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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
L3MBTL4_chr18_5949717_6419911	5958106	GAAGAAGA others(17): Show GAAGAAGAAGAAGAAGAAGAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03017.hp1 HG01952.hp2 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0062 a0001c0001t0002g0029 a0001c0001t0002g0062	2	94	0.0213	-24	c.167 others(43): Show c.1678-1743_1678-1720delTTTCTTCTTCTTCTTCTTCTTCTT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	18/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6071737	GAAGGAAG others(17): Show GAAGGAAGGAAAGAAAGAAAGAAAA	G G	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0066 a0002c0002t0001g0066	1	94	0.0106	-24	c.144 others(43): Show c.1444+9120_1444+9143delTTTTCTTTCTTTCTTTCCTTCCTT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6071744	GGAAAGAA others(17): Show GGAAAGAAAGAAAGAAAAAAAGAAA	G G	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG04115.hp1 HG01978.hp2 HG04115.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0001 a0001c0001t0003 a0002c0002t0001	a0001c0001t0003g0024 a0002c0002t0001g0025 a0001c0001t0003g0024 a0002c0002t0001g0025	2	94	0.0213	-24	c.144 others(43): Show c.1444+9113_1444+9136delTTTCTTTTTTTCTTTCTTTCTTTC		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18						chr18	TogoVar
L3MBTL4_chr18_5949717_6419911	6314036	TGATAGAT others(17): Show TGATAGATAGATAGATAGATAGATA	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0011 a0001c0001t0003g0011	1	94	0.0106	-24	c.-90 others(41): Show c.-90-2004_-90-1981delTATCTATCTATCTATCTATCTATC		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	1/18						chr18	TogoVar
LACTB_chr15_63116861_63147061	63145328	ACCATATC others(17): Show ACCATATCTGGCCTTCTGTGTCTTG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	416	0.0024	-24	c.35 others(35): Show c.3524_*3547delCCATATCTGGCCTTCTGTGTCTTG		LACTB	ENSG00000103642.12	transcript	ENST00000261893.9	protein_coding					3268		chr15	TogoVar
LAMA2_chr6_128878138_129521566	128961318	GATATATA others(17): Show GATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01074.hp1 HG01192.hp1 others(14): Show HG00609.hp1 HG01074.hp1 HG01192.hp1 HG01261.hp2 HG02055.hp1 HG02559.hp2 HG02895.hp2 HG02897.hp1 HG02922.hp1 NA18747.hp1 NA18946.hp1 NA18946.hp2 NA18973.hp2 NA19043.hp2 NA19084.hp1 NA19084.hp2 NA20129.hp1	a0001 a0002 a0003 others(5): Show a0001 a0002 a0003 a0004 a0007 a0009 a0010 a0012	a0001c0012 a0001c0049 a0001c0068 others(11): Show a0001c0012 a0001c0049 a0001c0068 a0002c0003 a0002c0004 a0002c0056 a0003c0063 a0004c0051 a0007c0046 a0007c0066 a0009c0024 a0009c0064 a0010c0006 a0012c0005	a0001c0012t0001 a0001c0049t0001 a0001c0068t0003 others(11): Show a0001c0012t0001 a0001c0049t0001 a0001c0068t0003 a0002c0003t0003 a0002c0004t0001 a0002c0056t0003 a0003c0063t0001 a0004c0051t0001 a0007c0046t0001 a0007c0066t0001 a0009c0024t0004 a0009c0064t0004 a0010c0006t0002 a0012c0005t0003	a0001c0012t0001g0057 a0001c0012t0001g0074 a0001c0049t0001g0042 others(14): Show a0001c0012t0001g0057 a0001c0012t0001g0074 a0001c0049t0001g0042 a0001c0068t0003g0069 a0002c0003t0003g0038 a0002c0003t0003g0039 a0002c0004t0001g0033 a0002c0056t0003g0077 a0003c0063t0001g0075 a0004c0051t0001g0008 a0007c0046t0001g0066 a0007c0066t0001g0067 a0009c0024t0004g0055 a0009c0064t0004g0076 a0010c0006t0002g0037 a0012c0005t0003g0034 a0012c0005t0003g0035	17	88	0.1932	-24	c.112 others(43): Show c.112+77988_112+78011delATATATATATATATATATATATAT		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	1/64					INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA2_chr6_128878138_129521566	128962139	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp2 HG03098.hp1 HG03098.hp2	a0006 a0015 a0006 a0015	a0006c0007 a0015c0010 a0006c0007 a0015c0010	a0006c0007t0002 a0015c0010t0003 a0006c0007t0002 a0015c0010t0003	a0006c0007t0002g0081 a0015c0010t0003g0082 a0006c0007t0002g0081 a0015c0010t0003g0082	2	88	0.0227	-24	c.112 others(43): Show c.112+78806_112+78829delTATATATATATATATATATATATA		LAMA2	ENSG00000196569.14	transcript	ENST00000421865.3	protein_coding	1/64					INFO_REALIGN_3_PRIME	chr6	TogoVar
LAMA3_chr18_23684453_23960066	23690872	ATTATTTA others(17): Show ATTATTTATTTATTTATTTATTTAT	A A	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp2 HG03540.hp2 others(2): Show HG01167.hp2 HG01169.hp2 HG03540.hp2 NA18522.hp1 NA18906.hp2	a0001 a0003 a0001 a0003	a0001c0002 a0003c0014 a0001c0002 a0003c0014	a0001c0002t0001 a0003c0014t0002 a0001c0002t0001 a0003c0014t0002	a0001c0002t0001g0240 a0001c0002t0001g0242 a0001c0002t0001g0243 others(2): Show a0001c0002t0001g0240 a0001c0002t0001g0242 a0001c0002t0001g0243 a0003c0014t0002g0241 a0003c0014t0002g0244	5	280	0.0179	-24	c.294 others(39): Show c.294+922_294+945delATTTATTTATTTATTTATTTATTT		LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding	1/74					INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA3_chr18_23684453_23960066	23884047	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA19091.hp2 HG00438.hp1 NA19091.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0038 a0005c0006t0001g0084 a0005c0006t0001g0038 a0005c0006t0001g0084	2	280	0.0071	-24	c.522 others(41): Show c.5223-697_5223-674delGTGTGTGTGTGTGTGTGTGTGTGT		LAMA3	ENSG00000053747.17	transcript	ENST00000313654.14	protein_coding	40/74					INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA3_chr18_23868020_23960066	23884047	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 NA18995.hp1 NA19091.hp1 HG00438.hp1 NA18995.hp1 NA19091.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0004 a0002c0002 a0003c0004	a0002c0002t0001 a0003c0004t0001 a0002c0002t0001 a0003c0004t0001	a0002c0002t0001g0107 a0003c0004t0001g0198 a0003c0004t0001g0199 a0002c0002t0001g0107 a0003c0004t0001g0198 a0003c0004t0001g0199	3	334	0.0090	-24	c.396 others(39): Show c.396-697_396-674delGTGTGTGTGTGTGTGTGTGTGTGT		LAMA3	ENSG00000053747.17	transcript	ENST00000269217.11	protein_coding	3/37					INFO_REALIGN_3_PRIME	chr18	TogoVar
LAMA4_chr6_112102931_112259567	112190871	TTTTCTTT others(17): Show TTTTCTTTCTTTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0022 a0022	a0022c0046 a0022c0046	a0022c0046t0002 a0022c0046t0002	a0022c0046t0002g0233 a0022c0046t0002g0233	1	314	0.0032	-24	c.718 others(39): Show c.718+741_718+764delGAAAGAAAGAAAGAAAGAAAGAAA		LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38						chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190927	CTTTCTTT others(17): Show CTTTCTTTCTTTCTTTCTTTCCTTT	C C	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0208 a0004c0010t0001g0208	1	314	0.0032	-24	c.718 others(39): Show c.718+685_718+708delAAAGGAAAGAAAGAAAGAAAGAAA		LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38						chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190931	CTTTCTTT others(17): Show CTTTCTTTCTTTCTTTCCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04199.hp2 NA18747.hp2 others(1): Show HG03831.hp2 HG04199.hp2 NA18747.hp2 NA18968.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0003 a0006c0012 a0001c0001 a0002c0003 a0006c0012	a0001c0001t0001 a0002c0003t0002 a0006c0012t0002 a0001c0001t0001 a0002c0003t0002 a0006c0012t0002	a0001c0001t0001g0016 a0002c0003t0002g0142 a0002c0003t0002g0304 others(1): Show a0001c0001t0001g0016 a0002c0003t0002g0142 a0002c0003t0002g0304 a0006c0012t0002g0075	4	314	0.0127	-24	c.718 others(39): Show c.718+681_718+704delAAAGAAAGGAAAGAAAGAAAGAAA		LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38						chr6	TogoVar
LAMA4_chr6_112102931_112259567	112190935	CTTTCTTT others(17): Show CTTTCTTTCTTTCCTTTCTTTCTTT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0203 a0001c0009t0001g0203	1	314	0.0032	-24	c.718 others(39): Show c.718+677_718+700delAAAGAAAGAAAGGAAAGAAAGAAA		LAMA4	ENSG00000112769.20	transcript	ENST00000230538.12	protein_coding	6/38						chr6	TogoVar
LAMA5_chr20_62304065_62372312	62318079	GGAGGAGA others(17): Show GGAGGAGAAGGGGAAGGAGAGAATA	G G	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0005 a0005	a0005c0108 a0005c0108	a0005c0108t0001 a0005c0108t0001	a0005c0108t0001g0148 a0005c0108t0001g0148	1	186	0.0054	-24	c.724 others(41): Show c.7240-325_7240-302delTATTCTCTCCTTCCCCTTCTCCTC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	53/79						chr20	TogoVar
LAMA5_chr20_62304065_62372312	62360412	GGTGGGTG others(17): Show GGTGGGTGGGTGGAGGGATGGGTGA	G G	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	186	0.0054	-24	c.450 others(41): Show c.450+1964_450+1987delTCACCCATCCCTCCACCCACCCAC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	2/79						chr20	TogoVar
LAMB4_chr7_108018553_108135361	108043545	GTTTTTTT others(17): Show GTTTTTTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0034 a0034	a0034c0073 a0034c0073	a0034c0073t0003 a0034c0073t0003	a0034c0073t0003g0212 a0034c0073t0003g0212	1	292	0.0034	-24	c.447 others(41): Show c.4471+183_4471+206delAAAAAAAAAAAAAAAAAAAAAAAA		LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	29/33						chr7	TogoVar
LAMP1_chr13_113292239_113328672	113301638	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03688.hp1 HG02451.hp2 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0244 a0001c0001t0006g0243 a0001c0001t0001g0244 a0001c0001t0006g0243	2	354	0.0057	-24	c.61+ others(39): Show c.61+4145_61+4168delAAAAAATATATATATATATATATA		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113301640	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01169.hp2 HG01192.hp2 others(21): Show HG01074.hp1 HG01169.hp2 HG01192.hp2 HG01256.hp2 HG01257.hp1 HG01258.hp2 HG01358.hp1 HG01496.hp1 HG01934.hp1 HG01934.hp2 HG03492.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp2 NA18945.hp2 NA18953.hp2 NA18999.hp1 NA19009.hp1 NA20752.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0008 a0001c0001 a0007c0008	a0001c0001t0001 a0001c0001t0027 a0007c0008t0006 a0001c0001t0001 a0001c0001t0027 a0007c0008t0006	a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0173 others(20): Show a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0260 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0027g0182 a0007c0008t0006g0175 a0007c0008t0006g0176	24	354	0.0678	-24	c.61+ others(39): Show c.61+4147_61+4170delAAAATATATATATATATATATATA		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113301642	AAAATATA others(17): Show AAAATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG01167.hp2 others(8): Show HG00597.hp2 HG00735.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp1 HG01257.hp2 HG01258.hp1 HG01433.hp1 HG03654.hp2 NA18978.hp1 NA18978.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0012 a0001c0001 a0010c0012	a0001c0001t0001 a0010c0012t0008 a0001c0001t0001 a0010c0012t0008	a0001c0001t0001g0013 a0001c0001t0001g0089 a0001c0001t0001g0092 others(7): Show a0001c0001t0001g0013 a0001c0001t0001g0089 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0270 a0010c0012t0008g0091	11	354	0.0311	-24	c.61+ others(39): Show c.61+4149_61+4172delAATATATATATATATATATATATA		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP1_chr13_113292239_113328672	113301644	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02717.hp1 HG02895.hp1 HG02071.hp2 HG02717.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102	3	354	0.0085	-24	c.61+ others(39): Show c.61+4174_61+4197delATATATATATATATATATATATAT		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr13	TogoVar
LAMP3_chr3_183117215_183167734	183149560	AAAAAAAA others(17): Show AAAAAAAAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA18990.hp1 NA18990.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0239 a0002c0002t0001g0239	1	372	0.0027	-24	c.888 others(41): Show c.888+2791_888+2814delATATATATATTTTTTTTTTTTTTT		LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5						chr3	TogoVar
LAMP3_chr3_183117215_183167734	183149562	AAAAAAAA others(17): Show AAAAAAAAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02071.hp1 HG02135.hp1 others(11): Show HG00558.hp2 HG02071.hp1 HG02135.hp1 HG02738.hp2 HG03834.hp2 HG04204.hp1 NA18747.hp2 NA18948.hp1 NA18981.hp1 NA19055.hp1 NA19062.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0004 a0001c0001t0001 a0002c0002t0001 a0002c0002t0004	a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0148 others(10): Show a0001c0001t0001g0089 a0001c0001t0001g0097 a0001c0001t0001g0148 a0001c0001t0001g0244 a0002c0002t0001g0016 a0002c0002t0001g0140 a0002c0002t0001g0141 a0002c0002t0001g0142 a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0219 a0002c0002t0001g0247 a0002c0002t0004g0335	14	372	0.0376	-24	c.888 others(41): Show c.888+2789_888+2812delATATATATATATTTTTTTTTTTTT		LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5						chr3	TogoVar
LAMP3_chr3_183117215_183167734	183149564	AAAAAAAA others(17): Show AAAAAAAAAAAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03490.hp1 HG03492.hp1 others(3): Show HG03471.hp1 HG03490.hp1 HG03492.hp1 HG06807.hp2 NA18957.hp2 NA19077.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0002c0002t0001 a0002c0002t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002	a0001c0001t0004g0024 a0001c0001t0004g0331 a0002c0002t0001g0237 others(2): Show a0001c0001t0004g0024 a0001c0001t0004g0331 a0002c0002t0001g0237 a0002c0002t0001g0246 a0002c0002t0002g0032	6	372	0.0161	-24	c.888 others(41): Show c.888+2787_888+2810delATATATATATATATTTTTTTTTTT		LAMP3	ENSG00000078081.8	transcript	ENST00000265598.8	protein_coding	3/5						chr3	TogoVar
LAMP5_chr20_9509590_9535524	9526860	GTATATAT others(17): Show GTATATATATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00609.hp1 HG00621.hp1 others(43): Show HG00544.hp1 HG00609.hp1 HG00621.hp1 HG00673.hp1 HG01099.hp2 HG02027.hp2 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02523.hp2 HG03710.hp1 HG03831.hp2 HG04228.hp1 NA18939.hp1 NA18940.hp1 NA18946.hp2 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18970.hp2 NA18975.hp1 NA18983.hp2 NA18993.hp2 NA18994.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19002.hp2 NA19003.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp2 NA19070.hp1 NA19084.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp2 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0039 others(37): Show a0001c0001t0001g0015 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0127 a0001c0001t0001g0175 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0228 a0001c0001t0001g0243 a0001c0001t0001g0251 a0001c0001t0002g0035 a0001c0001t0002g0112 a0001c0001t0004g0233 a0001c0001t0004g0288 a0002c0002t0001g0008 a0002c0002t0002g0008 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0310 a0002c0002t0002g0320 a0002c0002t0002g0323 a0002c0002t0002g0326 a0002c0002t0002g0327 a0002c0002t0002g0329 a0002c0002t0002g0331 a0002c0002t0002g0332 a0002c0002t0002g0333 a0002c0002t0002g0337 a0002c0002t0002g0338	46	448	0.1027	-24	c.665 others(41): Show c.665-2763_665-2740delTATATATATATATATATATATATA		LAMP5	ENSG00000125869.10	transcript	ENST00000246070.3	protein_coding	5/5					INFO_REALIGN_3_PRIME	chr20	TogoVar
LANCL2_chr7_55360337_55438737	55378514	ATGTGTAT others(17): Show ATGTGTATATATATGTATACGTGTG	A A	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01993.hp2 HG02055.hp1 others(14): Show HG01891.hp2 HG01993.hp2 HG02055.hp1 HG02258.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp2 HG02896.hp2 HG02970.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03579.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0004c0006 a0001c0004 a0004c0006	a0001c0004t0002 a0001c0004t0006 a0004c0006t0006 a0001c0004t0002 a0001c0004t0006 a0004c0006t0006	a0001c0004t0002g0183 a0001c0004t0006g0176 a0001c0004t0006g0177 others(14): Show a0001c0004t0002g0183 a0001c0004t0006g0176 a0001c0004t0006g0177 a0001c0004t0006g0178 a0001c0004t0006g0181 a0001c0004t0006g0182 a0001c0004t0006g0184 a0001c0004t0006g0185 a0001c0004t0006g0186 a0001c0004t0006g0187 a0001c0004t0006g0188 a0001c0004t0006g0189 a0001c0004t0006g0190 a0001c0004t0006g0191 a0001c0004t0006g0192 a0004c0006t0006g0179 a0004c0006t0006g0180	17	352	0.0483	-24	c.204 others(43): Show c.204+12291_204+12314delATATATATGTATACGTGTGTGTGT		LANCL2	ENSG00000132434.10	transcript	ENST00000254770.3	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr7	TogoVar
LAPTM4A_chr2_20027650_20056628	20046748	TTATATAA others(17): Show TTATATAAATATATATATAATATAA	T T	intron_variant intron_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	424	0.0024	-24	c.111 others(41): Show c.111+4638_111+4661delTTATATTATATATATATTTATATA		LAPTM4A	ENSG00000068697.7	transcript	ENST00000175091.5	protein_coding	1/6						chr2	TogoVar
LARGE1_chr22_33267509_33925476	33574686	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01070.hp1 HG01071.hp2 others(18): Show HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01257.hp1 HG01891.hp2 HG02280.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03471.hp2 HG03516.hp1 NA18522.hp1 NA18906.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0001c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0018 a0001c0001t0028 a0001c0003t0009 a0001c0004t0004 a0001c0004t0005 a0001c0004t0013 a0001c0017t0009	a0001c0001t0001g0031 a0001c0001t0001g0059 a0001c0001t0001g0060 others(18): Show a0001c0001t0001g0031 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0004g0010 a0001c0001t0005g0024 a0001c0001t0005g0027 a0001c0001t0005g0028 a0001c0001t0006g0007 a0001c0001t0007g0046 a0001c0001t0007g0048 a0001c0001t0018g0067 a0001c0001t0028g0105 a0001c0003t0009g0001 a0001c0004t0004g0077 a0001c0004t0005g0026 a0001c0004t0013g0102 a0001c0017t0009g0083	21	110	0.1909	-24	c.616 others(41): Show c.616-9691_616-9668delCACACACACACACACACACACACA		LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	5/14						chr22	TogoVar
LARGE1_chr22_33267509_33925476	33766913	CATATATA others(17): Show CATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01891.hp1 HG02257.hp2 others(5): Show HG00735.hp1 HG01891.hp1 HG02257.hp2 HG02717.hp1 HG02809.hp2 HG02886.hp2 HG03540.hp1 NA20129.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0001c0012 others(1): Show a0001c0001 a0001c0007 a0001c0012 a0003c0020	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0030 a0001c0007t0010 a0001c0012t0019 a0003c0020t0010	a0001c0001t0001g0059 a0001c0001t0004g0045 a0001c0001t0005g0076 others(5): Show a0001c0001t0001g0059 a0001c0001t0004g0045 a0001c0001t0005g0076 a0001c0001t0006g0007 a0001c0001t0030g0106 a0001c0007t0010g0006 a0001c0012t0019g0029 a0003c0020t0010g0008	8	110	0.0727	-24	c.-82 others(41): Show c.-82-5379_-82-5356delATATATATATATATATATATATAT		LARGE1	ENSG00000133424.22	transcript	ENST00000397394.8	protein_coding	1/14						chr22	TogoVar
LARGE2_chr11_45917656_45934096	45923985	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0052 a0001c0001t0002g0052	1	418	0.0024	-24	c.369 others(39): Show c.369-154_369-131delAAAAAAAAAAAAAAAAAAAAAAAA		LARGE2	ENSG00000165905.18	transcript	ENST00000401752.6	protein_coding	3/13					INFO_REALIGN_3_PRIME	chr11	TogoVar
LARP1B_chr4_128056312_128216988	128065249	ATTAATTT others(17): Show ATTAATTTCTTTCTTTCTTTCTTTC	A A	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01346.hp1 HG01175.hp2 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0103 a0001c0001t0003g0102 a0001c0001t0003g0103	2	336	0.0060	-24	c.-78 others(41): Show c.-78+3851_-78+3874delAATTTCTTTCTTTCTTTCTTTCTT		LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP1B_chr4_128056312_128216988	128065327	CTCTCTTT others(17): Show CTCTCTTTCCTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0039 a0002c0002t0002g0039	1	336	0.0030	-24	c.-78 others(41): Show c.-78+3928_-78+3951delCTCTTTCCTTTCTTTTCTTTTCTT		LARP1B	ENSG00000138709.20	transcript	ENST00000326639.11	protein_coding	1/19					INFO_REALIGN_3_PRIME	chr4	TogoVar
LARP4_chr12_50395885_50485004	50397772	CTCCTTCC others(17): Show CTCCTTCCTTCCTTCCTTCCTTCCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0310 a0001c0001t0002g0310	1	318	0.0031	-24	c.-32 others(35): Show c.-3238_-3215delTCCTTCCTTCCTTCCTTCCTTCCT		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding					3112		chr12	TogoVar
LARP4_chr12_50395885_50485004	50397802	CCTTCCTT others(17): Show CCTTCCTTCCTTCCTTCCTTCCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	318	0.0031	-24	c.-32 others(35): Show c.-3208_-3185delCTTCCTTCCTTCCTTCCTTCCTTT		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding					3082		chr12	TogoVar
LARP4_chr12_50395885_50485004	50436051	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18954.hp2 NA18948.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0295 a0001c0001t0001g0296	2	318	0.0063	-24	c.535 others(39): Show c.535+445_535+468delGTGTGTGTGTGTGTGTGTGTGTGT		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LASP1_chr17_38865058_38926770	38875156	GAGGCAGG others(17): Show GAGGCAGGGGCCCAGGCAGGGGCCT	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0013 a0001c0001t0002g0013	1	396	0.0025	-24	c.70- others(39): Show c.70-2918_70-2895delCAGGCAGGGGCCTAGGCAGGGGCC		LASP1	ENSG00000002834.19	transcript	ENST00000318008.11	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr17	TogoVar
LAT2_chr7_74205006_74234834	74214117	TATATATA others(17): Show TATATATATAAATATATATATGAAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG02273.hp2 others(1): Show HG01070.hp1 HG01071.hp2 HG02273.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0238 a0001c0001t0001g0319 a0001c0001t0001g0011 a0001c0001t0001g0238 a0001c0001t0001g0319	4	344	0.0116	-24	c.-21 others(41): Show c.-218-671_-218-648delAATATATATATGAAAATATATATA		LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
LAT2_chr7_74205006_74234834	74214139	AAAATATA others(17): Show AAAATATATATAAATATATATATGA	A A	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01106.hp2 HG01109.hp1 others(60): Show HG00673.hp2 HG01106.hp2 HG01109.hp1 HG01123.hp2 HG01168.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01891.hp2 HG01928.hp1 HG01952.hp2 HG01981.hp1 HG01993.hp2 HG02015.hp2 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02155.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02523.hp1 HG02602.hp1 HG02622.hp2 HG02723.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03490.hp1 HG03540.hp2 HG03669.hp2 HG03704.hp1 NA18522.hp2 NA18947.hp1 NA18954.hp2 NA18962.hp1 NA18974.hp1 NA18975.hp2 NA18979.hp1 NA18980.hp1 NA18983.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp1 NA19085.hp1 NA20129.hp1 NA20905.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0068 others(58): Show a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0246 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0270 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0005c0006t0001g0200	63	344	0.1831	-24	c.-21 others(41): Show c.-218-671_-218-648delAATATATATATGAAAATATATATA		LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
LAT2_chr7_74205006_74234834	74214435	TATATATA others(17): Show TATATATATAAATATATATATGAAA	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	344	0.0029	-24	c.-21 others(41): Show c.-218-377_-218-354delAATATATATATGAAAATATATATA		LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
LAT2_chr7_74205006_74234834	74214601	AATATATA others(17): Show AATATATATAAATATATATATGAAT	A A	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG01515.hp2 HG01517.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0062 a0001c0001t0001g0063	2	344	0.0058	-24	c.-21 others(41): Show c.-218-211_-218-188delAATATATATATGAATATATATATA		LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	1/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
LAT2_chr7_74205006_74234834	74219009	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	344	0.0029	-24	c.135 others(39): Show c.135-720_135-697delTTTTTTTTTTTTTTTTTTTTTTTT		LAT2	ENSG00000086730.17	transcript	ENST00000460943.6	protein_coding	4/13					INFO_REALIGN_3_PRIME	chr7	TogoVar
LATS2_chr13_20968036_21066586	20969693	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0004 a0002c0006t0004	a0002c0006t0004g0020 a0002c0006t0004g0020	1	316	0.0032	-24	c.51 others(35): Show c.5153_*5176delATATATATATATATATATATTTTT		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding					3342		chr13	TogoVar
LATS2_chr13_20968036_21066586	20969697	AATATATA others(17): Show AATATATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG03540.hp2 NA18969.hp1 others(7): Show HG00597.hp2 HG03540.hp2 NA18969.hp1 NA18991.hp2 NA18999.hp2 NA19012.hp2 NA19058.hp2 NA19064.hp1 NA19066.hp1 NA19079.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0006 a0003c0032 a0001c0001 a0002c0006 a0003c0032	a0001c0001t0006 a0002c0006t0004 a0003c0032t0016 a0001c0001t0006 a0002c0006t0004 a0003c0032t0016	a0001c0001t0006g0195 a0002c0006t0004g0011 a0002c0006t0004g0012 others(7): Show a0001c0001t0006g0195 a0002c0006t0004g0011 a0002c0006t0004g0012 a0002c0006t0004g0164 a0002c0006t0004g0169 a0002c0006t0004g0210 a0002c0006t0004g0212 a0002c0006t0004g0213 a0002c0006t0004g0219 a0003c0032t0016g0315	10	316	0.0317	-24	c.51 others(35): Show c.5149_*5172delATATATATATATATATATATATAT		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding					3338		chr13	TogoVar
LATS2_chr13_20968036_21066586	21028512	ATATTTTG others(17): Show ATATTTTGTTAAATTTATCCCTAAG	A A	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0122 a0002c0002t0003g0122	1	316	0.0032	-24	c.342 others(43): Show c.342+17149_342+17172delCTTAGGGATAAATTTAACAAAATA		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	2/7						chr13	TogoVar
LAX1_chr1_203760183_203781372	203770450	AGAGAAAG others(17): Show AGAGAAAGGAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18989.hp1 NA19009.hp2 HG02056.hp1 NA18989.hp1 NA19009.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0013 a0002c0004t0025 a0002c0004t0013 a0002c0004t0025	a0002c0004t0013g0060 a0002c0004t0013g0096 a0002c0004t0025g0405 a0002c0004t0013g0060 a0002c0004t0013g0096 a0002c0004t0025g0405	3	422	0.0071	-24	c.90- others(37): Show c.90-377_90-354delGAGAAAGGAAGGAAGGAAGGAAGG		LAX1	ENSG00000122188.13	transcript	ENST00000442561.7	protein_coding	1/4						chr1	TogoVar
LAYN_chr11_111535720_111566745	111564617	AACACACA others(17): Show AACACACACACACACACACACACAC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	298	0.0034	-24	c.41 others(35): Show c.4160_*4183delACACACACACACACACACACACAC		LAYN	ENSG00000204381.12	transcript	ENST00000375614.7	protein_coding					2873		chr11	TogoVar
LCA5L_chr21_39400728_39450778	39417014	CTTTGGAT others(17): Show CTTTGGATATTTAGGGATAGCTTTT	C C	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG01257.hp2 HG01258.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0005 a0004c0006t0001g0005	2	340	0.0059	-24	c.975 others(41): Show c.975+3668_975+3691delAAAAGCTATCCCTAAATATCCAAA		LCA5L	ENSG00000157578.14	transcript	ENST00000288350.8	protein_coding	7/10						chr21	TogoVar
LCE1B_chr1_152806971_152818108	152812597	TGCTGTGG others(17): Show TGCTGTGGCTCCAGCTCTGGGGGAA	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02280.hp1 HG02280.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0000 a0004c0007t0001g0000	1	440	0.0023	-24	c.174 others(31): Show c.174_197delAAGCTGTGGCTCCAGCTCTGGGGG	p.Ser others(11): Show p.Ser59_Gly66del	LCE1B	ENSG00000196734.9	transcript	ENST00000360090.4	protein_coding	1/1	650/1138	174/357	58/118		INFO_REALIGN_3_PRIME	chr1	TogoVar
LCE2C_chr1_152670279_152681569	152676153	TTGCTGTG others(17): Show TTGCTGTGGTCCCAGCTCTGGGAGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0001 a0003c0007t0001g0001	1	426	0.0024	-24	c.160 others(31): Show c.160_183delAGCTGCTGTGGTCCCAGCTCTGGG	p.Ser others(11): Show p.Ser54_Gly61del	LCE2C	ENSG00000187180.4	transcript	ENST00000368783.2	protein_coding	2/2	231/625	160/333	54/110		INFO_REALIGN_3_PRIME	chr1	TogoVar
LCE3A_chr1_152617834_152628103	152621907	GAGATAGA others(17): Show GAGATAGATAGATAGATAGATAGAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG04184.hp1 NA19002.hp2 HG03927.hp2 HG04184.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	3	410	0.0073	-24	c.90 others(33): Show c.903_*926delATCTATCTATCTATCTATCTATCT		LCE3A	ENSG00000185962.1	transcript	ENST00000335674.1	protein_coding					926		chr1	TogoVar

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