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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
MCF2L_chr13_112964214_113104742	113030365	T T	TGACGCAG others(23): Show TGACGCAGGTGTGGGCCCTCGGGTGTCCGCC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01243.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0011 a0003c0009t0011	a0003c0009t0011g0101 a0003c0009t0011g0101	1	116	0.0086	30	c.278 others(47): Show c.278+5615_278+5644dupGTGTGGGCCCTCGGGTGTCCGCCGACGC AG	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	3/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113056753	G G	GGGTGCTG others(23): Show GGGTGCTGTGTGTTTGGGTGCTGAGTATTTA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp1 HG02572.hp2 others(5): Show HG01243.hp1 HG01496.hp1 HG02572.hp2 HG02886.hp2 HG03098.hp1 HG03471.hp2 NA18946.hp1 NA19085.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0003 a0001c0005 others(2): Show a0001c0001 a0001c0003 a0001c0005 a0003c0009 a0005c0011	a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 others(5): Show a0001c0001t0014 a0001c0001t0022 a0001c0001t0023 a0001c0003t0001 a0001c0005t0025 a0001c0005t0032 a0003c0009t0011 a0005c0011t0002	a0001c0001t0014g0001 a0001c0001t0022g0104 a0001c0001t0023g0018 others(5): Show a0001c0001t0014g0001 a0001c0001t0022g0104 a0001c0001t0023g0018 a0001c0003t0001g0086 a0001c0005t0025g0016 a0001c0005t0032g0106 a0003c0009t0011g0101 a0005c0011t0002g0090	8	116	0.0690	30	c.370 others(47): Show c.370-3815_370-3814insATTTAGGTGCTGTGTGTTTGGGTGCTGA GT	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCF2L_chr13_112964214_113104742	113058969	C C	CTGAGTGT others(23): Show CTGAGTGTTTCAGCGCTGTTTGGGTGCTGAG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG00544.hp2 others(49): Show HG00323.hp1 HG00544.hp1 HG00544.hp2 HG01069.hp1 HG01069.hp2 HG01071.hp2 HG01168.hp2 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01978.hp1 HG01993.hp1 HG02074.hp1 HG02129.hp1 HG02145.hp2 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02886.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03471.hp2 HG03490.hp1 HG03492.hp1 HG03688.hp1 HG03834.hp1 HG04115.hp1 NA18522.hp2 NA18946.hp1 NA18946.hp2 NA18950.hp1 NA18950.hp2 NA19005.hp1 NA19005.hp2 NA19085.hp1 NA19240.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0012 a0001c0013 a0001c0015 a0001c0016 a0003c0009 a0005c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0018 a0001c0001t0019 a0001c0001t0022 a0001c0001t0023 a0001c0001t0028 a0001c0002t0001 a0001c0002t0003 a0001c0002t0027 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0004t0004 a0001c0004t0005 a0001c0005t0001 a0001c0005t0025 a0001c0005t0029 a0001c0005t0032 a0001c0006t0002 a0001c0006t0009 a0001c0012t0031 a0001c0013t0001 a0001c0015t0001 a0001c0016t0004 a0003c0009t0011 a0005c0011t0002	a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0022 others(49): Show a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0022 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0052 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0094 a0001c0001t0001g0113 a0001c0001t0002g0008 a0001c0001t0003g0099 a0001c0001t0005g0062 a0001c0001t0006g0010 a0001c0001t0006g0027 a0001c0001t0006g0056 a0001c0001t0006g0108 a0001c0001t0012g0055 a0001c0001t0014g0001 a0001c0001t0018g0077 a0001c0001t0019g0107 a0001c0001t0022g0104 a0001c0001t0023g0018 a0001c0001t0028g0098 a0001c0002t0001g0069 a0001c0002t0003g0014 a0001c0002t0003g0023 a0001c0002t0027g0065 a0001c0003t0001g0086 a0001c0003t0002g0047 a0001c0003t0002g0111 a0001c0004t0001g0102 a0001c0004t0004g0084 a0001c0004t0004g0097 a0001c0004t0005g0011 a0001c0004t0005g0012 a0001c0004t0005g0095 a0001c0005t0001g0020 a0001c0005t0025g0016 a0001c0005t0029g0091 a0001c0005t0032g0106 a0001c0006t0002g0029 a0001c0006t0002g0110 a0001c0006t0009g0028 a0001c0012t0031g0021 a0001c0013t0001g0067 a0001c0015t0001g0013 a0001c0016t0004g0085 a0003c0009t0011g0101 a0005c0011t0002g0090	52	116	0.4483	30	c.370 others(47): Show c.370-1622_370-1621insAGTGTTTCAGCGCTGTTTGGGTGCTGAG TG	MCF2L	ENSG00000126217.22	transcript	ENST00000535094.7	protein_coding	4/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
MCM6_chr2_135834626_135881443	135862259	T T	TTTTTATA others(23): Show TTTTTATACAAATAATAAAATTTGTATAAAA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01496.hp1 HG01943.hp2 others(12): Show HG00738.hp2 HG01496.hp1 HG01943.hp2 HG02074.hp1 HG03688.hp1 NA18956.hp2 NA18968.hp2 NA18992.hp1 NA18994.hp2 NA19000.hp1 NA19004.hp1 NA19007.hp2 NA19060.hp2 NA19074.hp1 NA19087.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0026 a0001c0001t0001 a0001c0001t0003 a0001c0001t0026	a0001c0001t0001g0055 a0001c0001t0003g0005 a0001c0001t0003g0202 others(5): Show a0001c0001t0001g0055 a0001c0001t0003g0005 a0001c0001t0003g0202 a0001c0001t0003g0215 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0235 a0001c0001t0026g0201	15	394	0.0381	30	c.122 others(47): Show c.1220+318_1220+347dupTTTTATACAAATTTTATTATTTGTATAA AA	MCM6	ENSG00000076003.5	transcript	ENST00000264156.3	protein_coding	8/16			chr2	TogoVar
MCMBP_chr10_119824440_119877843	119850872	C C	CTTTCTGT others(23): Show CTTTCTGTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0060 a0001c0001t0009g0060	1	400	0.0025	30	c.575 others(47): Show c.575-1297_575-1296insAAAAAAAAAAAAAAAAAAAAAAAACAGA AA	MCMBP	ENSG00000197771.13	transcript	ENST00000369077.4	protein_coding	6/15			chr10	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAAA others(23): Show GAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0041	1	414	0.0024	30	c.-41 others(41): Show c.-4194_-4193insAGAGAAAGAAAGAAAGAAAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAGA others(23): Show GAGAGAGAAAGAAAGAAAGAAAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0026	1	414	0.0024	30	c.-41 others(41): Show c.-4194_-4193insAGAGAGAAAGAAAGAAAGAAAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN1_chr19_7517624_7539009	7518557	G G	GAGAGAGA others(23): Show GAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	414	0.0024	30	c.-41 others(41): Show c.-4194_-4193insAGAGAGAGAAAGAAAGAAAGAAAGAAAGAA	MCOLN1	ENSG00000090674.16	transcript	ENST00000264079.11	protein_coding		4066		chr19	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTAT others(23): Show GTGTGTATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01993.hp1 HG04204.hp2 others(1): Show HG01081.hp1 HG01993.hp1 HG04204.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0023 a0001c0001t0002 a0001c0001t0004 a0001c0001t0023	a0001c0001t0002g0265 a0001c0001t0002g0284 a0001c0001t0004g0127 others(1): Show a0001c0001t0002g0265 a0001c0001t0002g0284 a0001c0001t0004g0127 a0001c0001t0023g0142	4	350	0.0114	30	c.42 others(41): Show c.4246_*4247insTATATATATATATATATATATATATACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84922438	G G	GTGTGTGT others(23): Show GTGTGTGTATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp1 HG03516.hp1 HG03516.hp2 HG02965.hp1 HG03516.hp1 HG03516.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0001c0001t0005 a0006c0005t0001 a0001c0001t0001 a0001c0001t0005 a0006c0005t0001	a0001c0001t0001g0054 a0001c0001t0005g0035 a0006c0005t0001g0043 a0001c0001t0001g0054 a0001c0001t0005g0035 a0006c0005t0001g0043	3	350	0.0086	30	c.42 others(41): Show c.4246_*4247insTATATATATATATATATATATATACACACA	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding		3144		chr1	TogoVar
MCOLN2_chr1_84920583_85002113	84987657	C C	CATATGTA others(23): Show CATATGTATATAGAAATATACATACATGTAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp2 HG01071.hp2 others(3): Show HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 NA19081.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0003g0010 others(2): Show a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0003g0010 a0001c0001t0003g0251 a0001c0001t0003g0252	6	350	0.0171	30	c.77+ others(45): Show c.77+9138_77+9139insATACATGTATGTATATTTCTATATACATAT	MCOLN2	ENSG00000153898.13	transcript	ENST00000370608.8	protein_coding	1/13			chr1	TogoVar
MCTP1_chr5_94698690_95290094	94752108	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0091 a0001c0001t0014g0091	1	98	0.0102	30	c.261 others(51): Show c.2610+26972_2610+27001dupATATATATATATATATATATATAT ATATAT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	19/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94910189	C C	CATACATA others(23): Show CATACATATATGTATATATACATATATGTGT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01255.hp1 HG01261.hp1 others(11): Show HG00099.hp2 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG02083.hp1 HG02165.hp1 HG02559.hp2 HG03098.hp2 HG03130.hp2 HG03486.hp2 HG03492.hp2 NA18522.hp2 NA18612.hp1 NA18948.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0009 a0001c0010 a0001c0011	a0001c0001t0002 a0001c0001t0003 a0001c0001t0039 others(7): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0039 a0001c0002t0001 a0001c0002t0008 a0001c0002t0036 a0001c0003t0026 a0001c0009t0018 a0001c0010t0002 a0001c0011t0003	a0001c0001t0002g0032 a0001c0001t0002g0052 a0001c0001t0002g0084 others(11): Show a0001c0001t0002g0032 a0001c0001t0002g0052 a0001c0001t0002g0084 a0001c0001t0003g0018 a0001c0001t0003g0078 a0001c0001t0003g0082 a0001c0001t0039g0029 a0001c0002t0001g0095 a0001c0002t0008g0066 a0001c0002t0036g0083 a0001c0003t0026g0051 a0001c0009t0018g0013 a0001c0010t0002g0098 a0001c0011t0003g0061	14	98	0.1429	30	c.152 others(47): Show c.1522-838_1522-809dupACACATATATGTATATATACATATATGT AT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	9/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94940571	T T	TATATACA others(23): Show TATATACATATATATGTATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG03704.hp1 NA18612.hp1 others(3): Show HG01255.hp1 HG03704.hp1 NA18612.hp1 NA18950.hp1 NA19009.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0009 others(1): Show a0001c0001 a0001c0002 a0001c0009 a0001c0016	a0001c0001t0003 a0001c0001t0017 a0001c0002t0001 others(3): Show a0001c0001t0003 a0001c0001t0017 a0001c0002t0001 a0001c0002t0012 a0001c0009t0018 a0001c0016t0023	a0001c0001t0003g0018 a0001c0001t0017g0001 a0001c0002t0001g0063 others(3): Show a0001c0001t0003g0018 a0001c0001t0017g0001 a0001c0002t0001g0063 a0001c0002t0012g0017 a0001c0009t0018g0013 a0001c0016t0023g0012	6	98	0.0612	30	c.106 others(47): Show c.1062-406_1062-377dupGTGTATATATATATACATATATATGTAT AT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	4/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94947555	A A	AATATATA others(23): Show AATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0071 a0001c0002t0012g0071	1	98	0.0102	30	c.982 others(47): Show c.982-5129_982-5128insATATATATATATATATATATATATATAT AT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	3/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94947577	T T	TATATATA others(23): Show TATATATATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0092 a0001c0003t0002g0092	1	98	0.0102	30	c.982 others(47): Show c.982-5151_982-5150insCTCTCTCTCTATATATATATATATATAT AT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	3/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94947577	T T	TATATATA others(23): Show TATATATATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0093 a0001c0002t0001g0093	1	98	0.0102	30	c.982 others(47): Show c.982-5151_982-5150insCTCTCTCTATATATATATATATATATAT AT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	3/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	94947577	T T	TATATATA others(23): Show TATATATATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0009 a0002c0008t0009	a0002c0008t0009g0008 a0002c0008t0009g0008	1	98	0.0102	30	c.982 others(47): Show c.982-5151_982-5150insCTATATATATATATATATATATATATAT AT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	3/22			chr5	TogoVar
MCTP1_chr5_94698690_95290094	95207961	G G	GAGAGAGG others(23): Show GAGAGAGGGAGAGAGAGGGAGAGAGAGAGAA	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18948.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0036 a0001c0002t0036	a0001c0002t0036g0083 a0001c0002t0036g0083	1	98	0.0102	30	c.720 others(49): Show c.720+75865_720+75894dupTTCTCTCTCTCTCCCTCTCTCTCCCT CTCT	MCTP1	ENSG00000175471.20	transcript	ENST00000515393.6	protein_coding	1/22			chr5	TogoVar
MCTP2_chr15_94226561_94488952	94243315	G G	GTGTACAT others(23): Show GTGTACATACGTATGCGTACATGCGTATGTA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0007 a0002c0004t0007	a0002c0004t0007g0007 a0002c0004t0007g0007	1	276	0.0036	30	c.-66 others(49): Show c.-66+11651_-66+11652insTGTACATACGTATGCGTACATGCGTA TGTA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22			chr15	TogoVar
MCTP2_chr15_94226561_94488952	94243317	G G	GTACATAC others(23): Show GTACATACGTATGCGTACATGCGTATGTACA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03490.hp2 HG03492.hp2 HG01099.hp1 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0013 a0001c0001t0001g0238 a0001c0001t0001g0239	3	276	0.0109	30	c.-66 others(49): Show c.-66+11669_-66+11670insCATGCGTATGTACATACATACGTATG CGTA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94243317	G G	GTACATAC others(23): Show GTACATACGTATGCGTATATGCGTATGTACA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01256.hp1 HG01258.hp1 others(14): Show HG01192.hp1 HG01256.hp1 HG01258.hp1 HG02145.hp1 HG02451.hp2 HG02647.hp2 HG02818.hp2 HG02922.hp1 HG02976.hp1 HG03098.hp2 NA18950.hp1 NA18982.hp1 NA18989.hp2 NA19003.hp2 NA19066.hp2 NA19081.hp2 NA20129.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0009 a0006c0024	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0002t0006 a0001c0002t0014 a0002c0003t0007 a0002c0003t0028 a0003c0009t0020 a0003c0009t0034 a0006c0024t0013	a0001c0001t0001g0127 a0001c0001t0002g0153 a0001c0001t0002g0154 others(14): Show a0001c0001t0001g0127 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0003g0106 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0112 a0001c0002t0004g0157 a0001c0002t0006g0191 a0001c0002t0014g0129 a0002c0003t0007g0146 a0002c0003t0007g0212 a0002c0003t0028g0173 a0003c0009t0020g0128 a0003c0009t0034g0102 a0006c0024t0013g0115	17	276	0.0616	30	c.-66 others(49): Show c.-66+11760_-66+11789dupTATGCGTATGTACATACATACGTATG CGTA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94243706	C C	CACATATA others(23): Show CACATATATGTATACACATACATATGCGTAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0159 a0001c0001t0054g0159	1	276	0.0036	30	c.-66 others(49): Show c.-66+12067_-66+12068insCGTATACATATATGTATACACATACA TATG	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	1/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94303064	A A	ATATATAT others(23): Show ATATATATATATAGTTTATATATATATAGTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01256.hp1 HG01257.hp2 others(16): Show HG00639.hp1 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01928.hp2 HG02145.hp1 HG02293.hp2 HG02615.hp1 HG02922.hp1 HG03579.hp2 NA18747.hp1 NA18947.hp2 NA18964.hp2 NA18966.hp1 NA18971.hp1 NA18973.hp1 NA18989.hp2 NA19066.hp2 NA19084.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0010 a0002c0003	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0032 a0001c0001t0040 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0006t0009 a0001c0010t0033 a0002c0003t0005 a0002c0003t0028	a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0158 others(16): Show a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0158 a0001c0001t0003g0166 a0001c0001t0004g0010 a0001c0001t0032g0081 a0001c0001t0040g0008 a0001c0002t0001g0003 a0001c0002t0001g0101 a0001c0002t0001g0215 a0001c0002t0001g0216 a0001c0002t0003g0064 a0001c0002t0003g0218 a0001c0002t0004g0157 a0001c0002t0004g0195 a0001c0006t0009g0057 a0001c0010t0033g0152 a0002c0003t0005g0192 a0002c0003t0028g0173	19	276	0.0688	30	c.465 others(47): Show c.465+4344_465+4345insTAGTTTATATATATATAGTTTATATATA TA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCTP2_chr15_94226561_94488952	94464257	T T	TTATATAT others(23): Show TTATATATATAATATATATATATATATATTA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0029 a0001c0002t0046g0029	1	276	0.0036	30	c.236 others(49): Show c.2360+6021_2360+6022insATATATATATATATATATTATATATA TATA	MCTP2	ENSG00000140563.16	transcript	ENST00000357742.10	protein_coding	20/22		INFO_REALIGN_3_PRIME	chr15	TogoVar
MCU_chr10_72687143_72892694	72780511	A A	AGTGTGTG others(23): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	210	0.0048	30	c.151 others(49): Show c.151-53837_151-53808dupGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCU_chr10_72687143_72892694	72805155	C C	CTTTCTTT others(23): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19007.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	210	0.0048	30	c.151 others(49): Show c.151-29199_151-29198insTTCTTTCTTTCTTTCTTTCTTTCTTT TTCT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MCU_chr10_72687143_72892694	72832932	C C	CTGTGTGT others(23): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03139.hp2 HG02647.hp2 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0011 a0001c0002t0001g0002 a0001c0002t0001g0011	2	210	0.0095	30	c.151 others(47): Show c.151-1426_151-1425insGTGTGTGTGTGTGTGTGTGTGTGTGTGT GT	MCU	ENSG00000156026.15	transcript	ENST00000373053.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
MDFI_chr6_41633468_41659244	41656192	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02647.hp2 HG02895.hp1 others(1): Show HG02622.hp1 HG02647.hp2 HG02895.hp1 NA19076.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0008 a0001c0001t0001 a0001c0001t0003 a0001c0001t0008	a0001c0001t0001g0235 a0001c0001t0003g0321 a0001c0001t0003g0322 others(1): Show a0001c0001t0001g0235 a0001c0001t0003g0321 a0001c0001t0003g0322 a0001c0001t0008g0031	4	462	0.0087	30	c.26 others(41): Show c.2617_*2618insCACACACACACACACACACACACACACACT	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding		1949		chr6	TogoVar
MDFI_chr6_41633468_41659244	41656194	A A	ACACACAC others(23): Show ACACACACACACACACACACACACACACACT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0030 a0001c0001t0002g0030	1	462	0.0022	30	c.26 others(41): Show c.2619_*2620insCACACACACACACACACACACACACACACT	MDFI	ENSG00000112559.15	transcript	ENST00000230321.11	protein_coding		1951		chr6	TogoVar
MDGA1_chr6_37625679_37702883	37701226	A A	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0055 a0001c0001t0013g0055	1	402	0.0025	30	c.-44 others(41): Show c.-4416_-4415insAAAAAAAAAATATATATATATATATATATA	MDGA1	ENSG00000112139.17	transcript	ENST00000434837.8	protein_coding		3344		chr6	TogoVar
MDGA2_chr14_46835092_47680605	47079727	A A	ATTTTTTT others(23): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0071 a0001c0001t0002g0071	1	120	0.0083	30	c.119 others(51): Show c.1195+17126_1195+17127insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	6/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47224283	T T	TGATATAG others(23): Show TGATATAGATATAGATATAGATATAGATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01167.hp1 HG01169.hp2 others(3): Show HG00323.hp2 HG01167.hp1 HG01169.hp2 HG01884.hp1 HG01978.hp1 HG02055.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0003c0003t0002	a0001c0001t0001g0065 a0001c0001t0002g0080 a0001c0001t0003g0076 others(3): Show a0001c0001t0001g0065 a0001c0001t0002g0080 a0001c0001t0003g0076 a0001c0001t0003g0078 a0001c0001t0006g0048 a0003c0003t0002g0036	6	120	0.0500	30	c.421 others(47): Show c.421-6118_421-6089dupTATATCTATATCTATATCTATATCTATA TC	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	2/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47278119	G G	GAATGATG others(23): Show GAATGATGAAGAGTCAAGATAAATAAATAAA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0120 a0001c0001t0029g0120	1	120	0.0083	30	c.420 others(49): Show c.420+23262_420+23291dupTTTATTTATTTATCTTGACTCTTCAT CATT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	2/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335732	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	120	0.0083	30	c.281 others(49): Show c.281-34183_281-34182insTATATATATATATATATATATATATA TATA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335745	T T	TATATATA others(23): Show TATATATATATATATATATATACATACATAC	intron_variant intron_variant	MODIFIER	NA20805.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0029 a0001c0001t0020g0029	1	120	0.0083	30	c.281 others(49): Show c.281-34196_281-34195insGTATGTATGTATATATATATATATAT ATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47335747	T T	TATATATA others(23): Show TATATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02698.hp2 HG03516.hp1 others(1): Show HG01071.hp1 HG02698.hp2 HG03516.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0063 a0001c0001t0002g0040 a0001c0001t0002g0075 others(1): Show a0001c0001t0001g0063 a0001c0001t0002g0040 a0001c0001t0002g0075 a0001c0001t0003g0049	4	120	0.0333	30	c.281 others(49): Show c.281-34198_281-34197insGTGTATATATATATATATATATATAT ATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47540540	G G	GTGTGTGT others(23): Show GTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0080 a0001c0001t0002g0080	1	120	0.0083	30	c.280 others(51): Show c.280+133976_280+133977insTATATATATATATATATATATACA CACACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47540540	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01978.hp1 NA18993.hp1 HG01978.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0065 a0001c0001t0008g0018 a0001c0001t0001g0065 a0001c0001t0008g0018	2	120	0.0167	30	c.280 others(51): Show c.280+133976_280+133977insTATATATATATATATATATACACA CACACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47540540	G G	GTGTGTGT others(23): Show GTGTGTGTGTGTGTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	120	0.0083	30	c.280 others(51): Show c.280+133976_280+133977insTATATATATATATATATACACACA CACACA	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDGA2_chr14_46835092_47680605	47609428	C C	CATATATA others(23): Show CATATATATATATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0019 a0001c0001t0012g0019	1	120	0.0083	30	c.280 others(49): Show c.280+65088_280+65089insATATATATATATATGTATATATATAT ATAT	MDGA2	ENSG00000139915.22	transcript	ENST00000399232.8	protein_coding	1/16			chr14	TogoVar
MDM2_chr12_68803177_68850544	68847196	T T	TTATATAT others(23): Show TTATATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00639.hp2 others(17): Show HG00280.hp1 HG00408.hp2 HG00639.hp2 HG01192.hp1 HG01496.hp2 HG01993.hp1 HG02148.hp2 HG02300.hp2 HG02622.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02976.hp1 HG03453.hp1 HG03490.hp1 HG03516.hp1 HG03579.hp2 NA19057.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 others(6): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0026 a0001c0001t0036 a0001c0001t0071 a0001c0002t0040 a0001c0003t0025	a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0255 others(17): Show a0001c0001t0001g0002 a0001c0001t0001g0013 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0259 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0293 a0001c0001t0001g0312 a0001c0001t0009g0025 a0001c0001t0009g0137 a0001c0001t0009g0141 a0001c0001t0009g0145 a0001c0001t0014g0201 a0001c0001t0016g0280 a0001c0001t0026g0025 a0001c0001t0036g0026 a0001c0001t0071g0148 a0001c0002t0040g0031 a0001c0003t0025g0135	20	388	0.0516	30	c.73 others(41): Show c.7347_*7348insTATATATATATATATATATATATATATATA	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1653		chr12	TogoVar
MDM2_chr12_68803177_68850544	68847210	A A	ATATATAT others(23): Show ATATATATATATATATATATATATATATATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03139.hp2 HG03225.hp2 HG03139.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0027 a0001c0001t0015g0160 a0001c0001t0015g0027 a0001c0001t0015g0160	2	388	0.0052	30	c.73 others(41): Show c.7361_*7362insTATATATATATATATATATATATATATATG	MDM2	ENSG00000135679.27	transcript	ENST00000258149.11	protein_coding		1667		chr12	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(23): Show ATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	290	0.0035	30	c.139 others(49): Show c.13956+748_13956+749insAAAAAAAAAAAATATATATATATATA TATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(23): Show ATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA18967.hp2 HG02074.hp1 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0209 a0001c0001t0001g0266 a0001c0001t0001g0209 a0001c0001t0001g0266	2	290	0.0069	30	c.139 others(49): Show c.13956+748_13956+749insAAAAAAAAAAAAAAAATATATATATA TATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89670170	A A	ATATATAT others(23): Show ATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0269 a0001c0001t0001g0269	1	290	0.0035	30	c.139 others(49): Show c.13956+748_13956+749insAAAAAAAAAAAAAAAAAATATATATA TATA	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	83/101			chr6	TogoVar
MDN1_chr6_89637498_89824794	89734690	C C	CGAGAGAG others(23): Show CGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0261 a0001c0001t0001g0261	1	290	0.0035	30	c.472 others(49): Show c.4724-1916_4724-1915insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	MDN1	ENSG00000112159.13	transcript	ENST00000369393.8	protein_coding	33/101			chr6	TogoVar
MDP1_chr14_24208943_24221066	24209213	A A	AAAGCTAC others(23): Show AAAGCTACTTGCTCCTTCCATTCCAAGTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0013	1	404	0.0025	30	c.48 others(41): Show c.4810_*4811insGCTACTTGGAATGGAAGGAGCAAGTAGCTT	MDP1	ENSG00000213920.9	transcript	ENST00000288087.12	protein_coding		4729		chr14	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01106.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	272	0.0037	30	c.363 others(47): Show c.363-5797_363-5796insTATATATATATATATATAGAGAGAGAGA GA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar
ME1_chr6_83205402_83436051	83357935	C C	CTCTCTCT others(23): Show CTCTCTCTCTCTCTCTCTCTCTATATATATA	intron_variant intron_variant	MODIFIER	NA18972.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0228 a0001c0001t0010g0228	1	272	0.0037	30	c.363 others(47): Show c.363-5797_363-5796insTATATATATAGAGAGAGAGAGAGAGAGA GA	ME1	ENSG00000065833.9	transcript	ENST00000369705.4	protein_coding	3/13			chr6	TogoVar

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