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
MID1_chrX_10440556_10625585	10465214	T T	TATATATA others(35): Show TATATATATATATATATATATATATATACATACATACACACAC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0164 a0001c0002t0009g0164	1	82	0.0122	42	c.128 others(61): Show c.1285+4482_1285+4483insGTGTGTGTATGTATGTATATATATAT ATATATATATATATAT	MID1	ENSG00000101871.18	transcript	ENST00000317552.9	protein_coding	7/9			chrX	TogoVar
MILR1_chr17_64444115_64473643	64472649	A A	AATTAGAA others(35): Show AATTAGAAAACATTAAAATACTTAAAATAAAAAAATAATACCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	392	0.0026	42	c.43 others(53): Show c.4368_*4369insATTAGAAAACATTAAAATACTTAAAATAAAAAAA TAATACCC	MILR1	ENSG00000271605.6	transcript	ENST00000619286.5	protein_coding		4007		chr17	TogoVar
MINAR1_chr15_79427336_79477304	79438506	G G	GTGTGGGT others(35): Show GTGTGGGTGGGATGGGTAGTAAGGGTGTGTGTAGGTAGTGAGT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18991.hp2 HG03195.hp1 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0042 a0001c0002t0001 a0001c0001t0042 a0001c0002t0001	a0001c0001t0042g0237 a0001c0002t0001g0238 a0001c0001t0042g0237 a0001c0002t0001g0238	2	388	0.0052	42	c.-51 others(59): Show c.-51+5966_-51+5967insTGTGGGTGGGATGGGTAGTAAGGGTGTG TGTAGGTAGTGAGT	MINAR1	ENSG00000169330.9	transcript	ENST00000305428.8	protein_coding	1/3			chr15	TogoVar
MINDY2_chr15_58766302_58866900	58831041	G G	GTGTGTGT others(35): Show GTGTGTGTATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0050 a0001c0002t0050	a0001c0002t0050g0102 a0001c0002t0050g0102	1	73	0.0137	42	c.122 others(59): Show c.1226-732_1226-731insGTGTGTATATATATATATATATATATAT ATATATATATATAT	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
MINDY2_chr15_58766302_58866900	58831041	G G	GTGTGTGT others(35): Show GTGTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0114 a0001c0002t0049g0114	1	73	0.0137	42	c.122 others(59): Show c.1226-732_1226-731insGTGTGTGTATATATATATATATATATAT ATATATATATATAT	MINDY2	ENSG00000128923.11	transcript	ENST00000559228.6	protein_coding	5/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
MIX23_chr3_122354591_122388231	122356134	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG04184.hp1 HG01175.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0021 a0001c0001t0010 a0001c0001t0021	a0001c0001t0010g0168 a0001c0001t0021g0171 a0001c0001t0010g0168 a0001c0001t0021g0171	2	128	0.0156	42	c.37 others(53): Show c.3734_*3735insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAA	MIX23	ENSG00000160124.9	transcript	ENST00000291458.9	protein_coding		3456		chr3	TogoVar
MLPH_chr2_237482251_237560322	237524302	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03491.hp1 HG03492.hp1 others(1): Show HG02647.hp1 HG03491.hp1 HG03492.hp1 NA19090.hp2	a0003 a0007 a0003 a0007	a0003c0003 a0007c0007 a0003c0003 a0007c0007	a0003c0003t0001 a0007c0007t0002 a0003c0003t0001 a0007c0007t0002	a0003c0003t0001g0239 a0007c0007t0002g0035 a0007c0007t0002g0226 others(1): Show a0003c0003t0001g0239 a0007c0007t0002g0035 a0007c0007t0002g0226 a0007c0007t0002g0227	4	186	0.0215	42	c.676 others(59): Show c.676-1280_676-1279insTATATATATATATATATATATATATATA TATATATATATATA	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MLXIP_chr12_122073756_122152344	122121010	G G	GTTTTTTT others(35): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04228.hp2 NA20129.hp1 HG04228.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0259 a0002c0002t0002g0279 a0002c0002t0002g0259 a0002c0002t0002g0279	2	61	0.0328	42	c.414 others(59): Show c.414-6228_414-6227insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	MLXIP	ENSG00000175727.15	transcript	ENST00000319080.12	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr12	TogoVar
MMD2_chr7_4900998_4964187	4945184	C C	CCTTCTTC others(35): Show CCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0176 a0001c0002t0005g0176	1	335	0.0030	42	c.47+ others(59): Show c.47+13786_47+13787insAAGAAGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAG	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
MMD2_chr7_4900998_4964187	4945185	T T	TTTCTTCT others(35): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0280 a0001c0001t0002g0280	1	17	0.0588	42	c.47+ others(59): Show c.47+13744_47+13785dupGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAA	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding	1/6			chr7	TogoVar
MMD2_chr7_4900998_4964187	4959851	G G	GGGTGGAG others(35): Show GGGTGGAGGAAGTGGGGGGTTCGTGGGAAGAAGGGGACCTGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18993.hp1 NA18993.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0050 a0001c0001t0002g0050	1	380	0.0026	42	c.-83 others(51): Show c.-835_-834insTCCAGGTCCCCTTCTTCCCACGAACCCCCCACTTCC TCCACC	MMD2	ENSG00000136297.15	transcript	ENST00000401401.8	protein_coding		665		chr7	TogoVar
MMEL1_chr1_2585639_2638016	2635031	C C	CCACACAG others(35): Show CCACACAGACCATCCCAACACCCACATAGACCATGCCCCCAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0025	1	342	0.0029	42	c.-22 others(53): Show c.-2204_-2203insTTTGGGGGCATGGTCTATGTGGGTGTTGGGATGG TCTGTGTG	MMEL1	ENSG00000142606.16	transcript	ENST00000378412.8	protein_coding		2016		chr1	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTATATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG04115.hp2 NA18747.hp1 others(3): Show HG03669.hp2 HG04115.hp2 NA18747.hp1 NA19066.hp1 NA19074.hp1 NA19088.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0013 others(2): Show a0001c0001t0001g0005 a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0088	6	338	0.0178	42	c.-36 others(53): Show c.-3640_-3639insTATATATATATATATATATATATATATATATACA CACACACA	MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding		3534		chr12	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTATATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG00673.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	333	0.0030	42	c.-36 others(53): Show c.-3640_-3639insTATATATATATATATATATATATATATATACACA CACACACA	MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding		3534		chr12	TogoVar
MMP19_chr12_55830433_55847936	55846469	G G	GTGTGTGT others(35): Show GTGTGTGTGTGTGTGTATATATATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19074.hp2 NA19074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	333	0.0030	42	c.-36 others(53): Show c.-3640_-3639insTATATATATATATATATATATATATATACACACA CACACACA	MMP19	ENSG00000123342.16	transcript	ENST00000322569.9	protein_coding		3534		chr12	TogoVar
MMP26_chr11_4699784_4997429	4734757	T T	TTTTATAT others(35): Show TTTTATATAAGCAGGGCATAGCAGAATAGCATCGCATAGCATA	intron_variant intron_variant	MODIFIER	NA19002.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	112	0.0089	42	c.-21 others(63): Show c.-217+29732_-217+29733insCAGAATAGCATCGCATAGCATATT TATATAAGCAGGGCATAG	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MMP2_chr16_55474198_55511691	55500494	T T	TACACACA others(35): Show TACACACACACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0335 a0001c0001t0001g0335	1	24	0.0417	42	c.176 others(61): Show c.1769+2050_1769+2091dupCACACACACACACACACACACACACA CACACACACACACACA	MMP2	ENSG00000087245.13	transcript	ENST00000219070.9	protein_coding	11/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(35): Show CACACACACACATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02015.hp2 HG02717.hp1 HG02015.hp2 HG02717.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0027 a0001c0002 a0002c0027	a0001c0002t0001 a0002c0027t0002 a0001c0002t0001 a0002c0027t0002	a0001c0002t0001g0034 a0002c0027t0002g0253 a0001c0002t0001g0034 a0002c0027t0002g0253	2	161	0.0124	42	c.54 others(53): Show c.5444_*5445insATATATATATATATATATATATATATATATATGT GTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(35): Show CACACACACATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0001 a0002c0001t0001g0001	1	160	0.0063	42	c.54 others(53): Show c.5444_*5445insATATATATATATATATATATATATATATATATAT GTGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACACA others(35): Show CACACACATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG02165.hp2 others(3): Show HG00597.hp1 HG00673.hp1 HG02165.hp2 HG04228.hp1 NA18950.hp2 NA19011.hp2	a0002 a0008 a0002 a0008	a0002c0001 a0002c0011 a0002c0016 others(1): Show a0002c0001 a0002c0011 a0002c0016 a0008c0009	a0002c0001t0001 a0002c0001t0002 a0002c0011t0001 others(2): Show a0002c0001t0001 a0002c0001t0002 a0002c0011t0001 a0002c0016t0001 a0008c0009t0001	a0002c0001t0001g0001 a0002c0001t0001g0006 a0002c0001t0002g0007 others(3): Show a0002c0001t0001g0001 a0002c0001t0001g0006 a0002c0001t0002g0007 a0002c0011t0001g0104 a0002c0016t0001g0070 a0008c0009t0001g0015	6	165	0.0364	42	c.54 others(53): Show c.5444_*5445insATATATATATATATATATATATATATATATATAT ATGTGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MMRN2_chr10_86930540_86962615	86931298	C C	CACACATA others(35): Show CACACATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01433.hp1 NA18990.hp2 HG01433.hp1 NA18990.hp2	a0001 a0002 a0001 a0002	a0001c0021 a0002c0001 a0001c0021 a0002c0001	a0001c0021t0001 a0002c0001t0001 a0001c0021t0001 a0002c0001t0001	a0001c0021t0001g0130 a0002c0001t0001g0001 a0001c0021t0001g0130 a0002c0001t0001g0001	2	161	0.0124	42	c.54 others(53): Show c.5444_*5445insATATATATATATATATATATATATATATATATAT ATATGTGT	MMRN2	ENSG00000173269.14	transcript	ENST00000372027.10	protein_coding		4241		chr10	TogoVar
MNS1_chr15_56423724_56470137	56460009	A A	AAAAAAAA others(35): Show AAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	168	0.0060	42	c.226 others(59): Show c.226-3489_226-3488insATATATATATATATATATATATATATAT ATTTTTTTTTTTTT	MNS1	ENSG00000138587.6	transcript	ENST00000260453.4	protein_coding	2/9			chr15	TogoVar
MOB3B_chr9_27320209_27534814	27357121	A A	AATATATA others(35): Show AATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0296 a0001c0001t0038g0296	1	197	0.0051	42	c.621 others(59): Show c.621+1912_621+1913insATATATATATATATATATATATATATAT ATATATATATATAT	MOB3B	ENSG00000120162.10	transcript	ENST00000262244.6	protein_coding	3/3			chr9	TogoVar
MON2_chr12_62461826_62605476	62534543	A A	ATATATAT others(35): Show ATATATATATATATTTTATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0142 a0002c0001t0001g0142	1	351	0.0028	42	c.163 others(59): Show c.1634-289_1634-288insTTTATATATATATATATATATATATATT TTATATATATATAT	MON2	ENSG00000061987.16	transcript	ENST00000393630.8	protein_coding	12/34		INFO_REALIGN_3_PRIME	chr12	TogoVar
MORC1_chr3_108953248_109123134	108996286	G G	GCGCGCGC others(35): Show GCGCGCGCGCGCACACACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0190 a0002c0006t0001g0190	1	98	0.0102	42	c.218 others(61): Show c.2187+4270_2187+4271insTGTGTGTGTGTGTGTGTGTGTGTGTG TGTGTGCGCGCGCGCG	MORC1	ENSG00000114487.10	transcript	ENST00000232603.10	protein_coding	21/27			chr3	TogoVar
MORN1_chr1_2316253_2396554	2393034	C C	CGGACGCC others(35): Show CGGACGCCAGGCAGAGGACTTCATCCCAGGCTTCAGTGCTCCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00323.hp2 HG00544.hp1 others(74): Show HG00323.hp1 HG00323.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG01070.hp1 HG01070.hp2 HG01081.hp1 HG01081.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp1 HG01346.hp2 HG01496.hp1 HG01496.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG02056.hp1 HG02056.hp2 HG02132.hp1 HG02132.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02723.hp1 HG02723.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03017.hp1 HG03017.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03579.hp1 HG03579.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18983.hp1 NA18983.hp2 NA19007.hp1 NA19007.hp2 NA19030.hp1 NA19030.hp2 NA19088.hp1 NA19088.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0005 a0002c0002 others(2): Show a0001c0001 a0001c0005 a0002c0002 a0003c0004 a0004c0003	a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0002 a0002c0002t0001 a0002c0002t0003 a0003c0004t0002 a0004c0003t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(74): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0066 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0011 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0031 a0001c0001t0002g0038 a0001c0001t0002g0040 a0001c0001t0002g0042 a0001c0001t0002g0047 a0001c0001t0002g0049 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0074 a0001c0001t0002g0075 a0001c0001t0002g0079 a0001c0005t0002g0073 a0002c0002t0001g0055 a0002c0002t0003g0039 a0003c0004t0002g0041 a0004c0003t0001g0058	77	78	0.9872	42	c.-15 others(53): Show c.-1502_-1501insAGGAGCACTGAAGCCTGGGATGAAGTCCTCTGCC TGGCGTCC	MORN1	ENSG00000116151.14	transcript	ENST00000378531.8	protein_coding		1481		chr1	TogoVar
MPDZ_chr9_13100707_13284692	13136325	C C	CTTTTTTT others(35): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02080.hp1 NA18962.hp2 NA18988.hp2 HG02080.hp1 NA18962.hp2 NA18988.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0008t0001 a0001c0008t0002 a0001c0002t0002 a0001c0008t0001 a0001c0008t0002	a0001c0002t0002g0096 a0001c0008t0001g0122 a0001c0008t0002g0118 a0001c0002t0002g0096 a0001c0008t0001g0122 a0001c0008t0002g0118	3	116	0.0259	42	c.429 others(59): Show c.4293-144_4293-143insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAA	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	30/46			chr9	TogoVar
MPDZ_chr9_13100707_13284692	13198737	C C	CTCTCTGT others(35): Show CTCTCTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18988.hp1 NA18988.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	159	0.0063	42	c.154 others(61): Show c.1547-2508_1547-2507insCACACACACACACACACACACACACA CACACACACACAGAGA	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	12/46			chr9	TogoVar
MPDZ_chr9_13100707_13284692	13279257	A A	ACCCCCAC others(35): Show ACCCCCACCCCCACCCCCGCCCCCACCCCCGCCCCCGCCCCCG	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0003 a0003	a0003c0040 a0003c0040	a0003c0040t0022 a0003c0040t0022	a0003c0040t0022g0125 a0003c0040t0022g0125	1	296	0.0034	42	c.-58 others(57): Show c.-58+142_-58+143insCGGGGGCGGGGGCGGGGGTGGGGGCGGGGG TGGGGGTGGGGG	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	1/46			chr9	TogoVar
MPDZ_chr9_13100707_13284692	13279299	A A	ACCCCCGC others(35): Show ACCCCCGCCCCCACCCCCACCCCCGCCCCCACCCCCACCCCCG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0269 a0001c0010t0002g0269	1	16	0.0625	42	c.-58 others(57): Show c.-58+100_-58+101insCGGGGGTGGGGGTGGGGGCGGGGGTGGGGG TGGGGGCGGGGG	MPDZ	ENSG00000107186.17	transcript	ENST00000319217.12	protein_coding	1/46			chr9	TogoVar
MPI_chr15_74885042_74907219	74894107	T T	TGTGTGTG others(35): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCTGAGCCAG	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	1	206	0.0049	42	c.670 others(57): Show c.670+788_670+789insTGTGTGTGTGTGTGTGTGTGTGTGTGTGTT TTCTGAGCCAGG	MPI	ENSG00000178802.18	transcript	ENST00000352410.9	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr15	TogoVar
MPPED1_chr22_43407014_43512848	43495914	G G	GTGGTGGT others(35): Show GTGGTGGTGGAGGTAGTGGTGGTGGAGGTAGTGGTGGTGGAGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	236	0.0042	42	c.633 others(59): Show c.633-2320_633-2319insGGTGGTGGAGGTAGTGGTGGTGGAGGTA GTGGTGGTGGAGAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496355	G G	GTGGAGGT others(35): Show GTGGAGGTGGTGGTGGTGGAGGTGGTGGTGGTGGAGGTGGTGA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0025 a0001c0002t0025	a0001c0002t0025g0083 a0001c0002t0025g0083	1	240	0.0042	42	c.633 others(59): Show c.633-1858_633-1857insGGTGGTGGTGGAGGTGGTGATGGAGGTG GTGGTGGTGGAGGT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496419	T T	TAGTGGTG others(35): Show TAGTGGTGGTGGAGGTAGTGGTGGTGGAGATGGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01515.hp2 HG01070.hp1 HG01515.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0111 a0001c0002t0002g0070 a0001c0002t0001g0111 a0001c0002t0002g0070	2	227	0.0088	42	c.633 others(59): Show c.633-1816_633-1815insAGTGGTGGTGGAGGTAGTGGTGGTGGAG ATGGTGGTGGTGGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496467	T T	TGGTGGTG others(35): Show TGGTGGTGGTGGTGGAGGTGATGGTGGAGGTAGTGGTGGTGGA	intron_variant intron_variant	MODIFIER	NA19005.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0222 a0001c0001t0029g0222	1	237	0.0042	42	c.633 others(59): Show c.633-1752_633-1751insGTGATGGTGGAGGTAGTGGTGGTGGAGG TGGTGGTGGTGGAG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496909	G G	GATGGTGG others(35): Show GATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGGTA	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG01943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0038 a0001c0001t0002g0038	1	216	0.0046	42	c.633 others(59): Show c.633-1326_633-1325insATGGTGGAGGTAGTGGTGGTGGAGGTGG TGGTGGTGGAGGTA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496924	G G	GATGGTGG others(35): Show GATGGTGGAGGTAGTGGTGGTGGAAGTGGTGGTGGTGGAGGTA	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0130 a0001c0001t0002g0130	1	190	0.0053	42	c.633 others(59): Show c.633-1311_633-1310insATGGTGGAGGTAGTGGTGGTGGAAGTGG TGGTGGTGGAGGTA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496924	G G	GATGGTGG others(35): Show GATGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGGTA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01496.hp1 HG00099.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0147 a0001c0001t0003g0148	2	191	0.0105	42	c.633 others(59): Show c.633-1311_633-1310insATGGTGGAGGTAGTGGTGGTGGAGGTGG TGGTGGTGGAGGTA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496966	G G	GGTGGTGG others(35): Show GGTGGTGGTGGAGGTGGTGGTGGTGGAGGTAGTGGTGGTGGAA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0162 a0001c0001t0009g0162	1	206	0.0049	42	c.633 others(59): Show c.633-1267_633-1266insGGTGGTGGAGGTGGTGGTGGTGGAGGTA GTGGTGGTGGAAGT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43496999	G G	GGTGGTGG others(35): Show GGTGGTGGAGGTAGTGGTGGTGGAGGTGGTGGTGGTGGAGGTA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	245	0.0041	42	c.633 others(59): Show c.633-1229_633-1228insAGGTAGTGGTGGTGGAGGTGGTGGTGGT GGAGGTAGTGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43497929	G G	GTATGTAT others(35): Show GTATGTATGTGTATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG03486.hp1 HG01243.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0243 a0001c0001t0006g0189 a0001c0001t0002g0243 a0001c0001t0006g0189	2	97	0.0206	42	c.633 others(57): Show c.633-303_633-302insGTATGTGTATATATATATATATATATATAT ATATATATATAT	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499678	T T	TGGTGGTG others(35): Show TGGTGGTGATGGTGGTGGTGGTGATGATGGTGGTGGTGATGGA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0246 a0001c0002t0005g0246	1	248	0.0040	42	c.748 others(59): Show c.748+1348_748+1349insTGATGATGGTGGTGGTGATGGAGGTGGT GATGGTGGTGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499765	C C	CGGTGGTG others(35): Show CGGTGGTGATGGTGGAGGTGGTGGTGGTGGTGATGGAGGTGGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	230	0.0043	42	c.748 others(59): Show c.748+1417_748+1458dupGTGGTGATGGTGGAGGTGGTGGTGGTGG TGATGGAGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499827	A A	ATGGTGAT others(35): Show ATGGTGATGGAGGTGGCGGTGGTGATGGTGGAGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00673.hp1 HG01069.hp2 others(17): Show HG00099.hp2 HG00673.hp1 HG01069.hp2 HG01074.hp1 HG01515.hp1 HG01517.hp2 HG01981.hp1 HG02109.hp2 HG02486.hp2 HG02572.hp1 HG02602.hp1 HG02647.hp2 HG02683.hp1 HG02809.hp1 HG03209.hp1 HG03654.hp1 NA18906.hp1 NA19005.hp2 NA19079.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0028 a0001c0003t0002 a0001c0003t0008	a0001c0001t0001g0118 a0001c0001t0001g0139 a0001c0001t0001g0144 others(17): Show a0001c0001t0001g0118 a0001c0001t0001g0139 a0001c0001t0001g0144 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0002t0001g0091 a0001c0002t0001g0108 a0001c0002t0001g0150 a0001c0002t0002g0088 a0001c0002t0002g0109 a0001c0002t0003g0076 a0001c0002t0003g0080 a0001c0002t0003g0183 a0001c0002t0028g0089 a0001c0003t0002g0169 a0001c0003t0008g0036 a0001c0003t0008g0195	20	235	0.0851	42	c.748 others(59): Show c.748+1492_748+1493insCGGTGGTGATGGTGGAGGTGGTGGTGGT GGTGATGGAGGTGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43499827	A A	ATGGTGAT others(35): Show ATGGTGATGGAGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0198 a0001c0003t0011g0198	1	216	0.0046	42	c.748 others(59): Show c.748+1495_748+1536dupGTGGTGATGGTGGAGGTGGTGGTGGTGG TGATGGAGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500024	G G	GATGGGGG others(35): Show GATGGGGGTGGTGGTGGTGATGGTGATGGAGGTGGTGGTGGTA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0077 a0001c0002t0003g0077	1	242	0.0041	42	c.748 others(59): Show c.748+1674_748+1675insATGGGGGTGGTGGTGGTGATGGTGATGG AGGTGGTGGTGGTA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6			chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500064	A A	ATGGTGAT others(35): Show ATGGTGATGGGGGTGGTGGTGGTGATGGTGGAGGTGGTGGTGG	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0082 a0001c0001t0006g0082	1	238	0.0042	42	c.748 others(59): Show c.748+1723_748+1724insGGGTGGTGGTGGTGATGGTGGAGGTGGT GGTGGTGGTGATGG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPPED1_chr22_43407014_43512848	43500074	A A	AGGTGGTG others(35): Show AGGTGGTGATGGGGGTGGTGGTGATGGGGGTGGTGATGGGGGT	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	219	0.0046	42	c.748 others(59): Show c.748+1731_748+1732insATGGGGGTGGTGGTGATGGGGGTGGTGA TGGGGGTGGTGGTG	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MPZ_chr1_161299735_161314968	161309552	A A	ATATATAT others(35): Show ATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01192.hp1 HG03834.hp2 HG00280.hp2 HG01192.hp1 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0007 a0001c0001t0014g0074 a0001c0001t0003g0007 a0001c0001t0014g0074	3	87	0.0345	42	c.67+ others(55): Show c.67+286_67+287insAAAAAAAAAAAAAAAAAAAAAAAAAATATATA TATATATATA	MPZ	ENSG00000158887.19	transcript	ENST00000533357.5	protein_coding	1/5			chr1	TogoVar
MRGPRG_chr11_3212944_3223813	3216860	T T	TTTCTTTC others(35): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTTTCCTTTCTGTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG00735.hp2 HG01109.hp1	a0002 a0002	a0002c0000 a0002c0000	a0002c0000t0000 a0002c0000t0000	a0002c0000t0000g0000 a0002c0000t0000g0000	2	420	0.0048	42	c.10 others(53): Show c.1083_*1084insGACAGAAAGGAAAAAGAAAGAAAGAAAGAAAGAA AGAAAGAA	MRGPRG	ENSG00000182170.3	transcript	ENST00000332314.3	protein_coding		1083		chr11	TogoVar

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