Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
MAGI2_chr7_78012055_79458667	78070170	CACACATA others(11): Show CACACATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02451.hp1 HG02897.hp1 others(4): Show HG01261.hp1 HG02451.hp1 HG02897.hp1 HG03041.hp1 HG03486.hp1 HG03486.hp2 HG03579.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0004 others(3): Show a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0013	a0001c0002t0001 a0001c0003t0006 a0001c0004t0001 others(3): Show a0001c0002t0001 a0001c0003t0006 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0013t0001	a0001c0002t0001g0028 a0001c0003t0006g0032 a0001c0004t0001g0031 others(4): Show a0001c0002t0001g0028 a0001c0003t0006g0032 a0001c0004t0001g0031 a0001c0004t0001g0034 a0001c0005t0001g0005 a0001c0006t0001g0038 a0001c0013t0001g0039	7	40	0.1750	-18	c.370 others(37): Show c.3706+8759_3706+8776delATATATATATATATGTGT		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	21/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	78070206	TATATATA others(11): Show TATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG03209.hp1 HG00741.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0002 a0002c0008t0001 a0001c0001t0002 a0002c0008t0001	a0001c0001t0002g0035 a0002c0008t0001g0037 a0001c0001t0002g0035 a0002c0008t0001g0037	2	40	0.0500	-18	c.370 others(37): Show c.3706+8723_3706+8740delGTGTGTATATATATATAT		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	21/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	78151048	CTTTATAT others(11): Show CTTTATATTTATATTTATA	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	40	0.0250	-18	c.284 others(37): Show c.2845+8959_2845+8976delTATAAATATAAATATAAA		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	16/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	78243261	ACACACAC others(11): Show ACACACACACTCTCTCTCT	A A	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0012 a0001c0003t0002g0012	1	40	0.0250	-18	c.204 others(39): Show c.2047+12664_2047+12681delAGAGAGAGAGTGTGTGTG		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	10/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	78358184	AAAAAAAA others(11): Show AAAAAAAAAAAAAATATAT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0005 a0001c0005t0001g0005	1	40	0.0250	-18	c.110 others(39): Show c.1103+10954_1103+10971delATATATTTTTTTTTTTTT		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	7/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	78358188	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG03209.hp1 HG00140.hp1 HG03209.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0008 a0001c0001 a0002c0008	a0001c0001t0002 a0002c0008t0001 a0001c0001t0002 a0002c0008t0001	a0001c0001t0002g0033 a0002c0008t0001g0037 a0001c0001t0002g0033 a0002c0008t0001g0037	2	40	0.0500	-18	c.110 others(39): Show c.1103+10950_1103+10967delATATATATATTTTTTTTT		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	7/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	78358190	AAAAAAAA others(11): Show AAAAAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp2 HG03041.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0004 a0001c0001t0001 a0001c0003t0004	a0001c0001t0001g0036 a0001c0003t0004g0002 a0001c0001t0001g0036 a0001c0003t0004g0002	2	40	0.0500	-18	c.110 others(39): Show c.1103+10948_1103+10965delATATATATATATTTTTTT		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	7/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	78573266	ATATATAA others(11): Show ATATATAAATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 NA18522.hp1 NA19240.hp1 others(1): Show HG03486.hp1 NA18522.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0005 a0001c0002 a0001c0004 a0001c0005	a0001c0002t0001 a0001c0004t0001 a0001c0005t0001 a0001c0002t0001 a0001c0004t0001 a0001c0005t0001	a0001c0002t0001g0008 a0001c0002t0001g0024 a0001c0004t0001g0014 others(1): Show a0001c0002t0001g0008 a0001c0002t0001g0024 a0001c0004t0001g0014 a0001c0005t0001g0005	4	40	0.1000	-18	c.539 others(37): Show c.539-51639_539-51622delAATATATATATTTATATA		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	3/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	78654703	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG02451.hp1 NA19240.hp1 HG01261.hp2 HG02451.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0013 a0001c0002 a0001c0003 a0001c0013	a0001c0002t0001 a0001c0003t0003 a0001c0013t0001 a0001c0002t0001 a0001c0003t0003 a0001c0013t0001	a0001c0002t0001g0024 a0001c0003t0003g0001 a0001c0013t0001g0039 a0001c0002t0001g0024 a0001c0003t0003g0001 a0001c0013t0001g0039	3	40	0.0750	-18	c.419 others(37): Show c.419-27482_419-27465delTATATATATATATATATA		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	78775320	TAAAAAAA others(11): Show TAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0037 a0002c0008t0001g0037	1	40	0.0250	-18	c.419 others(39): Show c.419-148099_419-148082delTTTTTTTTTTTTTTTTTT		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	78903172	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0012 a0001c0003t0002g0012	1	40	0.0250	-18	c.418 others(39): Show c.418+103900_418+103917delAAAAAAAAAAAAAAAAAA		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	2/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	79214391	CTCTCTCT others(11): Show CTCTCTCTCTCTCTCTCTA	C C	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0003 a0001c0002t0005g0003	1	40	0.0250	-18	c.302 others(39): Show c.302-207203_302-207186delTAGAGAGAGAGAGAGAGA		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21						chr7	TogoVar
MAGI2_chr7_78012055_79458667	79423369	GATTTCAA others(11): Show GATTTCAAAGTTCTCTTTT	G G	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02451.hp1 HG02451.hp2 others(17): Show HG00738.hp1 HG02451.hp1 HG02451.hp2 HG02897.hp2 HG02965.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03486.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA19030.hp1 NA19030.hp2 NA20129.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0011 a0001c0012 a0001c0013 a0002c0008	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0005 a0001c0003t0001 a0001c0003t0002 a0001c0003t0004 a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0001 a0001c0011t0001 a0001c0012t0001 a0001c0013t0001 a0002c0008t0001	a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0036 others(17): Show a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0036 a0001c0001t0002g0006 a0001c0001t0002g0013 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0005g0003 a0001c0003t0001g0011 a0001c0003t0002g0012 a0001c0003t0004g0002 a0001c0004t0001g0018 a0001c0005t0001g0005 a0001c0006t0001g0038 a0001c0007t0001g0040 a0001c0011t0001g0023 a0001c0012t0001g0022 a0001c0013t0001g0039 a0002c0008t0001g0037	20	40	0.5000	-18	c.301 others(37): Show c.301+29633_301+29650delAAAAGAGAACTTTGAAAT		MAGI2	ENSG00000187391.23	transcript	ENST00000354212.9	protein_coding	1/21						chr7	TogoVar
MAGI3_chr1_113385515_113690923	113437846	TTCTTCTT others(11): Show TTCTTCTTCTTCTTCTTCC	T T	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01175.hp1 HG03209.hp2 others(6): Show HG01069.hp1 HG01175.hp1 HG03209.hp2 HG04204.hp1 NA18943.hp2 NA18957.hp1 NA18986.hp1 NA19003.hp1 NA19077.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0147 others(6): Show a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0165 a0001c0001t0001g0172 a0001c0001t0001g0182 a0001c0001t0001g0211 a0001c0001t0002g0207	9	236	0.0381	-18	c.316 others(37): Show c.316+46513_316+46530delTCCTCTTCTTCTTCTTCT		MAGI3	ENSG00000081026.19	transcript	ENST00000307546.14	protein_coding	1/20					INFO_REALIGN_3_PRIME	chr1	TogoVar
MAG_chr19_35287161_35318807	35297184	TCACCACA others(11): Show TCACCACACACTACACACA	T T	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	434	0.0023	-18	c.415 others(35): Show c.415+1214_415+1231delTACACACACACCACACAC		MAG	ENSG00000105695.15	transcript	ENST00000392213.8	protein_coding	4/10					INFO_REALIGN_3_PRIME	chr19	TogoVar
MAJIN_chr11_64933230_64977108	64948631	ATATATAT others(11): Show ATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02451.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0370 a0001c0001t0001g0371	2	384	0.0052	-18	c.350 others(33): Show c.350-830_350-813delAAAAAAAAAATATATATA		MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10						chr11	TogoVar
MAJIN_chr11_64933230_64977108	64948633	ATATATAT others(11): Show ATATATATTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	384	0.0026	-18	c.350 others(33): Show c.350-832_350-815delAAAAAAAAAAAATATATA		MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10						chr11	TogoVar
MAJIN_chr11_64933230_64977108	64948635	ATATATTT others(11): Show ATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG03540.hp1 HG01934.hp2 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0001	2	384	0.0052	-18	c.350 others(33): Show c.350-834_350-817delAAAAAAAAAAAAAATATA		MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10						chr11	TogoVar
MAJIN_chr11_64933230_64977108	64948639	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02970.hp1 NA18522.hp1 HG02717.hp2 HG02970.hp1 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0014 a0001c0002t0002g0010 a0001c0002t0002g0011 a0001c0002t0002g0014	3	384	0.0078	-18	c.350 others(33): Show c.350-838_350-821delAAAAAAAAAAAAAAAAAA		MAJIN	ENSG00000168070.12	transcript	ENST00000301896.6	protein_coding	6/10						chr11	TogoVar
MAK16_chr8_33480182_33506262	33481073	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp1 HG02083.hp2 HG02155.hp2 others(14): Show HG00597.hp1 HG02083.hp2 HG02155.hp2 HG02486.hp2 HG02523.hp1 NA18612.hp1 NA18943.hp1 NA18944.hp1 NA18952.hp1 NA18959.hp2 NA18962.hp1 NA18964.hp1 NA18977.hp1 NA18980.hp1 NA18984.hp2 NA19058.hp1 NA19081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 others(6): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0011 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0128 a0002c0002t0002g0146 a0002c0002t0002g0156 a0002c0002t0002g0174	17	400	0.0425	-18	c.-41 others(29): Show c.-4133_-4116delTTTTTTTTTTTTTTTTTT		MAK16	ENSG00000198042.11	transcript	ENST00000360128.11	protein_coding					4108		chr8	TogoVar
MAK16_chr8_33480182_33506262	33495685	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02155.hp1 HG02602.hp1 others(5): Show HG00438.hp1 HG02155.hp1 HG02602.hp1 HG02886.hp1 HG03942.hp2 NA18977.hp2 NA19012.hp2 NA19063.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0029 others(1): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0029 a0002c0002t0005	a0001c0001t0001g0088 a0001c0001t0007g0096 a0001c0001t0029g0111 others(3): Show a0001c0001t0001g0088 a0001c0001t0007g0096 a0001c0001t0029g0111 a0002c0002t0005g0026 a0002c0002t0005g0116 a0002c0002t0005g0177	8	400	0.0200	-18	c.522 others(33): Show c.522+101_522+118delTTTTTTTTTTTTTTTTTT		MAK16	ENSG00000198042.11	transcript	ENST00000360128.11	protein_coding	7/9					INFO_REALIGN_3_PRIME	chr8	TogoVar
MAK_chr6_10757723_10843539	10765440	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp1 HG00408.hp2 others(174): Show HG00099.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp1 HG02273.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03927.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18971.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19005.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19066.hp1 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19082.hp1 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19089.hp1 NA19089.hp2 NA20129.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0007	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0008 a0002c0003 a0006c0007 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0002t0005 a0001c0004t0006 a0001c0005t0001 a0001c0008t0001 a0002c0003t0001 a0002c0003t0013 a0006c0007t0001 a0007c0010t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 others(174): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0085 a0001c0001t0001g0090 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0164 a0001c0001t0001g0168 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0233 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0002g0007 a0001c0001t0002g0067 a0001c0001t0002g0089 a0001c0001t0002g0130 a0001c0001t0002g0222 a0001c0001t0002g0255 a0001c0001t0006g0235 a0001c0001t0011g0062 a0001c0001t0012g0227 a0001c0001t0014g0020 a0001c0002t0005g0203 a0001c0004t0006g0198 a0001c0004t0006g0201 a0001c0005t0001g0086 a0001c0008t0001g0207 a0002c0003t0001g0189 a0002c0003t0001g0261 a0002c0003t0001g0262 a0002c0003t0001g0263 a0002c0003t0001g0265 a0002c0003t0001g0266 a0002c0003t0001g0267 a0002c0003t0013g0264 a0006c0007t0001g0078 a0007c0010t0001g0075	177	272	0.6507	-18	c.179 others(35): Show c.1793-852_1793-835delAAAAAAAAAAAAAAAAAA		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	14/14						chr6	TogoVar
MAK_chr6_10757723_10843539	10813084	TTTTATAT others(11): Show TTTTATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0089 a0001c0001t0002g0089	1	272	0.0037	-18	c.358 others(33): Show c.358+542_358+559delTATATATATATATATAAA		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14						chr6	TogoVar
MAK_chr6_10757723_10843539	10813117	TATATATA others(11): Show TATATATATATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG03130.hp1 HG02559.hp2 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0151 a0001c0001t0001g0017 a0001c0001t0001g0151	2	272	0.0074	-18	c.358 others(33): Show c.358+509_358+526delTTATATATATATATATAT		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14						chr6	TogoVar
MAK_chr6_10757723_10843539	10813120	ATATATAT others(11): Show ATATATATATATATAAATT	A A	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02155.hp2 HG02647.hp1 HG00642.hp2 HG02155.hp2 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0002t0003g0170 a0001c0001t0001g0140 a0001c0001t0001g0153 a0001c0002t0003g0170	3	272	0.0110	-18	c.358 others(33): Show c.358+506_358+523delAATTTATATATATATATA		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14						chr6	TogoVar
MAK_chr6_10757723_10843539	10813124	ATATATAT others(11): Show ATATATATATAAATTTTTT	A A	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA18971.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0208 a0001c0002t0005g0208	1	272	0.0037	-18	c.358 others(33): Show c.358+502_358+519delAAAAAATTTATATATATA		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	5/14						chr6	TogoVar
MAK_chr6_10757723_10843539	10815912	GTATATAT others(11): Show GTATATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0095 a0001c0002t0003g0095	1	272	0.0037	-18	c.278 others(35): Show c.278+1920_278+1937delTATATATATATATATATA		MAK	ENSG00000111837.12	transcript	ENST00000354489.7	protein_coding	4/14						chr6	TogoVar
MAL2_chr8_119203363_119250673	119226623	ATGAAGGC others(11): Show ATGAAGGCAATTAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(188): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp2 HG02300.hp2 HG02523.hp2 HG02602.hp1 HG02615.hp2 HG02647.hp1 HG02683.hp1 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18974.hp1 NA18977.hp2 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18992.hp1 NA18995.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp2 NA19004.hp1 NA19005.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19054.hp1 NA19056.hp2 NA19057.hp2 NA19058.hp2 NA19062.hp2 NA19064.hp1 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp2 NA19091.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0013 a0003c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(137): Show a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0185 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0247 a0001c0001t0001g0260 a0001c0001t0001g0262 a0001c0001t0002g0218 a0001c0001t0002g0259 a0001c0001t0003g0102 a0001c0001t0003g0117 a0001c0001t0006g0036 a0001c0001t0006g0139 a0001c0001t0006g0157 a0001c0001t0012g0162 a0001c0001t0013g0026 a0003c0004t0001g0011	191	382	0.5000	-18	c.303 others(35): Show c.303+4885_303+4902delTGAAGGCAATTAAGAAAG		MAL2	ENSG00000147676.14	transcript	ENST00000614891.5	protein_coding	2/3					INFO_REALIGN_3_PRIME	chr8	TogoVar
MALL_chr2_110078870_110120822	110092700	TATAATAA others(11): Show TATAATAATAATAATAATA	T T	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0052 a0001c0001t0003g0052	1	335	0.0030	-18	c.106 others(33): Show c.106-948_106-931delTATTATTATTATTATTAT		MALL	ENSG00000144063.4	transcript	ENST00000272462.3	protein_coding	1/3						chr2	TogoVar
MALRD1_chr10_19043801_19739478	19237834	ATTATATA others(11): Show ATTATATATAATTATATAG	A A	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0037 a0037	a0037c0043 a0037c0043	a0037c0043t0002 a0037c0043t0002	a0037c0043t0002g0148 a0037c0043t0002g0148	1	152	0.0066	-18	c.299 others(39): Show c.2992-19831_2992-19814delTTATATATAATTATATAG		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	18/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19270334	TCTCACAC others(11): Show TCTCACACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02818.hp1 HG02055.hp2 HG02818.hp1	a0052 a0053 a0052 a0053	a0052c0050 a0053c0051 a0052c0050 a0053c0051	a0052c0050t0002 a0053c0051t0002 a0052c0050t0002 a0053c0051t0002	a0052c0050t0002g0019 a0053c0051t0002g0065 a0052c0050t0002g0019 a0053c0051t0002g0065	2	152	0.0132	-18	c.308 others(37): Show c.3080-9711_3080-9694delTCACACACACACACACAC		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	19/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19280713	TTTACCTG others(11): Show TTTACCTGCCAATTCAATG	T T	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0078 a0078	a0078c0087 a0078c0087	a0078c0087t0003 a0078c0087t0003	a0078c0087t0003g0106 a0078c0087t0003g0106	1	152	0.0066	-18	c.325 others(35): Show c.3256+491_3256+508delTTACCTGCCAATTCAATG		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	20/39						chr10	TogoVar
MALRD1_chr10_19043801_19739478	19368873	GTGTGTGT others(11): Show GTGTGTGTGTGTGTGTGTT	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0050 a0050	a0050c0049 a0050c0049	a0050c0049t0001 a0050c0049t0001	a0050c0049t0001g0022 a0050c0049t0001g0022	1	152	0.0066	-18	c.444 others(39): Show c.4441+16594_4441+16611delTTGTGTGTGTGTGTGTGT		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	26/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19469706	GGTTACAT others(11): Show GGTTACATGCCAAAAGTAA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0057 a0001c0001t0001g0057	1	152	0.0066	-18	c.502 others(39): Show c.5029+19231_5029+19248delGTAAGTTACATGCCAAAA		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	29/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19539857	CGTGTGTG others(11): Show CGTGTGTGTGTGTGTGTGT	C C	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG02071.hp2 HG02132.hp2 others(6): Show HG00544.hp2 HG02071.hp2 HG02132.hp2 HG02486.hp1 NA18957.hp2 NA18960.hp1 NA18988.hp1 NA19088.hp1 NA19091.hp2	a0001 a0023 a0026 others(4): Show a0001 a0023 a0026 a0028 a0029 a0063 a0086	a0001c0003 a0023c0112 a0026c0062 others(5): Show a0001c0003 a0023c0112 a0026c0062 a0028c0097 a0028c0098 a0029c0021 a0063c0057 a0086c0103	a0001c0003t0001 a0023c0112t0001 a0026c0062t0001 others(5): Show a0001c0003t0001 a0023c0112t0001 a0026c0062t0001 a0028c0097t0001 a0028c0098t0001 a0029c0021t0002 a0063c0057t0001 a0086c0103t0001	a0001c0003t0001g0114 a0001c0003t0001g0115 a0023c0112t0001g0037 others(6): Show a0001c0003t0001g0114 a0001c0003t0001g0115 a0023c0112t0001g0037 a0026c0062t0001g0111 a0028c0097t0001g0104 a0028c0098t0001g0040 a0029c0021t0002g0092 a0063c0057t0001g0150 a0086c0103t0001g0007	9	152	0.0592	-18	c.547 others(37): Show c.5478+8530_5478+8547delTGTGTGTGTGTGTGTGTG		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19547785	CATATATA others(11): Show CATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp2 HG03209.hp2 others(2): Show HG00642.hp1 HG00642.hp2 HG03209.hp2 NA19043.hp2 NA20129.hp2	a0009 a0012 a0017 others(2): Show a0009 a0012 a0017 a0073 a0076	a0009c0071 a0012c0041 a0017c0072 others(2): Show a0009c0071 a0012c0041 a0017c0072 a0073c0031 a0076c0085	a0009c0071t0001 a0012c0041t0004 a0017c0072t0002 others(2): Show a0009c0071t0001 a0012c0041t0004 a0017c0072t0002 a0073c0031t0001 a0076c0085t0001	a0009c0071t0001g0001 a0012c0041t0004g0063 a0017c0072t0002g0082 others(2): Show a0009c0071t0001g0001 a0012c0041t0004g0063 a0017c0072t0002g0082 a0073c0031t0001g0136 a0076c0085t0001g0052	5	152	0.0329	-18	c.547 others(39): Show c.5478+16451_5478+16468delATATATATATATATATAT		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	32/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MALRD1_chr10_19043801_19739478	19699277	AGAAAGGA others(11): Show AGAAAGGAGGGAAAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG02451.hp1 others(4): Show HG01070.hp1 HG01071.hp1 HG02451.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 NA18522.hp1	a0018 a0027 a0036 others(3): Show a0018 a0027 a0036 a0037 a0049 a0082	a0018c0017 a0027c0019 a0036c0045 others(3): Show a0018c0017 a0027c0019 a0036c0045 a0037c0043 a0049c0077 a0082c0083	a0018c0017t0001 a0027c0019t0002 a0036c0045t0001 others(3): Show a0018c0017t0001 a0027c0019t0002 a0036c0045t0001 a0037c0043t0002 a0049c0077t0001 a0082c0083t0001	a0018c0017t0001g0107 a0027c0019t0002g0071 a0027c0019t0002g0072 others(4): Show a0018c0017t0001g0107 a0027c0019t0002g0071 a0027c0019t0002g0072 a0036c0045t0001g0014 a0037c0043t0002g0148 a0049c0077t0001g0140 a0082c0083t0001g0043	7	152	0.0461	-18	c.631 others(37): Show c.6314+6757_6314+6774delAGGGAAAGGAGGGAAAGG		MALRD1	ENSG00000204740.11	transcript	ENST00000454679.7	protein_coding	38/39					INFO_REALIGN_3_PRIME	chr10	TogoVar
MALT1_chr18_58666465_58759477	58692431	TCTCTCAC others(11): Show TCTCTCACTCTCTCCCTCC	T T	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0078 a0001c0001t0007g0078	1	406	0.0025	-18	c.377 others(35): Show c.377-3931_377-3914delTCACTCTCTCCCTCCCTC		MALT1	ENSG00000172175.16	transcript	ENST00000649217.2	protein_coding	2/16					INFO_REALIGN_3_PRIME	chr18	TogoVar
MALT1_chr18_58666465_58759477	58727962	CGTGCCTG others(11): Show CGTGCCTGGCACATAGTAA	C C	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02486.hp1 HG00642.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0068 a0001c0001t0028g0381 a0001c0001t0028g0068 a0001c0001t0028g0381	2	406	0.0049	-18	c.122 others(37): Show c.1222+4717_1222+4734delTGGCACATAGTAAGTGCC		MALT1	ENSG00000172175.16	transcript	ENST00000649217.2	protein_coding	10/16					INFO_REALIGN_3_PRIME	chr18	TogoVar
MAMDC2_chr9_70038848_70231972	70118151	AACCCCTG others(11): Show AACCCCTGAGTTCCAGGCT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp2 HG03130.hp2 others(2): Show HG02258.hp2 HG02818.hp2 HG03130.hp2 NA18906.hp1 NA19030.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0001 a0003c0007t0001g0004 a0003c0007t0001g0005 others(1): Show a0003c0007t0001g0001 a0003c0007t0001g0004 a0003c0007t0001g0005 a0003c0007t0001g0006	5	340	0.0147	-18	c.643 others(35): Show c.643+5022_643+5039delCCCTGAGTTCCAGGCTAC		MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	5/13					INFO_REALIGN_3_PRIME	chr9	TogoVar
MAMDC4_chr9_136847346_136865799	136855250	TCAGATCC others(11): Show TCAGATCCTCCTGGCCGGG	T T	disruptive_inframe_deletion others(1): Show disruptive_inframe_deletion splice_region_variant	MODERATE	HG02040.hp2 HG02040.hp2	a0030 a0030	a0030c0038 a0030c0038	a0030c0038t0001 a0030c0038t0001	a0030c0038t0001g0031 a0030c0038t0001g0031	1	350	0.0029	-18	c.119 others(27): Show c.1199_1216delTCCTCCTGGCCGGGCAGA	p.Ile others(13): Show p.Ile400_Gln405del	MAMDC4	ENSG00000177943.14	transcript	ENST00000317446.7	protein_coding	11/27	1270/3681	1199/3414	400/1137		INFO_REALIGN_3_PRIME	chr9	TogoVar
MAML1_chr5_179727822_179782283	179753206	TGTGTGTG others(11): Show TGTGTGTGTGTGTGTGTGC	T T	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0009 a0002c0003t0009	a0002c0003t0009g0046 a0002c0003t0009g0046	1	360	0.0028	-18	c.316 others(37): Show c.316-12118_316-12101delTGTGTGTGTGTGTGTGCG		MAML1	ENSG00000161021.13	transcript	ENST00000292599.4	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
MAML2_chr11_95971598_96348195	96003078	GGAGGATG others(11): Show GGAGGATGATGGGGATGAT	G G	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03834.hp1 HG04204.hp1 HG03017.hp2 HG03834.hp1 HG04204.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0016 a0001c0002t0003 a0001c0001t0005 a0001c0001t0016 a0001c0002t0003	a0001c0001t0005g0051 a0001c0001t0016g0074 a0001c0002t0003g0115 a0001c0001t0005g0051 a0001c0001t0016g0074 a0001c0002t0003g0115	3	230	0.0130	-18	c.214 others(39): Show c.2140-11373_2140-11356delATCATCCCCATCATCCTC		MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4						chr11	TogoVar
MAML2_chr11_95971598_96348195	96019671	CTGATAAT others(11): Show CTGATAATAATAATTATAA	C C	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03209.hp2 HG02723.hp1 HG03209.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0007 a0001c0001 a0005c0007	a0001c0001t0039 a0005c0007t0002 a0001c0001t0039 a0005c0007t0002	a0001c0001t0039g0179 a0005c0007t0002g0064 a0001c0001t0039g0179 a0005c0007t0002g0064	2	230	0.0087	-18	c.214 others(39): Show c.2140-27966_2140-27949delTTATAATTATTATTATCA		MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	2/4						chr11	TogoVar
MAML2_chr11_95971598_96348195	96148659	TACACACA others(11): Show TACACACACACACACACAC	T T	intron_variant intron_variant	MODIFIER	HG02132.hp1 NA18612.hp1 HG02132.hp1 NA18612.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0006 a0001c0002 a0003c0006	a0001c0002t0003 a0003c0006t0010 a0001c0002t0003 a0003c0006t0010	a0001c0002t0003g0211 a0003c0006t0010g0008 a0001c0002t0003g0211 a0003c0006t0010g0008	2	230	0.0087	-18	c.514 others(37): Show c.514-55160_514-55143delGTGTGTGTGTGTGTGTGT		MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4						chr11	TogoVar
MAML2_chr11_95971598_96348195	96155509	AATATATA others(11): Show AATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03831.hp2 HG00323.hp1 HG03831.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0135 a0001c0002t0002g0037 a0001c0002t0001g0135 a0001c0002t0002g0037	2	230	0.0087	-18	c.514 others(37): Show c.514-62010_514-61993delATATATATATATATATAT		MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4						chr11	TogoVar
MAML2_chr11_95971598_96348195	96166169	TCTCTCTC others(11): Show TCTCTCTCTCACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0079 a0001c0002t0002g0079	1	230	0.0044	-18	c.514 others(37): Show c.514-72670_514-72653delTGTGTGTGTGAGAGAGAG		MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4						chr11	TogoVar
MAML2_chr11_95971598_96348195	96212108	AGTGTGTG others(11): Show AGTGTGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG03486.hp2 HG02647.hp2 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0005 a0001c0002 a0004c0005	a0001c0002t0004 a0004c0005t0004 a0001c0002t0004 a0004c0005t0004	a0001c0002t0004g0192 a0004c0005t0004g0156 a0001c0002t0004g0192 a0004c0005t0004g0156	2	230	0.0087	-18	c.514 others(39): Show c.514-118609_514-118592delACACACACACACACACAC		MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4						chr11	TogoVar
MAML2_chr11_95971598_96348195	96243041	CACACACA others(11): Show CACACACACACATACACAT	C C	intron_variant intron_variant	MODIFIER	HG00558.hp1 NA18994.hp1 NA19074.hp1 HG00558.hp1 NA18994.hp1 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0005 a0001c0002t0001 a0001c0002t0005	a0001c0002t0001g0207 a0001c0002t0005g0042 a0001c0002t0005g0054 a0001c0002t0001g0207 a0001c0002t0005g0042 a0001c0002t0005g0054	3	230	0.0130	-18	c.513 others(37): Show c.513+98324_513+98341delATGTGTATGTGTGTGTGT		MAML2	ENSG00000184384.15	transcript	ENST00000524717.6	protein_coding	1/4						chr11	TogoVar
MAML3_chr4_139711753_140159184	139946915	ACACACAC others(11): Show ACACACACACACTCTCTCT	A A	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0032 a0001c0004t0001g0032	1	152	0.0066	-18	c.469 others(37): Show c.469-55966_469-55949delAGAGAGAGTGTGTGTGTG		MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	1/4						chr4	TogoVar

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