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
ELOVL6_chr4_110040846_110203615	110084589	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00597.hp1 NA18955.hp2 NA18966.hp2 HG00597.hp1 NA18955.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0301 a0001c0001t0002g0314 a0001c0001t0005g0312 a0001c0001t0002g0301 a0001c0001t0002g0314 a0001c0001t0005g0312	3	338	0.0089	23	c.221 others(42): Show c.221+20907_221+20908insTATATATATATATATATATATAT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0336 a0001c0001t0004g0336	1	338	0.0030	23	c.90- others(40): Show c.90-12276_90-12275insATATATATATATTTTTTTTTTTT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(16): Show AAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0009 a0001c0001t0008g0009	1	338	0.0030	23	c.90- others(40): Show c.90-12276_90-12275insATATATATATATATTTTTTTTTT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01952.hp2 HG01255.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0199 a0001c0001t0001g0261 a0001c0001t0001g0199 a0001c0001t0001g0261	2	338	0.0059	23	c.90- others(40): Show c.90-12276_90-12275insATATATATATATATATATATTTT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAATATAT others(16): Show AAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0046 a0001c0001t0009g0046	1	338	0.0030	23	c.90- others(40): Show c.90-12276_90-12275insATATATATATATATATATATATT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110158657	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01346.hp1 HG00642.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0242 a0001c0001t0004g0233 a0001c0001t0001g0242 a0001c0001t0004g0233	2	338	0.0059	23	c.89+ others(40): Show c.89+39589_89+39590insAAAAATATATATATATATATATA		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110158657	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0035 a0001c0001t0035	a0001c0001t0035g0329 a0001c0001t0035g0329	1	338	0.0030	23	c.89+ others(40): Show c.89+39589_89+39590insAAAAAAATATATATATATATATA		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3						chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110158658	T T	TATATATA others(16): Show TATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0063 a0001c0001t0063	a0001c0001t0063g0335 a0001c0001t0063g0335	1	338	0.0030	23	c.89+ others(40): Show c.89+39588_89+39589insTATATATATATATATATATATAT		ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3						chr4	TogoVar
ELP2_chr18_36124899_36185557	36128406	A A	AAAACACA others(16): Show AAAACACATGAAGGAATGTATATT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0240 a0001c0001t0019g0240	1	378	0.0027	23	c.-15 others(34): Show c.-1528_-1527insAAACACATGAAGGAATGTATATT		ELP2	ENSG00000134759.14	transcript	ENST00000358232.11	protein_coding					1492		chr18	TogoVar
ELSPBP1_chr19_47989632_48030154	48023529	G G	GGGAAGGA others(16): Show GGGAAGGAAGGAAGAAAGGAAGGA	intron_variant intron_variant	MODIFIER	HG01169.hp2 NA18969.hp2 NA18992.hp2 HG01169.hp2 NA18969.hp2 NA18992.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0275 a0001c0001t0001g0357 a0001c0001t0002g0193 a0001c0001t0001g0275 a0001c0001t0001g0357 a0001c0001t0002g0193	3	388	0.0077	23	c.7+ others(38): Show c.7+1195_*7+1196insGGAAGGAAGGAAGAAAGGAAGGA		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	6/6						chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48028497	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18960.hp2 NA19082.hp2 NA18952.hp2 NA18960.hp2 NA19082.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0261 a0002c0002t0001g0272 a0002c0002t0002g0211 a0002c0002t0001g0261 a0002c0002t0001g0272 a0002c0002t0002g0211	3	388	0.0077	23	c.35 others(34): Show c.3553_*3554insTTTTTTTTTTTTTTTTTTTTTTT		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding					3344		chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48029837	A A	AGAGAGAG others(16): Show AGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	1	388	0.0026	23	c.48 others(34): Show c.4893_*4894insGAGAGAGAGAGAGAGAGAGAGAG		ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding					4684		chr19	TogoVar
EMC7_chr15_34079017_34106862	34106579	T T	TCACATGG others(16): Show TCACATGGTACAATATTCAAAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(186): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01891.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02293.hp1 HG02293.hp2 HG02602.hp1 HG02602.hp2 HG02717.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG03017.hp1 HG03130.hp1 HG03491.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03942.hp2 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp1 NA18939.hp2 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18962.hp2 NA18964.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA18990.hp2 NA18991.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp2 NA19059.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp2 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19082.hp2 NA19088.hp2 NA19090.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0005 a0001c0001 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0003c0005t0001	a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(157): Show a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0321 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0002g0127 a0002c0003t0001g0249 a0003c0005t0001g0091	189	410	0.4610	23	c.-47 others(34): Show c.-4763_-4741dupCCTTTTGAATATTGTACCATGTG		EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding					4718		chr15	TogoVar
EME1_chr17_50368229_50386483	50373184	C C	CACTTCCG others(16): Show CACTTCCGGTCTCGAAAAGTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp1 HG04204.hp2 HG03669.hp1 HG04204.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	2	384	0.0052	23	c.-11 others(32): Show c.-118_-117insACTTCCGGTCTCGAAAAGTTTCT		EME1	ENSG00000154920.15	transcript	ENST00000338165.9	protein_coding					44		chr17	TogoVar
EML1_chr14_99788413_99947060	99826105	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02717.hp1 HG02602.hp1 HG02717.hp1	a0001 a0003 a0001 a0003	a0001c0003 a0003c0002 a0001c0003 a0003c0002	a0001c0003t0008 a0003c0002t0001 a0001c0003t0008 a0003c0002t0001	a0001c0003t0008g0271 a0003c0002t0001g0036 a0001c0003t0008g0271 a0003c0002t0001g0036	2	288	0.0069	23	c.68- others(40): Show c.68-24745_68-24723dupTTTTTTTTTTTTTTTTTTTTTTT		EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	1/21					INFO_REALIGN_3_PRIME	chr14	TogoVar
EML3_chr11_62597218_62617775	62602887	C C	CGCCTAGC others(16): Show CGCCTAGCACAGCGGCCGGCCTCA	frameshift_variant others(2): Show frameshift_variant stop_gained splice_region_variant	HIGH	NA19067.hp1 NA19067.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0053 a0005c0010t0001g0053	1	312	0.0032	23	c.235 others(35): Show c.2357-21_2358dupTGAGGCCGGCCGCTGTGCTAGGC	p.Val others(5): Show p.Val787fs	EML3	ENSG00000149499.12	transcript	ENST00000394773.7	protein_coding	21/22	2676/3266	2358/2691	786/896			chr11	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp2 HG01168.hp1 others(11): Show HG00673.hp1 HG01074.hp2 HG01168.hp1 HG02015.hp1 HG02300.hp1 HG03942.hp1 HG04204.hp2 NA18906.hp1 NA18951.hp1 NA18952.hp2 NA18983.hp1 NA19001.hp2 NA19087.hp2 NA19091.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0001c0001t0022 others(2): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0022 a0003c0003t0002 a0003c0003t0004	a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0218 others(11): Show a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0218 a0001c0001t0002g0231 a0001c0001t0002g0303 a0001c0001t0002g0352 a0001c0001t0005g0314 a0001c0001t0005g0320 a0001c0001t0005g0327 a0001c0001t0022g0326 a0003c0003t0002g0118 a0003c0003t0002g0243 a0003c0003t0002g0252 a0003c0003t0004g0244	14	358	0.0391	23	c.26- others(36): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTT		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42306484	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp1 NA19077.hp1 HG00423.hp1 NA19077.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0016 a0002c0002t0001 a0002c0002t0016	a0002c0002t0001g0055 a0002c0002t0016g0074 a0002c0002t0001g0055 a0002c0002t0016g0074	2	358	0.0056	23	c.196 others(42): Show c.1967+1937_1967+1959dupTTTTTTTTTTTTTTTTTTTTTTT		EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	17/22					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54762228	G G	GGTTTATC others(16): Show GGTTTATCTGATGTTTATCTGATC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA19056.hp2 NA18954.hp2 NA19056.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0036 a0001c0003t0035 a0001c0001t0036 a0001c0003t0035	a0001c0001t0036g0174 a0001c0003t0035g0173 a0001c0001t0036g0174 a0001c0003t0035g0173	2	264	0.0076	23	c.197 others(42): Show c.197+36970_197+36971insGTTTATCTGATGTTTATCTGATC		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41						chr2	TogoVar
EML6_chr2_54718662_54977025	54797164	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18993.hp1 NA18969.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0187 a0001c0001t0001g0244 a0001c0001t0001g0187 a0001c0001t0001g0244	2	264	0.0076	23	c.198 others(42): Show c.198-16065_198-16043dupAAAAAAAAAAAAAAAAAAAAAAA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54797166	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG01261.hp1 others(2): Show HG00099.hp2 HG01106.hp1 HG01261.hp1 HG02738.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0001c0002t0001 a0001c0003t0001	a0001c0001t0001g0245 a0001c0001t0005g0042 a0001c0001t0005g0043 others(2): Show a0001c0001t0001g0245 a0001c0001t0005g0042 a0001c0001t0005g0043 a0001c0002t0001g0041 a0001c0003t0001g0261	5	264	0.0189	23	c.198 others(42): Show c.198-16044_198-16043insCAAAAAAAAAAAAAAAAAAAAAA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54797167	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02145.hp2 HG04204.hp2 others(2): Show HG01175.hp1 HG02145.hp2 HG04204.hp2 NA18994.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0004 a0001c0001t0005 a0001c0001t0056 others(2): Show a0001c0001t0004 a0001c0001t0005 a0001c0001t0056 a0001c0002t0001 a0001c0010t0004	a0001c0001t0004g0029 a0001c0001t0005g0243 a0001c0001t0056g0258 others(2): Show a0001c0001t0004g0029 a0001c0001t0005g0243 a0001c0001t0056g0258 a0001c0002t0001g0236 a0001c0010t0004g0260	5	264	0.0189	23	c.198 others(42): Show c.198-16064_198-16042dupAAAAAAAAAAAAAAAAAAAAAAC		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54806612	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0061 a0001c0002t0004g0061	1	264	0.0038	23	c.198 others(40): Show c.198-6610_198-6588dupAAAAAAAAAAAAAAAAAAAAAAA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	2/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00741.hp2 HG01261.hp1 others(12): Show HG00642.hp2 HG00741.hp2 HG01261.hp1 HG01358.hp1 HG01891.hp2 HG02486.hp2 HG02622.hp1 HG02738.hp2 HG03098.hp1 HG03486.hp2 HG03492.hp2 HG04115.hp2 NA18955.hp1 NA19043.hp1 NA19056.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0014 a0001c0015 a0003c0013	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0002t0001 a0001c0002t0006 a0001c0004t0033 a0001c0006t0018 a0001c0006t0051 a0001c0014t0003 a0001c0015t0001 a0003c0013t0005	a0001c0001t0001g0202 a0001c0001t0001g0249 a0001c0001t0003g0145 others(12): Show a0001c0001t0001g0202 a0001c0001t0001g0249 a0001c0001t0003g0145 a0001c0001t0005g0231 a0001c0001t0005g0241 a0001c0002t0001g0041 a0001c0002t0006g0003 a0001c0002t0006g0017 a0001c0002t0006g0077 a0001c0004t0033g0129 a0001c0006t0018g0039 a0001c0006t0051g0038 a0001c0014t0003g0128 a0001c0015t0001g0030 a0003c0013t0005g0035	15	264	0.0568	23	c.243 others(42): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAA		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54961184	G G	GTTGTTTT others(16): Show GTTGTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03041.hp2 HG02258.hp1 HG03041.hp2	a0001 a0001	a0001c0002 a0001c0007 a0001c0002 a0001c0007	a0001c0002t0001 a0001c0007t0006 a0001c0002t0001 a0001c0007t0006	a0001c0002t0001g0235 a0001c0007t0006g0080 a0001c0002t0001g0235 a0001c0007t0006g0080	2	264	0.0076	23	c.496 others(40): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTTTT		EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	35/41					INFO_REALIGN_3_PRIME	chr2	TogoVar
EMP2_chr16_10523422_10585598	10575237	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp2 HG02293.hp2 others(1): Show HG02074.hp1 HG02074.hp2 HG02293.hp2 NA18612.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0042 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0042 a0001c0001t0124	a0001c0001t0001g0332 a0001c0001t0002g0073 a0001c0001t0042g0071 others(1): Show a0001c0001t0001g0332 a0001c0001t0002g0073 a0001c0001t0042g0071 a0001c0001t0124g0072	4	402	0.0100	23	c.-61 others(40): Show c.-61+5289_-61+5311dupAAAAAAAAAAAAAAAAAAAAAAA		EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4						chr16	TogoVar
ENOX1_chr13_43208130_43791972	43247883	A A	ATATATAT others(16): Show ATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0007 a0001c0001t0020g0007	1	188	0.0053	23	c.161 others(44): Show c.1612-11146_1612-11145insAAAAAAAAAAAAATATATATATA		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43247883	A A	ATATATAT others(16): Show ATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0066 a0001c0002t0001g0066	1	188	0.0053	23	c.161 others(44): Show c.1612-11146_1612-11145insAAAAAAAAAAAAAAAAATATATA		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	14/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43467505	T T	TATTTTAA others(16): Show TATTTTAAAATTTTAAAATTTAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02559.hp2 HG02922.hp1 others(2): Show HG02486.hp1 HG02559.hp2 HG02922.hp1 HG03471.hp1 HG03486.hp1	a0001 a0001	a0001c0003 a0001c0010 a0001c0003 a0001c0010	a0001c0003t0011 a0001c0003t0013 a0001c0010t0006 a0001c0003t0011 a0001c0003t0013 a0001c0010t0006	a0001c0003t0011g0163 a0001c0003t0011g0171 a0001c0003t0013g0093 others(2): Show a0001c0003t0011g0163 a0001c0003t0011g0171 a0001c0003t0013g0093 a0001c0003t0013g0095 a0001c0010t0006g0161	5	188	0.0266	23	c.-75 others(42): Show c.-75+16503_-75+16504insTTTAAATTTTAAAATTTTAAAAT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16						chr13	TogoVar
ENOX1_chr13_43208130_43791972	43467505	T T	TATTTTAA others(16): Show TATTTTAAAATTTTAAAATTTTAA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0094 a0001c0002t0001g0094	1	188	0.0053	23	c.-75 others(42): Show c.-75+16481_-75+16503dupTTAAAATTTTAAAATTTTAAAAT		ENOX1	ENSG00000120658.14	transcript	ENST00000690772.1	protein_coding	3/16						chr13	TogoVar
ENPP3_chr6_131632302_131752410	131641799	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18945.hp1 NA18952.hp1 others(3): Show NA18941.hp2 NA18945.hp1 NA18952.hp1 NA18981.hp1 NA18989.hp1 NA19060.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0010 a0001c0001 a0001c0002 a0001c0010	a0001c0001t0001 a0001c0002t0001 a0001c0010t0001 a0001c0001t0001 a0001c0002t0001 a0001c0010t0001	a0001c0001t0001g0036 a0001c0002t0001g0067 a0001c0002t0001g0069 others(3): Show a0001c0001t0001g0036 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0010t0001g0068	6	278	0.0216	23	c.154 others(38): Show c.154+271_154+293dupTTTTTTTTTTTTTTTTTTTTTTT		ENPP3	ENSG00000154269.15	transcript	ENST00000357639.8	protein_coding	2/24					INFO_REALIGN_3_PRIME	chr6	TogoVar
ENPP6_chr4_184083706_184222873	184220398	A A	AGATGGGA others(16): Show AGATGGGAAGAAGGGAAAGGGAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp2 HG03471.hp1 NA19030.hp1 others(1): Show HG02074.hp2 HG03471.hp1 NA19030.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0001c0002t0013 a0002c0001t0001 a0001c0002t0002 a0001c0002t0013 a0002c0001t0001	a0001c0002t0002g0092 a0001c0002t0013g0043 a0002c0001t0001g0131 others(1): Show a0001c0002t0002g0092 a0001c0002t0013g0043 a0002c0001t0001g0131 a0002c0001t0001g0314	4	320	0.0125	23	c.-26 others(34): Show c.-2602_-2580dupCCTCCCTTTCCCTTCTTCCCATC		ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding					2526		chr4	TogoVar
ENTPD1_chr10_95751163_95882266	95758002	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0311 a0001c0001t0001g0311	1	340	0.0029	23	c.16+ others(38): Show c.16+1753_16+1775dupAAAAAAAAAAAAAAAAAAAAAAA		ENTPD1	ENSG00000138185.20	transcript	ENST00000371205.5	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr10	TogoVar
ENTPD4_chr8_23424162_23462647	23427124	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 NA18522.hp1 HG01255.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0012 a0001c0003t0001g0004 a0001c0001t0001g0012 a0001c0003t0001g0004	2	412	0.0049	23	c.57 others(34): Show c.5779_*5801dupTTTTTTTTTTTTTTTTTTTTTTT		ENTPD4	ENSG00000197217.13	transcript	ENST00000358689.9	protein_coding					2037		chr8	TogoVar
ENTREP2_chr15_29115252_29575979	29571044	A A	ACCGGGCG others(16): Show ACCGGGCGCGAGCCGCTGCCGTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0039 a0001c0039	a0001c0039t0038 a0001c0039t0038	a0001c0039t0038g0049 a0001c0039t0038g0049	1	125	0.0080	23	c.-32 others(32): Show c.-322_-321insGGACGGCAGCGGCTCGCGCCCGG		ENTREP2	ENSG00000104059.5	transcript	ENST00000261275.5	protein_coding					66		chr15	TogoVar
ENTREP3_chr1_155242205_155260483	155252722	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	395	0.0025	23	c.622 others(38): Show c.622-818_622-817insAAAAAAATATATATATATATATA		ENTREP3	ENSG00000160767.23	transcript	ENST00000361361.7	protein_coding	5/11						chr1	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0014 a0003c0004t0003g0014	1	400	0.0025	23	c.57 others(34): Show c.5753_*5754insAAAAAAATATATATATATATATA		EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding					4636		chr3	TogoVar
EOMES_chr3_27710953_27727323	27711316	A A	ATATATAT others(16): Show ATATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0010 a0002c0002t0002g0010	1	400	0.0025	23	c.57 others(34): Show c.5753_*5754insAAAAAAAAAAATATATATATATA		EOMES	ENSG00000163508.13	transcript	ENST00000449599.4	protein_coding					4636		chr3	TogoVar
EP300_chr22_41087592_41185077	41154376	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01261.hp2 HG03688.hp2 others(2): Show HG01099.hp2 HG01261.hp2 HG03688.hp2 HG04184.hp2 NA19065.hp1	a0001 a0002 a0001 a0002	a0001c0011 a0002c0003 a0001c0011 a0002c0003	a0001c0011t0031 a0002c0003t0001 a0001c0011t0031 a0002c0003t0001	a0001c0011t0031g0190 a0002c0003t0001g0142 a0002c0003t0001g0146 others(2): Show a0001c0011t0031g0190 a0002c0003t0001g0142 a0002c0003t0001g0146 a0002c0003t0001g0151 a0002c0003t0001g0180	5	300	0.0167	23	c.314 others(40): Show c.3143-618_3143-596dupTTTTTTTTTTTTTTTTTTTTTTT		EP300	ENSG00000100393.15	transcript	ENST00000263253.9	protein_coding	16/30					INFO_REALIGN_3_PRIME	chr22	TogoVar
EP400_chr12_131944942_132085460	132073459	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02257.hp1 HG03654.hp1 others(1): Show HG02109.hp1 HG02257.hp1 HG03654.hp1 NA19240.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0036 a0001c0058 a0002c0045 others(1): Show a0001c0036 a0001c0058 a0002c0045 a0005c0007	a0001c0036t0002 a0001c0058t0002 a0002c0045t0002 others(1): Show a0001c0036t0002 a0001c0058t0002 a0002c0045t0002 a0005c0007t0002	a0001c0036t0002g0042 a0001c0058t0002g0046 a0002c0045t0002g0192 others(1): Show a0001c0036t0002g0042 a0001c0058t0002g0046 a0002c0045t0002g0192 a0005c0007t0002g0193	4	208	0.0192	23	c.902 others(42): Show c.9022-3043_9022-3042insTTTTTTTTTTTTTTTTTTTTTTT		EP400	ENSG00000183495.15	transcript	ENST00000389561.7	protein_coding	51/52					INFO_REALIGN_3_PRIME	chr12	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTCTTT others(16): Show CTTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0182 a0001c0001t0003g0182	1	356	0.0028	23	c.705 others(40): Show c.705+1064_705+1065insAAAAAAAAAAAAAAAAAAAGAAA		EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19						chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0314 a0001c0001t0001g0314	1	356	0.0028	23	c.705 others(40): Show c.705+1042_705+1064dupAAAAAAAAAAAAAAAAAAAAAAA		EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19						chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130972937	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 NA19081.hp2 HG02486.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0160 a0001c0001t0003g0200 a0001c0001t0003g0160 a0001c0001t0003g0200	2	356	0.0056	23	c.-14 others(42): Show c.-14-16461_-14-16439dupTTTTTTTTTTTTTTTTTTTTTTT		EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19						chr6	TogoVar
EPB41L4A_chr5_112157619_112424277	112314505	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0181	1	228	0.0044	23	c.100 others(40): Show c.100-7038_100-7016dupTTTTTTTTTTTTTTTTTTTTTTT		EPB41L4A	ENSG00000129595.14	transcript	ENST00000261486.6	protein_coding	1/22						chr5	TogoVar
EPB41L4B_chr9_109166974_109326059	109288722	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18955.hp1 NA19004.hp1 NA18747.hp2 NA18955.hp1 NA19004.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0002c0003 a0003c0007 a0001c0002 a0002c0003 a0003c0007	a0001c0002t0072 a0002c0003t0008 a0003c0007t0004 a0001c0002t0072 a0002c0003t0008 a0003c0007t0004	a0001c0002t0072g0313 a0002c0003t0008g0044 a0003c0007t0004g0021 a0001c0002t0072g0313 a0002c0003t0008g0044 a0003c0007t0004g0021	3	318	0.0094	23	c.307 others(40): Show c.307-8824_307-8802dupTTTTTTTTTTTTTTTTTTTTTTT		EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25						chr9	TogoVar
EPB41L5_chr2_120008077_120184119	120098156	T T	TGTGTGTG others(16): Show TGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0233 a0002c0002t0001g0233	1	278	0.0036	23	c.117 others(42): Show c.1179-2088_1179-2087insGTGTGTGTGTGTGTGTGTGTGTG		EPB41L5	ENSG00000115109.14	transcript	ENST00000263713.10	protein_coding	14/24						chr2	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(16): Show ACACACACACACACACACACCCCC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	1	312	0.0032	23	c.-8+ others(40): Show c.-8+20700_-8+20701insACACACACACACACACACCCCCC		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935467	A A	ACACACAC others(16): Show ACACACACACACACACACCCCCCC	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG03831.hp1 HG01978.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0040 a0001c0001t0001g0006 a0001c0001t0001g0040	2	312	0.0064	23	c.-8+ others(40): Show c.-8+20700_-8+20701insACACACACACACACACCCCCCCC		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28935468	C C	CACACACA others(16): Show CACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02071.hp1 NA19090.hp1 HG02071.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0029 a0001c0001t0002g0183 a0001c0001t0001g0029 a0001c0001t0002g0183	2	312	0.0064	23	c.-8+ others(40): Show c.-8+20700_-8+20701insACACACACACACACACACACACA		EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20						chr1	TogoVar
EPC1_chr10_32262751_32352158	32290505	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG03471.hp2 HG02055.hp2 HG03471.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0036 a0001c0005t0001g0038 a0001c0005t0001g0036 a0001c0005t0001g0038	2	318	0.0063	23	c.975 others(38): Show c.975+657_975+658insCTTTCTTTTTTTTTTTTTTTTTT		EPC1	ENSG00000120616.16	transcript	ENST00000319778.11	protein_coding	6/13						chr10	TogoVar

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