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
SCT_chr11_621309_632181	628953	CTTTTTCT others(23): Show CTTTTTCTTTCTTTCTTTCTTTCTTTCTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp1 NA19091.hp1 HG02129.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	411	0.0049	-30	c.-18 others(41): Show c.-1840_-1811delAAAAGAAAGAAAGAAAGAAAGAAAGAAAAA		SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding					1773		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43192566	GTATATAT others(23): Show GTATATATATGTGTATATATATATACGTATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0034 a0002c0025t0034	a0002c0025t0034g0018 a0002c0025t0034g0018	1	280	0.0036	-30	c.11 others(43): Show c.11401_*11430delTATACGTATATATATATACACATATATATA		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding					4713		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281476	ACCTCCCT others(23): Show ACCTCCCTCTTTGGCCACCCTCCTGTCACCT	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03098.hp2 HG02109.hp2 HG03098.hp2	a0001 a0002 a0001 a0002	a0001c0012 a0002c0002 a0001c0012 a0002c0002	a0001c0012t0096 a0002c0002t0095 a0001c0012t0096 a0002c0002t0095	a0001c0012t0096g0277 a0002c0002t0095g0278 a0001c0012t0096g0277 a0002c0002t0095g0278	2	280	0.0071	-30	c.484 others(47): Show c.484+9540_484+9569delAGGTGACAGGAGGGTGGCCAAAGAGGGA GG		SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21						chr22	TogoVar
SDCCAG8_chr1_243251041_243505091	243327466	ATTATAAT others(23): Show ATTATAATTTTGTAGAAATTAAAATTATAAT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG03453.hp1 HG01261.hp1 HG03453.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0159 a0002c0003t0001g0174 a0002c0003t0001g0159 a0002c0003t0001g0174	2	189	0.0106	-30	c.106 others(49): Show c.1069-3013_1069-2984delTTATAATTTTGTAGAAATTAAAATTA TAAT		SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	9/17					INFO_REALIGN_3_PRIME	chr1	TogoVar
SDHA_chr5_213320_262082	249211	TAATCTGT others(23): Show TAATCTGTGTTATTTGTATAGTCTGCAGATG	T T	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0141 a0001c0002t0001g0141	1	266	0.0038	-30	c.155 others(49): Show c.1552-1780_1552-1751delAATCTGTGTTATTTGTATAGTCTGCA GATG		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding	11/14						chr5	TogoVar
SDHA_chr5_213320_262082	260172	CCGTCAGA others(23): Show CCGTCAGAGCATTACCGTGTGAGCTCCGCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0093 a0001c0001t0003g0093	1	266	0.0038	-30	c.37 others(41): Show c.3753_*3782delCGTCAGAGCATTACCGTGTGAGCTCCGCCT		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					3091		chr5	TogoVar
SDHA_chr5_213320_262082	261235	GCATTACC others(23): Show GCATTACCGTGTGAGCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0040 a0001c0001t0002g0040	1	266	0.0038	-30	c.48 others(41): Show c.4816_*4845delCATTACCGTGTGAGCTCCGCCTCCCGTCAC		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					4154		chr5	TogoVar
SDHA_chr5_213320_262082	262036	GCATTACC others(23): Show GCATTACCGTGTGAGCTCCGCCTCCCGTCAC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 HG02056.hp1 HG04184.hp2 others(1): Show HG01433.hp1 HG02056.hp1 HG04184.hp2 NA18942.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0002 a0005c0006t0002 a0001c0001t0002 a0005c0006t0002	a0001c0001t0002g0038 a0001c0001t0002g0068 a0001c0001t0002g0084 others(1): Show a0001c0001t0002g0038 a0001c0001t0002g0068 a0001c0001t0002g0084 a0005c0006t0002g0064	4	266	0.0150	-30	c.56 others(41): Show c.5617_*5646delCATTACCGTGTGAGCTCCGCCTCCCGTCAC		SDHA	ENSG00000073578.18	transcript	ENST00000264932.11	protein_coding					4955		chr5	TogoVar
SDK1_chr7_3296252_4274000	3582030	TCTGTCTC others(23): Show TCTGTCTCAGGTAGGTCTCCCTCAGGTAGGC	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01123.hp1 HG01175.hp1 others(7): Show HG00408.hp2 HG01123.hp1 HG01175.hp1 HG01934.hp1 HG02615.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp2 HG03195.hp2 HG03225.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0008 a0009	a0001c0031 a0001c0032 a0001c0062 others(6): Show a0001c0031 a0001c0032 a0001c0062 a0001c0088 a0002c0053 a0002c0090 a0003c0001 a0008c0015 a0009c0079	a0001c0031t0001 a0001c0032t0058 a0001c0062t0053 others(6): Show a0001c0031t0001 a0001c0032t0058 a0001c0062t0053 a0001c0088t0009 a0002c0053t0067 a0002c0090t0010 a0003c0001t0066 a0008c0015t0017 a0009c0079t0054	a0001c0031t0001g0018 a0001c0032t0058g0043 a0001c0062t0053g0042 others(7): Show a0001c0031t0001g0018 a0001c0032t0058g0043 a0001c0062t0053g0042 a0001c0088t0009g0048 a0002c0053t0067g0034 a0002c0090t0010g0047 a0003c0001t0066g0041 a0008c0015t0017g0059 a0008c0015t0017g0066 a0009c0079t0054g0073	10	116	0.0862	-30	c.299 others(49): Show c.299-36912_299-36883delCCCTCAGGTAGGCCTGTCTCAGGTAG GTCT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3582424	TCTCAGGT others(23): Show TCTCAGGTAGGTCTGTCTCAGGTAGGTCTCC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0033 a0033	a0033c0078 a0033c0078	a0033c0078t0001 a0033c0078t0001	a0033c0078t0001g0074 a0033c0078t0001g0074	1	116	0.0086	-30	c.299 others(49): Show c.299-36615_299-36586delTCTGTCTCAGGTAGGTCTCCCTCAGG TAGG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	1/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3655448	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG02622.hp1 HG00738.hp2 HG02622.hp1	a0001 a0001	a0001c0007 a0001c0087 a0001c0007 a0001c0087	a0001c0007t0021 a0001c0087t0009 a0001c0007t0021 a0001c0087t0009	a0001c0007t0021g0110 a0001c0087t0009g0054 a0001c0007t0021g0110 a0001c0087t0009g0054	2	116	0.0172	-30	c.713 others(49): Show c.713+13370_713+13399delATATATATATATATATATATATATAT ATAT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3705425	GATTTTAT others(23): Show GATTTTATTTTATTTTATTTTATTTTATTTT	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0092 a0001c0092	a0001c0092t0048 a0001c0092t0048	a0001c0092t0048g0057 a0001c0092t0048g0057	1	116	0.0086	-30	c.713 others(49): Show c.713+63361_713+63390delATTTTATTTTATTTTATTTTATTTTA TTTT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3723681	TACGTGTA others(23): Show TACGTGTATATACACGTACATATACATATAC	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02615.hp2 HG02886.hp2 others(1): Show HG00639.hp2 HG02615.hp2 HG02886.hp2 HG03139.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0001c0067 a0002c0012 a0001c0007 a0001c0067 a0002c0012	a0001c0007t0003 a0001c0067t0068 a0002c0012t0016 a0001c0007t0003 a0001c0067t0068 a0002c0012t0016	a0001c0007t0003g0033 a0001c0067t0068g0001 a0002c0012t0016g0002 others(1): Show a0001c0007t0003g0033 a0001c0067t0068g0001 a0002c0012t0016g0002 a0002c0012t0016g0003	4	116	0.0345	-30	c.713 others(49): Show c.713+81655_713+81684delATATACATATACACGTGTATATACAC GTAC		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	3723855	CATATACA others(23): Show CATATACACGTGTATATACACGTACATATAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02723.hp1 NA19030.hp1 HG02717.hp2 HG02723.hp1 NA19030.hp1	a0001 a0024 a0001 a0024	a0001c0093 a0001c0095 a0024c0094 a0001c0093 a0001c0095 a0024c0094	a0001c0093t0006 a0001c0095t0029 a0024c0094t0025 a0001c0093t0006 a0001c0095t0029 a0024c0094t0025	a0001c0093t0006g0053 a0001c0095t0029g0050 a0024c0094t0025g0049 a0001c0093t0006g0053 a0001c0095t0029g0050 a0024c0094t0025g0049	3	116	0.0259	-30	c.713 others(49): Show c.713+81791_713+81820delGTATATACACGTACATATATATATAC ACGT		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	4/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK1_chr7_3296252_4274000	4043092	CCAGGTAG others(23): Show CCAGGTAGAGTGAGTGTCACAGCCAGGGGCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00738.hp1 HG00738.hp2 others(34): Show HG00408.hp2 HG00738.hp1 HG00738.hp2 HG01081.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp1 HG01243.hp1 HG01891.hp1 HG02451.hp2 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp2 HG02886.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp2 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA20300.hp2	a0001 a0002 a0009 others(12): Show a0001 a0002 a0009 a0010 a0011 a0015 a0022 a0024 a0025 a0026 a0027 a0029 a0031 a0032 a0035	a0001c0007 a0001c0011 a0001c0025 others(31): Show a0001c0007 a0001c0011 a0001c0025 a0001c0026 a0001c0027 a0001c0031 a0001c0046 a0001c0067 a0001c0071 a0001c0072 a0001c0087 a0002c0009 a0002c0012 a0002c0013 a0002c0041 a0002c0043 a0002c0053 a0002c0054 a0002c0066 a0009c0079 a0009c0082 a0010c0019 a0010c0020 a0011c0022 a0015c0085 a0022c0050 a0024c0094 a0025c0070 a0026c0069 a0027c0068 a0029c0063 a0031c0074 a0032c0075 a0035c0018	a0001c0007t0021 a0001c0011t0008 a0001c0011t0039 others(33): Show a0001c0007t0021 a0001c0011t0008 a0001c0011t0039 a0001c0025t0024 a0001c0026t0002 a0001c0027t0020 a0001c0031t0001 a0001c0046t0022 a0001c0067t0068 a0001c0071t0057 a0001c0072t0065 a0001c0087t0009 a0002c0009t0004 a0002c0009t0056 a0002c0012t0016 a0002c0013t0064 a0002c0041t0007 a0002c0043t0035 a0002c0053t0067 a0002c0054t0002 a0002c0066t0023 a0009c0079t0054 a0009c0082t0001 a0010c0019t0074 a0010c0020t0070 a0011c0022t0072 a0015c0085t0043 a0022c0050t0019 a0024c0094t0025 a0025c0070t0026 a0026c0069t0069 a0027c0068t0014 a0029c0063t0007 a0031c0074t0042 a0032c0075t0008 a0035c0018t0071	a0001c0007t0021g0110 a0001c0011t0008g0028 a0001c0011t0039g0061 others(34): Show a0001c0007t0021g0110 a0001c0011t0008g0028 a0001c0011t0039g0061 a0001c0025t0024g0088 a0001c0026t0002g0086 a0001c0027t0020g0087 a0001c0031t0001g0018 a0001c0046t0022g0091 a0001c0067t0068g0001 a0001c0071t0057g0031 a0001c0072t0065g0027 a0001c0087t0009g0054 a0002c0009t0004g0093 a0002c0009t0056g0044 a0002c0012t0016g0002 a0002c0012t0016g0003 a0002c0013t0064g0026 a0002c0041t0007g0108 a0002c0043t0035g0079 a0002c0053t0067g0034 a0002c0054t0002g0101 a0002c0066t0023g0089 a0009c0079t0054g0073 a0009c0082t0001g0076 a0010c0019t0074g0009 a0010c0020t0070g0008 a0011c0022t0072g0007 a0015c0085t0043g0010 a0022c0050t0019g0092 a0024c0094t0025g0049 a0025c0070t0026g0112 a0026c0069t0069g0064 a0027c0068t0014g0014 a0029c0063t0007g0106 a0031c0074t0042g0081 a0032c0075t0008g0016 a0035c0018t0071g0005	37	116	0.3190	-30	c.260 others(49): Show c.2603-6230_2603-6201delGGGCTCAGGTAGAGTGAGTGTCACAG CCAG		SDK1	ENSG00000146555.20	transcript	ENST00000404826.7	protein_coding	17/44					INFO_REALIGN_3_PRIME	chr7	TogoVar
SDK2_chr17_73329384_73649445	73330545	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0014 a0014	a0014c0034 a0014c0034	a0014c0034t0042 a0014c0034t0042	a0014c0034t0042g0159 a0014c0034t0042g0159	1	204	0.0049	-30	c.80 others(41): Show c.8012_*8041delCACACACACACACACACACACACACACACA		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding					3838		chr17	TogoVar
SDK2_chr17_73329384_73649445	73483613	ATGTATAT others(23): Show ATGTATATATATGTATATGTATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0091 a0004c0011t0091	a0004c0011t0091g0104 a0004c0011t0091g0104	1	204	0.0049	-30	c.225 others(49): Show c.225-11425_225-11396delCATATATATATACATATACATATATA TACA		SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	2/44						chr17	TogoVar
SDR16C5_chr8_56295005_56325175	56310167	GGAGGAGG others(23): Show GGAGGAGGAGGAGGAGGAAGGAGGAGGAGGA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	398	0.0025	-30	c.466 others(47): Show c.466-1170_466-1141delTCCTCCTCCTCCTTCCTCCTCCTCCTCC TC		SDR16C5	ENSG00000170786.13	transcript	ENST00000303749.8	protein_coding	3/6						chr8	TogoVar
SEC14L1_chr17_77135969_77222101	77180046	TTGTTATG others(23): Show TTGTTATGTTATGTTATGTTATGTTATGTTA	T T	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0336 a0001c0002t0004g0336	1	430	0.0023	-30	c.64- others(47): Show c.64-10731_64-10702delTGTTATGTTATGTTATGTTATGTTATGT TA		SEC14L1	ENSG00000129657.16	transcript	ENST00000436233.9	protein_coding	3/16					INFO_REALIGN_3_PRIME	chr17	TogoVar
SEC14L3_chr22_30454229_30477017	30455060	TATATATA others(23): Show TATATATAATATATAATATATTAAATATTTA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp1 others(163): Show HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG00733.hp2 HG01069.hp1 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01192.hp1 HG01361.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02145.hp1 HG02155.hp1 HG02165.hp1 HG02165.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02602.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03130.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp2 NA18955.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18966.hp2 NA18968.hp1 NA18970.hp1 NA18971.hp1 NA18978.hp2 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp1 NA18992.hp2 NA18997.hp2 NA19000.hp1 NA19001.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp2 NA19057.hp2 NA19058.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19067.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19086.hp2 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0007 a0003c0003 others(2): Show a0001c0001 a0001c0007 a0003c0003 a0004c0004 a0004c0014	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0012 a0001c0007t0001 a0003c0003t0001 a0004c0004t0001 a0004c0014t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 others(57): Show a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0156 a0001c0001t0001g0162 a0001c0001t0001g0166 a0001c0001t0003g0009 a0001c0001t0003g0067 a0001c0001t0003g0120 a0001c0001t0008g0046 a0001c0001t0012g0119 a0001c0007t0001g0042 a0003c0003t0001g0088 a0004c0004t0001g0085 a0004c0004t0001g0097 a0004c0014t0001g0145	166	454	0.3656	-30	c.49 others(41): Show c.4931_*4960delTAAATATTTAATATATTATATATTATATAT		SEC14L3	ENSG00000100012.12	transcript	ENST00000215812.9	protein_coding					4168		chr22	TogoVar
SEC16A_chr9_136435105_136488040	136471516	CTTTCTGT others(23): Show CTTTCTGTAGCCAGCCTGACAGGTCTAAGAA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03139.hp2 HG01884.hp2 HG03139.hp2	a0002 a0015 a0002 a0015	a0002c0003 a0015c0032 a0002c0003 a0015c0032	a0002c0003t0003 a0015c0032t0003 a0002c0003t0003 a0015c0032t0003	a0002c0003t0003g0231 a0015c0032t0003g0230 a0002c0003t0003g0231 a0015c0032t0003g0230	2	306	0.0065	-30	c.370 others(47): Show c.3704+429_3704+458delTTCTTAGACCTGTCAGGCTGGCTACAGA AA		SEC16A	ENSG00000148396.19	transcript	ENST00000684901.1	protein_coding	4/31						chr9	TogoVar
SEC23A_chr14_39026919_39108235	39094393	CACACATA others(23): Show CACACATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	366	0.0027	-30	c.222 others(47): Show c.222-1179_222-1150delATATATATATATATATATATATATATGT GT		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19						chr14	TogoVar
SEC23A_chr14_39026919_39108235	39094395	CACATATA others(23): Show CACATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0304 a0002c0002t0001g0304	1	366	0.0027	-30	c.222 others(47): Show c.222-1181_222-1152delATATATATATATATATATATATATATAT GT		SEC23A	ENSG00000100934.15	transcript	ENST00000307712.11	protein_coding	2/19						chr14	TogoVar
SEC23B_chr20_18502940_18566415	18554946	ATAGATTA others(23): Show ATAGATTACTGTGCAGTAAAACAATTCTAAT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(226): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01358.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp2 HG01952.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02083.hp2 HG02132.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19005.hp1 NA19006.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19074.hp2 NA19076.hp2 NA19080.hp1 NA19081.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0003 a0005 others(4): Show a0001 a0003 a0005 a0006 a0009 a0010 a0012	a0001c0001 a0001c0017 a0003c0003 others(5): Show a0001c0001 a0001c0017 a0003c0003 a0005c0008 a0006c0009 a0009c0016 a0010c0015 a0012c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0017t0002 a0003c0003t0002 a0005c0008t0002 a0006c0009t0004 a0009c0016t0002 a0010c0015t0001 a0012c0012t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 others(192): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0231 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0007 a0001c0001t0002g0015 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0047 a0001c0001t0002g0048 a0001c0001t0002g0049 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0060 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0128 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0132 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0142 a0001c0001t0002g0143 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0149 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0177 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0230 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0235 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0001t0002g0238 a0001c0001t0004g0029 a0001c0001t0004g0258 a0001c0017t0002g0127 a0003c0003t0002g0014 a0003c0003t0002g0016 a0003c0003t0002g0017 a0003c0003t0002g0036 a0003c0003t0002g0037 a0003c0003t0002g0038 a0003c0003t0002g0039 a0003c0003t0002g0050 a0003c0003t0002g0051 a0003c0003t0002g0052 a0003c0003t0002g0053 a0003c0003t0002g0054 a0003c0003t0002g0055 a0003c0003t0002g0056 a0003c0003t0002g0058 a0005c0008t0002g0001 a0005c0008t0002g0129 a0005c0008t0002g0176 a0006c0009t0004g0257 a0006c0009t0004g0259 a0009c0016t0002g0124 a0010c0015t0001g0241 a0012c0012t0002g0024	229	410	0.5585	-30	c.214 others(47): Show c.2149-130_2149-101delAGATTACTGTGCAGTAAAACAATTCTAA TT		SEC23B	ENSG00000101310.17	transcript	ENST00000650089.1	protein_coding	18/19					INFO_REALIGN_3_PRIME	chr20	TogoVar
SEC24B_chr4_109428815_109545896	109439474	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	222	0.0045	-30	c.133 others(47): Show c.133+5488_133+5517delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	1/23					INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC24D_chr4_118717823_118841126	118810074	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0149 a0001c0002t0001g0149	1	300	0.0033	-30	c.802 others(47): Show c.802-4150_802-4121delCACACACACACACACACACACACACACA CA		SEC24D	ENSG00000150961.15	transcript	ENST00000280551.11	protein_coding	6/22						chr4	TogoVar
SEC31A_chr4_82813509_82896153	82865536	GTATATAT others(23): Show GTATATATATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	328	0.0031	-30	c.119 others(47): Show c.1198-968_1198-939delTATATATATATATATATATATATATATA TA		SEC31A	ENSG00000138674.17	transcript	ENST00000395310.7	protein_coding	10/26						chr4	TogoVar
SECTM1_chr17_82316024_82338766	82319083	CACGTGCG others(23): Show CACGTGCGTGTGTAGAGACGTGTGCGTGTGG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	374	0.0027	-30	c.30 others(41): Show c.3048_*3077delCCACACGCACACGTCTCTACACACGCACGT		SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding					1940		chr17	TogoVar
SECTM1_chr17_82316024_82338766	82319658	CGTGGACA others(23): Show CGTGGACATGCGTGTGCAGAGACGGGAATGT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18960.hp1 NA18978.hp2 NA18960.hp1 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0013 a0001c0002t0002g0001 a0001c0001t0002g0013 a0001c0002t0002g0001	2	374	0.0054	-30	c.24 others(41): Show c.2473_*2502delACATTCCCGTCTCTGCACACGCATGTCCAC		SECTM1	ENSG00000141574.8	transcript	ENST00000269389.8	protein_coding					1365		chr17	TogoVar
SELPLG_chr12_108616895_108638894	108623544	GGAGTGGT others(23): Show GGAGTGGTCTGTGCCTCCGTGGCTGTGGGTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03130.hp1 HG03130.hp1	a0016 a0016	a0016c0018 a0016c0018	a0016c0018t0001 a0016c0018t0001	a0016c0018t0001g0301 a0016c0018t0001g0301	1	486	0.0021	-30	c.734 others(37): Show c.734_763delAACCCACAGCCACGGAGGCACAGACCACTC	p.Gln others(13): Show p.Gln245_Thr254del	SELPLG	ENSG00000110876.10	transcript	ENST00000550948.2	protein_coding	2/2	923/2573	734/1239	245/412			chr12	TogoVar
SELPLG_chr12_108616895_108638894	108623665	GAGTGGTC others(23): Show GAGTGGTCTGTGCTTCCATGGCTGCTGGTGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01175.hp1 HG02109.hp2 HG02559.hp2 others(4): Show HG01175.hp1 HG02109.hp2 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02976.hp1 HG03453.hp1	a0006 a0020 a0006 a0020	a0006c0006 a0020c0013 a0006c0006 a0020c0013	a0006c0006t0003 a0006c0006t0015 a0006c0006t0016 others(1): Show a0006c0006t0003 a0006c0006t0015 a0006c0006t0016 a0020c0013t0013	a0006c0006t0003g0296 a0006c0006t0003g0297 a0006c0006t0003g0298 others(4): Show a0006c0006t0003g0296 a0006c0006t0003g0297 a0006c0006t0003g0298 a0006c0006t0003g0304 a0006c0006t0015g0295 a0006c0006t0016g0328 a0020c0013t0013g0314	7	486	0.0144	-30	c.613 others(37): Show c.613_642delGCACCAGCAGCCATGGAAGCACAGACCACT	p.Ala others(13): Show p.Ala205_Thr214del	SELPLG	ENSG00000110876.10	transcript	ENST00000550948.2	protein_coding	2/2	802/2573	613/1239	205/412			chr12	TogoVar
SELPLG_chr12_108616895_108638894	108623874	GGAGTGGT others(23): Show GGAGTGGTCTGTGCCTCCGTGGGCACTGGTT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG00280.hp2 HG00408.hp2 HG00597.hp1 others(122): Show HG00280.hp2 HG00408.hp2 HG00597.hp1 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01192.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp2 HG01433.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02071.hp1 HG02080.hp1 HG02083.hp1 HG02083.hp2 HG02132.hp1 HG02293.hp2 HG02451.hp1 HG02572.hp2 HG02698.hp2 HG02738.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp2 HG03195.hp1 HG03225.hp1 HG03471.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp1 HG03710.hp1 HG03834.hp1 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp2 NA18942.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18968.hp1 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18982.hp1 NA18982.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19066.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19077.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA20905.hp2	a0002 a0005 a0013 others(1): Show a0002 a0005 a0013 a0014	a0002c0002 a0002c0021 a0005c0005 others(2): Show a0002c0002 a0002c0021 a0005c0005 a0013c0022 a0014c0020	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(6): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0007 a0002c0021t0001 a0005c0005t0001 a0005c0005t0002 a0013c0022t0001 a0014c0020t0001	a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0015 others(91): Show a0002c0002t0001g0001 a0002c0002t0001g0011 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0022 a0002c0002t0001g0028 a0002c0002t0001g0029 a0002c0002t0001g0040 a0002c0002t0001g0043 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0001g0066 a0002c0002t0001g0078 a0002c0002t0001g0083 a0002c0002t0001g0087 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0139 a0002c0002t0001g0147 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0166 a0002c0002t0001g0167 a0002c0002t0001g0176 a0002c0002t0001g0177 a0002c0002t0001g0179 a0002c0002t0001g0180 a0002c0002t0001g0186 a0002c0002t0001g0188 a0002c0002t0001g0196 a0002c0002t0001g0198 a0002c0002t0001g0206 a0002c0002t0001g0207 a0002c0002t0001g0210 a0002c0002t0001g0213 a0002c0002t0001g0214 a0002c0002t0001g0217 a0002c0002t0001g0219 a0002c0002t0001g0222 a0002c0002t0001g0223 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0255 a0002c0002t0001g0262 a0002c0002t0001g0270 a0002c0002t0001g0272 a0002c0002t0001g0273 a0002c0002t0001g0275 a0002c0002t0001g0276 a0002c0002t0001g0277 a0002c0002t0001g0278 a0002c0002t0001g0279 a0002c0002t0001g0280 a0002c0002t0001g0302 a0002c0002t0001g0309 a0002c0002t0001g0337 a0002c0002t0001g0341 a0002c0002t0001g0343 a0002c0002t0001g0344 a0002c0002t0001g0349 a0002c0002t0001g0357 a0002c0002t0001g0361 a0002c0002t0001g0363 a0002c0002t0002g0258 a0002c0002t0002g0307 a0002c0002t0005g0039 a0002c0002t0005g0042 a0002c0002t0005g0294 a0002c0002t0005g0306 a0002c0002t0005g0348 a0002c0002t0007g0130 a0002c0002t0007g0131 a0002c0002t0007g0134 a0002c0002t0007g0152 a0002c0002t0007g0208 a0002c0021t0001g0345 a0005c0005t0001g0013 a0005c0005t0001g0021 a0005c0005t0001g0106 a0005c0005t0001g0113 a0005c0005t0001g0195 a0005c0005t0001g0265 a0005c0005t0002g0013 a0013c0022t0001g0133 a0014c0020t0001g0102	125	486	0.2572	-30	c.404 others(37): Show c.404_433delAACCAGTGCCCACGGAGGCACAGACCACTC	p.Gln others(13): Show p.Gln135_Thr144del	SELPLG	ENSG00000110876.10	transcript	ENST00000550948.2	protein_coding	2/2	593/2573	404/1239	135/412			chr12	TogoVar
SEMA3A_chr7_83950777_84199789	84086449	TTATTATA others(23): Show TTATTATATTCATATATAATATGTATTATTA	T T	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0010 a0001c0007t0001g0010	1	276	0.0036	-30	c.453 others(49): Show c.453+23991_453+24020delTAATAATACATATTATATATGAATAT AATA		SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16						chr7	TogoVar
SEMA3A_chr7_83950777_84199789	84091188	GAAAGAAA others(23): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00741.hp1 HG01099.hp2 others(50): Show HG00544.hp2 HG00741.hp1 HG01099.hp2 HG01106.hp1 HG01167.hp2 HG01169.hp1 HG01891.hp2 HG02015.hp2 HG02055.hp2 HG02165.hp1 HG02559.hp2 HG02622.hp1 HG02886.hp2 HG02895.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp1 HG03453.hp1 HG03471.hp1 HG03490.hp2 HG03492.hp2 HG03540.hp1 HG03927.hp2 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18944.hp1 NA18945.hp2 NA18951.hp1 NA18957.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18975.hp2 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA18985.hp2 NA18991.hp1 NA19000.hp1 NA19001.hp2 NA19007.hp1 NA19011.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp1 NA19056.hp1 NA19057.hp2 NA19076.hp2 NA19080.hp2 NA19082.hp1 NA19086.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0013 a0002c0015	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0009 a0001c0001t0023 a0001c0001t0028 a0001c0002t0002 a0001c0003t0006 a0001c0003t0008 a0001c0003t0012 a0001c0003t0013 a0001c0004t0005 a0001c0004t0006 a0001c0005t0001 a0001c0005t0034 a0001c0013t0002 a0002c0015t0035	a0001c0001t0001g0035 a0001c0001t0001g0064 a0001c0001t0001g0122 others(50): Show a0001c0001t0001g0035 a0001c0001t0001g0064 a0001c0001t0001g0122 a0001c0001t0001g0198 a0001c0001t0003g0029 a0001c0001t0004g0073 a0001c0001t0004g0094 a0001c0001t0004g0108 a0001c0001t0004g0218 a0001c0001t0004g0245 a0001c0001t0009g0061 a0001c0001t0009g0162 a0001c0001t0009g0213 a0001c0001t0009g0237 a0001c0001t0009g0242 a0001c0001t0009g0243 a0001c0001t0009g0244 a0001c0001t0023g0087 a0001c0001t0028g0057 a0001c0002t0002g0018 a0001c0002t0002g0022 a0001c0002t0002g0030 a0001c0002t0002g0038 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0049 a0001c0002t0002g0058 a0001c0002t0002g0062 a0001c0002t0002g0063 a0001c0002t0002g0065 a0001c0002t0002g0066 a0001c0002t0002g0109 a0001c0002t0002g0128 a0001c0002t0002g0129 a0001c0002t0002g0138 a0001c0002t0002g0147 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0002t0002g0210 a0001c0002t0002g0271 a0001c0002t0002g0274 a0001c0003t0006g0222 a0001c0003t0006g0246 a0001c0003t0008g0227 a0001c0003t0012g0189 a0001c0003t0013g0086 a0001c0004t0005g0016 a0001c0004t0005g0253 a0001c0004t0006g0211 a0001c0005t0001g0074 a0001c0005t0034g0041 a0001c0013t0002g0031 a0002c0015t0035g0248	53	276	0.1920	-30	c.453 others(49): Show c.453+19252_453+19281delTCTTTTCTTTCTTTCTTTCTTTCTTT CTTT		SEMA3A	ENSG00000075213.11	transcript	ENST00000265362.9	protein_coding	4/16						chr7	TogoVar
SEMA3C_chr7_80737538_80924051	80905307	GGAGAGAG others(23): Show GGAGAGAGGGGGAGAGAGGGGGAGGGGTGGA	G G	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0080 a0001c0002t0001g0080	1	244	0.0041	-30	c.103 others(49): Show c.103+11342_103+11371delTCCACCCCTCCCCCTCTCTCCCCCTC TCTC		SEMA3C	ENSG00000075223.14	transcript	ENST00000265361.8	protein_coding	2/17						chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83593282	CTCTGTGT others(23): Show CTCTGTGTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01074.hp1 others(18): Show HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01891.hp2 HG02055.hp2 HG02257.hp1 HG02559.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02717.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG03098.hp2 HG03139.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03579.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0011 a0002c0004	a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 others(8): Show a0001c0001t0022 a0001c0001t0023 a0001c0001t0031 a0001c0002t0032 a0001c0003t0004 a0001c0003t0033 a0001c0005t0015 a0001c0005t0028 a0001c0011t0033 a0002c0004t0031 a0002c0004t0089	a0001c0001t0022g0177 a0001c0001t0022g0199 a0001c0001t0022g0200 others(18): Show a0001c0001t0022g0177 a0001c0001t0022g0199 a0001c0001t0022g0200 a0001c0001t0023g0191 a0001c0001t0031g0192 a0001c0002t0032g0188 a0001c0003t0004g0193 a0001c0003t0004g0194 a0001c0003t0004g0195 a0001c0003t0004g0196 a0001c0003t0004g0197 a0001c0003t0004g0198 a0001c0003t0033g0184 a0001c0005t0015g0180 a0001c0005t0015g0201 a0001c0005t0015g0202 a0001c0005t0028g0069 a0001c0005t0028g0070 a0001c0011t0033g0190 a0002c0004t0031g0178 a0002c0004t0089g0179	21	226	0.0929	-30	c.115 others(49): Show c.115+55116_115+55145delCACACACACACACACACACACACACA CAGA		SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	1/16						chr7	TogoVar
SEMA4F_chr2_74649247_74688841	74670984	CTAGGTCT others(23): Show CTAGGTCTCTTTGTTTATCTTATTTAACCCT	C C	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01891.hp1 HG02109.hp2 others(16): Show HG01256.hp2 HG01891.hp1 HG02109.hp2 HG02145.hp2 HG02258.hp2 HG02280.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02886.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03471.hp2 NA18906.hp2 NA20300.hp2	a0001 a0004 a0009 others(1): Show a0001 a0004 a0009 a0013	a0001c0001 a0004c0018 a0009c0014 others(1): Show a0001c0001 a0004c0018 a0009c0014 a0013c0019	a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 others(3): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0013 a0004c0018t0004 a0009c0014t0003 a0013c0019t0015	a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0017 others(9): Show a0001c0001t0003g0009 a0001c0001t0003g0010 a0001c0001t0003g0017 a0001c0001t0003g0055 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0010g0056 a0001c0001t0013g0053 a0004c0018t0004g0049 a0009c0014t0003g0054 a0013c0019t0015g0050	19	296	0.0642	-30	c.551 others(47): Show c.551-2469_551-2440delGTCTCTTTGTTTATCTTATTTAACCCTT AG		SEMA4F	ENSG00000135622.13	transcript	ENST00000357877.7	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr2	TogoVar
SEMA5A_chr5_9030033_9551075	9131629	AAAAAAAA others(23): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG02040.hp2 NA19043.hp1 HG02040.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0014 a0001c0001t0001g0038	2	134	0.0149	-30	c.159 others(49): Show c.1599+4845_1599+4874delGTTTTTTTTTTTTTTTTTTTTTTTTT TTTT		SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	13/22						chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384631	GATAGATA others(23): Show GATAGATAGATAGATAGATAGATAGATAGAT	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03540.hp1 HG02809.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0010 a0001c0005t0001g0005 a0001c0001t0001g0010 a0001c0005t0001g0005	2	134	0.0149	-30	c.-77 others(47): Show c.-77-4638_-77-4609delATCTATCTATCTATCTATCTATCTATCT AT		SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22						chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9384649	TAGATAGA others(23): Show TAGATAGATAGATATAGATAGATAGATATAG	T T	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG06807.hp1 NA18964.hp2 HG02040.hp1 HG06807.hp1 NA18964.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0023 a0001c0002 a0001c0004 a0001c0023	a0001c0002t0047 a0001c0004t0005 a0001c0023t0018 a0001c0002t0047 a0001c0004t0005 a0001c0023t0018	a0001c0002t0047g0053 a0001c0004t0005g0050 a0001c0023t0018g0110 a0001c0002t0047g0053 a0001c0004t0005g0050 a0001c0023t0018g0110	3	134	0.0224	-30	c.-77 others(47): Show c.-77-4656_-77-4627delCTATATCTATCTATCTATATCTATCTAT CT		SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22						chr5	TogoVar
SENP3_chr17_7556919_7576969	7571837	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01516.hp1 others(7): Show HG01070.hp2 HG01071.hp2 HG01516.hp1 HG01517.hp2 HG02698.hp1 HG03130.hp2 HG03579.hp2 HG03831.hp1 NA19066.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0023 others(1): Show a0001c0001t0005g0002 a0001c0001t0005g0003 a0001c0001t0005g0023 a0001c0001t0005g0038	10	446	0.0224	-30	c.39 others(39): Show c.397_*426delTATATATATATATATATATATATATATATA		SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11				397	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571880	TATATATA others(23): Show TATATATATATATATATATATATATATATAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0180 a0001c0001t0180	a0001c0001t0180g0007 a0001c0001t0180g0007	1	446	0.0022	-30	c.39 others(39): Show c.399_*428delTATATATATATATATATATATATATATAAA		SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11				399	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP3_chr17_7556919_7576969	7571882	TATATATA others(23): Show TATATATATATATATATATATATATATAAAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00642.hp2 HG01167.hp2 HG01169.hp2 others(14): Show HG00642.hp2 HG01167.hp2 HG01169.hp2 HG01255.hp1 HG03490.hp1 HG03492.hp2 HG03669.hp2 HG04115.hp1 NA18950.hp2 NA18952.hp2 NA18953.hp1 NA19007.hp1 NA19012.hp1 NA19062.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0048 a0001c0001t0052 others(3): Show a0001c0001t0009 a0001c0001t0048 a0001c0001t0052 a0001c0001t0069 a0001c0001t0073 a0001c0001t0096	a0001c0001t0009g0001 a0001c0001t0009g0009 a0001c0001t0009g0030 others(7): Show a0001c0001t0009g0001 a0001c0001t0009g0009 a0001c0001t0009g0030 a0001c0001t0009g0064 a0001c0001t0048g0001 a0001c0001t0052g0014 a0001c0001t0069g0006 a0001c0001t0069g0044 a0001c0001t0073g0010 a0001c0001t0096g0001	17	446	0.0381	-30	c.40 others(39): Show c.407_*436delTATATATATATATATATATAAAAATATATA		SENP3	ENSG00000161956.14	transcript	ENST00000321337.12	protein_coding	11/11				407	INFO_REALIGN_3_PRIME	chr17	TogoVar
SENP7_chr3_101319205_101518212	101463368	TATATATA others(23): Show TATATATATATATATATATATATATATATAC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00735.hp1 HG00741.hp2 others(12): Show HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01123.hp2 HG01167.hp2 HG01169.hp1 HG01361.hp1 HG01515.hp2 HG02145.hp2 HG02738.hp1 HG03239.hp1 HG03540.hp2 HG03704.hp1 HG03710.hp2 HG03927.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0121 a0001c0003t0002g0126 a0001c0003t0002g0132 others(12): Show a0001c0003t0002g0121 a0001c0003t0002g0126 a0001c0003t0002g0132 a0001c0003t0002g0152 a0001c0003t0002g0153 a0001c0003t0002g0154 a0001c0003t0002g0155 a0001c0003t0002g0156 a0001c0003t0002g0160 a0001c0003t0002g0161 a0001c0003t0002g0162 a0001c0003t0002g0166 a0001c0003t0002g0182 a0001c0003t0002g0183 a0001c0003t0002g0184	15	370	0.0405	-30	c.187 others(47): Show c.187-4346_187-4317delGTATATATATATATATATATATATATAT AT		SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	3/23						chr3	TogoVar
SEPHS1_chr10_13312428_13353293	13325895	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0072 a0001c0001t0009g0072	1	378	0.0027	-30	c.751 others(47): Show c.751+2426_751+2455delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		SEPHS1	ENSG00000086475.15	transcript	ENST00000327347.10	protein_coding	7/8						chr10	TogoVar
SEPTIN10_chr2_109537799_109618966	109590029	CATATATA others(23): Show CATATATACACACATATATATGTGTGTGTAT	C C	intron_variant intron_variant	MODIFIER	HG02647.hp1 NA19030.hp1 NA21309.hp1 HG02647.hp1 NA19030.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0133 a0001c0001t0006g0135 a0001c0001t0006g0016 a0001c0001t0006g0133 a0001c0001t0006g0135	3	404	0.0074	-30	c.99+ others(45): Show c.99+2992_99+3021delATACACACACATATATATGTGTGTATATAT		SEPTIN10	ENSG00000186522.15	transcript	ENST00000397712.7	protein_coding	2/10						chr2	TogoVar
SEPTIN9_chr17_77276499_77505593	77351687	GCGCCCAG others(23): Show GCGCCCAGCCCAGCGGCCCTTCAGGCGGGCC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG01993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	150	0.0067	-30	c.76+ others(47): Show c.76+44492_76+44521delGCCCAGCCCAGCGGCCCTTCAGGCGGGC CC		SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77351687	GCGCCCAG others(23): Show GCGCCCAGCCCAGCGGCCCTTCAGGCGGGCC	G G	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG01993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	158	0.0063	-30	c.22+ others(47): Show c.22+31341_22+31370delGCCCAGCCCAGCGGCCCTTCAGGCGGGC CC		SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158143325	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTCTATATATA	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0271 a0001c0002t0003g0271	1	366	0.0027	-30	c.610 others(45): Show c.610-171_610-142delTATATATAGAGAGAGAGAGAGAGAGAGAGA		SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding	7/16						chr6	TogoVar
SERHL2_chr22_42548956_42579382	42552875	GGGCTACA others(23): Show GGGCTACAAAGCGAGACTCTGTTTCAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0007 a0003c0007t0007	a0003c0007t0007g0032 a0003c0007t0007g0032	1	432	0.0023	-30	c.-11 others(41): Show c.-1145_-1116delGGCTACAAAGCGAGACTCTGTTTCAAAAAA		SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding					1080		chr22	TogoVar

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