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
ELMO1_chr7_36847906_37453864	37161905	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0055 a0001c0001t0009g0055	1	92	0.0109	36	c.108 others(57): Show c.1087-28672_1087-28671insATATATATATATATATATATATAT ATATATATATAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGCGGTG others(29): Show GGGCGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 NA18943.hp1 HG01070.hp2 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0078 a0001c0001t0003g0041 a0001c0001t0001g0078 a0001c0001t0003g0041	2	312	0.0064	36	c.-47 others(47): Show c.-4772_-4771insACACACACACACACACACACACACACACACACCG CC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(29): Show GGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18960.hp2 NA19074.hp2 NA18960.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0047 a0001c0001t0004g0240 a0001c0001t0003g0047 a0001c0001t0004g0240	2	312	0.0064	36	c.-47 others(47): Show c.-4772_-4771insACACACACACACACACACACACACACACACCCGC CC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGGG others(29): Show GGGGGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0005 a0001c0001t0005g0005	1	312	0.0032	36	c.-47 others(47): Show c.-4772_-4771insACACACACACACACACACACACACACCCGCCCCC CC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGGTGTG others(29): Show CGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 NA18955.hp2 NA18973.hp1 HG03486.hp1 NA18955.hp2 NA18973.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0006 a0001c0001 a0003c0006	a0001c0001t0003 a0003c0006t0001 a0001c0001t0003 a0003c0006t0001	a0001c0001t0003g0002 a0001c0001t0003g0112 a0003c0006t0001g0098 a0001c0001t0003g0002 a0001c0001t0003g0112 a0003c0006t0001g0098	3	312	0.0096	36	c.-47 others(47): Show c.-4774_-4773insACACACACACACACACACACACACACACACACAC CC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar
ELOVL2_chr6_10975759_11049305	11043467	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01258.hp1 HG02074.hp2 others(5): Show HG01257.hp1 HG01258.hp1 HG02074.hp2 NA18946.hp2 NA19011.hp2 NA19057.hp1 NA19065.hp1 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0001 a0001c0001t0007	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0007g0009	8	380	0.0211	36	c.3+7 others(47): Show c.3+760_3+761insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110084344	G G	GATATATG others(29): Show GATATATGATATATATCGCATATATGATATATATCGC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00735.hp2 HG00738.hp1 others(91): Show HG00558.hp2 HG00735.hp2 HG00738.hp1 HG01168.hp2 HG01169.hp1 HG01261.hp2 HG01358.hp2 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp2 HG01981.hp1 HG02040.hp1 HG02056.hp2 HG02071.hp2 HG02129.hp2 HG02132.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02523.hp1 HG02559.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03669.hp2 HG03831.hp1 HG03942.hp2 HG04184.hp2 NA18522.hp1 NA18906.hp1 NA18941.hp2 NA18943.hp2 NA18946.hp2 NA18947.hp2 NA18949.hp1 NA18951.hp1 NA18954.hp1 NA18955.hp2 NA18961.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp1 NA18982.hp2 NA18984.hp1 NA18992.hp1 NA18999.hp1 NA19003.hp1 NA19004.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp1 NA19067.hp2 NA19080.hp1 NA19085.hp1 NA19086.hp1 NA19086.hp2 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0019 a0001c0001t0021 a0001c0001t0022 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0034 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0059 a0001c0001t0062 a0001c0001t0070 a0001c0001t0073 a0001c0001t0074 a0001c0001t0077 a0001c0001t0078	a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 others(91): Show a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0127 a0001c0001t0001g0147 a0001c0001t0001g0182 a0001c0001t0001g0213 a0001c0001t0001g0226 a0001c0001t0001g0234 a0001c0001t0001g0241 a0001c0001t0001g0263 a0001c0001t0001g0275 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0002g0032 a0001c0001t0002g0061 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0142 a0001c0001t0002g0164 a0001c0001t0002g0178 a0001c0001t0002g0180 a0001c0001t0002g0189 a0001c0001t0002g0240 a0001c0001t0002g0244 a0001c0001t0002g0272 a0001c0001t0002g0286 a0001c0001t0002g0290 a0001c0001t0002g0295 a0001c0001t0002g0298 a0001c0001t0002g0302 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0314 a0001c0001t0003g0196 a0001c0001t0003g0205 a0001c0001t0003g0292 a0001c0001t0005g0134 a0001c0001t0005g0197 a0001c0001t0005g0312 a0001c0001t0006g0194 a0001c0001t0007g0013 a0001c0001t0007g0052 a0001c0001t0007g0171 a0001c0001t0007g0257 a0001c0001t0009g0019 a0001c0001t0009g0021 a0001c0001t0009g0023 a0001c0001t0011g0045 a0001c0001t0011g0047 a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0015g0227 a0001c0001t0016g0098 a0001c0001t0016g0112 a0001c0001t0016g0114 a0001c0001t0016g0177 a0001c0001t0018g0040 a0001c0001t0018g0041 a0001c0001t0018g0042 a0001c0001t0019g0124 a0001c0001t0019g0229 a0001c0001t0019g0328 a0001c0001t0021g0018 a0001c0001t0021g0069 a0001c0001t0021g0107 a0001c0001t0022g0017 a0001c0001t0025g0108 a0001c0001t0027g0254 a0001c0001t0028g0049 a0001c0001t0028g0247 a0001c0001t0034g0026 a0001c0001t0034g0043 a0001c0001t0043g0038 a0001c0001t0044g0100 a0001c0001t0045g0204 a0001c0001t0050g0039 a0001c0001t0051g0143 a0001c0001t0052g0191 a0001c0001t0053g0237 a0001c0001t0054g0284 a0001c0001t0055g0063 a0001c0001t0056g0297 a0001c0001t0057g0109 a0001c0001t0059g0024 a0001c0001t0062g0116 a0001c0001t0070g0218 a0001c0001t0073g0126 a0001c0001t0074g0015 a0001c0001t0077g0056 a0001c0001t0078g0099	94	338	0.2781	36	c.221 others(55): Show c.221+21152_221+21153insGCGATATATATCATATATGCGATATA TATCATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110084344	G G	GATATATG others(29): Show GATATATGATATATATCGCATATATGATATGTATCGC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	338	0.0030	36	c.221 others(55): Show c.221+21152_221+21153insGCGATACATATCATATATGCGATATA TATCATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	2/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117899	A A	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18942.hp2 NA18942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0288 a0001c0001t0002g0288	1	338	0.0030	36	c.90- others(53): Show c.90-12272_90-12271insATATATATATATATATATATATATATAT ATATATAT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	338	0.0030	36	c.90- others(53): Show c.90-12276_90-12275insATATATATATATATATATATATATATAT TTTTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAATA others(29): Show AAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp2 HG02258.hp1 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0052 a0001c0001t0007g0171 a0001c0001t0007g0052 a0001c0001t0007g0171	2	338	0.0059	36	c.90- others(53): Show c.90-12276_90-12275insATATATATATATATATATATATATATAT ATATTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELSPBP1_chr19_47989632_48030154	48023447	A A	AAAGGGAG others(29): Show AAAGGGAGGAGGGAAGGAATGGAGGAAGGGAGGAGGG	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01891.hp2 HG02965.hp1 others(3): Show HG01167.hp2 HG01891.hp2 HG02965.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2	a0002 a0006 a0011 a0002 a0006 a0011	a0002c0002 a0006c0006 a0011c0010 a0002c0002 a0006c0006 a0011c0010	a0002c0002t0001 a0006c0006t0001 a0006c0006t0002 others(2): Show a0002c0002t0001 a0006c0006t0001 a0006c0006t0002 a0011c0010t0001 a0011c0010t0002	a0002c0002t0001g0313 a0006c0006t0001g0002 a0006c0006t0001g0341 others(3): Show a0002c0002t0001g0313 a0006c0006t0001g0002 a0006c0006t0001g0341 a0006c0006t0002g0137 a0011c0010t0001g0342 a0011c0010t0002g0144	6	388	0.0155	36	c.7+ others(51): Show c.7+1122_*7+1157dupAGGGAAGGAATGGAGGAAGGGAGGAGGGAA GGGAGG	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding	6/6		INFO_REALIGN_3_PRIME	chr19	TogoVar
ELSPBP1_chr19_47989632_48030154	48028497	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0340 a0002c0002t0001g0340	1	388	0.0026	36	c.35 others(47): Show c.3553_*3554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		3344		chr19	TogoVar
EMC10_chr19_50471507_50495871	50492036	C C	CGGGGAGA others(29): Show CGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0015 a0001c0002t0060g0015	1	352	0.0028	36	c.97 others(47): Show c.9777_*9778insGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		1166		chr19	TogoVar
EMC10_chr19_50471507_50495871	50492039	G G	GGAGAGAG others(29): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0003 a0001c0002t0007g0003	1	352	0.0028	36	c.97 others(47): Show c.9780_*9781insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		1169		chr19	TogoVar
EMC2_chr8_108438624_108494196	108443350	A A	AACACACA others(29): Show AACACACACACACACACACACACACACCCCCACACCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG03453.hp2 HG02896.hp1 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0040 a0001c0001t0015g0040	2	364	0.0055	36	c.-30 others(45): Show c.-309_-308insACACACACACACACACACACACACACCCCCACACCC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		273		chr8	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(29): Show CACACACACACACACATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA19063.hp1 NA18972.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0110 a0001c0001t0001g0119	2	410	0.0049	36	c.356 others(53): Show c.356+2088_356+2089insATATATATATATATATATATATGTGTGT GTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(29): Show CACACACACACACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp2 HG02083.hp1 HG01975.hp1 HG01975.hp2 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0144 a0001c0001t0001g0171 a0001c0001t0001g0100 a0001c0001t0001g0144 a0001c0001t0001g0171	3	410	0.0073	36	c.356 others(53): Show c.356+2088_356+2089insATATATATATATATATATATATATGTGT GTGTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMCN_chr4_100390341_100523022	100448795	T T	TTTTCTTT others(29): Show TTTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02896.hp2 HG01891.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0028 a0001c0001t0004 a0001c0001t0028	a0001c0001t0004g0252 a0001c0001t0028g0175 a0001c0001t0004g0252 a0001c0001t0028g0175	2	262	0.0076	36	c.377 others(53): Show c.377-1225_377-1224insGAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAAGAAA	EMCN	ENSG00000164035.10	transcript	ENST00000296420.9	protein_coding	4/11			chr4	TogoVar
EMILIN2_chr18_2842006_2921003	2858583	G G	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0235 a0001c0001t0005g0235	1	452	0.0022	36	c.257 others(55): Show c.257+10653_257+10654insGTGTGTGTGTGTGTGTGTGTGTATAT ATATATATAT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML1_chr14_99788413_99947060	99928083	A A	ATGGTGGT others(29): Show ATGGTGGTGGGGGTGGGGGTGGGGGTGGTGGTGGTAT	intron_variant intron_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0002 a0003c0002t0002	a0003c0002t0002g0050 a0003c0002t0002g0050	1	288	0.0035	36	c.190 others(55): Show c.1909+7211_1909+7212insGTGGGGGTGGGGGTGGGGGTGGTGGT GGTATTGGTG	EML1	ENSG00000066629.19	transcript	ENST00000262233.11	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr14	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02809.hp1 HG02809.hp2 others(2): Show HG01109.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp1 HG03834.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0002 a0001c0001t0006 a0002c0002t0008 others(1): Show a0001c0001t0002 a0001c0001t0006 a0002c0002t0008 a0003c0003t0002	a0001c0001t0002g0207 a0001c0001t0002g0234 a0001c0001t0006g0209 others(2): Show a0001c0001t0002g0207 a0001c0001t0002g0234 a0001c0001t0006g0209 a0002c0002t0008g0085 a0003c0003t0002g0286	5	358	0.0140	36	c.26- others(49): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	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(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0054 a0002c0002t0001g0054	1	358	0.0028	36	c.196 others(55): Show c.1967+1959_1967+1960insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	17/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML4_chr2_42164353_42337548	42325602	T T	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0244 a0003c0003t0004g0244	1	358	0.0028	36	c.224 others(51): Show c.2242+50_2242+85dupATATATATATATATATATATATATATATAT ATATAT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML5_chr14_88607431_88797953	88796165	A A	ATATATAT others(29): Show ATATATATATTATATATATATTATATGTTATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG02258.hp2 HG01243.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0003 a0001c0001t0007	a0001c0001t0003g0083 a0001c0001t0007g0062 a0001c0001t0003g0083 a0001c0001t0007g0062	2	332	0.0060	36	c.-36 others(47): Show c.-3663_-3662insATATATATAACATATAATATATATATAATATATA TA	EML5	ENSG00000165521.16	transcript	ENST00000554922.6	protein_coding		3213		chr14	TogoVar
EML6_chr2_54718662_54977025	54823850	T T	TTCTCTCT others(29): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0214 a0001c0002t0001g0214	1	264	0.0038	36	c.525 others(53): Show c.525+3415_525+3416insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCT	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	5/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882857	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0009 a0001c0003t0009	a0001c0003t0009g0111 a0001c0003t0009g0111	1	264	0.0038	36	c.243 others(55): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAA	EML6	ENSG00000214595.13	transcript	ENST00000356458.8	protein_coding	17/41		INFO_REALIGN_3_PRIME	chr2	TogoVar
EML6_chr2_54718662_54977025	54882873	A A	AAAAAAAA others(29): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG03492.hp1 NA20905.hp2 HG03492.hp1 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0020 a0001c0002t0003 a0001c0002t0020	a0001c0002t0003g0125 a0001c0002t0020g0163 a0001c0002t0003g0125 a0001c0002t0020g0163	2	264	0.0076	36	c.243 others(55): Show c.2438+3234_2438+3235insAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAGA	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(29): Show GTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0089 a0001c0005t0006g0089	1	264	0.0038	36	c.496 others(53): Show c.4968+852_4968+853insGTTTTTTTTTTTTTTTTTTTTTTTTTTT TGTTTTTT	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(29): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	402	0.0025	36	c.-61 others(53): Show c.-61+5311_-61+5312insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	EMP2	ENSG00000213853.10	transcript	ENST00000359543.8	protein_coding	1/4			chr16	TogoVar
ENDOD1_chr11_95084846_95137645	95135555	C C	CCAGGCTG others(29): Show CCAGGCTGGAGTACAGTGGCGTGATCTCAGCTCACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(324): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18964.hp1 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp1 NA19082.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0007 a0001c0009 others(9): Show a0001c0001 a0001c0007 a0001c0009 a0001c0011 a0002c0002 a0003c0003 a0003c0008 a0004c0004 a0005c0005 a0006c0006 a0007c0012 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0021 a0001c0007t0009 a0001c0009t0001 a0001c0011t0001 a0002c0002t0002 a0002c0002t0013 a0002c0002t0024 a0002c0002t0027 a0002c0002t0028 a0003c0003t0003 a0003c0003t0017 a0003c0003t0020 a0003c0008t0003 a0004c0004t0005 a0004c0004t0022 a0004c0004t0023 a0005c0005t0001 a0005c0005t0014 a0006c0006t0011 a0007c0012t0001 a0008c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(287): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0097 a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0130 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0166 a0001c0001t0001g0168 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0207 a0001c0001t0001g0218 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0305 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0002g0047 a0001c0001t0002g0288 a0001c0001t0003g0006 a0001c0001t0003g0052 a0001c0001t0003g0060 a0001c0001t0003g0101 a0001c0001t0003g0299 a0001c0001t0003g0303 a0001c0001t0003g0308 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0004g0008 a0001c0001t0004g0025 a0001c0001t0004g0077 a0001c0001t0004g0085 a0001c0001t0004g0110 a0001c0001t0004g0115 a0001c0001t0004g0117 a0001c0001t0004g0149 a0001c0001t0004g0150 a0001c0001t0004g0173 a0001c0001t0004g0179 a0001c0001t0004g0183 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0197 a0001c0001t0004g0198 a0001c0001t0004g0199 a0001c0001t0004g0217 a0001c0001t0004g0220 a0001c0001t0004g0235 a0001c0001t0004g0250 a0001c0001t0004g0251 a0001c0001t0004g0283 a0001c0001t0004g0289 a0001c0001t0004g0290 a0001c0001t0004g0292 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0301 a0001c0001t0005g0009 a0001c0001t0005g0015 a0001c0001t0005g0028 a0001c0001t0005g0029 a0001c0001t0005g0090 a0001c0001t0005g0091 a0001c0001t0006g0180 a0001c0001t0006g0181 a0001c0001t0006g0182 a0001c0001t0006g0188 a0001c0001t0006g0206 a0001c0001t0006g0208 a0001c0001t0006g0209 a0001c0001t0006g0210 a0001c0001t0006g0300 a0001c0001t0007g0017 a0001c0001t0007g0081 a0001c0001t0007g0082 a0001c0001t0007g0203 a0001c0001t0007g0302 a0001c0001t0007g0306 a0001c0001t0007g0307 a0001c0001t0008g0202 a0001c0001t0008g0236 a0001c0001t0008g0245 a0001c0001t0008g0258 a0001c0001t0008g0280 a0001c0001t0008g0281 a0001c0001t0009g0019 a0001c0001t0009g0094 a0001c0001t0010g0013 a0001c0001t0010g0177 a0001c0001t0012g0084 a0001c0001t0012g0086 a0001c0001t0015g0061 a0001c0001t0016g0002 a0001c0001t0018g0272 a0001c0001t0021g0058 a0001c0007t0009g0227 a0001c0007t0009g0228 a0001c0009t0001g0274 a0001c0011t0001g0169 a0002c0002t0002g0004 a0002c0002t0002g0014 a0002c0002t0002g0016 a0002c0002t0002g0022 a0002c0002t0002g0023 a0002c0002t0002g0026 a0002c0002t0002g0046 a0002c0002t0002g0049 a0002c0002t0002g0063 a0002c0002t0002g0068 a0002c0002t0002g0069 a0002c0002t0002g0075 a0002c0002t0002g0078 a0002c0002t0002g0095 a0002c0002t0002g0102 a0002c0002t0002g0104 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0119 a0002c0002t0002g0123 a0002c0002t0002g0126 a0002c0002t0002g0129 a0002c0002t0002g0137 a0002c0002t0002g0148 a0002c0002t0002g0159 a0002c0002t0002g0163 a0002c0002t0002g0165 a0002c0002t0002g0167 a0002c0002t0002g0171 a0002c0002t0002g0172 a0002c0002t0002g0192 a0002c0002t0002g0193 a0002c0002t0002g0196 a0002c0002t0002g0205 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0216 a0002c0002t0002g0224 a0002c0002t0002g0225 a0002c0002t0002g0232 a0002c0002t0002g0237 a0002c0002t0002g0259 a0002c0002t0002g0263 a0002c0002t0002g0267 a0002c0002t0002g0268 a0002c0002t0002g0271 a0002c0002t0002g0277 a0002c0002t0002g0278 a0002c0002t0002g0279 a0002c0002t0002g0287 a0002c0002t0002g0296 a0002c0002t0002g0315 a0002c0002t0002g0316 a0002c0002t0002g0317 a0002c0002t0002g0318 a0002c0002t0002g0319 a0002c0002t0002g0321 a0002c0002t0002g0322 a0002c0002t0002g0324 a0002c0002t0013g0269 a0002c0002t0024g0233 a0002c0002t0027g0053 a0002c0002t0028g0004 a0003c0003t0003g0003 a0003c0003t0003g0018 a0003c0003t0003g0062 a0003c0003t0003g0064 a0003c0003t0003g0065 a0003c0003t0003g0066 a0003c0003t0003g0067 a0003c0003t0003g0070 a0003c0003t0003g0071 a0003c0003t0003g0072 a0003c0003t0003g0073 a0003c0003t0003g0074 a0003c0003t0003g0076 a0003c0003t0003g0131 a0003c0003t0003g0170 a0003c0003t0003g0191 a0003c0003t0003g0231 a0003c0003t0003g0241 a0003c0003t0017g0242 a0003c0003t0020g0092 a0003c0008t0003g0248 a0004c0004t0005g0045 a0004c0004t0005g0050 a0004c0004t0005g0051 a0004c0004t0005g0056 a0004c0004t0005g0089 a0004c0004t0005g0112 a0004c0004t0005g0140 a0004c0004t0005g0161 a0004c0004t0005g0211 a0004c0004t0005g0270 a0004c0004t0005g0320 a0004c0004t0005g0323 a0004c0004t0022g0160 a0004c0004t0023g0215 a0005c0005t0001g0031 a0005c0005t0001g0054 a0005c0005t0001g0080 a0005c0005t0014g0030 a0006c0006t0011g0201 a0006c0006t0011g0298 a0007c0012t0001g0204 a0008c0010t0001g0261	327	368	0.8886	36	c.59 others(47): Show c.5976_*5977insCAGGCTGGAGTACAGTGGCGTGATCTCAGCTCAC TG	ENDOD1	ENSG00000149218.5	transcript	ENST00000278505.5	protein_coding		2911		chr11	TogoVar
ENDOD1_chr11_95084846_95137645	95135555	C C	CCAGGCTG others(29): Show CCAGGCTGGAGTACAGTGGTGTGATCTCAGCTCACTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01070.hp2 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0010	2	368	0.0054	36	c.59 others(47): Show c.5976_*5977insCAGGCTGGAGTACAGTGGTGTGATCTCAGCTCAC TG	ENDOD1	ENSG00000149218.5	transcript	ENST00000278505.5	protein_coding		2911		chr11	TogoVar
ENOSF1_chr18_665318_717630	667017	A A	AGATGGTG others(29): Show AGATGGTGATGGAGATGGTGATGGAGATGGTGATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0274	1	418	0.0024	36	c.72 others(47): Show c.7287_*7288insACCATCACCATCTCCATCACCATCTCCATCACCA TC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		3300		chr18	TogoVar
ENOSF1_chr18_665318_717630	667571	A A	AGATGGTG others(29): Show AGATGGTGATGGTGATGGTGATGGAGATGGTGATGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0002 a0002	a0002c0015 a0002c0015	a0002c0015t0002 a0002c0015t0002	a0002c0015t0002g0260 a0002c0015t0002g0260	1	418	0.0024	36	c.67 others(47): Show c.6733_*6734insACCATCACCATCTCCATCACCATCACCATCACCA TC	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding		2746		chr18	TogoVar
ENOSF1_chr18_665318_717630	712349	G G	GCCGCGCT others(29): Show GCCGCGCTTACCATGGCGTCCGCGCTTACCATGGCGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG01106.hp1 HG01109.hp1 others(19): Show HG00408.hp2 HG01106.hp1 HG01109.hp1 HG01928.hp1 HG01981.hp2 HG02040.hp2 HG02080.hp1 HG02148.hp1 HG03017.hp1 HG03139.hp2 HG03225.hp1 HG03491.hp1 HG03492.hp1 HG03579.hp2 NA18959.hp1 NA18995.hp2 NA18999.hp1 NA19002.hp2 NA19062.hp2 NA19065.hp1 NA19240.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0017 a0001c0001t0020 a0002c0002t0002 a0002c0002t0004 a0002c0002t0005 a0002c0005t0001	a0001c0001t0001g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 others(19): Show a0001c0001t0001g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0006g0207 a0001c0001t0012g0192 a0001c0001t0017g0205 a0001c0001t0020g0191 a0002c0002t0002g0193 a0002c0002t0004g0211 a0002c0002t0005g0212 a0002c0005t0001g0209 a0002c0005t0001g0210	22	418	0.0526	36	c.84+ others(49): Show c.84+154_84+155insACGCCATGGTAAGCGCGGACGCCATGGTAAGC GCGG	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	1/15			chr18	TogoVar
ENOSF1_chr18_665318_717630	712356	G G	GTACCATG others(29): Show GTACCATGGCGTCCGCGCTTACCATGGCGTCCGCGCT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00738.hp2 HG01070.hp1 others(9): Show HG00558.hp2 HG00738.hp2 HG01070.hp1 HG01071.hp1 HG02055.hp1 HG02630.hp2 HG03490.hp1 HG06807.hp1 NA18972.hp1 NA18986.hp1 NA19054.hp2 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0010 a0001c0003t0001 a0001c0006t0004	a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0220 others(9): Show a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0008g0216 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0010g0223 a0001c0001t0010g0224 a0001c0003t0001g0214 a0001c0006t0004g0213	12	418	0.0287	36	c.84+ others(49): Show c.84+112_84+147dupAGCGCGGACGCCATGGTAAGCGCGGACGCCAT GGTA	ENOSF1	ENSG00000132199.20	transcript	ENST00000647584.2	protein_coding	1/15			chr18	TogoVar
ENPP6_chr4_184083706_184222873	184131259	T T	TTTCTCTT others(29): Show TTTCTCTTTCTTTCTTTCTTTCCTTCTTTCTTCCTTC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0167 a0001c0003t0014g0167	1	320	0.0031	36	c.422 others(53): Show c.422-6988_422-6987insGAAGGAAGAAAGAAGGAAAGAAAGAAAG AAAGAGAA	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	2/7			chr4	TogoVar
ENPP6_chr4_184083706_184222873	184162547	A A	AGAAGGAG others(29): Show AGAAGGAGGGAGGGAAGGAGGGAAGGAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03209.hp2 HG02809.hp2 HG03209.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0078 a0001c0002t0008g0129 a0001c0002t0001g0078 a0001c0002t0008g0129	2	320	0.0063	36	c.242 others(53): Show c.242-8815_242-8814insCTTCCTTTCTTCCTTCCCTCCTTCCCTC CCTCCTTC	ENPP6	ENSG00000164303.11	transcript	ENST00000296741.7	protein_coding	1/7			chr4	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(29): Show CATATATATATATATACATATATACACATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00621.hp2 HG00673.hp2 others(15): Show HG00099.hp1 HG00621.hp2 HG00673.hp2 HG01106.hp1 HG01358.hp2 HG02040.hp1 HG02074.hp1 HG02080.hp2 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG03490.hp2 HG03942.hp2 NA18612.hp1 NA18612.hp2 NA18982.hp2 NA19079.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0008 a0002c0001 a0002c0021 a0001c0008 a0002c0001 a0002c0021	a0001c0008t0001 a0002c0001t0001 a0002c0001t0002 others(1): Show a0001c0008t0001 a0002c0001t0001 a0002c0001t0002 a0002c0021t0001	a0001c0008t0001g0143 a0002c0001t0001g0010 a0002c0001t0001g0025 others(9): Show a0001c0008t0001g0143 a0002c0001t0001g0010 a0002c0001t0001g0025 a0002c0001t0001g0034 a0002c0001t0001g0051 a0002c0001t0001g0140 a0002c0001t0001g0141 a0002c0001t0001g0142 a0002c0001t0001g0144 a0002c0001t0002g0010 a0002c0001t0002g0034 a0002c0021t0001g0010	18	430	0.0419	36	c.253 others(51): Show c.253+739_253+740insATATACATATATACACATATATATATATAT ATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENPP7_chr17_79725943_79747219	79732121	C C	CATATATA others(29): Show CATATATATATATATACATATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0009 a0009	a0009c0022 a0009c0022	a0009c0022t0001 a0009c0022t0001	a0009c0022t0001g0187 a0009c0022t0001g0187	1	430	0.0023	36	c.253 others(51): Show c.253+739_253+740insATATACATATATACATATATATATATATAT ATATAT	ENPP7	ENSG00000182156.10	transcript	ENST00000328313.10	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr17	TogoVar
ENTHD1_chr22_39738044_39898760	39770762	A A	ACTTGGAT others(29): Show ACTTGGATGCAAGTAATTTGCCTGTACCCATGATATC	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	218	0.0046	36	c.833 others(53): Show c.833-5189_833-5154dupGATATCATGGGTACAGGCAAATTACTTG CATCCAAG	ENTHD1	ENSG00000176177.10	transcript	ENST00000325157.7	protein_coding	5/6			chr22	TogoVar
ENTREP1_chr9_69320215_69397456	69340697	G G	GTGTGTGT others(29): Show GTGTGTGTATGTGTGTGTGCATGCATGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03927.hp2 HG01123.hp1 HG03927.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0008 a0001c0001 a0003c0008	a0001c0001t0002 a0003c0008t0001 a0001c0001t0002 a0003c0008t0001	a0001c0001t0002g0221 a0003c0008t0001g0278 a0001c0001t0002g0221 a0003c0008t0001g0278	2	342	0.0059	36	c.471 others(53): Show c.471+4435_471+4436insATGTGTGTGTGCATGCATGTGTGTGTGT ATGTGTGT	ENTREP1	ENSG00000135063.20	transcript	ENST00000303068.14	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr9	TogoVar
EPB41L2_chr6_130834347_131068245	130954040	C C	CTTTCTTT others(29): Show CTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0178 a0001c0001t0003g0178	1	356	0.0028	36	c.705 others(53): Show c.705+1064_705+1065insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAGAAA	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	3/19			chr6	TogoVar
EPB41L2_chr6_130834347_131068245	130972937	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA19012.hp1 HG02056.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0175 a0001c0001t0003g0186 a0001c0001t0003g0175 a0001c0001t0003g0186	2	356	0.0056	36	c.-14 others(55): Show c.-14-16439_-14-16438insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTT	EPB41L2	ENSG00000079819.20	transcript	ENST00000337057.8	protein_coding	1/19			chr6	TogoVar
EPB41L3_chr18_5387386_5548997	5499829	G G	GTGTGTAT others(29): Show GTGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0078 a0002c0003t0003g0078	1	222	0.0045	36	c.-11 others(55): Show c.-11-10636_-11-10635insTATATATATATATATATATATATATA TATATACACA	EPB41L3	ENSG00000082397.18	transcript	ENST00000341928.7	protein_coding	1/22			chr18	TogoVar
EPB41L4B_chr9_109166974_109326059	109288722	C C	CAAAAAAA others(29): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0025 a0002c0005t0025	a0002c0005t0025g0247 a0002c0005t0025g0247	1	318	0.0031	36	c.307 others(53): Show c.307-8802_307-8801insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	EPB41L4B	ENSG00000095203.15	transcript	ENST00000374566.8	protein_coding	1/25			chr9	TogoVar
EPB41_chr1_28909569_29125041	28935438	A A	AACACACA others(29): Show AACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02135.hp1 HG03927.hp2 others(2): Show HG01934.hp1 HG02135.hp1 HG03927.hp2 HG06807.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0135 a0001c0001t0002g0124 a0001c0001t0002g0168 others(2): Show a0001c0001t0001g0135 a0001c0001t0002g0124 a0001c0001t0002g0168 a0001c0001t0002g0221 a0001c0001t0011g0146	5	312	0.0160	36	c.-8+ others(53): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACAC	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(29): Show ACACACACACACACACACACACACACACACACACACC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG02698.hp1 HG01167.hp1 HG01169.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0149 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0149	3	312	0.0096	36	c.-8+ others(53): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACACCC	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(29): Show ACACACACACACACACACACACACACACACACACCCC	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	312	0.0032	36	c.-8+ others(53): Show c.-8+20700_-8+20701insACACACACACACACACACACACACACAC ACACCCCC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
EPB41_chr1_28909569_29125041	28990296	T T	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCTTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01069.hp1 HG01071.hp1 others(8): Show HG00280.hp2 HG01069.hp1 HG01071.hp1 HG01358.hp2 HG02055.hp1 HG02896.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 NA19240.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0003 a0001c0002t0007 others(1): Show a0001c0001t0005 a0001c0002t0003 a0001c0002t0007 a0001c0002t0036	a0001c0001t0005g0194 a0001c0002t0003g0208 a0001c0002t0003g0209 others(8): Show a0001c0001t0005g0194 a0001c0002t0003g0208 a0001c0002t0003g0209 a0001c0002t0003g0210 a0001c0002t0003g0211 a0001c0002t0003g0225 a0001c0002t0003g0227 a0001c0002t0007g0201 a0001c0002t0007g0202 a0001c0002t0007g0206 a0001c0002t0036g0305	11	312	0.0353	36	c.468 others(53): Show c.468+2410_468+2411insTTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTC	EPB41	ENSG00000159023.23	transcript	ENST00000343067.9	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar

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