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
LYPLA1_chr8_54041367_54106947	54084133	A A	AAAAAAAA others(32): Show AAAAAAAAAAAAAAATTTTTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0029 a0001c0001t0002g0029	1	258	0.0039	39	c.101 others(58): Show c.101+16774_101+16775insATATATATATATATATATATAAAAAT TTTTTTTTTTTTT		LYPLA1	ENSG00000120992.18	transcript	ENST00000316963.8	protein_coding	2/8						chr8	TogoVar
LYSMD1_chr1_151154748_151170902	151160238	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03490.hp1 HG03492.hp1 NA18968.hp1 HG03490.hp1 HG03492.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0028 a0001c0001t0032g0028	3	37	0.0811	39	c.64 others(48): Show c.643_*644insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTT		LYSMD1	ENSG00000163155.12	transcript	ENST00000368908.10	protein_coding	3/3				643		chr1	TogoVar
LYST_chr1_235656041_235871906	235833165	G G	GTGAATAC others(32): Show GTGAATACTTATTCACCTCTTCCTAACAGAAATATTGAAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0156 a0001c0006t0001g0156	1	234	0.0043	39	c.-8+ others(52): Show c.-8+412_-8+413insATTCAATATTTCTGTTAGGAAGAGGTGAATAA GTATTCA		LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	2/52						chr1	TogoVar
M1AP_chr2_74552883_74653330	74561202	G G	GAGGAGGA others(32): Show GAGGAGGAGAAGGAGGAGGAGGAGAAGGAGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03225.hp1 HG06807.hp1 HG02257.hp2 HG03225.hp1 HG06807.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0004 a0002c0006t0001g0005 a0002c0006t0001g0006 a0002c0006t0001g0004 a0002c0006t0001g0005 a0002c0006t0001g0006	3	230	0.0130	39	c.128 others(56): Show c.1282-912_1282-911insTCTCCTCCTCCTCCTTCTCCTCCTCCTC CTTCTCCTCCT		M1AP	ENSG00000159374.18	transcript	ENST00000421985.2	protein_coding	8/10						chr2	TogoVar
M1AP_chr2_74552883_74653330	74561202	G G	GAGGAGGA others(32): Show GAGGAGGAGGAGAAGGAGGAGGAGAAGGAGGAGGAGGAGA	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0029 a0004c0004t0004g0029	1	228	0.0044	39	c.128 others(56): Show c.1282-912_1282-911insTCTCCTCCTCCTCCTTCTCCTCCTCCTT CTCCTCCTCCT		M1AP	ENSG00000159374.18	transcript	ENST00000421985.2	protein_coding	8/10						chr2	TogoVar
MACF1_chr1_39199695_39492138	39307901	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0184 a0002c0003t0002g0184	1	23	0.0435	39	c.279 others(58): Show c.2790-1648_2790-1647insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTT		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	23/100					INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39413578	A A	ACCTCCCC others(32): Show ACCTCCCCAGCTGCTGCAGTGCCCACCCCAGAGGAGCCCG	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02615.hp1 HG02717.hp2 others(5): Show HG00642.hp1 HG02615.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02965.hp2 NA19043.hp1 NA20300.hp1	a0005 a0033 a0034 a0005 a0033 a0034	a0005c0008 a0033c0072 a0034c0075 a0005c0008 a0033c0072 a0034c0075	a0005c0008t0001 a0005c0008t0005 a0005c0008t0007 others(2): Show a0005c0008t0001 a0005c0008t0005 a0005c0008t0007 a0033c0072t0001 a0034c0075t0001	a0005c0008t0001g0207 a0005c0008t0001g0210 a0005c0008t0005g0162 others(5): Show a0005c0008t0001g0207 a0005c0008t0001g0210 a0005c0008t0005g0162 a0005c0008t0005g0163 a0005c0008t0005g0164 a0005c0008t0007g0166 a0033c0072t0001g0209 a0034c0075t0001g0211	8	186	0.0430	39	c.158 others(60): Show c.15817-8719_15817-8681dupCGCCTCCCCAGCTGCTGCAGTGCC CACCCCAGAGGAGCC		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	58/100					INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39477094	C C	CACACATA others(32): Show CACACATATATACACTTAGTGTATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0003 a0004c0011t0003	a0004c0011t0003g0171 a0004c0011t0003g0171	1	137	0.0073	39	c.219 others(60): Show c.21959-2699_21959-2698insTATATACACTTAGTGTATATATAT ATATATATATACACA		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	97/100					INFO_REALIGN_3_PRIME	chr1	TogoVar
MACIR_chr5_103253763_103283660	103261655	T T	TTTCTTTC others(32): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0167 a0001c0001t0002g0167	1	358	0.0028	39	c.-11 others(58): Show c.-114+2762_-114+2800dupCTTTCTTTCTTTCTTTCTTTCTTTCT TTCTTTCTTTCTT		MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
MACROD1_chr11_63993558_64171113	64035711	C C	CCCGCCCC others(32): Show CCCGCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0110 a0001c0002t0001g0110	1	196	0.0051	39	c.518 others(58): Show c.518-20431_518-20430insAGGGGGAGGCAGCGGGCGGGGAGGAG GTGGCGGGGGCGG		MACROD1	ENSG00000133315.12	transcript	ENST00000255681.7	protein_coding	3/10						chr11	TogoVar
MACROD1_chr11_63993558_64171113	64035713	G G	GCCCCCCG others(32): Show GCCCCCCGCCACCTCCTCCCCGCCCGCTGCCTCCCCCTCC	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	192	0.0052	39	c.518 others(58): Show c.518-20433_518-20432insGGAGGGGGAGGCAGCGGGCGGGGAGG AGGTGGCGGGGGG		MACROD1	ENSG00000133315.12	transcript	ENST00000255681.7	protein_coding	3/10						chr11	TogoVar
MAGEA8_chrX_149876183_149890825	149881591	A A	AGGCATGG others(32): Show AGGCATGGCGGCCGGGCATGGCGGCCGGGCATGGCGGCCG	intron_variant intron_variant	MODIFIER	HG02896.hp2 NA18945.hp1 NA18960.hp1 HG02896.hp2 NA18945.hp1 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	3	110	0.0273	39	c.-12 others(56): Show c.-126+349_-126+387dupATGGCGGCCGGGCATGGCGGCCGGGCAT GGCGGCCGGGC		MAGEA8	ENSG00000156009.10	transcript	ENST00000286482.6	protein_coding	1/2					INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGI1_chr3_65348526_66043918	65759065	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	30	0.0333	39	c.314 others(60): Show c.314-136978_314-136977insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTT		MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	1/22						chr3	TogoVar
MAGI2_chr7_78012055_79458667	78234566	T T	TTTTCATA others(32): Show TTTTCATATTCATTATATTTCATATAATATAATGAATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0033 a0001c0001t0002g0033	1	16	0.0625	39	c.204 others(60): Show c.2047+21338_2047+21376dupTATATTCATTATATTATATGAAAT ATAATGAATATGAAA		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	10/21						chr7	TogoVar
MALRD1_chr10_19043801_19739478	19238468	A A	AATATATA others(32): Show AATATATAATGTATATTATATATAATATACAATGTATATT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0070 a0070	a0070c0043 a0070c0043	a0070c0043t0002 a0070c0043t0002	a0070c0043t0002g0148 a0070c0043t0002g0148	1	124	0.0081	39	c.299 others(60): Show c.2992-19207_2992-19206insGTATATTATATATAATATACAATG TATATTATATATAAT		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19315516	T T	TATATAAA others(32): Show TATATAAAAATATAAATATAATTTATATAAATATATAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG03579.hp2 HG02615.hp1 HG03579.hp2	a0017 a0051 a0017 a0051	a0017c0102 a0051c0055 a0017c0102 a0051c0055	a0017c0102t0002 a0051c0055t0001 a0017c0102t0002 a0051c0055t0001	a0017c0102t0002g0145 a0051c0055t0001g0108 a0017c0102t0002g0145 a0051c0055t0001g0108	2	150	0.0133	39	c.342 others(58): Show c.3420-8427_3420-8426insAAATATAAATATAATTTATATAAATA TATAAAAATATAA		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	21/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19355858	T T	TATATATA others(32): Show TATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0077 a0077	a0077c0083 a0077c0083	a0077c0083t0002 a0077c0083t0002	a0077c0083t0002g0074 a0077c0083t0002g0074	1	69	0.0145	39	c.444 others(58): Show c.4441+3561_4441+3562insATATATATATATATATATATATATAT ATATATATATATA		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	26/39						chr10	TogoVar
MAN1C1_chr1_25611791_25789450	25644518	A A	ATATATAT others(32): Show ATATATATATATATATATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0221 a0001c0002t0001g0221	1	58	0.0172	39	c.540 others(58): Show c.540+26182_540+26183insATATATATATATATATATATATATAT ATATATTTTTTTT		MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2B2_chr4_6570189_6628362	6579310	C C	CCACCACC others(32): Show CCACCACCATCACCACCACCACCACCACCACCACCACCAT	intron_variant intron_variant	MODIFIER	NA18983.hp2 NA18983.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0077 a0001c0003t0002g0077	1	318	0.0031	39	c.391 others(54): Show c.391+844_391+845insCCACCATCACCACCATCACCACCACCACCA CCACCACCA		MAN2B2	ENSG00000013288.9	transcript	ENST00000285599.8	protein_coding	3/18					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAP2K5_chr15_67537703_67812114	67590442	C C	CTCTCTCT others(32): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0220 a0001c0001t0009g0220	1	255	0.0039	39	c.432 others(56): Show c.432-2484_432-2483insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCT		MAP2K5	ENSG00000137764.20	transcript	ENST00000178640.10	protein_coding	6/21						chr15	TogoVar
MAP3K15_chrX_19355059_19520508	19477974	A A	AGAGAGGG others(32): Show AGAGAGGGAGGGAGGGATGGGGGGAGAGGGGGGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0122 a0002c0002t0003g0122	1	105	0.0095	39	c.525 others(56): Show c.525+8507_525+8508insCCTCTCTCCCCCCTCTCCCCCCATCCCT CCCTCCCTCTC		MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28						chrX	TogoVar
MAP3K15_chrX_19355059_19520508	19515127	T T	TGCCGCGC others(32): Show TGCCGCGCCCTCCGCCGCCCCGTCGGGCTCCGCCGGCCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19085.hp1 NA19085.hp1	a0015 a0015	a0015c0021 a0015c0021	a0015c0021t0004 a0015c0021t0004	a0015c0021t0004g0016 a0015c0021t0004g0016	1	161	0.0062	39	c.96_ others(45): Show c.96_134dupCGGGCCGGCGGAGCCCGACGGGGCGGCGGAGGGCGCGGC	p.Ala others(50): Show p.Ala45_Gly46insGlyProAlaGluProAspGlyAlaAlaGluGlyA laAla	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	1/29	381/4879	134/3942	45/1313			chrX	TogoVar
MAP3K19_chr2_134959491_135052447	134997817	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG03540.hp2 HG01192.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0244 a0001c0002t0001g0225 a0001c0001t0002g0244 a0001c0002t0001g0225	2	251	0.0080	39	c.574 others(54): Show c.574+920_574+921insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		MAP3K19	ENSG00000176601.14	transcript	ENST00000392915.7	protein_coding	8/12						chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(32): Show ATATATATATATATATATATATATTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0094 a0001c0004t0002g0094	1	6	0.1667	39	c.160 others(58): Show c.160-35376_160-35375insATATATATATATATATATATATTTTT TTTTTTTTTTTTT		MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K20_chr2_173070846_173273015	173134428	A A	ATATATAT others(32): Show ATATATATATATATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0006 a0006	a0006c0018 a0006c0018	a0006c0018t0011 a0006c0018t0011	a0006c0018t0011g0095 a0006c0018t0011g0095	1	6	0.1667	39	c.160 others(58): Show c.160-35376_160-35375insATATATATATATTTTTTTTTTTTTTT TTTTTTTTTTTTT		MAP3K20	ENSG00000091436.17	transcript	ENST00000375213.8	protein_coding	2/19					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP3K8_chr10_30429184_30466833	30432976	G G	GAGAGAGA others(32): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01074.hp2 HG03139.hp2 HG01074.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0082 a0001c0002t0001g0153 a0001c0001t0001g0082 a0001c0002t0001g0153	2	241	0.0083	39	c.-16 others(50): Show c.-1657_-1656insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGA		MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding					1207		chr10	TogoVar
MAP3K8_chr10_30429184_30466833	30432978	G G	GAGAGAGA others(32): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0179 a0001c0002t0001g0179	1	132	0.0076	39	c.-16 others(50): Show c.-1655_-1654insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG AGAGA		MAP3K8	ENSG00000107968.10	transcript	ENST00000263056.6	protein_coding					1205		chr10	TogoVar
MAP4K4_chr2_101692707_101899690	101792597	T T	TCTCCTCC others(32): Show TCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02615.hp2 HG01261.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0014 a0001c0001t0007 a0001c0001t0014	a0001c0001t0007g0179 a0001c0001t0014g0180 a0001c0001t0007g0179 a0001c0001t0014g0180	2	113	0.0177	39	c.180 others(56): Show c.180+1853_180+1854insCCTCCTCCTCCTCCTCCTCCTCCTCCTC CTCCTCCTCCT		MAP4K4	ENSG00000071054.17	transcript	ENST00000324219.9	protein_coding	3/32					INFO_REALIGN_3_PRIME	chr2	TogoVar
MAP4_chr3_47845695_48021416	47997326	T T	TAAAAAAA others(32): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0002 a0012c0012t0002	a0012c0012t0002g0078 a0012c0012t0002g0078	1	98	0.0102	39	c.223 others(56): Show c.223+1311_223+1312insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTT		MAP4	ENSG00000047849.22	transcript	ENST00000683076.1	protein_coding	2/20						chr3	TogoVar
MAP7_chr6_136337734_136555422	136456767	G G	GGAGGAGG others(32): Show GGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAGGAAGAA	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0003 a0002c0002t0003g0003	1	117	0.0085	39	c.68- others(56): Show c.68-34969_68-34968insTTCTTCCTCCTCCTCCTCCTCCTCCTCC TCCTCCTCCTC		MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17						chr6	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGA others(32): Show GAAGAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18949.hp2 NA19086.hp2 HG02109.hp1 NA18949.hp2 NA19086.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0002 a0010c0011 a0001c0001 a0002c0002 a0010c0011	a0001c0001t0001 a0002c0002t0003 a0010c0011t0001 a0001c0001t0001 a0002c0002t0003 a0010c0011t0001	a0001c0001t0001g0170 a0002c0002t0003g0009 a0010c0011t0001g0028 a0001c0001t0001g0170 a0002c0002t0003g0009 a0010c0011t0001g0028	3	116	0.0259	39	c.68- others(56): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCTTCCTTCTTC TTCTTCTTCTT		MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17						chr6	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGA others(32): Show GAAGAAGAAGAAGAAGGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	114	0.0088	39	c.68- others(56): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCTTCTTCCTTC TTCTTCTTCTT		MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17						chr6	TogoVar
MAP7_chr6_136337734_136555422	136456822	G G	GAAGAAGG others(32): Show GAAGAAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0030 a0002c0002t0003g0030	1	114	0.0088	39	c.68- others(56): Show c.68-35024_68-35023insTTCTTCTTCTTCTTCTTCTTCTTCTTCT TCTTCCTTCTT		MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	1/17						chr6	TogoVar
MAPK4_chr18_50555087_50736826	50677082	T T	TCTTGTCT others(32): Show TCTTGTCTGGCAAAAACTCAACAGAAACGACAATCTAACG	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0225 a0001c0003t0002g0225	1	300	0.0033	39	c.546 others(58): Show c.546+12578_546+12579insCTTGTCTGGCAAAAACTCAACAGAAA CGACAATCTAACG		MAPK4	ENSG00000141639.12	transcript	ENST00000400384.7	protein_coding	2/5						chr18	TogoVar
MAPK8_chr10_48301677_48444360	48413858	T T	TATATATA others(32): Show TATATATATATATATTCAATATATATATATATATATAACA	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG04115.hp2 HG02602.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0024 a0001c0001t0015 a0001c0001t0024	a0001c0001t0015g0121 a0001c0001t0024g0125 a0001c0001t0015g0121 a0001c0001t0024g0125	2	303	0.0066	39	c.450 others(56): Show c.450+3692_450+3693insATATATATATATTCAATATATATATATA TATATAACAAT		MAPK8	ENSG00000107643.17	transcript	ENST00000374189.6	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr10	TogoVar
MAPKBP1_chr15_41769484_41832855	41786777	A A	AAAAAAAA others(32): Show AAAAAAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0003 a0003c0004t0003	a0003c0004t0003g0061 a0003c0004t0003g0061	1	113	0.0088	39	c.114 others(58): Show c.114+11389_114+11390insAAAAAAATATATATATATATATATAT ATATATATATATA		MAPKBP1	ENSG00000137802.14	transcript	ENST00000457542.7	protein_coding	2/30					INFO_REALIGN_3_PRIME	chr15	TogoVar
MAPT_chr17_45889554_46033334	45903767	T T	TATATAAT others(32): Show TATATAATATATATTAAAATATAATATATATATTTATATA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0014 a0007c0008t0014	a0007c0008t0014g0191 a0007c0008t0014g0191	1	252	0.0040	39	c.-18 others(56): Show c.-18+9094_-18+9132dupTTAAAATATAATATATATATTTATATAA TATAATATATA		MAPT	ENSG00000186868.18	transcript	ENST00000262410.10	protein_coding	1/12					INFO_REALIGN_3_PRIME	chr17	TogoVar
MARCHF10_chr17_62696314_62813314	62723559	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	94	0.0106	39	c.210 others(56): Show c.2105-963_2105-962insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA		MARCHF10	ENSG00000173838.12	transcript	ENST00000311269.10	protein_coding	7/10						chr17	TogoVar
MARCHF1_chr4_163519718_164389019	163894574	C C	CATATATA others(32): Show CATATATATATGTGATGCATATATATATATGCATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0096 a0001c0002t0003g0096	1	100	0.0100	39	c.-38 others(58): Show c.-38-40406_-38-40405insATATATATGCATATATATATATGCAT CACATATATATAT		MARCHF1	ENSG00000145416.14	transcript	ENST00000514618.6	protein_coding	3/9						chr4	TogoVar
MARCHF3_chr5_126862714_127035558	126866880	C C	CAAAAAAA others(32): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0191 a0001c0001t0006g0191	1	44	0.0227	39	c.37 others(50): Show c.3752_*3753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		MARCHF3	ENSG00000173926.6	transcript	ENST00000308660.6	protein_coding					833		chr5	TogoVar
MAST2_chr1_45798612_46041122	45883912	G G	GCCTCCCC others(32): Show GCCTCCCCCCCCCCCCCCCCCCCCCCCCCCCACCCCCCCC	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	2	0.5000	39	c.500 others(56): Show c.500+1519_500+1520insTCCCCCCCCCCCCCCCCCCCCCCCCCCC ACCCCCCCCCC		MAST2	ENSG00000086015.23	transcript	ENST00000361297.7	protein_coding	4/28					INFO_REALIGN_3_PRIME	chr1	TogoVar
MATK_chr19_3772973_3791381	3788097	T T	TTTATATT others(32): Show TTTATATTATATTATATATATTATATTATTAATATTTATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18962.hp2 NA19088.hp1 NA18962.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	154	0.0130	39	c.-20 others(50): Show c.-2081_-2080insTATAAATATTAATAATATAATATATATAATATAA TATAA		MATK	ENSG00000007264.15	transcript	ENST00000310132.11	protein_coding					1717		chr19	TogoVar
MATN4_chr20_45288450_45313299	45305805	C C	CTTTTTTT others(32): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01243.hp2 HG03139.hp1 others(2): Show HG01070.hp1 HG01243.hp2 HG03139.hp1 HG03486.hp2 NA18906.hp1	a0004 a0006 a0004 a0006	a0004c0005 a0006c0007 a0004c0005 a0006c0007	a0004c0005t0002 a0006c0007t0001 a0004c0005t0002 a0006c0007t0001	a0004c0005t0002g0029 a0006c0007t0001g0049 a0004c0005t0002g0029 a0006c0007t0001g0049	5	12	0.4167	39	c.-34 others(54): Show c.-34-190_-34-189insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAA		MATN4	ENSG00000124159.17	transcript	ENST00000372756.6	protein_coding	1/9						chr20	TogoVar
MBD3L2_chr19_7044321_7056735	7054419	T T	TATATAAA others(32): Show TATATAAATTATATTATAATTTATAATATAATTATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG03041.hp1 HG02273.hp1 HG03041.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0008c0009 a0001c0001 a0008c0009	a0001c0001t0002 a0008c0009t0003 a0001c0001t0002 a0008c0009t0003	a0001c0001t0002g0001 a0008c0009t0003g0033 a0001c0001t0002g0001 a0008c0009t0003g0033	2	255	0.0078	39	c.27 others(50): Show c.2797_*2798insATATAAATTATATTATAATTTATAATATAATTAT ATAAC		MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding					2685		chr19	TogoVar
MBD3L2_chr19_7044321_7056735	7054439	T T	TTATAATA others(32): Show TTATAATATAATTAAATAACATATAAATTATATTATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp2 HG01891.hp1 HG03041.hp2 others(1): Show HG01109.hp2 HG01891.hp1 HG03041.hp2 HG03209.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0022 a0002c0004t0003g0041 a0002c0004t0003g0043 a0002c0004t0003g0022 a0002c0004t0003g0041 a0002c0004t0003g0043	4	254	0.0157	39	c.28 others(50): Show c.2817_*2818insTATAATATAATTAAATAACATATAAATTATATTA TAATA		MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding					2705		chr19	TogoVar
MBD3L2_chr19_7044321_7056735	7054439	T T	TTATAATA others(32): Show TTATAATATAATTATATAACATATAAATTATATTATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	2	252	0.0079	39	c.28 others(50): Show c.2817_*2818insTATAATATAATTATATAACATATAAATTATATTA TAATA		MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding					2705		chr19	TogoVar
MBD3L2_chr19_7044321_7056735	7054507	A A	ATATTATA others(32): Show ATATTATAATATATAATATAATTATATAACATATAAATTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01071.hp1 HG03195.hp2 HG01071.hp1 HG03195.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0006c0015 a0001c0001 a0006c0015	a0001c0001t0002 a0006c0015t0001 a0001c0001t0002 a0006c0015t0001	a0001c0001t0002g0001 a0006c0015t0001g0003 a0001c0001t0002g0001 a0006c0015t0001g0003	2	253	0.0079	39	c.28 others(50): Show c.2885_*2886insTATTATAATATATAATATAATTATATAACATATA AATTG		MBD3L2	ENSG00000230522.5	transcript	ENST00000381393.3	protein_coding					2773		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7054419	T T	TATATAAA others(32): Show TATATAAATTATATTATAATTTATAATATAATTATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp2 HG02273.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	286	0.0035	39	c.19 others(50): Show c.1902_*1903insGTTATATAATTATATTATAAATTATAATATAATT TATAT		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					1787		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7054439	T T	TTATAATA others(32): Show TTATAATATAATTAAATAACATATAAATTATATTATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG01891.hp1 HG03209.hp2 HG01109.hp1 HG01891.hp1 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	284	0.0106	39	c.18 others(50): Show c.1882_*1883insTATTATAATATAATTTATATGTTATTTAATTATA TTATA		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					1767		chr19	TogoVar
MBD3L3_chr19_7051207_7063676	7054439	T T	TTATAATA others(32): Show TTATAATATAATTATATAACATATAAATTATATTATAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01074.hp2 HG01168.hp1 HG01169.hp1 HG01074.hp2 HG01168.hp1 HG01169.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	284	0.0106	39	c.18 others(50): Show c.1882_*1883insTATTATAATATAATTTATATGTTATATAATTATA TTATA		MBD3L3	ENSG00000182315.10	transcript	ENST00000333843.9	protein_coding					1767		chr19	TogoVar

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