ENST00000641394.1	protein_coding	1/1	105/363	105/363	35/120		INFO_REALIGN_3_PRIME	chr2	TogoVar
SDC2_chr8_96488813_96616790	96576378	TGTTTTGT others(29): Show TGTTTTGTTTTTTTTTACCAGATTTGCTTTATTATTC	T T	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0117 a0001c0001t0007g0117	1	334	0.0030	-36	c.61- others(53): Show c.61-17101_61-17066delGTTTTGTTTTTTTTTACCAGATTTGCTT TATTATTC		SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4						chr8	TogoVar
SDK1_chr7_3296252_4274000	3655448	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0028 a0028	a0028c0052 a0028c0052	a0028c0052t0032 a0028c0052t0032	a0028c0052t0032g0107 a0028c0052t0032g0107	1	116	0.0086	-36	c.713 others(55): Show c.713+13364_713+13399delATATATATATATATATATATATATAT ATATATATAT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73412100	ATGTATAC others(29): Show ATGTATACGTATATATGTATACGTATATATGTGTATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00544.hp2 others(36): Show HG00099.hp2 HG00323.hp2 HG00544.hp2 HG00733.hp1 HG01081.hp1 HG01167.hp2 HG01169.hp1 HG01192.hp2 HG02109.hp2 HG02148.hp2 HG02155.hp1 HG02486.hp2 HG02647.hp1 HG02717.hp2 HG02738.hp1 HG02886.hp1 HG02886.hp2 HG02965.hp2 HG03017.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03486.hp2 HG03516.hp1 HG03688.hp2 HG03831.hp1 NA18948.hp1 NA18970.hp1 NA18990.hp1 NA19007.hp2 NA19030.hp1 NA19066.hp2 NA19074.hp1 NA19088.hp1 NA19240.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0018 a0021 a0026	a0001c0005 a0001c0008 a0001c0010 others(19): Show a0001c0005 a0001c0008 a0001c0010 a0001c0016 a0001c0018 a0001c0026 a0001c0052 a0002c0029 a0002c0105 a0003c0009 a0003c0017 a0003c0022 a0003c0088 a0003c0112 a0005c0012 a0005c0037 a0007c0050 a0008c0090 a0009c0021 a0018c0086 a0021c0074 a0026c0114	a0001c0005t0001 a0001c0008t0004 a0001c0008t0005 others(34): Show a0001c0005t0001 a0001c0008t0004 a0001c0008t0005 a0001c0008t0030 a0001c0008t0059 a0001c0008t0085 a0001c0010t0008 a0001c0016t0026 a0001c0018t0008 a0001c0026t0022 a0001c0026t0035 a0001c0052t0007 a0002c0029t0045 a0002c0105t0021 a0003c0009t0002 a0003c0009t0003 a0003c0009t0016 a0003c0009t0087 a0003c0017t0005 a0003c0017t0084 a0003c0017t0086 a0003c0022t0003 a0003c0022t0004 a0003c0088t0012 a0003c0112t0019 a0005c0012t0039 a0005c0012t0058 a0005c0012t0074 a0005c0012t0081 a0005c0037t0057 a0007c0050t0027 a0008c0090t0023 a0009c0021t0004 a0009c0021t0019 a0018c0086t0012 a0021c0074t0009 a0026c0114t0094	a0001c0005t0001g0050 a0001c0008t0004g0051 a0001c0008t0005g0134 others(36): Show a0001c0005t0001g0050 a0001c0008t0004g0051 a0001c0008t0005g0134 a0001c0008t0030g0103 a0001c0008t0059g0029 a0001c0008t0085g0142 a0001c0010t0008g0058 a0001c0016t0026g0126 a0001c0018t0008g0016 a0001c0018t0008g0156 a0001c0026t0022g0115 a0001c0026t0035g0070 a0001c0052t0007g0056 a0002c0029t0045g0081 a0002c0105t0021g0148 a0003c0009t0002g0088 a0003c0009t0002g0199 a0003c0009t0003g0083 a0003c0009t0016g0102 a0003c0009t0087g0008 a0003c0017t0005g0193 a0003c0017t0084g0149 a0003c0017t0086g0096 a0003c0022t0003g0167 a0003c0022t0004g0086 a0003c0088t0012g0174 a0003c0112t0019g0101 a0005c0012t0039g0153 a0005c0012t0058g0040 a0005c0012t0074g0185 a0005c0012t0081g0178 a0005c0037t0057g0147 a0007c0050t0027g0172 a0008c0090t0023g0071 a0009c0021t0004g0194 a0009c0021t0019g0045 a0018c0086t0012g0204 a0021c0074t0009g0111 a0026c0114t0094g0179	39	204	0.1912	-36	c.248 others(55): Show c.2484+2508_2484+2543delCATACACATATATACGTATACATATA TACGTATACA		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	18/44						chr17	TogoVar
SDK2_chr17_73329384_73649445	73457222	TCTTCCTT others(29): Show TCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02559.hp1 HG02647.hp1 others(5): Show HG02109.hp2 HG02559.hp1 HG02647.hp1 HG02886.hp1 HG02897.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1	a0001 a0004 a0005 others(1): Show a0001 a0004 a0005 a0007	a0001c0010 a0001c0018 a0001c0025 others(4): Show a0001c0010 a0001c0018 a0001c0025 a0004c0095 a0005c0012 a0005c0065 a0007c0050	a0001c0010t0008 a0001c0018t0008 a0001c0025t0016 others(5): Show a0001c0010t0008 a0001c0018t0008 a0001c0025t0016 a0004c0095t0037 a0005c0012t0039 a0005c0012t0058 a0005c0065t0013 a0007c0050t0027	a0001c0010t0008g0058 a0001c0018t0008g0016 a0001c0025t0016g0180 others(5): Show a0001c0010t0008g0058 a0001c0018t0008g0016 a0001c0025t0016g0180 a0004c0095t0037g0061 a0005c0012t0039g0153 a0005c0012t0058g0040 a0005c0065t0013g0066 a0007c0050t0027g0172	8	204	0.0392	-36	c.332 others(53): Show c.332-1205_332-1170delGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAG		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	3/44						chr17	TogoVar
SEC16A_chr9_136435105_136488040	136448674	GGGGAGCA others(29): Show GGGGAGCAGATCCAGAGACACCAGGAGAATGGAGGTC	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02572.hp1 HG02886.hp2 others(4): Show HG01261.hp2 HG02572.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG03516.hp2 NA18906.hp1	a0004 a0004	a0004c0008 a0004c0028 a0004c0008 a0004c0028	a0004c0008t0005 a0004c0028t0005 a0004c0008t0005 a0004c0028t0005	a0004c0008t0005g0032 a0004c0008t0005g0033 a0004c0008t0005g0036 others(4): Show a0004c0008t0005g0032 a0004c0008t0005g0033 a0004c0008t0005g0036 a0004c0008t0005g0037 a0004c0008t0005g0038 a0004c0008t0005g0039 a0004c0028t0005g0035	7	306	0.0229	-36	c.631 others(53): Show c.6313-549_6313-514delGACCTCCATTCTCCTGGTGTCTCTGGAT CTGCTCCC		SEC16A	ENSG00000148396.19	transcript	ENST00000684901.1	protein_coding	23/31						chr9	TogoVar
SEC23A_chr14_39026919_39108235	39094389	CACACACA others(29): Show CACACACACATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0301 a0001c0006t0001g0301	1	366	0.0027	-36	c.222 others(53): Show c.222-1181_222-1146delATATATATATATATATATATATATATAT GTGTGTGT		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19						chr14	TogoVar
SEC31A_chr4_82813509_82896153	82865536	GTATATAT others(29): Show GTATATATATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	328	0.0031	-36	c.119 others(53): Show c.1198-974_1198-939delTATATATATATATATATATATATATATA TATATATA		SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	10/26						chr4	TogoVar
SEL1L3_chr4_25742433_25867988	25790632	AAGGAAGG others(29): Show AAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG04115.hp1 HG03486.hp2 HG04115.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0038 a0001c0001 a0008c0038	a0001c0001t0002 a0008c0038t0012 a0001c0001t0002 a0008c0038t0012	a0001c0001t0002g0250 a0008c0038t0012g0305 a0001c0001t0002g0250 a0008c0038t0012g0305	2	312	0.0064	-36	c.195 others(51): Show c.1957-94_1957-59delCCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCT		SEL1L3	ENSG00000091490.11	transcript	ENST00000399878.8	protein_coding	11/23						chr4	TogoVar
SELENOP_chr5_42794880_42816892	42803727	AGTGCCTT others(29): Show AGTGCCTTTTTTATTTAAAAAAGATTTAAATATAGTT	A A	intron_variant intron_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0078 a0001c0001t0005g0078	1	396	0.0025	-36	c.534 others(51): Show c.534+893_534+928delAACTATATTTAAATCTTTTTTAAATAAAAA AGGCAC		SELENOP	ENSG00000250722.6	transcript	ENST00000514985.6	protein_coding	4/4					WARNING_TRANSCRIPT_MULTIPLE_STOP_CODONS	chr5	TogoVar
SEMA3D_chr7_84990553_85192056	85168814	GAAAGATG others(29): Show GAAAGATGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02976.hp2 NA18522.hp1 HG02559.hp1 HG02976.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0041 a0001c0001t0042 a0001c0004t0002 a0001c0001t0041 a0001c0001t0042 a0001c0004t0002	a0001c0001t0041g0245 a0001c0001t0042g0246 a0001c0004t0002g0244 a0001c0001t0041g0245 a0001c0001t0042g0246 a0001c0004t0002g0244	3	266	0.0113	-36	c.-17 others(57): Show c.-172-15111_-172-15076delTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCATCTTT		SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	1/18						chr7	TogoVar
SEMA3D_chr7_84990553_85192056	85168820	TGAAAGAA others(29): Show TGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	T T	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	266	0.0038	-36	c.-17 others(57): Show c.-172-15117_-172-15082delTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTC		SEMA3D	ENSG00000153993.14	transcript	ENST00000284136.11	protein_coding	1/18						chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9384583	GATAGATA others(29): Show GATAGATAGATAGATAGATAGATAGATAGATAGATAC	G G	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0102 a0001c0003t0002g0102	1	134	0.0075	-36	c.-77 others(53): Show c.-77-4596_-77-4561delGTATCTATCTATCTATCTATCTATCTAT CTATCTAT		SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22						chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9408000	CACCATCA others(29): Show CACCATCACTACCAACACCACAACTACCACCATCATT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG03516.hp1 HG00639.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0068 a0001c0001t0028 a0001c0001t0068	a0001c0001t0028g0006 a0001c0001t0068g0129 a0001c0001t0028g0006 a0001c0001t0068g0129	2	134	0.0149	-36	c.-77 others(55): Show c.-77-28013_-77-27978delAATGATGGTGGTAGTTGTGGTGTTGG TAGTGATGGT		SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22						chr5	TogoVar

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