Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	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
KIF2C_chr1_44734837_44772767	44738055	T T	TCCCCCTC others(40): Show TCCCCCTCCCCCTCCCCCTCCTCCCCCCCTTCTCCCCCTCCCCCCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19001.hp2 NA19001.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0002 a0010c0015t0002	a0010c0015t0002g0083 a0010c0015t0002g0083	1	369	0.0027	47	c.-18 others(58): Show c.-1878_-1877insCCCCCTCCCCCTCCCCCTCCTCCCCCCCTTCTCC CCCTCCCCCCTCC		KIF2C	ENSG00000142945.13	transcript	ENST00000372224.9	protein_coding					1781		chr1	TogoVar
KIF6_chr6_39324990_39730408	39346162	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	169	0.0059	47	c.223 others(64): Show c.2231+313_2231+314insGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAG		KIF6	ENSG00000164627.18	transcript	ENST00000287152.12	protein_coding	20/22						chr6	TogoVar
KLC3_chr19_45335750_45356519	45336376	T T	TTTGGGAG others(40): Show TTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAGGAGATCAAGACCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0172 a0001c0002t0001g0172	1	432	0.0023	47	c.-44 others(58): Show c.-4479_-4478insTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAG GAGATCAAGACCA		KLC3	ENSG00000104892.17	transcript	ENST00000391946.7	protein_coding					4373		chr19	TogoVar
KLHL29_chr2_23380179_23713606	23711342	C C	CTTTTTTT others(40): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0113 a0001c0002t0003g0113	1	4	0.2500	47	c.46 others(58): Show c.4678_*4679insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		KLHL29	ENSG00000119771.15	transcript	ENST00000486442.6	protein_coding					2737		chr2	TogoVar
KLHL36_chr16_84643511_84672686	84644147	G G	GAAAGAAA others(40): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0014 a0001c0002t0009g0014	1	439	0.0023	47	c.-45 others(58): Show c.-4519_-4518insAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAA AGAAAGAAAGAAA		KLHL36	ENSG00000135686.13	transcript	ENST00000564996.6	protein_coding					4363		chr16	TogoVar
KLK4_chr19_50901351_50916395	50913441	T T	TCCTGTCT others(40): Show TCCTGTCTCTGTCTCACCTTGCCTTCTCTCTCTGTCTGTGTCTCCACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	412	0.0024	47	c.-21 others(58): Show c.-2115_-2114insTGTGGAGACACAGACAGAGAGAGAAGGCAAGGTG AGACAGAGACAGG		KLK4	ENSG00000167749.12	transcript	ENST00000324041.6	protein_coding					2047		chr19	TogoVar
KLK5_chr19_50938303_50958038	50949723	T T	TTCCATGA others(40): Show TTCCATGACACCCCCAACCCCACTTCCCCGTCCCCACCAGCCCTCACC	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0043 a0001c0001t0004g0043	1	376	0.0027	47	c.335 others(61): Show c.335+85_335+131dupGGTGAGGGCTGGTGGGGACGGGGAAGTGGGG TTGGGGGTGTCATGGA		KLK5	ENSG00000167754.13	transcript	ENST00000336334.8	protein_coding	3/5						chr19	TogoVar
KLRC3_chr12_10407315_10425595	10418668	A A	ACCCCCTA others(40): Show ACCCCCTATACAAACCCACAAATAAAAAAAAAACACCTACTACACCAC	intron_variant intron_variant	MODIFIER	NA19063.hp1 NA19063.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0061 a0001c0001t0001g0061	1	446	0.0022	47	c.332 others(62): Show c.332-171_332-170insGTGGTGTAGTAGGTGTTTTTTTTTTATTTG TGGGTTTGTATAGGGGG		KLRC3	ENSG00000205810.9	transcript	ENST00000396439.7	protein_coding	3/6						chr12	TogoVar
KRT23_chr17_40917700_40942646	40929074	A A	AATAGCCT others(40): Show AATAGCCTCCATGATTACTGACTTGATCCGTGGTTGAAAATATTTCAG	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA19030.hp1 NA18522.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0049 a0001c0001t0003g0049	2	436	0.0046	47	c.637 others(62): Show c.637-514_637-468dupCTGAAATATTTTCAACCACGGATCAAGTCA GTAATCATGGAGGCTAT		KRT23	ENSG00000108244.17	transcript	ENST00000209718.8	protein_coding	4/8						chr17	TogoVar
KRTAP13-1_chr21_30391031_30401822	30396114	T T	TTCTCCTC others(40): Show TTCTCCTCCCGCTCCTGTGGTGGCTACCTGCACTACCCAGCCTCCTCC	frameshift_variant frameshift_variant	HIGH	NA18993.hp1 NA18993.hp1	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0000 a0008c0006t0001g0000	1	422	0.0024	47	c.30_ others(52): Show c.30_76dupCTCCTCCCGCTCCTGTGGTGGCTACCTGCACTACCCAGCC TCCTCCT	p.Cys others(4): Show p.Cys26fs	KRTAP13-1	ENSG00000198390.5	transcript	ENST00000355459.4	protein_coding	1/1	133/792	77/519	26/172		INFO_REALIGN_3_PRIME	chr21	TogoVar
LAMA5_chr20_62304065_62372312	62309635	G G	GGGTGGGA others(40): Show GGGTGGGAGGGGGCAGGGGGTGGAGGGGTGGGGGGGGTGGGAGGGGGT	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01192.hp2 HG02055.hp2 others(1): Show HG00423.hp1 HG01192.hp2 HG02055.hp2 HG03017.hp2	a0001 a0016 a0040 others(1): Show a0001 a0016 a0040 a0054	a0001c0010 a0016c0074 a0040c0097 others(1): Show a0001c0010 a0016c0074 a0040c0097 a0054c0023	a0001c0010t0002 a0016c0074t0001 a0040c0097t0002 others(1): Show a0001c0010t0002 a0016c0074t0001 a0040c0097t0002 a0054c0023t0001	a0001c0010t0002g0124 a0016c0074t0001g0107 a0040c0097t0002g0087 others(1): Show a0001c0010t0002g0124 a0016c0074t0001g0107 a0040c0097t0002g0087 a0054c0023t0001g0009	4	156	0.0256	47	c.109 others(64): Show c.10948+80_10948+81insACCCCCTCCCACCCCCCCCACCCCTCCA CCCCCTGCCCCCTCCCACC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79						chr20	TogoVar
LAMA5_chr20_62304065_62372312	62309636	G G	GGTGGGAG others(40): Show GGTGGGAGGGGGCAGGGGGTGGAGGGGGTGGGGGGGGTGGGAGGGGGT	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0112 a0001c0010t0001g0112	1	143	0.0070	47	c.109 others(64): Show c.10948+79_10948+80insACCCCCTCCCACCCCCCCCACCCCCTCC ACCCCCTGCCCCCTCCCAC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	79/79						chr20	TogoVar
LAMA5_chr20_62304065_62372312	62349742	G G	GGTGGGGG others(40): Show GGTGGGGGTGGGGGTGGTGATGGTGGGGGTGGGGGTGATGATGGTGAT	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0144 a0001c0007t0001g0144	1	170	0.0059	47	c.956 others(64): Show c.956+1961_956+1962insATCACCATCATCACCCCCACCCCCACCA TCACCACCCCCACCCCCAC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	6/79						chr20	TogoVar
LAP3_chr4_17572198_17612970	17580185	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATATATATATGTA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0154 a0001c0005t0003g0154	1	255	0.0039	47	c.218 others(62): Show c.218+246_218+247insATATATATATATATATATATATATATATAT ATATATATATATATGTA		LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12						chr4	TogoVar
LAP3_chr4_17572198_17612970	17580185	T T	TATATATA others(40): Show TATATATATATATATATATATATATATATATATATATATATGTATGTA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0025 a0001c0003t0003g0025	1	255	0.0039	47	c.218 others(62): Show c.218+246_218+247insATATATATATATATATATATATATATATAT ATATATATATGTATGTA		LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding	2/12						chr4	TogoVar
LARP4_chr12_50395885_50485004	50446356	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCCCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0191 a0001c0001t0001g0191	1	308	0.0032	47	c.804 others(64): Show c.804+4728_804+4729insCCCCCCCCCTTCCCCTCCCCCTCCCCCT CTCCCTCTCTCTCTCTCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446356	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCTCCCCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0181 a0003c0003t0001g0181	1	308	0.0032	47	c.804 others(64): Show c.804+4730_804+4731insCCCCCCCTTCCCCTCCCCCTCCCCCTCT CCCTCTCTCTCTCTCTCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446358	T T	TCTCTCTC others(40): Show TCTCTCTCCCCCCCCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0293 a0001c0001t0006g0293	1	303	0.0033	47	c.804 others(64): Show c.804+4722_804+4723insCCCCCCCCCCCTCCCCCTTCCCCTCCCC CTCCCCCTCTCCCTCTCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446358	T T	TCTCTCTC others(40): Show TCTCTCTCTCTCTCTCCCCCCCCCTTCCCCTCCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0178 a0001c0001t0001g0178	1	303	0.0033	47	c.804 others(64): Show c.804+4730_804+4731insCCCCCCCCTTCCCCTCCCCCCTCCCCCT CTCCCTCTCTCTCTCTCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446360	T T	TCTCCCCC others(40): Show TCTCCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA18954.hp2 NA18954.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0294 a0001c0001t0001g0294	1	290	0.0034	47	c.804 others(64): Show c.804+4720_804+4721insCCCCCCCCCTCCCCCTCCCCCTCCCCCT TCCCCTCCCCCTCTCCCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446364	T T	TCTCCCCC others(40): Show TCTCCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0264 a0004c0004t0001g0264	1	296	0.0034	47	c.804 others(64): Show c.804+4724_804+4725insCCCCCCCCCTCCCCCTCCCCCTCCCCCT TCCCCTCCCCCTCTCCCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446366	T T	TCTCCCCC others(40): Show TCTCCCCCCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0036 a0001c0001t0003g0036	1	282	0.0035	47	c.804 others(64): Show c.804+4726_804+4727insCCCCCCCCCTCCCCCTCCCCCTTCCCCT CCCCCTCCCCCTCTCCCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446368	T T	TCTCCCCC others(40): Show TCTCCCCCCCCCCTCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0225 a0001c0001t0001g0225	1	286	0.0035	47	c.804 others(64): Show c.804+4728_804+4729insCCCCCCCCCTCCCCCTCCCCCTCCCCCT TCCCCTCCCCCTCTCCCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LARP4_chr12_50395885_50485004	50446378	T T	TCTCTCCC others(40): Show TCTCTCCCCCCCCTCCCCCTCCCCCTTCCCCTCCCCCTCCCCCTCTCC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0148 a0001c0001t0005g0148	1	309	0.0032	47	c.804 others(64): Show c.804+4740_804+4741insCCCCCCCTCCCCCTCCCCCTTCCCCTCC CCCTCCCCCTCTCCCTCTC		LARP4	ENSG00000161813.23	transcript	ENST00000398473.7	protein_coding	8/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
LCN10_chr9_136733170_136747940	136736181	G G	GGGCCCAG others(40): Show GGGCCCAGGGAAGGGGGGCGCAGAGCCCGAGCCCCCAGGACAGAGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp1 HG02976.hp1 HG01074.hp1 HG02976.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0002	2	342	0.0058	47	c.33 others(58): Show c.3343_*3344insTGGCTCTGTCCTGGGGGCTCGGGCTCTGCGCCCC CCTTCCCTGGGCC		LCN10	ENSG00000187922.14	transcript	ENST00000497771.6	protein_coding					1988		chr9	TogoVar
LCN10_chr9_136733170_136747940	136736181	G G	GGGCCCAG others(40): Show GGGCCCAGGGAAGGGGGGCGCAGAGCCCGAGCCCCCGGGACAGAGCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00609.hp1 HG00609.hp2 others(44): Show HG00140.hp1 HG00609.hp1 HG00609.hp2 HG00738.hp1 HG01081.hp1 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp2 HG01433.hp1 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02027.hp1 HG02071.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG02818.hp1 HG03017.hp1 HG03209.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18944.hp1 NA18944.hp2 NA18981.hp2 NA18988.hp1 NA18995.hp1 NA18998.hp1 NA19009.hp2 NA19011.hp1 NA19063.hp2 NA20300.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 others(2): Show a0001c0001t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0010	a0001c0001t0001g0001 a0002c0002t0002g0002 a0002c0002t0002g0051 others(5): Show a0001c0001t0001g0001 a0002c0002t0002g0002 a0002c0002t0002g0051 a0002c0002t0002g0055 a0002c0002t0003g0003 a0002c0002t0003g0041 a0002c0002t0008g0048 a0002c0002t0010g0050	47	387	0.1214	47	c.33 others(58): Show c.3343_*3344insTGGCTCTGTCCCGGGGGCTCGGGCTCTGCGCCCC CCTTCCCTGGGCC		LCN10	ENSG00000187922.14	transcript	ENST00000497771.6	protein_coding					1988		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769194	A A	ACCCCCCC others(40): Show ACCCCCCCATGCACTGCCCCCCCCCGCCACCCCCCCATGCACTGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	330	0.0030	47	c.-47 others(58): Show c.-4707_-4706insGGGGCAGTGCATGGGGGGGTGGCGGGGGGGGGCA GTGCATGGGGGGG		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4677		chr9	TogoVar
LCN15_chr9_136754634_136769518	136769510	A A	ACCCCTCC others(40): Show ACCCCTCCATGCACTGCCCCCCCCCGCCACCCCTCCATGCACTGCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	347	0.0029	47	c.-50 others(58): Show c.-5023_-5022insGGGGCAGTGCATGGAGGGGTGGCGGGGGGGGGCA GTGCATGGAGGGG		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4993		chr9	TogoVar
LEP_chr7_128236278_128262629	128258721	C C	CTTTTCTT others(40): Show CTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	2	349	0.0057	47	c.39 others(58): Show c.3958_*3959insTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT		LEP	ENSG00000174697.5	transcript	ENST00000308868.5	protein_coding					1093		chr7	TogoVar
LEP_chr7_128236278_128262629	128258733	C C	CTTTCTTT others(40): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCTTTCTTTCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp2 HG00639.hp2 others(15): Show HG00099.hp2 HG00544.hp2 HG00639.hp2 HG00673.hp1 HG00673.hp2 HG01109.hp1 HG01123.hp1 HG01258.hp2 HG01361.hp1 HG01934.hp1 HG02080.hp1 HG02300.hp2 HG04115.hp1 HG04199.hp1 NA19002.hp2 NA19057.hp1 NA19065.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0027 a0001c0001t0042	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0021 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0021 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0083 a0001c0001t0004g0002 a0001c0001t0004g0005 a0001c0001t0004g0048 a0001c0001t0017g0005 a0001c0001t0027g0002 a0001c0001t0042g0001	18	228	0.0789	47	c.39 others(58): Show c.3970_*3971insTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TTTCTTTCTTTCT		LEP	ENSG00000174697.5	transcript	ENST00000308868.5	protein_coding					1105		chr7	TogoVar
LGSN_chr6_63270951_63324983	63281302	A A	AAAATATA others(40): Show AAAATATATATATATATATATATATATATATATATATATATATATAAT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0165 a0001c0001t0001g0165	1	305	0.0033	47	c.331 others(60): Show c.331-83_331-82insATTATATATATATATATATATATATATATATA TATATATATATATTT		LGSN	ENSG00000146166.17	transcript	ENST00000370657.9	protein_coding	3/3						chr6	TogoVar
LGSN_chr6_63270951_63324983	63281304	A A	AATATATA others(40): Show AATATATATATATATATATATATATATATATATAATAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0189 a0001c0001t0015g0189	1	108	0.0093	47	c.331 others(60): Show c.331-85_331-84insATATATATATTTATTATATATATATATATATA TATATATATATATAT		LGSN	ENSG00000146166.17	transcript	ENST00000370657.9	protein_coding	3/3						chr6	TogoVar
LHFPL7_chr22_24930098_24951694	24950354	C C	CCTCTTTG others(40): Show CCTCTTTGGTCAGGGTCTACCTCTGGGTATGTGCGAGCTGGCATCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	418	0.0024	47	c.-38 others(58): Show c.-3801_-3800insAGAGATGCCAGCTCGCACATACCCAGAGGTAGAC CCTGACCAAAGAG		LHFPL7	ENSG00000206069.7	transcript	ENST00000640159.2	protein_coding					3661		chr22	TogoVar
LHPP_chr10_124456823_124619141	124507550	G G	GGGGGGGT others(40): Show GGGGGGGTAGGGAGGATTTCAGGTGGGCGGGTAGACAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0217 a0001c0001t0001g0217	1	224	0.0045	47	c.624 others(64): Show c.624+9422_624+9423insGGGGGGTAGGGAGGATTTCAGGTGGGCG GGTAGACAGGATTTCAGGT		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6						chr10	TogoVar
LHPP_chr10_124456823_124619141	124507747	G G	GGGGGGGT others(40): Show GGGGGGGTAGGGAGGATTTCAGGTGGGCGGGTAGACAGGATTTCAGGT	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0244 a0001c0001t0001g0244	1	224	0.0045	47	c.625 others(64): Show c.625-9433_625-9432insGGGGGGTAGGGAGGATTTCAGGTGGGCG GGTAGACAGGATTTCAGGT		LHPP	ENSG00000107902.14	transcript	ENST00000368842.10	protein_coding	5/6						chr10	TogoVar
LLPH_chr12_66111555_66135750	66125067	C C	CCCCGCAA others(40): Show CCCCGCAAAAAAAAGAACTGGTAGGCGCTGGTAAGAACATGTTAAGAT	intron_variant intron_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0081 a0001c0001t0002g0081	1	362	0.0028	47	c.212 others(64): Show c.212-1096_212-1050dupATCTTAACATGTTCTTACCAGCGCCTAC CAGTTCTTTTTTTTGCGGG		LLPH	ENSG00000139233.7	transcript	ENST00000266604.7	protein_coding	2/2						chr12	TogoVar
LMCD1_chr3_8496823_8579668	8502322	T T	TATATATA others(40): Show TATATATATAAAATATATATAATATATATAATATATATTATATATAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0211 a0001c0001t0012g0211	1	248	0.0040	47	c.42+ others(60): Show c.42+349_42+350insTAAAATATATATAATATATATAATATATATTA TATATAAAATATATA		LMCD1	ENSG00000071282.12	transcript	ENST00000157600.8	protein_coding	1/5					INFO_REALIGN_3_PRIME	chr3	TogoVar
LMF1_chr16_848634_975984	857705	G G	GAGTGGTG others(40): Show GAGTGGTGTCTCGGGACGGGTGTGCGTGGTGTCACGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	242	0.0041	47	c.153 others(66): Show c.1530-3000_1530-2999insGCACACCCGTCCCGTGACACCACGCA CACCCGTCCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	857775	G G	GAGTGGTG others(40): Show GAGTGGTGTCACGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0266 a0001c0001t0002g0266	1	289	0.0035	47	c.153 others(66): Show c.1530-3070_1530-3069insGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGTGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	858301	T T	TGGGTGTG others(40): Show TGGGTGTGCGTGGTGTCTCGGGACGGGTGTGCAGTGGTGTCTCGGGAC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00609.hp1 HG01081.hp1 others(6): Show HG00423.hp1 HG00609.hp1 HG01081.hp1 HG02300.hp1 NA18967.hp2 NA19003.hp2 NA19009.hp2 NA19066.hp2 NA19077.hp2	a0001 a0003 a0001 a0003	a0001c0003 a0001c0005 a0001c0010 others(2): Show a0001c0003 a0001c0005 a0001c0010 a0001c0011 a0003c0015	a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 others(2): Show a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0001c0011t0001 a0003c0015t0001	a0001c0003t0001g0173 a0001c0003t0001g0237 a0001c0005t0001g0113 others(6): Show a0001c0003t0001g0173 a0001c0003t0001g0237 a0001c0005t0001g0113 a0001c0005t0001g0129 a0001c0005t0001g0130 a0001c0010t0001g0112 a0001c0011t0001g0149 a0001c0011t0001g0151 a0003c0015t0001g0014	9	247	0.0364	47	c.153 others(66): Show c.1530-3596_1530-3595insGTCCCGAGACACCACTGCACACCCGT CCCGAGACACCACGCACACCC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	858424	T T	TGCAGTGG others(40): Show TGCAGTGGTGTCACGGGACGGGTGCGAGTGGTGTCTCGGGACGGGTGC	intron_variant intron_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0052	1	288	0.0035	47	c.153 others(66): Show c.1530-3719_1530-3718insGCACCCGTCCCGAGACACCACTCGCA CCCGTCCCGTGACACCACTGC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	858592	T T	TGGTGTCT others(40): Show TGGTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0003 a0003	a0003c0030 a0003c0030	a0003c0030t0002 a0003c0030t0002	a0003c0030t0002g0008 a0003c0030t0002g0008	1	289	0.0035	47	c.153 others(66): Show c.1530-3887_1530-3886insCCTGCACACCCGTCCCGTGACACCAC TCACACCCGTCCCGAGACACC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	858776	C C	CAGTGGTG others(40): Show CAGTGGTGTCTCGGGAGGGGTGTGCAGTGGTGTCTCGGGACGGGTGTG	intron_variant intron_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0248 a0001c0003t0001g0248	1	287	0.0035	47	c.153 others(66): Show c.1530-4071_1530-4070insCACACCCGTCCCGAGACACCACTGCA CACCCCTCCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	858868	G G	GAGTGGTG others(40): Show GAGTGGTGTCTCGGGACGGGTGTGAGTGGTGTCTCGGGACGGGTGTGC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0004 a0004	a0004c0027 a0004c0027	a0004c0027t0001 a0004c0027t0001	a0004c0027t0001g0032 a0004c0027t0001g0032	1	168	0.0060	47	c.153 others(66): Show c.1530-4163_1530-4162insGCACACCCGTCCCGAGACACCACTCA CACCCGTCCCGAGACACCACT		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	858981	G G	GGGTGTGA others(40): Show GGGTGTGAGTGTTGTCTCGGGACCGGTGTGCAGTGTTGTCTCGGGACC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02698.hp2 HG01168.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0002 a0001c0008t0002 a0001c0001t0002 a0001c0008t0002	a0001c0001t0002g0230 a0001c0008t0002g0057 a0001c0001t0002g0230 a0001c0008t0002g0057	2	289	0.0069	47	c.153 others(66): Show c.1530-4276_1530-4275insGGTCCCGAGACAACACTGCACACCGG TCCCGAGACAACACTCACACC		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	859441	G G	GTGTCTCG others(40): Show GTGTCTCGGGACGGGTGTGAGTGGTGTCACGGGACGGGTGTGCAGTGA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0006 a0006c0021t0006	a0006c0021t0006g0020 a0006c0021t0006g0020	1	286	0.0035	47	c.153 others(66): Show c.1530-4736_1530-4735insTCACTGCACACCCGTCCCGTGACACC ACTCACACCCGTCCCGAGACA		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	10/10						chr16	TogoVar
LMF1_chr16_848634_975984	902664	G G	GTGGTGAC others(40): Show GTGGTGACCTCTGCACTGCCCACAGGACTCCTGTCTCTGCTGTGTGGT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0124 a0001c0003t0001g0124	1	291	0.0034	47	c.663 others(64): Show c.663+8266_663+8267insACCACACAGCAGAGACAGGAGTCCTGTG GGCAGTGCAGAGGTCACCA		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	4/10						chr16	TogoVar
LMOD1_chr1_201891456_201951548	201948342	A A	AAAAGAAA others(40): Show AAAAGAAAGAAAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAAAGAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19067.hp2 NA19067.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0338 a0001c0001t0001g0338	1	10	0.1000	47	c.-20 others(58): Show c.-2003_-2002insCTTTCTTTCTTTCTTTCTTTCTTCTTTCTTTCTT TCTTTCTTTCTTT		LMOD1	ENSG00000163431.14	transcript	ENST00000367288.5	protein_coding					1795		chr1	TogoVar
LMOD3_chr3_69101065_69127595	69110853	A A	AAAAAAAA others(40): Show AAAAAAAAAAAAAAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18951.hp2 NA18951.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0329 a0001c0002t0004g0329	1	255	0.0039	47	c.165 others(66): Show c.1657-1733_1657-1732insATATATATATATATATATATATATAT ATTTTTTTTTTTTTTTTTTTT		LMOD3	ENSG00000163380.16	transcript	ENST00000420581.7	protein_coding	2/2						chr3	TogoVar
LMTK2_chr7_98101862_98214638	98140148	T T	TGTCTGTC others(40): Show TGTCTGTCTGTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00741.hp1 HG02602.hp1 others(1): Show HG00558.hp2 HG00741.hp1 HG02602.hp1 NA19054.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0026 a0001c0001 a0005c0026	a0001c0001t0001 a0001c0001t0002 a0001c0001t0057 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0057 a0005c0026t0017	a0001c0001t0001g0213 a0001c0001t0002g0005 a0001c0001t0057g0198 others(1): Show a0001c0001t0001g0213 a0001c0001t0002g0005 a0001c0001t0057g0198 a0005c0026t0017g0210	4	293	0.0137	47	c.232 others(64): Show c.232-1249_232-1248insGTCTGTCTGTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTC		LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13						chr7	TogoVar

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