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
KCNMB2_chr3_178531436_178849429	178759247	A A	ATCCAAGA others(95): Show ATCCAAGAGGAGATATATATATCTCCAAGAGGATATATATATATATCTCT CTCTCTCTCCAAGAGGATATATATATATATATCTCCAAGAGGATATATAT CTC	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0163 a0001c0001t0003g0163	1	220	0.0045	102	c.-67 others(121): Show c.-67-48095_-67-48094insCCAAGAGGAGATATATATATCTCCAA GAGGATATATATATATATCTCTCTCTCTCTCCAAGAGGATATATATATAT ATATCTCCAAGAGGATATATATCTCT		KCNMB2	ENSG00000197584.13	transcript	ENST00000452583.6	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr3	TogoVar
KHDRBS3_chr8_135452456_135652610	135599908	A A	AGCAGCAG others(95): Show AGCAGCAGTGGCAGGCACCTCCCTCACAGCACCAGGCAGCAGTGGCAGGC ACCTCCCTCACAGCACCAGGCAGCAGTGGCAGGCACCTCCCTCACAGCAC CAG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01256.hp2 HG01258.hp2 others(22): Show HG00735.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01884.hp1 HG01891.hp2 HG01975.hp2 HG02055.hp1 HG02109.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03831.hp1 HG04184.hp2 HG04199.hp1 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0003c0004 a0001c0001 a0001c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0003c0004t0001	a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0002g0004 others(21): Show a0001c0001t0001g0231 a0001c0001t0001g0233 a0001c0001t0002g0004 a0001c0001t0002g0237 a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 a0001c0001t0002g0321 a0001c0001t0002g0322 a0001c0001t0002g0325 a0001c0001t0002g0327 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0334 a0001c0001t0008g0324 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0013 a0001c0002t0001g0014 a0003c0004t0001g0232	25	199	0.1256	102	c.808 others(119): Show c.808-6992_808-6891dupCCTCACAGCACCAGGCAGCAGTGGCAGG CACCTCCCTCACAGCACCAGGCAGCAGTGGCAGGCACCTCCCTCACAGCA CCAGGCAGCAGTGGCAGGCACCTC		KHDRBS3	ENSG00000131773.15	transcript	ENST00000355849.10	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr8	TogoVar
KIAA0930_chr22_45187244_45245894	45229010	C C	CTCACCCG others(95): Show CTCACCCGAAAGATCCCTCTCCACCCCCCAACCACCACTCACCCGAAAGA TCCCTCCCCATCCCCCCCACCACTCACCCGAAAGATCCCTCTCCACCCCC CTA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0190 a0001c0001t0014g0190	1	340	0.0029	102	c.64+ others(119): Show c.64+11629_64+11630insTAGGGGGGTGGAGAGGGATCTTTCGGGT GAGTGGTGGGGGGGATGGGGAGGGATCTTTCGGGTGAGTGGTGGTTGGGG GGTGGAGAGGGATCTTTCGGGTGA		KIAA0930	ENSG00000100364.19	transcript	ENST00000336156.10	protein_coding	1/9						chr22	TogoVar
KIF17_chr1_20659014_20723007	20712606	A A	ATATTATA others(95): Show ATATTATATATATAGATAATATTATCTATATTATATATAGATAATATTAT CTATATTATATATATAGATAATATTATCTATATTATATATAGATAATATT ATC	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0040 a0001c0040	a0001c0040t0001 a0001c0040t0001	a0001c0040t0001g0227 a0001c0040t0001g0227	1	287	0.0035	102	c.480 others(117): Show c.480+847_480+848insGATAATATTATCTATATATAATATAGATAA TATTATCTATATATATAATATAGATAATATTATCTATATATAATATAGAT AATATTATCTATATATATAATA		KIF17	ENSG00000117245.13	transcript	ENST00000400463.8	protein_coding	3/14						chr1	TogoVar
KIF1A_chr2_240708767_240825219	240780928	A A	ACACACAC others(95): Show ACACACACACACAGCGCCACACACACACAGCTCCACACACACACACAGCT CCACACACACACAGCTCCACACACACACACACAGCTCCACACACACACAG CTC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0299 a0001c0001t0002g0299	1	321	0.0031	102	c.882 others(119): Show c.882+1661_882+1662insGAGCTGTGTGTGTGTGGAGCTGTGTGTG TGTGTGTGGAGCTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTG TGTGTGTGGCGCTGTGTGTGTGTG		KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48						chr2	TogoVar
KIF1A_chr2_240708767_240825219	240781127	A A	ACACACAC others(95): Show ACACACACACACACACAGCTCCACACACACACACACACACACAGCTCCAC ACACACACACAGCTCCACACACACACACACAGCTCCACACACACACACAG CTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0012 a0001c0004t0012	a0001c0004t0012g0228 a0001c0004t0012g0228	1	328	0.0030	102	c.882 others(119): Show c.882+1462_882+1463insGAGCTGTGTGTGTGTGTGGAGCTGTGTG TGTGTGTGTGGAGCTGTGTGTGTGTGTGGAGCTGTGTGTGTGTGTGTGTG TGTGGAGCTGTGTGTGTGTGTGTG		KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	10/48						chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786744	G G	GCCCCTGA others(95): Show GCCCCTGAGTGAGGGGGTGGGGGACGCCATCAGGACCCCTGAGTGAGAGG GTAGGGGCCACCATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCA GGA	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02165.hp1 HG02040.hp1 HG02165.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0001 a0002c0002t0003 a0001c0007t0001 a0002c0002t0003	a0001c0007t0001g0072 a0002c0002t0003g0117 a0001c0007t0001g0072 a0002c0002t0003g0117	2	281	0.0071	102	c.430 others(117): Show c.430-232_430-231insTCCTGATGGTGGCCCCTACCCTCTCACTCA GGGGTCCTGATGGTGGCCCCTACCCTCTCACTCAGGGGTCCTGATGGCGT CCCCCACCCCCTCACTCAGGGG		KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48						chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786744	G G	GCCCCTGA others(95): Show GCCCCTGAGTGAGGGGGTGGGGGACGCCATCAGGACCCCTGAGTGAGAGG GTGGGGGCCAGTATCAGGACCCCTGAGTGAGAGGGTAGGGGCCACCATCA GGA	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18963.hp2 NA19010.hp1 NA18939.hp2 NA18963.hp2 NA19010.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0021 a0001c0004t0001 a0001c0004t0002 a0001c0004t0021	a0001c0004t0001g0069 a0001c0004t0002g0068 a0001c0004t0021g0070 a0001c0004t0001g0069 a0001c0004t0002g0068 a0001c0004t0021g0070	3	282	0.0106	102	c.430 others(117): Show c.430-232_430-231insTCCTGATGGTGGCCCCTACCCTCTCACTCA GGGGTCCTGATACTGGCCCCCACCCTCTCACTCAGGGGTCCTGATGGCGT CCCCCACCCCCTCACTCAGGGG		KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48						chr2	TogoVar
KIF1A_chr2_240708767_240825219	240786833	G G	GGCCACCA others(95): Show GGCCACCATCAGGACCCCTGAGTGAGGGGGTGGGGGCTGCCTGCTGGACC CCTGAGTGAGGGGGTGGGGGCTGCCATCAGGACCCCTGAGTGAGGGGGTG GGT	intron_variant intron_variant	MODIFIER	HG02015.hp1 NA18952.hp1 HG02015.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0011 a0001c0003t0003 a0001c0001t0011 a0001c0003t0003	a0001c0001t0011g0316 a0001c0003t0003g0046 a0001c0001t0011g0316 a0001c0003t0003g0046	2	129	0.0155	102	c.430 others(117): Show c.430-321_430-320insACCCACCCCCTCACTCAGGGGTCCTGATGG CAGCCCCCACCCCCTCACTCAGGGGTCCAGCAGGCAGCCCCCACCCCCTC ACTCAGGGGTCCTGATGGTGGC		KIF1A	ENSG00000130294.18	transcript	ENST00000498729.9	protein_coding	5/48						chr2	TogoVar
KIF26B_chr1_245149985_245714432	245614857	T T	TTCGGATA others(95): Show TTCGGATAGGGATGAGGAGATGCAGACCTTTAAAATCGGATAGGGATGAG GAGATGCAGACCTTTAAAATCGGATAGGGATGAGGAGATGCAGACCTTTA AAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0054 a0001c0002t0054	a0001c0002t0054g0101 a0001c0002t0054g0101	1	6	0.1667	102	c.209 others(121): Show c.2098+2953_2098+3054dupGATAGGGATGAGGAGATGCAGACCTT TAAAATCGGATAGGGATGAGGAGATGCAGACCTTTAAAATCGGATAGGGA TGAGGAGATGCAGACCTTTAAAATCG		KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	9/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
KIF27_chr9_83829099_83926432	83848109	C C	CATATATA others(95): Show CATATATATGATATATATGATATATCATATATATGATATATATGATATAT CATATATATGATATATATGATATATCATATATCTGATATATATGATATAT CAT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0001 a0005c0009t0001	a0005c0009t0001g0177 a0005c0009t0001g0177	1	192	0.0052	102	c.355 others(121): Show c.3556+1989_3556+1990insATGATATATCATATATATCAGATATA TGATATATCATATATATCATATATATGATATATCATATATATCATATATA TGATATATCATATATATCATATATAT		KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17						chr9	TogoVar
KIF27_chr9_83829099_83926432	83848109	C C	CATATATA others(95): Show CATATATATGATATATATGATATATCATATATATGATATATATGATATAT CATATATCTGATATATCTGATATATCATATATCTGATATATCTGATATAT CAT	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02809.hp1 HG02622.hp2 HG02809.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0266 a0001c0007t0004g0267 a0001c0007t0004g0266 a0001c0007t0004g0267	2	193	0.0104	102	c.355 others(121): Show c.3556+1989_3556+1990insATGATATATCAGATATATCAGATATA TGATATATCAGATATATCAGATATATGATATATCATATATATCATATATA TGATATATCATATATATCATATATAT		KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17						chr9	TogoVar
KIF27_chr9_83829099_83926432	83848109	C C	CATATATC others(95): Show CATATATCTGATATATATGATATATCATATATCTGATATATCTGATATAT CATATATCTGATATATCTGATATATCATATATCTGATATATCTGATATAT CAT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0193 a0001c0002t0001g0193	1	192	0.0052	102	c.355 others(121): Show c.3556+1989_3556+1990insATGATATATCAGATATATCAGATATA TGATATATCAGATATATCAGATATATGATATATCAGATATATCAGATATA TGATATATCATATATATCAGATATAT		KIF27	ENSG00000165115.15	transcript	ENST00000297814.7	protein_coding	16/17						chr9	TogoVar
KIF3B_chr20_32272651_32340011	32322764	A A	ATTTATAT others(95): Show ATTTATATATATTTATATATATATTTATATATTTATATATATTTATATAT ATATTTATATATATTTATATATTTATATATATTTATATATATTTATATTT ATT	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0124 a0001c0001t0019g0124	1	104	0.0096	102	c.174 others(121): Show c.1749-4006_1749-4005insTTATATATATTTATATATATATTTAT ATATTTATATATATTTATATATATATTTATATATATTTATATATTTATAT ATATTTATATATATTTATATTTATTT		KIF3B	ENSG00000101350.8	transcript	ENST00000375712.4	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr20	TogoVar
KLHL18_chr3_47277944_47351816	47316774	C C	CATATATA others(95): Show CATATATACGTATATATGTATACGTATATATGTGTATATATACACATATA CGTATATATGTGTATATATACACATATATACGTATATATGTATATGTGTG TGT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	305	0.0033	102	c.130 others(119): Show c.130-2871_130-2870insGTATATATGTATACGTATATATGTGTAT ATATACACATATACGTATATATGTGTATATATACACATATATACGTATAT ATGTATATGTGTGTGTATATATAC		KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL18_chr3_47277944_47351816	47316774	C C	CATATATA others(95): Show CATATATACGTATATATGTATATGTATATATGTGTATATATACACATATA CGTATATATGTGTATATATACACATATATACGTATATATGTATATGTGTG TGT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02280.hp2 HG02647.hp2 others(8): Show HG02109.hp1 HG02280.hp2 HG02647.hp2 HG03130.hp2 HG03139.hp2 HG03540.hp1 HG06807.hp1 NA18522.hp2 NA19043.hp1 NA19240.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0047 others(8): Show a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0053 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0179	11	315	0.0349	102	c.130 others(119): Show c.130-2871_130-2870insGTATATATGTATATGTATATATGTGTAT ATATACACATATACGTATATATGTGTATATATACACATATATACGTATAT ATGTATATGTGTGTGTATATATAC		KLHL18	ENSG00000114648.12	transcript	ENST00000232766.6	protein_coding	1/9					INFO_REALIGN_3_PRIME	chr3	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(95): Show GATATATATATACACAAATTCCTTGTAAGGGAGGTACATAGCTTTATATA TATATATATATATATATATATATATATATATATATATATATATATATATA TAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0064 a0001c0001t0002g0064	1	37	0.0270	102	c.180 others(121): Show c.1803-1482_1803-1481insATATATATATATATATATATATATAT ATATATATATATATATATATATATATATATATAAAGCTATGTACCTCCCT TACAAGGAATTTGTGTATATATATAT		KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10						chr13	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(95): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATACAAATTCCTTGTAAGGGAGGTACATAGCTT TAT	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0119 a0001c0002t0001g0119	1	37	0.0270	102	c.180 others(121): Show c.1803-1482_1803-1481insATAAAGCTATGTACCTCCCTTACAAG GAATTTGTATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATAT		KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10						chr13	TogoVar
KLHL1_chr13_69695597_70113452	69721062	G G	GATATATA others(95): Show GATATATATATATATATATATATATATATATATATATATATATATATATA TATATATATATATATATATACACAAATTCCTTGTAAGGGAGGTACATAGC TTT	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0132 a0001c0001t0020g0132	1	37	0.0270	102	c.180 others(121): Show c.1803-1482_1803-1481insAAAGCTATGTACCTCCCTTACAAGGA ATTTGTGTATATATATATATATATATATATATATATATATATATATATAT ATATATATATATATATATATATATAT		KLHL1	ENSG00000150361.12	transcript	ENST00000377844.9	protein_coding	8/10						chr13	TogoVar
KLHL23_chr2_169728832_169756878	169738992	T T	TCCTCCCC others(95): Show TCCTCCCCCTCTCCCCCTCCTCCCCCTCCCCCTCCTCCCCCTCCCCCTCC TCCCCCCTCCCTCTCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCTGC TCC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03471.hp2 HG03516.hp1 HG02258.hp2 HG03471.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0046 a0001c0001t0114 a0001c0001t0046 a0001c0001t0114	a0001c0001t0046g0286 a0001c0001t0046g0305 a0001c0001t0114g0287 a0001c0001t0046g0286 a0001c0001t0046g0305 a0001c0001t0114g0287	3	136	0.0221	102	c.121 others(121): Show c.1214-2386_1214-2385insCTCTCCCCCTCCTCCCCCTCCCCCTC CTCCCCCTCCCCCTCCTCCCCCCTCCCTCTCCTCCCCCTCCTCCCCCCTC CCTCTCCTCCCCCTGCTCCCCTCCCC		KLHL23	ENSG00000213160.10	transcript	ENST00000392647.7	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr2	TogoVar
KRT16_chr17_41604778_41617767	41614701	A A	AAATGGTC others(95): Show AAATGGTCTTCAAGGTCACCAAAGGCTATTAATACCCCAACTGGAGAGAG CGAAAGCCTTATCCAGGTTAAGCAGCACAAAAGTGAGAGAGCAGAGACTC GAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp2 HG01257.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	396	0.0025	102	c.-21 others(113): Show c.-2115_-2014dupCTCGAGTCTCTGCTCTCTCACTTTTGTGCTGCTT AACCTGGATAAGGCTTTCGCTCTCTCCAGTTGGGGTATTAATAGCCTTTG GTGACCTTGAAGACCATT		KRT16	ENSG00000186832.9	transcript	ENST00000301653.9	protein_coding					1935		chr17	TogoVar
KRT17_chr17_41614442_41629575	41629362	C C	CTCCTCAC others(95): Show CTCCTCACCCTGAAGGTGGAGGTGGATGTTGTCATTTCTCAAACATACAG GGCTGTGAATATTAGCAACCTCCCCCAACACACACCGTGACGCGGGACTG GAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0009	1	402	0.0025	102	c.-48 others(113): Show c.-4854_-4853insTTCCAGTCCCGCGTCACGGTGTGTGTTGGGGGAG GTTGCTAATATTCACAGCCCTGTATGTTTGAGAAATGACAACATCCACCT CCACCTTCAGGGTGAGGA		KRT17	ENSG00000128422.18	transcript	ENST00000311208.13	protein_coding					4788		chr17	TogoVar
KRTAP21-2_chr21_30741794_30752259	30742398	G G	GCCAGAGC others(95): Show GCCAGAGCCATATCCACAGCCATAGCCAGATCCAGAGCCATATCCACAGC TATAGCCAGAGCCAGAGCCATATCCACAGCCACATCCACAGCCAGAGCCA TAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	264	0.0038	102	c.45 others(113): Show c.4552_*4553insATATGGCTCTGGCTGTGGATGTGGCTGTGGATAT GGCTCTGGCTCTGGCTATAGCTGTGGATATGGCTCTGGATCTGGCTATGG CTGTGGATATGGCTCTGG		KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding					4395		chr21	TogoVar
KRTAP21-2_chr21_30741794_30752259	30743599	T T	TATATATA others(95): Show TATATATACGAATATATATACGTATATATATACGTATATATATACGTATA TATATACGAATATATTCGTATATATATACGAATATATTCGTATATATATA CGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0000 a0002c0002t0002g0000	1	279	0.0036	102	c.33 others(113): Show c.3351_*3352insTCGTATATATATACGAATATATTCGTATATATAT ACGAATATATTCGTATATATATACGTATATATATACGTATATATATACGT ATATATATTCGTATATAT		KRTAP21-2	ENSG00000187026.3	transcript	ENST00000333892.3	protein_coding					3194		chr21	TogoVar
LAMA5_chr20_62304065_62372312	62321414	C C	CGGGTGGG others(95): Show CGGGTGGGTTCAGAGGACGGGTGGGTTCAGAGGACGGGTGGGGTCAGTGG AGGGGTGGGGTCAGTGGAGGGGTAGGGTCAGTGGAGGGGTAGGGTCAGTG GAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01993.hp1 HG02129.hp2 others(3): Show HG01070.hp2 HG01993.hp1 HG02129.hp2 NA18612.hp1 NA18983.hp2 NA19088.hp2	a0002 a0033 a0057 others(1): Show a0002 a0033 a0057 a0090	a0002c0003 a0033c0121 a0057c0113 others(1): Show a0002c0003 a0033c0121 a0057c0113 a0090c0104	a0002c0003t0001 a0033c0121t0001 a0057c0113t0005 others(1): Show a0002c0003t0001 a0033c0121t0001 a0057c0113t0005 a0090c0104t0001	a0002c0003t0001g0139 a0002c0003t0001g0141 a0002c0003t0001g0145 others(3): Show a0002c0003t0001g0139 a0002c0003t0001g0141 a0002c0003t0001g0145 a0033c0121t0001g0078 a0057c0113t0005g0077 a0090c0104t0001g0126	6	159	0.0377	102	c.649 others(119): Show c.6497-525_6497-524insCTCCACTGACCCTACCCCTCCACTGACC CTACCCCTCCACTGACCCCACCCCTCCACTGACCCCACCCGTCCTCTGAA CCCACCCGTCCTCTGAACCCACCC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79						chr20	TogoVar
LAMA5_chr20_62304065_62372312	62321414	C C	CGGGTGGG others(95): Show CGGGTGGGTTCAGAGGACGGGTGGGTTCAGAGGACGGGTGGGGTCAGTGG AGGGGTGGGGTCAGTGGAGGGGTGGGGTCAGTGGAGGGGTAGGGTCAGTG GAG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0084 a0084	a0084c0119 a0084c0119	a0084c0119t0001 a0084c0119t0001	a0084c0119t0001g0073 a0084c0119t0001g0073	1	154	0.0065	102	c.649 others(119): Show c.6497-525_6497-524insCTCCACTGACCCTACCCCTCCACTGACC CCACCCCTCCACTGACCCCACCCCTCCACTGACCCCACCCGTCCTCTGAA CCCACCCGTCCTCTGAACCCACCC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79						chr20	TogoVar
LAMA5_chr20_62304065_62372312	62321414	C C	CGGGTGGG others(95): Show CGGGTGGGTTCAGAGGACGGGTGGGTTCAGAGGACGGGTGGGTTCAGAGG ACGGGTGGGGTCAGTGGAGGGGTAGGGTCAGTGGAGGGGTAGGGTCAGTG GAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0054 a0054	a0054c0023 a0054c0023	a0054c0023t0001 a0054c0023t0001	a0054c0023t0001g0009 a0054c0023t0001g0009	1	154	0.0065	102	c.649 others(119): Show c.6497-525_6497-524insCTCCACTGACCCTACCCCTCCACTGACC CTACCCCTCCACTGACCCCACCCGTCCTCTGAACCCACCCGTCCTCTGAA CCCACCCGTCCTCTGAACCCACCC		LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	48/79						chr20	TogoVar
LAMP1_chr13_113292239_113328672	113322727	G G	GTGCCGCT others(95): Show GTGCCGCTCTCTCTGAGGGGGTGGGGGTGCCGCTTTCTCTGAGGGGGTGG GGGTGCCGCTCTCTCTGAGGGGGTGGGGGTGCTGCTCTCTCCGAGGGGTG GAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0118 a0001c0001t0022g0118	1	354	0.0028	102	c.31 others(111): Show c.313_*314insCTCTCTGAGGGGGTGGGGGTGCCGCTTTCTCTGAGG GGGTGGGGGTGCCGCTCTCTCTGAGGGGGTGGGGGTGCTGCTCTCTCCGA GGGGTGGAATGCCGCT		LAMP1	ENSG00000185896.11	transcript	ENST00000332556.5	protein_coding	9/9				314	INFO_REALIGN_3_PRIME	chr13	TogoVar
LAP3_chr4_17572198_17612970	17577191	C C	CGCACGCG others(95): Show CGCACGCGCACGCGCACACGAATGCGGGCGCACACGAATGCGGGCGCACA CGAATGCGGGCGCACACGAATGCGGGCGCACACGAATGCGGGCGCACACG AAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18942.hp1 NA18947.hp2 NA19001.hp1 others(1): Show NA18942.hp1 NA18947.hp2 NA19001.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0041 a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0041	4	11	0.3636	102	c.-27 others(111): Show c.-275_-274insGCACGCGCACGCGCACACGAATGCGGGCGCACACGA ATGCGGGCGCACACGAATGCGGGCGCACACGAATGCGGGCGCACACGAAT GCGGGCGCACACGAAT		LAP3	ENSG00000002549.13	transcript	ENST00000226299.9	protein_coding					6		chr4	TogoVar
LATS2_chr13_20968036_21066586	20977644	A A	AAGATGGT others(95): Show AAGATGGTAAATTTTAATTTACCATTAAAATAATTAGATGGTAAATTTTA ATTTACCATTAAAATAATTAGATGGTAAATTTTAATTTACCATTAAAATA ATT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0184 a0001c0001t0006g0184	1	163	0.0061	102	c.277 others(121): Show c.2772+1945_2772+2046dupAATTATTTTAATGGTAAATTAAAATT TACCATCTAATTATTTTAATGGTAAATTAAAATTTACCATCTAATTATTT TAATGGTAAATTAAAATTTACCATCT		LATS2	ENSG00000150457.9	transcript	ENST00000382592.5	protein_coding	7/7						chr13	TogoVar
LCN15_chr9_136754634_136769518	136769483	A A	ACACCCCC others(95): Show ACACCCCCCATGCACTGCCCCCCCGCCACCCCCGCCACCCCCCATGCACT GCCCCCCCCGACACCCCGACACCCCCCATGCACTGCCCCCCCGCCCACCC CGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01169.hp1 HG01169.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0002 a0002c0002t0001g0002	1	295	0.0034	102	c.-49 others(113): Show c.-4996_-4995insGCGGGGTGGGCGGGGGGGCAGTGCATGGGGGGTG TCGGGGTGTCGGGGGGGGCAGTGCATGGGGGGTGGCGGGGGTGGCGGGGG GGCAGTGCATGGGGGGTG		LCN15	ENSG00000177984.7	transcript	ENST00000316144.6	protein_coding					4966		chr9	TogoVar
LIPG_chr18_49557057_49604185	49579001	G G	GGGGAGAG others(95): Show GGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG01496.hp1 HG02040.hp2 others(5): Show HG00558.hp1 HG01496.hp1 HG02040.hp2 HG02818.hp2 HG04184.hp1 NA18981.hp2 NA19005.hp1 NA19064.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0001c0001t0011 a0001c0001t0056 others(4): Show a0001c0001t0006 a0001c0001t0011 a0001c0001t0056 a0001c0001t0141 a0002c0002t0004 a0002c0002t0028 a0002c0002t0031	a0001c0001t0006g0011 a0001c0001t0006g0097 a0001c0001t0011g0078 others(5): Show a0001c0001t0006g0011 a0001c0001t0006g0097 a0001c0001t0011g0078 a0001c0001t0056g0285 a0001c0001t0141g0241 a0002c0002t0004g0290 a0002c0002t0028g0321 a0002c0002t0031g0021	8	93	0.0860	102	c.794 others(119): Show c.794-2278_794-2177dupAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGG		LIPG	ENSG00000101670.12	transcript	ENST00000261292.9	protein_coding	5/9					INFO_REALIGN_3_PRIME	chr18	TogoVar
LMF1_chr16_848634_975984	886545	A A	ATTCCCCA others(95): Show ATTCCCCAGGCCCCTCCCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTC CCACCCTAGGCCCCCGGCGTTCCCCAGGCCCCTCCCACCCTAGGCCCCCG GCG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00733.hp2 HG01069.hp2 others(22): Show HG00597.hp2 HG00733.hp2 HG01069.hp2 HG01109.hp2 HG01243.hp2 HG01361.hp1 HG02004.hp1 HG02148.hp1 HG02523.hp1 HG02602.hp2 HG02738.hp1 HG03225.hp1 HG03669.hp2 HG03942.hp2 HG04199.hp1 NA18943.hp1 NA18944.hp1 NA18964.hp1 NA18964.hp2 NA18970.hp1 NA18970.hp2 NA19010.hp2 NA19012.hp1 NA19068.hp2 NA20905.hp1	a0001 a0003 a0007 others(2): Show a0001 a0003 a0007 a0014 a0018	a0001c0001 a0001c0002 a0001c0008 others(6): Show a0001c0001 a0001c0002 a0001c0008 a0001c0013 a0003c0009 a0003c0032 a0007c0046 a0014c0062 a0018c0057	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(8): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0001c0002t0001 a0001c0008t0001 a0001c0013t0001 a0003c0009t0001 a0003c0032t0001 a0007c0046t0004 a0014c0062t0008 a0018c0057t0001	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0121 others(22): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0166 a0001c0001t0001g0171 a0001c0001t0001g0184 a0001c0001t0001g0203 a0001c0001t0001g0232 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0261 a0001c0001t0003g0175 a0001c0001t0019g0255 a0001c0002t0001g0058 a0001c0008t0001g0089 a0001c0013t0001g0168 a0003c0009t0001g0004 a0003c0009t0001g0006 a0003c0032t0001g0007 a0007c0046t0004g0036 a0014c0062t0008g0214 a0018c0057t0001g0147	25	118	0.2119	102	c.729 others(119): Show c.729+6360_729+6461dupCGCCGGGGGCCTAGGGTGGGAGGGGCCT GGGGAACGCCGGGGGCCTAGGGTGGGAGGGGCCTGGGGAACGCCGGGGGC CTAGGGTGGGAGGGGCCTGGGGAA		LMF1	ENSG00000103227.19	transcript	ENST00000262301.16	protein_coding	5/10						chr16	TogoVar
LOC114841035_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(95): Show GAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGATATATATATATATATATATATATATATATATATAT ATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01071.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	252	0.0040	102	c.-41 others(113): Show c.-4157_-4156insAGAGAGAGAGAAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATATA TATATATATATATATATA		LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding					3971		chr11	TogoVar
LOC114841035_chr11_64236095_64249132	64237127	G G	GAGAGAGA others(95): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGATATATATATATATATATATATATATATATATATA TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	278	0.0036	102	c.-41 others(113): Show c.-4153_-4152insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATAT ATATATATATATATATAT		LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding					3967		chr11	TogoVar
LOC122319696_chrX_149409877_149420506	149418487	A A	ATATATAT others(95): Show ATATATATATATCATATATATAATATATATTATATTATATATATATCATA TATATAATATATATTATATTATATATATATCATATATATAATATATATTA TAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00642.hp1 HG01081.hp1 others(17): Show HG00099.hp2 HG00642.hp1 HG01081.hp1 HG01175.hp2 HG01346.hp1 HG01361.hp1 HG01517.hp2 HG02273.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03490.hp1 HG03516.hp1 HG03516.hp2 HG03688.hp1 HG03834.hp1 HG04115.hp1 NA19006.hp1 NA19009.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0002t0001 a0001c0006t0001 a0001c0001t0001 a0001c0002t0001 a0001c0006t0001	a0001c0001t0001g0001 a0001c0002t0001g0003 a0001c0006t0001g0008 a0001c0001t0001g0001 a0001c0002t0001g0003 a0001c0006t0001g0008	20	124	0.1613	102	c.-30 others(113): Show c.-3011_-3010insATATAATATATATTATATATATGATATATATATA ATATAATATATATTATATATATGATATATATATAATATAATATATATTAT ATATATGATATATATATA		LOC122319696	ENSG00000287585.2	transcript	ENST00000653668.2	protein_coding					2982		chrX	TogoVar
LOC127933115_chrX_23778278_23788367	23780126	C C	CATATATA others(95): Show CATATATATGTGTATATATATGTGTATATATACACATATATATGTGTATA TATATGTGTATATATACACATATATATGTGTATATATATGTATATATATA CCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	105	0.0095	102	c.-31 others(113): Show c.-3152_-3151insATATATATGTGTATATATATGTGTATATATACAC ATATATATGTGTATATATATGTGTATATATACACATATATATGTGTATAT ATATGTATATATATACCT		LOC127933115	ENSG00000288706.1	transcript	ENST00000683890.1	protein_coding					3151		chrX	TogoVar
LRCOL1_chr12_132598151_132615582	132602031	G G	GCGATTCT others(95): Show GCGATTCTGTGTGTGACGCCGCCTGTGTGAGCCTCCGATTCTGTGTGTGA CGCCGCCTGTGTGAGCCTCCGATTCTGTGTGTGACGCCGCCTGTGTGAGC CTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp1 HG02055.hp2 HG02109.hp1 others(7): Show HG01106.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02451.hp1 HG02559.hp1 HG02630.hp2 HG02976.hp1 HG03195.hp2 HG03579.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0004 a0002c0002 a0003c0003 a0001c0004 a0002c0002 a0003c0003	a0001c0004t0001 a0002c0002t0005 a0003c0003t0007 a0001c0004t0001 a0002c0002t0005 a0003c0003t0007	a0001c0004t0001g0009 a0002c0002t0005g0024 a0002c0002t0005g0046 others(1): Show a0001c0004t0001g0009 a0002c0002t0005g0024 a0002c0002t0005g0046 a0003c0003t0007g0045	10	382	0.0262	102	c.13 others(113): Show c.1370_*1371insGAGGCTCACACAGGCGGCGTCACACACAGAATCG GAGGCTCACACAGGCGGCGTCACACACAGAATCGGAGGCTCACACAGGCG GCGTCACACACAGAATCG		LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding					1119		chr12	TogoVar
LRCOL1_chr12_132598151_132615582	132602271	G G	GATTCTGT others(95): Show GATTCTGTGTGTGACGCCGCCTGTGTGAGCCTCCGATTCTGTGTGTGACG CCGCCTGTGTGAGCCTCCGATTCTGTGTGTGACGCCGCCTGTGTGAGCCT CCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0024 a0002c0002t0005g0024	1	388	0.0026	102	c.11 others(113): Show c.1130_*1131insTGGAGGCTCACACAGGCGGCGTCACACACAGAAT CGGAGGCTCACACAGGCGGCGTCACACACAGAATCGGAGGCTCACACAGG CGGCGTCACACACAGAAT		LRCOL1	ENSG00000204583.10	transcript	ENST00000376608.9	protein_coding					879		chr12	TogoVar
LRGUK_chr7_134122340_134269595	134190878	A A	AAAGCAGT others(95): Show AAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGA TAGACAGTAGTTGAGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGC GGT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01358.hp1 HG02135.hp1 others(6): Show HG00323.hp1 HG01358.hp1 HG02135.hp1 HG02145.hp2 HG02258.hp2 HG02451.hp1 HG02523.hp1 HG03704.hp2 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0004 a0001c0001t0001 a0001c0001t0002 a0001c0003t0004	a0001c0001t0001g0086 a0001c0001t0001g0108 a0001c0001t0001g0159 others(6): Show a0001c0001t0001g0086 a0001c0001t0001g0108 a0001c0001t0001g0159 a0001c0001t0001g0169 a0001c0001t0001g0195 a0001c0001t0002g0030 a0001c0001t0002g0084 a0001c0003t0004g0033 a0001c0003t0004g0154	9	121	0.0744	102	c.133 others(119): Show c.1335-709_1335-708insAAGCAGTTCTGGGGATAGACAGTAGTTG AGCGGTAAGCAGTTCTGGGGATAGACAGTAGTTGAGCGGTAAGCAGTTCT GGGGATAGACAGTAGTTGAGCGGT		LRGUK	ENSG00000155530.4	transcript	ENST00000285928.3	protein_coding	11/19					INFO_REALIGN_3_PRIME	chr7	TogoVar
LRRC20_chr10_70293975_70387625	70367958	C C	CTATGTTA others(95): Show CTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG TTATGTTATGTTATGCTATGCTATGTTATGTTATGTTTTATGTTATGTTA TGT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0021 a0001c0001t0030g0021	1	31	0.0323	102	c.82+ others(117): Show c.82+8493_82+8494insACATAACATAACATAAAACATAACATAACA TAGCATAGCATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATA		LRRC20	ENSG00000172731.15	transcript	ENST00000446961.4	protein_coding	2/4						chr10	TogoVar
LRRC20_chr10_70293975_70387625	70367958	C C	CTATGTTA others(95): Show CTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTTTATGTTA TGT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0203 a0001c0001t0008g0203	1	31	0.0323	102	c.82+ others(117): Show c.82+8493_82+8494insACATAACATAAAACATAACATAACATAACA TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATA		LRRC20	ENSG00000172731.15	transcript	ENST00000446961.4	protein_coding	2/4						chr10	TogoVar
LRRC20_chr10_70293975_70387625	70367958	C C	CTATGTTA others(95): Show CTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTATGTTATGTTATGTTTTATGTTATGTTA TGT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG03710.hp1 HG01516.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0008 a0001c0001t0002 a0001c0001t0008	a0001c0001t0002g0158 a0001c0001t0008g0315 a0001c0001t0002g0158 a0001c0001t0008g0315	2	32	0.0625	102	c.82+ others(117): Show c.82+8493_82+8494insACATAACATAACATAAAACATAACATAACA TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATA		LRRC20	ENSG00000172731.15	transcript	ENST00000446961.4	protein_coding	2/4						chr10	TogoVar
LRRC20_chr10_70293975_70387625	70367958	C C	CTATGTTA others(95): Show CTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATGTTATG TTATGTTATGTTATGTTATGTTATGTTTTATGTTATGTTATGTTATGTTA TGT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG04115.hp1 HG00621.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0323 a0001c0001t0006g0199 a0001c0001t0001g0323 a0001c0001t0006g0199	2	32	0.0625	102	c.82+ others(117): Show c.82+8493_82+8494insACATAACATAACATAACATAACATAAAACA TAACATAACATAACATAACATAACATAACATAACATAACATAACATAACA TAACATAACATAACATAACATA		LRRC20	ENSG00000172731.15	transcript	ENST00000446961.4	protein_coding	2/4						chr10	TogoVar
LRRC4C_chr11_40109209_41464652	40696747	T T	TGTATATA others(95): Show TGTATATATATATATATATATATATATATATATATATATATCTGAGTATA TATATATATATATATATATCTGAGTATATATATATATATATATATATATC TGA	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	47	0.0213	102	c.-40 others(123): Show c.-406-48470_-406-48469insTCAGATATATATATATATATATAT ATATACTCAGATATATATATATATATATATATACTCAGATATATATATAT ATATATATATATATATATATATATATAC		LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	2/6						chr11	TogoVar
LSP1_chr11_1848084_1897263	1873969	G G	GGAGGAGG others(95): Show GGAGGAGGGAGGCCGGCGGAGGAGGGAGGCTGGCAGAGCAGGGAGGCCGG CAGAGGAGGGAGGCCGGCAGAGGAGGGAGGCTGGCAGAGCAGGGAGCCCG GCA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG02818.hp2 HG03225.hp2 HG00639.hp1 HG02818.hp2 HG03225.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0003 a0002c0005t0001g0159 a0002c0005t0001g0003 a0002c0005t0001g0159	3	193	0.0155	102	c.54- others(117): Show c.54-6023_54-6022insCCCGGCAGAGGAGGGAGGCCGGCGGAGGAG GGAGGCTGGCAGAGCAGGGAGGCCGGCAGAGGAGGGAGGCCGGCAGAGGA GGGAGGCTGGCAGAGCAGGGAG		LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
LTBP2_chr14_74493183_74617237	74564139	A A	ATATATAT others(95): Show ATATATATATATTTATATATATATTTATATATATATATTTATATATATAT TTATATATATATATTTATATATATATTTATATATATATATTTATATATAT ATT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	248	0.0040	102	c.831 others(119): Show c.831-8447_831-8446insAATATATATATAAATATATATATATAAA TATATATATAAATATATATATATAAATATATATATAAATATATATATATA AATATATATATAAATATATATATA		LTBP2	ENSG00000119681.12	transcript	ENST00000261978.9	protein_coding	3/35						chr14	TogoVar
LYPD8_chr1_248734415_248760759	248747348	C C	CCAGCACC others(95): Show CCAGCACCCACCCAGGGCATCGCCCGCACGGCCAGCAGCACCCACCCAGG GCATCGCCCGCACGGCCAGCAGCACCCACCCAGGGCATCGCCCGCACGGC CAG	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	356	0.0028	102	c.337 others(117): Show c.337+940_337+941insCTGGCCGTGCGGGCGATGCCCTGGGTGGGT GCTGCTGGCCGTGCGGGCGATGCCCTGGGTGGGTGCTGCTGGCCGTGCGG GCGATGCCCTGGGTGGGTGCTG		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/6						chr1	TogoVar
MAEA_chr4_1284891_1345137	1298329	T T	TGCCGTCT others(95): Show TGCCGTCTTCTGGTTATCCACGAAGAGGCACACGCGCCGTCTTCTGGTTA TCCACGAAGAGGCACACGCGCCGTCTTCTGGTTATCCACGAAGAGGCACA CGC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp2 HG02559.hp1 others(14): Show HG02109.hp1 HG02109.hp2 HG02559.hp1 HG02630.hp1 HG02647.hp1 HG02717.hp1 HG02717.hp2 HG02970.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03579.hp1 NA19043.hp2 NA19240.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0007 a0001c0003t0010 a0001c0003t0001 a0001c0003t0007 a0001c0003t0010	a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0268 others(14): Show a0001c0003t0001g0167 a0001c0003t0001g0168 a0001c0003t0001g0268 a0001c0003t0001g0269 a0001c0003t0001g0272 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0281 a0001c0003t0001g0285 a0001c0003t0007g0267 a0001c0003t0007g0270 a0001c0003t0007g0271 a0001c0003t0010g0169	17	279	0.0609	102	c.69+ others(117): Show c.69+8363_69+8464dupTCCACGAAGAGGCACACGCGCCGTCTTCTG GTTATCCACGAAGAGGCACACGCGCCGTCTTCTGGTTATCCACGAAGAGG CACACGCGCCGTCTTCTGGTTA		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGEC1_chrX_141898894_141914374	141906202	T T	TCCACTCC others(95): Show TCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATTGAGTA TTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19240.hp2 NA19240.hp2	a0111 a0111	a0111c0101 a0111c0101	a0111c0101t0001 a0111c0101t0001	a0111c0101t0001g0010 a0111c0101t0001g0010	1	356	0.0028	102	c.798 others(109): Show c.798_799insCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTG AGGGTTTTCCCCAG	p.Ser others(115): Show p.Ser266_Ser267insProLeuGlnIleProValSerArgSerPheSe rSerThrLeuLeuSerIlePheGlnSerSerProGluArgThrGlnSerT hrPheGluGlyPheProGln	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1085/4256	799/3429	267/1142			chrX	TogoVar

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