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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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	status	chr	external
KRTAP2-2_chr17_41049498_41060230	41054804	GGACTGCA others(68): Show GGACTGCACAGACACAGGCTGGCAGCAGGTGGTGGCTCAGCAGGAGGAGG TCCTGCAGGTGGTGCTGCAAGGGGTC	G G	stop_lost others(1): Show stop_lost conservative_inframe_deletion	HIGH	HG03579.hp1 HG03579.hp1	a0000 a0000	a0000c0017 a0000c0017	a0000c0017t0007 a0000c0017t0007	a0000c0017t0007g0000 a0000c0017t0007g0000	1	411	0.0024	-75	c.333 others(82): Show c.333_*35delGACCCCTTGCAGCACCACCTGCAGGACCTCCTCCTGCT GAGCCACCACCTGCTGCCAGCCTGTGTCTGTGCAGTC	p.Pro others(19): Show p.Pro111_Ter124delins???	KRTAP2-2	ENSG00000214518.4	transcript	ENST00000398477.1	protein_coding	1/1	426/733	333/372	111/123		chr17	TogoVar
KRTAP4-11_chr17_41112181_41123373	41117934	CAGACTGG others(98): Show CAGACTGGCAGCACTGGGGTCTGCAGCAGCTGGACACACAGCAGCTGGGG CGACAGCAGCTGGAGATGCAGCATCTGGGGCGGCAGCAAGTGGGCTGGCA GCACAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00323.hp2 HG00423.hp2 HG00597.hp2 others(54): Show HG00323.hp2 HG00423.hp2 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00738.hp2 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01928.hp2 HG01975.hp1 HG02004.hp1 HG02055.hp2 HG02074.hp2 HG02132.hp1 HG02135.hp2 HG02293.hp1 HG02451.hp2 HG02523.hp1 HG02559.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp2 HG03540.hp2 NA18747.hp2 NA18941.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18952.hp1 NA18959.hp1 NA18960.hp1 NA18966.hp1 NA18967.hp2 NA18981.hp2 NA18986.hp1 NA18997.hp2 NA18998.hp2 NA19005.hp2 NA19006.hp1 NA19056.hp2 NA19062.hp1 NA19064.hp1 NA19070.hp1 NA19080.hp2 NA19082.hp1 NA19085.hp1 NA19089.hp1 NA20129.hp1	a0003 a0007 a0008 others(1): Show a0003 a0007 a0008 a0010	a0003c0004 a0007c0008 a0008c0009 others(1): Show a0003c0004 a0007c0008 a0008c0009 a0010c0011	a0003c0004t0002 a0007c0008t0003 a0007c0008t0006 others(2): Show a0003c0004t0002 a0007c0008t0003 a0007c0008t0006 a0008c0009t0005 a0010c0011t0002	a0003c0004t0002g0000 a0007c0008t0003g0000 a0007c0008t0006g0000 others(2): Show a0003c0004t0002g0000 a0007c0008t0003g0000 a0007c0008t0006g0000 a0008c0009t0005g0000 a0010c0011t0002g0000	57	427	0.1335	-105	c.277 others(7): Show c.277_381del	p.Met others(12): Show p.Met93_Ser127del	KRTAP4-11	ENSG00000212721.4	transcript	ENST00000391413.4	protein_coding	1/1	439/1193	277/588	93/195		chr17	TogoVar
KRTAP4-4_chr17_41154649_41165748	41160598	TGCAGCAG others(8): Show TGCAGCAGGTGGTCTG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01361.hp1 HG01361.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0001 a0010c0010t0001	a0010c0010t0001g0000 a0010c0010t0001g0000	1	420	0.0024	-15	c.79_ others(20): Show c.79_93delCAGACCACCTGCTGC	p.Gln others(11): Show p.Gln27_Cys31del	KRTAP4-4	ENSG00000171396.12	transcript	ENST00000390661.5	protein_coding	1/1	150/1100	79/501	27/166		chr17	TogoVar
KRTAP5-11_chr11_71576855_71587875	71582738	TGGAGCCA others(35): Show TGGAGCCACAGCCCCCACAGCCAGAGCCACAGCCCCCACTGCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00621.hp1 HG01167.hp2 HG01169.hp2 others(23): Show HG00621.hp1 HG01167.hp2 HG01169.hp2 HG01243.hp2 HG01515.hp2 HG01884.hp1 HG02145.hp2 HG02148.hp2 HG02280.hp2 HG02300.hp2 HG02559.hp2 HG02572.hp2 HG02622.hp2 HG02717.hp2 HG02723.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03453.hp2 HG03471.hp2 HG03540.hp2 HG03579.hp2 NA19043.hp2 NA20129.hp2 NA20752.hp2 NA21309.hp2	a0002 a0004 a0002 a0004	a0002c0002 a0004c0004 a0002c0002 a0004c0004	a0002c0002t0002 a0002c0002t0003 a0004c0004t0003 a0002c0002t0002 a0002c0002t0003 a0004c0004t0003	a0002c0002t0002g0000 a0002c0002t0003g0000 a0004c0004t0003g0000 a0002c0002t0002g0000 a0002c0002t0003g0000 a0004c0004t0003g0000	26	464	0.0560	-42	c.58_ others(47): Show c.58_99delGGCAGTGGGGGCTGTGGCTCTGGCTGTGGGGGCTGTGGCT CC	p.Gly others(11): Show p.Gly20_Ser33del	KRTAP5-11	ENSG00000204571.7	transcript	ENST00000398530.1	protein_coding	1/1	137/1021	58/471	20/156		chr11	TogoVar
KRTAP5-3_chr11_1602565_1613463	1608307	CGGAGCCA others(14): Show CGGAGCCACAGCCCCCACAGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA20129.hp2 NA20129.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0001 a0005c0011t0001	a0005c0011t0001g0000 a0005c0011t0001g0000	1	427	0.0023	-21	c.58_ others(26): Show c.58_78delAGCTGTGGGGGCTGTGGCTCC	p.Ser others(11): Show p.Ser20_Ser26del	KRTAP5-3	ENSG00000196224.7	transcript	ENST00000399685.1	protein_coding	1/1	156/899	58/717	20/238		chr11	TogoVar
KRTAP5-8_chr11_71533025_71544209	71538425	AGCTGCTC others(80): Show AGCTGCTCTTCAGGCTGTGGGTCATCCTGCTGCCAGTCCAGCTGCTGCAA GCCCTGCTGTTCCCAGTCCAGCTGCTGTAAGCCCTGCT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00621.hp1 HG02015.hp2 HG02071.hp2 others(8): Show HG00621.hp1 HG02015.hp2 HG02071.hp2 HG02129.hp1 NA18939.hp1 NA18952.hp2 NA19054.hp1 NA19055.hp2 NA19075.hp1 NA19080.hp1 NA19088.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0000 a0006c0005t0001g0000	11	442	0.0249	-87	c.448 others(94): Show c.448_534delAAGCCCTGCTGCTGCTCTTCAGGCTGTGGGTCATCCTG CTGCCAGTCCAGCTGCTGCAAGCCCTGCTGTTCCCAGTCCAGCTGCTGT	p.Lys others(13): Show p.Lys150_Cys178del	KRTAP5-8	ENSG00000241233.4	transcript	ENST00000398534.4	protein_coding	1/1	479/1185	448/564	150/187	INFO_REALIGN_3_PRIME	chr11	TogoVar
KTI12_chr1_52027103_52038810	52033398	CGCCCGCC others(20): Show CGCCCGCCACCTGAGGTCCCGCGATCGG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG01175.hp1 HG02698.hp1 others(8): Show HG00099.hp1 HG01175.hp1 HG02698.hp1 HG02735.hp1 HG02738.hp2 HG02896.hp1 HG04199.hp1 NA19011.hp1 NA19083.hp2 NA20300.hp1 NA20905.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	11	318	0.0346	-27	c.337 others(34): Show c.337_363delCCGATCGCGGGACCTCAGGTGGCGGGC	p.Pro others(13): Show p.Pro113_Gly121del	KTI12	ENSG00000198841.4	transcript	ENST00000371614.2	protein_coding	1/1	412/1708	337/1065	113/354		chr1	TogoVar
LCE1D_chr1_152791721_152803181	152797831	CCTCCCAA others(5): Show CCTCCCAAGTGCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02572.hp1 HG03041.hp1 HG03579.hp1 others(1): Show HG02572.hp1 HG03041.hp1 HG03579.hp1 NA18906.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0004 a0005c0006t0001g0004	4	380	0.0105	-12	c.61_ others(17): Show c.61_72delACTCCCAAGTGC	p.Thr others(11): Show p.Thr21_Cys24del	LCE1D	ENSG00000172155.10	transcript	ENST00000326233.7	protein_coding	2/2	134/460	61/345	21/114	INFO_REALIGN_3_PRIME	chr1	TogoVar
LCE1F_chr1_152770140_152782024	152776437	CAAGTGCC others(8): Show CAAGTGCCCCACACCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02572.hp1 HG03041.hp1 HG03579.hp2 others(1): Show HG02572.hp1 HG03041.hp1 HG03579.hp2 NA18906.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0007 a0005c0005t0001g0007	4	438	0.0091	-15	c.76_ others(20): Show c.76_90delACACCGAAGTGCCCC	p.Thr others(11): Show p.Thr26_Pro30del	LCE1F	ENSG00000240386.4	transcript	ENST00000334371.4	protein_coding	2/2	149/726	76/357	26/118	INFO_REALIGN_3_PRIME	chr1	TogoVar
LCE2C_chr1_152670279_152681569	152676153	TTGCTGTG others(17): Show TTGCTGTGGTCCCAGCTCTGGGAGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03130.hp1 HG03130.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0001 a0003c0007t0001g0001	1	426	0.0024	-24	c.160 others(31): Show c.160_183delAGCTGCTGTGGTCCCAGCTCTGGG	p.Ser others(11): Show p.Ser54_Gly61del	LCE2C	ENSG00000187180.4	transcript	ENST00000368783.2	protein_coding	2/2	231/625	160/333	54/110	INFO_REALIGN_3_PRIME	chr1	TogoVar
LIAT1_chr17_405325_419666	413464	CGACCCCG others(233): Show CGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCGACGCCCTCAAGG GCTTCCACCCCGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCGAG GCCCTCAAGGGCATCCACCCCGACCCCGAGGCTCTCAAGGGCTTCCACCC CGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCTGAGGCCCTCAAGG GTTTCCACACTGACCCCGAGGCCCTCAAGGGTTTCCACATT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01081.hp1 HG02683.hp2 HG03491.hp2 others(3): Show HG01081.hp1 HG02683.hp2 HG03491.hp2 HG03492.hp1 NA18906.hp2 NA20805.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0002 a0009c0010t0001 a0009c0010t0002	a0009c0010t0001g0008 a0009c0010t0002g0008 a0009c0010t0001g0008 a0009c0010t0002g0008	6	434	0.0138	-240	c.658 others(7): Show c.658_897del	p.Asp others(13): Show p.Asp220_Pro299del	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	676/1841	658/1272	220/423	INFO_REALIGN_3_PRIME	chr17	TogoVar
LIAT1_chr17_405325_419666	413536	CCTCAAGG others(53): Show CCTCAAGGGCTTCCACCCCGACCCCGAGGCCCTCAAGGGCATCCACCCCG ACCCCGAGGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02055.hp2 HG03540.hp1 NA18906.hp1 HG02055.hp2 HG03540.hp1 NA18906.hp1	a0017 a0017	a0017c0014 a0017c0014	a0017c0014t0001 a0017c0014t0001	a0017c0014t0001g0014 a0017c0014t0001g0028 a0017c0014t0001g0014 a0017c0014t0001g0028	3	434	0.0069	-60	c.733 others(67): Show c.733_792delATCCACCCCGACCCCGAGGCTCTCAAGGGCTTCCACCC CGACCCCGAGGCCCTCAAGGGC	p.Ile others(13): Show p.Ile245_Gly264del	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	751/1841	733/1272	245/423	INFO_REALIGN_3_PRIME	chr17	TogoVar
LIAT1_chr17_405325_419666	413566	CCTCAAGG others(23): Show CCTCAAGGGCATCCACCCCGACCCCGAGGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03130.hp1 HG03130.hp1	a0038 a0038	a0038c0030 a0038c0030	a0038c0030t0003 a0038c0030t0003	a0038c0030t0003g0002 a0038c0030t0003g0002	1	434	0.0023	-30	c.733 others(37): Show c.733_762delATCCACCCCGACCCCGAGGCTCTCAAGGGC	p.Ile others(13): Show p.Ile245_Gly254del	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	751/1841	733/1272	245/423	INFO_REALIGN_3_PRIME	chr17	TogoVar
LIAT1_chr17_405325_419666	413794	TGACCCCG others(53): Show TGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGG GCTTCCACCCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02055.hp2 HG03540.hp1 NA18906.hp1 HG02055.hp2 HG03540.hp1 NA18906.hp1	a0017 a0017	a0017c0014 a0017c0014	a0017c0014t0001 a0017c0014t0001	a0017c0014t0001g0014 a0017c0014t0001g0028 a0017c0014t0001g0014 a0017c0014t0001g0028	3	434	0.0069	-60	c.988 others(68): Show c.988_1047delAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGGCCC TCAAGGGCTTCCACCCCGACCCC	p.Lys others(13): Show p.Lys330_Pro349del	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	1006/1841	988/1272	330/423	INFO_REALIGN_3_PRIME	chr17	TogoVar
LIAT1_chr17_405325_419666	413801	GAGGCCCT others(23): Show GAGGCCCTCAAGGGCTTCCACCCCGACCCCA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG04115.hp1 HG04115.hp1	a0029 a0029	a0029c0039 a0029c0039	a0029c0039t0001 a0029c0039t0001	a0029c0039t0001g0003 a0029c0039t0001g0003	1	434	0.0023	-30	c.988 others(38): Show c.988_1017delAAGGCCCTCAAGGGCTTCCACCCCGACCCC	p.Lys others(13): Show p.Lys330_Pro339del	LIAT1	ENSG00000187624.9	transcript	ENST00000360127.7	protein_coding	2/2	1006/1841	988/1272	330/423	INFO_REALIGN_3_PRIME	chr17	TogoVar
LIG1_chr19_48110445_48175344	48115647	GCTTAGTA others(56): Show GCTTAGTAGGTATCTTCAGGGTCAGAGCCTGAGTCCTCGCCTTGTTGGTT CTGAATCTGACTTT	G G	stop_lost others(1): Show stop_lost conservative_inframe_deletion	HIGH	NA18985.hp1 NA18985.hp1	a0000 a0000	a0000c0013 a0000c0013	a0000c0013t0007 a0000c0013t0007	a0000c0013t0007g0182 a0000c0013t0007g0182	1	330	0.0030	-63	c.269 others(70): Show c.2699_*1delAAAGTCAGATTCAGAACCAACAAGGCGAGGACTCAGGC TCTGACCCTGAAGATACCTACTAAG	p.Gln others(19): Show p.Gln900_Ter920delins???	LIG1	ENSG00000105486.15	transcript	ENST00000263274.12	protein_coding	28/28	2922/3125	2699/2760	900/919		chr19	TogoVar
LOC647264_chr13_63827361_63838053	63832879	CAGAGCCA others(17): Show CAGAGCCATAGCCACAGCCATAGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19240.hp2 NA19240.hp2	a0002 a0002	a0002c0010 a0002c0010	a0002c0010t0003 a0002c0010t0003	a0002c0010t0003g0000 a0002c0010t0003g0000	1	442	0.0023	-24	c.91_ others(30): Show c.91_114delAGCTATGGCTGTGGCTATGGCTCT	p.Ser others(11): Show p.Ser31_Ser38del	LOC647264	ENSG00000285566.2	transcript	ENST00000648713.2	protein_coding	1/1	174/693	91/330	31/109		chr13	TogoVar
LPIN1_chr2_11741632_11832409	11782200	GTCT GTCT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01167.hp2 HG02055.hp2 HG02280.hp1 others(3): Show HG01167.hp2 HG02055.hp2 HG02280.hp1 HG03209.hp2 NA18906.hp1 NA19030.hp2	a0002 a0002	a0002c0007 a0002c0009 a0002c0010 a0002c0007 a0002c0009 a0002c0010	a0002c0007t0011 a0002c0007t0034 a0002c0007t0035 others(2): Show a0002c0007t0011 a0002c0007t0034 a0002c0007t0035 a0002c0009t0002 a0002c0010t0005	a0002c0007t0011g0025 a0002c0007t0034g0023 a0002c0007t0035g0024 others(3): Show a0002c0007t0011g0025 a0002c0007t0034g0023 a0002c0007t0035g0024 a0002c0009t0002g0022 a0002c0009t0002g0047 a0002c0010t0005g0008	6	278	0.0216	-3	c.964 others(10): Show c.964_966delTCT	p.Ser others(6): Show p.Ser322del	LPIN1	ENSG00000134324.12	transcript	ENST00000674199.1	protein_coding	8/21	1013/5448	964/2781	322/926	INFO_REALIGN_3_PRIME	chr2	TogoVar
LRP5_chr11_68307591_68454275	68386386	CACCGACA others(5): Show CACCGACATCGTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19091.hp2 NA19091.hp2	a0011 a0011	a0011c0044 a0011c0044	a0011c0044t0001 a0011c0044t0001	a0011c0044t0001g0140 a0011c0044t0001g0140	1	212	0.0047	-12	c.108 others(21): Show c.1087_1098delACCGACATCGTG	p.Thr others(13): Show p.Thr363_Val366del	LRP5	ENSG00000162337.12	transcript	ENST00000294304.12	protein_coding	6/23	1211/5177	1087/4848	363/1615		chr11	TogoVar
LRRC17_chr7_102908000_102950111	102934552	TGAA TGAA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp2 HG00280.hp1 HG00280.hp2 others(192): Show HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp2 HG00597.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01928.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02080.hp2 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02602.hp1 HG02615.hp2 HG02622.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18949.hp1 NA18950.hp2 NA18951.hp1 NA18955.hp2 NA18957.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18963.hp1 NA18965.hp2 NA18966.hp2 NA18969.hp1 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18975.hp1 NA18981.hp1 NA18983.hp2 NA18985.hp1 NA18989.hp1 NA18992.hp1 NA18993.hp2 NA18997.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19001.hp1 NA19004.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp2 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp1 NA19070.hp1 NA19072.hp1 NA19077.hp1 NA19078.hp2 NA19080.hp2 NA19081.hp1 NA19084.hp1 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19090.hp1 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0006 a0009 others(1): Show a0001 a0006 a0009 a0010	a0001c0001 a0001c0009 a0006c0007 others(2): Show a0001c0001 a0001c0009 a0006c0007 a0009c0012 a0010c0011	a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0009t0001 a0006c0007t0001 a0009c0012t0001 a0010c0011t0001	a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 others(105): Show a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 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 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0152 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0201 a0001c0001t0003g0010 a0001c0001t0003g0051 a0001c0001t0003g0056 a0001c0001t0003g0070 a0001c0009t0001g0006 a0006c0007t0001g0026 a0009c0012t0001g0144 a0010c0011t0001g0150	195	398	0.4900	-3	c.646 others(10): Show c.646_648delGAA	p.Glu others(6): Show p.Glu216del	LRRC17	ENSG00000128606.13	transcript	ENST00000339431.9	protein_coding	2/4	932/2116	646/1326	216/441	INFO_REALIGN_3_PRIME	chr7	TogoVar
LRRC46_chr17_47826670_47842719	47836758	AAGGAGCT others(5): Show AAGGAGCTGGAGC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01069.hp2 HG01071.hp2 HG01106.hp1 others(15): Show HG01069.hp2 HG01071.hp2 HG01106.hp1 HG01891.hp2 HG02486.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02896.hp1 HG03041.hp1 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0005 a0002c0002t0001 a0002c0002t0005	a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0012 others(3): Show a0002c0002t0001g0008 a0002c0002t0001g0010 a0002c0002t0001g0012 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0005g0012	18	392	0.0459	-12	c.613 others(19): Show c.613_624delGAGCAGGAGCTG	p.Glu others(13): Show p.Glu205_Leu208del	LRRC46	ENSG00000141294.10	transcript	ENST00000269025.9	protein_coding	8/8	933/1885	613/966	205/321	INFO_REALIGN_3_PRIME	chr17	TogoVar
LSM7_chr19_2316521_2333586	2328544	TTCCGCCG others(33): Show TTCCGCCGCGCGCTCACCGCCATCTTGTCGCGCCGTGTGGC	T T	start_lost others(2): Show start_lost conservative_inframe_deletion splice_region_variant	HIGH	HG03492.hp1 HG03492.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0061 a0002c0003t0003g0061	1	436	0.0023	-40	c.-18 others(48): Show c.-18_6+16delGCCACACGGCGCGACAAGATGGCGGTGAGCGCGCGGC GGA	p.Met others(9): Show p.Met1_Ala2del	LSM7	ENSG00000130332.15	transcript	ENST00000252622.15	protein_coding	1/4		1/312	1/103		chr19	TogoVar
LTBP3_chr11_65533559_65563359	65557854	CCAGCAGC others(2): Show CCAGCAGCAG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02258.hp2 HG02280.hp1 HG02572.hp2 others(4): Show HG02258.hp2 HG02280.hp1 HG02572.hp2 HG02647.hp1 HG03041.hp1 HG03139.hp2 HG03225.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0002 a0005c0006t0001 a0005c0006t0002	a0005c0006t0001g0228 a0005c0006t0002g0222 a0005c0006t0002g0223 others(4): Show a0005c0006t0001g0228 a0005c0006t0002g0222 a0005c0006t0002g0223 a0005c0006t0002g0224 a0005c0006t0002g0225 a0005c0006t0002g0226 a0005c0006t0002g0227	7	316	0.0222	-9	c.97_ others(15): Show c.97_105delCTGCTGCTG	p.Leu others(11): Show p.Leu33_Leu35del	LTBP3	ENSG00000168056.18	transcript	ENST00000301873.11	protein_coding	1/28	505/4833	97/3912	33/1303		chr11	TogoVar
LTBR_chr12_6379162_6396566	6390676	TGTCACCG others(35): Show TGTCACCGGCGGGTCTATGACTATCACTGGCAACATCTACATC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18983.hp2 NA18983.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0005 a0004c0008t0005	a0004c0008t0005g0003 a0004c0008t0005g0003	1	452	0.0022	-42	c.104 others(51): Show c.1048_1089delGTCACCGGCGGGTCTATGACTATCACTGGCAACATC TACATC	p.Val others(13): Show p.Val350_Ile363del	LTBR	ENSG00000111321.11	transcript	ENST00000228918.9	protein_coding	10/10	1245/2134	1048/1308	350/435		chr12	TogoVar
LY6H_chr8_143152916_143165321	143158459	TCTTGTTC others(5): Show TCTTGTTCACCGA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19066.hp2 NA19066.hp2	a0000 a0000	a0000c0006 a0000c0006	a0000c0006t0001 a0000c0006t0001	a0000c0006t0001g0021 a0000c0006t0001g0021	1	443	0.0023	-12	c.265 others(19): Show c.265_276delTCGGTGAACAAG	p.Ser others(11): Show p.Ser89_Lys92del	LY6H	ENSG00000176956.13	transcript	ENST00000342752.9	protein_coding	4/4	398/942	265/486	89/161		chr8	TogoVar
MAFA_chr8_143423064_143435732	143429938	GGTGGTGC others(5): Show GGTGGTGCGCGCC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02109.hp2 HG02109.hp2	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0006 a0009c0013t0006	a0009c0013t0006g0000 a0009c0013t0006g0000	1	446	0.0022	-12	c.457 others(19): Show c.457_468delGGCGCGCACCAC	p.Gly others(13): Show p.Gly153_His156del	MAFA	ENSG00000182759.4	transcript	ENST00000333480.3	protein_coding	1/1	794/2669	457/1062	153/353		chr8	TogoVar
MAGEA8_chrX_149876183_149890825	149884267	GTCA GTCA	G G	start_lost others(1): Show start_lost conservative_inframe_deletion	HIGH	HG01346.hp1 HG01346.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0013 a0001c0001t0007g0013	1	287	0.0035	-3	c.-1_ others(7): Show c.-1_2delCAT	p.Met others(4): Show p.Met1del	MAGEA8	ENSG00000156009.10	transcript	ENST00000286482.6	protein_coding	3/3	228/1781	1/957	1/318	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEB1_chrX_30242146_30257040	30251149	AGATCTGG others(53): Show AGATCTGGAAATTCATGAATGTGTTGGGAGCCTATGATGGAGAGGAGCAC TTAATCTATGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19076.hp1 NA19076.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0009 a0005c0006t0009	a0005c0006t0009g0030 a0005c0006t0009g0030	1	338	0.0030	-60	c.658 others(67): Show c.658_717delATCTGGAAATTCATGAATGTGTTGGGAGCCTATGATGG AGAGGAGCACTTAATCTATGGG	p.Ile others(13): Show p.Ile220_Gly239del	MAGEB1	ENSG00000214107.9	transcript	ENST00000397548.4	protein_coding	2/2	829/1718	658/1044	220/347	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141905825	TTGAGTAT others(98): Show TTGAGTATTTTCCAGAGTTCCCCTGAGAGTACTCAAAGTCCTTTTGAGGG TTTTCCCCAGTCTGTTCTCCAGATTCCTGTGAGCGCCGCCTCCTCCTCCA CTTTAG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19009.hp1 NA19009.hp1	a0071 a0071	a0071c0073 a0071c0073	a0071c0073t0001 a0071c0073t0001	a0071c0073t0001g0001 a0071c0073t0001g0001	1	359	0.0028	-105	c.484 others(7): Show c.484_588del	p.Val others(13): Show p.Val162_Ser196del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	770/4256	484/3429	162/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906015	GCTCCTTC others(203): Show GCTCCTTCTCCTCCACTTTATTGAGTATTTTCCAGAGTTCCCCTGAGAGA ACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTCCTCTCCAGATTCCTGT GAGCCCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTG AGAGAACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATT CCTGTGAGCCC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA20805.hp1 NA20805.hp1	a0176 a0176	a0176c0081 a0176c0081	a0176c0081t0001 a0176c0081t0001	a0176c0081t0001g0001 a0176c0081t0001g0001	1	359	0.0028	-210	c.631 others(7): Show c.631_840del	p.Leu others(13): Show p.Leu211_Leu280del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	917/4256	631/3429	211/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906041	ATTTTCCA others(203): Show ATTTTCCAGAGTTCCCCTGAGAGAACTCAGAGTACTTTTGAGGGTTTTGC CCAGTCTCCTCTCCAGATTCCTGTGAGCCCCTCCTCCTCCTCCACTTTAC TGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAGAGTACTTTTGAGGGT TTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCCCTCCTTCTCCTCCAC TTTAGTGAGTC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03239.hp1 HG03239.hp1	a0175 a0175	a0175c0083 a0175c0083	a0175c0083t0001 a0175c0083t0001	a0175c0083t0001g0001 a0175c0083t0001g0001	1	359	0.0028	-210	c.685 others(7): Show c.685_894del	p.Ala others(13): Show p.Ala229_Phe298del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	971/4256	685/3429	229/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906119	CCCTCCTC others(203): Show CCCTCCTCCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAG AACTCAGAGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTG TGAGCCCCTCCTTCTCCTCCACTTTAGTGAGTCTTTTCCAGAGTTCCCCT GAGAGAACTCAGAGTACTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGAT TCCTGTGAGCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18950.hp1 NA18950.hp1	a0165 a0165	a0165c0099 a0165c0099	a0165c0099t0001 a0165c0099t0001	a0165c0099t0001g0001 a0165c0099t0001g0001	1	359	0.0028	-210	c.736 others(7): Show c.736_945del	p.Leu others(13): Show p.Leu246_Leu315del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1022/4256	736/3429	246/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906126	CCTCCTCC others(98): Show CCTCCTCCACTTTACTGAGTCTTTTCCAGAGTTTCTCTGAGAGAACTCAG AGTACTTTTGAGGGTTTTGCCCAGTCTTCTCTCCAGATTCCTGTGAGCCC CTCCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02027.hp1 HG02027.hp1	a0171 a0171	a0171c0090 a0171c0090	a0171c0090t0001 a0171c0090t0001	a0171c0090t0001g0001 a0171c0090t0001g0001	1	359	0.0028	-105	c.736 others(7): Show c.736_840del	p.Leu others(13): Show p.Leu246_Leu280del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1022/4256	736/3429	246/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906700	AAGTGCTT others(98): Show AAGTGCTTTTGAGGGTTTTCCCCAGTCTCCTCTCCAGATTCCTGTGAGCT CCTCTTTCTCCTACACTTTATTGAGTCTTTTCCAGAGTTCCCCTGAGAGA ACTCAC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02257.hp2 HG02257.hp2	a0131 a0131	a0131c0166 a0131c0166	a0131c0166t0001 a0131c0166t0001	a0131c0166t0001g0001 a0131c0166t0001g0001	1	359	0.0028	-105	c.130 others(9): Show c.1300_1404del	p.Ala others(13): Show p.Ala434_Ser468del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1586/4256	1300/3429	434/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAGEC1_chrX_141898894_141914374	141906852	GCTC GCTC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02257.hp2 HG02257.hp2	a0131 a0131	a0131c0166 a0131c0166	a0131c0166t0001 a0131c0166t0001	a0131c0166t0001g0001 a0131c0166t0001g0001	1	359	0.0028	-3	c.146 others(12): Show c.1465_1467delTCC	p.Ser others(6): Show p.Ser489del	MAGEC1	ENSG00000155495.9	transcript	ENST00000285879.5	protein_coding	4/4	1751/4256	1465/3429	489/1142	INFO_REALIGN_3_PRIME	chrX	TogoVar
MAMDC2_chr9_70038848_70231972	70140212	TAAA TAAA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00438.hp2 HG00597.hp1 others(50): Show HG00099.hp1 HG00438.hp2 HG00597.hp1 HG00673.hp2 HG00733.hp2 HG01167.hp2 HG01169.hp2 HG01358.hp1 HG02056.hp1 HG02080.hp1 HG02132.hp1 HG02523.hp2 HG02602.hp2 HG03490.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp1 NA18940.hp1 NA18941.hp2 NA18943.hp1 NA18947.hp2 NA18949.hp2 NA18950.hp2 NA18953.hp1 NA18962.hp1 NA18963.hp2 NA18967.hp1 NA18968.hp2 NA18969.hp1 NA18972.hp2 NA18979.hp2 NA18986.hp2 NA18991.hp2 NA18992.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19012.hp2 NA19056.hp2 NA19060.hp1 NA19077.hp2 NA19087.hp1 NA19088.hp2 NA19091.hp1	a0002 a0008 a0009 others(2): Show a0002 a0008 a0009 a0011 a0012	a0002c0002 a0002c0008 a0002c0025 others(4): Show a0002c0002 a0002c0008 a0002c0025 a0008c0026 a0009c0024 a0011c0019 a0012c0020	a0002c0002t0002 a0002c0002t0003 a0002c0008t0003 others(5): Show a0002c0002t0002 a0002c0002t0003 a0002c0008t0003 a0002c0025t0002 a0008c0026t0002 a0009c0024t0002 a0011c0019t0002 a0012c0020t0002	a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 others(50): Show a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0127 a0002c0002t0002g0128 a0002c0002t0002g0129 a0002c0002t0002g0130 a0002c0002t0002g0131 a0002c0002t0002g0132 a0002c0002t0002g0133 a0002c0002t0002g0135 a0002c0002t0002g0136 a0002c0002t0002g0138 a0002c0002t0002g0140 a0002c0002t0002g0141 a0002c0002t0002g0142 a0002c0002t0002g0143 a0002c0002t0002g0144 a0002c0002t0002g0145 a0002c0002t0002g0147 a0002c0002t0002g0148 a0002c0002t0002g0150 a0002c0002t0002g0151 a0002c0002t0002g0152 a0002c0002t0002g0153 a0002c0002t0002g0154 a0002c0002t0003g0164 a0002c0002t0003g0165 a0002c0002t0003g0166 a0002c0002t0003g0196 a0002c0008t0003g0034 a0002c0008t0003g0262 a0002c0025t0002g0112 a0008c0026t0002g0134 a0009c0024t0002g0146 a0011c0019t0002g0139 a0012c0020t0002g0149	53	340	0.1559	-3	c.106 others(12): Show c.1063_1065delAAA	p.Lys others(6): Show p.Lys355del	MAMDC2	ENSG00000165072.10	transcript	ENST00000377182.5	protein_coding	8/14	1413/3351	1063/2061	355/686		chr9	TogoVar
MAML1_chr5_179727822_179782283	179733341	CCGCCCGC others(14): Show CCGCCCGCCGCCACGGCCCCGG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp1 HG03516.hp2 HG02145.hp1 HG03516.hp2	a0006 a0006	a0006c0024 a0006c0025 a0006c0024 a0006c0025	a0006c0024t0001 a0006c0025t0001 a0006c0024t0001 a0006c0025t0001	a0006c0024t0001g0032 a0006c0025t0001g0039 a0006c0024t0001g0032 a0006c0025t0001g0039	2	360	0.0056	-21	c.241 others(28): Show c.241_261delACGGCCCCGGCGCCCGCCGCC	p.Thr others(11): Show p.Thr81_Ala87del	MAML1	ENSG00000161021.13	transcript	ENST00000292599.4	protein_coding	1/5	532/5748	241/3051	81/1016	INFO_REALIGN_3_PRIME	chr5	TogoVar
MAML3_chr4_139711753_140159184	139730430	TCTG TCTG	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(146): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01257.hp1 HG01257.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01981.hp1 HG01981.hp2 HG02055.hp1 HG02055.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp1 HG03579.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18939.hp1 NA18939.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18991.hp1 NA18991.hp2 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19065.hp2 NA20300.hp1 NA20300.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(10): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0015 a0016	a0001c0001 a0001c0002 a0001c0004 others(22): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0011 a0001c0015 a0001c0023 a0001c0027 a0002c0003 a0002c0018 a0003c0005 a0004c0006 a0004c0012 a0004c0020 a0004c0022 a0005c0007 a0005c0014 a0006c0008 a0007c0009 a0008c0013 a0009c0016 a0010c0024 a0011c0021 a0015c0025 a0016c0028	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(93): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0033 a0001c0001t0039 a0001c0001t0042 a0001c0001t0045 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0005 a0001c0002t0006 a0001c0002t0007 a0001c0002t0009 a0001c0002t0010 a0001c0002t0011 a0001c0002t0014 a0001c0002t0016 a0001c0002t0026 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0006 a0001c0004t0019 a0001c0004t0024 a0001c0010t0001 a0001c0010t0002 a0001c0010t0011 a0001c0010t0013 a0001c0011t0001 a0001c0011t0002 a0001c0011t0005 a0001c0015t0001 a0001c0023t0002 a0001c0027t0001 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0010 a0002c0003t0015 a0002c0003t0022 a0002c0003t0032 a0002c0003t0046 a0002c0018t0023 a0003c0005t0001 a0003c0005t0002 a0003c0005t0003 a0003c0005t0005 a0003c0005t0007 a0003c0005t0010 a0003c0005t0015 a0003c0005t0017 a0003c0005t0027 a0003c0005t0040 a0004c0006t0004 a0004c0006t0008 a0004c0006t0043 a0004c0012t0004 a0004c0012t0008 a0004c0020t0035 a0004c0022t0004 a0005c0007t0006 a0005c0007t0013 a0005c0007t0014 a0005c0007t0017 a0005c0007t0034 a0005c0007t0047 a0005c0014t0001 a0005c0014t0013 a0006c0008t0001 a0006c0008t0002 a0006c0008t0009 a0006c0008t0025 a0006c0008t0029 a0007c0009t0014 a0007c0009t0023 a0007c0009t0036 a0007c0009t0044 a0008c0013t0004 a0008c0013t0037 a0009c0016t0002 a0010c0024t0038 a0011c0021t0012 a0015c0025t0003 a0016c0028t0001	a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0028 others(146): Show a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0028 a0001c0001t0001g0034 a0001c0001t0001g0052 a0001c0001t0001g0102 a0001c0001t0001g0109 a0001c0001t0002g0037 a0001c0001t0002g0090 a0001c0001t0003g0050 a0001c0001t0006g0129 a0001c0001t0007g0072 a0001c0001t0007g0091 a0001c0001t0009g0121 a0001c0001t0009g0132 a0001c0001t0018g0111 a0001c0001t0018g0114 a0001c0001t0019g0115 a0001c0001t0020g0120 a0001c0001t0020g0126 a0001c0001t0021g0134 a0001c0001t0021g0135 a0001c0001t0028g0061 a0001c0001t0030g0022 a0001c0001t0031g0083 a0001c0001t0033g0033 a0001c0001t0039g0116 a0001c0001t0042g0119 a0001c0001t0045g0147 a0001c0002t0001g0020 a0001c0002t0001g0027 a0001c0002t0001g0082 a0001c0002t0001g0098 a0001c0002t0002g0026 a0001c0002t0002g0041 a0001c0002t0002g0093 a0001c0002t0003g0039 a0001c0002t0003g0104 a0001c0002t0005g0015 a0001c0002t0005g0099 a0001c0002t0006g0123 a0001c0002t0007g0076 a0001c0002t0009g0136 a0001c0002t0010g0097 a0001c0002t0011g0036 a0001c0002t0011g0064 a0001c0002t0014g0148 a0001c0002t0016g0006 a0001c0002t0016g0007 a0001c0002t0026g0002 a0001c0004t0001g0016 a0001c0004t0001g0017 a0001c0004t0001g0032 a0001c0004t0001g0035 a0001c0004t0001g0040 a0001c0004t0001g0069 a0001c0004t0001g0108 a0001c0004t0002g0024 a0001c0004t0002g0038 a0001c0004t0002g0042 a0001c0004t0002g0043 a0001c0004t0002g0060 a0001c0004t0002g0062 a0001c0004t0002g0077 a0001c0004t0002g0080 a0001c0004t0003g0029 a0001c0004t0006g0133 a0001c0004t0019g0112 a0001c0004t0024g0001 a0001c0010t0001g0055 a0001c0010t0002g0092 a0001c0010t0011g0057 a0001c0010t0013g0142 a0001c0011t0001g0103 a0001c0011t0002g0013 a0001c0011t0005g0019 a0001c0015t0001g0051 a0001c0023t0002g0075 a0001c0027t0001g0065 a0002c0003t0001g0070 a0002c0003t0001g0074 a0002c0003t0001g0086 a0002c0003t0002g0012 a0002c0003t0002g0014 a0002c0003t0002g0079 a0002c0003t0002g0081 a0002c0003t0002g0096 a0002c0003t0002g0101 a0002c0003t0002g0107 a0002c0003t0003g0010 a0002c0003t0003g0046 a0002c0003t0003g0089 a0002c0003t0006g0137 a0002c0003t0010g0063 a0002c0003t0015g0005 a0002c0003t0022g0145 a0002c0003t0022g0150 a0002c0003t0032g0048 a0002c0003t0046g0149 a0002c0018t0023g0144 a0003c0005t0001g0053 a0003c0005t0001g0066 a0003c0005t0002g0067 a0003c0005t0002g0100 a0003c0005t0003g0073 a0003c0005t0005g0087 a0003c0005t0005g0088 a0003c0005t0007g0045 a0003c0005t0010g0068 a0003c0005t0015g0008 a0003c0005t0017g0106 a0003c0005t0027g0004 a0003c0005t0040g0118 a0004c0006t0004g0025 a0004c0006t0004g0058 a0004c0006t0004g0078 a0004c0006t0008g0124 a0004c0006t0008g0127 a0004c0006t0008g0131 a0004c0006t0043g0151 a0004c0012t0004g0030 a0004c0012t0008g0130 a0004c0020t0035g0047 a0004c0022t0004g0105 a0005c0007t0006g0122 a0005c0007t0013g0146 a0005c0007t0014g0139 a0005c0007t0017g0011 a0005c0007t0034g0084 a0005c0007t0047g0152 a0005c0014t0001g0031 a0005c0014t0013g0138 a0006c0008t0001g0049 a0006c0008t0002g0044 a0006c0008t0002g0095 a0006c0008t0009g0128 a0006c0008t0025g0003 a0006c0008t0029g0094 a0007c0009t0014g0143 a0007c0009t0023g0141 a0007c0009t0036g0110 a0007c0009t0044g0140 a0008c0013t0004g0056 a0008c0013t0037g0117 a0009c0016t0002g0009 a0010c0024t0038g0113 a0011c0021t0012g0071 a0015c0025t0003g0021 a0016c0028t0001g0059	149	152	0.9803	-3	c.231 others(12): Show c.2314_2316delCAG	p.Gln others(6): Show p.Gln772del	MAML3	ENSG00000196782.13	transcript	ENST00000509479.6	protein_coding	3/5	3173/6844	2314/3417	772/1138		chr4	TogoVar
MAP3K11_chr11_65592757_65619221	65606712	GAAAGGTG others(5): Show GAAAGGTGGGCGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18977.hp2 NA18977.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0058 a0008c0011t0001g0058	1	392	0.0026	-12	c.157 others(21): Show c.1570_1581delTCGCCCACCTTT	p.Ser others(13): Show p.Ser524_Phe527del	MAP3K11	ENSG00000173327.8	transcript	ENST00000309100.8	protein_coding	6/10	2046/3543	1570/2544	524/847		chr11	TogoVar
MAP3K13_chr3_185358136_185494094	185480514	GGAA GGAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02723.hp2 HG03139.hp2 HG06807.hp1 others(1): Show HG02723.hp2 HG03139.hp2 HG06807.hp1 NA18522.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0177 a0002c0005t0001g0253 a0002c0005t0001g0254 others(1): Show a0002c0005t0001g0177 a0002c0005t0001g0253 a0002c0005t0001g0254 a0002c0005t0001g0276	4	278	0.0144	-3	c.278 others(12): Show c.2785_2787delGAA	p.Glu others(6): Show p.Glu929del	MAP3K13	ENSG00000073803.14	transcript	ENST00000265026.8	protein_coding	13/14	3103/9857	2785/2901	929/966		chr3	TogoVar
MAP3K1_chr5_56810549_56901152	56882021	TCAA TCAA	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(244): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01346.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp2 HG02055.hp1 HG02056.hp2 HG02080.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18953.hp1 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18971.hp2 NA18972.hp1 NA18973.hp1 NA18974.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18987.hp2 NA18989.hp1 NA18992.hp1 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19001.hp1 NA19002.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19068.hp2 NA19076.hp1 NA19077.hp1 NA19078.hp1 NA19079.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19085.hp1 NA19088.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0009 a0011	a0001c0001 a0001c0005 a0001c0006 others(10): Show a0001c0001 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0003c0002 a0003c0009 a0004c0012 a0004c0015 a0005c0010 a0006c0013 a0009c0016 a0011c0017	a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 others(39): Show a0001c0001t0002 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0016 a0001c0001t0017 a0001c0001t0026 a0001c0001t0028 a0001c0005t0001 a0001c0005t0004 a0001c0005t0005 a0001c0005t0012 a0001c0005t0014 a0001c0005t0021 a0001c0006t0001 a0001c0006t0004 a0001c0006t0005 a0001c0008t0009 a0001c0008t0017 a0001c0011t0009 a0001c0011t0025 a0003c0002t0001 a0003c0002t0003 a0003c0002t0004 a0003c0002t0005 a0003c0002t0007 a0003c0002t0009 a0003c0002t0011 a0003c0002t0012 a0003c0002t0013 a0003c0002t0017 a0003c0002t0022 a0003c0009t0015 a0003c0009t0019 a0003c0009t0024 a0004c0012t0008 a0004c0012t0016 a0004c0015t0008 a0005c0010t0004 a0006c0013t0002 a0009c0016t0002 a0011c0017t0002	a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0024 others(223): Show a0001c0001t0002g0005 a0001c0001t0002g0010 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0221 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0273 a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0281 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0284 a0001c0001t0002g0285 a0001c0001t0002g0286 a0001c0001t0002g0288 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0295 a0001c0001t0002g0296 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0301 a0001c0001t0002g0303 a0001c0001t0002g0304 a0001c0001t0002g0305 a0001c0001t0002g0306 a0001c0001t0002g0307 a0001c0001t0002g0308 a0001c0001t0002g0309 a0001c0001t0002g0310 a0001c0001t0002g0315 a0001c0001t0002g0316 a0001c0001t0002g0317 a0001c0001t0002g0318 a0001c0001t0002g0319 a0001c0001t0002g0320 a0001c0001t0008g0200 a0001c0001t0008g0201 a0001c0001t0008g0202 a0001c0001t0008g0203 a0001c0001t0008g0217 a0001c0001t0008g0274 a0001c0001t0008g0278 a0001c0001t0008g0300 a0001c0001t0008g0314 a0001c0001t0009g0335 a0001c0001t0010g0029 a0001c0001t0010g0329 a0001c0001t0010g0330 a0001c0001t0010g0331 a0001c0001t0010g0332 a0001c0001t0010g0333 a0001c0001t0010g0334 a0001c0001t0010g0336 a0001c0001t0016g0026 a0001c0001t0016g0275 a0001c0001t0016g0313 a0001c0001t0017g0328 a0001c0001t0026g0272 a0001c0001t0028g0312 a0001c0005t0001g0235 a0001c0005t0004g0022 a0001c0005t0004g0225 a0001c0005t0004g0226 a0001c0005t0004g0227 a0001c0005t0004g0228 a0001c0005t0004g0229 a0001c0005t0004g0230 a0001c0005t0004g0231 a0001c0005t0004g0232 a0001c0005t0004g0233 a0001c0005t0004g0234 a0001c0005t0004g0236 a0001c0005t0004g0237 a0001c0005t0004g0238 a0001c0005t0005g0239 a0001c0005t0012g0222 a0001c0005t0012g0223 a0001c0005t0012g0224 a0001c0005t0014g0321 a0001c0005t0014g0322 a0001c0005t0014g0323 a0001c0005t0014g0324 a0001c0005t0014g0325 a0001c0005t0021g0240 a0001c0006t0001g0245 a0001c0006t0004g0023 a0001c0006t0004g0241 a0001c0006t0004g0242 a0001c0006t0004g0243 a0001c0006t0004g0244 a0001c0006t0004g0246 a0001c0006t0004g0247 a0001c0006t0004g0248 a0001c0006t0004g0249 a0001c0006t0004g0250 a0001c0006t0004g0251 a0001c0006t0004g0252 a0001c0006t0004g0254 a0001c0006t0004g0255 a0001c0006t0004g0260 a0001c0006t0005g0009 a0001c0006t0005g0253 a0001c0008t0009g0208 a0001c0008t0009g0209 a0001c0008t0009g0210 a0001c0008t0009g0212 a0001c0008t0017g0211 a0001c0011t0009g0204 a0001c0011t0009g0206 a0001c0011t0009g0207 a0001c0011t0025g0205 a0003c0002t0001g0030 a0003c0002t0001g0031 a0003c0002t0001g0171 a0003c0002t0001g0174 a0003c0002t0003g0002 a0003c0002t0003g0008 a0003c0002t0003g0011 a0003c0002t0003g0021 a0003c0002t0003g0032 a0003c0002t0003g0033 a0003c0002t0003g0150 a0003c0002t0003g0151 a0003c0002t0003g0152 a0003c0002t0003g0153 a0003c0002t0003g0154 a0003c0002t0003g0155 a0003c0002t0003g0156 a0003c0002t0003g0157 a0003c0002t0003g0159 a0003c0002t0003g0160 a0003c0002t0003g0161 a0003c0002t0003g0162 a0003c0002t0003g0164 a0003c0002t0003g0165 a0003c0002t0003g0166 a0003c0002t0003g0167 a0003c0002t0003g0168 a0003c0002t0003g0169 a0003c0002t0003g0170 a0003c0002t0003g0172 a0003c0002t0003g0175 a0003c0002t0003g0177 a0003c0002t0003g0178 a0003c0002t0003g0179 a0003c0002t0003g0180 a0003c0002t0003g0181 a0003c0002t0003g0182 a0003c0002t0003g0183 a0003c0002t0003g0184 a0003c0002t0003g0185 a0003c0002t0003g0186 a0003c0002t0003g0187 a0003c0002t0003g0188 a0003c0002t0003g0189 a0003c0002t0003g0190 a0003c0002t0003g0191 a0003c0002t0003g0193 a0003c0002t0003g0195 a0003c0002t0003g0196 a0003c0002t0003g0197 a0003c0002t0003g0198 a0003c0002t0004g0038 a0003c0002t0005g0037 a0003c0002t0007g0012 a0003c0002t0007g0034 a0003c0002t0007g0035 a0003c0002t0007g0039 a0003c0002t0007g0040 a0003c0002t0007g0041 a0003c0002t0007g0042 a0003c0002t0007g0043 a0003c0002t0009g0036 a0003c0002t0011g0002 a0003c0002t0011g0008 a0003c0002t0011g0158 a0003c0002t0011g0163 a0003c0002t0011g0173 a0003c0002t0011g0176 a0003c0002t0011g0192 a0003c0002t0011g0194 a0003c0002t0012g0020 a0003c0002t0013g0199 a0003c0002t0017g0215 a0003c0002t0022g0002 a0003c0009t0015g0028 a0003c0009t0019g0326 a0003c0009t0019g0327 a0003c0009t0024g0028 a0004c0012t0008g0056 a0004c0012t0008g0058 a0004c0012t0016g0057 a0004c0015t0008g0216 a0005c0010t0004g0256 a0005c0010t0004g0257 a0005c0010t0004g0258 a0005c0010t0004g0259 a0006c0013t0002g0299 a0006c0013t0002g0302 a0009c0016t0002g0287 a0011c0017t0002g0311	247	384	0.6432	-3	c.284 others(12): Show c.2845_2847delACA	p.Thr others(6): Show p.Thr949del	MAP3K1	ENSG00000095015.6	transcript	ENST00000399503.4	protein_coding	14/20	2870/7036	2845/4539	949/1512	INFO_REALIGN_3_PRIME	chr5	TogoVar
MAP6D1_chr3_183810922_183830577	183825502	AGCGCCGC others(20): Show AGCGCCGCGCCAGGCAGCACAGGCGGCT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19054.hp2 NA19054.hp2	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0021 a0004c0009t0021	a0004c0009t0021g0059 a0004c0009t0021g0059	1	462	0.0022	-27	c.19_ others(32): Show c.19_45delAGCCGCCTGTGCTGCCTGGCGCGGCGC	p.Ser others(10): Show p.Ser7_Arg15del	MAP6D1	ENSG00000180834.8	transcript	ENST00000318631.8	protein_coding	1/3	75/2064	19/600	7/199		chr3	TogoVar
MAP7D1_chr1_36151160_36185849	36178099	GAGA GAGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00323.hp2 HG00597.hp1 HG00642.hp1 others(30): Show HG00323.hp2 HG00597.hp1 HG00642.hp1 HG00735.hp1 HG01168.hp2 HG01361.hp2 HG01433.hp1 HG01978.hp1 HG02300.hp2 HG03239.hp1 NA18943.hp2 NA18960.hp2 NA18962.hp2 NA18969.hp2 NA18974.hp2 NA18985.hp2 NA18988.hp1 NA18989.hp1 NA18993.hp2 NA18998.hp2 NA19055.hp1 NA19056.hp2 NA19058.hp2 NA19064.hp1 NA19066.hp2 NA19070.hp1 NA19080.hp1 NA19083.hp2 NA19084.hp2 NA19087.hp1 NA19088.hp1 NA19089.hp2 NA19090.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0002 a0002c0003t0001 a0002c0003t0002	a0002c0003t0001g0002 a0002c0003t0001g0029 a0002c0003t0001g0042 others(26): Show a0002c0003t0001g0002 a0002c0003t0001g0029 a0002c0003t0001g0042 a0002c0003t0001g0043 a0002c0003t0001g0044 a0002c0003t0001g0099 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0102 a0002c0003t0001g0103 a0002c0003t0001g0104 a0002c0003t0001g0122 a0002c0003t0001g0126 a0002c0003t0001g0144 a0002c0003t0001g0244 a0002c0003t0001g0246 a0002c0003t0001g0247 a0002c0003t0001g0248 a0002c0003t0001g0249 a0002c0003t0001g0250 a0002c0003t0001g0251 a0002c0003t0001g0252 a0002c0003t0001g0253 a0002c0003t0001g0254 a0002c0003t0001g0255 a0002c0003t0001g0256 a0002c0003t0001g0258 a0002c0003t0001g0259 a0002c0003t0002g0096	33	378	0.0873	-3	c.160 others(12): Show c.1609_1611delAAG	p.Lys others(6): Show p.Lys537del	MAP7D1	ENSG00000116871.16	transcript	ENST00000474796.2	protein_coding	9/17	1867/3372	1609/2523	537/840	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAP7_chr6_136337734_136555422	136362637	GGGCTGGA others(11): Show GGGCTGGAGCTGGGGCCGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00423.hp1 HG02080.hp1 HG02165.hp1 HG00423.hp1 HG02080.hp1 HG02165.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0104 a0005c0005t0001g0105 a0005c0005t0001g0169 a0005c0005t0001g0104 a0005c0005t0001g0105 a0005c0005t0001g0169	3	248	0.0121	-18	c.132 others(27): Show c.1321_1338delTCGGCCCCAGCTCCAGCC	p.Ser others(13): Show p.Ser441_Ala446del	MAP7	ENSG00000135525.19	transcript	ENST00000354570.8	protein_coding	11/18	1352/3758	1321/2250	441/749		chr6	TogoVar
MBTPS2_chrX_21834617_21890423	21878087	GCCT GCCT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19078.hp1 NA19078.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0193 a0003c0006t0001g0193	1	308	0.0033	-3	c.101 others(12): Show c.1018_1020delCTC	p.Leu others(6): Show p.Leu340del	MBTPS2	ENSG00000012174.12	transcript	ENST00000379484.10	protein_coding	8/11	1136/4446	1018/1560	340/519	INFO_REALIGN_3_PRIME	chrX	TogoVar
MED15_chr22_20502610_20592619	20566526	ACAG ACAG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01978.hp1 HG02055.hp2 HG02572.hp1 others(6): Show HG01978.hp1 HG02055.hp2 HG02572.hp1 HG02602.hp1 HG03139.hp1 HG03225.hp2 HG03579.hp1 NA19009.hp2 NA20905.hp2	a0003 a0009 a0003 a0009	a0003c0005 a0003c0012 a0003c0020 others(1): Show a0003c0005 a0003c0012 a0003c0020 a0009c0024	a0003c0005t0001 a0003c0005t0002 a0003c0005t0010 others(3): Show a0003c0005t0001 a0003c0005t0002 a0003c0005t0010 a0003c0012t0001 a0003c0020t0002 a0009c0024t0001	a0003c0005t0001g0153 a0003c0005t0001g0265 a0003c0005t0001g0313 others(6): Show a0003c0005t0001g0153 a0003c0005t0001g0265 a0003c0005t0001g0313 a0003c0005t0001g0322 a0003c0005t0002g0276 a0003c0005t0010g0303 a0003c0012t0001g0314 a0003c0020t0002g0239 a0009c0024t0001g0311	9	341	0.0264	-3	c.784 others(10): Show c.784_786delCAG	p.Gln others(6): Show p.Gln262del	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	7/18	853/3351	784/2367	262/788	INFO_REALIGN_3_PRIME	chr22	TogoVar
MED15_chr22_20502610_20592619	20566526	ACAGCAGC others(2): Show ACAGCAGCAG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02451.hp1 NA18995.hp1 NA19043.hp1 HG02451.hp1 NA18995.hp1 NA19043.hp1	a0004 a0004	a0004c0009 a0004c0021 a0004c0009 a0004c0021	a0004c0009t0001 a0004c0021t0002 a0004c0009t0001 a0004c0021t0002	a0004c0009t0001g0213 a0004c0009t0001g0214 a0004c0021t0002g0258 a0004c0009t0001g0213 a0004c0009t0001g0214 a0004c0021t0002g0258	3	341	0.0088	-9	c.778 others(16): Show c.778_786delCAGCAGCAG	p.Gln others(13): Show p.Gln260_Gln262del	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	7/18	847/3351	778/2367	260/788	INFO_REALIGN_3_PRIME	chr22	TogoVar
MED15_chr22_20502610_20592619	20566526	ACAGCAGC others(5): Show ACAGCAGCAGCAG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02572.hp2 HG02809.hp2 HG02572.hp2 HG02809.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0277 a0006c0010t0001g0279 a0006c0010t0001g0277 a0006c0010t0001g0279	2	341	0.0059	-12	c.775 others(19): Show c.775_786delCAGCAGCAGCAG	p.Gln others(13): Show p.Gln259_Gln262del	MED15	ENSG00000099917.17	transcript	ENST00000263205.11	protein_coding	7/18	844/3351	775/2367	259/788	INFO_REALIGN_3_PRIME	chr22	TogoVar
MFHAS1_chr8_8778354_8898630	8892929	CGGCCCCG others(5): Show CGGCCCCGGGGCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00558.hp2 HG00558.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0001 a0013c0015t0001	a0013c0015t0001g0050 a0013c0015t0001g0050	1	324	0.0031	-12	c.118 others(19): Show c.118_129delTGCCCCGGGGCC	p.Cys others(11): Show p.Cys40_Ala43del	MFHAS1	ENSG00000147324.11	transcript	ENST00000276282.7	protein_coding	1/3	701/6399	118/3159	40/1052		chr8	TogoVar
MGAM_chr7_141990879_142111747	142008543	GACAACTG others(17): Show GACAACTGGTACCCCAGATCCTGGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18942.hp2 NA18942.hp2	a0070 a0070	a0070c0045 a0070c0045	a0070c0045t0001 a0070c0045t0001	a0070c0045t0001g0039 a0070c0045t0001g0039	1	316	0.0032	-24	c.178 others(31): Show c.178_201delCCAGATCCTGGAACAACTGGTACC	p.Pro others(11): Show p.Pro60_Thr67del	MGAM	ENSG00000257335.8	transcript	ENST00000475668.6	protein_coding	3/71	232/9172	178/8262	60/2753	INFO_REALIGN_3_PRIME	chr7	TogoVar

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