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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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
ERG_chr21_38375036_38503477	38466300	G G	GGTGTGTG others(8): Show GGTGTGTGGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	360	0.0028	15	c.19- others(32): Show c.19-20680_19-20679insACACACACCACACAC	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	1/9			chr21	TogoVar
ERG_chr21_38375036_38503477	38466300	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	360	0.0028	15	c.19- others(32): Show c.19-20680_19-20679insACACACACACACACA	ERG	ENSG00000157554.20	transcript	ENST00000288319.12	protein_coding	1/9			chr21	TogoVar
ERH_chr14_69375128_69403299	69382789	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0053 a0001c0001t0002g0053	1	398	0.0025	15	c.213 others(32): Show c.213-2150_213-2149insTTTTTTTTTTTTTTT	ERH	ENSG00000100632.11	transcript	ENST00000557016.6	protein_coding	3/3			chr14	TogoVar
ERI1_chr8_8997897_9038338	9015722	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03139.hp2 HG01884.hp1 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0058 a0001c0002t0014 a0001c0002t0058	a0001c0002t0014g0098 a0001c0002t0058g0082 a0001c0002t0014g0098 a0001c0002t0058g0082	2	426	0.0047	15	c.499 others(30): Show c.499-595_499-581dupAAAAAAAAAAAAAAA	ERI1	ENSG00000104626.15	transcript	ENST00000250263.8	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERI3_chr1_44216070_44360257	44259724	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	340	0.0029	15	c.832 others(34): Show c.832-11687_832-11686insGTGTGTGTGTGTGTG	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	7/8			chr1	TogoVar
ERI3_chr1_44216070_44360257	44272841	A A	AAAAATAA others(8): Show AAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0328 a0001c0001t0001g0328	1	340	0.0029	15	c.831 others(34): Show c.831+11979_831+11993dupATTTTATTTTATTTT	ERI3	ENSG00000117419.16	transcript	ENST00000372257.7	protein_coding	7/8			chr1	TogoVar
ERICH1_chr8_659200_736224	708681	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0253 a0001c0001t0002g0253	1	378	0.0027	15	c.169 others(32): Show c.169+7165_169+7179dupAAAAAAAAAAAAAAA	ERICH1	ENSG00000104714.14	transcript	ENST00000262109.8	protein_coding	2/5			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98075785	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01106.hp2 HG02056.hp1 others(16): Show HG00673.hp1 HG01106.hp2 HG02056.hp1 HG02074.hp1 HG02451.hp1 HG02630.hp2 HG02723.hp1 HG03239.hp2 HG04228.hp2 NA18943.hp1 NA18968.hp1 NA18979.hp2 NA18981.hp2 NA18982.hp2 NA18985.hp1 NA18986.hp2 NA18990.hp1 NA19009.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0131 a0001c0001t0001g0156 a0001c0001t0001g0320 others(16): Show a0001c0001t0001g0131 a0001c0001t0001g0156 a0001c0001t0001g0320 a0001c0001t0001g0387 a0001c0001t0001g0395 a0001c0001t0001g0401 a0001c0001t0001g0402 a0001c0001t0001g0404 a0001c0001t0002g0133 a0001c0001t0002g0376 a0001c0001t0002g0381 a0001c0001t0002g0385 a0001c0001t0002g0386 a0001c0001t0002g0394 a0001c0001t0002g0397 a0001c0001t0002g0400 a0001c0001t0002g0423 a0001c0001t0002g0427 a0001c0001t0002g0433	19	442	0.0430	15	c.58+ others(32): Show c.58+11063_58+11077dupTTTTTTTTTTTTTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	1/2		INFO_REALIGN_3_PRIME	chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTCCTTT others(8): Show CTTCCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03540.hp1 HG02258.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0038 a0001c0001t0003g0031 a0001c0001t0002g0038 a0001c0001t0003g0031	2	442	0.0045	15	c.101 others(34): Show c.1013-1321_1013-1320insTTCCTTTCTTTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH5_chr8_98059568_98098609	98091900	C C	CTTTCTTT others(8): Show CTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA19002.hp2 HG02015.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0178 a0001c0001t0002g0139 a0001c0001t0001g0178 a0001c0001t0002g0139	2	442	0.0045	15	c.101 others(34): Show c.1013-1321_1013-1320insTTTCTTTCTTTCTTT	ERICH5	ENSG00000177459.11	transcript	ENST00000318528.8	protein_coding	2/2			chr8	TogoVar
ERICH6B_chr13_45536294_45620739	45606548	T T	TATATATA others(8): Show TATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0002 a0005c0033t0002	a0005c0033t0002g0291 a0005c0033t0002g0291	1	326	0.0031	15	c.-59 others(32): Show c.-59+1015_-59+1016insTATATATATATATAT	ERICH6B	ENSG00000165837.12	transcript	ENST00000298738.3	protein_coding	2/14			chr13	TogoVar
ERICH6_chr3_150654885_150708920	150658031	A A	AAATAATA others(8): Show AAATAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG01106.hp2 others(20): Show HG00408.hp1 HG00609.hp1 HG01106.hp2 HG01192.hp2 HG01884.hp1 HG01975.hp1 HG02040.hp2 HG02055.hp1 HG02559.hp1 HG02717.hp1 HG02738.hp2 HG03130.hp2 HG03209.hp2 HG03831.hp1 HG04204.hp2 NA18612.hp2 NA18906.hp2 NA18969.hp1 NA18994.hp2 NA19009.hp2 NA19043.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0004 a0006 a0011 a0026	a0001c0002 a0002c0001 a0003c0006 others(4): Show a0001c0002 a0002c0001 a0003c0006 a0004c0005 a0006c0008 a0011c0013 a0026c0033	a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 others(7): Show a0001c0002t0001 a0001c0002t0002 a0002c0001t0001 a0002c0001t0002 a0003c0006t0002 a0004c0005t0001 a0004c0005t0002 a0006c0008t0001 a0011c0013t0002 a0026c0033t0001	a0001c0002t0001g0012 a0001c0002t0002g0247 a0001c0002t0002g0282 others(20): Show a0001c0002t0001g0012 a0001c0002t0002g0247 a0001c0002t0002g0282 a0002c0001t0001g0038 a0002c0001t0001g0042 a0002c0001t0001g0050 a0002c0001t0001g0075 a0002c0001t0001g0077 a0002c0001t0001g0078 a0002c0001t0001g0087 a0002c0001t0001g0093 a0002c0001t0001g0119 a0002c0001t0001g0130 a0002c0001t0002g0036 a0003c0006t0002g0259 a0004c0005t0001g0127 a0004c0005t0002g0006 a0004c0005t0002g0103 a0004c0005t0002g0112 a0004c0005t0002g0129 a0006c0008t0001g0328 a0011c0013t0002g0312 a0026c0033t0001g0203	23	348	0.0661	15	c.18 others(26): Show c.1860_*1861insATTATTATTATTATT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding		1853		chr3	TogoVar
ERICH6_chr3_150654885_150708920	150658061	T T	TAATAATA others(8): Show TAATAATAATAATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0171 a0003c0004t0001g0171	1	348	0.0029	15	c.18 others(26): Show c.1830_*1831insGTTATTATTATTATT	ERICH6	ENSG00000163645.15	transcript	ENST00000295910.11	protein_coding		1823		chr3	TogoVar
ERLEC1_chr2_53782044_53823796	53785279	T T	TCTTACTT others(8): Show TCTTACTTTTCATCAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	374	0.0027	15	c.-19 others(26): Show c.-1932_-1931insCTTACTTTTCATCAG	ERLEC1	ENSG00000068912.15	transcript	ENST00000185150.9	protein_coding		1764		chr2	TogoVar
ERMARD_chr6_169746622_169786600	169761673	G G	GGTTTTGT others(8): Show GGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00438.hp2 HG00597.hp1 others(78): Show HG00280.hp2 HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00639.hp2 HG00741.hp1 HG01069.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01175.hp1 HG01256.hp1 HG01258.hp1 HG01358.hp1 HG01515.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01952.hp1 HG02145.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp2 HG03540.hp1 HG03669.hp2 HG03710.hp1 HG04115.hp1 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18940.hp1 NA18940.hp2 NA18945.hp2 NA18948.hp2 NA18951.hp1 NA18954.hp1 NA18954.hp2 NA18961.hp1 NA18963.hp1 NA18966.hp2 NA18974.hp1 NA18986.hp2 NA18995.hp1 NA19030.hp1 NA19043.hp1 NA19057.hp2 NA19062.hp1 NA19072.hp1 NA19084.hp1 NA19084.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0007 others(1): Show a0001 a0002 a0007 a0011	a0001c0001 a0001c0005 a0001c0013 others(3): Show a0001c0001 a0001c0005 a0001c0013 a0002c0003 a0007c0018 a0011c0014	a0001c0001t0001 a0001c0005t0001 a0001c0013t0001 others(3): Show a0001c0001t0001 a0001c0005t0001 a0001c0013t0001 a0002c0003t0001 a0007c0018t0001 a0011c0014t0001	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 others(42): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0017 a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0005t0001g0012 a0001c0005t0001g0033 a0001c0005t0001g0069 a0001c0005t0001g0074 a0001c0005t0001g0075 a0001c0005t0001g0076 a0001c0005t0001g0077 a0001c0005t0001g0078 a0001c0005t0001g0079 a0001c0005t0001g0080 a0001c0005t0001g0081 a0001c0005t0001g0082 a0001c0013t0001g0034 a0002c0003t0001g0013 a0002c0003t0001g0109 a0002c0003t0001g0110 a0002c0003t0001g0116 a0007c0018t0001g0009 a0011c0014t0001g0012	81	379	0.2137	15	c.858 others(30): Show c.858-745_858-731dupGTTTTGTTTTGTTTT	ERMARD	ENSG00000130023.16	transcript	ENST00000366773.8	protein_coding	8/17		INFO_REALIGN_3_PRIME	chr6	TogoVar
ERO1B_chr1_236210101_236286958	236257560	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00558.hp1 HG00597.hp1 others(9): Show HG00438.hp2 HG00558.hp1 HG00597.hp1 HG02129.hp1 HG02896.hp2 HG02897.hp1 HG04199.hp2 NA18943.hp2 NA18945.hp1 NA18973.hp2 NA19080.hp2 NA19082.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 others(1): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0007 a0001c0003t0020	a0001c0003t0001g0152 a0001c0003t0001g0154 a0001c0003t0001g0163 others(9): Show a0001c0003t0001g0152 a0001c0003t0001g0154 a0001c0003t0001g0163 a0001c0003t0001g0171 a0001c0003t0001g0201 a0001c0003t0002g0139 a0001c0003t0002g0155 a0001c0003t0002g0164 a0001c0003t0002g0191 a0001c0003t0007g0199 a0001c0003t0007g0200 a0001c0003t0020g0158	12	396	0.0303	15	c.223 others(32): Show c.223-4056_223-4055insTTTTTTTTTTTTTTT	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	2/15			chr1	TogoVar
ERO1B_chr1_236210101_236286958	236261941	T T	TCAAAAAA others(8): Show TCAAAAAAAACAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp1 others(106): Show HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00735.hp2 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01243.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01928.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01993.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02080.hp2 HG02083.hp1 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp1 HG02300.hp1 HG02523.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02809.hp2 HG02886.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03831.hp1 HG04184.hp1 HG04204.hp2 HG04228.hp1 NA18747.hp1 NA18939.hp1 NA18943.hp1 NA18945.hp2 NA18951.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp1 NA18959.hp2 NA18963.hp1 NA18967.hp1 NA18968.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp1 NA18979.hp1 NA18980.hp1 NA18986.hp2 NA18988.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19005.hp2 NA19006.hp1 NA19009.hp1 NA19009.hp2 NA19043.hp1 NA19057.hp1 NA19066.hp1 NA19070.hp1 NA19075.hp1 NA19075.hp2 NA19079.hp2 NA19082.hp1 NA19083.hp2 NA19087.hp2 NA19088.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0006 others(2): Show a0001 a0003 a0006 a0007 a0008	a0001c0001 a0003c0004 a0006c0010 others(2): Show a0001c0001 a0003c0004 a0006c0010 a0007c0011 a0008c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0036 a0001c0001t0048 a0001c0001t0055 a0001c0001t0056 a0001c0001t0058 a0001c0001t0059 a0003c0004t0025 a0003c0004t0043 a0006c0010t0001 a0007c0011t0071 a0008c0012t0001	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013 others(105): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0025 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0087 a0001c0001t0001g0090 a0001c0001t0001g0100 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0262 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0022 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0051 a0001c0001t0002g0064 a0001c0001t0002g0070 a0001c0001t0002g0091 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0129 a0001c0001t0002g0131 a0001c0001t0002g0133 a0001c0001t0002g0136 a0001c0001t0002g0181 a0001c0001t0002g0312 a0001c0001t0002g0329 a0001c0001t0003g0021 a0001c0001t0005g0089 a0001c0001t0007g0078 a0001c0001t0007g0079 a0001c0001t0008g0009 a0001c0001t0008g0037 a0001c0001t0009g0010 a0001c0001t0009g0012 a0001c0001t0017g0082 a0001c0001t0017g0085 a0001c0001t0017g0086 a0001c0001t0019g0369 a0001c0001t0020g0042 a0001c0001t0020g0092 a0001c0001t0021g0019 a0001c0001t0022g0024 a0001c0001t0022g0052 a0001c0001t0022g0053 a0001c0001t0031g0134 a0001c0001t0031g0135 a0001c0001t0032g0130 a0001c0001t0032g0138 a0001c0001t0034g0023 a0001c0001t0036g0034 a0001c0001t0036g0057 a0001c0001t0048g0120 a0001c0001t0055g0008 a0001c0001t0056g0074 a0001c0001t0058g0097 a0001c0001t0059g0098 a0003c0004t0025g0015 a0003c0004t0025g0017 a0003c0004t0025g0018 a0003c0004t0043g0128 a0006c0010t0001g0226 a0007c0011t0071g0016 a0008c0012t0001g0093	109	396	0.2753	15	c.222 others(32): Show c.222+7933_222+7934insTTTTTGTTTTTTTTG	ERO1B	ENSG00000086619.15	transcript	ENST00000354619.10	protein_coding	2/15			chr1	TogoVar
ERP29_chr12_112008426_112028449	112021515	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0067 a0001c0002t0001g0067	1	398	0.0025	15	c.284 others(30): Show c.284-623_284-609dupTTTTTTTTTTTTTTT	ERP29	ENSG00000089248.7	transcript	ENST00000261735.4	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr12	TogoVar
ERP44_chr9_99974185_100104000	100043291	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01496.hp1 NA19091.hp2 HG01496.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0182 a0001c0001t0001g0129 a0001c0001t0001g0182	2	220	0.0091	15	c.286 others(32): Show c.286+9125_286+9126insCTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	4/11			chr9	TogoVar
ERP44_chr9_99974185_100104000	100063075	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00738.hp1 HG00741.hp1 others(18): Show HG00323.hp2 HG00738.hp1 HG00741.hp1 HG01168.hp2 HG02055.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp2 HG02559.hp2 HG02809.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03195.hp2 HG03516.hp2 NA19043.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0003c0003t0004 a0001c0001t0003 a0001c0001t0004 a0003c0003t0004	a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 others(18): Show a0001c0001t0003g0076 a0001c0001t0003g0077 a0001c0001t0003g0078 a0001c0001t0003g0081 a0001c0001t0003g0082 a0001c0001t0003g0083 a0001c0001t0003g0084 a0001c0001t0003g0086 a0001c0001t0003g0091 a0001c0001t0003g0094 a0001c0001t0003g0095 a0001c0001t0003g0098 a0001c0001t0003g0100 a0001c0001t0003g0105 a0001c0001t0003g0106 a0001c0001t0003g0215 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0213 a0001c0001t0004g0217 a0003c0003t0004g0216	21	220	0.0955	15	c.58- others(30): Show c.58-2918_58-2904dupTTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ERP44_chr9_99974185_100104000	100063092	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0087 a0001c0001t0012g0087	1	220	0.0046	15	c.58- others(30): Show c.58-2921_58-2920insCTTTTTTTTTTTTTT	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding	1/11			chr9	TogoVar
ERP44_chr9_99974185_100104000	100100779	A A	ATATATAT others(8): Show ATATATATATTATATG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00423.hp2 others(91): Show HG00140.hp2 HG00280.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp1 HG00597.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01243.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02080.hp1 HG02083.hp2 HG02135.hp2 HG02155.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 NA18522.hp2 NA18945.hp1 NA18945.hp2 NA18955.hp1 NA18955.hp2 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18983.hp1 NA18983.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19058.hp2 NA19082.hp2 NA19084.hp2 NA19089.hp2 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0002c0004t0001	a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0113 others(91): Show a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 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 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0002g0067 a0001c0001t0005g0193 a0001c0001t0005g0194 a0001c0001t0005g0196 a0001c0001t0005g0201 a0001c0001t0007g0130 a0001c0001t0007g0131 a0001c0001t0007g0134 a0001c0001t0007g0136 a0001c0001t0008g0122 a0001c0001t0009g0144 a0001c0001t0009g0145 a0001c0001t0011g0124 a0001c0001t0014g0120 a0001c0001t0015g0147 a0001c0002t0001g0115 a0002c0004t0001g0211	94	220	0.4273	15	c.-19 others(26): Show c.-1940_-1939insCATATAATATATATA	ERP44	ENSG00000023318.9	transcript	ENST00000262455.7	protein_coding		1780		chr9	TogoVar
ERRFI1_chr1_8006727_8031309	8007498	T T	TATATATA others(8): Show TATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG06807.hp2 NA19009.hp1 NA19009.hp2 HG06807.hp2 NA19009.hp1 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0097 a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0097	3	402	0.0075	15	c.57 others(26): Show c.5711_*5712insTATATATATATATAT	ERRFI1	ENSG00000116285.13	transcript	ENST00000377482.10	protein_coding		4228		chr1	TogoVar
ERVK3-1_chr19_58300377_58321812	58317583	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01106.hp1 HG01123.hp2 others(15): Show HG00738.hp1 HG01106.hp1 HG01123.hp2 HG01175.hp1 HG01884.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp2 HG02132.hp2 HG02293.hp1 HG02451.hp1 HG02602.hp2 HG02735.hp2 HG02965.hp2 NA18950.hp1 NA18970.hp1 NA18977.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0004 a0001c0001t0004g0016 a0001c0001t0004g0025 others(8): Show a0001c0001t0004g0004 a0001c0001t0004g0016 a0001c0001t0004g0025 a0001c0001t0004g0026 a0001c0001t0004g0062 a0001c0001t0004g0078 a0001c0001t0004g0082 a0001c0001t0004g0114 a0001c0001t0004g0121 a0001c0001t0005g0042 a0001c0001t0005g0048	18	424	0.0425	15	c.28 others(26): Show c.2800_*2801insAAAAAAAAAAAAAAA	ERVK3-1	ENSG00000142396.11	transcript	ENST00000413518.6	protein_coding		772		chr19	TogoVar
ESAM_chr11_124748126_124767290	124749870	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0018 a0002c0002t0003g0018	1	430	0.0023	15	c.37 others(26): Show c.3761_*3775dupTTTTTTTTTTTTTTT	ESAM	ENSG00000149564.12	transcript	ENST00000278927.10	protein_coding		3255		chr11	TogoVar
ESAM_chr11_124748126_124767290	124749884	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0107 a0002c0002t0004g0107	1	430	0.0023	15	c.37 others(26): Show c.3761_*3762insGTTTTTTTTTTTTTT	ESAM	ENSG00000149564.12	transcript	ENST00000278927.10	protein_coding		3241		chr11	TogoVar
ESAM_chr11_124748126_124767290	124749885	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp2 HG03098.hp2 HG02886.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0021 a0001c0001t0002g0021	2	430	0.0047	15	c.37 others(26): Show c.3760_*3761insGTTTTTTTTTTTTTT	ESAM	ENSG00000149564.12	transcript	ENST00000278927.10	protein_coding		3240		chr11	TogoVar
ESAM_chr11_124748126_124767290	124749885	A A	AAAAACAA others(8): Show AAAAACAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp2 HG02257.hp2 HG02055.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	2	430	0.0047	15	c.37 others(26): Show c.3760_*3761insGTTTTTTTTTGTTTT	ESAM	ENSG00000149564.12	transcript	ENST00000278927.10	protein_coding		3240		chr11	TogoVar
ESF1_chr20_13709325_13789919	13716804	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02155.hp2 HG04199.hp1 others(3): Show HG01109.hp2 HG02155.hp2 HG04199.hp1 HG04204.hp1 NA19085.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0309 a0001c0001t0001g0322 a0001c0001t0001g0351 others(2): Show a0001c0001t0001g0309 a0001c0001t0001g0322 a0001c0001t0001g0351 a0001c0002t0001g0014 a0001c0002t0001g0184	6	390	0.0154	15	c.226 others(32): Show c.2262+549_2262+563dupAAAAAAAAAAAAAAA	ESF1	ENSG00000089048.15	transcript	ENST00000617257.2	protein_coding	13/13			chr20	TogoVar
ESPNL_chr2_238095340_238138287	238119403	A A	AGGAGGTG others(8): Show AGGAGGTGGGATGGAG	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0066 a0002c0004t0002g0066	1	408	0.0025	15	c.987 others(32): Show c.987+2377_987+2378insGATGGAGGGAGGTGG	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPNL_chr2_238095340_238138287	238125767	T T	TTGGAGTG others(8): Show TTGGAGTGGAGTGGAG	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01433.hp1 HG01515.hp2 others(12): Show HG00741.hp2 HG01433.hp1 HG01515.hp2 HG02258.hp2 HG02809.hp1 HG03195.hp1 HG03540.hp1 HG04199.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA19011.hp1 NA19057.hp2 NA19065.hp2 NA20905.hp2	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0013	a0001c0005 a0001c0012 a0001c0028 others(7): Show a0001c0005 a0001c0012 a0001c0028 a0002c0001 a0003c0013 a0003c0024 a0004c0003 a0004c0060 a0005c0087 a0013c0040	a0001c0005t0003 a0001c0012t0003 a0001c0028t0003 others(7): Show a0001c0005t0003 a0001c0012t0003 a0001c0028t0003 a0002c0001t0002 a0003c0013t0001 a0003c0024t0001 a0004c0003t0005 a0004c0060t0005 a0005c0087t0001 a0013c0040t0001	a0001c0005t0003g0197 a0001c0012t0003g0045 a0001c0028t0003g0186 others(12): Show a0001c0005t0003g0197 a0001c0012t0003g0045 a0001c0028t0003g0186 a0002c0001t0002g0137 a0002c0001t0002g0143 a0002c0001t0002g0147 a0002c0001t0002g0149 a0003c0013t0001g0139 a0003c0024t0001g0281 a0004c0003t0005g0283 a0004c0003t0005g0289 a0004c0060t0005g0290 a0005c0087t0001g0054 a0013c0040t0001g0211 a0013c0040t0001g0212	15	408	0.0368	15	c.110 others(32): Show c.1102+413_1102+427dupGTGGAGTGGAGTGGA	ESPNL	ENSG00000144488.15	transcript	ENST00000343063.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
ESPN_chr1_6419776_6465944	6424707	T T	TGCGGGGC others(8): Show TGCGGGGCGGGGCGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG03098.hp2 HG01891.hp1 HG03098.hp2	a0001 a0008 a0001 a0008	a0001c0002 a0008c0022 a0001c0002 a0008c0022	a0001c0002t0005 a0008c0022t0013 a0001c0002t0005 a0008c0022t0013	a0001c0002t0005g0033 a0008c0022t0013g0034 a0001c0002t0005g0033 a0008c0022t0013g0034	2	276	0.0073	15	c.-24 others(24): Show c.-249_-248insGCGGGGCGGGGCGGG	ESPN	ENSG00000187017.18	transcript	ENST00000645284.1	protein_coding		68		chr1	TogoVar
ESR2_chr14_64223317_64299371	64226698	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG00609.hp2 HG00621.hp1 others(62): Show HG00408.hp2 HG00609.hp2 HG00621.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01243.hp1 HG01433.hp1 HG01934.hp2 HG02015.hp1 HG02040.hp1 HG02109.hp2 HG02451.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03486.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG04184.hp2 HG04228.hp2 HG06807.hp1 NA18747.hp2 NA18970.hp2 NA18975.hp2 NA18995.hp1 NA19030.hp1 NA19043.hp2 NA19062.hp2 NA19066.hp1 NA19079.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0014 others(2): Show a0001c0001 a0001c0002 a0001c0014 a0001c0015 a0002c0004	a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 others(29): Show a0001c0001t0004 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0025 a0001c0001t0031 a0001c0001t0033 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0067 a0001c0001t0068 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0073 a0001c0001t0076 a0001c0001t0077 a0001c0001t0079 a0001c0001t0080 a0001c0001t0081 a0001c0001t0082 a0001c0002t0011 a0001c0002t0074 a0001c0002t0078 a0001c0002t0097 a0001c0002t0098 a0001c0002t0099 a0001c0002t0100 a0001c0014t0004 a0001c0015t0006 a0002c0004t0020	a0001c0001t0004g0007 a0001c0001t0004g0074 a0001c0001t0004g0075 others(59): Show a0001c0001t0004g0007 a0001c0001t0004g0074 a0001c0001t0004g0075 a0001c0001t0004g0261 a0001c0001t0004g0262 a0001c0001t0004g0263 a0001c0001t0004g0264 a0001c0001t0004g0267 a0001c0001t0004g0268 a0001c0001t0004g0269 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0297 a0001c0001t0004g0305 a0001c0001t0004g0306 a0001c0001t0004g0308 a0001c0001t0004g0311 a0001c0001t0004g0319 a0001c0001t0004g0321 a0001c0001t0009g0235 a0001c0001t0009g0237 a0001c0001t0009g0239 a0001c0001t0009g0240 a0001c0001t0009g0242 a0001c0001t0012g0218 a0001c0001t0012g0230 a0001c0001t0012g0243 a0001c0001t0013g0219 a0001c0001t0013g0346 a0001c0001t0025g0006 a0001c0001t0025g0233 a0001c0001t0031g0318 a0001c0001t0033g0226 a0001c0001t0033g0244 a0001c0001t0034g0301 a0001c0001t0034g0310 a0001c0001t0035g0227 a0001c0001t0036g0008 a0001c0001t0067g0296 a0001c0001t0068g0234 a0001c0001t0070g0229 a0001c0001t0071g0221 a0001c0001t0072g0228 a0001c0001t0073g0320 a0001c0001t0076g0270 a0001c0001t0077g0266 a0001c0001t0079g0295 a0001c0001t0080g0232 a0001c0001t0081g0236 a0001c0001t0082g0047 a0001c0002t0011g0204 a0001c0002t0074g0249 a0001c0002t0078g0303 a0001c0002t0097g0224 a0001c0002t0098g0223 a0001c0002t0099g0222 a0001c0002t0100g0225 a0001c0014t0004g0347 a0001c0015t0006g0156 a0002c0004t0020g0314 a0002c0004t0020g0315 a0002c0004t0020g0316	65	368	0.1766	15	c.64 others(26): Show c.6438_*6439insAAAAAAAAAAAAAAA	ESR2	ENSG00000140009.19	transcript	ENST00000341099.6	protein_coding		1618		chr14	TogoVar
ESR2_chr14_64223317_64299371	64246734	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02630.hp1 HG02647.hp1 others(2): Show HG01243.hp1 HG02630.hp1 HG02647.hp1 HG03098.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0013 a0001c0001t0025 others(2): Show a0001c0001t0004 a0001c0001t0013 a0001c0001t0025 a0001c0001t0073 a0001c0001t0081	a0001c0001t0004g0268 a0001c0001t0013g0346 a0001c0001t0025g0233 others(2): Show a0001c0001t0004g0268 a0001c0001t0013g0346 a0001c0001t0025g0233 a0001c0001t0073g0320 a0001c0001t0081g0236	5	368	0.0136	15	c.122 others(34): Show c.1225+2797_1225+2811dupTTTTTTTTTTTTTTT	ESR2	ENSG00000140009.19	transcript	ENST00000341099.6	protein_coding	7/8			chr14	TogoVar
ESR2_chr14_64223317_64299371	64246766	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0219 a0001c0001t0013g0219	1	368	0.0027	15	c.122 others(34): Show c.1225+2779_1225+2780insGTTTTTTTTTTTTTT	ESR2	ENSG00000140009.19	transcript	ENST00000341099.6	protein_coding	7/8			chr14	TogoVar
ESR2_chr14_64223317_64299371	64253560	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	368	0.0027	15	c.109 others(34): Show c.1091+3665_1091+3666insCACACACACACACAC	ESR2	ENSG00000140009.19	transcript	ENST00000341099.6	protein_coding	6/8			chr14	TogoVar
ESRP1_chr8_94636174_94712466	94682932	A A	ATATATAT others(8): Show ATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0367 a0001c0001t0001g0367	1	374	0.0027	15	c.182 others(34): Show c.1820+4562_1820+4563insATATATATATATTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRP1_chr8_94636174_94712466	94689811	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp1 HG00741.hp2 others(24): Show HG00140.hp1 HG00642.hp1 HG00741.hp2 HG01071.hp1 HG01074.hp2 HG01123.hp2 HG01175.hp2 HG01433.hp1 HG01517.hp1 HG01934.hp2 HG02040.hp1 HG02109.hp1 HG02132.hp2 HG02280.hp2 HG02622.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp1 HG03139.hp1 HG03710.hp1 HG03831.hp2 HG04204.hp2 NA18939.hp1 NA19057.hp2 NA19085.hp2 NA20129.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 others(1): Show a0001c0001 a0001c0003 a0001c0005 a0001c0011	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0003t0001 a0001c0005t0001 a0001c0011t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 others(24): Show a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0137 a0001c0001t0001g0198 a0001c0001t0001g0267 a0001c0001t0001g0269 a0001c0001t0001g0287 a0001c0001t0001g0291 a0001c0001t0001g0310 a0001c0001t0001g0314 a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0005g0274 a0001c0003t0001g0088 a0001c0003t0001g0151 a0001c0003t0001g0239 a0001c0003t0001g0241 a0001c0003t0001g0325 a0001c0003t0001g0327 a0001c0003t0001g0328 a0001c0003t0001g0332 a0001c0003t0001g0336 a0001c0003t0001g0337 a0001c0003t0001g0371 a0001c0005t0001g0184 a0001c0011t0001g0251	27	374	0.0722	15	c.182 others(34): Show c.1821-2855_1821-2841dupTTTTTTTTTTTTTTT	ESRP1	ENSG00000104413.18	transcript	ENST00000433389.8	protein_coding	13/15		INFO_REALIGN_3_PRIME	chr8	TogoVar
ESRRB_chr14_76371137_76506837	76460709	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp1 HG02109.hp2 others(21): Show HG01243.hp2 HG02055.hp1 HG02109.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02970.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 HG03195.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0014 others(1): Show a0001c0001 a0001c0002 a0001c0014 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0002t0001 a0001c0002t0002 a0001c0002t0007 a0001c0014t0009 a0002c0004t0004	a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0002g0025 others(21): Show a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0002g0025 a0001c0001t0002g0121 a0001c0001t0002g0175 a0001c0001t0002g0185 a0001c0001t0003g0181 a0001c0001t0003g0209 a0001c0001t0006g0020 a0001c0001t0006g0102 a0001c0001t0006g0243 a0001c0001t0007g0189 a0001c0001t0009g0043 a0001c0001t0009g0045 a0001c0001t0009g0210 a0001c0001t0013g0182 a0001c0001t0014g0104 a0001c0001t0014g0272 a0001c0001t0015g0212 a0001c0002t0001g0048 a0001c0002t0002g0047 a0001c0002t0007g0316 a0001c0014t0009g0141 a0002c0004t0004g0297	24	318	0.0755	15	c.461 others(32): Show c.461-1827_461-1826insTTTTTTTTTTTTTTT	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRB_chr14_76371137_76506837	76463445	G G	GTTTTGTT others(8): Show GTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02451.hp1 HG02572.hp1 others(9): Show HG01243.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02895.hp2 HG02970.hp2 HG03139.hp2 HG03195.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0015 a0001c0001t0023	a0001c0001t0001g0024 a0001c0001t0002g0025 a0001c0001t0002g0185 others(9): Show a0001c0001t0001g0024 a0001c0001t0002g0025 a0001c0001t0002g0185 a0001c0001t0004g0101 a0001c0001t0006g0102 a0001c0001t0006g0243 a0001c0001t0007g0189 a0001c0001t0009g0045 a0001c0001t0009g0210 a0001c0001t0013g0182 a0001c0001t0015g0212 a0001c0001t0023g0139	12	318	0.0377	15	c.577 others(30): Show c.577+788_577+789insGTTTTTTTTTTTTTT	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRB_chr14_76371137_76506837	76463451	T T	TTTTTTTG others(8): Show TTTTTTTGTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG03654.hp1 NA20805.hp2 HG00099.hp2 HG03654.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0030 a0001c0001t0001 a0001c0001t0030	a0001c0001t0001g0254 a0001c0001t0001g0283 a0001c0001t0030g0284 a0001c0001t0001g0254 a0001c0001t0001g0283 a0001c0001t0030g0284	3	318	0.0094	15	c.577 others(30): Show c.577+796_577+797insGTTTGTTTGTTTTTT	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr14	TogoVar
ESRRB_chr14_76371137_76506837	76489480	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0197 a0001c0001t0025g0197	1	318	0.0031	15	c.851 others(32): Show c.851-1967_851-1966insACACACACACACACA	ESRRB	ENSG00000119715.15	transcript	ENST00000644823.1	protein_coding	5/6			chr14	TogoVar
ESRRG_chr1_216498251_216728429	216569190	G G	GGGAAAGG others(8): Show GGGAAAGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01255.hp1 HG01433.hp2 others(9): Show HG01175.hp2 HG01255.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG02257.hp2 HG03704.hp2 NA18967.hp2 NA19001.hp1 NA19007.hp1 NA19058.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0097 a0001c0001t0001g0129 a0001c0001t0001g0243 others(9): Show a0001c0001t0001g0097 a0001c0001t0001g0129 a0001c0001t0001g0243 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0138 a0001c0001t0007g0099 a0001c0001t0011g0088 a0001c0002t0001g0109 a0001c0002t0001g0152 a0001c0002t0002g0230 a0001c0002t0002g0285	12	286	0.0420	15	c.590 others(32): Show c.590-1107_590-1093dupTTTCCTTTCCTTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216569190	G G	GGGAAGGG others(8): Show GGGAAGGGAAAGGAAA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01891.hp1 HG02572.hp1 others(9): Show HG00642.hp2 HG01891.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02895.hp1 HG02897.hp2 HG03225.hp2 HG03579.hp1 HG03688.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007	a0001c0001t0001 a0001c0002t0002 a0001c0003t0004 others(2): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0004 a0001c0004t0011 a0001c0007t0002	a0001c0001t0001g0075 a0001c0001t0001g0197 a0001c0002t0002g0006 others(9): Show a0001c0001t0001g0075 a0001c0001t0001g0197 a0001c0002t0002g0006 a0001c0002t0002g0029 a0001c0002t0002g0031 a0001c0002t0002g0250 a0001c0003t0004g0024 a0001c0003t0004g0030 a0001c0003t0004g0032 a0001c0003t0004g0033 a0001c0004t0011g0241 a0001c0007t0002g0179	12	286	0.0420	15	c.590 others(32): Show c.590-1093_590-1092insTTTCCTTTCCCTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216569190	G G	GGGAAGGG others(8): Show GGGAAGGGAGAGGAAA	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0240 a0001c0003t0004g0240	1	286	0.0035	15	c.590 others(32): Show c.590-1093_590-1092insTTTCCTCTCCCTTCC	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216625423	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 NA19064.hp1 others(1): Show HG01109.hp2 HG02258.hp1 NA19064.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0001t0014 a0001c0001t0029 others(1): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0029 a0001c0003t0004	a0001c0001t0003g0108 a0001c0001t0014g0017 a0001c0001t0029g0110 others(1): Show a0001c0001t0003g0108 a0001c0001t0014g0017 a0001c0001t0029g0110 a0001c0003t0004g0016	4	286	0.0140	15	c.589 others(34): Show c.589+25535_589+25549dupTTTTTTTTTTTTTTT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	3/6			chr1	TogoVar
ESRRG_chr1_216498251_216728429	216658848	A A	AAGAAGAG others(8): Show AAGAAGAGAAGAGAAG	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01891.hp1 HG02717.hp1 HG01106.hp1 HG01891.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0005 a0001c0006 a0001c0002 a0001c0005 a0001c0006	a0001c0002t0002 a0001c0005t0022 a0001c0006t0010 a0001c0002t0002 a0001c0005t0022 a0001c0006t0010	a0001c0002t0002g0031 a0001c0005t0022g0004 a0001c0006t0010g0008 a0001c0002t0002g0031 a0001c0005t0022g0004 a0001c0006t0010g0008	3	286	0.0105	15	c.473 others(32): Show c.473-7774_473-7760dupCTTCTCTTCTCTTCT	ESRRG	ENSG00000196482.18	transcript	ENST00000408911.8	protein_coding	2/6			chr1	TogoVar
ESS2_chr22_19125279_19149651	19128634	A A	AAGGGGAG others(8): Show AAGGGGAGGGGAGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp1 HG01070.hp1 HG01071.hp2 others(37): Show HG00642.hp1 HG01070.hp1 HG01071.hp2 HG01256.hp1 HG01258.hp2 HG01952.hp2 HG01975.hp1 HG01993.hp1 HG02056.hp1 HG02083.hp1 HG02148.hp2 HG02300.hp1 HG02451.hp2 HG02735.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG03516.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG04199.hp1 NA18956.hp2 NA18964.hp2 NA18968.hp1 NA18971.hp1 NA18981.hp2 NA18984.hp2 NA18989.hp1 NA18993.hp2 NA19004.hp2 NA19009.hp1 NA19012.hp1 NA19056.hp2 NA19058.hp2 NA19074.hp2 NA19085.hp2 NA19088.hp2 NA19089.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0007 a0001c0002t0013 others(3): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0013 a0001c0004t0004 a0001c0004t0011 a0001c0006t0004	a0001c0001t0001g0011 a0001c0001t0001g0121 a0001c0001t0007g0066 others(18): Show a0001c0001t0001g0011 a0001c0001t0001g0121 a0001c0001t0007g0066 a0001c0002t0013g0037 a0001c0002t0013g0078 a0001c0004t0004g0008 a0001c0004t0004g0019 a0001c0004t0004g0024 a0001c0004t0004g0072 a0001c0004t0004g0073 a0001c0004t0004g0075 a0001c0004t0004g0076 a0001c0004t0004g0092 a0001c0004t0004g0093 a0001c0004t0004g0094 a0001c0004t0004g0153 a0001c0004t0011g0023 a0001c0004t0011g0071 a0001c0004t0011g0074 a0001c0006t0004g0015 a0001c0006t0004g0056	40	432	0.0926	15	c.55 others(26): Show c.5561_*5562insCCCCTCCCCTCCCCT	ESS2	ENSG00000100056.12	transcript	ENST00000252137.11	protein_coding		1644		chr22	TogoVar
ETF1_chr5_138501095_138548236	138501222	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG02074.hp1 HG02486.hp2 others(3): Show HG01516.hp1 HG02074.hp1 HG02486.hp2 HG03927.hp2 HG03942.hp2 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0002t0001 a0001c0001t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0001g0041 a0001c0001t0001g0080 a0001c0001t0001g0085 others(3): Show a0001c0001t0001g0041 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0106 a0001c0001t0007g0094 a0001c0002t0001g0088	6	334	0.0180	15	c.70 others(26): Show c.7082_*7083insTTTTTTTTTTTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding		4872		chr5	TogoVar
ETF1_chr5_138501095_138548236	138512225	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00408.hp1 HG00438.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0145 a0001c0001t0001g0084 a0001c0001t0001g0145	2	334	0.0060	15	c.732 others(30): Show c.732+538_732+539insATATTTTTTTTTTTT	ETF1	ENSG00000120705.13	transcript	ENST00000360541.10	protein_coding	6/10			chr5	TogoVar

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