Joint Open Genome and Omics Platform (JoGo)

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
KRTAP5-4_chr11_1615958_1627138	1621647	T T	TCCTTTGG others(98): Show TCCTTTGGAGCCCCCACAGGAGCCACAGCCCCCCTTGGAACCCCCACAGG AGCCACAGCCCCCCTTGGAGCCCCCACAGGAGCCACAGCCCCCCTTGGAC CCCCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02647.hp2 HG03688.hp2 HG02647.hp2 HG03688.hp2	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0009 a0008c0009t0001 a0008c0009t0009	a0008c0009t0001g0000 a0008c0009t0009g0000 a0008c0009t0001g0000 a0008c0009t0009g0000	2	427	0.0047	105	c.446 others(112): Show c.446_447insTGGGGGGTCCAAGGGGGGCTGTGGCTCCTGTGGGGGCT CCAAGGGGGGCTGTGGCTCCTGTGGGGGTTCCAAGGGGGGCTGTGGCTCC TGTGGGGGCTCCAAAGG	p.Ser others(118): Show p.Ser149_Gly150insGlyGlySerLysGlyGlyCysGlySerCysGl yGlySerLysGlyGlyCysGlySerCysGlyGlySerLysGlyGlyCysG lySerCysGlyGlySerLysGly	KRTAP5-4	ENSG00000241598.6	transcript	ENST00000399682.1	protein_coding	1/1	491/1181	446/687	149/228			chr11	TogoVar
KSR2_chr12_117448012_117973990	117606595	T T	TCCTCCCT others(98): Show TCCTCCCTCCCTTTCTTCCCTACTTCTTTCCCTTCTTCCTTCCCTCCTCC TTCCCTTCCTCCCTCCCTGCCTGCCTCCCTTCCTTTCTTCCTCCCCTTCT TCCTCC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0146 a0001c0003t0004g0146	1	196	0.0051	105	c.117 others(126): Show c.1172-24237_1172-24236insGGAGGAAGAAGGGGAGGAAGAAAG GAAGGGAGGCAGGCAGGGAGGGAGGAAGGGAAGGAGGAGGGAAGGAAGAA GGGAAAGAAGTAGGGAAGAAAGGGAGGGAGG		KSR2	ENSG00000171435.15	transcript	ENST00000339824.7	protein_coding	5/19						chr12	TogoVar
L3MBTL4_chr18_5949717_6419911	6003021	A A	AAGTATCT others(98): Show AAGTATCTCTATTTATAGAGATACTATATAAAATATAGTATCTCTATTTA TAGAGATACTATATAAAATATAGTATCTCTATTTATAGAGATACTATATA AAATAT	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02818.hp2 HG03017.hp1 others(2): Show HG02080.hp2 HG02818.hp2 HG03017.hp1 HG03834.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0002c0002t0001	a0001c0001t0002g0027 a0001c0001t0002g0062 a0001c0001t0003g0069 others(2): Show a0001c0001t0002g0027 a0001c0001t0002g0062 a0001c0001t0003g0069 a0001c0001t0005g0057 a0002c0002t0001g0080	5	94	0.0532	105	c.144 others(126): Show c.1445-33564_1445-33460dupATATTTTATATAGTATCTCTATAA ATAGAGATACTATATTTTATATAGTATCTCTATAAATAGAGATACTATAT TTTATATAGTATCTCTATAAATAGAGATACT		L3MBTL4	ENSG00000154655.16	transcript	ENST00000317931.12	protein_coding	16/18						chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13288757	C C	CGGGGCCA others(98): Show CGGGGCCACGGTAGCAGCCCCACAGACCGTGGTCACTCTGCAAGGTGAGT CACGGGGCCACGGTAGCAGCCCCGCAGACCGTGGTCACTCTGCAAGGTGA GTCACG	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0116 a0001c0001t0001g0116	1	178	0.0056	105	c.-38 others(126): Show c.-383+10572_-383+10573insGCCACGGTAGCAGCCCCACAGACC GTGGTCACTCTGCAAGGTGAGTCACGGGGCCACGGTAGCAGCCCCGCAGA CCGTGGTCACTCTGCAAGGTGAGTCACGGGG		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LDLRAD4_chr18_13213760_13657751	13288757	C C	CGGGGCCA others(98): Show CGGGGCCACGGTAGCAGCCCCGCAGACCGTGGTCACTCTGCAAGGTGAGT CACGGGGCCACGGTAGCAGCCCCGCAGACCGTGGTCACTCTGCAAGGTGA GTCACG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0135 a0001c0001t0005g0135	1	178	0.0056	105	c.-38 others(126): Show c.-383+10572_-383+10573insGCCACGGTAGCAGCCCCGCAGACC GTGGTCACTCTGCAAGGTGAGTCACGGGGCCACGGTAGCAGCCCCGCAGA CCGTGGTCACTCTGCAAGGTGAGTCACGGGG		LDLRAD4	ENSG00000168675.19	transcript	ENST00000359446.11	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr18	TogoVar
LIN28B_chr6_104952107_105088332	105023501	T T	TATTATAT others(98): Show TATTATATATAATATATATTATATTATATTATATATAATATATATAATAT ATAATATTATATAATATATATAATATATATAAAATATATATAATATATAA CCTATA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	278	0.0036	105	c.199 others(122): Show c.199-2797_199-2796insATTATATATAATATATATTATATTATAT TATATATAATATATATAATATATAATATTATATAATATATATAATATATA TAAAATATATATAATATATAACCTATA		LIN28B	ENSG00000187772.8	transcript	ENST00000345080.5	protein_coding	2/3						chr6	TogoVar
LMLN_chr3_197955217_198048720	197977606	T T	TCAAACAA others(98): Show TCAAACAATCTGGAAGCACACACATGTTAAATCTGGATACATATAAAAAT CATCAAACAATCTGGAAGTATACACACGTTAAATCTGGATACATATAAAA AATCAC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0020 a0002c0002t0002g0020	1	258	0.0039	105	c.525 others(120): Show c.525+913_525+914insATGTTAAATCTGGATACATATAAAAATCAT CAAACAATCTGGAAGTATACACACGTTAAATCTGGATACATATAAAAAAT CACCAAACAATCTGGAAGCACACAC		LMLN	ENSG00000185621.11	transcript	ENST00000420910.7	protein_coding	5/16					INFO_REALIGN_3_PRIME	chr3	TogoVar
LMNB2_chr19_2423166_2461959	2433165	G G	GTTACCCC others(98): Show GTTACCCCCATGCCCCGGTCATTCCGGTCACCTTGTCCCCTGCCTCGCAT TGGCCGGCGGCCCCGTCACCCTGACCCTGGTCACCCCCATCAGCTAGGTC ACTCCA	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0142 a0001c0001t0003g0142	1	356	0.0028	105	c.148 others(122): Show c.1483-643_1483-642insTGGAGTGACCTAGCTGATGGGGGTGACC AGGGTCAGGGTGACGGGGCCGCCGGCCAATGCGAGGCAGGGGACAAGGTG ACCGGAATGACCGGGGCATGGGGGTAA		LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11						chr19	TogoVar
LMNB2_chr19_2423166_2461959	2433290	A A	ATTCCGGT others(98): Show ATTCCGGTCACCTTGTCCCCTGCCTCGCATTGGCCGGCGGCCCCGTCACC CTGACCCTGGTCACCCCCATCAGCTAGGTCACTCCATTACCCCCATGCCC CGGTCT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01884.hp1 HG01928.hp2 others(27): Show HG01070.hp1 HG01884.hp1 HG01928.hp2 HG01934.hp1 HG02109.hp2 HG02155.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp1 HG02622.hp2 HG02683.hp2 HG02723.hp2 HG02809.hp2 HG02965.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp2 NA18941.hp2 NA18962.hp1 NA18969.hp1 NA19010.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0019	a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0003g0008 others(22): Show a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0003g0008 a0001c0001t0003g0015 a0001c0001t0003g0017 a0001c0001t0003g0104 a0001c0001t0003g0105 a0001c0001t0003g0107 a0001c0001t0003g0121 a0001c0001t0003g0122 a0001c0001t0003g0123 a0001c0001t0003g0125 a0001c0001t0003g0126 a0001c0001t0003g0127 a0001c0001t0003g0128 a0001c0001t0003g0132 a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0242 a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 a0001c0001t0007g0018 a0001c0001t0007g0137 a0001c0001t0019g0135	30	356	0.0843	105	c.148 others(122): Show c.1482+535_1482+536insAGACCGGGGCATGGGGGTAATGGAGTGA CCTAGCTGATGGGGGTGACCAGGGTCAGGGTGACGGGGCCGCCGGCCAAT GCGAGGCAGGGGACAAGGTGACCGGAA		LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11						chr19	TogoVar
LMNB2_chr19_2423166_2461959	2433294	C C	CGGTCACC others(98): Show CGGTCACCTTGTCCCCTGCCTCGCATTGGCCGGCGGCCCCGTCACCCTGA CCCTGGTCACCCCCATCAGCTAGGTCACTCCATTACCCCCATGCCCCGGT CTTTCT	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00738.hp1 HG00741.hp2 others(13): Show HG00323.hp1 HG00738.hp1 HG00741.hp2 HG01070.hp2 HG01071.hp1 HG01106.hp2 HG01358.hp1 HG02148.hp2 HG02738.hp1 HG03017.hp1 HG03239.hp2 HG03654.hp2 HG03704.hp2 HG03710.hp2 HG03834.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0120 a0001c0001t0003g0007 a0001c0001t0003g0099 others(11): Show a0001c0001t0002g0120 a0001c0001t0003g0007 a0001c0001t0003g0099 a0001c0001t0003g0106 a0001c0001t0003g0112 a0001c0001t0003g0113 a0001c0001t0003g0115 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0129 a0001c0001t0003g0248 a0001c0001t0003g0272	16	356	0.0449	105	c.148 others(122): Show c.1482+531_1482+532insAGAAAGACCGGGGCATGGGGGTAATGGA GTGACCTAGCTGATGGGGGTGACCAGGGTCAGGGTGACGGGGCCGCCGGC CAATGCGAGGCAGGGGACAAGGTGACC		LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11						chr19	TogoVar
LMNB2_chr19_2423166_2461959	2433668	C C	CCCCCATC others(98): Show CCCCCATCAGCTGGGTCACCCCCGTTACCCCCATGCCCCGGTCATTCCGG TCACCTTGTCCCCTGCCTCGCATTGGCCGGCAGCCCCGTCACCCTGACCC TGGTCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	356	0.0028	105	c.148 others(122): Show c.1482+157_1482+158insTGACCAGGGTCAGGGTGACGGGGCTGCC GGCCAATGCGAGGCAGGGGACAAGGTGACCGGAATGACCGGGGCATGGGG GTAACGGGGGTGACCCAGCTGATGGGG		LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11						chr19	TogoVar
LMNB2_chr19_2423166_2461959	2433668	C C	CCCCCATC others(98): Show CCCCCATCAGCTGGGTCACCCCGTTACCCCCCATGCCCCGGTCATTCCGG TCACCTTGTCCCCTGCCTCGCATTGGCCGGCAGCCCCGTCACCCTGACCC TGGTCA	intron_variant intron_variant	MODIFIER	HG02148.hp2 HG02148.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0129 a0001c0001t0003g0129	1	356	0.0028	105	c.148 others(122): Show c.1482+157_1482+158insTGACCAGGGTCAGGGTGACGGGGCTGCC GGCCAATGCGAGGCAGGGGACAAGGTGACCGGAATGACCGGGGCATGGGG GGTAACGGGGTGACCCAGCTGATGGGG		LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11						chr19	TogoVar
LMNB2_chr19_2423166_2461959	2433693	A A	ACCCCCAT others(98): Show ACCCCCATGCCCCGGTCATTCCGGTCACCTTGTCCCCTGCCTCGCATTGG CCGGCAGCCCCGTCACCCTGACCCTGGTCACCCCATCAGCTGGGTCACCC CGTTAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0112 a0001c0001t0003g0112	1	356	0.0028	105	c.148 others(122): Show c.1482+132_1482+133insGTAACGGGGTGACCCAGCTGATGGGGTG ACCAGGGTCAGGGTGACGGGGCTGCCGGCCAATGCGAGGCAGGGGACAAG GTGACCGGAATGACCGGGGCATGGGGG		LMNB2	ENSG00000176619.13	transcript	ENST00000325327.4	protein_coding	8/11						chr19	TogoVar
LOC114841035_chr11_64236095_64249132	64237123	G G	GAGAGAGA others(98): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGAGAGAGAGAGAGATATATATATATATATATATATATATATATATATA TATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	330	0.0030	105	c.-41 others(116): Show c.-4157_-4156insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATATATATATAT ATATATATATATATATATATA		LOC114841035	ENSG00000286264.2	transcript	ENST00000652762.2	protein_coding					3971		chr11	TogoVar
LRRTM4_chr2_76742685_77527376	77307527	T T	TAATATAT others(98): Show TAATATATAGATATATCTATATATTATAGAAATATAAATATATAGATATA TCTATATATTATAGAAATATAAATATATAGATATATCTATATATTATAGA AATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02818.hp1 HG02809.hp2 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0002 a0001c0001t0011	a0001c0001t0002g0081 a0001c0001t0011g0120 a0001c0001t0002g0081 a0001c0001t0011g0120	2	128	0.0156	105	c.155 others(128): Show c.1551+210686_1551+210790dupTATATTTCTATAATATATAGAT ATATCTATATATTTATATTTCTATAATATATAGATATATCTATATATTTA TATTTCTATAATATATAGATATATCTATATATT		LRRTM4	ENSG00000176204.14	transcript	ENST00000409884.6	protein_coding	3/3						chr2	TogoVar
LSP1_chr11_1848084_1897263	1874113	G G	GAGGCCGG others(98): Show GAGGCCGGCAGAGGAGGGAGGCTGGCAGAGCAGGGAGGCCGGCGGAGGAG GGAGGCCGGCAGAGCAGGGAGGCCGGCAGAGGAGGGAGGCTGGGGACAGT GGGGGC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01168.hp1 HG06807.hp2 others(1): Show HG00733.hp1 HG01168.hp1 HG06807.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0009 a0002c0001t0001g0017 a0002c0001t0001g0281 others(1): Show a0002c0001t0001g0009 a0002c0001t0001g0017 a0002c0001t0001g0281 a0002c0001t0001g0282	4	360	0.0111	105	c.54- others(120): Show c.54-5970_54-5969insCGGCAGAGGAGGGAGGCTGGCAGAGCAGGG AGGCCGGCGGAGGAGGGAGGCCGGCAGAGCAGGGAGGCCGGCAGAGGAGG GAGGCTGGGGACAGTGGGGGCAGGC		LSP1	ENSG00000130592.17	transcript	ENST00000311604.8	protein_coding	1/10					INFO_REALIGN_3_PRIME	chr11	TogoVar
LUC7L_chr16_183990_234449	186357	G G	GGGAACAG others(98): Show GGGAACAGCGACACGGAGGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGGAACAGCGACACGGGGGGGACAGCGACACGGGGGGGACAGCGACA CGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	350	0.0029	105	c.28 others(116): Show c.2840_*2841insTCCCCGTGTCGCTGTCCCCCCCGTGTCGCTGTCC CCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTG TTCCCTCCGTGTCGCTGTTCC		LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding					2632		chr16	TogoVar
LYPD8_chr1_248734415_248760759	248742256	G G	GTTACGCT others(98): Show GTTACGCTCTGGTGGGGATGTTGGCAGCCGGGGAGATTACGCTCTGGTGG GGATGTTGGCAGCGGGGGAGGTTACGCTCTGGTGGGGATGTTGGCAGCCG GGTAGA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0079 a0001c0001t0005g0079	1	374	0.0027	105	c.476 others(122): Show c.476-2408_476-2407insTCTACCCGGCTGCCAACATCCCCACCAG AGCGTAACCTCCCCCGCTGCCAACATCCCCACCAGAGCGTAATCTCCCCG GCTGCCAACATCCCCACCAGAGCGTAA		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248742748	A A	ATTATGCT others(98): Show ATTATGCTCTGGTGGGGATGTTGGCAGCCGGGGAGGTTATGCTCTGGTGG GGATGTTGGCAGCCAGGGAGATTATGCTCTGGTGGGGATGTTGGCAGCGG GGGAGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	374	0.0027	105	c.475 others(122): Show c.475+2393_475+2394insCCTCCCCCGCTGCCAACATCCCCACCAG AGCATAATCTCCCTGGCTGCCAACATCCCCACCAGAGCATAACCTCCCCG GCTGCCAACATCCCCACCAGAGCATAA		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6						chr1	TogoVar
LYPD8_chr1_248734415_248760759	248742956	G G	GAGGTTAC others(98): Show GAGGTTACGCTCTGGTGGGGATGTTGGCAGCGGGGGAGGTTACGCTCTGG TGGGGATGTTGGCAGCGGGGGAGGTTACGCTCTGGTGGGGATGTTGGCAG CCGGGT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03209.hp2 HG02630.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0079 a0001c0001t0005g0080 a0001c0001t0005g0079 a0001c0001t0005g0080	2	374	0.0054	105	c.475 others(122): Show c.475+2185_475+2186insACCCGGCTGCCAACATCCCCACCAGAGC GTAACCTCCCCCGCTGCCAACATCCCCACCAGAGCGTAACCTCCCCCGCT GCCAACATCCCCACCAGAGCGTAACCT		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6						chr1	TogoVar
MAD1L1_chr7_1810795_2237945	1986461	A A	ACGCCGGC others(98): Show ACGCCGGCAAGGGAGTTCTACTCCGCGGCTCCCTCGCGCCGGCAAGGGGG TTCTACTCCGCGGCTCCCTCGCGCCGGCAAGGGGGTTCTACTCCGCGGCT CCCTCG	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	264	0.0038	105	c.141 others(124): Show c.1417-5921_1417-5920insCGAGGGAGCCGCGGAGTAGAACCCCC TTGCCGGCGCGAGGGAGCCGCGGAGTAGAACCCCCTTGCCGGCGCGAGGG AGCCGCGGAGTAGAACTCCCTTGCCGGCG		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	14/18						chr7	TogoVar
MAEA_chr4_1284891_1345137	1330323	T T	TCTCTCTC others(98): Show TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTCTCCTCTCTCGTCTCTCTCTCGTCTCTCTCTCG TCTCTC	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0293 a0001c0001t0004g0293	1	388	0.0026	105	c.657 others(122): Show c.657-2432_657-2431insCTCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCCTCTCTCGTCT CTCTCTCGTCTCTCTCTCGTCTCTCCT		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	5/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGEC1_chrX_141898894_141914374	141905825	T T	TTGAGTAT others(98): Show TTGAGTATTTTCCAGAGTTCCCCTGAGAGTATTCAAAGTCCTTTTGAGGG TTTTCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCA CTTTAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19068.hp1 NA19068.hp1	a0176 a0176	a0176c0068 a0176c0068	a0176c0068t0001 a0176c0068t0001	a0176c0068t0001g0004 a0176c0068t0001g0004	1	359	0.0028	105	c.451 others(112): Show c.451_452insTTCAAAGTCCTTTTGAGGGTTTTCCCCAGTCTGTTCTC CAGATTCCTGTGAGCGCCGCCTCCTCCTCCACTTTAGTGAGTATTTTCCA GAGTTCCCCTGAGAGTA	p.Ser others(118): Show p.Ser150_Thr151insIleGlnSerProPheGluGlyPheProGlnSe rValLeuGlnIleProValSerAlaAlaSerSerSerThrLeuValSerI lePheGlnSerSerProGluSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	738/4256	452/3429	151/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141905881	C C	CCAGTCTC others(98): Show CCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTAT TGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGT TTTGCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03540.hp1 HG03540.hp1	a0129 a0129	a0129c0074 a0129c0074	a0129c0074t0001 a0129c0074t0001	a0129c0074t0001g0001 a0129c0074t0001g0001	1	359	0.0028	105	c.483 others(112): Show c.483_484insCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCAC TTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTG AGGGTTTTGCACAGTCT	p.Ser others(118): Show p.Ser161_Val162insProLeuGlnIleProValSerArgSerPheSe rSerThrLeuLeuSerIlePheGlnSerSerProGluArgSerGlnArgT hrSerGluGlyPheAlaGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	770/4256	484/3429	162/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906041	A A	ATTTTCCA others(98): Show ATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGC ACAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTAC TGAGTC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp1 HG00408.hp2 HG00438.hp1 others(35): Show HG00280.hp1 HG00408.hp2 HG00438.hp1 HG00609.hp1 HG01123.hp2 HG01257.hp2 HG01258.hp1 HG01358.hp1 HG01496.hp2 HG01981.hp2 HG02132.hp1 HG02155.hp2 HG02258.hp1 HG02683.hp2 HG02698.hp1 HG02895.hp1 HG02965.hp1 HG02970.hp1 HG03516.hp2 HG03579.hp1 HG03704.hp2 HG03834.hp2 NA18939.hp1 NA18942.hp2 NA18943.hp1 NA18949.hp1 NA18952.hp1 NA18964.hp2 NA18975.hp2 NA18978.hp1 NA18979.hp1 NA18989.hp1 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA19005.hp1 NA19064.hp2 NA19090.hp1	a0004 a0007 a0008 others(17): Show a0004 a0007 a0008 a0013 a0014 a0016 a0029 a0030 a0040 a0041 a0049 a0052 a0055 a0058 a0060 a0063 a0094 a0098 a0115 a0135	a0004c0004 a0007c0007 a0008c0009 others(19): Show a0004c0004 a0007c0007 a0008c0009 a0008c0189 a0013c0026 a0013c0153 a0014c0024 a0016c0019 a0029c0023 a0030c0152 a0040c0059 a0041c0050 a0049c0057 a0052c0054 a0055c0056 a0058c0051 a0060c0061 a0063c0190 a0094c0118 a0098c0070 a0115c0151 a0135c0161	a0004c0004t0001 a0007c0007t0001 a0008c0009t0001 others(19): Show a0004c0004t0001 a0007c0007t0001 a0008c0009t0001 a0008c0189t0001 a0013c0026t0002 a0013c0153t0002 a0014c0024t0001 a0016c0019t0001 a0029c0023t0001 a0030c0152t0001 a0040c0059t0001 a0041c0050t0002 a0049c0057t0001 a0052c0054t0001 a0055c0056t0001 a0058c0051t0001 a0060c0061t0001 a0063c0190t0001 a0094c0118t0001 a0098c0070t0001 a0115c0151t0002 a0135c0161t0002	a0004c0004t0001g0001 a0007c0007t0001g0003 a0008c0009t0001g0003 others(20): Show a0004c0004t0001g0001 a0007c0007t0001g0003 a0008c0009t0001g0003 a0008c0189t0001g0003 a0013c0026t0002g0002 a0013c0153t0002g0002 a0014c0024t0001g0001 a0016c0019t0001g0001 a0029c0023t0001g0003 a0030c0152t0001g0001 a0040c0059t0001g0003 a0041c0050t0002g0006 a0049c0057t0001g0003 a0052c0054t0001g0001 a0055c0056t0001g0001 a0055c0056t0001g0003 a0058c0051t0001g0002 a0060c0061t0001g0003 a0063c0190t0001g0003 a0094c0118t0001g0001 a0098c0070t0001g0007 a0115c0151t0002g0002 a0135c0161t0002g0002	38	359	0.1059	105	c.661 others(112): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCACAGTCTCCTCTC CAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCA GAGTTCCCCTGAGAGAA	p.Arg others(118): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerSerSerSerSerSerThrLeuLeuSerL euPheGlnSerSerProGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906056	C C	CCTGAGAG others(98): Show CCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCACAGTCTCCTCTCCA GATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGA GTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19058.hp1 NA19058.hp1	a0002 a0002	a0002c0085 a0002c0085	a0002c0085t0001 a0002c0085t0001	a0002c0085t0001g0001 a0002c0085t0001g0001	1	359	0.0028	105	c.686 others(112): Show c.686_687insACAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTTCT CCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGT ACTTTTGAGGGTTTTGC	p.Ala others(118): Show p.Ala229_Gln230insGlnSerProLeuGlnIleProValSerProSe rPheSerSerThrLeuLeuSerLeuPheGlnSerPheSerGluArgThrG lnSerThrPheGluGlyPheAla	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	973/4256	687/3429	229/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906056	C C	CCTGAGAG others(98): Show CCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCA GATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGA GTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00323.hp2 HG00673.hp1 others(15): Show HG00099.hp2 HG00323.hp2 HG00673.hp1 HG00735.hp1 HG00741.hp2 HG01192.hp1 HG02071.hp1 HG03942.hp1 NA18944.hp1 NA18946.hp1 NA18951.hp1 NA18951.hp2 NA19003.hp2 NA19010.hp2 NA19062.hp1 NA19070.hp1 NA19075.hp1 NA19083.hp1	a0002 a0057 a0062 others(1): Show a0002 a0057 a0062 a0168	a0002c0003 a0002c0093 a0057c0038 others(2): Show a0002c0003 a0002c0093 a0057c0038 a0062c0187 a0168c0094	a0002c0003t0001 a0002c0003t0003 a0002c0093t0001 others(3): Show a0002c0003t0001 a0002c0003t0003 a0002c0093t0001 a0057c0038t0001 a0062c0187t0001 a0168c0094t0001	a0002c0003t0001g0001 a0002c0003t0003g0005 a0002c0093t0001g0001 others(3): Show a0002c0003t0001g0001 a0002c0003t0003g0005 a0002c0093t0001g0001 a0057c0038t0001g0002 a0062c0187t0001g0003 a0168c0094t0001g0001	18	359	0.0501	105	c.721 others(112): Show c.721_722insTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCT GAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGAT TCCTGTGAGCCCCTCCT	p.Ser others(118): Show p.Ser240_Ser241insPheSerSerThrLeuLeuSerLeuPheGlnSe rPheSerGluArgThrGlnSerThrPheGluGlyPheAlaGlnSerProL euGlnIleProValSerProSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1008/4256	722/3429	241/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906056	C C	CCTGAGAG others(98): Show CCTGAGAGAAGTCAGAGAACTTCTGAGGGTTTTGCCCAGTCTCCTCTCCA GATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGA GTTTCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02280.hp1 HG02622.hp2 HG02976.hp2 HG02280.hp1 HG02622.hp2 HG02976.hp2	a0044 a0118 a0044 a0118	a0044c0055 a0118c0177 a0044c0055 a0118c0177	a0044c0055t0001 a0118c0177t0001 a0044c0055t0001 a0118c0177t0001	a0044c0055t0001g0003 a0118c0177t0001g0003 a0044c0055t0001g0003 a0118c0177t0001g0003	3	359	0.0084	105	c.661 others(112): Show c.661_662insGTCAGAGAACTTCTGAGGGTTTTGCCCAGTCTCCTCTC CAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCA GAGTTTCTCTGAGAGAA	p.Arg others(118): Show p.Arg220_Thr221insSerGlnArgThrSerGluGlyPheAlaGlnSe rProLeuGlnIleProValSerProSerPheSerSerThrLeuLeuSerL euPheGlnSerPheSerGluArg	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	948/4256	662/3429	221/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906089	G G	GCCCAGTC others(98): Show GCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCGTCCTCCACTTT ACTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGG GTTTTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18522.hp1 NA18522.hp1	a0137 a0137	a0137c0101 a0137c0101	a0137c0101t0001 a0137c0101t0001	a0137c0101t0001g0001 a0137c0101t0001g0001	1	359	0.0028	105	c.714 others(112): Show c.714_715insTCCTCCTCGTCCTCCACTTTACTGAGTCTTTTCCAGAG TTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTC TCCAGATTCCTGTGAGC	p.Ser others(118): Show p.Ser238_Pro239insSerSerSerSerSerThrLeuLeuSerLeuPh eGlnSerSerProGluArgThrGlnSerThrPheGluGlyPheProGlnS erProLeuGlnIleProValSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1001/4256	715/3429	239/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906098	C C	CCTCTCCA others(98): Show CCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCT TTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCC AGTCTT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18957.hp1 NA18957.hp1	a0147 a0147	a0147c0087 a0147c0087	a0147c0087t0001 a0147c0087t0001	a0147c0087t0001g0002 a0147c0087t0001g0002	1	359	0.0028	105	c.722 others(112): Show c.722_826dupCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCT GAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGAT TCCTGTGAGCCCCTCCT	p.Ser others(13): Show p.Ser241_Ser275dup	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1113/4256	827/3429	276/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906100	T T	TCTCCAGA others(98): Show TCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTT TCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAG TCTCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19001.hp2 NA19001.hp2	a0166 a0166	a0166c0092 a0166c0092	a0166c0092t0001 a0166c0092t0001	a0166c0092t0001g0001 a0166c0092t0001g0001	1	359	0.0028	105	c.721 others(112): Show c.721_722insTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCT GAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCACTCCAGAT TCCTGTGAGCCCCTCCT	p.Ser others(118): Show p.Ser240_Ser241insPheSerSerThrLeuLeuSerLeuPheGlnSe rPheSerGluArgThrGlnSerThrPheGluGlyPheAlaGlnSerProL euGlnIleProValSerProSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1008/4256	722/3429	241/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906140	C C	CTGAGTCT others(98): Show CTGAGTCTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTCCCCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCA CTTTAT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00558.hp1 HG00558.hp1	a0068 a0068	a0068c0174 a0068c0174	a0068c0174t0001 a0068c0174t0001	a0068c0174t0001g0001 a0068c0174t0001g0001	1	359	0.0028	105	c.754 others(112): Show c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATT GAGTCTTTTCCAGAGTT	p.Ser others(118): Show p.Ser251_Phe252insSerProGluArgThrGlnSerThrPheGluGl yPheProGlnSerProLeuGlnIleProValSerArgSerPheSerSerT hrLeuLeuSerLeuPheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1041/4256	755/3429	252/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906146	C C	CTTTTCCA others(98): Show CTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCC CCAGTCTCCACTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAT TGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01256.hp1 HG01361.hp1 HG01256.hp1 HG01361.hp1	a0039 a0039	a0039c0041 a0039c0041	a0039c0041t0001 a0039c0041t0001	a0039c0041t0001g0001 a0039c0041t0001g0001	2	359	0.0056	105	c.754 others(112): Show c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAGTCTCCACTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTATT GAGTATTTTCCAGAGTT	p.Ser others(118): Show p.Ser251_Phe252insSerProGluArgThrGlnSerThrPheGluGl yPheProGlnSerProLeuGlnIleProValSerProSerPheSerSerT hrLeuLeuSerIlePheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1041/4256	755/3429	252/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906146	C C	CTTTTCCA others(98): Show CTTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCC CCAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTAT TGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01257.hp1 HG01433.hp1 HG01891.hp2 others(32): Show HG01257.hp1 HG01433.hp1 HG01891.hp2 HG01993.hp2 HG02135.hp1 HG02273.hp2 HG02602.hp1 HG02630.hp1 HG02886.hp1 HG02897.hp2 HG02922.hp1 HG03130.hp1 HG03139.hp1 HG03239.hp2 HG03491.hp2 HG03492.hp1 HG03710.hp1 HG03927.hp1 NA18941.hp1 NA18945.hp1 NA18950.hp2 NA18965.hp1 NA18966.hp1 NA18978.hp2 NA18981.hp1 NA18981.hp2 NA18986.hp1 NA18988.hp1 NA18992.hp2 NA18994.hp1 NA19002.hp1 NA19002.hp2 NA19057.hp1 NA19066.hp1 NA19086.hp1	a0004 a0007 a0008 others(18): Show a0004 a0007 a0008 a0014 a0016 a0029 a0030 a0046 a0049 a0056 a0058 a0060 a0084 a0104 a0112 a0122 a0133 a0141 a0151 a0156 a0171	a0004c0004 a0007c0007 a0008c0009 others(19): Show a0004c0004 a0007c0007 a0008c0009 a0014c0024 a0014c0178 a0016c0019 a0029c0023 a0030c0053 a0046c0031 a0049c0057 a0056c0046 a0058c0051 a0060c0061 a0084c0164 a0104c0136 a0112c0180 a0122c0134 a0133c0157 a0141c0128 a0151c0147 a0156c0155 a0171c0188	a0004c0004t0001 a0007c0007t0001 a0008c0009t0001 others(19): Show a0004c0004t0001 a0007c0007t0001 a0008c0009t0001 a0014c0024t0001 a0014c0178t0001 a0016c0019t0001 a0029c0023t0001 a0030c0053t0001 a0046c0031t0001 a0049c0057t0001 a0056c0046t0001 a0058c0051t0001 a0060c0061t0001 a0084c0164t0001 a0104c0136t0001 a0112c0180t0001 a0122c0134t0001 a0133c0157t0002 a0141c0128t0001 a0151c0147t0001 a0156c0155t0001 a0171c0188t0001	a0004c0004t0001g0001 a0007c0007t0001g0003 a0008c0009t0001g0003 others(21): Show a0004c0004t0001g0001 a0007c0007t0001g0003 a0008c0009t0001g0003 a0014c0024t0001g0001 a0014c0024t0001g0003 a0014c0178t0001g0001 a0016c0019t0001g0001 a0029c0023t0001g0003 a0030c0053t0001g0001 a0046c0031t0001g0003 a0046c0031t0001g0011 a0049c0057t0001g0003 a0056c0046t0001g0001 a0058c0051t0001g0002 a0060c0061t0001g0003 a0084c0164t0001g0002 a0104c0136t0001g0001 a0112c0180t0001g0001 a0122c0134t0001g0002 a0133c0157t0002g0001 a0141c0128t0001g0001 a0151c0147t0001g0001 a0156c0155t0001g0001 a0171c0188t0001g0003	35	359	0.0975	105	c.754 others(112): Show c.754_755insCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTCCC CAGTCTCCACTCCAGATTCCTGTGAGCCGCTCCTTCTCCTCCACTTTATT GAGTATTTTCCAGAGTT	p.Ser others(118): Show p.Ser251_Phe252insSerProGluArgThrGlnSerThrPheGluGl yPheProGlnSerProLeuGlnIleProValSerArgSerPheSerSerT hrLeuLeuSerIlePheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1041/4256	755/3429	252/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906175	G G	GAGTACTT others(98): Show GAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGTGAGCC CCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGA ACTCAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18940.hp1 NA18940.hp1	a0139 a0139	a0139c0084 a0139c0084	a0139c0084t0001 a0139c0084t0001	a0139c0084t0001g0001 a0139c0084t0001g0001	1	359	0.0028	105	c.798 others(112): Show c.798_799insCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCAC TTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCACAGTACTTTTG AGGGTTTTGCCCAGTCT	p.Ser others(118): Show p.Ser266_Ser267insProLeuGlnIleProValSerProSerSerSe rSerThrLeuLeuSerLeuPheGlnSerPheSerGluArgThrHisSerT hrPheGluGlyPheAlaGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1085/4256	799/3429	267/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906232	C C	CTCCTCCA others(98): Show CTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGA GAACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCCGC TCCTCG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02723.hp1 HG02723.hp1	a0109 a0109	a0109c0169 a0109c0169	a0109c0169t0003 a0109c0169t0003	a0109c0169t0003g0005 a0109c0169t0003g0005	1	359	0.0028	105	c.840 others(112): Show c.840_841insTTGAGTATTTTCCAGAGTTCCCCTGAGAGAAGTCAGAG AACTTCTGAGGGTTTTGCACAGTCTCCTCTCCAGATTCCTGTGAGCCGCT CCTCGTCCTCCACTTTA	p.Leu others(118): Show p.Leu280_Val281insLeuSerIlePheGlnSerSerProGluArgSe rGlnArgThrSerGluGlyPheAlaGlnSerProLeuGlnIleProValS erArgSerSerSerSerThrLeu	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1127/4256	841/3429	281/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906245	G G	GTGAGTAT others(98): Show GTGAGTATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGG TTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCTCCTCCA CTTTAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp2 HG02559.hp2 HG03225.hp1 others(1): Show HG02109.hp2 HG02559.hp2 HG03225.hp1 NA19043.hp1	a0026 a0091 a0026 a0091	a0026c0030 a0091c0192 a0026c0030 a0091c0192	a0026c0030t0001 a0091c0192t0001 a0026c0030t0001 a0091c0192t0001	a0026c0030t0001g0002 a0091c0192t0001g0002 a0026c0030t0001g0002 a0091c0192t0001g0002	4	359	0.0111	105	c.846 others(112): Show c.846_847insATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTT TGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCTCCTCCTCCT CCTCCACTTTATTGAGT	p.Ser others(118): Show p.Ser282_Leu283insIlePheGlnSerSerProGluArgThrGlnSe rThrPheGluGlyPheProGlnSerProLeuGlnIleProValSerSerS erSerSerSerThrLeuLeuSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1133/4256	847/3429	283/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906266	C C	CCTGAGAG others(98): Show CCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCA GATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGA GTTTCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19065.hp2 NA19065.hp2	a0174 a0174	a0174c0109 a0174c0109	a0174c0109t0001 a0174c0109t0001	a0174c0109t0001g0001 a0174c0109t0001g0001	1	359	0.0028	105	c.894 others(112): Show c.894_895insGCCCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTC CTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGA GTACTTTTGAGGGTTTT	p.Phe others(118): Show p.Phe298_Pro299insAlaGlnSerProLeuGlnIleProValSerPr oSerSerSerSerThrLeuLeuSerLeuPheGlnSerPheSerGluArgT hrGlnSerThrPheGluGlyPhe	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1181/4256	895/3429	299/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906336	C C	CCTCCTCC others(98): Show CCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAG AGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC CTCCTT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18957.hp2 NA18957.hp2	a0148 a0148	a0148c0146 a0148c0146	a0148c0146t0001 a0148c0146t0001	a0148c0146t0001g0001 a0148c0146t0001g0001	1	359	0.0028	105	c.945 others(112): Show c.945_946insCTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAG TACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCT CCTTCTCCTCCACTTTA	p.Leu others(118): Show p.Leu316_Ser317insSerLeuPheGlnSerPheSerGluArgThrGl nSerThrPheGluGlyPheAlaGlnSerSerLeuGlnIleProValSerP roSerPheSerSerThrLeuLeu	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1232/4256	946/3429	316/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906356	C C	CTTTTCCA others(98): Show CTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGC CCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAG TGAGTA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03195.hp2 HG03195.hp2	a0123 a0123	a0123c0124 a0123c0124	a0123c0124t0003 a0123c0124t0003	a0123c0124t0003g0005 a0123c0124t0003g0005	1	359	0.0028	105	c.964 others(112): Show c.964_965insTCTCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGCC CAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCACTTTAGT GAGTATTTTCCAGAGTT	p.Ser others(118): Show p.Ser321_Ser322insPheSerGluArgThrGlnSerThrPheGluGl yPheAlaGlnSerSerLeuGlnIleProValSerProSerPheSerSerT hrLeuValSerIlePheGlnSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1251/4256	965/3429	322/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906490	A A	AAGTGCTT others(98): Show AAGTGCTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGGGAGCC CCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTCCCCTGAGAGA ACTCAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19077.hp2 NA19077.hp2	a0177 a0177	a0177c0103 a0177c0103	a0177c0103t0001 a0177c0103t0001	a0177c0103t0001g0001 a0177c0103t0001g0001	1	359	0.0028	105	c.108 others(114): Show c.1089_1090insGCTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATT CCTGGGAGCCCCTCCTTCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTC CCCTGAGAGAACTCACAGT	p.Ser others(118): Show p.Ser363_Thr364insAlaPheGluGlyPheProGlnSerProLeuGl nIleProGlySerProSerPheSerSerThrLeuLeuSerLeuPheGlnS erSerProGluArgThrHisSer	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1376/4256	1090/3429	364/1142		INFO_REALIGN_3_PRIME	chrX	TogoVar
MAN1A2_chr1_117362449_117533872	117429486	A A	ACCCCCCC others(98): Show ACCCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCAGGGGGGC TGACCCCCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGG GCCGAC	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0149 a0001c0001t0149	a0001c0001t0149g0240 a0001c0001t0149g0240	1	370	0.0027	105	c.855 others(122): Show c.855+8838_855+8839insCCCCCCCCACCTCCCTCCCAGACGGGGC GGCTGGCCGGGCAGGGGGGCTGACCCCCCCCCCACCTCCCTCCCGGACGG GGCGGCTGGCCGGGCGGGGGGCCGACC		MAN1A2	ENSG00000198162.12	transcript	ENST00000356554.7	protein_coding	5/12					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579135	C C	CCATCACC others(98): Show CCATCACCACCACCACCCTTCACCACCACCACCACCACCACCATCACCAC CACCACCCTTCACCACCATCACCACCACCACCACCACCATCACCACCACC ACCCTT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0313 a0001c0001t0001g0313	1	362	0.0028	105	c.391 others(120): Show c.391+639_391+640insTCACCACCACCACCCTTCACCACCACCACC ACCACCACCATCACCACCACCACCCTTCACCACCATCACCACCACCACCA CCACCATCACCACCACCACCCTTCA		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP3K15_chrX_19355059_19520508	19478003	G G	GGGGGAGG others(98): Show GGGGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGAGAGGGGG GAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGGAGAGGGGGGAG GGGGGA	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	163	0.0061	105	c.525 others(122): Show c.525+8478_525+8479insTCCCCCCTCCCCCCTCTCCCCCCTCCCC CCTCTCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCTCCCCCCTC TCCCCCTCCCCCCTCTCCCCCCTCCCC		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28						chrX	TogoVar
MAP4K4_chr2_101692707_101899690	101759670	C C	CCCCCTCC others(98): Show CCCCCTCCCCATTCCCCTCCCAACTCCGCTCCCCATTCCCCTCCACCTCC CCCTCCCCTCCCCAATTCCCCTCCACCTCCCCTCCCCATTCCCTCCCCCT CCCTTT	intron_variant intron_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0240 a0001c0001t0002g0240	1	310	0.0032	105	c.124 others(124): Show c.124-31030_124-31029insAACTCCGCTCCCCATTCCCCTCCACC TCCCCCTCCCCTCCCCAATTCCCCTCCACCTCCCCTCCCCATTCCCTCCC CCTCCCTTTCCCCTCCCCATTCCCCTCCC		MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	2/32					INFO_REALIGN_3_PRIME	chr2	TogoVar
MARCHF1_chr4_163519718_164389019	163894908	T T	TATATACA others(98): Show TATATACATGCATGTGATGCATATATACATGCATGTGATGCATATATACA TGCATGTGATGCATATATACATGCATGTGATGCATATATATACATGCATG TGATGC	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02523.hp1 HG03490.hp2 others(1): Show HG01496.hp2 HG02523.hp1 HG03490.hp2 NA18972.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 others(1): Show a0001c0001 a0001c0002 a0002c0003 a0002c0004	a0001c0001t0018 a0001c0002t0002 a0002c0003t0010 others(1): Show a0001c0001t0018 a0001c0002t0002 a0002c0003t0010 a0002c0004t0003	a0001c0001t0018g0079 a0001c0002t0002g0097 a0002c0003t0010g0058 others(1): Show a0001c0001t0018g0079 a0001c0002t0002g0097 a0002c0003t0010g0058 a0002c0004t0003g0081	4	102	0.0392	105	c.-38 others(124): Show c.-38-40740_-38-40739insGCATCACATGCATGTATATATATGCA TCACATGCATGTATATATGCATCACATGCATGTATATATGCATCACATGC ATGTATATATGCATCACATGCATGTATAT		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9						chr4	TogoVar
MARCHF1_chr4_163519718_164389019	163894908	T T	TATATATA others(98): Show TATATATATGCATGTGATGCATATATATATGCATGTGATGCATATATATA TGCATGTGATGCATATATATACATGCATGTGATGCATATATATATGCATG TGATGC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	102	0.0098	105	c.-38 others(124): Show c.-38-40740_-38-40739insGCATCACATGCATATATATATGCATC ACATGCATGTATATATATGCATCACATGCATATATATATGCATCACATGC ATATATATATGCATCACATGCATATATAT		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9						chr4	TogoVar
MAX_chr14_65070127_65107517	65097787	A A	ATTTTAAT others(98): Show ATTTTAATCAACCCAAAAATTATAACATAAAATAATAGGCAGGTAGGATG GGATAAACTCACCAAGCTCCCTAAGAGAAAGACATGGATTTCAATTTTCC AATACC	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0072 a0001c0001t0003g0072	1	382	0.0026	105	c.63+ others(120): Show c.63+3654_63+3758dupGGTATTGGAAAATTGAAATCCATGTCTTTC TCTTAGGGAGCTTGGTGAGTTTATCCCATCCTACCTGCCTATTATTTTAT GTTATAATTTTTGGGTTGATTAAAA		MAX	ENSG00000125952.21	transcript	ENST00000358664.9	protein_coding	2/4						chr14	TogoVar
MC5R_chr18_13819149_13832323	13823328	A A	ACCCACCC others(98): Show ACCCACCCACCCACCGACCCAACCAACTAACCAACCAAGAAACCACTCAC CCAACCACCCATCCACCCACCCACCGACCCAACCAACCAACCAACCACCC AACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0004 a0002c0003t0003g0004	1	432	0.0023	105	c.-98 others(114): Show c.-986_-985insCCCACCCACCCACCGACCCAACCAACTAACCAACCA AGAAACCACTCACCCAACCACCCATCCACCCACCCACCGACCCAACCAAC CAACCAACCACCCAACCAC		MC5R	ENSG00000176136.6	transcript	ENST00000589410.2	protein_coding					820		chr18	TogoVar
MC5R_chr18_13819149_13832323	13823328	A A	ACCCACCC others(98): Show ACCCACCCACCCACCGACCCAACCAACTAACCAACCAAGCAACCACCCAC CCAACCACCCATCCACCCACCCACCGACCCAACCAACCAACCAACCACCC AACCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00280.hp2 HG00323.hp2 others(122): Show HG00140.hp2 HG00280.hp2 HG00323.hp2 HG00408.hp1 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00673.hp2 HG00733.hp1 HG00741.hp2 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02015.hp1 HG02056.hp1 HG02056.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02698.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG03704.hp2 HG04199.hp1 HG04204.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18944.hp1 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18960.hp1 NA18963.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp2 NA18974.hp2 NA18975.hp1 NA18976.hp2 NA18977.hp1 NA18978.hp1 NA18982.hp1 NA18983.hp2 NA18984.hp2 NA18990.hp2 NA18995.hp1 NA18998.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19055.hp1 NA19058.hp1 NA19059.hp2 NA19060.hp1 NA19063.hp1 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19080.hp2 NA19083.hp1 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19089.hp2 NA19091.hp2 NA19240.hp2 NA20300.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0007 a0008	a0001c0001 a0002c0002 a0002c0003 others(4): Show a0001c0001 a0002c0002 a0002c0003 a0002c0014 a0005c0008 a0007c0013 a0008c0012	a0001c0001t0007 a0002c0002t0002 a0002c0002t0012 others(6): Show a0001c0001t0007 a0002c0002t0002 a0002c0002t0012 a0002c0003t0003 a0002c0003t0005 a0002c0014t0002 a0005c0008t0002 a0007c0013t0002 a0008c0012t0002	a0001c0001t0007g0018 a0001c0001t0007g0019 a0002c0002t0002g0002 others(11): Show a0001c0001t0007g0018 a0001c0001t0007g0019 a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0002t0012g0002 a0002c0003t0003g0004 a0002c0003t0003g0012 a0002c0003t0003g0017 a0002c0003t0003g0026 a0002c0003t0005g0009 a0002c0014t0002g0002 a0005c0008t0002g0002 a0007c0013t0002g0002 a0008c0012t0002g0002	125	432	0.2894	105	c.-98 others(114): Show c.-986_-985insCCCACCCACCCACCGACCCAACCAACTAACCAACCA AGCAACCACCCACCCAACCACCCATCCACCCACCCACCGACCCAACCAAC CAACCAACCACCCAACCAC		MC5R	ENSG00000176136.6	transcript	ENST00000589410.2	protein_coding					820		chr18	TogoVar

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