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
LRRIQ1_chr12_85031351_85250105	85192713	T T	TTATAAAT others(26): Show TTATAAATATATATAGTTATATACTATAATTATA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18973.hp2 NA19002.hp2 others(3): Show NA18968.hp2 NA18973.hp2 NA19002.hp2 NA19063.hp2 NA19065.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 others(3): Show a0001c0001t0002g0137 a0001c0001t0002g0138 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0002t0001g0022	6	190	0.0316	33	c.482 others(54): Show c.4822+32121_4822+32153dupCTATAATTATATATAAATATATAT AGTTATATA		LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	24/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRIQ1_chr12_85031351_85250105	85193080	A A	ATATATAA others(26): Show ATATATAATTATATATATTTATATATAATTATAG	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00738.hp1 HG01257.hp1 others(24): Show HG00558.hp1 HG00738.hp1 HG01257.hp1 HG01258.hp1 HG03017.hp1 HG03927.hp2 HG03942.hp2 NA18945.hp2 NA18978.hp2 NA18981.hp2 NA18983.hp2 NA18986.hp2 NA18991.hp2 NA18993.hp2 NA18999.hp2 NA19003.hp1 NA19004.hp1 NA19030.hp2 NA19043.hp2 NA19060.hp2 NA19063.hp1 NA19065.hp2 NA19077.hp2 NA19079.hp2 NA19084.hp1 NA20805.hp2 NA21309.hp1	a0001 a0011 a0015 others(1): Show a0001 a0011 a0015 a0016	a0001c0002 a0011c0021 a0015c0017 others(1): Show a0001c0002 a0011c0021 a0015c0017 a0016c0022	a0001c0002t0001 a0011c0021t0001 a0015c0017t0001 others(1): Show a0001c0002t0001 a0011c0021t0001 a0015c0017t0001 a0016c0022t0001	a0001c0002t0001g0002 a0001c0002t0001g0028 a0001c0002t0001g0029 others(23): Show a0001c0002t0001g0002 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0060 a0001c0002t0001g0066 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0083 a0001c0002t0001g0123 a0011c0021t0001g0075 a0015c0017t0001g0004 a0016c0022t0001g0081	27	223	0.1211	33	c.482 others(54): Show c.4822+32386_4822+32418dupATATATAATTATAGTATATAATTA TATATATTT		LRRIQ1	ENSG00000133640.20	transcript	ENST00000393217.7	protein_coding	24/26					INFO_REALIGN_3_PRIME	chr12	TogoVar
LRRK1_chr15_100914357_101083257	100962823	A A	ATATATAT others(26): Show ATATATATACATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0031 a0001c0008t0031	a0001c0008t0031g0324 a0001c0008t0031g0324	1	81	0.0123	33	c.98- others(50): Show c.98-10980_98-10979insATATATACATATATATATATATATATAT ATATT		LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33					INFO_REALIGN_3_PRIME	chr15	TogoVar
LRRK1_chr15_100914357_101083257	100962823	A A	ATATATAT others(26): Show ATATATATACATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0257 a0001c0010t0257	a0001c0010t0257g0121 a0001c0010t0257g0121	1	81	0.0123	33	c.98- others(50): Show c.98-10980_98-10979insATATATACATATATATATATATATATAT ATTTT		LRRK1	ENSG00000154237.13	transcript	ENST00000388948.8	protein_coding	2/33					INFO_REALIGN_3_PRIME	chr15	TogoVar
LRRN2_chr1_204612170_204690738	204631256	C C	CAATCTAA others(26): Show CAATCTAATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0116 a0001c0002t0002g0116	1	32	0.0313	33	c.-22 others(54): Show c.-226-11039_-226-11038insTATATATATATATATATATATATA TATTAGATT		LRRN2	ENSG00000170382.12	transcript	ENST00000367177.4	protein_coding	1/1						chr1	TogoVar
LRRTM3_chr10_66921036_67106551	66978552	A A	AAAAAAAA others(26): Show AAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18960.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0174 a0002c0002t0004g0174	1	47	0.0213	33	c.153 others(54): Show c.1536+50101_1536+50102insAAAAAAATATATATATATATATAT ATATATATA		LRRTM3	ENSG00000198739.11	transcript	ENST00000361320.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRTM3_chr10_66921036_67106551	66978552	A A	AAAAAAAT others(26): Show AAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0176 a0002c0002t0004g0176	1	47	0.0213	33	c.153 others(54): Show c.1536+50101_1536+50102insAAAAATATATATATATATATATAT ATATATATA		LRRTM3	ENSG00000198739.11	transcript	ENST00000361320.5	protein_coding	2/2					INFO_REALIGN_3_PRIME	chr10	TogoVar
LRRTM3_chr10_66921036_67106551	66978552	A A	ATAAAAAA others(26): Show ATAAAAAAAATAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0142 a0001c0001t0005g0142	1	47	0.0213	33	c.153 others(54): Show c.1536+50100_1536+50101insTAAAAAAAATAAAAAAAAAAAATA TATATATAT		LRRTM3	ENSG00000198739.11	transcript	ENST00000361320.5	protein_coding	2/2						chr10	TogoVar
LRSAM1_chr9_127446510_127508499	127447797	A A	AAAACTTC others(26): Show AAAACTTCCCAGCTTATCTCTGTGAATACACTGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0020	1	338	0.0030	33	c.-40 others(44): Show c.-4061_-4060insAAACTTCCCAGCTTATCTCTGTGAATACACTGG		LRSAM1	ENSG00000148356.15	transcript	ENST00000300417.11	protein_coding					3712		chr9	TogoVar
LSAMP_chr3_115797374_116450487	115818790	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0084 a0001c0002t0001g0084	1	17	0.0588	33	c.920 others(50): Show c.920-8377_920-8376insTATATATATATATATATATATATATATA TATAT		LSAMP	ENSG00000185565.13	transcript	ENST00000490035.7	protein_coding	6/6						chr3	TogoVar
LSM12_chr17_44029328_44071671	44055680	T T	TATATATA others(26): Show TATATATATAAAATATATATATATAATATATAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0156 a0001c0001t0006g0156	1	296	0.0034	33	c.258 others(50): Show c.258+8088_258+8120dupTTTATATATTATATATATATATTTTATA TATAT		LSM12	ENSG00000161654.10	transcript	ENST00000293406.8	protein_coding	2/4						chr17	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0175 a0003c0003t0001g0175	1	94	0.0106	33	c.29 others(44): Show c.2946_*2947insAAATATATATATATATATATATATATATATATA		LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding					642		chr21	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0008 a0001c0004t0007g0008	1	94	0.0106	33	c.29 others(44): Show c.2946_*2947insAAAAATATATATATATATATATATATATATATA		LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding					642		chr21	TogoVar
LTN1_chr21_28923144_28997877	28927501	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18942.hp1 NA19054.hp1 NA19081.hp1 NA18942.hp1 NA19054.hp1 NA19081.hp1	a0001 a0004 a0001 a0004	a0001c0004 a0004c0005 a0001c0004 a0004c0005	a0001c0004t0001 a0004c0005t0001 a0001c0004t0001 a0004c0005t0001	a0001c0004t0001g0002 a0004c0005t0001g0005 a0001c0004t0001g0002 a0004c0005t0001g0005	3	96	0.0313	33	c.29 others(44): Show c.2946_*2947insAAAAAAAAATATATATATATATATATATATATA		LTN1	ENSG00000198862.14	transcript	ENST00000361371.10	protein_coding					642		chr21	TogoVar
LURAP1L_chr9_12770020_12828060	12807094	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0184 a0001c0001t0001g0184	1	192	0.0052	33	c.313 others(52): Show c.313-14292_313-14291insTATATATATATATATATATATATATA TATATAT		LURAP1L	ENSG00000153714.6	transcript	ENST00000319264.4	protein_coding	1/1						chr9	TogoVar
LUZP2_chr11_24492053_25087638	24774491	A A	AAGAATAT others(26): Show AAGAATATATATAGAATATATTCTATATATATGT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0085 a0001c0001t0004g0085	1	111	0.0090	33	c.396 others(52): Show c.396+11196_396+11228dupGAATATATTCTATATATATGTAGAAT ATATATA		LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24774767	A A	AAGAATAT others(26): Show AAGAATATATATAGACTATATTCTATATATATGT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02280.hp2 HG02559.hp1 others(10): Show HG01891.hp1 HG02280.hp2 HG02559.hp1 HG02717.hp1 HG02717.hp2 HG02896.hp1 HG02896.hp2 HG03041.hp1 HG03098.hp1 HG03225.hp1 HG03453.hp1 HG03540.hp1 HG06807.hp2	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0003 a0002c0007 others(1): Show a0001c0001 a0001c0003 a0002c0007 a0005c0006	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(8): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0036 a0001c0003t0006 a0001c0003t0013 a0001c0003t0015 a0002c0007t0028 a0005c0006t0029	a0001c0001t0002g0025 a0001c0001t0003g0024 a0001c0001t0003g0031 others(10): Show a0001c0001t0002g0025 a0001c0001t0003g0024 a0001c0001t0003g0031 a0001c0001t0005g0006 a0001c0001t0005g0029 a0001c0001t0006g0086 a0001c0001t0007g0115 a0001c0001t0036g0110 a0001c0003t0006g0094 a0001c0003t0013g0046 a0001c0003t0015g0069 a0002c0007t0028g0068 a0005c0006t0029g0058	13	116	0.1121	33	c.396 others(52): Show c.396+11473_396+11474insCTATATTCTATATATATGTAGAATAT ATATAGA		LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	24830391	T T	TGATTCTC others(26): Show TGATTCTCCTAATATAAAATATTAGGAGAATCAG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01256.hp1 HG01258.hp1 others(17): Show HG01109.hp1 HG01256.hp1 HG01258.hp1 HG01891.hp2 HG02055.hp2 HG02145.hp2 HG02258.hp2 HG02559.hp2 HG02717.hp1 HG02896.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03579.hp2 NA18522.hp1 NA18522.hp2 NA19043.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0007	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(13): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0011 a0001c0001t0016 a0001c0001t0030 a0001c0001t0031 a0001c0003t0004 a0001c0003t0007 a0001c0003t0013 a0001c0003t0015 a0002c0002t0001 a0002c0002t0010 a0002c0002t0024 a0002c0007t0028	a0001c0001t0003g0031 a0001c0001t0003g0036 a0001c0001t0003g0095 others(17): Show a0001c0001t0003g0031 a0001c0001t0003g0036 a0001c0001t0003g0095 a0001c0001t0004g0078 a0001c0001t0005g0029 a0001c0001t0005g0030 a0001c0001t0006g0086 a0001c0001t0011g0037 a0001c0001t0016g0033 a0001c0001t0030g0108 a0001c0001t0031g0109 a0001c0003t0004g0004 a0001c0003t0004g0055 a0001c0003t0007g0077 a0001c0003t0013g0046 a0001c0003t0015g0091 a0002c0002t0001g0045 a0002c0002t0010g0005 a0002c0002t0024g0089 a0002c0007t0028g0068	20	116	0.1724	33	c.396 others(52): Show c.396+67084_396+67085insATTCTCCTAATATAAAATATTAGGAG AATCAGG		LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	5/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
LUZP2_chr11_24492053_25087638	25040343	A A	ATTTTTTT others(26): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0096 a0001c0003t0019g0096	1	2	0.5000	33	c.766 others(50): Show c.766-9675_766-9674insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		LUZP2	ENSG00000187398.12	transcript	ENST00000336930.11	protein_coding	9/11					INFO_REALIGN_3_PRIME	chr11	TogoVar
LYPD8_chr1_248734415_248760759	248742284	G G	GGGGAGAT others(26): Show GGGGAGATTATGCTCTGGTGGGGATGTTGGCAGC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	368	0.0027	33	c.476 others(50): Show c.476-2436_476-2435insGCTGCCAACATCCCCACCAGAGCATAAT CTCCC		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	6/6						chr1	TogoVar
LYSMD1_chr1_151154748_151170902	151160238	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01074.hp1 others(14): Show HG00280.hp2 HG00639.hp2 HG01074.hp1 HG01099.hp2 HG01257.hp2 HG01516.hp1 HG02083.hp1 HG03017.hp1 HG03834.hp1 HG04115.hp2 NA18747.hp1 NA18944.hp2 NA18952.hp1 NA18979.hp1 NA18980.hp1 NA18980.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0039 a0001c0001t0047 a0001c0001t0008 a0001c0001t0039 a0001c0001t0047	a0001c0001t0008g0003 a0001c0001t0039g0043 a0001c0001t0047g0063 a0001c0001t0008g0003 a0001c0001t0039g0043 a0001c0001t0047g0063	17	51	0.3333	33	c.64 others(42): Show c.643_*644insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		LYSMD1	ENSG00000163155.12	transcript	ENST00000368908.10	protein_coding	3/3				643		chr1	TogoVar
MACIR_chr5_103253763_103283660	103261654	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0212 a0001c0001t0015g0212	1	335	0.0030	33	c.-11 others(52): Show c.-114+2761_-114+2793dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT		MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261662	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0225 a0001c0001t0002g0225	1	346	0.0029	33	c.-11 others(52): Show c.-114+2769_-114+2801dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT		MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
MACIR_chr5_103253763_103283660	103261666	C C	CTTTCTTT others(26): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0195 a0001c0001t0002g0195	1	355	0.0028	33	c.-11 others(52): Show c.-114+2773_-114+2805dupTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT		MACIR	ENSG00000181751.10	transcript	ENST00000319933.7	protein_coding	1/2					INFO_REALIGN_3_PRIME	chr5	TogoVar
MACROD2_chr20_13990516_16058197	16035164	A A	AAATATAA others(26): Show AAATATAAAATATTATATATTATATATAAAATAT	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01168.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0013 a0002c0002t0007g0013	1	23	0.0435	33	c.115 others(52): Show c.1154-6009_1154-5977dupAAATATAATATAAAATATTATATATT ATATATA		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	15/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROH2A2_chr10_70047846_70117282	70051379	T T	TCATTGAA others(26): Show TCATTGAAACCCTTTACATACAACAGAGACTCTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18987.hp2 NA18987.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0113 a0001c0001t0002g0113	1	370	0.0027	33	c.-16 others(44): Show c.-1681_-1680insCATTGAAACCCTTTACATACAACAGAGACTCTG		MACROH2A2	ENSG00000099284.15	transcript	ENST00000373255.9	protein_coding					1466		chr10	TogoVar
MAD1L1_chr7_1810795_2237945	1827578	T T	TCCTCCCC others(26): Show TCCTCCCCTCCTGAGCCCCGCCCGGGTGTGGGGG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02896.hp1 HG03225.hp1 HG01891.hp1 HG02896.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0223 a0001c0006t0001g0158 a0001c0006t0001g0218 a0001c0001t0001g0223 a0001c0006t0001g0158 a0001c0006t0001g0218	3	261	0.0115	33	c.199 others(54): Show c.1999-11351_1999-11350insCCCCCACACCCGGGCGGGGCTCAG GAGGGGAGG		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1827597	T T	TCCCGGGT others(26): Show TCCCGGGTGTGGGGTCCTCCCCTCCTGAGCCCCG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0120 a0002c0005t0001g0120	1	259	0.0039	33	c.199 others(54): Show c.1999-11402_1999-11370dupCGGGGCTCAGGAGGGGAGGACCCC ACACCCGGG		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1827611	T T	TCCTCCCC others(26): Show TCCTCCCCTCCTGAGCCCCGCCCGGGTGTGGGGG	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0250 a0001c0001t0001g0250	1	259	0.0039	33	c.199 others(54): Show c.1999-11416_1999-11384dupCCCCCACACCCGGGCGGGGCTCAG GAGGGGAGG		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1827677	G G	GCCTCCCC others(26): Show GCCTCCCCTCCTGAGCCCTGCGTGGCTGTGGGGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00642.hp1 HG01070.hp2 others(28): Show HG00280.hp1 HG00642.hp1 HG01070.hp2 HG01071.hp1 HG01106.hp1 HG01255.hp1 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01975.hp1 HG01978.hp2 HG02040.hp1 HG02080.hp2 HG02132.hp1 HG02165.hp1 HG02273.hp2 HG02523.hp2 HG02698.hp1 HG02735.hp2 HG02738.hp1 HG03017.hp1 HG03139.hp2 HG04199.hp1 HG04204.hp1 NA18954.hp2 NA18967.hp2 NA18999.hp2 NA19081.hp2 NA19088.hp1 NA20752.hp2 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(2): Show a0001c0001 a0001c0003 a0001c0004 a0001c0010 a0002c0005	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0003t0002 a0001c0004t0001 a0001c0010t0001 a0002c0005t0002	a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 others(28): Show a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0002g0055 a0001c0001t0002g0088 a0001c0001t0002g0103 a0001c0001t0002g0108 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0122 a0001c0001t0002g0166 a0001c0001t0002g0173 a0001c0001t0002g0175 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0201 a0001c0001t0002g0225 a0001c0001t0002g0227 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0231 a0001c0001t0002g0232 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0239 a0001c0003t0001g0132 a0001c0003t0002g0083 a0001c0004t0001g0092 a0001c0010t0001g0084 a0002c0005t0002g0121	31	258	0.1202	33	c.199 others(54): Show c.1999-11450_1999-11449insACCCCACAGCCACGCAGGGCTCAG GAGGGGAGG		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1827801	G G	GTGTGGGG others(26): Show GTGTGGGGTCCTCCCCTCCTGAGCCCGTCCCGGA	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0146 a0001c0001t0001g0147	2	260	0.0077	33	c.199 others(54): Show c.1999-11574_1999-11573insTCCGGGACGGGCTCAGGAGGGGAG GACCCCACA		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	18/18						chr7	TogoVar
MADCAM1_chr19_491486_510343	492172	C C	CCCCTGGG others(26): Show CCCCTGGGCGGAGCCAGCCCCAGGCCCCGCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00738.hp2 HG01099.hp2 others(1): Show HG00280.hp2 HG00738.hp2 HG01099.hp2 HG01175.hp2	a0010 a0010	a0010c0018 a0010c0018	a0010c0018t0002 a0010c0018t0002	a0010c0018t0002g0035 a0010c0018t0002g0175 a0010c0018t0002g0255 a0010c0018t0002g0035 a0010c0018t0002g0175 a0010c0018t0002g0255	4	347	0.0115	33	c.-43 others(44): Show c.-4328_-4327insCCCTGGGCGGAGCCAGCCCCAGGCCCCGCCTCT		MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding					4313		chr19	TogoVar
MAEA_chr4_1284891_1345137	1333821	A A	ACCCCCAT others(26): Show ACCCCCATGCCCGTGTGCTCACCCCCCTGCCCAC	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0319 a0001c0001t0001g0319	1	314	0.0032	33	c.765 others(48): Show c.765+960_765+961insCATGCCCGTGTGCTCACCCCCCTGCCCACC CCC		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1334164	A A	ATGCCCAC others(26): Show ATGCCCACCGTGTGCCCACCCCATGCCCACCATG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0303 a0001c0002t0001g0303	1	79	0.0127	33	c.765 others(50): Show c.765+1307_765+1308insGTGTGCCCACCCCATGCCCACCATGTGC CCACC		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	6/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAGEA9B_chrX_149576653_149592459	149583035	C C	CCTCCTCC others(26): Show CCTCCTCCTCCTTGCTGTCAGAGGAGGAGGTAGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01891.hp2 HG01891.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0025 a0005c0005t0002g0025	1	242	0.0041	33	c.112 others(40): Show c.112_144dupACTACCTCCTCCTCTGACAGCAAGGAGGAGGAG	p.Glu others(44): Show p.Glu48_Val49insThrThrSerSerSerAspSerLysGluGluGlu	MAGEA9B	ENSG00000267978.6	transcript	ENST00000595065.6	protein_coding	4/4	431/1814	144/948	48/315			chrX	TogoVar
MAGEA9B_chrX_149576653_149592459	149584573	A A	ACCCCCCC others(26): Show ACCCCCCCCCCCCCCCCCCCCCCCTCCACCCCCC	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	242	0.0041	33	c.-22 others(50): Show c.-221-941_-221-940insGGGGGGTGGAGGGGGGGGGGGGGGGGGG GGGGG		MAGEA9B	ENSG00000267978.6	transcript	ENST00000595065.6	protein_coding	1/3						chrX	TogoVar
MAGEB6_chrX_26187440_26200646	26195800	T T	TAAAAACC others(26): Show TAAAAACCTTTTTGAAACAAGGCTGCTAAATTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0003 a0001c0001t0003g0003	1	318	0.0031	33	c.73 others(42): Show c.730_*731insAAAAACCTTTTTGAAACAAGGCTGCTAAATTCA		MAGEB6	ENSG00000176746.6	transcript	ENST00000379034.1	protein_coding					155		chrX	TogoVar
MAGI1_chr3_65348526_66043918	65395636	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	18	0.0556	33	c.220 others(52): Show c.2200-4279_2200-4278insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT		MAGI1	ENSG00000151276.24	transcript	ENST00000402939.7	protein_coding	13/22						chr3	TogoVar
MAGI2_chr7_78012055_79458667	79228354	C C	CAAAAAAA others(26): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	1	5	0.2000	33	c.302 others(54): Show c.302-221149_302-221148insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21						chr7	TogoVar
MAGI3_chr1_113385515_113690923	113437862	T T	TCTCCTTC others(26): Show TCTCCTTCTCCTTCTCCTTCTCCTTCTCCTTCTC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0010 a0001c0008t0010	a0001c0008t0010g0056 a0001c0008t0010g0056	1	186	0.0054	33	c.316 others(52): Show c.316+46514_316+46515insTCCTTCTCCTTCTCCTTCTCCTTCTC CTTCTCC		MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113437876	T T	TTCTTCTT others(26): Show TTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCC	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0014 a0001c0001t0004g0014	1	208	0.0048	33	c.316 others(52): Show c.316+46530_316+46531insTCTTCTTCTTCTTCTTCTTCTTCTTC TTCCTCT		MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAGI3_chr1_113385515_113690923	113437922	C C	CCTTCTCC others(26): Show CCTTCTCCTTCTCCTTCTCCTTCTCCTTCTCCTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0126 a0001c0001t0003g0126	1	105	0.0095	33	c.316 others(52): Show c.316+46575_316+46576insTCTCCTTCTCCTTCTCCTTCTCCTTC TCCTTCT		MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
MALRD1_chr10_19043801_19739478	19165265	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATTTTG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0020 a0020	a0020c0041 a0020c0041	a0020c0041t0004 a0020c0041t0004	a0020c0041t0004g0063 a0020c0041t0004g0063	1	122	0.0082	33	c.165 others(50): Show c.1657-371_1657-370insATATATATATATATATATATATATATAT TTTGT		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19165266	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp2 HG02523.hp1 HG02523.hp2	a0003 a0047 a0003 a0047	a0003c0001 a0047c0057 a0003c0001 a0047c0057	a0003c0001t0001 a0047c0057t0001 a0003c0001t0001 a0047c0057t0001	a0003c0001t0001g0135 a0047c0057t0001g0151 a0003c0001t0001g0135 a0047c0057t0001g0151	2	138	0.0145	33	c.165 others(50): Show c.1657-371_1657-370insATATATATATATATATATATATATATAT ATATA		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	12/39						chr10	TogoVar
MALRD1_chr10_19043801_19739478	19355858	T T	TATATATA others(26): Show TATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0008 a0008	a0008c0006 a0008c0006	a0008c0006t0001 a0008c0006t0001	a0008c0006t0001g0094 a0008c0006t0001g0094	1	69	0.0145	33	c.444 others(52): Show c.4441+3561_4441+3562insATATATATATATATATATATATATAT ATATATA		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	26/39						chr10	TogoVar
MAML2_chr11_95971598_96348195	96299056	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	179	0.0056	33	c.513 others(52): Show c.513+42326_513+42327insATATATATATATATATATATATATAT ATATATA		MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4						chr11	TogoVar
MAN1C1_chr1_25611791_25789450	25644518	A A	ATATATAT others(26): Show ATATATATATATATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0147 a0001c0001t0001g0147	1	58	0.0172	33	c.540 others(52): Show c.540+26182_540+26183insATATATATATATATATATATATATTT TTTTTTT		MAN1C1	ENSG00000117643.16	transcript	ENST00000374332.9	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAN2A1_chr5_109684927_109874625	109842806	G G	GTTTTTTT others(26): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0013 a0001c0004t0013	a0001c0004t0013g0282 a0001c0004t0013g0282	1	144	0.0069	33	c.270 others(50): Show c.2700+362_2700+363insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT		MAN2A1	ENSG00000112893.10	transcript	ENST00000261483.5	protein_coding	17/21					INFO_REALIGN_3_PRIME	chr5	TogoVar
MANBA_chr4_102625770_102765968	102682096	G G	GAGATCAC others(26): Show GAGATCACGCCATTGCACTCCAGCCTAGGTAACA	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0040	1	278	0.0036	33	c.960 others(50): Show c.960+7445_960+7477dupTGTTACCTAGGCTGGAGTGCAATGGCGT GATCT		MANBA	ENSG00000109323.11	transcript	ENST00000647097.2	protein_coding	7/16						chr4	TogoVar
MAP1S_chr19_17714480_17739513	17721171	A A	AAGCCGTG others(26): Show AAGCCGTGACCCAGTGATAACCCCCTCAGTCCTC	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	288	0.0035	33	c.220 others(48): Show c.220+138_220+170dupCGTGACCCAGTGATAACCCCCTCAGTCCTC AGC		MAP1S	ENSG00000130479.11	transcript	ENST00000324096.9	protein_coding	2/6					INFO_REALIGN_3_PRIME	chr19	TogoVar

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