Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	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
LYPD4_chr19_41832074_41849683	41843063	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAC	A A	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01884.hp1 HG01952.hp2 others(3): Show HG01167.hp1 HG01884.hp1 HG01952.hp2 HG01975.hp2 HG03209.hp2 NA18960.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0008 a0001c0001t0001 a0001c0001t0006 a0001c0001t0008	a0001c0001t0001g0028 a0001c0001t0001g0173 a0001c0001t0006g0141 others(1): Show a0001c0001t0001g0028 a0001c0001t0001g0173 a0001c0001t0006g0141 a0001c0001t0008g0143	6	428	0.0140	-15	c.-12 others(32): Show c.-121+500_-121+514delGTTTTTTTTTTTTTT		LYPD4	ENSG00000273111.6	transcript	ENST00000609812.6	protein_coding	1/4						chr19	TogoVar
LYPD4_chr19_41832074_41849683	41843064	AAAAAAAA others(8): Show AAAAAAAAAAAAAACC	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00642.hp2 others(24): Show HG00099.hp2 HG00323.hp1 HG00642.hp2 HG01109.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp1 HG01433.hp2 HG02040.hp1 HG02074.hp1 HG02074.hp2 HG02559.hp2 HG02897.hp2 HG03453.hp2 HG03492.hp2 HG03834.hp2 HG03942.hp1 HG04228.hp1 NA18940.hp1 NA18941.hp1 NA18944.hp1 NA18957.hp2 NA19000.hp1 NA19005.hp1 NA19054.hp2 NA19055.hp1 NA19091.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0002t0004 a0001c0001t0004 a0001c0002t0002 a0001c0002t0004	a0001c0001t0004g0134 a0001c0002t0002g0006 a0001c0002t0002g0037 others(14): Show a0001c0001t0004g0134 a0001c0002t0002g0006 a0001c0002t0002g0037 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0070 a0001c0002t0002g0108 a0001c0002t0002g0109 a0001c0002t0002g0110 a0001c0002t0002g0111 a0001c0002t0002g0112 a0001c0002t0002g0113 a0001c0002t0002g0114 a0001c0002t0004g0133 a0001c0002t0004g0135 a0001c0002t0004g0136	27	428	0.0631	-15	c.-12 others(32): Show c.-121+499_-121+513delGGTTTTTTTTTTTTT		LYPD4	ENSG00000273111.6	transcript	ENST00000609812.6	protein_coding	1/4						chr19	TogoVar
LYPD4_chr19_41832074_41849683	41843906	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA19064.hp1 NA19070.hp2 NA19064.hp1 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0033 a0001c0002t0013g0033	2	428	0.0047	-15	c.-46 others(24): Show c.-464_-450delTTTTTTTTTTTTTTT		LYPD4	ENSG00000273111.6	transcript	ENST00000609812.6	protein_coding	1/5				4622		chr19	TogoVar
LYPD6B_chr2_149033699_149220262	149072482	TTTTTATT others(8): Show TTTTTATTTTATTTTA	T T	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02818.hp1 HG02896.hp2 others(1): Show HG02622.hp1 HG02818.hp1 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(1): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106	4	264	0.0152	-15	c.-67 others(34): Show c.-67+33720_-67+33734delTATTTTATTTTATTT		LYPD6B	ENSG00000150556.17	transcript	ENST00000409642.8	protein_coding	1/6					INFO_REALIGN_3_PRIME	chr2	TogoVar
LYPD8_chr1_248734415_248760759	248748303	GTGTTGCT others(8): Show GTGTTGCTGCATTCCT	G G	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG03654.hp1 HG03654.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0001 a0008c0009t0001	a0008c0009t0001g0149 a0008c0009t0001g0149	1	374	0.0027	-15	c.308 others(22): Show c.308_322delAGGAATGCAGCAACA	p.Lys others(13): Show p.Lys103_Asn107del	LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	5/7	574/1162	308/714	103/237			chr1	TogoVar
LYPD8_chr1_248734415_248760759	248751105	AGGATGGG others(8): Show AGGATGGGGACCACAG	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0173 a0001c0001t0007g0173	1	374	0.0027	-15	c.-39 others(22): Show c.-39_-25delCTGTGGTCCCCATCC		LYPD8	ENSG00000259823.6	transcript	ENST00000590317.4	protein_coding	3/7				25		chr1	TogoVar
LYRM1_chr16_20895771_20930006	20907157	ATGATATA others(8): Show ATGATATACAGTAGTT	A A	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02965.hp2 HG03225.hp1 others(1): Show HG02486.hp1 HG02965.hp2 HG03225.hp1 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0024 a0001c0001t0001g0050 a0001c0001t0001g0051	4	382	0.0105	-15	c.-1+ others(30): Show c.-1+6280_-1+6294delAGTTTGATATACAGT		LYRM1	ENSG00000102897.10	transcript	ENST00000567954.6	protein_coding	1/3					INFO_REALIGN_3_PRIME	chr16	TogoVar
LYRM4_chr6_5103419_5265950	5245108	AAAAAAAT others(8): Show AAAAAAATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02071.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0240 a0002c0002t0006g0240	1	286	0.0035	-15	c.86+ others(32): Show c.86+15525_86+15539delATATATATATTTTTT		LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	1/2						chr6	TogoVar
LYRM4_chr6_5103419_5265950	5245112	AAATATAT others(8): Show AAATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0192 a0001c0001t0017g0192	1	286	0.0035	-15	c.86+ others(32): Show c.86+15521_86+15535delATATATATATATATT		LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	1/2						chr6	TogoVar
LYRM4_chr6_5103419_5265950	5245114	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0010 a0002c0002t0010	a0002c0002t0010g0191 a0002c0002t0010g0191	1	286	0.0035	-15	c.86+ others(32): Show c.86+15519_86+15533delATATATATATATATA		LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	1/2						chr6	TogoVar
LYRM4_chr6_5103419_5265950	5256490	GGAAAAAA others(8): Show GGAAAAAAAAAAAAAA	G G	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01952.hp1 HG02257.hp2 others(6): Show HG01934.hp2 HG01952.hp1 HG02257.hp2 HG02451.hp1 HG02965.hp2 HG02970.hp2 HG03195.hp2 HG03453.hp2 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(2): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0014	a0002c0002t0002g0007 a0002c0002t0002g0019 a0002c0002t0002g0026 others(6): Show a0002c0002t0002g0007 a0002c0002t0002g0019 a0002c0002t0002g0026 a0002c0002t0003g0201 a0002c0002t0004g0006 a0002c0002t0004g0008 a0002c0002t0004g0020 a0002c0002t0006g0202 a0002c0002t0014g0018	9	286	0.0315	-15	c.86+ others(30): Show c.86+4143_86+4157delTTTTTTTTTTTTTTC		LYRM4	ENSG00000214113.11	transcript	ENST00000330636.9	protein_coding	1/2						chr6	TogoVar
LYRM7_chr5_131165944_131210428	131190140	AAAAAAAA others(8): Show AAAAAAAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0037 a0001c0001t0037	a0001c0001t0037g0032 a0001c0001t0037g0032	1	300	0.0033	-15	c.244 others(32): Show c.244+3045_244+3059delAGAAAAAAAAAGAAA		LYRM7	ENSG00000186687.16	transcript	ENST00000379380.9	protein_coding	4/4					INFO_REALIGN_3_PRIME	chr5	TogoVar
LYRM9_chr17_27873358_27898365	27883835	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0214 a0001c0001t0003g0214	1	394	0.0025	-15	c.-18 others(32): Show c.-18-1138_-18-1124delTTTTTTTTTTTTTTT		LYRM9	ENSG00000232859.10	transcript	ENST00000379102.8	protein_coding	1/3						chr17	TogoVar
LYST_chr1_235656041_235871906	235755388	CAAAAGAA others(8): Show CAAAAGAAAAGAAAAG	C C	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0122 a0002c0007t0001g0122	1	236	0.0042	-15	c.722 others(30): Show c.7229+75_7229+89delCTTTTCTTTTCTTTT		LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	25/52						chr1	TogoVar
LYST_chr1_235656041_235871906	235760511	TAGTGCAT others(8): Show TAGTGCATGGGATACA	T T	intron_variant intron_variant	MODIFIER	NA18959.hp1 NA19011.hp2 NA18959.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0177 a0001c0010t0001g0136 a0001c0001t0001g0177 a0001c0010t0001g0136	2	236	0.0085	-15	c.625 others(32): Show c.6254-927_6254-913delTGTATCCCATGCACT		LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	22/52						chr1	TogoVar
LYST_chr1_235656041_235871906	235798578	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG02145.hp2 NA19030.hp2 HG02145.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0008 a0001c0002t0001 a0001c0002t0008	a0001c0002t0001g0036 a0001c0002t0008g0081 a0001c0002t0001g0036 a0001c0002t0008g0081	2	236	0.0085	-15	c.400 others(34): Show c.4006+1727_4006+1741delTTTTTTTTTTTTTTT		LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	10/52						chr1	TogoVar
LYST_chr1_235656041_235871906	235799928	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG03209.hp2 HG01517.hp1 HG03209.hp2	a0001 a0020 a0001 a0020	a0001c0001 a0020c0035 a0001c0001 a0020c0035	a0001c0001t0001 a0020c0035t0011 a0001c0001t0001 a0020c0035t0011	a0001c0001t0001g0134 a0020c0035t0011g0172 a0001c0001t0001g0134 a0020c0035t0011g0172	2	236	0.0085	-15	c.400 others(32): Show c.4006+377_4006+391delAAAAAAAAAAAAAAA		LYST	ENSG00000143669.16	transcript	ENST00000389793.7	protein_coding	10/52						chr1	TogoVar
LZTS1_chr8_20241165_20308963	20251113	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03486.hp2 HG03209.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0027 a0001c0002t0018g0247 a0001c0002t0018g0027 a0001c0002t0018g0247	2	406	0.0049	-15	c.115 others(32): Show c.1150-765_1150-751delATATATATATATATA		LZTS1	ENSG00000061337.16	transcript	ENST00000381569.5	protein_coding	3/3						chr8	TogoVar
M1AP_chr2_74552883_74653330	74561076	GAGGAGGA others(8): Show GAGGAGGAGGAGGAGA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG02109.hp1 HG02145.hp1 others(12): Show HG01256.hp2 HG02109.hp1 HG02145.hp1 HG02280.hp1 HG02486.hp1 HG02615.hp2 HG02886.hp2 HG02895.hp2 HG02965.hp1 HG02970.hp2 HG03139.hp1 HG03195.hp1 HG03516.hp1 NA18906.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0015 a0001c0001t0006 a0001c0001t0015	a0001c0001t0006g0001 a0001c0001t0006g0012 a0001c0001t0006g0013 others(11): Show a0001c0001t0006g0001 a0001c0001t0006g0012 a0001c0001t0006g0013 a0001c0001t0006g0014 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0022 a0001c0001t0006g0024 a0001c0001t0006g0028 a0001c0001t0015g0023	15	248	0.0605	-15	c.128 others(32): Show c.1282-800_1282-786delTCTCCTCCTCCTCCT		M1AP	ENSG00000159374.18	transcript	ENST00000421985.2	protein_coding	8/10						chr2	TogoVar
M1AP_chr2_74552883_74653330	74561091	AAGGAGAA others(8): Show AAGGAGAAGGAGGAGG	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01346.hp1 HG01884.hp2 others(9): Show HG01109.hp2 HG01346.hp1 HG01884.hp2 HG01952.hp2 HG01993.hp2 HG02451.hp1 HG02622.hp2 HG02630.hp2 HG02809.hp1 HG03486.hp2 HG03579.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0091 a0001c0001t0003g0139 a0001c0001t0003g0140 others(9): Show a0001c0001t0002g0091 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0141 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0241 a0001c0001t0004g0119 a0001c0001t0007g0109 a0001c0001t0007g0120 a0001c0001t0007g0123	12	248	0.0484	-15	c.128 others(32): Show c.1282-815_1282-801delCCTCCTCCTTCTCCT		M1AP	ENSG00000159374.18	transcript	ENST00000421985.2	protein_coding	8/10						chr2	TogoVar
M1AP_chr2_74552883_74653330	74561142	AAGGAGGA others(8): Show AAGGAGGAGGAGAAGG	A A	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0082 a0001c0001t0004g0082	1	248	0.0040	-15	c.128 others(32): Show c.1282-866_1282-852delCCTTCTCCTCCTCCT		M1AP	ENSG00000159374.18	transcript	ENST00000421985.2	protein_coding	8/10						chr2	TogoVar
MAB21L1_chr13_35468789_35481689	35476296	CCTGCTGC others(8): Show CCTGCTGCTGCTGCTG	C C	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02148.hp1 HG02486.hp2 HG02735.hp1 others(6): Show HG02148.hp1 HG02486.hp2 HG02735.hp1 HG02965.hp2 HG03209.hp1 HG03540.hp2 HG03710.hp2 HG03942.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0043 a0001c0001t0016 a0001c0001t0043	a0001c0001t0016g0000 a0001c0001t0043g0000 a0001c0001t0016g0000 a0001c0001t0043g0000	9	466	0.0193	-15	c.-17 others(24): Show c.-173_-159delCAGCAGCAGCAGCAG		MAB21L1	ENSG00000180660.9	transcript	ENST00000379919.6	protein_coding	1/1				159		chr13	TogoVar
MAB21L3_chr1_116106399_116143149	116140961	AAATAATA others(8): Show AAATAATAATAATAAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG03130.hp1 HG03516.hp1 others(2): Show HG02647.hp1 HG03130.hp1 HG03516.hp1 HG03579.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0006 a0001c0008t0045 a0001c0008t0046 a0001c0002t0006 a0001c0008t0045 a0001c0008t0046	a0001c0002t0006g0105 a0001c0002t0006g0106 a0001c0002t0006g0107 others(2): Show a0001c0002t0006g0105 a0001c0002t0006g0106 a0001c0002t0006g0107 a0001c0008t0045g0137 a0001c0008t0046g0086	5	412	0.0121	-15	c.75 others(26): Show c.7597_*7611delAATAATAATAATAAT		MAB21L3	ENSG00000173212.5	transcript	ENST00000369500.4	protein_coding					2813		chr1	TogoVar
MACC1_chr7_20129655_20222384	20138152	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03041.hp1 NA20129.hp2 HG03041.hp1 NA20129.hp2	a0010 a0010	a0010c0009 a0010c0009	a0010c0009t0028 a0010c0009t0028	a0010c0009t0028g0031 a0010c0009t0028g0251 a0010c0009t0028g0031 a0010c0009t0028g0251	2	316	0.0063	-15	c.27 others(26): Show c.2779_*2793delTTTTTTTTTTTTTTT		MACC1	ENSG00000183742.13	transcript	ENST00000400331.10	protein_coding	7/7				2779		chr7	TogoVar
MACF1_chr1_39199695_39492138	39217240	CTATTTTA others(8): Show CTATTTTATTTTATTT	C C	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG04204.hp1 HG01981.hp1 HG04204.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0005 a0001c0001 a0006c0005	a0001c0001t0001 a0006c0005t0001 a0001c0001t0001 a0006c0005t0001	a0001c0001t0001g0048 a0006c0005t0001g0236 a0001c0001t0001g0048 a0006c0005t0001g0236	2	246	0.0081	-15	c.109 others(34): Show c.109+12147_109+12161delTTTTATTTTATTTTA		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	1/100					INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39360009	AAAAATAT others(8): Show AAAAATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02109.hp2 HG02280.hp1 others(1): Show HG02055.hp2 HG02109.hp2 HG02280.hp1 HG06807.hp1	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0003 a0004c0011t0003	a0004c0011t0003g0167 a0004c0011t0003g0169 a0004c0011t0003g0170 others(1): Show a0004c0011t0003g0167 a0004c0011t0003g0169 a0004c0011t0003g0170 a0004c0011t0003g0171	4	246	0.0163	-15	c.122 others(34): Show c.12244+747_12244+761delAAATATATATATATA		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	47/100					INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39360013	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02155.hp2 HG02647.hp1 HG02723.hp1 others(3): Show HG02155.hp2 HG02647.hp1 HG02723.hp1 HG02809.hp2 HG03486.hp2 NA18969.hp1	a0002 a0031 a0002 a0031	a0002c0003 a0002c0004 a0002c0024 others(1): Show a0002c0003 a0002c0004 a0002c0024 a0031c0059	a0002c0003t0002 a0002c0004t0001 a0002c0024t0001 others(1): Show a0002c0003t0002 a0002c0004t0001 a0002c0024t0001 a0031c0059t0002	a0002c0003t0002g0182 a0002c0004t0001g0196 a0002c0004t0001g0197 others(3): Show a0002c0003t0002g0182 a0002c0004t0001g0196 a0002c0004t0001g0197 a0002c0004t0001g0223 a0002c0024t0001g0203 a0031c0059t0002g0177	6	246	0.0244	-15	c.122 others(34): Show c.12244+750_12244+764delTATATATATATATAT		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	47/100						chr1	TogoVar
MACF1_chr1_39199695_39492138	39403078	GTTGTTTT others(8): Show GTTGTTTTGTTTTGTT	G G	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02109.hp1 HG02572.hp2 others(6): Show HG01243.hp2 HG02109.hp1 HG02572.hp2 HG03453.hp2 NA18522.hp2 NA18953.hp2 NA18988.hp2 NA19030.hp1 NA20129.hp2	a0002 a0013 a0015 others(3): Show a0002 a0013 a0015 a0026 a0036 a0037	a0002c0003 a0013c0023 a0015c0022 others(3): Show a0002c0003 a0013c0023 a0015c0022 a0026c0049 a0036c0048 a0037c0058	a0002c0003t0001 a0013c0023t0001 a0015c0022t0001 others(3): Show a0002c0003t0001 a0013c0023t0001 a0015c0022t0001 a0026c0049t0001 a0036c0048t0001 a0037c0058t0001	a0002c0003t0001g0186 a0002c0003t0001g0187 a0013c0023t0001g0003 others(6): Show a0002c0003t0001g0186 a0002c0003t0001g0187 a0013c0023t0001g0003 a0013c0023t0001g0004 a0015c0022t0001g0005 a0015c0022t0001g0007 a0026c0049t0001g0002 a0036c0048t0001g0008 a0037c0058t0001g0245	9	246	0.0366	-15	c.158 others(38): Show c.15816+14444_15816+14458delTTTTGTTTTGTTTTG		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	58/100					INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39439984	ATAGATGG others(8): Show ATAGATGGTAGAAAAT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp1 HG01081.hp1 others(23): Show HG00438.hp2 HG00597.hp1 HG01081.hp1 HG01167.hp2 HG01346.hp2 HG02040.hp2 HG02071.hp1 HG02132.hp2 HG02155.hp2 HG02165.hp2 NA18953.hp2 NA18962.hp2 NA18966.hp1 NA18969.hp1 NA18981.hp1 NA18983.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp2 NA19002.hp2 NA19011.hp2 NA19080.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA20805.hp2	a0002 a0016 a0027 others(4): Show a0002 a0016 a0027 a0031 a0034 a0035 a0038	a0002c0003 a0002c0015 a0016c0026 others(5): Show a0002c0003 a0002c0015 a0016c0026 a0027c0063 a0031c0059 a0034c0056 a0035c0055 a0038c0054	a0002c0003t0001 a0002c0003t0002 a0002c0015t0002 others(6): Show a0002c0003t0001 a0002c0003t0002 a0002c0015t0002 a0016c0026t0001 a0027c0063t0002 a0031c0059t0002 a0034c0056t0001 a0035c0055t0002 a0038c0054t0002	a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0002g0044 others(23): Show a0002c0003t0001g0186 a0002c0003t0001g0187 a0002c0003t0002g0044 a0002c0003t0002g0093 a0002c0003t0002g0113 a0002c0003t0002g0127 a0002c0003t0002g0180 a0002c0003t0002g0181 a0002c0003t0002g0182 a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0188 a0002c0003t0002g0228 a0002c0003t0002g0230 a0002c0003t0002g0231 a0002c0015t0002g0112 a0002c0015t0002g0172 a0002c0015t0002g0175 a0016c0026t0001g0173 a0016c0026t0001g0174 a0027c0063t0002g0229 a0031c0059t0002g0177 a0034c0056t0001g0176 a0035c0055t0002g0179 a0038c0054t0002g0178	26	246	0.1057	-15	c.184 others(34): Show c.18447+485_18447+499delTAGATGGTAGAAAAT		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	72/100						chr1	TogoVar
MACF1_chr1_39199695_39492138	39488295	CTTTTTTT others(8): Show CTTTTTTTTTTTTTCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00544.hp2 HG00558.hp1 others(37): Show HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp2 HG00642.hp1 HG01081.hp1 HG01106.hp1 HG01167.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp2 HG02071.hp1 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02615.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG03491.hp2 NA18953.hp1 NA18962.hp2 NA18966.hp1 NA18981.hp1 NA18986.hp1 NA18987.hp1 NA18990.hp2 NA18995.hp1 NA19002.hp2 NA19011.hp2 NA19080.hp1 NA19083.hp1 NA19084.hp2 NA19086.hp1 NA19088.hp2 NA20805.hp2	a0001 a0002 a0003 others(12): Show a0001 a0002 a0003 a0005 a0006 a0007 a0014 a0016 a0020 a0022 a0027 a0035 a0037 a0038 a0043	a0001c0001 a0001c0018 a0001c0036 others(15): Show a0001c0001 a0001c0018 a0001c0036 a0002c0003 a0002c0015 a0003c0002 a0005c0008 a0006c0005 a0007c0007 a0014c0021 a0016c0026 a0020c0075 a0022c0072 a0027c0063 a0035c0055 a0037c0058 a0038c0054 a0043c0057	a0001c0001t0002 a0001c0018t0002 a0001c0036t0002 others(16): Show a0001c0001t0002 a0001c0018t0002 a0001c0036t0002 a0002c0003t0002 a0002c0015t0002 a0003c0002t0002 a0005c0008t0001 a0005c0008t0007 a0006c0005t0001 a0007c0007t0002 a0014c0021t0001 a0016c0026t0001 a0020c0075t0001 a0022c0072t0001 a0027c0063t0002 a0035c0055t0002 a0037c0058t0001 a0038c0054t0002 a0043c0057t0001	a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0002g0033 others(37): Show a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0002g0033 a0001c0001t0002g0088 a0001c0018t0002g0036 a0001c0018t0002g0047 a0001c0036t0002g0035 a0002c0003t0002g0093 a0002c0003t0002g0113 a0002c0003t0002g0127 a0002c0003t0002g0180 a0002c0003t0002g0181 a0002c0003t0002g0182 a0002c0003t0002g0183 a0002c0003t0002g0184 a0002c0003t0002g0185 a0002c0003t0002g0188 a0002c0003t0002g0228 a0002c0003t0002g0230 a0002c0003t0002g0231 a0002c0003t0002g0246 a0002c0015t0002g0112 a0002c0015t0002g0172 a0002c0015t0002g0175 a0003c0002t0002g0137 a0005c0008t0001g0207 a0005c0008t0001g0210 a0005c0008t0007g0166 a0006c0005t0001g0237 a0007c0007t0002g0054 a0007c0007t0002g0057 a0014c0021t0001g0226 a0016c0026t0001g0174 a0020c0075t0001g0211 a0022c0072t0001g0209 a0027c0063t0002g0229 a0035c0055t0002g0179 a0037c0058t0001g0245 a0038c0054t0002g0178 a0043c0057t0001g0168	40	246	0.1626	-15	c.25 others(26): Show c.2502_*2516delTTTTTTTTTTTTTCT		MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding					1158		chr1	TogoVar
MACO1_chr1_25425897_25505209	25480930	ATATATAT others(8): Show ATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01069.hp2 HG01071.hp2 HG00408.hp1 HG01069.hp2 HG01071.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0014 a0001c0001t0002 a0001c0001t0014	a0001c0001t0002g0093 a0001c0001t0014g0007 a0001c0001t0002g0093 a0001c0001t0014g0007	3	282	0.0106	-15	c.115 others(34): Show c.1155-3185_1155-3171delTATATATATATATAT		MACO1	ENSG00000204178.11	transcript	ENST00000374343.5	protein_coding	6/10						chr1	TogoVar
MACROD1_chr11_63993558_64171113	63995428	TCAGGTGA others(8): Show TCAGGTGATCCAACCA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp2 HG02622.hp1 HG02630.hp1 others(4): Show HG02280.hp2 HG02622.hp1 HG02630.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp1 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0113 a0001c0002t0001g0114 others(4): Show a0001c0002t0001g0091 a0001c0002t0001g0113 a0001c0002t0001g0114 a0001c0002t0001g0152 a0001c0002t0001g0193 a0001c0002t0001g0195 a0001c0002t0001g0196	7	198	0.0354	-15	c.32 others(26): Show c.3275_*3289delTGGTTGGATCACCTG		MACROD1	ENSG00000133315.12	transcript	ENST00000255681.7	protein_coding					3129		chr11	TogoVar
MACROD2_chr20_13990516_16058197	14417051	TATCTATC others(8): Show TATCTATCTATCTATC	T T	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0022 a0002c0002t0002g0022	1	24	0.0417	-15	c.272 others(34): Show c.272-76412_272-76398delATCTATCTATCTATC		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	3/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14577794	AAAGAGAA others(8): Show AAAGAGAAGAGAAGAG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	24	0.0417	-15	c.301 others(34): Show c.301+84314_301+84328delGAGAAGAGAAGAGAA		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	4/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	14720536	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0003 a0001c0001t0005g0003	1	24	0.0417	-15	c.418 others(34): Show c.418+35597_418+35611delTTTTTTTTTTTTTTT		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	5/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15286512	ACTGGAGG others(8): Show ACTGGAGGTGGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02559.hp2 HG02257.hp2 HG02559.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0002c0002t0001g0018 a0001c0001t0001g0004 a0002c0002t0001g0018	2	24	0.0833	-15	c.540 others(34): Show c.540+56452_540+56466delCTGGAGGTGGGGAGG		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	6/17						chr20	TogoVar
MACROD2_chr20_13990516_16058197	15357798	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01168.hp1 HG01168.hp2 others(8): Show HG01081.hp1 HG01168.hp1 HG01168.hp2 HG02559.hp1 HG02559.hp2 HG03486.hp1 NA18970.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0013 a0002c0002t0001 a0002c0002t0007 a0002c0002t0008 a0002c0002t0010	a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 others(8): Show a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0021 a0001c0001t0002g0015 a0001c0001t0004g0016 a0001c0001t0011g0009 a0001c0001t0013g0006 a0002c0002t0001g0018 a0002c0002t0007g0013 a0002c0002t0008g0023 a0002c0002t0010g0007	11	24	0.4583	-15	c.541 others(34): Show c.541-73596_541-73582delTTTTTTTTTTTTTTT		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	6/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROD2_chr20_13990516_16058197	15577613	GTGCGTGC others(8): Show GTGCGTGCGTACTCCC	G G	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01168.hp1 HG02257.hp2 others(5): Show HG01081.hp2 HG01168.hp1 HG02257.hp2 HG02559.hp1 HG03041.hp2 HG03209.hp1 NA18970.hp2 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0013 a0002c0002t0002 a0002c0002t0008	a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0004g0008 others(5): Show a0001c0001t0001g0004 a0001c0001t0001g0021 a0001c0001t0004g0008 a0001c0001t0004g0016 a0001c0001t0005g0003 a0001c0001t0013g0006 a0002c0002t0002g0022 a0002c0002t0008g0023	8	24	0.3333	-15	c.645 others(34): Show c.645+77793_645+77807delTCCCTGCGTGCGTAC		MACROD2	ENSG00000172264.19	transcript	ENST00000684519.1	protein_coding	8/17					INFO_REALIGN_3_PRIME	chr20	TogoVar
MACROH2A1_chr5_135329381_135404231	135330926	AGTGGACA others(8): Show AGTGGACAGGCCCAGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0033	1	220	0.0046	-15	c.40 others(26): Show c.4035_*4049delACTGGGCCTGTCCAC		MACROH2A1	ENSG00000113648.17	transcript	ENST00000511689.6	protein_coding					3454		chr5	TogoVar
MACROH2A1_chr5_135329381_135404231	135351543	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG02145.hp2 HG02559.hp2 others(3): Show HG01099.hp2 HG02145.hp2 HG02559.hp2 HG02622.hp1 HG03195.hp1 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0002t0002g0025 others(3): Show a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0002t0002g0025 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0149	6	220	0.0273	-15	c.688 others(32): Show c.688+1388_688+1402delAAAAAAAAAAAAAAA		MACROH2A1	ENSG00000113648.17	transcript	ENST00000511689.6	protein_coding	6/8						chr5	TogoVar
MACROH2A1_chr5_135329381_135404231	135387823	GAGAAGGC others(8): Show GAGAAGGCTGAGTCCC	G G	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0108 a0001c0001t0001g0108	1	220	0.0046	-15	c.172 others(32): Show c.172+1084_172+1098delGGGACTCAGCCTTCT		MACROH2A1	ENSG00000113648.17	transcript	ENST00000511689.6	protein_coding	2/8						chr5	TogoVar
MAD1L1_chr7_1810795_2237945	2102288	GCCACTGT others(8): Show GCCACTGTCACCATCA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00280.hp2 others(66): Show HG00099.hp2 HG00140.hp1 HG00280.hp2 HG00408.hp1 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01175.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp2 HG01978.hp1 HG01981.hp1 HG02040.hp2 HG02056.hp2 HG02080.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02735.hp1 HG03239.hp1 HG03239.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp2 NA18612.hp1 NA18940.hp2 NA18942.hp1 NA18948.hp2 NA18952.hp1 NA18954.hp1 NA18967.hp1 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18981.hp2 NA18984.hp1 NA18985.hp1 NA18990.hp2 NA18995.hp1 NA18999.hp1 NA19009.hp2 NA19012.hp1 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19065.hp2 NA19081.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002 a0002c0005 a0002c0009 a0002c0012	a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 others(7): Show a0001c0001t0001 a0001c0001t0008 a0001c0003t0001 a0001c0004t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0010 a0002c0005t0001 a0002c0009t0001 a0002c0012t0001	a0001c0001t0001g0091 a0001c0001t0001g0182 a0001c0001t0001g0217 others(66): Show a0001c0001t0001g0091 a0001c0001t0001g0182 a0001c0001t0001g0217 a0001c0001t0008g0001 a0001c0003t0001g0005 a0001c0003t0001g0036 a0001c0003t0001g0039 a0001c0004t0003g0117 a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0013 a0002c0002t0001g0014 a0002c0002t0001g0016 a0002c0002t0001g0017 a0002c0002t0001g0018 a0002c0002t0001g0019 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0024 a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0037 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0054 a0002c0002t0001g0056 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0060 a0002c0002t0001g0075 a0002c0002t0001g0176 a0002c0002t0002g0002 a0002c0002t0002g0012 a0002c0002t0010g0264 a0002c0005t0001g0086 a0002c0005t0001g0089 a0002c0005t0001g0104 a0002c0005t0001g0110 a0002c0005t0001g0120 a0002c0005t0001g0192 a0002c0005t0001g0196 a0002c0005t0001g0213 a0002c0005t0001g0215 a0002c0009t0001g0096 a0002c0012t0001g0044	69	264	0.2614	-15	c.107 others(36): Show c.1074-32965_1074-32951delTGATGGTGACAGTGG		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	11/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2111788	TGCACACA others(8): Show TGCACACACAGCAAAC	T T	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0256 a0001c0001t0001g0256	1	264	0.0038	-15	c.107 others(36): Show c.1073+37349_1073+37363delGTTTGCTGTGTGTGC		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	11/18						chr7	TogoVar
MAD1L1_chr7_1810795_2237945	2225660	CGTGCTAA others(8): Show CGTGCTAAGTCTTGAT	C C	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	264	0.0038	-15	c.151 others(30): Show c.151-125_151-111delATCAAGACTTAGCAC		MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	3/18						chr7	TogoVar
MAD2L2_chr1_11669480_11686148	11680581	TTGTCGTG others(8): Show TTGTCGTGTGAGCGTG	T T	disruptive_inframe_deletion disruptive_inframe_deletion	MODERATE	HG02451.hp2 HG02451.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0127 a0002c0003t0003g0127	1	430	0.0023	-15	c.6_2 others(19): Show c.6_20delCACGCTCACACGACA	p.Thr others(9): Show p.Thr3_Gln7del	MAD2L2	ENSG00000116670.16	transcript	ENST00000376692.9	protein_coding	2/9	142/1053	6/636	2/211			chr1	TogoVar
MADCAM1_chr19_491486_510343	501485	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA21309.hp2 HG02559.hp2 NA21309.hp2	a0016 a0016	a0016c0029 a0016c0029	a0016c0029t0001 a0016c0029t0001	a0016c0029t0001g0027 a0016c0029t0001g0027	2	364	0.0055	-15	c.668 others(30): Show c.668-166_668-152delAAAAAAAAAAAAAAA		MADCAM1	ENSG00000099866.16	transcript	ENST00000215637.8	protein_coding	3/4					INFO_REALIGN_3_PRIME	chr19	TogoVar
MADD_chr11_47265133_47335031	47318789	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02055.hp2 NA18955.hp2 HG01981.hp1 HG02055.hp2 NA18955.hp2	a0001 a0013 a0001 a0013	a0001c0002 a0013c0014 a0001c0002 a0013c0014	a0001c0002t0001 a0013c0014t0001 a0001c0002t0001 a0013c0014t0001	a0001c0002t0001g0217 a0001c0002t0001g0221 a0013c0014t0001g0227 a0001c0002t0001g0217 a0001c0002t0001g0221 a0013c0014t0001g0227	3	344	0.0087	-15	c.437 others(34): Show c.4377+3484_4377+3498delTTTTTTTTTTTTTTT		MADD	ENSG00000110514.20	transcript	ENST00000706887.1	protein_coding	30/36					INFO_REALIGN_3_PRIME	chr11	TogoVar
MAEA_chr4_1284891_1345137	1296185	ACTGCCCT others(8): Show ACTGCCCTCACCTGTG	A A	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp1 others(118): Show HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18981.hp1 NA18986.hp1 NA18988.hp1 NA18989.hp1 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19067.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0015 a0003c0012	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0003t0001 a0001c0003t0005 a0001c0003t0007 a0001c0003t0010 a0001c0005t0001 a0001c0015t0001 a0003c0012t0001	a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 others(118): Show a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0287 a0001c0001t0006g0251 a0001c0001t0006g0253 a0001c0001t0006g0254 a0001c0001t0012g0187 a0001c0001t0014g0286 a0001c0001t0016g0224 a0001c0002t0001g0172 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0288 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0005g0289 a0001c0003t0007g0279 a0001c0003t0007g0282 a0001c0003t0007g0283 a0001c0003t0010g0174 a0001c0005t0001g0264 a0001c0005t0001g0265 a0001c0015t0001g0217 a0003c0012t0001g0267	121	388	0.3119	-15	c.69+ others(30): Show c.69+6220_69+6234delTGCCCTCACCTGTGC		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEA_chr4_1284891_1345137	1296237	CCCCTCAC others(8): Show CCCCTCACCTGCTCCT	C C	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp2 HG00558.hp1 others(117): Show HG00408.hp1 HG00438.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG01074.hp1 HG01109.hp2 HG01123.hp2 HG01243.hp1 HG01256.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp2 HG01496.hp2 HG01515.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp2 HG02015.hp2 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02165.hp2 HG02258.hp2 HG02273.hp2 HG02300.hp2 HG02451.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp2 HG02965.hp2 HG02970.hp1 HG03017.hp2 HG03098.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04204.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp2 NA18954.hp2 NA18957.hp1 NA18963.hp2 NA18964.hp1 NA18966.hp2 NA18967.hp1 NA18969.hp2 NA18971.hp1 NA18973.hp1 NA18980.hp1 NA18981.hp1 NA18986.hp1 NA18988.hp1 NA18990.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp2 NA19004.hp2 NA19009.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp2 NA19056.hp1 NA19060.hp1 NA19064.hp2 NA19067.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp2 NA19085.hp2 NA19091.hp2 NA19240.hp1 NA20300.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0015 a0003c0012	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0002t0001 a0001c0003t0001 a0001c0003t0005 a0001c0003t0007 a0001c0003t0010 a0001c0005t0001 a0001c0015t0001 a0003c0012t0001	a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 others(117): Show a0001c0001t0001g0173 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0252 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0287 a0001c0001t0006g0251 a0001c0001t0006g0253 a0001c0001t0006g0254 a0001c0001t0012g0187 a0001c0001t0014g0286 a0001c0001t0016g0224 a0001c0002t0001g0172 a0001c0003t0001g0175 a0001c0003t0001g0176 a0001c0003t0001g0273 a0001c0003t0001g0274 a0001c0003t0001g0275 a0001c0003t0001g0276 a0001c0003t0001g0277 a0001c0003t0001g0278 a0001c0003t0001g0280 a0001c0003t0001g0281 a0001c0003t0001g0284 a0001c0003t0001g0285 a0001c0003t0001g0288 a0001c0003t0001g0290 a0001c0003t0001g0291 a0001c0003t0001g0292 a0001c0003t0005g0289 a0001c0003t0007g0279 a0001c0003t0007g0282 a0001c0003t0007g0283 a0001c0003t0010g0174 a0001c0005t0001g0264 a0001c0005t0001g0265 a0001c0015t0001g0217 a0003c0012t0001g0267	120	388	0.3093	-15	c.69+ others(30): Show c.69+6286_69+6300delCCCTCACCTGCTCCT		MAEA	ENSG00000090316.16	transcript	ENST00000303400.9	protein_coding	1/8					INFO_REALIGN_3_PRIME	chr4	TogoVar
MAEL_chr1_166984280_167027214	167006624	TATATATA others(8): Show TATATATATATATACA	T T	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG01081.hp1 HG01099.hp2 others(9): Show HG00323.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01175.hp1 HG01981.hp2 HG02257.hp1 HG02886.hp1 HG03669.hp1 HG04199.hp2 HG04204.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0020 a0001c0001t0001g0043 a0001c0001t0001g0187 others(6): Show a0001c0001t0001g0020 a0001c0001t0001g0043 a0001c0001t0001g0187 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0002c0002t0001g0241	12	408	0.0294	-15	c.845 others(32): Show c.845+1228_845+1242delATATATATATATACA		MAEL	ENSG00000143194.13	transcript	ENST00000367872.9	protein_coding	8/11						chr1	TogoVar

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