Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
SEMA3E_chr7_83358238_83654139	83383210	T T	TAGATTTG others(28): Show TAGATTTGATAAGAAAGTGATTTCTTATCAAAATAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02055.hp2 HG02145.hp1 others(8): Show HG01891.hp1 HG02055.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02809.hp2 HG02965.hp2 HG02976.hp1 HG03209.hp2 NA19043.hp2 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 others(4): Show a0001c0001t0019 a0001c0001t0022 a0001c0001t0024 a0001c0001t0063 a0001c0001t0070 a0001c0001t0097 a0002c0004t0090	a0001c0001t0019g0163 a0001c0001t0019g0165 a0001c0001t0019g0166 others(8): Show a0001c0001t0019g0163 a0001c0001t0019g0165 a0001c0001t0019g0166 a0001c0001t0022g0199 a0001c0001t0022g0200 a0001c0001t0024g0004 a0001c0001t0024g0005 a0001c0001t0063g0065 a0001c0001t0070g0073 a0001c0001t0097g0226 a0002c0004t0090g0176	11	226	0.0487	35	c.187 others(54): Show c.1875+2049_1875+2083dupTTATTTTGATAAGAAATCACTTTCTT ATCAAATCT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	16/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83389635	C C	CATACACG others(28): Show CATACACGTATATATTACATGTATACATACACACAT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG02300.hp1 HG03491.hp2 others(6): Show HG00735.hp2 HG02300.hp1 HG03491.hp2 HG03492.hp2 HG03704.hp1 NA18946.hp2 NA18950.hp1 NA18963.hp1 NA19002.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0007 a0002c0004t0012 others(5): Show a0002c0004t0003 a0002c0004t0007 a0002c0004t0012 a0002c0004t0014 a0002c0004t0032 a0002c0004t0085 a0002c0004t0089 a0002c0004t0096	a0002c0004t0003g0100 a0002c0004t0007g0211 a0002c0004t0007g0214 others(6): Show a0002c0004t0003g0100 a0002c0004t0007g0211 a0002c0004t0007g0214 a0002c0004t0012g0036 a0002c0004t0014g0133 a0002c0004t0032g0181 a0002c0004t0085g0095 a0002c0004t0089g0179 a0002c0004t0096g0212	9	226	0.0398	35	c.166 others(54): Show c.1668-2620_1668-2586dupATGTGTGTATGTATACATGTAATATA TACGTGTAT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	14/16			chr7	TogoVar
SEMA3E_chr7_83358238_83654139	83454272	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0051 a0001c0001t0051	a0001c0001t0051g0046 a0001c0001t0051g0046	1	226	0.0044	35	c.456 others(54): Show c.456+12209_456+12210insATATATATATATATATATATATATAT ATATATTTT	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9353072	A A	AGGAAAGG others(28): Show AGGAAAGGAAAGGAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0010 a0001c0001t0001g0010	1	134	0.0075	35	c.125 others(54): Show c.125-15261_125-15260insCTTTCCTTTCCTTTCCTTTCCTTCCT TTCCTTTCC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353100	A A	AGGAAGGA others(28): Show AGGAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0042 a0001c0005t0042	a0001c0005t0042g0070 a0001c0005t0042g0070	1	134	0.0075	35	c.125 others(54): Show c.125-15289_125-15288insCTTTCCTTTCCTTTCCTTTCCTTTCC TTTCCTTCC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353189	G G	GGGAAAGG others(28): Show GGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03579.hp2 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0005 a0001c0010 a0001c0005 a0001c0010	a0001c0005t0001 a0001c0010t0076 a0001c0005t0001 a0001c0010t0076	a0001c0005t0001g0005 a0001c0010t0076g0125 a0001c0005t0001g0005 a0001c0010t0076g0125	2	134	0.0149	35	c.125 others(54): Show c.125-15412_125-15378dupTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCC	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353236	G G	GAAAGGAA others(28): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0131 a0001c0001t0002g0131	1	134	0.0075	35	c.125 others(54): Show c.125-15425_125-15424insTCCTTCCTTTCCTTTCCTTTCCTTTC CTTTCCTTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353354	G G	GAAGGAAA others(28): Show GAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0020 a0001c0021t0020	a0001c0021t0020g0004 a0001c0021t0020g0004	1	134	0.0075	35	c.125 others(54): Show c.125-15577_125-15543dupTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9426432	T T	TAAATAAA others(28): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02965.hp2 HG02258.hp1 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0013 a0001c0005t0065 a0001c0001t0013 a0001c0005t0065	a0001c0001t0013g0036 a0001c0005t0065g0123 a0001c0001t0013g0036 a0001c0005t0065g0123	2	134	0.0149	35	c.-78 others(54): Show c.-78+11289_-78+11323dupTATTTTATTTTATTTTATTTTATTTT ATTTTATTT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	2/22			chr5	TogoVar
SENP1_chr12_48037897_48111079	48056120	A A	AATATAGT others(28): Show AATATAGTATATATTATTTTATATATATTATTTAAT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02735.hp2 HG01123.hp1 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0004 a0001c0009t0004 a0001c0001t0004 a0001c0009t0004	a0001c0001t0004g0321 a0001c0009t0004g0337 a0001c0001t0004g0321 a0001c0009t0004g0337	2	394	0.0051	35	c.140 others(54): Show c.1408-7023_1408-6989dupATTAAATAATATATATAAAATAATAT ATACTATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SENP1_chr12_48037897_48111079	48056848	T T	TATATATT others(28): Show TATATATTATTTAATATATTACATATTACATATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0334 a0001c0001t0004g0334	1	394	0.0025	35	c.140 others(54): Show c.1407+6827_1407+6861dupTATATATGTAATATGTAATATATTAA ATAATATAT	SENP1	ENSG00000079387.15	transcript	ENST00000549518.6	protein_coding	13/17			chr12	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0276 a0001c0001t0066g0276	1	306	0.0033	35	c.188 others(54): Show c.1885-8827_1885-8826insAAAAAAATATATATATATATATATAT ATATATATA	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP6_chr6_75596880_75723281	75719958	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0003 a0001c0008t0003	a0001c0008t0003g0186 a0001c0008t0003g0186	1	362	0.0028	35	c.43 others(46): Show c.4364_*4365insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding		1678		chr6	TogoVar
SENP7_chr3_101319205_101518212	101410845	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02886.hp2 HG03098.hp2 others(3): Show HG02615.hp1 HG02886.hp2 HG03098.hp2 HG03471.hp1 NA18948.hp2 NA18969.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0007	a0001c0001 a0003c0004 a0004c0006 others(1): Show a0001c0001 a0003c0004 a0004c0006 a0007c0010	a0001c0001t0001 a0003c0004t0002 a0004c0006t0002 others(1): Show a0001c0001t0001 a0003c0004t0002 a0004c0006t0002 a0007c0010t0002	a0001c0001t0001g0322 a0001c0001t0001g0348 a0003c0004t0002g0101 others(3): Show a0001c0001t0001g0322 a0001c0001t0001g0348 a0003c0004t0002g0101 a0004c0006t0002g0170 a0004c0006t0002g0172 a0007c0010t0002g0104	6	370	0.0162	35	c.482 others(52): Show c.482+6713_482+6747dupATTTTATTTTATTTTATTTTATTTTATT TTATTTT	SENP7	ENSG00000138468.16	transcript	ENST00000394095.7	protein_coding	5/23			chr3	TogoVar
SEPTIN10_chr2_109537799_109618966	109604383	A A	AAGGGGAG others(28): Show AAGGGGAGGGGAGGGGAGGGGAGGGGCGGGGAGGGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00609.hp2 HG00673.hp2 others(100): Show HG00597.hp1 HG00609.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01081.hp1 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02273.hp2 HG02280.hp2 HG02300.hp2 HG02602.hp2 HG02630.hp1 HG02886.hp1 HG03017.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 NA18947.hp1 NA18949.hp1 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp2 NA18991.hp2 NA18995.hp1 NA19001.hp1 NA19003.hp2 NA19005.hp1 NA19009.hp2 NA19030.hp1 NA19056.hp1 NA19060.hp2 NA19062.hp1 NA19076.hp1 NA19081.hp1 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp1 NA19240.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0002t0002 a0003c0004t0006	a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 others(96): Show a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0002g0128 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0138 a0001c0001t0002g0162 a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0018 a0001c0001t0003g0019 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0030 a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0054 a0001c0001t0003g0055 a0001c0001t0003g0056 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0065 a0001c0001t0003g0066 a0001c0001t0003g0067 a0001c0001t0003g0068 a0001c0001t0003g0069 a0001c0001t0003g0175 a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0006g0133 a0001c0001t0006g0134 a0001c0001t0006g0135 a0001c0001t0006g0136 a0001c0001t0006g0137 a0001c0001t0006g0161 a0001c0001t0009g0105 a0001c0002t0002g0070 a0001c0002t0002g0071 a0001c0002t0002g0072 a0001c0002t0002g0073 a0003c0004t0006g0160	103	404	0.2550	35	c.30+ others(50): Show c.30+9414_30+9415insCCCCTCCCCGCCCCTCCCCTCCCCTCCCCT CCCCT	SEPTIN10	ENSG00000186522.15	transcript	ENST00000397712.7	protein_coding	1/10			chr2	TogoVar
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATATAT others(28): Show ATATATATATATTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0101 a0001c0001t0035g0101	1	390	0.0026	35	c.720 others(52): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAAAAAAAAAATAT ATATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SEPTIN2_chr2_241310925_241359027	241355578	A A	ACTCCCCG others(28): Show ACTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAACC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0072 a0001c0001t0010g0072	1	408	0.0025	35	c.36 others(46): Show c.3641_*3642insCTCCCCGCCCAGGACCTAGCCCCGCCCAGCGAAC C	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding		1552		chr2	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0158 a0001c0001t0038g0158	1	368	0.0027	35	c.92 others(46): Show c.9279_*9280insATATATATATATATATTTTTTTTTTTTTTTTTTT T	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02602.hp1 NA18993.hp2 HG02602.hp1 NA18993.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0014 a0001c0001t0005g0194 a0001c0001t0005g0014 a0001c0001t0005g0194	2	368	0.0054	35	c.92 others(46): Show c.9279_*9280insATATATATATATATATATATATTTTTTTTTTTTT T	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03017.hp1 NA18985.hp1 others(1): Show HG02886.hp2 HG03017.hp1 NA18985.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0099 a0001c0001t0002 a0001c0001t0004 a0001c0001t0099	a0001c0001t0002g0034 a0001c0001t0004g0005 a0001c0001t0099g0066 a0001c0001t0002g0034 a0001c0001t0004g0005 a0001c0001t0099g0066	4	368	0.0109	35	c.92 others(46): Show c.9279_*9280insATATATATATATATATATATATATTTTTTTTTTT T	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00735.hp2 HG01069.hp2 others(12): Show HG00642.hp2 HG00735.hp2 HG01069.hp2 HG01071.hp2 HG01361.hp2 HG01517.hp1 HG02074.hp1 HG02683.hp1 HG02738.hp2 NA18990.hp1 NA19005.hp2 NA19011.hp1 NA19067.hp2 NA19076.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 others(6): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0023 a0001c0001t0027 a0001c0001t0063 a0001c0001t0064	a0001c0001t0002g0034 a0001c0001t0004g0005 a0001c0001t0004g0035 others(8): Show a0001c0001t0002g0034 a0001c0001t0004g0005 a0001c0001t0004g0035 a0001c0001t0005g0009 a0001c0001t0005g0053 a0001c0001t0007g0013 a0001c0001t0009g0026 a0001c0001t0023g0077 a0001c0001t0027g0191 a0001c0001t0063g0180 a0001c0001t0064g0182	15	368	0.0408	35	c.92 others(46): Show c.9279_*9280insATATATATATATATATATATATATATTTTTTTTT T	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp2 HG04115.hp1 HG02148.hp2 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0028 a0001c0001t0002 a0001c0001t0028	a0001c0001t0002g0036 a0001c0001t0028g0037 a0001c0001t0002g0036 a0001c0001t0028g0037	2	368	0.0054	35	c.92 others(46): Show c.9279_*9280insATATATATATATATATATATATATATATTTTTTT T	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0008 a0001c0001t0004g0008	1	368	0.0027	35	c.92 others(46): Show c.9279_*9280insATATATATATATATATATATATATATATATTTTT T	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERPINA5_chr14_94576426_94598118	94591549	G G	GTTCTATT others(28): Show GTTCTATTCTATTCTATTCTATTCTATTCTATTCTA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00621.hp1 HG02738.hp1 others(2): Show HG00280.hp2 HG00621.hp1 HG02738.hp1 NA18957.hp2 NA18960.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0003 a0002c0003t0006 a0001c0001t0002 a0002c0003t0003 a0002c0003t0006	a0001c0001t0002g0105 a0002c0003t0003g0282 a0002c0003t0003g0288 others(2): Show a0001c0001t0002g0105 a0002c0003t0003g0282 a0002c0003t0003g0288 a0002c0003t0003g0306 a0002c0003t0006g0079	5	464	0.0108	35	c.103 others(52): Show c.1039-478_1039-444dupATTCTATTCTATTCTATTCTATTCTATT CTATTCT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINA9_chr14_94457721_94481197	94477333	T T	TGTGCACG others(28): Show TGTGCACGCACTATCTTTGTGCCATGACTCACGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0288 a0001c0002t0003g0288	1	466	0.0022	35	c.-12 others(46): Show c.-1216_-1215insGACCGTGAGTCATGGCACAAAGATAGTGCGTGCA C	SERPINA9	ENSG00000170054.16	transcript	ENST00000674397.2	protein_coding		1137		chr14	TogoVar
SERPINB11_chr18_63697960_63728893	63709616	T T	TAAATAAA others(28): Show TAAATAAAATAAAATAAAATAAAATAAAATAAAATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0076 a0002c0001t0001g0076	1	422	0.0024	35	c.-15 others(50): Show c.-15-530_-15-529insTAAAATAAAATAAAATAAAATAAAATAAAA TAAAA	SERPINB11	ENSG00000206072.13	transcript	ENST00000544088.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SESN1_chr6_108979309_109099846	109064584	A A	AGAGGAGA others(28): Show AGAGGAGAGGAGAGGGGAGGGGAGGGGAGGGGAGGG	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0010 a0001c0001t0010g0010	1	184	0.0054	35	c.279 others(54): Show c.279+29210_279+29211insCCCTCCCCTCCCCTCCCCTCCCCTCT CCTCTCCTC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SETD2_chr3_47011436_47169113	47044344	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18975.hp1 NA18975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0027 a0001c0002t0002g0027	1	308	0.0033	35	c.709 others(54): Show c.7099-1679_7099-1645dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	16/20			chr3	TogoVar
SETD2_chr3_47011436_47169113	47049797	C C	CTATGAGT others(28): Show CTATGAGTTTATATTATTATATATAAACTTATTCTA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(144): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00544.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00639.hp2 HG00642.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp1 HG01109.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02132.hp1 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp1 HG03688.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp1 NA18940.hp1 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18947.hp2 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18964.hp2 NA18967.hp1 NA18970.hp2 NA18972.hp2 NA18975.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp1 NA18984.hp2 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19058.hp1 NA19060.hp1 NA19063.hp1 NA19066.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp2 NA19084.hp1 NA19087.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(10): Show a0001 a0002 a0004 a0005 a0006 a0008 a0009 a0010 a0013 a0014 a0016 a0017 a0018	a0001c0005 a0002c0001 a0002c0016 others(14): Show a0001c0005 a0002c0001 a0002c0016 a0002c0017 a0002c0018 a0004c0004 a0004c0010 a0005c0007 a0006c0008 a0008c0028 a0009c0027 a0010c0011 a0013c0022 a0014c0021 a0016c0019 a0017c0013 a0018c0024	a0001c0005t0001 a0001c0005t0005 a0002c0001t0001 others(18): Show a0001c0005t0001 a0001c0005t0005 a0002c0001t0001 a0002c0001t0002 a0002c0001t0005 a0002c0016t0001 a0002c0017t0001 a0002c0018t0001 a0004c0004t0001 a0004c0004t0004 a0004c0010t0001 a0005c0007t0001 a0006c0008t0001 a0008c0028t0001 a0009c0027t0001 a0010c0011t0001 a0013c0022t0001 a0014c0021t0001 a0016c0019t0001 a0017c0013t0001 a0018c0024t0001	a0001c0005t0001g0115 a0001c0005t0001g0123 a0001c0005t0001g0149 others(144): Show a0001c0005t0001g0115 a0001c0005t0001g0123 a0001c0005t0001g0149 a0001c0005t0005g0072 a0002c0001t0001g0144 a0002c0001t0001g0145 a0002c0001t0001g0146 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0150 a0002c0001t0001g0154 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0161 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0165 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0180 a0002c0001t0001g0181 a0002c0001t0001g0182 a0002c0001t0001g0183 a0002c0001t0001g0184 a0002c0001t0001g0186 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0190 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0195 a0002c0001t0001g0196 a0002c0001t0001g0197 a0002c0001t0001g0198 a0002c0001t0001g0199 a0002c0001t0001g0200 a0002c0001t0001g0201 a0002c0001t0001g0202 a0002c0001t0001g0203 a0002c0001t0001g0204 a0002c0001t0001g0205 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0212 a0002c0001t0001g0213 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0217 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0223 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0247 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0250 a0002c0001t0001g0251 a0002c0001t0001g0252 a0002c0001t0001g0253 a0002c0001t0001g0254 a0002c0001t0001g0255 a0002c0001t0001g0261 a0002c0001t0002g0001 a0002c0001t0002g0002 a0002c0001t0005g0073 a0002c0016t0001g0185 a0002c0017t0001g0156 a0002c0018t0001g0170 a0004c0004t0001g0116 a0004c0004t0001g0117 a0004c0004t0001g0118 a0004c0004t0001g0125 a0004c0004t0001g0126 a0004c0004t0001g0127 a0004c0004t0001g0129 a0004c0004t0001g0130 a0004c0004t0001g0131 a0004c0004t0001g0132 a0004c0004t0001g0133 a0004c0004t0001g0134 a0004c0004t0001g0135 a0004c0004t0001g0136 a0004c0004t0001g0140 a0004c0004t0001g0141 a0004c0004t0001g0142 a0004c0004t0001g0257 a0004c0004t0001g0258 a0004c0004t0001g0259 a0004c0004t0001g0260 a0004c0004t0004g0124 a0004c0004t0004g0128 a0004c0010t0001g0137 a0005c0007t0001g0119 a0005c0007t0001g0120 a0005c0007t0001g0121 a0005c0007t0001g0122 a0006c0008t0001g0206 a0006c0008t0001g0207 a0006c0008t0001g0208 a0008c0028t0001g0211 a0009c0027t0001g0143 a0010c0011t0001g0224 a0013c0022t0001g0234 a0014c0021t0001g0256 a0016c0019t0001g0151 a0017c0013t0001g0139 a0018c0024t0001g0164	147	308	0.4773	35	c.696 others(54): Show c.6964-3177_6964-3176insTAGAATAAGTTTATATATAATAATAT AAACTCATA	SETD2	ENSG00000181555.22	transcript	ENST00000409792.4	protein_coding	15/20			chr3	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02886.hp1 HG04228.hp2 HG02615.hp2 HG02886.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0099 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0099	3	290	0.0103	35	c.676 others(52): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD3_chr14_99392748_99485859	99423588	C C	CACAAAAA others(28): Show CACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	290	0.0035	35	c.676 others(52): Show c.676-9655_676-9654insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTGT	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding	6/12			chr14	TogoVar
SETD3_chr14_99392748_99485859	99482755	T T	TAAATGCT others(28): Show TAAATGCTGTTTCTAAAATTGAATGTCATAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	290	0.0035	35	c.-20 others(46): Show c.-2071_-2037dupTTTCTTTATGACATTCAATTTTAGAAACAGCATT T	SETD3	ENSG00000183576.13	transcript	ENST00000331768.10	protein_coding		1897		chr14	TogoVar
SEZ6L2_chr16_29866159_29904550	29903199	A A	ATTTCCTT others(28): Show ATTTCCTTTTCCATTTTCTTCCAGTCTTTAAGACAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0011 a0001c0004t0011	a0001c0004t0011g0116 a0001c0004t0011g0116	1	308	0.0033	35	c.-41 others(46): Show c.-4181_-4180insATGTCTTAAAGACTGGAAGAAAATGGAAAAGGAA A	SEZ6L2	ENSG00000174938.15	transcript	ENST00000617533.5	protein_coding		3650		chr16	TogoVar
SEZ6L_chr22_26164462_26388596	26348767	A A	AGGGGGAG others(28): Show AGGGGGAGGGAAGGAGAGGGAAGGGAGGGAAGGGAG	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0167 a0001c0001t0003g0167	1	240	0.0042	35	c.240 others(52): Show c.2407+858_2407+859insGAGGGAAGGAGAGGGAAGGGAGGGAAGG GAGGGGG	SEZ6L	ENSG00000100095.19	transcript	ENST00000248933.11	protein_coding	11/16		INFO_REALIGN_3_PRIME	chr22	TogoVar
SF3B1_chr2_197384784_197440028	197418234	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 NA18939.hp1 HG02083.hp1 NA18939.hp1	a0001 a0001	a0001c0001 a0001c0012 a0001c0001 a0001c0012	a0001c0001t0001 a0001c0012t0001 a0001c0001t0001 a0001c0012t0001	a0001c0001t0001g0067 a0001c0012t0001g0299 a0001c0001t0001g0067 a0001c0012t0001g0299	2	344	0.0058	35	c.495 others(50): Show c.495+274_495+275insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	SF3B1	ENSG00000115524.17	transcript	ENST00000335508.11	protein_coding	5/24			chr2	TogoVar
SF3B3_chr16_70518816_70582668	70532357	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG02735.hp1 HG01123.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0059 a0001c0001t0002g0061	2	342	0.0059	35	c.571 others(50): Show c.571-112_571-111insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAA	SF3B3	ENSG00000189091.13	transcript	ENST00000302516.10	protein_coding	4/25		INFO_REALIGN_3_PRIME	chr16	TogoVar
SFMBT1_chr3_52898572_53051073	52945136	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 NA19004.hp1 HG02258.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0042 a0001c0001t0001g0225 a0001c0001t0001g0042 a0001c0001t0001g0225	2	328	0.0061	35	c.124 others(52): Show c.124-1544_124-1543insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	SFMBT1	ENSG00000163935.14	transcript	ENST00000394752.8	protein_coding	3/20			chr3	TogoVar
SFSWAP_chr12_131706090_131804738	131783792	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0118 a0001c0001t0001g0118	1	318	0.0031	35	c.240 others(54): Show c.2409-2671_2409-2670insATATATATATATATATATATATATAT ATATATATA	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding	14/17			chr12	TogoVar
SFSWAP_chr12_131706090_131804738	131801569	G G	GTGGCCTG others(28): Show GTGGCCTGTGTTTGCCGTGGCTGTTCGTGTTTGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03098.hp2 HG03139.hp2 HG03098.hp2 HG03139.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0044 a0001c0012t0001g0045 a0001c0012t0001g0044 a0001c0012t0001g0045	2	318	0.0063	35	c.20 others(46): Show c.2081_*2082insTGGCCTGTGTTTGCCGTGGCTGTTCGTGTTTGCC A	SFSWAP	ENSG00000061936.10	transcript	ENST00000261674.9	protein_coding		1832		chr12	TogoVar
SGCZ_chr8_14079845_15243431	14207149	C C	CTGTTTAA others(28): Show CTGTTTAAAAAAAAATTTATTTTTAACATATTCTGT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0023 a0001c0001t0038g0023	1	102	0.0098	35	c.424 others(54): Show c.424+30442_424+30443insACAGAATATGTTAAAAATAAATTTTT TTTTAAACA	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	4/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14829196	C C	CCCCAACA others(28): Show CCCCAACACTCTGATAGACCCCAGTGCATATTGTTG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03209.hp2 HG03540.hp1 HG01243.hp2 HG03209.hp2 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0019 a0001c0001t0083 a0001c0001t0018 a0001c0001t0019 a0001c0001t0083	a0001c0001t0018g0037 a0001c0001t0019g0028 a0001c0001t0083g0057 a0001c0001t0018g0037 a0001c0001t0019g0028 a0001c0001t0083g0057	3	102	0.0294	35	c.40- others(54): Show c.40-274271_40-274270insCAACAATATGCACTGGGGTCTATCAG AGTGTTGGG	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGCZ_chr8_14079845_15243431	14829196	C C	CCCCAACA others(28): Show CCCCAACACTCTGATAGGCCCCAGTGCATATTGTTG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01346.hp1 HG01975.hp2 others(18): Show HG01109.hp1 HG01346.hp1 HG01975.hp2 HG01993.hp1 HG02109.hp1 HG02109.hp2 HG02280.hp2 HG02622.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03139.hp2 HG03486.hp1 HG06807.hp2 NA18906.hp1 NA18906.hp2 NA19240.hp1 NA20129.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 others(18): Show a0001c0001t0016 a0001c0001t0021 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0034 a0001c0001t0038 a0001c0001t0040 a0001c0001t0049 a0001c0001t0054 a0001c0001t0055 a0001c0001t0059 a0001c0001t0062 a0001c0001t0074 a0001c0001t0075 a0001c0001t0086 a0001c0001t0088 a0001c0001t0089 a0002c0002t0004 a0002c0002t0007 a0003c0003t0043	a0001c0001t0016g0017 a0001c0001t0021g0015 a0001c0001t0024g0031 others(18): Show a0001c0001t0016g0017 a0001c0001t0021g0015 a0001c0001t0024g0031 a0001c0001t0025g0022 a0001c0001t0028g0006 a0001c0001t0034g0030 a0001c0001t0038g0023 a0001c0001t0040g0038 a0001c0001t0049g0046 a0001c0001t0054g0058 a0001c0001t0055g0100 a0001c0001t0059g0055 a0001c0001t0062g0082 a0001c0001t0074g0098 a0001c0001t0075g0044 a0001c0001t0086g0078 a0001c0001t0088g0054 a0001c0001t0089g0050 a0002c0002t0004g0027 a0002c0002t0007g0070 a0003c0003t0043g0041	21	102	0.2059	35	c.40- others(54): Show c.40-274305_40-274271dupCAACAATATGCACTGGGGCCTATCAG AGTGTTGGG	SGCZ	ENSG00000185053.14	transcript	ENST00000382080.6	protein_coding	1/7			chr8	TogoVar
SGIP1_chr1_66529153_66756139	66660043	G G	GAAGGAAG others(28): Show GAAGGAAGGAAGGAAGGAAGGAAAGAAAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02055.hp1 HG03942.hp2 others(9): Show HG01168.hp2 HG02055.hp1 HG03942.hp2 NA18522.hp1 NA18952.hp2 NA18957.hp1 NA18970.hp1 NA18984.hp1 NA18991.hp1 NA19011.hp1 NA19064.hp1 NA19074.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0001c0004 a0007c0015 a0001c0001 a0001c0004 a0007c0015	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0059 a0001c0004t0001 a0001c0004t0025 a0007c0015t0001	a0001c0001t0001g0263 a0001c0001t0002g0264 a0001c0001t0004g0002 others(9): Show a0001c0001t0001g0263 a0001c0001t0002g0264 a0001c0001t0004g0002 a0001c0001t0012g0101 a0001c0001t0012g0102 a0001c0001t0059g0103 a0001c0004t0001g0014 a0001c0004t0001g0088 a0001c0004t0001g0092 a0001c0004t0001g0261 a0001c0004t0025g0086 a0007c0015t0001g0110	12	302	0.0397	35	c.460 others(50): Show c.460-468_460-467insGGAAGGAAGGAAGGAAGGAAAGAAAAAGAA AGAAA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66660043	G G	GAAGGAAG others(28): Show GAAGGAAGGAAGGAAGGAAGGAAGGAAAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0302 a0001c0001t0028g0302	1	302	0.0033	35	c.460 others(50): Show c.460-468_460-467insGGAAGGAAGGAAGGAAGGAAGGAAAAAGAA AGAAA	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr1	TogoVar
SGIP1_chr1_66529153_66756139	66746581	A A	ACTAGAGA others(28): Show ACTAGAGATATTAGCTCATTTAATTCTCTTATCAAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0039 a0001c0001t0047g0039	1	302	0.0033	35	c.34 others(46): Show c.3488_*3522dupTAGAGATATTAGCTCATTTAATTCTCTTATCAAT C	SGIP1	ENSG00000118473.23	transcript	ENST00000371037.9	protein_coding	25/25	3523	INFO_REALIGN_3_PRIME	chr1	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(28): Show GAAAAGAAAGAAAGAGAGAGAGAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0242	1	250	0.0040	35	c.286 others(54): Show c.286-24983_286-24982insTTCTTTCTTTCTCTCTCTCTCTCTTT CTTTCTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(28): Show GAAAAGAAAGAAAGAGAGAGAGAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02451.hp2 HG03041.hp2 others(1): Show HG01891.hp2 HG02451.hp2 HG03041.hp2 NA18522.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0005c0008 a0001c0001 a0001c0002 a0005c0008	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0005c0008t0001	a0001c0001t0001g0121 a0001c0001t0009g0239 a0001c0002t0001g0208 others(1): Show a0001c0001t0001g0121 a0001c0001t0009g0239 a0001c0002t0001g0208 a0005c0008t0001g0034	4	250	0.0160	35	c.286 others(54): Show c.286-24983_286-24982insTTCTTTCTCTCTCTCTCTCTCTCTTT CTTTCTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK1_chr6_134164256_134323112	134232413	G G	GAAAAGAA others(28): Show GAAAAGAAAGAAGAGAGAGAGAGAGAGAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	250	0.0040	35	c.286 others(54): Show c.286-24983_286-24982insTTCTTTCTTCTCTCTCTCTCTCTCTT CTTTCTTTT	SGK1	ENSG00000118515.12	transcript	ENST00000367858.10	protein_coding	2/13			chr6	TogoVar
SGK3_chr8_66707781_66867022	66720795	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0005 a0001c0002t0002g0005	1	142	0.0070	35	c.-12 others(54): Show c.-122+7962_-122+7963insTATATATATATATATATATATATATA TATATATAT	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16			chr8	TogoVar
SGK3_chr8_66707781_66867022	66726801	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0049 a0001c0002t0002g0049	1	142	0.0070	35	c.-12 others(56): Show c.-122+13990_-122+13991insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	SGK3	ENSG00000104205.16	transcript	ENST00000521198.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar

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