Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
LMAN2_chr5_177326567_177356668	177326891	GAAAGAAA others(44): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAAG AA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 HG02647.hp2 HG03516.hp1 others(1): Show HG02615.hp1 HG02647.hp2 HG03516.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0002g0007 a0001c0001t0002g0220 a0001c0001t0002g0227	4	372	0.0108	-51	c.51 others(62): Show c.5144_*5194delTTCTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTT	LMAN2	ENSG00000169223.16	transcript	ENST00000303127.12	protein_coding		4675		chr5	TogoVar
LMBRD1_chr6_69669010_69802010	69743639	CAAATTCA others(44): Show CAAATTCAAAGCAGGTTCTTAAATTACTTTACCATCAGGATTTTATAATC TA	C C	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	346	0.0029	-51	c.474 others(68): Show c.474-1813_474-1763delTAGATTATAAAATCCTGATGGTAAAGTA ATTTAAGAACCTGCTTTGAATTT	LMBRD1	ENSG00000168216.13	transcript	ENST00000649934.3	protein_coding	5/15			chr6	TogoVar
LMLN_chr3_197955217_198048720	197977397	CATCAAAC others(44): Show CATCAAACAATCTGGAAGTACACACATGTTAAACCTGGATACATAAAAAA TT	C C	intron_variant intron_variant	MODIFIER	NA18964.hp2 NA18964.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0041 a0001c0005t0041	a0001c0005t0041g0144 a0001c0005t0041g0144	1	256	0.0039	-51	c.525 others(66): Show c.525+708_525+758delTGTTAAACCTGGATACATAAAAAATTATCA AACAATCTGGAAGTACACACA	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198003614	ATAGTAAG others(44): Show ATAGTAAGTTTGACATTATCTATATATCATCTATACAGATACATATCATA CG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00738.hp2 HG01346.hp1 others(17): Show HG00140.hp1 HG00738.hp2 HG01346.hp1 HG01884.hp1 HG02109.hp2 HG02258.hp2 HG02630.hp2 HG02698.hp2 HG02717.hp2 HG02965.hp1 HG03041.hp1 HG03130.hp1 HG03195.hp1 HG03453.hp1 HG03491.hp1 HG03492.hp1 HG06807.hp2 NA18906.hp1 NA18964.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0008 a0001c0001t0012 a0001c0001t0021 others(6): Show a0001c0001t0008 a0001c0001t0012 a0001c0001t0021 a0001c0001t0043 a0001c0001t0049 a0001c0001t0050 a0002c0002t0002 a0002c0002t0032 a0002c0002t0033	a0001c0001t0008g0085 a0001c0001t0008g0086 a0001c0001t0008g0087 others(17): Show a0001c0001t0008g0085 a0001c0001t0008g0086 a0001c0001t0008g0087 a0001c0001t0008g0088 a0001c0001t0008g0089 a0001c0001t0008g0090 a0001c0001t0008g0092 a0001c0001t0012g0005 a0001c0001t0012g0093 a0001c0001t0012g0094 a0001c0001t0012g0098 a0001c0001t0012g0099 a0001c0001t0021g0096 a0001c0001t0021g0097 a0001c0001t0043g0095 a0001c0001t0049g0091 a0001c0001t0050g0006 a0002c0002t0002g0021 a0002c0002t0032g0102 a0002c0002t0033g0101	20	205	0.0976	-51	c.131 others(68): Show c.1319+505_1319+555delTATCTATATATCATCTATACAGATACAT ATCATACGTAGTAAGTTTGACAT	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198037965	GCTTGCAT others(44): Show GCTTGCATCCTCACAGTCCGTCTGCCTATTGTCGTTATTGCTGGTCCTGT CC	G G	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0134 a0001c0001t0023g0134	1	256	0.0039	-51	c.195 others(68): Show c.1955-596_1955-546delATCCTCACAGTCCGTCTGCCTATTGTCG TTATTGCTGGTCCTGTCCCTTGC	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMLN_chr3_197955217_198048720	198038013	GTCCCTTG others(44): Show GTCCCTTGCCTCCTCACAGTCTGTCTGCCTGTTGTCGTTATTGATGCTCC TC	G G	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG01261.hp1 HG04228.hp1 HG01123.hp1 HG01261.hp1 HG04228.hp1	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0002c0002 a0003c0003	a0002c0002t0002 a0003c0003t0025 a0003c0003t0026 a0002c0002t0002 a0003c0003t0025 a0003c0003t0026	a0002c0002t0002g0064 a0003c0003t0025g0082 a0003c0003t0026g0081 a0002c0002t0002g0064 a0003c0003t0025g0082 a0003c0003t0026g0081	3	256	0.0117	-51	c.195 others(68): Show c.1955-533_1955-483delTGTCTGCCTGTTGTCGTTATTGATGCTC CTCTCCCTTGCCTCCTCACAGTC	LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
LMTK2_chr7_98101862_98214638	98140145	TTCTTTTC others(44): Show TTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTCTTTTCTTTCTTCTTTCTG TC	T T	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0277 a0001c0001t0010g0277	1	323	0.0031	-51	c.232 others(68): Show c.232-1250_232-1200delCTTTTCTTTTCTTTTCTTTTCTTTTCTT TCTTTTCTTTCTTCTTTCTGTCT	LMTK2	ENSG00000164715.6	transcript	ENST00000297293.6	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr7	TogoVar
LOC122513141_chr9_137212494_137224361	137217032	TTCCTCTA others(44): Show TTCCTCTAGCTCCTCCCGGTGCCCTGGGTGCTGGGTGCTGGATGGATGGG CG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp1 HG01169.hp2 HG01361.hp2 others(15): Show HG01167.hp1 HG01169.hp2 HG01361.hp2 HG01928.hp1 HG02004.hp2 HG02148.hp1 HG02148.hp2 HG02300.hp2 HG04199.hp1 NA18946.hp2 NA18964.hp2 NA18969.hp1 NA18972.hp2 NA18973.hp1 NA18977.hp1 NA19004.hp1 NA19077.hp2 NA19085.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0000 a0001c0004t0001g0000	18	387	0.0465	-51	c.-96 others(60): Show c.-964_-914delTCCTCTAGCTCCTCCCGGTGCCCTGGGTGCTGGGTG CTGGATGGATGGGCG	LOC122513141	ENSG00000284976.2	transcript	ENST00000645271.2	protein_coding		461		chr9	TogoVar
LOC122513141_chr9_137212494_137224361	137217077	ATGGGCGT others(44): Show ATGGGCGTCCTCTAGCTCCTCCCGGTGCCCTGGGTGCTGGGTGCTGGATG GG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01884.hp1 others(11): Show HG01070.hp2 HG01071.hp1 HG01884.hp1 HG02293.hp1 HG02572.hp1 HG02647.hp1 HG02922.hp2 HG02965.hp2 HG03130.hp1 HG03130.hp2 HG03490.hp2 HG03492.hp2 NA18906.hp2 NA18942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0008 a0001c0002t0004 a0001c0002t0008	a0001c0002t0004g0000 a0001c0002t0008g0000 a0001c0002t0004g0000 a0001c0002t0008g0000	14	388	0.0361	-51	c.-91 others(60): Show c.-919_-869delTGGGCGTCCTCTAGCTCCTCCCGGTGCCCTGGGTGC TGGGTGCTGGATGGG	LOC122513141	ENSG00000284976.2	transcript	ENST00000645271.2	protein_coding		416		chr9	TogoVar
LOC128462377_chr16_89312046_89423292	89328539	TGGGTGAA others(44): Show TGGGTGAATCTGCAGAGGCCCCTGCTGAGTGAGTGGACACACCCAGGCGT AC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03453.hp2 NA20129.hp2 HG03041.hp1 HG03453.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022	3	364	0.0082	-51	c.10- others(68): Show c.10-11515_10-11465delGTACGCCTGGGTGTGTCCACTCACTCAG CAGGGGCCTCTGCAGATTCACCC	LOC128462377	ENSG00000288715.2	transcript	ENST00000711617.1	protein_coding	1/1			chr16	TogoVar
LPP_chr3_188149157_188895671	188784694	TATATATA others(44): Show TATATATATATTCCATCATATATATATATTTCCATCATATATATATTCCA TC	T T	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0052 a0002c0003t0052	a0002c0003t0052g0010 a0002c0003t0052g0010	1	74	0.0135	-51	c.141 others(72): Show c.1410+24442_1410+24492delTCCATCATATATATATTCCATCAT ATATATATTCCATCATATATATATATT	LPP	ENSG00000145012.15	transcript	ENST00000617246.5	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197857137	CATCAGTT others(44): Show CATCAGTTTACACTGACATTGTCTTCGGGCTACCTCTCAAGCTCCTGTTA AT	C C	intron_variant intron_variant	MODIFIER	NA19057.hp1 NA19057.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0085 a0001c0002t0001g0085	1	290	0.0034	-51	c.164 others(70): Show c.1645-1663_1645-1613delTCTCAAGCTCCTGTTAATATCAGTTT ACACTGACATTGTCTTCGGGCTACC	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197857171	TCTCAAGC others(44): Show TCTCAAGCTCCTGTTAATATCAGTTTACACTGACATTGTCTTCGGGCTAC CC	T T	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01884.hp1 HG02055.hp1 others(8): Show HG01361.hp2 HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02451.hp2 HG02622.hp2 HG02818.hp1 HG02818.hp2 HG03130.hp2 NA18906.hp1 NA19030.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0005 a0003c0010 a0001c0001 a0001c0005 a0003c0010	a0001c0001t0011 a0001c0001t0021 a0001c0001t0027 others(3): Show a0001c0001t0011 a0001c0001t0021 a0001c0001t0027 a0001c0001t0057 a0001c0005t0035 a0003c0010t0060	a0001c0001t0011g0069 a0001c0001t0011g0071 a0001c0001t0011g0074 others(8): Show a0001c0001t0011g0069 a0001c0001t0011g0071 a0001c0001t0011g0074 a0001c0001t0011g0077 a0001c0001t0011g0134 a0001c0001t0021g0010 a0001c0001t0021g0082 a0001c0001t0027g0117 a0001c0001t0057g0083 a0001c0005t0035g0039 a0003c0010t0060g0007	11	290	0.0379	-51	c.164 others(70): Show c.1645-1655_1645-1605delTCCTGTTAATATCAGTTTACACTGAC ATTGTCTTCGGGCTACCCCTCAAGC	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRCH3_chr3_197786254_197893436	197857179	TCCTGTTA others(44): Show TCCTGTTAATATCAGTTTACACTGACATTGTCTTCGGGCTACCCCTCAAG CC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01071.hp1 HG01891.hp1 others(12): Show HG01069.hp1 HG01071.hp1 HG01891.hp1 HG02257.hp2 HG02280.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02922.hp2 HG02976.hp1 HG03225.hp1 HG03579.hp1 NA18963.hp1 NA19084.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0001c0005 a0004c0009 others(1): Show a0001c0001 a0001c0005 a0004c0009 a0007c0016	a0001c0001t0008 a0001c0001t0023 a0001c0001t0064 others(7): Show a0001c0001t0008 a0001c0001t0023 a0001c0001t0064 a0001c0001t0065 a0001c0001t0066 a0001c0001t0067 a0001c0005t0008 a0004c0009t0063 a0004c0009t0068 a0007c0016t0008	a0001c0001t0008g0072 a0001c0001t0008g0076 a0001c0001t0008g0084 others(11): Show a0001c0001t0008g0072 a0001c0001t0008g0076 a0001c0001t0008g0084 a0001c0001t0008g0273 a0001c0001t0023g0016 a0001c0001t0023g0058 a0001c0001t0064g0164 a0001c0001t0065g0127 a0001c0001t0066g0148 a0001c0001t0067g0196 a0001c0005t0008g0001 a0004c0009t0063g0112 a0004c0009t0068g0163 a0007c0016t0008g0042	15	290	0.0517	-51	c.164 others(70): Show c.1645-1638_1645-1588delTACACTGACATTGTCTTCGGGCTACC CCTCAAGCCCCTGTTAATATCAGTT	LRCH3	ENSG00000186001.14	transcript	ENST00000425562.7	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRIG1_chr3_66373797_66506022	66383666	TTCTTGAC others(44): Show TTCTTGACCAAGCCCACATCCATCCTGTCCAATTCTTAAAATGTTCTGTA GC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01099.hp1 HG01123.hp1 others(20): Show HG00280.hp1 HG01099.hp1 HG01123.hp1 HG01243.hp2 HG01358.hp1 HG01981.hp2 HG02027.hp2 HG02258.hp1 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02698.hp2 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG04115.hp1 NA18522.hp1 NA18974.hp2 NA19240.hp1	a0003 a0005 a0010 others(4): Show a0003 a0005 a0010 a0014 a0026 a0027 a0029	a0003c0012 a0005c0004 a0010c0011 others(4): Show a0003c0012 a0005c0004 a0010c0011 a0014c0020 a0026c0032 a0027c0028 a0029c0039	a0003c0012t0018 a0005c0004t0006 a0005c0004t0007 others(8): Show a0003c0012t0018 a0005c0004t0006 a0005c0004t0007 a0005c0004t0008 a0005c0004t0021 a0010c0011t0007 a0010c0011t0024 a0014c0020t0029 a0026c0032t0007 a0027c0028t0003 a0029c0039t0001	a0003c0012t0018g0008 a0005c0004t0006g0202 a0005c0004t0006g0220 others(20): Show a0003c0012t0018g0008 a0005c0004t0006g0202 a0005c0004t0006g0220 a0005c0004t0006g0221 a0005c0004t0006g0222 a0005c0004t0006g0238 a0005c0004t0006g0239 a0005c0004t0006g0240 a0005c0004t0007g0016 a0005c0004t0008g0247 a0005c0004t0008g0248 a0005c0004t0008g0250 a0005c0004t0008g0254 a0005c0004t0008g0255 a0005c0004t0021g0006 a0010c0011t0007g0156 a0010c0011t0007g0168 a0010c0011t0007g0174 a0010c0011t0024g0063 a0014c0020t0029g0029 a0026c0032t0007g0046 a0027c0028t0003g0259 a0029c0039t0001g0072	23	262	0.0878	-51	c.207 others(68): Show c.2071+274_2072-266delGCTACAGAACATTTTAAGAATTGGACAG GATGGATGTGGGCTTGGTCAAGA	LRIG1	ENSG00000144749.14	transcript	ENST00000273261.8	protein_coding	14/18			chr3	TogoVar
LRP5_chr11_68307591_68454275	68390714	GGGTTTCA others(44): Show GGGTTTCAGTGGCCTCGTCCTGTGGACGCAGCCTCGCCCTGCCGCTGTGG TC	G G	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0003 a0001c0004t0001g0003	1	210	0.0048	-51	c.158 others(68): Show c.1584+665_1584+715delTTTCAGTGGCCTCGTCCTGTGGACGCAG CCTCGCCCTGCCGCTGTGGTCGG	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr11	TogoVar
LRRC27_chr10_132327193_132386508	132364342	ACTTAATC others(44): Show ACTTAATCTACCTCCACACCCGCGCTTACACCCACCCACACTTACACCCA CC	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG03486.hp1 HG02717.hp2 HG03486.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0017 a0001c0006t0026 a0001c0006t0017 a0001c0006t0026	a0001c0006t0017g0113 a0001c0006t0026g0114 a0001c0006t0017g0113 a0001c0006t0026g0114	2	287	0.0070	-51	c.129 others(70): Show c.1290-1077_1290-1027delATCTACCTCCACACCCGCGCTTACAC CCACCCACACTTACACCCACCCTTA	LRRC27	ENSG00000148814.18	transcript	ENST00000368614.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRC3B_chr3_26617772_26715776	26639474	GAATCTTT others(44): Show GAATCTTTAAATTTAAATTAAATTTAAATTAAATTAAATTAAATTAAATT AA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp2 HG00558.hp2 others(81): Show HG00544.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp2 HG00621.hp1 HG00639.hp1 HG00673.hp1 HG00673.hp2 HG01071.hp2 HG01123.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp2 HG02486.hp1 HG02523.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03098.hp2 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03516.hp2 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04199.hp2 NA18939.hp2 NA18942.hp1 NA18952.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18962.hp2 NA18963.hp1 NA18964.hp1 NA18967.hp1 NA18971.hp1 NA18972.hp2 NA18977.hp2 NA18982.hp1 NA18983.hp2 NA18990.hp1 NA18992.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp1 NA19012.hp1 NA19030.hp2 NA19060.hp1 NA19063.hp1 NA19070.hp2 NA19074.hp2 NA19083.hp1 NA19085.hp1 NA19240.hp2 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0037 others(80): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0240 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0002g0129 a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0002g0134 a0001c0001t0002g0211 a0001c0001t0002g0290 a0001c0002t0001g0241 a0001c0002t0001g0255 a0001c0002t0001g0261 a0001c0002t0002g0138 a0001c0002t0002g0252 a0001c0002t0002g0262	84	367	0.2289	-51	c.-16 others(72): Show c.-161+16239_-161+16289delATCTTTAAATTTAAATTAAATTTA AATTAAATTAAATTAAATTAAATTAAA	LRRC3B	ENSG00000179796.13	transcript	ENST00000396641.7	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
LRRC4C_chr11_40109209_41464652	40665314	AAAAAAAA others(44): Show AAAAAAAAAAAAATATATATATATATATATATATATATATATATATATAT GT	A A	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02055.hp2 HG02698.hp2 others(1): Show HG01261.hp1 HG02055.hp2 HG02698.hp2 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0002t0002g0008 others(1): Show a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0002t0002g0008 a0001c0002t0002g0012	4	48	0.0833	-51	c.-40 others(72): Show c.-406-17087_-406-17037delACATATATATATATATATATATAT ATATATATATATATATTTTTTTTTTTT	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	2/6			chr11	TogoVar
LRRC4C_chr11_40109209_41464652	40665316	AAAAAAAA others(44): Show AAAAAAAAAAATATATATATATATATATATATATATATATATATATATGT AT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02922.hp1 HG03139.hp1 HG02717.hp1 HG02922.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0043 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0043	3	48	0.0625	-51	c.-40 others(72): Show c.-406-17089_-406-17039delATACATATATATATATATATATAT ATATATATATATATATATTTTTTTTTT	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	2/6			chr11	TogoVar
LRRC4C_chr11_40109209_41464652	40665318	AAAAAAAA others(44): Show AAAAAAAAATATATATATATATATATATATATATATATATATATATGTAT AT	A A	intron_variant intron_variant	MODIFIER	HG02970.hp2 NA19030.hp1 HG02970.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0027 a0001c0001t0002g0009 a0001c0001t0001g0027 a0001c0001t0002g0009	2	46	0.0435	-51	c.-40 others(72): Show c.-406-17091_-406-17041delATATACATATATATATATATATAT ATATATATATATATATATATTTTTTTT	LRRC4C	ENSG00000148948.8	transcript	ENST00000528697.6	protein_coding	2/6			chr11	TogoVar
LSM6_chr4_146170718_146196535	146172133	CTTTCTTT others(44): Show CTTTCTTTCTTTCTTCTTTCTTTCTTTCTTCCTTCTTTCTTTCTTTCTTT CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0041 a0001c0001t0009g0041	1	369	0.0027	-51	c.-36 others(62): Show c.-3688_-3638delTTTCTTTCTTTCTTCTTTCTTTCTTTCTTCCTTC TTTCTTTCTTTCTTTCT	LSM6	ENSG00000164167.12	transcript	ENST00000296581.11	protein_coding		3584		chr4	TogoVar
LUC7L_chr16_183990_234449	187199	GACACGGG others(44): Show GACACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAATAC CA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 NA18943.hp1 HG03834.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0222 a0001c0001t0001g0239 a0001c0001t0001g0222 a0001c0001t0001g0239	2	347	0.0058	-51	c.19 others(62): Show c.1948_*1998delTGGTATTCCCCCCGTGTCGCTGTTCCCCCCGTGT CGCTGTTCCCCCCGTGT	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		1790		chr16	TogoVar
LYRM7_chr5_131165944_131210428	131181346	ATGTTATA others(44): Show ATGTTATATATATATTAACATATATATGTATATATAATATATACATATAT AT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01261.hp2 HG01884.hp1 others(22): Show HG00741.hp2 HG01261.hp2 HG01884.hp1 HG02055.hp1 HG02055.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp2 HG02615.hp2 HG02647.hp1 HG02895.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03516.hp1 NA18906.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0007 a0001c0001t0021 others(7): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0021 a0001c0001t0022 a0001c0001t0028 a0001c0001t0030 a0001c0001t0063 a0001c0001t0064 a0002c0003t0029 a0002c0003t0065	a0001c0001t0002g0251 a0001c0001t0007g0009 a0001c0001t0007g0027 others(20): Show a0001c0001t0002g0251 a0001c0001t0007g0009 a0001c0001t0007g0027 a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0007g0032 a0001c0001t0007g0033 a0001c0001t0007g0034 a0001c0001t0007g0035 a0001c0001t0021g0056 a0001c0001t0021g0058 a0001c0001t0021g0059 a0001c0001t0022g0010 a0001c0001t0022g0061 a0001c0001t0028g0054 a0001c0001t0028g0055 a0001c0001t0030g0028 a0001c0001t0030g0029 a0001c0001t0063g0057 a0001c0001t0064g0060 a0002c0003t0029g0026 a0002c0003t0029g0052 a0002c0003t0065g0053	25	298	0.0839	-51	c.92- others(64): Show c.92-881_92-831delGTTATATATATATTAACATATATATGTATATA TAATATATACATATATATT	LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
M1AP_chr2_74552883_74653330	74561103	GAGGAGGA others(44): Show GAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGA GA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	246	0.0041	-51	c.128 others(68): Show c.1282-863_1282-813delTCTCCTCCTCCTTCTCCTCCTCCTCCTT CTCCTCCTCCTCCTTCTCCTCCT	M1AP	ENSG00000159374.18	transcript	ENST00000421985.2	protein_coding	8/10			chr2	TogoVar
MAD1L1_chr7_1810795_2237945	1870241	ATAACACC others(44): Show ATAACACCTGCCACGCTGAACCCAACATATGCCTGCCACGCTGAACCGAC CG	A A	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	261	0.0038	-51	c.199 others(72): Show c.1998+27908_1998+27958delCGGTCGGTTCAGCGTGGCAGGCAT ATGTTGGGTTCAGCGTGGCAGGTGTTA	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2132372	TGTGCGAC others(44): Show TGTGCGACCGCGCGTCCACCATCACGGCCGCGTGCAGTCGGTTCACTGCT GC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp2 HG00408.hp1 others(97): Show HG00099.hp2 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01074.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01255.hp2 HG01361.hp1 HG01433.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp2 HG02109.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02698.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG03130.hp1 HG03195.hp1 HG03225.hp1 HG03239.hp2 HG03516.hp1 HG03710.hp1 HG03834.hp1 HG03927.hp2 HG04228.hp1 NA18612.hp1 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18963.hp1 NA18967.hp1 NA18969.hp1 NA18969.hp2 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19081.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp2 NA20752.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0001c0004 others(9): Show a0001c0001 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0011 a0002c0002 a0002c0005 a0002c0009 a0002c0012 a0003c0014 a0004c0008	a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 others(13): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0008 a0001c0003t0001 a0001c0004t0003 a0001c0006t0001 a0001c0007t0004 a0001c0011t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0005t0001 a0002c0009t0001 a0002c0012t0001 a0003c0014t0001 a0004c0008t0001	a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0091 others(97): Show a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0091 a0001c0001t0001g0165 a0001c0001t0001g0169 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0188 a0001c0001t0001g0191 a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0248 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0005g0136 a0001c0001t0008g0001 a0001c0003t0001g0005 a0001c0003t0001g0016 a0001c0003t0001g0029 a0001c0003t0001g0033 a0001c0003t0001g0036 a0001c0003t0001g0039 a0001c0003t0001g0042 a0001c0003t0001g0051 a0001c0003t0001g0072 a0001c0003t0001g0073 a0001c0003t0001g0089 a0001c0004t0003g0116 a0001c0006t0001g0218 a0001c0007t0004g0079 a0001c0007t0004g0080 a0001c0011t0001g0244 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0176 a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0010g0264 a0002c0005t0001g0090 a0002c0005t0001g0104 a0002c0005t0001g0112 a0002c0005t0001g0120 a0002c0005t0001g0192 a0002c0005t0001g0197 a0002c0009t0001g0096 a0002c0012t0001g0044 a0003c0014t0001g0067 a0004c0008t0001g0194	100	262	0.3817	-51	c.107 others(72): Show c.1073+16729_1073+16779delGCAGCAGTGAACCGACTGCACGCG GCCGTGATGGTGGACGCGCGGTCGCAC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	11/18			chr7	TogoVar
MALRD1_chr10_19043801_19739478	19238468	AATATATA others(44): Show AATATATAATATACATTATATATAATATATAATATAATATATAATGTATA TT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA19063.hp1 NA18971.hp1 NA19063.hp1	a0002 a0007 a0002 a0007	a0002c0112 a0007c0059 a0002c0112 a0007c0059	a0002c0112t0001 a0007c0059t0001 a0002c0112t0001 a0007c0059t0001	a0002c0112t0001g0142 a0007c0059t0001g0041 a0002c0112t0001g0142 a0007c0059t0001g0041	2	125	0.0160	-51	c.299 others(72): Show c.2992-19183_2992-19133delATAATATATAATGTATATTATATA TAATATACATTATATATAATATATAAT	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19428971	CATAAATA others(44): Show CATAAATAGCCATATATTTTACTTTGGAAGTATTCCTGTATGTTATTATG GA	C C	intron_variant intron_variant	MODIFIER	NA18981.hp2 NA18981.hp2	a0001 a0001	a0001c0025 a0001c0025	a0001c0025t0001 a0001c0025t0001	a0001c0025t0001g0127 a0001c0025t0001g0127	1	150	0.0067	-51	c.484 others(72): Show c.4846-21334_4846-21284delTAAATAGCCATATATTTTACTTTG GAAGTATTCCTGTATGTTATTATGGAA	MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	28/39		INFO_REALIGN_3_PRIME	chr10	TogoVar
MAN1B1_chr9_137081985_137114183	137114132	CCCCCGCC others(44): Show CCCCCGCCCGCGACCCCGCCCGGCACCCGCGTGCCCCGCGACCCCCGCCC GC	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 NA20805.hp1 HG04184.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0033 a0001c0001t0002g0222 a0001c0001t0001g0033 a0001c0001t0002g0222	2	404	0.0050	-51	c.55 others(62): Show c.5542_*5592delCCCCGCCCGCGACCCCGCCCGGCACCCGCGTGCC CCGCGACCCCCGCCCGC	MAN1B1	ENSG00000177239.16	transcript	ENST00000371589.9	protein_coding		4950		chr9	TogoVar
MAP3K12_chr12_53474669_53504458	53498953	TGTGTGTG others(44): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG TG	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	326	0.0031	-51	c.-38 others(66): Show c.-38+423_-38+473delCACACACACACACACACACACACACACACA CACACACACACACACACACAC	MAP3K12	ENSG00000139625.13	transcript	ENST00000547488.6	protein_coding	1/13			chr12	TogoVar
MAP3K15_chrX_19355059_19520508	19452300	GAAGAGAA others(44): Show GAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGA GA	G G	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	161	0.0062	-51	c.995 others(68): Show c.995+4562_995+4612delTCTCTTCTCTTCTCTTCTCTTCTCTTCT CTTCTCTTCTCTTCTCTTCTCTT	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	6/28			chrX	TogoVar
MAP3K21_chr1_233322724_233390148	233339217	TTCTTCTT others(44): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT CC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02897.hp1 HG02895.hp2 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	2	370	0.0054	-51	c.806 others(68): Show c.806-7201_806-7151delTTCTTCTTCTTCTTCTTCTTCTTCTTCC TCTTCTTCTTCTTCTTCTTCTTC	MAP3K21	ENSG00000143674.11	transcript	ENST00000366624.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
MCF2L_chr13_112964214_113104742	113092378	AGAGCCGG others(44): Show AGAGCCGGGCCACTGCCCGTGGGTCATTTCCACCGTGGCCAGTGTGGTGT CG	A A	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03492.hp1 NA20805.hp1 HG03490.hp1 HG03492.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0005 a0001c0001t0001g0032 a0001c0001t0001g0033	3	114	0.0263	-51	c.295 others(70): Show c.2954-2135_2954-2085delGAGCCGGGCCACTGCCCGTGGGTCAT TTCCACCGTGGCCAGTGTGGTGTCG	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	26/29			chr13	TogoVar
MED16_chr19_862963_898187	866515	ACCAGTGC others(44): Show ACCAGTGCTCCCATCTCCTCCCCGTCCACCCGCCGCAGGCCTGCACCCCT CG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18995.hp1 NA18995.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0010 a0002c0007t0001g0010	1	54	0.0185	-51	c.15 others(62): Show c.1535_*1585delCGAGGGGTGCAGGCCTGCGGCGGGTGGACGGGGA GGAGATGGGAGCACTGG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1447		chr19	TogoVar
MED16_chr19_862963_898187	866520	TGCTCCCA others(44): Show TGCTCCCATCTCCTCCCCGTCCACCCGCCGCAGGCCTGCACCCCTCGCCA GC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01258.hp1 HG01256.hp2 HG01258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0040 a0001c0001t0001g0042	2	41	0.0488	-51	c.15 others(62): Show c.1530_*1580delGCTGGCGAGGGGTGCAGGCCTGCGGCGGGTGGAC GGGGAGGAGATGGGAGC	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1442		chr19	TogoVar
MED16_chr19_862963_898187	866580	CTCCTCCC others(44): Show CTCCTCCCCGTCCACCCGCCGCGGGCCTGCACCCCTCGCCAGCGCTCCCA TG	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01070.hp1 others(29): Show HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01099.hp1 HG01099.hp2 HG01258.hp2 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG03688.hp2 HG04199.hp1 NA18906.hp1 NA18906.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18973.hp2 NA18995.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0009	a0001c0001 a0001c0002 a0001c0004 others(13): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0013 a0001c0014 a0002c0003 a0002c0008 a0002c0012 a0002c0020 a0002c0022 a0002c0023 a0003c0010 a0004c0019 a0005c0021 a0009c0024	a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 others(15): Show a0001c0001t0001 a0001c0001t0008 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0006t0001 a0001c0013t0001 a0001c0014t0003 a0002c0003t0001 a0002c0008t0001 a0002c0012t0005 a0002c0020t0001 a0002c0022t0001 a0002c0023t0001 a0003c0010t0001 a0004c0019t0001 a0005c0021t0001 a0009c0024t0003	a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0008g0056 others(29): Show a0001c0001t0001g0039 a0001c0001t0001g0050 a0001c0001t0008g0056 a0001c0002t0001g0019 a0001c0002t0001g0022 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0038 a0001c0002t0001g0048 a0001c0002t0002g0021 a0001c0004t0001g0015 a0001c0004t0001g0054 a0001c0006t0001g0035 a0001c0006t0001g0036 a0001c0013t0001g0034 a0001c0014t0003g0002 a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0017 a0002c0003t0001g0033 a0002c0008t0001g0018 a0002c0012t0005g0025 a0002c0020t0001g0008 a0002c0022t0001g0011 a0002c0023t0001g0005 a0003c0010t0001g0037 a0004c0019t0001g0016 a0005c0021t0001g0004 a0009c0024t0003g0001	32	53	0.6038	-51	c.14 others(62): Show c.1470_*1520delCATGGGAGCGCTGGCGAGGGGTGCAGGCCCGCGG CGGGTGGACGGGGAGGA	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1382		chr19	TogoVar
MED16_chr19_862963_898187	866848	GCCCACTG others(44): Show GCCCACTGCGGGCCCGCACCCCTCGCCAGCGCTCCCATCTCCTCTCCGTC CA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01070.hp1 others(18): Show HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01099.hp2 HG01258.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03540.hp2 HG04199.hp1 NA18906.hp1 NA18906.hp2 NA18970.hp2	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0009	a0001c0001 a0001c0004 a0001c0006 others(10): Show a0001c0001 a0001c0004 a0001c0006 a0001c0013 a0002c0003 a0002c0008 a0002c0012 a0002c0020 a0002c0022 a0002c0023 a0004c0019 a0005c0021 a0009c0024	a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 others(11): Show a0001c0001t0001 a0001c0001t0008 a0001c0004t0001 a0001c0006t0001 a0001c0013t0001 a0002c0003t0001 a0002c0008t0001 a0002c0012t0005 a0002c0020t0001 a0002c0022t0001 a0002c0023t0001 a0004c0019t0001 a0005c0021t0001 a0009c0024t0003	a0001c0001t0001g0039 a0001c0001t0008g0056 a0001c0004t0001g0015 others(18): Show a0001c0001t0001g0039 a0001c0001t0008g0056 a0001c0004t0001g0015 a0001c0004t0001g0054 a0001c0006t0001g0035 a0001c0006t0001g0036 a0001c0013t0001g0034 a0002c0003t0001g0006 a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0003t0001g0012 a0002c0003t0001g0017 a0002c0003t0001g0033 a0002c0008t0001g0018 a0002c0012t0005g0025 a0002c0020t0001g0008 a0002c0022t0001g0011 a0002c0023t0001g0005 a0004c0019t0001g0016 a0005c0021t0001g0004 a0009c0024t0003g0001	21	47	0.4468	-51	c.12 others(62): Show c.1202_*1252delTGGACGGAGAGGAGATGGGAGCGCTGGCGAGGGG TGCGGGCCCGCAGTGGG	MED16	ENSG00000175221.16	transcript	ENST00000325464.6	protein_coding		1114		chr19	TogoVar
MGAM_chr7_141990879_142111747	142042227	TATATAAC others(44): Show TATATAACATATATTATATATACATATAATATATAACATATATTATATAT AC	T T	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0001 a0004c0012t0001	a0004c0012t0001g0228 a0004c0012t0001g0228	1	306	0.0033	-51	c.249 others(70): Show c.2498+1388_2498+1438delCATATATTATATATACATATAATATA TAACATATATTATATATACATATAA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142042314	TATATAAC others(44): Show TATATAACATATATTATATATACATATAATATATAACATATATTATATAT AC	T T	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG02738.hp1 NA18612.hp2 others(1): Show HG01928.hp1 HG02738.hp1 NA18612.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0014 others(1): Show a0001c0002 a0001c0006 a0001c0014 a0001c0043	a0001c0002t0001 a0001c0006t0001 a0001c0014t0001 others(1): Show a0001c0002t0001 a0001c0006t0001 a0001c0014t0001 a0001c0043t0001	a0001c0002t0001g0111 a0001c0006t0001g0113 a0001c0014t0001g0297 others(1): Show a0001c0002t0001g0111 a0001c0006t0001g0113 a0001c0014t0001g0297 a0001c0043t0001g0212	4	312	0.0128	-51	c.249 others(70): Show c.2498+1475_2498+1525delCATATATTATATATACATATAATATA TAACATATATTATATATACATATAA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70		INFO_REALIGN_3_PRIME	chr7	TogoVar
MGAM_chr7_141990879_142111747	142042340	TAATATAT others(44): Show TAATATATAACATATATTATATATACATATAATATATAACATATATTATA TA	T T	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0035 a0035	a0035c0032 a0035c0032	a0035c0032t0001 a0035c0032t0001	a0035c0032t0001g0293 a0035c0032t0001g0293	1	307	0.0033	-51	c.249 others(70): Show c.2498+1495_2498+1545delAATATATAACATATATTATATATACA TATAATATATAACATATATTATATA	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	21/70			chr7	TogoVar
MGAT4B_chr5_179792610_179811866	179811342	CTATGCAG others(44): Show CTATGCAGGGGGAGGAGCTATGCAGGGGGAGGAGCATGCAGGGGGAGGAG CT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01496.hp1 HG01168.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	410	0.0049	-51	c.-48 others(62): Show c.-4810_-4760delAGCTCCTCCCCCTGCATGCTCCTCCCCCTGCATA GCTCCTCCCCCTGCATA	MGAT4B	ENSG00000161013.17	transcript	ENST00000292591.12	protein_coding		4477		chr5	TogoVar
MGAT5_chr2_134249072_134459621	134381331	ATAGATAG others(44): Show ATAGATAGATAGATAGATAGATAGATAGATAGATAGATAAGATAAGATAG AT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01192.hp2 HG01070.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0090 a0001c0001t0006 a0001c0001t0090	a0001c0001t0006g0261 a0001c0001t0090g0262 a0001c0001t0006g0261 a0001c0001t0090g0262	2	280	0.0071	-51	c.138 others(72): Show c.1380+18962_1380+19012delAGATAAGATAGATTAGATAGATAG ATAGATAGATAGATAGATAGATAGATA	MGAT5	ENSG00000152127.9	transcript	ENST00000281923.4	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MIA2_chr14_39228915_39355694	39277671	TTTATATA others(44): Show TTTATATATATATATATGTGTGTATATATATATATATATATATATGTGTG TA	T T	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0222 a0001c0002t0001g0222	1	365	0.0027	-51	c.201 others(68): Show c.2019+608_2019+658delTATATATATATATATGTGTGTATATATA TATATATATATATATGTGTGTAT	MIA2	ENSG00000150527.18	transcript	ENST00000640607.2	protein_coding	7/28		INFO_REALIGN_3_PRIME	chr14	TogoVar
MIB2_chr1_1610500_1635605	1627438	CCCTGGGG others(44): Show CCCTGGGGTGAGGCCTGGGAGGGGCCCGGCCGGCGGGGCTGAGCCTGTGC GT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00609.hp1 others(26): Show HG00544.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp2 HG01123.hp1 HG02056.hp2 HG02074.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02559.hp1 HG02630.hp2 HG02809.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG03130.hp1 HG03453.hp1 HG03490.hp1 HG03831.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp2 NA18957.hp1 NA18969.hp2 NA18986.hp2 NA19070.hp2 NA19091.hp1 NA19240.hp2	a0002 a0012 a0002 a0012	a0002c0003 a0002c0010 a0002c0017 others(5): Show a0002c0003 a0002c0010 a0002c0017 a0002c0025 a0002c0026 a0002c0028 a0002c0030 a0012c0027	a0002c0003t0001 a0002c0003t0002 a0002c0010t0002 others(6): Show a0002c0003t0001 a0002c0003t0002 a0002c0010t0002 a0002c0017t0001 a0002c0025t0001 a0002c0026t0001 a0002c0028t0002 a0002c0030t0001 a0012c0027t0001	a0002c0003t0001g0009 a0002c0003t0001g0018 a0002c0003t0002g0022 others(15): Show a0002c0003t0001g0009 a0002c0003t0001g0018 a0002c0003t0002g0022 a0002c0003t0002g0024 a0002c0003t0002g0101 a0002c0003t0002g0102 a0002c0003t0002g0103 a0002c0003t0002g0124 a0002c0010t0002g0111 a0002c0010t0002g0112 a0002c0010t0002g0123 a0002c0010t0002g0133 a0002c0017t0001g0068 a0002c0025t0001g0065 a0002c0026t0001g0009 a0002c0028t0002g0100 a0002c0030t0001g0009 a0012c0027t0001g0009	29	410	0.0707	-51	c.152 others(67): Show c.1523+75_1524-104delCGGCGGGGCTGAGCCTGTGCGTCCTGGGG TGAGGCCTGGGAGGGGCCCGGC	MIB2	ENSG00000197530.13	transcript	ENST00000355826.10	protein_coding	12/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MLC1_chr22_50054391_50090426	50060759	TGTGGCAC others(44): Show TGTGGCACTCCAAGCTGGGCATGACAGTGCCCGGGACGTGGGCAGCGGCC AC	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00733.hp2 HG01243.hp1 HG01255.hp2 others(9): Show HG00733.hp2 HG01243.hp1 HG01255.hp2 HG01496.hp2 HG02004.hp2 HG02148.hp2 HG02273.hp1 HG02622.hp2 HG02886.hp2 HG03098.hp1 NA19090.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0009 a0001c0001 a0001c0005 a0001c0009	a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 others(4): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0016 a0001c0005t0013 a0001c0009t0014	a0001c0001t0009g0011 a0001c0001t0009g0078 a0001c0001t0009g0088 others(7): Show a0001c0001t0009g0011 a0001c0001t0009g0078 a0001c0001t0009g0088 a0001c0001t0010g0014 a0001c0001t0012g0108 a0001c0001t0012g0116 a0001c0001t0013g0089 a0001c0001t0016g0107 a0001c0005t0013g0064 a0001c0009t0014g0105	12	210	0.0571	-51	c.77 others(60): Show c.773_*823delGTGGCCGCTGCCCACGTCCCGGGCACTGTCATGCCC AGCTTGGAGTGCCAC	MLC1	ENSG00000100427.16	transcript	ENST00000311597.10	protein_coding	12/12	773		chr22	TogoVar
MLPH_chr2_237482251_237560322	237542921	TGGGGACA others(44): Show TGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAG TG	T T	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01099.hp1 others(36): Show HG00140.hp1 HG00642.hp2 HG01099.hp1 HG02056.hp2 HG02074.hp2 HG02300.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02622.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG02886.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03139.hp2 HG03225.hp2 HG03239.hp1 HG03471.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp2 NA18522.hp1 NA18522.hp2 NA18945.hp1 NA18948.hp1 NA19003.hp2 NA19011.hp1 NA19081.hp1 NA19082.hp1 NA19090.hp2 NA19091.hp2 NA21309.hp2	a0001 a0002 a0003 others(9): Show a0001 a0002 a0003 a0004 a0006 a0007 a0008 a0014 a0016 a0023 a0030 a0033	a0001c0001 a0002c0002 a0002c0049 others(10): Show a0001c0001 a0002c0002 a0002c0049 a0003c0003 a0004c0005 a0006c0006 a0007c0007 a0008c0011 a0014c0020 a0016c0024 a0023c0047 a0030c0028 a0033c0032	a0001c0001t0002 a0002c0002t0002 a0002c0049t0002 others(15): Show a0001c0001t0002 a0002c0002t0002 a0002c0049t0002 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0005 a0004c0005t0004 a0006c0006t0003 a0006c0006t0005 a0007c0007t0002 a0008c0011t0001 a0014c0020t0002 a0014c0020t0009 a0016c0024t0001 a0023c0047t0005 a0030c0028t0001 a0033c0032t0002	a0001c0001t0002g0101 a0001c0001t0002g0102 a0002c0002t0002g0065 others(36): Show a0001c0001t0002g0101 a0001c0001t0002g0102 a0002c0002t0002g0065 a0002c0002t0002g0088 a0002c0002t0002g0099 a0002c0049t0002g0063 a0003c0003t0001g0109 a0003c0003t0001g0110 a0003c0003t0001g0111 a0003c0003t0001g0114 a0003c0003t0001g0228 a0003c0003t0001g0239 a0003c0003t0002g0026 a0003c0003t0002g0237 a0003c0003t0002g0238 a0003c0003t0002g0259 a0003c0003t0003g0128 a0003c0003t0003g0137 a0003c0003t0003g0240 a0003c0003t0005g0139 a0004c0005t0004g0192 a0006c0006t0003g0123 a0006c0006t0005g0023 a0006c0006t0005g0142 a0007c0007t0002g0032 a0007c0007t0002g0033 a0007c0007t0002g0034 a0007c0007t0002g0035 a0007c0007t0002g0037 a0007c0007t0002g0226 a0007c0007t0002g0227 a0008c0011t0001g0091 a0008c0011t0001g0092 a0014c0020t0002g0172 a0014c0020t0009g0173 a0016c0024t0001g0143 a0023c0047t0005g0039 a0030c0028t0001g0131 a0033c0032t0002g0052	39	274	0.1423	-51	c.153 others(68): Show c.1539+267_1539+317delACAGTGGTGAGTGGGGGGACAGTGGTGA GTGGGCACGGTAGTGAGTGGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543041	TGGGGGGA others(44): Show TGGGGGGACAGTGGTGAGTGGGCACGGTAGTGAGTGGGGAGACAGTGGTG AG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03540.hp2 HG02647.hp2 HG03540.hp2	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0003 a0013c0017t0003	a0013c0017t0003g0008 a0013c0017t0003g0009 a0013c0017t0003g0008 a0013c0017t0003g0009	2	271	0.0074	-51	c.153 others(68): Show c.1539+383_1539+433delGGGGGGACAGTGGTGAGTGGGCACGGTA GTGAGTGGGGAGACAGTGGTGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar
MLPH_chr2_237482251_237560322	237543213	TTGGGGGA others(44): Show TTGGGGGACAGTGGTGAGTGGGCACAGTAGTGAGTAGGGGGACAGTGGTG AA	T T	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18941.hp1 NA18980.hp1 HG00621.hp2 NA18941.hp1 NA18980.hp1	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0002 a0005c0004t0001 a0005c0004t0002	a0005c0004t0001g0013 a0005c0004t0001g0015 a0005c0004t0002g0012 a0005c0004t0001g0013 a0005c0004t0001g0015 a0005c0004t0002g0012	3	260	0.0115	-51	c.153 others(68): Show c.1539+571_1539+621delGTGGGCACAGTAGTGAGTAGGGGGACAG TGGTGAATGGGGGACAGTGGTGA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLPH_chr2_237482251_237560322	237543247	TAGGGGGA others(44): Show TAGGGGGACAGTGGTGAATGGGGGACAGTGGTGAATGGGGGACAGTGGTG AG	T T	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02717.hp1 HG02886.hp2 others(1): Show HG02258.hp2 HG02717.hp1 HG02886.hp2 HG02976.hp1	a0004 a0008 a0012 a0004 a0008 a0012	a0004c0014 a0008c0029 a0012c0013 a0004c0014 a0008c0029 a0012c0013	a0004c0014t0002 a0008c0029t0001 a0012c0013t0002 a0004c0014t0002 a0008c0029t0001 a0012c0013t0002	a0004c0014t0002g0257 a0004c0014t0002g0258 a0008c0029t0001g0127 others(1): Show a0004c0014t0002g0257 a0004c0014t0002g0258 a0008c0029t0001g0127 a0012c0013t0002g0126	4	229	0.0175	-51	c.153 others(68): Show c.1539+589_1539+639delAGGGGGACAGTGGTGAATGGGGGACAGT GGTGAATGGGGGACAGTGGTGAG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15			chr2	TogoVar

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