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
SCNN1B_chr16_23297302_23386294	23305524	AATATATA others(20): Show AATATATATATTATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	306	0.0033	-27	c.-9+ others(42): Show c.-9+3098_-9+3124delTATATATATATATATATATATATATAT		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23316578	CCATCACC others(20): Show CCATCACCATCTTCACCACCATCACCAT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01934.hp1 HG02559.hp1 others(5): Show HG00639.hp2 HG01934.hp1 HG02559.hp1 HG02622.hp2 HG02809.hp1 HG02976.hp1 HG03195.hp2 NA18522.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0004 a0003c0005 a0001c0001 a0002c0004 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0003c0005t0001	a0001c0001t0001g0299 a0001c0001t0002g0020 a0001c0001t0002g0042 others(5): Show a0001c0001t0001g0299 a0001c0001t0002g0020 a0001c0001t0002g0042 a0002c0004t0001g0040 a0002c0004t0001g0051 a0002c0004t0001g0058 a0003c0005t0001g0065 a0003c0005t0001g0066	8	306	0.0261	-27	c.-9+ others(44): Show c.-9+14152_-9+14178delTTCACCACCATCACCATCATCACCATC		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1B_chr16_23297302_23386294	23365593	GAAAGAAA others(20): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0271 a0001c0001t0001g0271	1	306	0.0033	-27	c.777 others(44): Show c.777-2252_777-2226delAGAAAGAAAGAAAGAAAAAAGAAAGAA		SCNN1B	ENSG00000168447.11	transcript	ENST00000343070.7	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr16	TogoVar
SCO2_chr22_50518568_50530598	50528979	GGGGTGGG others(20): Show GGGGTGGGGAGAACTGTGCTGGGGAGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp2 HG02280.hp2 HG03239.hp1 others(4): Show HG02165.hp2 HG02280.hp2 HG03239.hp1 HG03669.hp2 HG04184.hp1 NA19005.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0008 a0001c0001t0002g0008	7	410	0.0171	-27	c.-35 others(38): Show c.-3548_-3522delTGCTCCCCAGCACAGTTCTCCCCACCC		SCO2	ENSG00000284194.3	transcript	ENST00000395693.8	protein_coding					3382		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280699	CCACCTTC others(20): Show CCACCTTCCTCCTCGGCCACCCTCCTGT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00558.hp1 HG00639.hp1 others(94): Show HG00099.hp2 HG00558.hp1 HG00639.hp1 HG00639.hp2 HG00735.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp2 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp2 HG01975.hp2 HG02004.hp2 HG02015.hp1 HG02055.hp2 HG02071.hp2 HG02080.hp2 HG02083.hp2 HG02109.hp1 HG02155.hp1 HG02165.hp2 HG02451.hp1 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 HG03704.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18747.hp1 NA18943.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18962.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19007.hp2 NA19009.hp1 NA19030.hp1 NA19030.hp2 NA19064.hp2 NA19065.hp1 NA19079.hp1 NA19083.hp1 NA19087.hp1 NA19087.hp2 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0011 a0014 a0017 a0018	a0001c0003 a0001c0004 a0001c0006 others(28): Show a0001c0003 a0001c0004 a0001c0006 a0001c0008 a0001c0010 a0001c0013 a0001c0018 a0001c0019 a0001c0020 a0001c0024 a0001c0034 a0001c0039 a0001c0044 a0001c0053 a0002c0002 a0002c0005 a0002c0009 a0002c0014 a0002c0027 a0003c0001 a0003c0007 a0004c0011 a0005c0016 a0006c0015 a0007c0023 a0008c0017 a0009c0058 a0011c0026 a0014c0049 a0017c0061 a0018c0060	a0001c0003t0003 a0001c0003t0006 a0001c0004t0004 others(59): Show a0001c0003t0003 a0001c0003t0006 a0001c0004t0004 a0001c0004t0038 a0001c0006t0011 a0001c0006t0015 a0001c0006t0019 a0001c0006t0075 a0001c0008t0009 a0001c0008t0020 a0001c0010t0092 a0001c0013t0004 a0001c0013t0036 a0001c0018t0008 a0001c0019t0008 a0001c0020t0005 a0001c0024t0083 a0001c0024t0094 a0001c0034t0008 a0001c0039t0040 a0001c0044t0035 a0001c0053t0063 a0002c0002t0002 a0002c0002t0005 a0002c0002t0010 a0002c0002t0012 a0002c0002t0018 a0002c0002t0024 a0002c0002t0031 a0002c0002t0068 a0002c0005t0001 a0002c0005t0023 a0002c0005t0048 a0002c0005t0049 a0002c0005t0080 a0002c0009t0005 a0002c0009t0025 a0002c0009t0028 a0002c0009t0089 a0002c0014t0026 a0002c0014t0078 a0002c0027t0001 a0003c0001t0001 a0003c0001t0021 a0003c0001t0023 a0003c0001t0085 a0003c0007t0001 a0003c0007t0002 a0003c0007t0044 a0004c0011t0006 a0005c0016t0079 a0006c0015t0007 a0007c0023t0082 a0008c0017t0024 a0008c0017t0057 a0008c0017t0058 a0009c0058t0004 a0011c0026t0046 a0011c0026t0052 a0014c0049t0047 a0017c0061t0001 a0018c0060t0005	a0001c0003t0003g0090 a0001c0003t0003g0231 a0001c0003t0003g0266 others(94): Show a0001c0003t0003g0090 a0001c0003t0003g0231 a0001c0003t0003g0266 a0001c0003t0006g0133 a0001c0004t0004g0124 a0001c0004t0004g0181 a0001c0004t0004g0233 a0001c0004t0004g0252 a0001c0004t0038g0238 a0001c0006t0011g0150 a0001c0006t0011g0223 a0001c0006t0015g0005 a0001c0006t0019g0067 a0001c0006t0019g0168 a0001c0006t0075g0024 a0001c0008t0009g0248 a0001c0008t0020g0030 a0001c0010t0092g0274 a0001c0013t0004g0083 a0001c0013t0004g0099 a0001c0013t0036g0098 a0001c0018t0008g0029 a0001c0018t0008g0242 a0001c0018t0008g0257 a0001c0019t0008g0051 a0001c0019t0008g0052 a0001c0019t0008g0264 a0001c0020t0005g0022 a0001c0024t0083g0194 a0001c0024t0094g0271 a0001c0034t0008g0033 a0001c0039t0040g0134 a0001c0044t0035g0212 a0001c0053t0063g0234 a0002c0002t0002g0111 a0002c0002t0002g0153 a0002c0002t0002g0189 a0002c0002t0002g0190 a0002c0002t0002g0220 a0002c0002t0005g0042 a0002c0002t0010g0147 a0002c0002t0012g0045 a0002c0002t0012g0172 a0002c0002t0018g0011 a0002c0002t0024g0182 a0002c0002t0031g0007 a0002c0002t0068g0186 a0002c0005t0001g0185 a0002c0005t0023g0156 a0002c0005t0048g0128 a0002c0005t0049g0164 a0002c0005t0080g0056 a0002c0009t0005g0137 a0002c0009t0025g0259 a0002c0009t0028g0004 a0002c0009t0089g0269 a0002c0014t0026g0235 a0002c0014t0078g0261 a0002c0027t0001g0253 a0003c0001t0001g0082 a0003c0001t0001g0084 a0003c0001t0001g0087 a0003c0001t0001g0088 a0003c0001t0001g0093 a0003c0001t0001g0110 a0003c0001t0001g0112 a0003c0001t0001g0125 a0003c0001t0001g0135 a0003c0001t0001g0148 a0003c0001t0001g0179 a0003c0001t0001g0195 a0003c0001t0001g0196 a0003c0001t0001g0228 a0003c0001t0021g0188 a0003c0001t0023g0109 a0003c0001t0085g0267 a0003c0007t0001g0105 a0003c0007t0001g0226 a0003c0007t0002g0065 a0003c0007t0002g0229 a0003c0007t0044g0210 a0004c0011t0006g0068 a0004c0011t0006g0144 a0004c0011t0006g0169 a0004c0011t0006g0237 a0005c0016t0079g0132 a0006c0015t0007g0092 a0007c0023t0082g0073 a0008c0017t0024g0162 a0008c0017t0057g0121 a0008c0017t0058g0165 a0009c0058t0004g0263 a0011c0026t0046g0057 a0011c0026t0052g0074 a0014c0049t0047g0199 a0017c0061t0001g0039 a0018c0060t0005g0038	97	280	0.3464	-27	c.484 others(46): Show c.484+10320_484+10346delACAGGAGGGTGGCCGAGGAGGAAGGT G		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280732	TCCTCCTC others(20): Show TCCTCCTCGGCCACCCTCCTGTCACCTC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0025 a0002c0009t0025	a0002c0009t0025g0070 a0002c0009t0025g0070	1	280	0.0036	-27	c.484 others(46): Show c.484+10287_484+10313delGAGGTGACAGGAGGGTGGCCGAGGAG G		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43280739	CGGCCACC others(20): Show CGGCCACCCTCCTGTCACCTCCCTCATT	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03130.hp2 HG03471.hp2 HG02723.hp1 HG03130.hp2 HG03471.hp2	a0005 a0005	a0005c0030 a0005c0031 a0005c0030 a0005c0031	a0005c0030t0014 a0005c0031t0017 a0005c0030t0014 a0005c0031t0017	a0005c0030t0014g0239 a0005c0030t0014g0240 a0005c0031t0017g0009 a0005c0030t0014g0239 a0005c0030t0014g0240 a0005c0031t0017g0009	3	280	0.0107	-27	c.484 others(46): Show c.484+10280_484+10306delAATGAGGGAGGTGACAGGAGGGTGGC C		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281461	AGCCACCC others(20): Show AGCCACCCTCCTGTCACCTCCCTCTTTG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02055.hp1 HG00639.hp1 HG02055.hp1	a0001 a0002 a0001 a0002	a0001c0010 a0002c0005 a0001c0010 a0002c0005	a0001c0010t0033 a0002c0005t0080 a0001c0010t0033 a0002c0005t0080	a0001c0010t0033g0006 a0002c0005t0080g0056 a0001c0010t0033g0006 a0002c0005t0080g0056	2	280	0.0071	-27	c.484 others(44): Show c.484+9558_484+9584delCAAAGAGGGAGGTGACAGGAGGGTGGC		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281482	CTCTTTGG others(20): Show CTCTTTGGCCACCCTCCTGTCACCTCCT	C C	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0185 a0002c0005t0001g0185	1	280	0.0036	-27	c.484 others(44): Show c.484+9537_484+9563delAGGAGGTGACAGGAGGGTGGCCAAAGA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281518	ACCCTCCT others(20): Show ACCCTCCTGTCACCTCCCTCAGTCACCC	A A	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0150 a0001c0006t0011g0150	1	280	0.0036	-27	c.484 others(44): Show c.484+9501_484+9527delGGGTGACTGAGGGAGGTGACAGGAGGG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SCYGR8_chr2_227740894_227751220	227745953	TGGTGGTG others(20): Show TGGTGGTGGCTGCGGTGGTGGCTGCGGC	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA18994.hp2 NA18994.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0000 a0008c0009t0000	a0008c0009t0000g0000 a0008c0009t0000g0000	1	457	0.0022	-27	c.84_ others(33): Show c.84_110delCGGCGGTGGTGGCTGCGGTGGTGGCTG	p.Gly others(11): Show p.Gly29_Cys37del	SCYGR8	ENSG00000284635.2	transcript	ENST00000641981.2	protein_coding	1/1	84/327	84/327	28/108		INFO_REALIGN_3_PRIME	chr2	TogoVar
SDK1_chr7_3296252_4274000	4095253	CTCTTCCT others(20): Show CTCTTCCTCAGCTCCCCCATATCTGAGG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00639.hp1 HG00735.hp1 others(53): Show HG00408.hp2 HG00639.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01891.hp2 HG01978.hp2 HG02145.hp1 HG02145.hp2 HG02258.hp2 HG02559.hp1 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03710.hp2 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA20129.hp1 NA20752.hp2	a0001 a0002 a0004 others(18): Show a0001 a0002 a0004 a0006 a0007 a0008 a0009 a0010 a0011 a0014 a0016 a0019 a0020 a0025 a0026 a0027 a0028 a0029 a0031 a0032 a0035	a0001c0002 a0001c0007 a0001c0008 others(46): Show a0001c0002 a0001c0007 a0001c0008 a0001c0010 a0001c0011 a0001c0017 a0001c0031 a0001c0037 a0001c0049 a0001c0061 a0001c0088 a0001c0091 a0001c0092 a0001c0093 a0001c0095 a0002c0009 a0002c0012 a0002c0013 a0002c0029 a0002c0030 a0002c0042 a0002c0043 a0002c0053 a0002c0054 a0004c0055 a0004c0057 a0004c0058 a0004c0065 a0006c0044 a0007c0016 a0007c0077 a0008c0015 a0009c0079 a0010c0019 a0010c0020 a0011c0021 a0011c0022 a0014c0083 a0016c0023 a0019c0051 a0020c0089 a0025c0070 a0026c0069 a0027c0068 a0028c0052 a0029c0063 a0031c0074 a0032c0075 a0035c0018	a0001c0002t0040 a0001c0007t0021 a0001c0008t0007 others(50): Show a0001c0002t0040 a0001c0007t0021 a0001c0008t0007 a0001c0010t0002 a0001c0010t0060 a0001c0011t0008 a0001c0017t0011 a0001c0031t0001 a0001c0037t0002 a0001c0049t0036 a0001c0061t0031 a0001c0088t0009 a0001c0091t0010 a0001c0092t0048 a0001c0093t0006 a0001c0095t0029 a0002c0009t0004 a0002c0009t0056 a0002c0012t0016 a0002c0013t0015 a0002c0013t0064 a0002c0029t0005 a0002c0030t0034 a0002c0042t0002 a0002c0043t0035 a0002c0053t0067 a0002c0054t0002 a0004c0055t0055 a0004c0057t0013 a0004c0058t0012 a0004c0065t0037 a0006c0044t0001 a0007c0016t0001 a0007c0016t0003 a0007c0077t0003 a0008c0015t0017 a0009c0079t0054 a0010c0019t0074 a0010c0020t0070 a0011c0021t0073 a0011c0022t0072 a0014c0083t0044 a0016c0023t0030 a0019c0051t0062 a0020c0089t0047 a0025c0070t0026 a0026c0069t0069 a0027c0068t0014 a0028c0052t0032 a0029c0063t0007 a0031c0074t0042 a0032c0075t0008 a0035c0018t0071	a0001c0002t0040g0084 a0001c0007t0021g0110 a0001c0008t0007g0067 others(53): Show a0001c0002t0040g0084 a0001c0007t0021g0110 a0001c0008t0007g0067 a0001c0010t0002g0085 a0001c0010t0060g0017 a0001c0011t0008g0028 a0001c0017t0011g0051 a0001c0017t0011g0052 a0001c0031t0001g0018 a0001c0037t0002g0077 a0001c0049t0036g0109 a0001c0061t0031g0100 a0001c0088t0009g0048 a0001c0091t0010g0055 a0001c0092t0048g0057 a0001c0093t0006g0053 a0001c0095t0029g0050 a0002c0009t0004g0093 a0002c0009t0056g0044 a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0013t0015g0025 a0002c0013t0064g0026 a0002c0029t0005g0094 a0002c0030t0034g0083 a0002c0042t0002g0105 a0002c0043t0035g0079 a0002c0053t0067g0034 a0002c0054t0002g0101 a0004c0055t0055g0021 a0004c0057t0013g0045 a0004c0058t0012g0063 a0004c0065t0037g0065 a0006c0044t0001g0020 a0007c0016t0001g0114 a0007c0016t0003g0068 a0007c0077t0003g0099 a0008c0015t0017g0059 a0008c0015t0017g0066 a0009c0079t0054g0073 a0010c0019t0074g0009 a0010c0020t0070g0008 a0011c0021t0073g0006 a0011c0022t0072g0007 a0014c0083t0044g0004 a0016c0023t0030g0113 a0019c0051t0062g0019 a0020c0089t0047g0056 a0025c0070t0026g0112 a0026c0069t0069g0064 a0027c0068t0014g0014 a0028c0052t0032g0107 a0029c0063t0007g0106 a0031c0074t0042g0081 a0032c0075t0008g0016 a0035c0018t0071g0005	56	116	0.4828	-27	c.332 others(48): Show c.3325-15391_3325-15365delTATCTGAGGTCTTCCTCAGCTCCC CCA		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4107111	CAGGGTGG others(20): Show CAGGGTGGGGAGGGTGGGGAGGGTGGGG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02965.hp2 HG03710.hp2 HG00639.hp1 HG02965.hp2 HG03710.hp2	a0001 a0006 a0001 a0006	a0001c0010 a0001c0031 a0006c0044 a0001c0010 a0001c0031 a0006c0044	a0001c0010t0002 a0001c0031t0001 a0006c0044t0001 a0001c0010t0002 a0001c0031t0001 a0006c0044t0001	a0001c0010t0002g0085 a0001c0031t0001g0018 a0006c0044t0001g0020 a0001c0010t0002g0085 a0001c0031t0001g0018 a0006c0044t0001g0020	3	116	0.0259	-27	c.332 others(46): Show c.3325-3524_3325-3498delAGGGTGGGGAGGGTGGGGAGGGTGGG G		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	22/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4254884	ACTGTGGT others(20): Show ACTGTGGTTTTAGCTGGGCTCCCTTTGC	A A	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0071 a0001c0071	a0001c0071t0057 a0001c0071t0057	a0001c0071t0057g0031 a0001c0071t0057g0031	1	116	0.0086	-27	c.638 others(46): Show c.6381+9084_6381+9110delGGTTTTAGCTGGGCTCCCTTTGCCTG T		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	44/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDR16C5_chr8_56295005_56325175	56310175	AGGAGGAG others(20): Show AGGAGGAGGAAGGAGGAGGAGGAAGGAG	A A	intron_variant intron_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	398	0.0025	-27	c.466 others(44): Show c.466-1175_466-1149delCTCCTTCCTCCTCCTCCTTCCTCCTCC		SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding	3/6						chr8	TogoVar
SDR16C5_chr8_56295005_56325175	56316042	CTTTTGGC others(20): Show CTTTTGGCTGCAATCGCAGGTATAGGCG	C C	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	NA19086.hp2 NA19086.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0188 a0003c0004t0001g0188	1	398	0.0025	-27	c.279 others(34): Show c.279_305delCGCCTATACCTGCGATTGCAGCCAAAA	p.His others(18): Show p.His93_Lys102delinsGln	SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding	2/7	436/2536	279/930	93/309			chr8	TogoVar
SEC11A_chr15_84664544_84721139	84700593	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	320	0.0031	-27	c.52- others(42): Show c.52-8976_52-8950delTTTTTTTTTTTTTTTTTTTTTTTTTTT		SEC11A	ENSG00000140612.14	transcript	ENST00000268220.12	protein_coding	1/5						chr15	TogoVar
SEC23A_chr14_39026919_39108235	39075778	ATCAAGAA others(20): Show ATCAAGAAAAAATGAATATTTCTCCAAT	A A	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0117 a0001c0003t0001g0117	1	366	0.0027	-27	c.987 others(42): Show c.987+130_987+156delATTGGAGAAATATTCATTTTTTCTTGA		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	8/19						chr14	TogoVar
SEC24B_chr4_109428815_109545896	109477171	ACAGAGTT others(20): Show ACAGAGTTGGAAGGAGAGGTACCCAGGC	A A	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	222	0.0045	-27	c.106 others(46): Show c.1060+3987_1060+4013delAGAGTTGGAAGGAGAGGTACCCAGGC C		SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	3/23					INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC63_chr6_107862756_107963208	107960064	CCTCACTT others(20): Show CCTCACTTTTTTTCTGCACAAAGTTCAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0109 a0001c0001t0009g0109	1	332	0.0030	-27	c.-20 others(38): Show c.-2082_-2056delTTGAACTTTGTGCAGAAAAAAAGTGAG		SEC63	ENSG00000025796.14	transcript	ENST00000369002.9	protein_coding					1857		chr6	TogoVar
SECTM1_chr17_82316024_82338766	82316265	GCAGGGAG others(20): Show GCAGGGAGGGCAGAGGCTGCTGGCGGGT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp2 HG01256.hp2 HG01257.hp2 others(3): Show HG01081.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG02148.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0003 a0001c0002 a0002c0003	a0001c0002t0002 a0002c0003t0003 a0002c0003t0015 a0001c0002t0002 a0002c0003t0003 a0002c0003t0015	a0001c0002t0002g0095 a0002c0003t0003g0020 a0002c0003t0003g0116 others(1): Show a0001c0002t0002g0095 a0002c0003t0003g0020 a0002c0003t0003g0116 a0002c0003t0015g0122	6	374	0.0160	-27	c.58 others(38): Show c.5869_*5895delACCCGCCAGCAGCCTCTGCCCTCCCTG		SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding					4758		chr17	TogoVar
SEH1L_chr18_12943011_12992531	12943065	TAAATATA others(20): Show TAAATATAATCCCCTAATAAATCCCCCA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01952.hp2 HG02257.hp2 HG02451.hp2 others(14): Show HG01952.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03225.hp1 NA18522.hp2 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0001 a0001c0001t0002 a0001c0001t0006	a0001c0001t0001g0293 a0001c0001t0001g0331 a0001c0001t0001g0332 others(14): Show a0001c0001t0001g0293 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0002g0007 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0006g0335 a0001c0001t0006g0338	17	388	0.0438	-27	c.-50 others(38): Show c.-5056_-5030delAAATATAATCCCCTAATAAATCCCCCA		SEH1L	ENSG00000085415.16	transcript	ENST00000399892.7	protein_coding					4945		chr18	TogoVar
SEMA5A_chr5_9030033_9551075	9207888	GATAGATA others(20): Show GATAGATAGATACATAGATAGATAGATA	G G	intron_variant intron_variant	MODIFIER	HG01981.hp2 HG02647.hp1 HG03225.hp1 others(1): Show HG01981.hp2 HG02647.hp1 HG03225.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0019 a0001c0001t0023 a0001c0001t0067 others(1): Show a0001c0001t0019 a0001c0001t0023 a0001c0001t0067 a0001c0006t0043	a0001c0001t0019g0118 a0001c0001t0023g0017 a0001c0001t0067g0128 others(1): Show a0001c0001t0019g0118 a0001c0001t0023g0017 a0001c0001t0067g0128 a0001c0006t0043g0007	4	134	0.0299	-27	c.647 others(44): Show c.647-5675_647-5649delTATCTATCTATCTATGTATCTATCTAT		SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	8/22						chr5	TogoVar
SENP1_chr12_48037897_48111079	48056758	AATATATT others(20): Show AATATATTTAACATATTACATATTACAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00408.hp2 others(102): Show HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00597.hp1 HG00609.hp1 HG00639.hp2 HG01070.hp2 HG01074.hp2 HG01099.hp2 HG01192.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG02027.hp2 HG02055.hp1 HG02071.hp1 HG02080.hp1 HG02129.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02280.hp1 HG02280.hp2 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02683.hp2 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03041.hp2 HG03130.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03491.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03710.hp2 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18947.hp1 NA18949.hp1 NA18952.hp2 NA18953.hp2 NA18962.hp1 NA18963.hp1 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18968.hp2 NA18972.hp1 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18984.hp2 NA18985.hp1 NA18994.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19001.hp1 NA19004.hp2 NA19006.hp2 NA19009.hp1 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19057.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19066.hp2 NA19072.hp1 NA19075.hp2 NA19083.hp1 NA19084.hp1 NA19087.hp2 NA19090.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0005 a0003c0007 others(1): Show a0001c0001 a0001c0005 a0003c0007 a0005c0006	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0005t0001 a0003c0007t0007 a0005c0006t0005	a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0042 others(100): Show a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0058 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0104 a0001c0001t0001g0127 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0008 a0001c0001t0003g0161 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0200 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0203 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0238 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0242 a0001c0001t0003g0248 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0003g0252 a0001c0001t0003g0253 a0001c0001t0003g0265 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0271 a0001c0001t0003g0273 a0001c0001t0003g0274 a0001c0001t0003g0275 a0001c0001t0004g0211 a0001c0001t0004g0236 a0001c0001t0004g0259 a0001c0001t0005g0195 a0001c0001t0005g0225 a0001c0001t0005g0227 a0001c0001t0005g0229 a0001c0001t0005g0230 a0001c0001t0005g0231 a0001c0001t0005g0232 a0001c0001t0005g0233 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0270 a0001c0001t0007g0199 a0001c0001t0007g0244 a0001c0001t0007g0245 a0001c0001t0007g0247 a0001c0001t0007g0260 a0001c0001t0007g0261 a0001c0001t0007g0262 a0001c0001t0007g0263 a0001c0001t0007g0267 a0001c0001t0011g0228 a0001c0001t0011g0243 a0001c0001t0018g0053 a0001c0001t0019g0093 a0001c0001t0020g0038 a0001c0001t0021g0117 a0001c0001t0022g0132 a0001c0001t0025g0237 a0001c0005t0001g0091 a0003c0007t0007g0246 a0005c0006t0005g0226	105	394	0.2665	-27	c.140 others(46): Show c.1407+6925_1407+6951delATGTAATATGTAATATGTTAAATATA T		SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17						chr12	TogoVar
SENP3_chr17_7556919_7576969	7571882	TATATATA others(20): Show TATATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0119 a0001c0001t0119	a0001c0001t0119g0003 a0001c0001t0119g0003	1	446	0.0022	-27	c.40 others(36): Show c.401_*427delTATATATATATATATATATATATATAA		SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11				401	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571887	ATATATAT others(20): Show ATATATATATATATATATATATAAAAAT	A A	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0097 a0001c0001t0097	a0001c0001t0097g0001 a0001c0001t0097g0001	1	446	0.0022	-27	c.40 others(36): Show c.405_*431delTATATATATATATATATATATAAAAAT		SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11				405		chr17	TogoVar
SEPTIN6_chrX_119611945_119698168	119640476	TTCCCATT others(20): Show TTCCCATTAGAAATTAGAGGGAGCTTGC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00735.hp1 HG00741.hp1 others(68): Show HG00280.hp1 HG00735.hp1 HG00741.hp1 HG01109.hp1 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01496.hp1 HG01496.hp2 HG01943.hp1 HG01952.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02083.hp1 HG02135.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02717.hp1 HG02738.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp2 HG03017.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03669.hp1 HG03710.hp1 HG03831.hp2 HG03942.hp1 HG04199.hp1 HG04228.hp1 NA18747.hp1 NA18906.hp2 NA18941.hp1 NA18943.hp1 NA18955.hp1 NA18956.hp1 NA18960.hp1 NA18963.hp1 NA18973.hp2 NA18977.hp1 NA18995.hp1 NA19007.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19063.hp1 NA19067.hp1 NA19077.hp1 NA19082.hp1 NA19088.hp1 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0026 a0001c0001t0029 a0001c0001t0031 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0039 a0001c0001t0050 a0001c0001t0053 a0001c0002t0005	a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0069 others(68): Show a0001c0001t0001g0020 a0001c0001t0001g0038 a0001c0001t0001g0069 a0001c0001t0001g0110 a0001c0001t0001g0116 a0001c0001t0001g0153 a0001c0001t0001g0156 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0218 a0001c0001t0001g0225 a0001c0001t0002g0007 a0001c0001t0002g0129 a0001c0001t0002g0145 a0001c0001t0002g0175 a0001c0001t0002g0179 a0001c0001t0003g0027 a0001c0001t0003g0077 a0001c0001t0003g0103 a0001c0001t0003g0113 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0135 a0001c0001t0003g0143 a0001c0001t0003g0204 a0001c0001t0003g0228 a0001c0001t0003g0252 a0001c0001t0004g0025 a0001c0001t0004g0090 a0001c0001t0004g0157 a0001c0001t0006g0037 a0001c0001t0006g0082 a0001c0001t0006g0088 a0001c0001t0006g0139 a0001c0001t0008g0024 a0001c0001t0008g0074 a0001c0001t0008g0089 a0001c0001t0008g0094 a0001c0001t0009g0121 a0001c0001t0010g0201 a0001c0001t0013g0012 a0001c0001t0013g0015 a0001c0001t0015g0036 a0001c0001t0015g0119 a0001c0001t0015g0140 a0001c0001t0016g0035 a0001c0001t0016g0136 a0001c0001t0018g0066 a0001c0001t0019g0064 a0001c0001t0021g0106 a0001c0001t0021g0229 a0001c0001t0022g0052 a0001c0001t0022g0137 a0001c0001t0026g0233 a0001c0001t0029g0195 a0001c0001t0031g0151 a0001c0001t0035g0031 a0001c0001t0036g0046 a0001c0001t0038g0014 a0001c0001t0039g0058 a0001c0001t0050g0224 a0001c0001t0053g0138 a0001c0002t0005g0003 a0001c0002t0005g0006 a0001c0002t0005g0159 a0001c0002t0005g0166 a0001c0002t0005g0177 a0001c0002t0005g0178 a0001c0002t0005g0184 a0001c0002t0005g0216	71	252	0.2818	-27	c.787 others(42): Show c.787+189_787+215delGCAAGCTCCCTCTAATTTCTAATGGGA		SEPTIN6	ENSG00000125354.24	transcript	ENST00000394610.7	protein_coding	6/10						chrX	TogoVar
SERPINB1_chr6_2827332_2846863	2838394	GTGTTTGC others(20): Show GTGTTTGCCTTCCATATTGTTTTTGCCA	G G	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02622.hp1 HG02809.hp1 others(5): Show HG02257.hp1 HG02622.hp1 HG02809.hp1 HG03041.hp2 HG03098.hp1 HG03453.hp1 HG03486.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0046 others(1): Show a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0046 a0001c0002t0001g0078	8	478	0.0167	-27	c.306 others(42): Show c.306+128_306+154delTGGCAAAAACAATATGGAAGGCAAACA		SERPINB1	ENSG00000021355.13	transcript	ENST00000380739.6	protein_coding	3/6						chr6	TogoVar
SERPINB7_chr18_63770418_63810370	63785887	TATATATA others(20): Show TATATATATAATATACGTATATATACAC	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp2 HG00738.hp1 others(30): Show HG00597.hp2 HG00735.hp2 HG00738.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp2 HG01993.hp2 HG02083.hp1 HG02109.hp1 HG02135.hp2 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG02809.hp2 HG02965.hp2 HG02970.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03516.hp1 HG03579.hp1 HG03710.hp1 HG03834.hp1 HG04228.hp2 NA18906.hp1 NA18906.hp2 NA18967.hp1 NA18975.hp1 NA18989.hp2 NA19000.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0017 a0001c0003t0005 a0001c0003t0010 others(1): Show a0001c0001t0017 a0001c0003t0005 a0001c0003t0010 a0001c0004t0006	a0001c0001t0017g0098 a0001c0003t0005g0025 a0001c0003t0005g0026 others(28): Show a0001c0001t0017g0098 a0001c0003t0005g0025 a0001c0003t0005g0026 a0001c0003t0005g0240 a0001c0003t0005g0248 a0001c0003t0005g0249 a0001c0003t0005g0250 a0001c0003t0005g0251 a0001c0003t0005g0252 a0001c0003t0005g0253 a0001c0003t0005g0264 a0001c0003t0005g0265 a0001c0003t0005g0293 a0001c0003t0005g0295 a0001c0003t0005g0296 a0001c0003t0005g0305 a0001c0003t0005g0397 a0001c0003t0005g0398 a0001c0003t0010g0090 a0001c0004t0006g0028 a0001c0004t0006g0029 a0001c0004t0006g0381 a0001c0004t0006g0383 a0001c0004t0006g0384 a0001c0004t0006g0385 a0001c0004t0006g0386 a0001c0004t0006g0387 a0001c0004t0006g0388 a0001c0004t0006g0389 a0001c0004t0006g0390 a0001c0004t0006g0395	33	432	0.0764	-27	c.168 others(44): Show c.168+3355_168+3381delTAATATACGTATATATACACATATATA		SERPINB7	ENSG00000166396.13	transcript	ENST00000398019.7	protein_coding	2/7					INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINC1_chr1_173898800_173922327	173907984	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00673.hp2 others(35): Show HG00099.hp1 HG00438.hp1 HG00673.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01106.hp2 HG01123.hp1 HG01168.hp2 HG01192.hp2 HG01243.hp2 HG01256.hp2 HG01261.hp2 HG01516.hp1 HG01517.hp2 HG01943.hp1 HG01975.hp1 HG02129.hp1 HG02132.hp2 HG02145.hp1 HG02280.hp2 HG02572.hp2 HG02723.hp1 HG03516.hp2 HG03540.hp1 HG03688.hp1 HG04115.hp1 NA18966.hp2 NA18967.hp2 NA18973.hp2 NA18983.hp1 NA18985.hp1 NA18991.hp1 NA18995.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0023 others(17): Show a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0051 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0171	38	396	0.0960	-27	c.115 others(44): Show c.1154-497_1154-471delATTATTATTATTATTATTATTATTATT		SERPINC1	ENSG00000117601.15	transcript	ENST00000367698.4	protein_coding	5/6						chr1	TogoVar
SERPINE1_chr7_101122104_101144247	101143515	GAGAAAGA others(20): Show GAGAAAGAAAGAGAGAAAGAAAGAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp1 HG01123.hp2 HG01433.hp2 others(5): Show HG00733.hp1 HG01123.hp2 HG01433.hp2 HG02055.hp2 HG02886.hp2 HG03471.hp1 HG03579.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0015 a0001c0001t0036	a0001c0001t0001g0013 a0001c0001t0001g0171 a0001c0001t0001g0172 others(5): Show a0001c0001t0001g0013 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0195 a0001c0001t0001g0297 a0001c0001t0008g0156 a0001c0001t0015g0301 a0001c0001t0036g0296	8	436	0.0184	-27	c.60 others(38): Show c.6074_*6100delAGAAAGAAAGAGAGAAAGAAAGAAGAA		SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding					4269		chr7	TogoVar
SERPINE1_chr7_101122104_101144247	101143527	GAGAAAGA others(20): Show GAGAAAGAAAGAAGAAAGAAAGAAAGAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG01192.hp2 HG01978.hp1 others(3): Show HG00597.hp1 HG01192.hp2 HG01978.hp1 HG03239.hp1 NA18940.hp2 NA18944.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0046 a0003c0002t0002g0222 a0003c0002t0002g0266 others(3): Show a0003c0002t0002g0046 a0003c0002t0002g0222 a0003c0002t0002g0266 a0003c0002t0002g0268 a0003c0002t0002g0272 a0003c0002t0002g0275	6	436	0.0138	-27	c.60 others(38): Show c.6086_*6112delAGAAAGAAAGAAGAAAGAAAGAAAGAA		SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding					4281		chr7	TogoVar
SESTD1_chr2_179096678_179269832	179230113	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0047 a0001c0003t0047	a0001c0003t0047g0160 a0001c0003t0047g0160	1	274	0.0037	-27	c.-26 others(46): Show c.-26+34359_-26+34385delAAAAAAAAAAAAAAAAAAAAAAAAAA A		SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	1/17						chr2	TogoVar
SETD2_chr3_47011436_47169113	47044344	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG04199.hp2 NA18943.hp2 HG04199.hp2 NA18943.hp2	a0001 a0019 a0001 a0019	a0001c0002 a0019c0026 a0001c0002 a0019c0026	a0001c0002t0002 a0019c0026t0002 a0001c0002t0002 a0019c0026t0002	a0001c0002t0002g0041 a0019c0026t0002g0063 a0001c0002t0002g0041 a0019c0026t0002g0063	2	308	0.0065	-27	c.709 others(46): Show c.7099-1671_7099-1645delTTTTTTTTTTTTTTTTTTTTTTTTTT T		SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	16/20						chr3	TogoVar
SEZ6L_chr22_26164462_26388596	26318132	GGTGCCAT others(20): Show GGTGCCATCTCAGCTCACTGCAACCTCC	G G	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA19056.hp1 NA18962.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0027 a0001c0001 a0001c0027	a0001c0001t0002 a0001c0027t0005 a0001c0001t0002 a0001c0027t0005	a0001c0001t0002g0224 a0001c0027t0005g0223 a0001c0001t0002g0224 a0001c0027t0005g0223	2	240	0.0083	-27	c.201 others(46): Show c.2015+4232_2015+4258delTGCCATCTCAGCTCACTGCAACCTCC G		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	9/16					INFO_REALIGN_3_PRIME	chr22	TogoVar
SEZ6L_chr22_26164462_26388596	26387724	GTGGTGTG others(20): Show GTGGTGTGTGTGTGTGTGTGTGTGTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0012 a0001c0006t0012	a0001c0006t0012g0092 a0001c0006t0012g0092	1	240	0.0042	-27	c.74 others(38): Show c.7430_*7456delTGGTGTGTGTGTGTGTGTGTGTGTGGA		SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding					4129		chr22	TogoVar
SFRP1_chr8_41256962_41314473	41290886	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0041 a0002c0002t0041	a0002c0002t0041g0269 a0002c0002t0041g0269	1	384	0.0026	-27	c.622 others(46): Show c.622+12548_622+12574delAAAAAAAAAAAAAAAAAAAAAAAAAA A		SFRP1	ENSG00000104332.12	transcript	ENST00000220772.8	protein_coding	2/2						chr8	TogoVar
SFRP4_chr7_37900932_37921817	37905482	ATCTATCA others(20): Show ATCTATCATCTATCTATCTATCTGTCTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02486.hp2 HG02895.hp1 others(2): Show HG02451.hp2 HG02486.hp2 HG02895.hp1 HG02970.hp2 HG03579.hp1	a0002 a0002	a0002c0006 a0002c0007 a0002c0006 a0002c0007	a0002c0006t0015 a0002c0007t0013 a0002c0006t0015 a0002c0007t0013	a0002c0006t0015g0026 a0002c0007t0013g0020 a0002c0006t0015g0026 a0002c0007t0013g0020	5	472	0.0106	-27	c.19 others(38): Show c.1970_*1996delCAGACAGATAGATAGATAGATGATAGA		SFRP4	ENSG00000106483.12	transcript	ENST00000436072.7	protein_coding					449		chr7	TogoVar
SFXN1_chr5_175473560_175534742	175524120	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02922.hp1 HG03209.hp2 others(1): Show HG01109.hp2 HG02922.hp1 HG03209.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0063 a0001c0001t0005 a0001c0001t0020 a0001c0001t0063	a0001c0001t0005g0143 a0001c0001t0020g0192 a0001c0001t0020g0193 others(1): Show a0001c0001t0005g0143 a0001c0001t0020g0192 a0001c0001t0020g0193 a0001c0001t0063g0141	4	372	0.0108	-27	c.872 others(44): Show c.872+1700_872+1726delAAAAATATATATATATATATATATATA		SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524122	AAAAATAT others(20): Show AAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01168.hp1 HG01169.hp2 others(6): Show HG00735.hp1 HG01168.hp1 HG01169.hp2 HG01891.hp2 HG02258.hp1 HG02922.hp2 HG03195.hp2 HG03516.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0018 a0001c0001t0005 a0001c0001t0018	a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0091 others(6): Show a0001c0001t0005g0023 a0001c0001t0005g0024 a0001c0001t0005g0091 a0001c0001t0005g0092 a0001c0001t0005g0118 a0001c0001t0005g0133 a0001c0001t0005g0142 a0001c0001t0005g0144 a0001c0001t0018g0328	9	372	0.0242	-27	c.872 others(44): Show c.872+1702_872+1728delAAATATATATATATATATATATATATA		SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SFXN1_chr5_175473560_175534742	175524124	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03486.hp2 HG01891.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0018 a0001c0001t0005 a0001c0001t0018	a0001c0001t0005g0093 a0001c0001t0018g0326 a0001c0001t0005g0093 a0001c0001t0018g0326	2	372	0.0054	-27	c.872 others(44): Show c.872+1704_872+1730delATATATATATATATATATATATATATA		SFXN1	ENSG00000164466.13	transcript	ENST00000321442.10	protein_coding	10/10					INFO_REALIGN_3_PRIME	chr5	TogoVar
SGCB_chr4_52015706_52043299	52034331	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA19030.hp2 HG01069.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0001 a0001c0001t0009	a0001c0001t0001g0111 a0001c0001t0009g0228 a0001c0001t0001g0111 a0001c0001t0009g0228	2	368	0.0054	-27	c.34- others(40): Show c.34-718_34-692delTTTTTTTTTTTTTTTTTTTTTTTTTTT		SGCB	ENSG00000163069.13	transcript	ENST00000381431.10	protein_coding	1/5						chr4	TogoVar
SGCD_chr5_156322164_156772788	156444086	CTCTCTCT others(20): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCT	C C	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	150	0.0067	-27	c.193 others(46): Show c.193-64514_193-64488delTCTCTCTCTCTCTCTCTCTCTCTCTC T		SGCD	ENSG00000170624.14	transcript	ENST00000337851.9	protein_coding	3/8						chr5	TogoVar
SGCZ_chr8_14079845_15243431	14572750	GAACAAGC others(20): Show GAACAAGCTCCAAAAATGTAACATACTC	G G	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0062 a0001c0001t0056g0062	1	102	0.0098	-27	c.40- others(44): Show c.40-17851_40-17825delGAGTATGTTACATTTTTGGAGCTTGTT		SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7						chr8	TogoVar
SGCZ_chr8_14079845_15243431	14847126	AAAGAAGA others(20): Show AAAGAAGAAGAAGAAGAAGAAGAAGAAG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0050 a0001c0001t0050	a0001c0001t0050g0045 a0001c0001t0050g0045	1	102	0.0098	-27	c.40- others(46): Show c.40-292227_40-292201delCTTCTTCTTCTTCTTCTTCTTCTTCT T		SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7						chr8	TogoVar
SGIP1_chr1_66529153_66756139	66660119	GGAAAGAA others(20): Show GGAAAGAAAGAAAGAAAGAAAGAAGAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00609.hp1 HG03017.hp2 others(2): Show HG00099.hp1 HG00609.hp1 HG03017.hp2 HG03225.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0056 a0001c0001t0001 a0001c0001t0012 a0001c0001t0056	a0001c0001t0001g0107 a0001c0001t0001g0138 a0001c0001t0001g0283 others(2): Show a0001c0001t0001g0107 a0001c0001t0001g0138 a0001c0001t0001g0283 a0001c0001t0012g0105 a0001c0001t0056g0267	5	302	0.0166	-27	c.460 others(42): Show c.460-370_460-344delGAGAGAAAGAAAGAAAGAAAGAAAGAA		SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24					INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66736175	ATAAATAT others(20): Show ATAAATATAAATATTTATACAAATATTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00609.hp1 others(169): Show HG00099.hp1 HG00140.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp2 HG01496.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01943.hp1 HG01978.hp1 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18944.hp1 NA18945.hp2 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18956.hp1 NA18957.hp1 NA18970.hp1 NA18972.hp2 NA18978.hp2 NA18984.hp1 NA18991.hp1 NA18994.hp1 NA18994.hp2 NA19005.hp2 NA19006.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19058.hp2 NA19064.hp2 NA19074.hp2 NA19081.hp1 NA19083.hp2 NA19087.hp1 NA19088.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0006 a0007	a0001c0001 a0001c0004 a0001c0007 others(10): Show a0001c0001 a0001c0004 a0001c0007 a0001c0012 a0001c0013 a0001c0014 a0002c0002 a0002c0003 a0002c0006 a0003c0005 a0004c0009 a0006c0016 a0007c0015	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(56): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0052 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0060 a0001c0001t0062 a0001c0004t0001 a0001c0004t0025 a0001c0004t0061 a0001c0007t0004 a0001c0012t0006 a0001c0013t0004 a0001c0014t0001 a0002c0002t0001 a0002c0002t0003 a0002c0002t0004 a0002c0002t0011 a0002c0002t0022 a0002c0002t0024 a0002c0002t0026 a0002c0002t0057 a0002c0003t0004 a0002c0003t0005 a0002c0003t0025 a0002c0003t0034 a0002c0003t0051 a0002c0003t0053 a0002c0003t0054 a0002c0003t0058 a0002c0006t0002 a0002c0006t0007 a0003c0005t0005 a0003c0005t0006 a0004c0009t0001 a0006c0016t0023 a0007c0015t0001	a0001c0001t0001g0003 a0001c0001t0001g0070 a0001c0001t0001g0076 others(169): Show a0001c0001t0001g0003 a0001c0001t0001g0070 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0100 a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0132 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0152 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0203 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0004g0002 a0001c0001t0004g0019 a0001c0001t0004g0205 a0001c0001t0005g0029 a0001c0001t0005g0213 a0001c0001t0005g0217 a0001c0001t0005g0219 a0001c0001t0005g0220 a0001c0001t0005g0221 a0001c0001t0005g0222 a0001c0001t0005g0223 a0001c0001t0005g0232 a0001c0001t0005g0234 a0001c0001t0006g0043 a0001c0001t0006g0202 a0001c0001t0006g0218 a0001c0001t0006g0231 a0001c0001t0006g0251 a0001c0001t0007g0115 a0001c0001t0008g0157 a0001c0001t0008g0158 a0001c0001t0008g0159 a0001c0001t0008g0160 a0001c0001t0008g0161 a0001c0001t0008g0162 a0001c0001t0011g0165 a0001c0001t0011g0255 a0001c0001t0012g0101 a0001c0001t0012g0102 a0001c0001t0012g0104 a0001c0001t0012g0105 a0001c0001t0012g0106 a0001c0001t0014g0071 a0001c0001t0014g0131 a0001c0001t0014g0137 a0001c0001t0014g0142 a0001c0001t0015g0228 a0001c0001t0015g0229 a0001c0001t0015g0230 a0001c0001t0018g0226 a0001c0001t0018g0227 a0001c0001t0019g0021 a0001c0001t0019g0060 a0001c0001t0020g0224 a0001c0001t0020g0225 a0001c0001t0022g0184 a0001c0001t0023g0113 a0001c0001t0024g0001 a0001c0001t0026g0207 a0001c0001t0027g0090 a0001c0001t0027g0091 a0001c0001t0028g0258 a0001c0001t0028g0302 a0001c0001t0029g0020 a0001c0001t0030g0216 a0001c0001t0031g0069 a0001c0001t0032g0098 a0001c0001t0052g0201 a0001c0001t0055g0170 a0001c0001t0056g0267 a0001c0001t0059g0103 a0001c0001t0060g0167 a0001c0001t0062g0257 a0001c0004t0001g0009 a0001c0004t0001g0014 a0001c0004t0001g0058 a0001c0004t0001g0062 a0001c0004t0001g0088 a0001c0004t0001g0092 a0001c0004t0001g0093 a0001c0004t0001g0261 a0001c0004t0025g0086 a0001c0004t0061g0008 a0001c0007t0004g0114 a0001c0007t0004g0117 a0001c0007t0004g0118 a0001c0007t0004g0119 a0001c0012t0006g0215 a0001c0013t0004g0099 a0001c0014t0001g0087 a0002c0002t0001g0127 a0002c0002t0001g0252 a0002c0002t0001g0275 a0002c0002t0001g0289 a0002c0002t0003g0198 a0002c0002t0004g0108 a0002c0002t0004g0120 a0002c0002t0004g0121 a0002c0002t0004g0123 a0002c0002t0004g0124 a0002c0002t0004g0125 a0002c0002t0004g0199 a0002c0002t0004g0200 a0002c0002t0011g0250 a0002c0002t0011g0253 a0002c0002t0011g0256 a0002c0002t0022g0254 a0002c0002t0024g0122 a0002c0002t0026g0249 a0002c0002t0057g0286 a0002c0003t0004g0154 a0002c0003t0004g0155 a0002c0003t0004g0204 a0002c0003t0005g0129 a0002c0003t0005g0130 a0002c0003t0005g0136 a0002c0003t0025g0133 a0002c0003t0034g0156 a0002c0003t0051g0112 a0002c0003t0053g0144 a0002c0003t0054g0190 a0002c0003t0058g0214 a0002c0006t0002g0212 a0002c0006t0007g0208 a0002c0006t0007g0209 a0002c0006t0007g0210 a0002c0006t0007g0211 a0003c0005t0005g0175 a0003c0005t0006g0176 a0003c0005t0006g0177 a0003c0005t0006g0179 a0003c0005t0006g0180 a0003c0005t0006g0181 a0004c0009t0001g0192 a0004c0009t0001g0193 a0006c0016t0023g0097 a0007c0015t0001g0110	172	302	0.5695	-27	c.203 others(46): Show c.2031+2374_2031+2400delTTTTAAATATAAATATTTATACAAAT A		SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	21/24					INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66736400	ATATTATA others(20): Show ATATTATATGTGAATATAATATATTGCG	A A	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0151 a0002c0003t0003g0151	1	302	0.0033	-27	c.203 others(46): Show c.2032-2708_2032-2682delGAATATAATATATTGCGTATTATATG T		SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	21/24					INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66736627	GAATATAA others(20): Show GAATATAATATATTGCGTATTATATGTA	G G	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0026 a0002c0002t0026	a0002c0002t0026g0249 a0002c0002t0026g0249	1	302	0.0033	-27	c.203 others(46): Show c.2032-2701_2032-2675delATATATTGCGTATTATATGTAAATAT A		SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	21/24					INFO_REALIGN_3_PRIME	chr1	TogoVar
SGPP1_chr14_63679216_63733065	63718988	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0168	1	288	0.0035	-27	c.684 others(44): Show c.684+8246_684+8272delATATATATATATATATATATATATATA		SGPP1	ENSG00000126821.8	transcript	ENST00000247225.7	protein_coding	1/2						chr14	TogoVar

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