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
EIF2AK1_chr7_6017247_6064175	6056613	A A	AAAAAAAA others(27): Show AAAAAAAAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01070.hp2 HG01192.hp2 others(4): Show HG00280.hp2 HG01070.hp2 HG01192.hp2 HG01517.hp2 HG02615.hp2 HG03834.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 others(4): Show a0001c0001t0002g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 a0001c0001t0003g0062 a0001c0001t0003g0063	7	418	0.0168	34	c.119 others(51): Show c.119-1910_119-1909insATATATATATATATATATATATATTTTT TTTTTT	EIF2AK1	ENSG00000086232.13	transcript	ENST00000199389.11	protein_coding	1/14			chr7	TogoVar
EIF2AK4_chr15_39929115_40040591	40017501	C C	CTATATAT others(27): Show CTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02602.hp2 NA18957.hp1 HG02165.hp1 HG02602.hp2 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0126 a0001c0001t0003g0171 a0001c0001t0003g0182 a0001c0001t0002g0126 a0001c0001t0003g0171 a0001c0001t0003g0182	3	368	0.0082	34	c.406 others(51): Show c.4065+279_4065+312dupATATATATATATATATATATATATATAT ATATAT	EIF2AK4	ENSG00000128829.12	transcript	ENST00000263791.10	protein_coding	29/38		INFO_REALIGN_3_PRIME	chr15	TogoVar
EIF2B3_chr1_44845522_44991595	44984797	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	322	0.0031	34	c.-10 others(51): Show c.-10+1695_-10+1696insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	EIF2B3	ENSG00000070785.17	transcript	ENST00000360403.7	protein_coding	1/11			chr1	TogoVar
EIF2D_chr1_206586642_206617465	206589164	C C	CCCCCCCC others(27): Show CCCCCCCCCCTTCCCCCCCCCCCCCCCCCCCGCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	426	0.0024	34	c.26 others(45): Show c.2610_*2611insAGGCGGGGGGGGGGGGGGGGGGGAAGGGGGGGGG	EIF2D	ENSG00000143486.16	transcript	ENST00000271764.7	protein_coding		2477		chr1	TogoVar
EIF2S3B_chr12_10500890_10513525	10504330	T T	TATATATA others(27): Show TATATATATATATATATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	422	0.0024	34	c.-15 others(45): Show c.-1573_-1572insATATATATATATATATATATATATATATATATAC	EIF2S3B	ENSG00000180574.4	transcript	ENST00000538173.2	protein_coding		1559		chr12	TogoVar
EIF3A_chr10_119028670_119085817	119052366	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0136 a0001c0001t0002g0136	1	350	0.0029	34	c.219 others(53): Show c.2197-1046_2197-1045insCACACACACACACACACACACACACA CACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3A_chr10_119028670_119085817	119052368	T T	TTGTGTGT others(27): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00741.hp1 others(7): Show HG00140.hp2 HG00280.hp1 HG00741.hp1 HG00741.hp2 HG01256.hp2 HG02647.hp2 HG02965.hp2 NA18962.hp2 NA19056.hp2 NA19062.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0001c0002 a0003c0004 others(1): Show a0001c0001 a0001c0002 a0003c0004 a0006c0011	a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0004 a0003c0004t0009 a0006c0011t0003	a0001c0001t0001g0065 a0001c0001t0002g0076 a0001c0001t0002g0089 others(7): Show a0001c0001t0001g0065 a0001c0001t0002g0076 a0001c0001t0002g0089 a0001c0001t0002g0102 a0001c0001t0002g0115 a0001c0001t0002g0118 a0001c0001t0002g0146 a0001c0002t0004g0292 a0003c0004t0009g0021 a0006c0011t0003g0107	10	350	0.0286	34	c.219 others(53): Show c.2197-1048_2197-1047insCACACACACACACACACACACACACA CACACACA	EIF3A	ENSG00000107581.14	transcript	ENST00000369144.8	protein_coding	14/21			chr10	TogoVar
EIF3H_chr8_116637130_116760823	116653348	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01358.hp2 HG01496.hp1 others(9): Show HG00609.hp2 HG01358.hp2 HG01496.hp1 HG02080.hp2 HG02132.hp2 HG02155.hp1 NA18612.hp1 NA18978.hp1 NA18982.hp1 NA18998.hp1 NA19082.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0021 a0001c0001t0004 a0001c0001t0021	a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0163 others(9): Show a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0163 a0001c0001t0004g0170 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0184 a0001c0001t0004g0186 a0001c0001t0004g0187 a0001c0001t0004g0189 a0001c0001t0004g0193 a0001c0001t0021g0194	12	336	0.0357	34	c.707 others(51): Show c.707+2507_707+2508insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	EIF3H	ENSG00000147677.12	transcript	ENST00000521861.6	protein_coding	5/7			chr8	TogoVar
EIF3K_chr19_38614188_38641954	38621412	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	400	0.0025	34	c.158 others(49): Show c.158+982_158+983insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
EIF3K_chr19_38614188_38641954	38621414	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0060 a0001c0001t0001g0060	1	400	0.0025	34	c.158 others(49): Show c.158+982_158+983insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA TAAA	EIF3K	ENSG00000178982.10	transcript	ENST00000248342.9	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr19	TogoVar
EIF4B_chr12_53001456_53047215	53030413	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19005.hp2 HG00438.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0145 a0001c0006t0001g0153 a0001c0001t0001g0145 a0001c0006t0001g0153	2	372	0.0054	34	c.979 others(51): Show c.979+2250_979+2251insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	EIF4B	ENSG00000063046.18	transcript	ENST00000262056.14	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0334 a0001c0003t0001g0334	1	366	0.0027	34	c.299 others(49): Show c.299-733_299-732insATATATATATATATATATATTTTTTTTTTT TTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4ENIF1_chr22_31434367_31494842	31464699	A A	AAAAAAAA others(27): Show AAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0285 a0001c0003t0001g0285	1	366	0.0027	34	c.299 others(49): Show c.299-733_299-732insATATATATATATATATATATATATATATTT TTTT	EIF4ENIF1	ENSG00000184708.18	transcript	ENST00000330125.10	protein_coding	4/18			chr22	TogoVar
EIF4G3_chr1_20801479_21181897	20863378	T T	TAAAAAAA others(27): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0043 a0001c0001t0007g0043	1	312	0.0032	34	c.300 others(53): Show c.3007-1047_3007-1046insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	EIF4G3	ENSG00000075151.24	transcript	ENST00000602326.6	protein_coding	22/36			chr1	TogoVar
EIPR1_chr2_3183970_3382818	3315296	T T	TCACCACC others(27): Show TCACCACCATCCCCATCCACAGCCCCTACCACCAC	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02015.hp1 HG03669.hp2 others(4): Show HG01516.hp1 HG02015.hp1 HG03669.hp2 HG03688.hp2 HG03942.hp1 HG04228.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(4): Show a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0002t0002g0020 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0124	7	250	0.0280	34	c.259 others(53): Show c.259+22720_259+22721insGTGGTGGTAGGGGCTGTGGATGGGGA TGGTGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315402	C C	CACCACCA others(27): Show CACCACCATCACCACCATCCCCATCCACACCCCCT	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0025 a0001c0001t0003g0025	1	250	0.0040	34	c.259 others(53): Show c.259+22581_259+22614dupAGGGGGTGTGGATGGGGATGGTGGTG ATGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3315579	C C	CCCCCTAC others(27): Show CCCCCTACCACCATCACCACCATCCCCATCCACAG	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	250	0.0040	34	c.259 others(53): Show c.259+22437_259+22438insCTGTGGATGGGGATGGTGGTGATGGT GGTAGGGG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3316029	C C	CACCACCA others(27): Show CACCACCATCACCACCATCCCCATACACACCCCCT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03130.hp1 HG01243.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0056 a0001c0001t0001g0047 a0001c0001t0001g0056	2	250	0.0080	34	c.259 others(53): Show c.259+21987_259+21988insAGGGGGTGTGTATGGGGATGGTGGTG ATGGTGGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3330931	T T	TACACTCG others(27): Show TACACTCGTGAGATGGTGTGAGCAGAGGCAGGCAC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00408.hp2 HG01192.hp1 others(15): Show HG00140.hp2 HG00408.hp2 HG01192.hp1 HG01256.hp1 HG01258.hp1 HG01496.hp1 HG02970.hp2 HG03017.hp1 HG03098.hp2 HG03704.hp2 NA18906.hp2 NA18945.hp1 NA18952.hp2 NA18971.hp1 NA18995.hp1 NA19004.hp2 NA19091.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0005	a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 others(15): Show a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0219 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0003g0091 a0001c0002t0001g0092 a0001c0002t0005g0078 a0001c0002t0005g0093 a0001c0002t0005g0094	18	250	0.0720	34	c.259 others(51): Show c.259+7085_259+7086insGTGCCTGCCTCTGCTCACACCATCTCAC GAGTGT	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EIPR1_chr2_3183970_3382818	3330938	G G	GTGAGATG others(27): Show GTGAGATGGTGTGAGCAGAGGCAGGCACACACTCA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00408.hp1 HG00544.hp2 others(90): Show HG00323.hp1 HG00408.hp1 HG00544.hp2 HG00733.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp2 HG01516.hp1 HG01993.hp1 HG02015.hp1 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02280.hp1 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02698.hp1 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp1 HG04115.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18747.hp1 NA18944.hp1 NA18950.hp1 NA18957.hp2 NA18963.hp1 NA18964.hp1 NA18964.hp2 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp1 NA18999.hp1 NA19010.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp1 NA19043.hp2 NA19064.hp1 NA19066.hp1 NA19084.hp2 NA19085.hp2 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0049 others(90): Show a0001c0001t0001g0001 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0105 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0178 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0246 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0027 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0132 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0149 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0155 a0001c0001t0002g0158 a0001c0001t0002g0163 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0174 a0001c0001t0002g0183 a0001c0001t0002g0185 a0001c0001t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0214 a0001c0001t0002g0220 a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0129 a0001c0001t0003g0143 a0001c0001t0003g0150 a0001c0001t0003g0247 a0001c0001t0004g0026 a0001c0001t0004g0050 a0001c0001t0004g0103 a0001c0001t0004g0107 a0001c0001t0004g0135 a0001c0001t0004g0136 a0001c0001t0004g0137 a0001c0001t0004g0138 a0001c0001t0004g0162 a0001c0001t0004g0173 a0001c0001t0006g0177 a0001c0001t0006g0182 a0001c0001t0006g0184 a0001c0002t0002g0020 a0001c0002t0002g0116 a0001c0002t0002g0118 a0001c0002t0002g0124	93	250	0.3720	34	c.259 others(51): Show c.259+7078_259+7079insTGAGTGTGTGCCTGCCTCTGCTCACACC ATCTCA	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
ELAPOR1_chr1_109109115_109211781	109113451	A A	AGAGAGAG others(27): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0009 a0004c0008t0009	a0004c0008t0009g0065 a0004c0008t0009g0065	1	230	0.0044	34	c.-73 others(43): Show c.-733_-732insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGGGAGT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding		663		chr1	TogoVar
ELAPOR1_chr1_109109115_109211781	109144061	A A	ATATATAT others(27): Show ATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0028 a0003c0004t0028	a0003c0004t0028g0098 a0003c0004t0028g0098	1	230	0.0044	34	c.154 others(53): Show c.154-17832_154-17831insATATATATATATATATTTTTTTTTTT TTTTTTTT	ELAPOR1	ENSG00000116299.17	transcript	ENST00000369939.8	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
ELAVL1_chr19_7953573_8010641	7957359	G G	GAAAGAAA others(27): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01981.hp2 HG03654.hp1 HG03927.hp2 others(2): Show HG01981.hp2 HG03654.hp1 HG03927.hp2 NA18944.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0020 a0001c0001t0002 a0001c0001t0007 a0001c0001t0020	a0001c0001t0002g0163 a0001c0001t0002g0185 a0001c0001t0002g0192 others(2): Show a0001c0001t0002g0163 a0001c0001t0002g0185 a0001c0001t0002g0192 a0001c0001t0007g0155 a0001c0001t0020g0169	5	276	0.0181	34	c.61 others(45): Show c.6123_*6124insTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTT	ELAVL1	ENSG00000066044.15	transcript	ENST00000407627.7	protein_coding		1213		chr19	TogoVar
ELAVL2_chr9_23685104_23831240	23735105	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0230 a0001c0001t0003g0230	1	352	0.0028	34	c.230 others(51): Show c.230-3981_230-3980insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ELAVL2	ENSG00000107105.15	transcript	ENST00000397312.7	protein_coding	2/6			chr9	TogoVar
ELL2_chr5_95880098_95966851	95907296	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0012 a0001c0003t0012	a0001c0003t0012g0015 a0001c0003t0012g0015	1	314	0.0032	34	c.482 others(49): Show c.482-515_482-514insAAAAAAAAAAAAAAAATATATATATATATA TATA	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	4/11			chr5	TogoVar
ELL2_chr5_95880098_95966851	95927408	C C	CACACGTG others(27): Show CACACGTGTGTATATATAGACATACACACACACGT	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18955.hp1 HG01346.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0260 a0001c0001t0002g0276 a0001c0001t0002g0260 a0001c0001t0002g0276	2	314	0.0064	34	c.196 others(51): Show c.196-7864_196-7863insACGTGTGTGTGTATGTCTATATATACAC ACGTGT	ELL2	ENSG00000118985.16	transcript	ENST00000237853.9	protein_coding	2/11			chr5	TogoVar
ELL_chr19_18437663_18527070	18454840	C C	CAAAAAAA others(27): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0197 a0001c0001t0001g0197	1	244	0.0041	34	c.870 others(51): Show c.870-3193_870-3192insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	ELL	ENSG00000105656.13	transcript	ENST00000262809.9	protein_coding	6/11			chr19	TogoVar
ELMO1_chr7_36847906_37453864	37161905	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01106.hp1 HG01123.hp1 others(1): Show HG00741.hp1 HG01106.hp1 HG01123.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0014 a0001c0002t0004 a0001c0001t0003 a0001c0001t0014 a0001c0002t0004	a0001c0001t0003g0044 a0001c0001t0014g0088 a0001c0002t0004g0047 others(1): Show a0001c0001t0003g0044 a0001c0001t0014g0088 a0001c0002t0004g0047 a0001c0002t0004g0053	4	92	0.0435	34	c.108 others(55): Show c.1087-28672_1087-28671insATATATATATATATATATATATAT ATATATATAT	ELMO1	ENSG00000155849.16	transcript	ENST00000310758.9	protein_coding	13/21			chr7	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGCGGG others(27): Show GGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18991.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0069 a0001c0001t0003g0069	1	312	0.0032	34	c.-47 others(45): Show c.-4772_-4771insACACACACACACACACACACACACACACCCGCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411193	G G	GGGGGGCG others(27): Show GGGGGGCGGGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0223 a0001c0001t0004g0223	1	312	0.0032	34	c.-47 others(45): Show c.-4772_-4771insACACACACACACACACACACACACACCCGCCCCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4579		chr20	TogoVar
ELMO2_chr20_46361050_46411615	46411195	C C	CGGGTGTG others(27): Show CGGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02809.hp2 HG02976.hp1 others(2): Show HG02630.hp2 HG02809.hp2 HG02976.hp1 NA19001.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0002g0204 others(2): Show a0001c0001t0001g0080 a0001c0001t0001g0091 a0001c0001t0002g0204 a0001c0001t0003g0004 a0001c0001t0004g0218	5	312	0.0160	34	c.-47 others(45): Show c.-4774_-4773insACACACACACACACACACACACACACACACACCC	ELMO2	ENSG00000062598.18	transcript	ENST00000290246.11	protein_coding		4581		chr20	TogoVar
ELN_chr7_74023173_74074907	74044221	A A	AATCGTAG others(27): Show AATCGTAGCTCACTGCAGCCTGGACCTTCTGGGCT	intron_variant intron_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0241 a0003c0003t0002g0241	1	366	0.0027	34	c.469 others(49): Show c.469+301_469+302insATCGTAGCTCACTGCAGCCTGGACCTTCTG GGCT	ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	9/32			chr7	TogoVar
ELN_chr7_74023173_74074907	74058249	T T	TTTCTTCT others(27): Show TTTCTTCTTCTTCTTCCTCTTTTTCTCCTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0068 a0002c0002t0005g0068	1	366	0.0027	34	c.141 others(51): Show c.1414+564_1414+565insCTTCCTCTTTTTCTCCTTCTTTCTTCTT CTTCTT	ELN	ENSG00000049540.19	transcript	ENST00000252034.12	protein_coding	22/32		INFO_REALIGN_3_PRIME	chr7	TogoVar
ELOVL2_chr6_10975759_11049305	11043467	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG03669.hp2 HG04228.hp1 others(6): Show HG00544.hp2 HG03669.hp2 HG04228.hp1 NA18945.hp1 NA18955.hp2 NA18970.hp1 NA18972.hp2 NA19010.hp2 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 others(6): Show a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049	9	380	0.0237	34	c.3+7 others(45): Show c.3+760_3+761insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ELOVL2	ENSG00000197977.4	transcript	ENST00000354666.4	protein_coding	1/7			chr6	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(27): Show AAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0049 a0001c0001t0028g0049	1	338	0.0030	34	c.90- others(51): Show c.90-12276_90-12275insATATATATATATATATATATATTTTTTT TTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117903	A A	AAAAAAAA others(27): Show AAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0112 a0001c0001t0016g0112	1	338	0.0030	34	c.90- others(51): Show c.90-12276_90-12275insATATATATATATATATATATATATATTT TTTTTT	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELOVL6_chr4_110040846_110203615	110117924	A A	ATATATAT others(27): Show ATATATATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	338	0.0030	34	c.90- others(51): Show c.90-12297_90-12296insGATATATATATATATATATATATATATA TATATA	ELOVL6	ENSG00000170522.10	transcript	ENST00000302274.8	protein_coding	1/3			chr4	TogoVar
ELP1_chr9_108862517_108939124	108900756	A A	ACACACAC others(27): Show ACACACACACATACACGCCACACACACATACACGC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00741.hp2 HG01070.hp1 others(23): Show HG00438.hp1 HG00741.hp2 HG01070.hp1 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01516.hp1 HG01517.hp1 HG01978.hp2 HG02080.hp2 HG02129.hp1 HG02293.hp1 HG02735.hp1 HG02818.hp2 NA18949.hp2 NA18963.hp2 NA18966.hp1 NA18968.hp1 NA18988.hp2 NA19002.hp1 NA19003.hp2 NA19007.hp1 NA19055.hp1 NA19064.hp2 NA19065.hp1 NA19085.hp2	a0001 a0024 a0001 a0024	a0001c0001 a0024c0041 a0001c0001 a0024c0041	a0001c0001t0002 a0001c0001t0023 a0024c0041t0024 a0001c0001t0002 a0001c0001t0023 a0024c0041t0024	a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0027 others(18): Show a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0002g0302 a0001c0001t0002g0303 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0320 a0001c0001t0002g0324 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0347 a0001c0001t0002g0352 a0001c0001t0002g0355 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0023g0338 a0024c0041t0024g0349	26	416	0.0625	34	c.201 others(51): Show c.2015-415_2015-382dupGCGTGTATGTGTGTGTGGCGTGTATGTG TGTGTG	ELP1	ENSG00000070061.16	transcript	ENST00000374647.10	protein_coding	18/36			chr9	TogoVar
ELSPBP1_chr19_47989632_48030154	48028497	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0191 a0004c0004t0002g0191	1	388	0.0026	34	c.35 others(45): Show c.3553_*3554insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ELSPBP1	ENSG00000169393.10	transcript	ENST00000339841.7	protein_coding		3344		chr19	TogoVar
EMC10_chr19_50471507_50495871	50472090	A A	ATGTATAT others(27): Show ATGTATATATACGTGTGTATATGTATATATACGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02015.hp1 HG02015.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0094 a0001c0002t0094	a0001c0002t0094g0005 a0001c0002t0094g0005	1	352	0.0028	34	c.-44 others(45): Show c.-4455_-4454insTGTATATATACGTGTGTATATGTATATATACGTG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		4416		chr19	TogoVar
EMC10_chr19_50471507_50495871	50492036	C C	CGGGGAGA others(27): Show CGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0056 a0001c0002t0056	a0001c0002t0056g0068 a0001c0002t0056g0068	1	352	0.0028	34	c.97 others(45): Show c.9777_*9778insGGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	EMC10	ENSG00000161671.17	transcript	ENST00000334976.11	protein_coding		1166		chr19	TogoVar
EMC2_chr8_108438624_108494196	108443355	A A	ACACACAC others(27): Show ACACACACACACACACACACACACACACCCACACC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp2 HG02895.hp2 HG02897.hp2 others(1): Show HG02886.hp2 HG02895.hp2 HG02897.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0017 a0001c0001t0004 a0001c0001t0017	a0001c0001t0004g0027 a0001c0001t0004g0158 a0001c0001t0017g0027 others(1): Show a0001c0001t0004g0027 a0001c0001t0004g0158 a0001c0001t0017g0027 a0001c0001t0017g0155	4	364	0.0110	34	c.-30 others(43): Show c.-304_-303insCACACACACACACACACACACACACACCCACACC	EMC2	ENSG00000104412.8	transcript	ENST00000220853.8	protein_coding		268		chr8	TogoVar
EMC3_chr3_9957682_9991841	9963477	A A	ATATATAT others(27): Show ATATATATATATATATATATATTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01952.hp2 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0049 a0001c0001t0049	a0001c0001t0049g0076 a0001c0001t0049g0076	1	322	0.0031	34	c.59 others(43): Show c.591_*592insAAAAAAAAAAAAAATATATATATATATATATATA	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	8/8	591		chr3	TogoVar
EMC3_chr3_9957682_9991841	9963477	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03239.hp1 HG03239.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0047 a0001c0001t0047	a0001c0001t0047g0080 a0001c0001t0047g0080	1	322	0.0031	34	c.59 others(43): Show c.591_*592insAAAAAAAAAAAAAAAATATATATATATATATATA	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	8/8	591		chr3	TogoVar
EMC3_chr3_9957682_9991841	9963477	A A	ATATATAT others(27): Show ATATATATATATATATATTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18971.hp2 NA18986.hp1 NA18988.hp1 NA18971.hp2 NA18986.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0024 a0001c0005t0024 a0001c0001t0024 a0001c0005t0024	a0001c0001t0024g0075 a0001c0001t0024g0077 a0001c0005t0024g0074 a0001c0001t0024g0075 a0001c0001t0024g0077 a0001c0005t0024g0074	3	322	0.0093	34	c.59 others(43): Show c.591_*592insAAAAAAAAAAAAAAAAAATATATATATATATATA	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	8/8	591		chr3	TogoVar
EMC3_chr3_9957682_9991841	9967379	A A	ACTTTTGT others(27): Show ACTTTTGTGCATGGTGTGAAATAGGTGCCCAGCCT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00609.hp1 HG00639.hp1 others(146): Show HG00408.hp1 HG00609.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01099.hp2 HG01109.hp2 HG01168.hp1 HG01175.hp1 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18943.hp2 NA18945.hp1 NA18948.hp2 NA18953.hp1 NA18956.hp1 NA18957.hp1 NA18957.hp2 NA18959.hp2 NA18961.hp1 NA18962.hp2 NA18964.hp2 NA18966.hp1 NA18978.hp2 NA18979.hp2 NA18986.hp2 NA18988.hp2 NA18990.hp2 NA18991.hp2 NA18992.hp2 NA18999.hp2 NA19004.hp1 NA19006.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19077.hp1 NA19078.hp2 NA19079.hp1 NA19080.hp1 NA19083.hp2 NA19085.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0004 a0003c0008 a0001c0001 a0001c0004 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(33): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0018 a0001c0001t0021 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0032 a0001c0001t0035 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0057 a0001c0001t0060 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0064 a0001c0001t0067 a0001c0001t0068 a0001c0004t0002 a0003c0008t0002	a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0237 others(133): Show a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0237 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0016 a0001c0001t0002g0023 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0041 a0001c0001t0002g0042 a0001c0001t0002g0043 a0001c0001t0002g0046 a0001c0001t0002g0049 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0243 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0247 a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0003g0140 a0001c0001t0004g0018 a0001c0001t0004g0283 a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 a0001c0001t0004g0287 a0001c0001t0004g0290 a0001c0001t0004g0291 a0001c0001t0004g0293 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0296 a0001c0001t0004g0297 a0001c0001t0004g0298 a0001c0001t0004g0300 a0001c0001t0005g0002 a0001c0001t0005g0100 a0001c0001t0005g0130 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0137 a0001c0001t0005g0145 a0001c0001t0005g0148 a0001c0001t0005g0223 a0001c0001t0005g0230 a0001c0001t0006g0147 a0001c0001t0007g0011 a0001c0001t0007g0121 a0001c0001t0007g0122 a0001c0001t0007g0132 a0001c0001t0007g0141 a0001c0001t0007g0143 a0001c0001t0007g0149 a0001c0001t0007g0213 a0001c0001t0007g0214 a0001c0001t0009g0035 a0001c0001t0009g0037 a0001c0001t0009g0047 a0001c0001t0009g0051 a0001c0001t0009g0054 a0001c0001t0009g0056 a0001c0001t0009g0248 a0001c0001t0009g0252 a0001c0001t0010g0008 a0001c0001t0010g0022 a0001c0001t0010g0030 a0001c0001t0010g0040 a0001c0001t0010g0045 a0001c0001t0010g0059 a0001c0001t0013g0136 a0001c0001t0013g0139 a0001c0001t0013g0144 a0001c0001t0013g0150 a0001c0001t0013g0215 a0001c0001t0018g0003 a0001c0001t0018g0124 a0001c0001t0021g0025 a0001c0001t0021g0029 a0001c0001t0021g0050 a0001c0001t0021g0064 a0001c0001t0025g0024 a0001c0001t0025g0048 a0001c0001t0025g0071 a0001c0001t0026g0031 a0001c0001t0026g0057 a0001c0001t0026g0060 a0001c0001t0027g0282 a0001c0001t0027g0288 a0001c0001t0027g0289 a0001c0001t0028g0133 a0001c0001t0028g0138 a0001c0001t0030g0131 a0001c0001t0030g0152 a0001c0001t0032g0058 a0001c0001t0032g0066 a0001c0001t0035g0020 a0001c0001t0036g0039 a0001c0001t0039g0123 a0001c0001t0040g0231 a0001c0001t0053g0021 a0001c0001t0054g0044 a0001c0001t0055g0065 a0001c0001t0056g0034 a0001c0001t0057g0255 a0001c0001t0060g0266 a0001c0001t0061g0268 a0001c0001t0062g0267 a0001c0001t0063g0269 a0001c0001t0064g0270 a0001c0001t0067g0299 a0001c0001t0068g0292 a0001c0004t0002g0005 a0003c0008t0002g0265	149	322	0.4627	34	c.657 others(51): Show c.657+2306_657+2339dupAGGCTGGGCACCTATTTCACACCATGCA CAAAAG	EMC3	ENSG00000125037.13	transcript	ENST00000245046.7	protein_coding	7/7			chr3	TogoVar
EMC7_chr15_34079017_34106862	34087831	G G	GACAGAGC others(27): Show GACAGAGCAAACATCACAATACGGTTCAAAAACCC	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0084 a0001c0001t0001g0084	1	410	0.0024	34	c.576 others(49): Show c.576+188_576+221dupGGGTTTTTGAACCGTATTGTGATGTTTGCT CTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	4/4			chr15	TogoVar
EMC7_chr15_34079017_34106862	34093806	C C	CACACACA others(27): Show CACACACACACACACATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	410	0.0024	34	c.356 others(51): Show c.356+2088_356+2089insATATATATATATATATATATGTGTGTGT GTGTGT	EMC7	ENSG00000134153.10	transcript	ENST00000256545.9	protein_coding	2/4			chr15	TogoVar
EMILIN2_chr18_2842006_2921003	2858569	A A	ATATATAT others(27): Show ATATATATATATATATATATACGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	452	0.0022	34	c.257 others(53): Show c.257+10639_257+10640insATATATATATATATATATACGTGTGT GTGTGTGT	EMILIN2	ENSG00000132205.11	transcript	ENST00000254528.4	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
EML4_chr2_42164353_42337548	42245094	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG06807.hp1 NA19080.hp1 HG02886.hp1 HG06807.hp1 NA19080.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0003c0003t0004 a0001c0001t0002 a0003c0003t0004	a0001c0001t0002g0203 a0001c0001t0002g0275 a0003c0003t0004g0270 a0001c0001t0002g0203 a0001c0001t0002g0275 a0003c0003t0004g0270	3	358	0.0084	34	c.26- others(47): Show c.26-393_26-392insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	EML4	ENSG00000143924.19	transcript	ENST00000318522.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr2	TogoVar

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