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	status	chr	external
KRT4_chr12_52801549_52819116	52808420	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0048 a0001c0001t0001g0048	1	468	0.0021	0	c.100 others(6): Show c.1000-1G>A		KRT4	ENSG00000170477.13	transcript	ENST00000551956.2	protein_coding	5/8					chr12	TogoVar
KRT74_chr12_52560782_52578843	52571456	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02622.hp2 HG02622.hp2	a0016 a0016	a0016c0030 a0016c0030	a0016c0030t0002 a0016c0030t0002	a0016c0030t0002g0100 a0016c0030t0002g0100	1	446	0.0022	0	c.748 others(5): Show c.748-2A>G		KRT74	ENSG00000170484.10	transcript	ENST00000305620.3	protein_coding	3/8					chr12	TogoVar
LAD1_chr1_201375833_201404324	201385806	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0086 a0002c0002t0003g0086	1	430	0.0023	0	c.102 others(6): Show c.1027-1G>A		LAD1	ENSG00000159166.15	transcript	ENST00000391967.7	protein_coding	3/9					chr1	TogoVar
LAD1_chr1_201375833_201404324	201385807	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19075.hp1 NA19075.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0086 a0002c0002t0003g0086	1	430	0.0023	0	c.102 others(6): Show c.1027-2A>G		LAD1	ENSG00000159166.15	transcript	ENST00000391967.7	protein_coding	3/9					chr1	TogoVar
LAIR2_chr19_54497831_54515687	54503698	A A	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0158 a0001c0001t0002g0158	1	474	0.0021	0	c.35- others(4): Show c.35-2A>C		LAIR2	ENSG00000167618.10	transcript	ENST00000301202.7	protein_coding	1/4					chr19	TogoVar
LAMA5_chr20_62304065_62372312	62316035	TGGCACCC others(26): Show TGGCACCCTGGAGGGCAGCCCACACTGCGGGGGA	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01515.hp1 HG01515.hp1	a0046 a0046	a0046c0116 a0046c0116	a0046c0116t0001 a0046c0116t0001	a0046c0116t0001g0079 a0046c0116t0001g0079	1	184	0.0054	-33	c.775 others(45): Show c.7757-10_7779delTCCCCCGCAGTGTGGGCTGCCCTCCAGGGTGCC	p.Val others(6): Show p.Val2586fs	LAMA5	ENSG00000130702.15	transcript	ENST00000252999.7	protein_coding	58/80	7846/11426	7757/11088	2586/3695		chr20	TogoVar
LAMB2_chr3_49116114_49138050	49128820	C C	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	292	0.0034	0	c.173 others(6): Show c.1732-1G>T		LAMB2	ENSG00000172037.14	transcript	ENST00000305544.9	protein_coding	13/31					chr3	TogoVar
LAMB4_chr7_108018553_108135361	108116162	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA21309.hp2 NA21309.hp2	a0042 a0042	a0042c0032 a0042c0032	a0042c0032t0002 a0042c0032t0002	a0042c0032t0002g0287 a0042c0032t0002g0287	1	290	0.0034	0	c.35- others(4): Show c.35-1G>C		LAMB4	ENSG00000091128.13	transcript	ENST00000388781.8	protein_coding	2/33					chr7	TogoVar
LAMC3_chr9_131004174_131099473	131069577	G G	GAACCCAG others(24): Show GAACCCAGCACGCACTGCCCCTGGCCCCTCTA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00609.hp2 HG01123.hp1 HG01943.hp1 others(44): Show HG00609.hp2 HG01123.hp1 HG01943.hp1 HG02129.hp1 HG02135.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp2 HG02683.hp1 HG02698.hp2 HG02922.hp1 HG02922.hp2 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03704.hp1 HG03710.hp1 HG03831.hp1 HG04115.hp2 NA18906.hp2 NA18939.hp2 NA18946.hp2 NA18949.hp2 NA18953.hp2 NA18954.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18971.hp2 NA18977.hp1 NA18989.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19010.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19079.hp2 NA19087.hp2 NA20905.hp2	a0003 a0006 a0008 others(18): Show a0003 a0006 a0008 a0011 a0014 a0017 a0019 a0021 a0022 a0024 a0026 a0032 a0034 a0044 a0066 a0076 a0086 a0087 a0089 a0092 a0094	a0003c0010 a0003c0012 a0003c0020 others(23): Show a0003c0010 a0003c0012 a0003c0020 a0006c0047 a0008c0032 a0008c0070 a0008c0078 a0008c0085 a0011c0003 a0014c0125 a0017c0071 a0019c0164 a0021c0052 a0022c0182 a0024c0039 a0026c0141 a0032c0221 a0034c0147 a0044c0165 a0066c0190 a0076c0123 a0086c0061 a0087c0090 a0089c0163 a0092c0208 a0094c0199	a0003c0010t0002 a0003c0012t0002 a0003c0012t0028 others(27): Show a0003c0010t0002 a0003c0012t0002 a0003c0012t0028 a0003c0020t0002 a0006c0047t0002 a0008c0032t0002 a0008c0032t0021 a0008c0070t0027 a0008c0078t0002 a0008c0085t0002 a0011c0003t0001 a0011c0003t0002 a0011c0003t0022 a0014c0125t0002 a0017c0071t0002 a0019c0164t0002 a0021c0052t0002 a0022c0182t0002 a0024c0039t0001 a0026c0141t0001 a0032c0221t0002 a0034c0147t0002 a0044c0165t0001 a0066c0190t0002 a0076c0123t0002 a0086c0061t0002 a0087c0090t0002 a0089c0163t0002 a0092c0208t0023 a0094c0199t0002	a0003c0010t0002g0081 a0003c0010t0002g0151 a0003c0010t0002g0205 others(44): Show a0003c0010t0002g0081 a0003c0010t0002g0151 a0003c0010t0002g0205 a0003c0010t0002g0226 a0003c0012t0002g0017 a0003c0012t0002g0060 a0003c0012t0002g0074 a0003c0012t0028g0018 a0003c0020t0002g0152 a0003c0020t0002g0195 a0006c0047t0002g0194 a0006c0047t0002g0215 a0008c0032t0002g0025 a0008c0032t0002g0034 a0008c0032t0021g0033 a0008c0070t0027g0069 a0008c0078t0002g0023 a0008c0085t0002g0224 a0011c0003t0001g0168 a0011c0003t0002g0067 a0011c0003t0002g0159 a0011c0003t0002g0162 a0011c0003t0002g0167 a0011c0003t0002g0177 a0011c0003t0002g0185 a0011c0003t0002g0187 a0011c0003t0002g0231 a0011c0003t0022g0160 a0014c0125t0002g0132 a0017c0071t0002g0014 a0019c0164t0002g0267 a0021c0052t0002g0293 a0021c0052t0002g0328 a0022c0182t0002g0283 a0024c0039t0001g0227 a0024c0039t0001g0239 a0026c0141t0001g0158 a0032c0221t0002g0027 a0034c0147t0002g0078 a0044c0165t0001g0269 a0066c0190t0002g0314 a0076c0123t0002g0235 a0086c0061t0002g0122 a0087c0090t0002g0051 a0089c0163t0002g0268 a0092c0208t0023g0360 a0094c0199t0002g0296	47	358	0.1313	31	c.289 others(45): Show c.2891-32_2891-2dupAACCCAGCACGCACTGCCCCTGGCCCCTCTA		LAMC3	ENSG00000050555.19	transcript	ENST00000361069.9	protein_coding	16/27				INFO_REALIGN_3_PRIME	chr9	TogoVar
LARS2_chr3_45383576_45554407	45399787	CCCTTTCC others(946): Show CCCTTTCCACCCTTCCCCCAAAGTCCCCAAAGTCCATTGTATCATTCTTA TGCCTCATAGCTTAGCTCCCACATATCAGTGAGAACATAAGATGTTTGGT TTTCCATTCCTGAGTTACTTCATTTAGAATAATAGTCTCCAATCTCACCC AGGTCACTGCAAATACTGTTAATTCATTCCTTTCAAAAAATAAGTTTTTA AAAGAGAAAAAAAAAAGATATATGGGTACTTAACACTTAGAGGTTGTTTG GCATTATTTTGGACATTCTTTAGCTTAAACCAGGGCTTTGAATTTTGCTT TTTGACATTTTAATTGATTTACATTCTGGGAACACTCTTTTTAAAAGGAA ACTTTTAAAATGTTAAATTATTACTTTGTGTAAAATGCCAAAATATTATG TATACATGCAGAGTTCCCAGAAAATGCTTAATAAATACTCATTGTCGTTC TTTCCTAGAAATCGAAGCCAAAATTTTACGTGCTTTCCATGTTCCCTTAT CCTTCTGGTAAGCTGCACATGGGCCATGTGCGTGTCTACACCATCAGCGA CACCATAGCACGGTTCCAGAAGATGAGAGGGATGCAGGTAAGAACAGGTG CCTGCTGGAGCAGCCCTTGTCTGCCACACGCAGGGTTGGCATGTAGTAAT ATGTGTTCAAGACAAATGAAGAAAACCAACTTTAGTTAAGATTAGGACAG CTTTGAAGATGGACATGAAAAGCTCAGTGTTTCCTTTTATGGATTAGATG ATATTATAATAAAGCATCTAGGTTAATTGGGGGGCAGCCATGAGTTGGGT GTTGTGCTGGGGTGGAGATCAGATGGGAATGGGGTGAAAGGTAGATACAA ATGTGGATAACACTGATAATCTTCCCAGGAGATACTCACCCATGAGTAGA GAATCATTGTATATAACGAACTGAGGTCAACAGTACAAATACACATCAGT GCTA	C C	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18995.hp1 NA18995.hp1	a0006 a0006	a0006c0023 a0006c0023	a0006c0023t0001 a0006c0023t0001	a0006c0023t0001g0135 a0006c0023t0001g0135	1	240	0.0042	-953	c.235 others(15): Show c.235-457_363+367del		LARS2	ENSG00000011376.12	transcript	ENST00000645846.2	protein_coding	4/22					chr3	TogoVar
LCN12_chr9_136947273_136960497	136953641	CCTCAGCA others(57): Show CCTCAGCATGGACCTGCCAGCTTCCGGAGCCTTCCGCCTCCACCTGTCCC CTCCTACAGAGGCCA	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG02523.hp2 HG02523.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0036 a0003c0006t0001g0036	1	380	0.0026	-64	c.252 others(74): Show c.252-58_257delCTCAGCATGGACCTGCCAGCTTCCGGAGCCTTCCG CCTCCACCTGTCCCCTCCTACAGAGGCCA	p.Gly others(11): Show p.Gly85_Gln86del	LCN12	ENSG00000184925.12	transcript	ENST00000371633.8	protein_coding	3/6		252/579	84/192		chr9	TogoVar
LDLRAD1_chr1_54002298_54023186	54010411	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19043.hp2 NA19043.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0072 a0007c0009t0001g0072	1	398	0.0025	0	c.341 others(5): Show c.341-1G>A		LDLRAD1	ENSG00000203985.11	transcript	ENST00000371360.2	protein_coding	4/5					chr1	TogoVar
LILRA2_chr19_54568790_54595287	54587200	G G	A A	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00544.hp2 HG00558.hp2 HG00597.hp2 others(65): Show HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00609.hp2 HG00673.hp2 HG00735.hp2 HG01074.hp2 HG01123.hp2 HG01261.hp1 HG01358.hp2 HG01928.hp1 HG01993.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02165.hp2 HG02273.hp2 HG02300.hp1 HG02523.hp1 HG02683.hp2 HG02895.hp1 HG03453.hp2 HG03704.hp2 NA18612.hp1 NA18747.hp2 NA18950.hp1 NA18951.hp2 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18968.hp2 NA18970.hp2 NA18977.hp1 NA18977.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp2 NA18983.hp1 NA18990.hp2 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18998.hp1 NA19001.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19009.hp2 NA19012.hp1 NA19057.hp2 NA19059.hp1 NA19060.hp1 NA19062.hp2 NA19068.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp2 NA19086.hp2 NA19089.hp1	a0001 a0017 a0024 others(1): Show a0001 a0017 a0024 a0025	a0001c0001 a0017c0023 a0024c0021 others(1): Show a0001c0001 a0017c0023 a0024c0021 a0025c0028	a0001c0001t0003 a0001c0001t0010 a0001c0001t0035 others(3): Show a0001c0001t0003 a0001c0001t0010 a0001c0001t0035 a0017c0023t0034 a0024c0021t0003 a0025c0028t0046	a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0024 others(12): Show a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0082 a0001c0001t0003g0086 a0001c0001t0010g0003 a0001c0001t0035g0042 a0017c0023t0034g0003 a0024c0021t0003g0003 a0025c0028t0046g0003	68	426	0.1596	0	c.130 others(6): Show c.1307-1G>A		LILRA2	ENSG00000239998.7	transcript	ENST00000391738.8	protein_coding	7/7					chr19	TogoVar
LILRA6_chr19_54231590_54247790	54242306	GGGCCCTA others(13): Show GGGCCCTAGATGGAAATCAGA	G G	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	NA18522.hp1 NA18522.hp1	a0059 a0059	a0059c0053 a0059c0053	a0059c0053t0060 a0059c0053t0060	a0059c0053t0060g0187 a0059c0053t0060g0187	1	448	0.0022	-20	c.71- others(28): Show c.71-16_74delTCTGATTTCCATCTAGGGCC	p.Gly others(4): Show p.Gly24fs	LILRA6	ENSG00000244482.11	transcript	ENST00000396365.7	protein_coding	3/8	113/3848	71/1446	24/481		chr19	TogoVar
LIPJ_chr10_88581762_88611976	88594666	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02071.hp1 HG02080.hp1 HG02280.hp2 others(10): Show HG02071.hp1 HG02080.hp1 HG02280.hp2 HG02970.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp2 HG03239.hp2 HG03540.hp1 HG03579.hp2 HG04204.hp2 HG04228.hp2 NA19030.hp2	a0001 a0011 a0012 a0001 a0011 a0012	a0001c0003 a0011c0013 a0012c0012 a0001c0003 a0011c0013 a0012c0012	a0001c0003t0002 a0011c0013t0002 a0012c0012t0002 a0001c0003t0002 a0011c0013t0002 a0012c0012t0002	a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0040 others(3): Show a0001c0003t0002g0015 a0001c0003t0002g0016 a0001c0003t0002g0040 a0001c0003t0002g0109 a0011c0013t0002g0110 a0012c0012t0002g0038	13	408	0.0319	0	c.330 others(5): Show c.330-1G>C		LIPJ	ENSG00000204022.9	transcript	ENST00000371939.7	protein_coding	5/10					chr10	TogoVar
LIPJ_chr10_88581762_88611976	88596265	CTTATT CTTATT	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG00280.hp2 HG01070.hp2 HG01099.hp2 others(1): Show HG00280.hp2 HG01070.hp2 HG01099.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0105 a0001c0001t0001g0007 a0001c0001t0001g0105	4	408	0.0098	-5	c.440 others(16): Show c.440-6_440-2delTTTTA		LIPJ	ENSG00000204022.9	transcript	ENST00000371939.7	protein_coding	6/10				INFO_REALIGN_3_PRIME	chr10	TogoVar
LMF2_chr22_50497949_50512702	50504985	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0042 a0001c0042	a0001c0042t0001 a0001c0042t0001	a0001c0042t0001g0102 a0001c0042t0001g0102	1	412	0.0024	0	c.125 others(6): Show c.1255-1G>A		LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	9/13					chr22	TogoVar
LMNTD1_chr12_25471082_25558283	25552991	T T	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01891.hp2 HG01891.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0360 a0006c0012t0001g0360	1	386	0.0026	0	c.-30 others(5): Show c.-30-2A>C		LMNTD1	ENSG00000152936.11	transcript	ENST00000458174.7	protein_coding	1/9					chr12	TogoVar
LMO2_chr11_33853576_33897076	33869989	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03704.hp2 HG03704.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0047 a0001c0002t0008g0047	1	440	0.0023	0	c.-27 others(6): Show c.-271-2A>G		LMO2	ENSG00000135363.12	transcript	ENST00000257818.3	protein_coding	2/5					chr11	TogoVar
LOC102725191_chr7_12499441_12546270	12531011	A A	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02922.hp2 HG02922.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0308 a0003c0003t0001g0308	1	420	0.0024	0	c.688 others(5): Show c.688-2A>G		LOC102725191	ENSG00000226690.9	transcript	ENST00000636804.2	protein_coding	4/5					chr7	TogoVar
LOC400499_chr16_11367015_11532247	11391862	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00408.hp2 HG00673.hp1 HG02129.hp1 others(6): Show HG00408.hp2 HG00673.hp1 HG02129.hp1 HG02132.hp1 HG02155.hp2 HG02165.hp1 NA18945.hp1 NA18969.hp2 NA19005.hp1	a0002 a0024 a0036 others(3): Show a0002 a0024 a0036 a0101 a0102 a0213	a0002c0001 a0024c0064 a0036c0017 others(3): Show a0002c0001 a0024c0064 a0036c0017 a0101c0089 a0102c0103 a0213c0207	a0002c0001t0003 a0024c0064t0003 a0036c0017t0003 others(3): Show a0002c0001t0003 a0024c0064t0003 a0036c0017t0003 a0101c0089t0003 a0102c0103t0003 a0213c0207t0003	a0002c0001t0003g0201 a0002c0001t0003g0202 a0002c0001t0003g0247 others(6): Show a0002c0001t0003g0201 a0002c0001t0003g0202 a0002c0001t0003g0247 a0002c0001t0003g0256 a0024c0064t0003g0172 a0036c0017t0003g0217 a0101c0089t0003g0248 a0102c0103t0003g0289 a0213c0207t0003g0238	9	308	0.0292	0	c.853 others(6): Show c.8536-1G>C		LOC400499	ENSG00000188897.10	transcript	ENST00000696174.1	protein_coding	57/66					chr16	TogoVar
LONP1_chr19_5686834_5725146	5694554	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18954.hp1 NA18954.hp1	a0020 a0020	a0020c0021 a0020c0021	a0020c0021t0001 a0020c0021t0001	a0020c0021t0001g0267 a0020c0021t0001g0267	1	384	0.0026	0	c.215 others(6): Show c.2155-2A>G		LONP1	ENSG00000196365.12	transcript	ENST00000360614.8	protein_coding	14/17					chr19	TogoVar
LPA_chr6_160526482_160669275	160617277	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02040.hp2 HG02040.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0148 a0002c0002t0003g0148	1	146	0.0068	0	c.210 others(6): Show c.2102-1G>A		LPA	ENSG00000198670.13	transcript	ENST00000316300.10	protein_coding	13/38					chr6	TogoVar
LRRC37A2_chr17_46507468_46560646	46523791	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01167.hp1 HG02257.hp2 HG02451.hp1 others(2): Show HG01167.hp1 HG02257.hp2 HG02451.hp1 HG02602.hp1 HG03704.hp2	a0005 a0007 a0008 a0005 a0007 a0008	a0005c0005 a0007c0007 a0008c0008 a0005c0005 a0007c0007 a0008c0008	a0005c0005t0002 a0007c0007t0003 a0008c0008t0003 a0005c0005t0002 a0007c0007t0003 a0008c0008t0003	a0005c0005t0002g0065 a0007c0007t0003g0094 a0008c0008t0003g0104 others(2): Show a0005c0005t0002g0065 a0007c0007t0003g0094 a0008c0008t0003g0104 a0008c0008t0003g0105 a0008c0008t0003g0106	5	108	0.0463	1	c.282 others(7): Show c.2826-3dupT		LRRC37A2	ENSG00000238083.10	transcript	ENST00000576629.6	protein_coding	4/13				INFO_REALIGN_3_PRIME	chr17	TogoVar
LRRC69_chr8_91097619_91224257	91133094	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00639.hp1 HG00733.hp2 others(8): Show HG00099.hp1 HG00639.hp1 HG00733.hp2 HG01168.hp2 HG01243.hp2 HG01257.hp2 HG01261.hp1 HG02280.hp2 HG03239.hp2 HG03669.hp1 NA18947.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0007 a0001c0001 a0002c0002 a0002c0007	a0001c0001t0001 a0002c0002t0001 a0002c0007t0001 a0001c0001t0001 a0002c0002t0001 a0002c0007t0001	a0001c0001t0001g0308 a0002c0002t0001g0062 a0002c0002t0001g0064 others(8): Show a0001c0001t0001g0308 a0002c0002t0001g0062 a0002c0002t0001g0064 a0002c0002t0001g0086 a0002c0002t0001g0092 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0112 a0002c0002t0001g0134 a0002c0007t0001g0063	11	315	0.0349	1	c.384 others(6): Show c.384-3dupT		LRRC69	ENSG00000214954.9	transcript	ENST00000448384.3	protein_coding	3/7				INFO_REALIGN_3_PRIME	chr8	TogoVar
LRRC71_chr1_156915632_156938094	156930528	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01109.hp2 HG03834.hp2 HG01109.hp2 HG03834.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0038 a0001c0003t0001g0038	2	400	0.0050	0	c.124 others(6): Show c.1241-1G>C		LRRC71	ENSG00000160838.14	transcript	ENST00000337428.8	protein_coding	11/14					chr1	TogoVar
LRRK1_chr15_100914357_101083257	101061162	C C	CACTT CACTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(88): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp1 HG00544.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp2 HG01346.hp2 HG01361.hp1 HG01496.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01943.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02165.hp2 HG02258.hp1 HG02451.hp2 HG02523.hp2 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02897.hp1 HG02976.hp1 HG03017.hp1 HG03098.hp1 HG03098.hp2 HG03139.hp2 HG03209.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03540.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18952.hp1 NA18954.hp1 NA18967.hp1 NA18975.hp2 NA18990.hp1 NA19005.hp2 NA19009.hp1 NA19030.hp2 NA19056.hp2 NA19062.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp1 NA19085.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20752.hp2	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0006 a0008 a0011 a0016 a0020 a0027	a0001c0002 a0001c0004 a0001c0008 others(34): Show a0001c0002 a0001c0004 a0001c0008 a0001c0010 a0001c0013 a0001c0017 a0001c0022 a0001c0023 a0001c0031 a0001c0033 a0001c0035 a0001c0036 a0001c0048 a0001c0055 a0001c0061 a0001c0063 a0001c0065 a0001c0079 a0001c0080 a0001c0081 a0001c0092 a0001c0095 a0001c0100 a0001c0102 a0001c0108 a0001c0110 a0001c0114 a0002c0018 a0004c0039 a0004c0074 a0006c0027 a0006c0111 a0008c0120 a0011c0096 a0016c0053 a0020c0047 a0027c0088	a0001c0002t0001 a0001c0002t0028 a0001c0002t0030 others(78): Show a0001c0002t0001 a0001c0002t0028 a0001c0002t0030 a0001c0002t0033 a0001c0002t0035 a0001c0002t0041 a0001c0002t0042 a0001c0002t0055 a0001c0002t0149 a0001c0002t0154 a0001c0002t0160 a0001c0002t0164 a0001c0002t0166 a0001c0002t0167 a0001c0002t0170 a0001c0002t0171 a0001c0002t0172 a0001c0002t0173 a0001c0002t0174 a0001c0002t0177 a0001c0002t0178 a0001c0002t0183 a0001c0002t0184 a0001c0002t0185 a0001c0002t0223 a0001c0002t0262 a0001c0002t0265 a0001c0004t0001 a0001c0004t0016 a0001c0004t0028 a0001c0004t0029 a0001c0004t0036 a0001c0004t0133 a0001c0004t0165 a0001c0004t0169 a0001c0004t0225 a0001c0004t0238 a0001c0004t0245 a0001c0004t0246 a0001c0008t0052 a0001c0008t0195 a0001c0010t0050 a0001c0010t0201 a0001c0010t0204 a0001c0010t0206 a0001c0010t0208 a0001c0010t0257 a0001c0013t0048 a0001c0017t0163 a0001c0022t0162 a0001c0023t0157 a0001c0031t0248 a0001c0033t0009 a0001c0035t0015 a0001c0036t0040 a0001c0048t0188 a0001c0055t0244 a0001c0061t0015 a0001c0063t0158 a0001c0065t0247 a0001c0079t0203 a0001c0080t0161 a0001c0081t0187 a0001c0092t0001 a0001c0095t0181 a0001c0100t0199 a0001c0102t0159 a0001c0108t0155 a0001c0110t0150 a0001c0114t0216 a0002c0018t0024 a0004c0039t0001 a0004c0039t0029 a0004c0074t0034 a0006c0027t0022 a0006c0111t0130 a0008c0120t0176 a0011c0096t0087 a0016c0053t0009 a0020c0047t0200 a0027c0088t0001	a0001c0002t0001g0199 a0001c0002t0001g0242 a0001c0002t0001g0252 others(88): Show a0001c0002t0001g0199 a0001c0002t0001g0242 a0001c0002t0001g0252 a0001c0002t0001g0312 a0001c0002t0028g0002 a0001c0002t0030g0040 a0001c0002t0030g0272 a0001c0002t0033g0029 a0001c0002t0035g0051 a0001c0002t0041g0197 a0001c0002t0042g0289 a0001c0002t0055g0179 a0001c0002t0149g0205 a0001c0002t0154g0055 a0001c0002t0160g0063 a0001c0002t0164g0216 a0001c0002t0166g0058 a0001c0002t0167g0214 a0001c0002t0170g0046 a0001c0002t0171g0224 a0001c0002t0172g0039 a0001c0002t0173g0233 a0001c0002t0174g0253 a0001c0002t0177g0059 a0001c0002t0178g0248 a0001c0002t0183g0274 a0001c0002t0184g0070 a0001c0002t0185g0174 a0001c0002t0223g0207 a0001c0002t0262g0305 a0001c0002t0265g0307 a0001c0004t0001g0026 a0001c0004t0001g0088 a0001c0004t0001g0156 a0001c0004t0016g0157 a0001c0004t0016g0159 a0001c0004t0028g0028 a0001c0004t0029g0150 a0001c0004t0036g0161 a0001c0004t0133g0008 a0001c0004t0165g0142 a0001c0004t0169g0116 a0001c0004t0225g0130 a0001c0004t0238g0123 a0001c0004t0245g0129 a0001c0004t0246g0137 a0001c0008t0052g0268 a0001c0008t0195g0061 a0001c0010t0050g0079 a0001c0010t0201g0011 a0001c0010t0204g0115 a0001c0010t0206g0012 a0001c0010t0208g0017 a0001c0010t0257g0121 a0001c0013t0048g0007 a0001c0017t0163g0005 a0001c0022t0162g0327 a0001c0023t0157g0271 a0001c0031t0248g0072 a0001c0033t0009g0033 a0001c0033t0009g0034 a0001c0035t0015g0240 a0001c0035t0015g0258 a0001c0036t0040g0211 a0001c0048t0188g0004 a0001c0055t0244g0009 a0001c0061t0015g0153 a0001c0063t0158g0149 a0001c0065t0247g0125 a0001c0079t0203g0082 a0001c0080t0161g0084 a0001c0081t0187g0096 a0001c0092t0001g0045 a0001c0095t0181g0183 a0001c0100t0199g0060 a0001c0102t0159g0247 a0001c0108t0155g0321 a0001c0110t0150g0090 a0001c0114t0216g0318 a0002c0018t0024g0212 a0004c0039t0001g0184 a0004c0039t0029g0071 a0004c0074t0034g0158 a0006c0027t0022g0113 a0006c0027t0022g0114 a0006c0111t0130g0246 a0008c0120t0176g0238 a0011c0096t0087g0193 a0016c0053t0009g0106 a0020c0047t0200g0091 a0027c0088t0001g0277	91	336	0.2708	4	c.468 others(17): Show c.4680-6_4680-3dupTTAC		LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	29/33				INFO_REALIGN_3_PRIME	chr15	TogoVar
LY75_chr2_159798355_159909756	159840956	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18942.hp2 NA18942.hp2	a0044 a0044	a0044c0055 a0044c0055	a0044c0055t0003 a0044c0055t0003	a0044c0055t0003g0274 a0044c0055t0003g0274	1	328	0.0030	0	c.328 others(6): Show c.3281-1G>A		LY75	ENSG00000054219.11	transcript	ENST00000263636.5	protein_coding	24/34					chr2	TogoVar
MACF1_chr1_39199695_39492138	39331172	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02145.hp2 HG02486.hp1 HG02886.hp2 others(3): Show HG02145.hp2 HG02486.hp1 HG02886.hp2 HG03491.hp2 NA19010.hp1 NA20129.hp1	a0002 a0050 a0002 a0050	a0002c0003 a0002c0004 a0002c0025 others(1): Show a0002c0003 a0002c0004 a0002c0025 a0050c0051	a0002c0003t0002 a0002c0004t0001 a0002c0025t0001 others(1): Show a0002c0003t0002 a0002c0004t0001 a0002c0025t0001 a0050c0051t0001	a0002c0003t0002g0246 a0002c0004t0001g0009 a0002c0004t0001g0010 others(3): Show a0002c0003t0002g0246 a0002c0004t0001g0009 a0002c0004t0001g0010 a0002c0004t0001g0011 a0002c0025t0001g0191 a0050c0051t0001g0205	6	59	0.1017	1	c.461 others(7): Show c.4615-3dupT		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	36/100				INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39331172	C C	CTT CTT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00642.hp1 HG02818.hp2 HG02895.hp1 others(4): Show HG00642.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02965.hp2 NA19043.hp1 NA20300.hp1	a0002 a0005 a0002 a0005	a0002c0004 a0005c0008 a0002c0004 a0005c0008	a0002c0004t0001 a0005c0008t0001 a0005c0008t0005 others(1): Show a0002c0004t0001 a0005c0008t0001 a0005c0008t0005 a0005c0008t0007	a0002c0004t0001g0202 a0005c0008t0001g0207 a0005c0008t0001g0210 others(4): Show a0002c0004t0001g0202 a0005c0008t0001g0207 a0005c0008t0001g0210 a0005c0008t0005g0162 a0005c0008t0005g0163 a0005c0008t0005g0164 a0005c0008t0007g0166	7	60	0.1167	2	c.461 others(15): Show c.4615-4_4615-3dupTT		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	36/100				INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGEB3_chrX_30225657_30242495	30232727	TGCGCCAC others(425): Show TGCGCCACTGCACTCCCGCCTGGGTGACAGAGAGAGACTCCATCTCAAAA TAAGTAAATAAATAAATAAATATAAACTTTTTTTTATTTTTTATTTTAAG GCAGGGCTGTGGCTCACGCTTGTAATCCCAACATTTTGGGCGGAGGAAGC CAGCCTCATCGCTTAAGCACAGGAGTTCGCGGACTGGGAGGTGAGCTGCC CCTGTAGTCCCAGCTACCCAGGAGGCTGAGGTGGGAGGATCGCTTAAGCC CTAGGAGTCAAGGCTGCAGTGAGCCAAGGTCACGCCACTGCGCTCCAGCC TGGGCGACAGAGAGAGACACTGTCTCAAATTAGCCGGGCGTGGTGGGGCA CAGGTGTAGTCCCAGCTATTCGGGAGGTGGAGGCAGGAGAATCCCTTGAA CCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATC	C C	splice_acceptor_variant others(5): Show splice_acceptor_variant splice_donor_variant 5_prime_UTR_truncation exon_loss_variant splice_region_variant intron_variant	HIGH	NA18954.hp2 NA19006.hp1 NA19078.hp2 NA18954.hp2 NA19006.hp1 NA19078.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0023 a0003c0003t0004g0023	3	336	0.0089	-432	c.-25 others(17): Show c.-253-100_-163-104del		MAGEB3	ENSG00000198798.6	transcript	ENST00000361644.4	protein_coding	3/5					chrX	TogoVar
MALT1_chr18_58666465_58759477	58696337	A A	AT AT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG01106.hp1 HG01243.hp1 others(46): Show HG00438.hp1 HG01106.hp1 HG01243.hp1 HG01261.hp2 HG01884.hp2 HG01934.hp1 HG01978.hp1 HG02027.hp1 HG02055.hp1 HG02071.hp2 HG02145.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02572.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02976.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03225.hp1 HG03239.hp2 HG03471.hp1 HG03486.hp1 HG03540.hp1 NA18522.hp2 NA18940.hp1 NA18970.hp1 NA18971.hp2 NA18983.hp1 NA18985.hp2 NA19000.hp1 NA19000.hp2 NA19004.hp1 NA19043.hp1 NA19056.hp2 NA19060.hp2 NA19079.hp1 NA19085.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(19): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0023 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0070 a0001c0001t0075 a0001c0001t0076 a0001c0001t0077 a0001c0001t0078	a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0211 others(46): Show a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0211 a0001c0001t0002g0290 a0001c0001t0002g0312 a0001c0001t0002g0315 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0241 a0001c0001t0003g0258 a0001c0001t0005g0173 a0001c0001t0006g0368 a0001c0001t0006g0371 a0001c0001t0007g0104 a0001c0001t0007g0143 a0001c0001t0007g0214 a0001c0001t0007g0230 a0001c0001t0008g0125 a0001c0001t0008g0129 a0001c0001t0008g0137 a0001c0001t0008g0138 a0001c0001t0008g0140 a0001c0001t0009g0112 a0001c0001t0010g0149 a0001c0001t0011g0223 a0001c0001t0012g0062 a0001c0001t0012g0069 a0001c0001t0012g0070 a0001c0001t0012g0071 a0001c0001t0012g0072 a0001c0001t0012g0074 a0001c0001t0013g0269 a0001c0001t0018g0064 a0001c0001t0018g0065 a0001c0001t0018g0066 a0001c0001t0018g0067 a0001c0001t0023g0146 a0001c0001t0027g0345 a0001c0001t0027g0346 a0001c0001t0027g0347 a0001c0001t0028g0372 a0001c0001t0032g0313 a0001c0001t0070g0130 a0001c0001t0075g0061 a0001c0001t0076g0063 a0001c0001t0077g0348 a0001c0001t0078g0075	49	335	0.1463	1	c.377 others(6): Show c.377-3dupT		MALT1	ENSG00000172175.16	transcript	ENST00000649217.2	protein_coding	2/16				INFO_REALIGN_3_PRIME	chr18	TogoVar
MALT1_chr18_58666465_58759477	58696337	A A	ATT ATT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01891.hp1 HG02055.hp2 HG02486.hp2 others(3): Show HG01891.hp1 HG02055.hp2 HG02486.hp2 HG02976.hp2 HG03471.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0012 a0001c0001t0034 others(3): Show a0001c0001t0003 a0001c0001t0012 a0001c0001t0034 a0001c0001t0051 a0001c0001t0063 a0001c0001t0067	a0001c0001t0003g0236 a0001c0001t0012g0068 a0001c0001t0034g0119 others(3): Show a0001c0001t0003g0236 a0001c0001t0012g0068 a0001c0001t0034g0119 a0001c0001t0051g0228 a0001c0001t0063g0229 a0001c0001t0067g0165	6	292	0.0205	2	c.377 others(13): Show c.377-4_377-3dupTT		MALT1	ENSG00000172175.16	transcript	ENST00000649217.2	protein_coding	2/16				INFO_REALIGN_3_PRIME	chr18	TogoVar
MAP3K19_chr2_134959491_135052447	135000016	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01261.hp1 HG01261.hp1	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0001 a0010c0015t0001	a0010c0015t0001g0103 a0010c0015t0001g0103	1	332	0.0030	0	c.236 others(5): Show c.236-1G>A		MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	6/12					chr2	TogoVar
MAPKAPK3_chr3_50612151_50654291	50642241	CTGTTTCT others(29): Show CTGTTTCTGCAGAAGCTGCAGAGATAATGCGGGATAT	C C	splice_acceptor_variant others(3): Show splice_acceptor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	HG01081.hp2 HG01081.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0081 a0003c0003t0001g0081	1	324	0.0031	-36	c.425 others(45): Show c.425-9_451delTTTCTGCAGAAGCTGCAGAGATAATGCGGGATATTG	p.Glu others(13): Show p.Glu142_Ile150del	MAPKAPK3	ENSG00000114738.11	transcript	ENST00000621469.5	protein_coding	5/11		425/1149	142/382	INFO_REALIGN_3_PRIME	chr3	TogoVar
METTL17_chr14_20984980_21002035	20996707	GGCAGGTA others(69): Show GGCAGGTATGGGGGGTGTGACCAAAATCAGTGGGATGTGGCAGGAAGCTG CAGCCCACGCCAGCATCTGTTTCCACA	G G	splice_acceptor_variant others(4): Show splice_acceptor_variant splice_donor_variant disruptive_inframe_deletion splice_region_variant intron_variant	HIGH	NA18957.hp2 NA18957.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0105 a0005c0007t0001g0105	1	476	0.0021	-76	c.126 others(87): Show c.1263_1266-1delCAGGTATGGGGGGTGTGACCAAAATCAGTGGGAT GTGGCAGGAAGCTGCAGCCCACGCCAGCATCTGTTTCCACAG	p.Arg others(6): Show p.Arg422del	METTL17	ENSG00000165792.18	transcript	ENST00000339374.11	protein_coding	13/14	1286/1539	1263/1371	421/456	INFO_REALIGN_3_PRIME	chr14	TogoVar
METTL21A_chr2_207607739_207630394	207621541	GGGGGCAG others(1215): Show GGGGGCAGAGCAATCTCCCATGGGAAGTATAAATAACAGAGTGTGTGTGT GTGTGAGAGAGAGAGACAGAAATTAGAGAGAGAGAAATTAGCCCGTTAGC CTCACTGGAGTTAAGAACCCCAGCAGTTGGCCCACAACTCATAAGTATAA GCAAAAGATAATAACCCAGTAAGGGGAAAACCCACGAAGGGTTTTGCGCT AAGAAAACAGCAAATGCACCTCTCAATGAGTTCTGCTCACTAAGGAGTCA ATGCATGACACTCACCCAGCAGGGCAGCCACTATGCCCACCAGCCCCGTG CCAGCACCCAGCTCCACGGCAGAGCGGCCCCTGAGCTCCACAGCTCCCAT CTCCAGGTATGTGGAAAGAACGATGGCCTGAATGAAAACACAGTGTGATG ACGATTAAGGTCAACATGTGCTTGAGTAGCTGCAGGGTTTCAGGTCAGCT ACACCCACCCCTCTCCCACTTCGAGGTTCAATTCCCAGCTTAACAACACA CACAGGAACTTAGCTGGTGCAGCAAGGTAACCTCCCCCTTAGAGCAAGCA CAGGGTCCCACAGCAGTGCCCAGAGATGATGCCCACACTAAATGGGGTCC TGCTGGATCTGGAAAGCTTAATTTTTTTTTTTTTTTTTTTTTGAGATGGA GTCTCAGTCCATCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGC TCACTGCAACCTCCACCTCCCAAGCTCAAGCGATTCTCCCACCTCAGCAC CCCCAGTAACTGGGACACAGGCGTGCACCACCACACCCAGCTAATTTTTG TAGTTTTTTTGGTAGAGATGGGGTTTTGCCATGTTGGCCAAGCTGGTCTT GAACTCCTGAGCTCCTGCGTCAGCTTCCCAAAGTGCTAGGATTATAGGCG TGAGCTATCACACCCAGCCTGGAAAGCTTAACTTTTTACTGTGTCACAGC ACTTTTATGCTTGAAGTTTACACAACTATTCTGCAAGAACTGACATGAAC AATTTCTATGATTTTGTTTAAGGGAATGCCCAGTTCCTAAACCAAACTCA GGTCAGCAAAGCCACAACTTCACCCATAGGGAAAAAGCAACACATTGCCC AAGGGTCTCTGAACTGCGTCACTGATGGTCATCGCCCCACAGGGGCCCTC ACCATACGTTTTGGGCATCAGAAGGTAAGTTTTGGCCAAAGTTTTGGATA CTTGATGTGTGGTTTCAACATTT	G G	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18961.hp2 NA18961.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0094 a0005c0007t0001g0094	1	384	0.0026	-1222	c.148 others(15): Show c.148-846_259+264del		METTL21A	ENSG00000144401.14	transcript	ENST00000411432.6	protein_coding	3/4					chr2	TogoVar
METTL27_chr7_73829590_73847516	73840121	CTG CTG	C C	splice_acceptor_variant others(2): Show splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG01109.hp1 HG02109.hp1 HG02273.hp2 others(4): Show HG01109.hp1 HG02109.hp1 HG02273.hp2 HG02683.hp2 HG02976.hp1 HG04115.hp1 NA19009.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0010 a0002c0002t0001g0112 a0002c0002t0001g0137 a0002c0002t0001g0010 a0002c0002t0001g0112 a0002c0002t0001g0137	7	370	0.0189	-2	c.389 others(13): Show c.389-3_389-2delCA		METTL27	ENSG00000165171.11	transcript	ENST00000297873.9	protein_coding	4/5					chr7	TogoVar
METTL9_chr16_21594577_21662471	21612623	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00544.hp1 HG00609.hp2 HG00738.hp1 others(32): Show HG00544.hp1 HG00609.hp2 HG00738.hp1 HG01081.hp2 HG02015.hp2 HG02040.hp2 HG02071.hp1 HG02083.hp2 HG02132.hp2 HG02280.hp1 HG02647.hp2 HG02723.hp1 HG02922.hp1 HG03453.hp2 HG03831.hp2 HG04184.hp1 NA18522.hp2 NA18747.hp1 NA18941.hp2 NA18951.hp2 NA18964.hp2 NA18971.hp2 NA18973.hp1 NA18975.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18991.hp1 NA18991.hp2 NA18993.hp1 NA18994.hp1 NA19054.hp1 NA19064.hp2 NA19077.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 a0001c0001 a0001c0002 a0001c0004	a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0002t0002 a0001c0004t0001	a0001c0001t0001g0077 a0001c0001t0001g0126 a0001c0001t0001g0139 others(25): Show a0001c0001t0001g0077 a0001c0001t0001g0126 a0001c0001t0001g0139 a0001c0001t0001g0204 a0001c0001t0001g0212 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0231 a0001c0001t0001g0313 a0001c0001t0001g0318 a0001c0001t0007g0220 a0001c0002t0002g0001 a0001c0002t0002g0003 a0001c0002t0002g0018 a0001c0002t0002g0019 a0001c0002t0002g0020 a0001c0002t0002g0022 a0001c0002t0002g0023 a0001c0002t0002g0024 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0028 a0001c0002t0002g0029 a0001c0004t0001g0168 a0001c0004t0001g0169	35	354	0.0989	1	c.166 others(6): Show c.166-3dupT		METTL9	ENSG00000197006.15	transcript	ENST00000358154.8	protein_coding	1/4				INFO_REALIGN_3_PRIME	chr16	TogoVar
MIB1_chr18_21735792_21875953	21791373	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0044 a0001c0001t0024g0044	1	306	0.0033	0	c.909 others(5): Show c.909-1G>C		MIB1	ENSG00000101752.13	transcript	ENST00000261537.7	protein_coding	6/20					chr18	TogoVar
MKI67_chr10_128091659_128131423	128116008	C C	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA19091.hp1 NA19091.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0005 a0007c0007t0005	a0007c0007t0005g0113 a0007c0007t0005g0113	1	406	0.0025	0	c.401 others(5): Show c.401-1G>A		MKI67	ENSG00000148773.14	transcript	ENST00000368654.8	protein_coding	6/14					chr10	TogoVar
MLH3_chr14_75008775_75056467	75017201	T T	TCTATGGG others(30): Show TCTATGGGAAGAAAGAATAACTTCAATTAGCAATATGA	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA20300.hp1 NA20300.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0047 a0006c0006t0001g0047	1	260	0.0038	37	c.424 others(51): Show c.4243-37_4243-1dupTCATATTGCTAATTGAAGTTATTCTTTCTTC CCATAG		MLH3	ENSG00000119684.16	transcript	ENST00000355774.7	protein_coding	12/12					chr14	TogoVar
MMP10_chr11_102765502_102785628	102778751	T T	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0068	1	454	0.0022	0	c.497 others(5): Show c.497-2A>G		MMP10	ENSG00000166670.10	transcript	ENST00000279441.9	protein_coding	3/9					chr11	TogoVar
MMP20_chr11_102571832_102630332	102578264	ATCCGGAG others(1162): Show ATCCGGAGTAGCTGGGACTACAGGTGTGTGCCATCATTCTCAGCTAACTT TTTTGTAGAGACAGAGTTTTGCCATATTGCCCAAGCTGGTATTGAATTCC TGGGCTGAAGTGATCCTACCACCTCATCCTCCCAAAGTGCTGGAATTACA GGTGTGTGTCACTGTGCCCAACCAAGACTATGTGTATTTTAAAGATAGAA AAGGTAATCTTGACCCCGGTAGACTTTATGATCTAGCTGACTAATCGATT GAAGCTATACTTTAAAAACTTTCCATTAGGTGGCCAACATGGTGAAACTC CATCTCCACTAAAAATACAAACATTAGCTGGGCCTGGTGGCCAGCGCCTG TAGTCCCAGCTACTTGGGAGGCTGAGGTAGGAGAATCGCTCGAATCTGGG AGGCAGAAGTTGCAGTGAGCAGAGATCGCGCCACTGCAGTCCAGCCTGGC CACAGAGCGAGACTCCGTCTCAAAAAAAACAAAAAACAAAAAACAAAAAA CAAAAACAAAAAACAAAACACACACACACAAAAACAAAAACAAACAAACA AACAAACAAAAACTTTCCATTAGGAAAGAGAGAACTAAAATACCAGAACT TTTACAGTTACTCTTTCTAGTGGACAATCTGTTTAGATAAACTTATGAAA GGACCTAAGACCAAATATAAAAACCAAGGACTCCCACTTGGAAATCCACT TTCTGTTGTGTTAAAGCAAAGCCAAGATTTCTTATGATAGTTTTCATGAA GAAAGTTTTCAGTGGAAACACTTACCATTTAATTCTACAGCAGCATCGAT TTGGCCATTTACTCCTGAAAATTCTTCTTCAGTATTCTTTGGATAGTCTT TTTCCATTTTCCTTTTCCTTTCGTCGTAGCTAGAAAAAGTATTATTTCAT AAATAATATTACTAAGAGGTTTTTACTGGTTGTAGATGACACTATACTGG TCAGGCATATGGACACATAACTTATTTAGGTGTTCCTCTCTCTCTCTGTT TCACATACACATACACATGCATTTATGTTGTTATTTATTTTTTCTTTGTT GTGTTTTTGTTTTTTTTTTGAGATGGGGTCTCACTGTTGCCCAGGCTGAA GTGTAGTGGTGCCATCATGGCTCACCACTGCCTTGACCTTCCAGGCTCAA GCGATCCTCCTGTCTCAGCC	A A	exon_loss_variant others(4): Show exon_loss_variant splice_acceptor_variant splice_donor_variant splice_region_variant intron_variant	HIGH	NA18969.hp1 NA18969.hp1	a0014 a0014	a0014c0015 a0014c0015	a0014c0015t0001 a0014c0015t0001	a0014c0015t0001g0190 a0014c0015t0001g0190	1	444	0.0023	-1169	c.124 others(17): Show c.1248-291_1351+774del		MMP20	ENSG00000137674.4	transcript	ENST00000260228.3	protein_coding	9/10					chr11	TogoVar
MON2_chr12_62461826_62605476	62578430	G G	GT GT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00099.hp1 HG00140.hp2 HG00280.hp2 others(145): Show HG00099.hp1 HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00423.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00642.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01081.hp2 HG01099.hp1 HG01106.hp2 HG01168.hp1 HG01257.hp1 HG01261.hp2 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01975.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02109.hp2 HG02135.hp1 HG02145.hp1 HG02257.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18943.hp1 NA18946.hp1 NA18949.hp2 NA18951.hp2 NA18954.hp2 NA18955.hp1 NA18956.hp2 NA18957.hp2 NA18963.hp1 NA18966.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18972.hp2 NA18973.hp2 NA18977.hp1 NA18983.hp1 NA18990.hp2 NA18998.hp2 NA19001.hp1 NA19003.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19075.hp2 NA19080.hp1 NA19082.hp1 NA19083.hp2 NA19085.hp2 NA19086.hp2 NA19088.hp2 NA19090.hp2 NA20129.hp1 NA20905.hp1	a0001 a0002 a0007 others(3): Show a0001 a0002 a0007 a0009 a0011 a0012	a0001c0002 a0001c0006 a0001c0009 others(7): Show a0001c0002 a0001c0006 a0001c0009 a0001c0016 a0002c0001 a0002c0015 a0007c0014 a0009c0013 a0011c0021 a0012c0012	a0001c0002t0031 a0001c0006t0003 a0001c0006t0007 others(20): Show a0001c0002t0031 a0001c0006t0003 a0001c0006t0007 a0001c0006t0033 a0001c0006t0034 a0001c0006t0042 a0001c0009t0019 a0001c0016t0032 a0002c0001t0001 a0002c0001t0006 a0002c0001t0009 a0002c0001t0012 a0002c0001t0018 a0002c0001t0025 a0002c0001t0027 a0002c0001t0028 a0002c0001t0029 a0002c0001t0030 a0002c0015t0024 a0007c0014t0009 a0009c0013t0006 a0011c0021t0001 a0012c0012t0001	a0001c0002t0031g0136 a0001c0006t0003g0005 a0001c0006t0003g0006 others(143): Show a0001c0002t0031g0136 a0001c0006t0003g0005 a0001c0006t0003g0006 a0001c0006t0003g0007 a0001c0006t0003g0008 a0001c0006t0003g0102 a0001c0006t0003g0103 a0001c0006t0003g0104 a0001c0006t0003g0105 a0001c0006t0003g0106 a0001c0006t0007g0009 a0001c0006t0007g0010 a0001c0006t0007g0011 a0001c0006t0007g0012 a0001c0006t0007g0013 a0001c0006t0007g0014 a0001c0006t0007g0015 a0001c0006t0007g0016 a0001c0006t0007g0017 a0001c0006t0007g0018 a0001c0006t0007g0019 a0001c0006t0007g0021 a0001c0006t0033g0022 a0001c0006t0034g0020 a0001c0006t0042g0004 a0001c0009t0019g0107 a0001c0009t0019g0108 a0001c0016t0032g0252 a0002c0001t0001g0002 a0002c0001t0001g0003 a0002c0001t0001g0111 a0002c0001t0001g0137 a0002c0001t0001g0138 a0002c0001t0001g0139 a0002c0001t0001g0142 a0002c0001t0001g0143 a0002c0001t0001g0144 a0002c0001t0001g0146 a0002c0001t0001g0147 a0002c0001t0001g0148 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0152 a0002c0001t0001g0153 a0002c0001t0001g0155 a0002c0001t0001g0156 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0160 a0002c0001t0001g0161 a0002c0001t0001g0162 a0002c0001t0001g0163 a0002c0001t0001g0164 a0002c0001t0001g0166 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0170 a0002c0001t0001g0171 a0002c0001t0001g0172 a0002c0001t0001g0173 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0176 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0180 a0002c0001t0001g0181 a0002c0001t0001g0182 a0002c0001t0001g0183 a0002c0001t0001g0185 a0002c0001t0001g0205 a0002c0001t0001g0206 a0002c0001t0001g0207 a0002c0001t0001g0208 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0212 a0002c0001t0001g0213 a0002c0001t0001g0214 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0217 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0221 a0002c0001t0001g0223 a0002c0001t0001g0224 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0227 a0002c0001t0001g0229 a0002c0001t0001g0230 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0238 a0002c0001t0001g0239 a0002c0001t0001g0240 a0002c0001t0001g0241 a0002c0001t0001g0242 a0002c0001t0001g0243 a0002c0001t0001g0244 a0002c0001t0001g0245 a0002c0001t0001g0246 a0002c0001t0001g0248 a0002c0001t0001g0249 a0002c0001t0001g0253 a0002c0001t0006g0145 a0002c0001t0006g0186 a0002c0001t0006g0188 a0002c0001t0006g0190 a0002c0001t0006g0191 a0002c0001t0006g0192 a0002c0001t0006g0193 a0002c0001t0006g0194 a0002c0001t0006g0198 a0002c0001t0006g0200 a0002c0001t0006g0201 a0002c0001t0006g0202 a0002c0001t0006g0203 a0002c0001t0006g0204 a0002c0001t0006g0222 a0002c0001t0006g0231 a0002c0001t0006g0232 a0002c0001t0006g0233 a0002c0001t0006g0234 a0002c0001t0006g0250 a0002c0001t0009g0195 a0002c0001t0009g0196 a0002c0001t0009g0197 a0002c0001t0009g0228 a0002c0001t0012g0141 a0002c0001t0012g0220 a0002c0001t0012g0251 a0002c0001t0018g0177 a0002c0001t0018g0247 a0002c0001t0025g0189 a0002c0001t0027g0165 a0002c0001t0028g0184 a0002c0001t0029g0151 a0002c0001t0030g0140 a0002c0015t0024g0187 a0007c0014t0009g0237 a0009c0013t0006g0199 a0011c0021t0001g0337 a0012c0012t0001g0154	148	365	0.4055	1	c.451 others(7): Show c.4515-3dupT		MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	30/34				INFO_REALIGN_3_PRIME	chr12	TogoVar
MROH2A_chr2_233773330_233838418	233779344	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG03516.hp1 HG03516.hp1	a0010 a0010	a0010c0022 a0010c0022	a0010c0022t0001 a0010c0022t0001	a0010c0022t0001g0293 a0010c0022t0001g0293	1	376	0.0027	0	c.-14 others(5): Show c.-14-1G>C		MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	1/41					chr2	TogoVar
MROH2A_chr2_233773330_233838418	233828629	G G	C C	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG00438.hp1 HG00597.hp2 HG00673.hp1 others(15): Show HG00438.hp1 HG00597.hp2 HG00673.hp1 HG02129.hp2 HG02132.hp1 HG02523.hp1 NA18942.hp1 NA18949.hp2 NA18952.hp2 NA18957.hp2 NA18964.hp2 NA18974.hp2 NA18983.hp1 NA19012.hp1 NA19064.hp1 NA19075.hp2 NA19086.hp2 NA19240.hp2	a0009 a0018 a0040 others(5): Show a0009 a0018 a0040 a0043 a0107 a0108 a0122 a0124	a0009c0005 a0009c0122 a0018c0072 others(7): Show a0009c0005 a0009c0122 a0018c0072 a0018c0075 a0040c0099 a0043c0048 a0107c0110 a0108c0111 a0122c0113 a0124c0167	a0009c0005t0001 a0009c0122t0001 a0018c0072t0001 others(7): Show a0009c0005t0001 a0009c0122t0001 a0018c0072t0001 a0018c0075t0001 a0040c0099t0001 a0043c0048t0001 a0107c0110t0001 a0108c0111t0001 a0122c0113t0001 a0124c0167t0001	a0009c0005t0001g0151 a0009c0005t0001g0191 a0009c0005t0001g0209 others(15): Show a0009c0005t0001g0151 a0009c0005t0001g0191 a0009c0005t0001g0209 a0009c0005t0001g0222 a0009c0005t0001g0228 a0009c0005t0001g0232 a0009c0005t0001g0319 a0009c0005t0001g0349 a0009c0122t0001g0244 a0018c0072t0001g0046 a0018c0075t0001g0149 a0040c0099t0001g0336 a0043c0048t0001g0052 a0043c0048t0001g0079 a0107c0110t0001g0150 a0108c0111t0001g0287 a0122c0113t0001g0278 a0124c0167t0001g0177	18	376	0.0479	0	c.411 others(6): Show c.4114-1G>C		MROH2A	ENSG00000185038.15	transcript	ENST00000389758.4	protein_coding	35/41					chr2	TogoVar
MROH6_chr8_143561192_143577772	143567889	C C	G G	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	NA18982.hp1 NA18982.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0159 a0002c0002t0004g0159	1	436	0.0023	0	c.176 others(6): Show c.1765-1G>C		MROH6	ENSG00000204839.9	transcript	ENST00000398882.8	protein_coding	11/13					chr8	TogoVar
MRPL42_chr12_93462514_93521214	93479377	C C	CT CT	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG02257.hp1 HG02572.hp1 HG02630.hp2 others(4): Show HG02257.hp1 HG02572.hp1 HG02630.hp2 HG02717.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0135 a0001c0001t0136 others(2): Show a0001c0001t0022 a0001c0001t0135 a0001c0001t0136 a0001c0001t0137 a0001c0001t0138	a0001c0001t0022g0026 a0001c0001t0022g0163 a0001c0001t0022g0165 others(4): Show a0001c0001t0022g0026 a0001c0001t0022g0163 a0001c0001t0022g0165 a0001c0001t0135g0164 a0001c0001t0136g0026 a0001c0001t0137g0277 a0001c0001t0138g0162	7	385	0.0182	1	c.135 others(6): Show c.135-3dupT		MRPL42	ENSG00000198015.14	transcript	ENST00000549982.6	protein_coding	3/5				INFO_REALIGN_3_PRIME	chr12	TogoVar
MS4A12_chr11_60487778_60512430	60503700	G G	T T	splice_acceptor_variant others(1): Show splice_acceptor_variant intron_variant	HIGH	HG01261.hp2 NA18522.hp1 NA20129.hp2 HG01261.hp2 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051 a0001c0003t0001g0049 a0001c0003t0001g0050 a0001c0003t0001g0051	3	430	0.0070	0	c.472 others(5): Show c.472-1G>T		MS4A12	ENSG00000071203.9	transcript	ENST00000016913.8	protein_coding	4/6					chr11	TogoVar

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