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
GOLGA6L2_chr15_23434038_23452243	23440176	CTCCTCCT others(86): Show CTCCTCCTGCGTCTTCTTCTTCTCCCGCATCTTCTCCACCTGCTGCCACA TCTTCTGCTCCCGCATTCTCTCCTCCTTCTCCCGCAGCCTCTCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02109.hp2 HG02109.hp2	a0006 a0006	a0006c0032 a0006c0032	a0006c0032t0010 a0006c0032t0010	a0006c0032t0010g0129 a0006c0032t0010g0129	1	396	0.0025	-93	c.220 others(102): Show c.2206_2298delCGAGAGGCTGCGGGAGAAGGAGGAGAGAATGCGGGA GCAGAAGATGTGGCAGCAGGTGGAGAAGATGCGGGAGAAGAAGAAGACGC AGGAGGA	p.Arg others(13): Show p.Arg736_Gly766del	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	2360/3499	2206/2730	736/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23441436	CCTGCTCC others(11): Show CCTGCTCCCGCAGCTTCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01109.hp1 HG01109.hp1	a0015 a0015	a0015c0073 a0015c0073	a0015c0073t0001 a0015c0073t0001	a0015c0073t0001g0104 a0015c0073t0001g0104	1	396	0.0025	-18	c.102 others(27): Show c.1021_1038delAAGAAGCTGCGGGAGCAG	p.Lys others(13): Show p.Lys341_Gln346del	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	1100/3499	1021/2730	341/909		chr15	TogoVar
GOLGA6L2_chr15_23434038_23452243	23441523	TCCGCATC others(14): Show TCCGCATCTTCTCCTCCTGCTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02258.hp2 HG02615.hp1 HG02717.hp2 others(15): Show HG02258.hp2 HG02615.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp1 HG03130.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03516.hp1 HG03927.hp2 HG04115.hp2 HG06807.hp2 NA19240.hp1	a0002 a0009 a0026 others(1): Show a0002 a0009 a0026 a0027	a0002c0008 a0002c0011 a0002c0041 others(3): Show a0002c0008 a0002c0011 a0002c0041 a0009c0021 a0026c0040 a0027c0039	a0002c0008t0007 a0002c0008t0013 a0002c0008t0021 others(6): Show a0002c0008t0007 a0002c0008t0013 a0002c0008t0021 a0002c0008t0024 a0002c0011t0008 a0002c0041t0007 a0009c0021t0014 a0026c0040t0022 a0027c0039t0007	a0002c0008t0007g0016 a0002c0008t0013g0043 a0002c0008t0021g0127 others(8): Show a0002c0008t0007g0016 a0002c0008t0013g0043 a0002c0008t0021g0127 a0002c0008t0024g0128 a0002c0011t0008g0018 a0002c0011t0008g0138 a0002c0041t0007g0126 a0009c0021t0014g0056 a0009c0021t0014g0057 a0026c0040t0022g0125 a0027c0039t0007g0124	18	396	0.0455	-21	c.931 others(28): Show c.931_951delGAGCAGGAGGAGAAGATGCGG	p.Glu others(13): Show p.Glu311_Arg317del	GOLGA6L2	ENSG00000174450.13	transcript	ENST00000567107.6	protein_coding	8/8	1013/3499	931/2730	311/909		chr15	TogoVar
GOLGA6L4_chr15_84230773_84250358	84240303	GAGAAGCT others(8): Show GAGAAGCTGCCAGGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03927.hp1 HG03927.hp1	a0053 a0053	a0053c0068 a0053c0068	a0053c0068t0001 a0053c0068t0001	a0053c0068t0001g0069 a0053c0068t0001g0069	1	251	0.0040	-15	c.952 others(22): Show c.952_966delAAGCTGCCAGGGCAG	p.Lys others(13): Show p.Lys318_Gln322del	GOLGA6L4	ENSG00000184206.13	transcript	ENST00000510439.7	protein_coding	6/9	1014/4553	952/1725	318/574	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L4_chr15_84230773_84250358	84240664	AGGAGCTG others(11): Show AGGAGCTGGAGAGGCTGCG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00558.hp1 HG00621.hp2 NA18952.hp1 others(3): Show HG00558.hp1 HG00621.hp2 NA18952.hp1 NA18956.hp2 NA18966.hp2 NA18993.hp2	a0011 a0039 a0011 a0039	a0011c0011 a0011c0047 a0039c0055 a0011c0011 a0011c0047 a0039c0055	a0011c0011t0001 a0011c0047t0029 a0039c0055t0001 a0011c0011t0001 a0011c0047t0029 a0039c0055t0001	a0011c0011t0001g0016 a0011c0011t0001g0100 a0011c0047t0029g0079 others(1): Show a0011c0011t0001g0016 a0011c0011t0001g0100 a0011c0047t0029g0079 a0039c0055t0001g0016	6	251	0.0239	-18	c.134 others(27): Show c.1342_1359delCTGCGGGAGCTGGAGAGG	p.Leu others(13): Show p.Leu448_Arg453del	GOLGA6L4	ENSG00000184206.13	transcript	ENST00000510439.7	protein_coding	6/9	1404/4553	1342/1725	448/574	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L6_chr15_20526856_20546800	20534699	CCTCCTG CCTCCTG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00558.hp1 HG00609.hp2 HG00733.hp1 others(38): Show HG00558.hp1 HG00609.hp2 HG00733.hp1 HG01256.hp1 HG01517.hp2 HG02155.hp2 HG02165.hp1 HG02523.hp2 HG02602.hp1 HG03669.hp2 HG04204.hp2 NA18747.hp2 NA18939.hp1 NA18940.hp2 NA18941.hp1 NA18943.hp2 NA18944.hp1 NA18949.hp1 NA18951.hp2 NA18955.hp2 NA18964.hp1 NA18967.hp1 NA18968.hp2 NA18974.hp2 NA18978.hp2 NA18984.hp2 NA18989.hp2 NA19000.hp2 NA19003.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp2 NA19066.hp1 NA19074.hp2 NA19075.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19090.hp2 NA19091.hp1	a0003 a0004 a0008 others(3): Show a0003 a0004 a0008 a0025 a0041 a0042	a0003c0003 a0004c0004 a0008c0008 others(4): Show a0003c0003 a0004c0004 a0008c0008 a0008c0033 a0025c0028 a0041c0053 a0042c0054	a0003c0003t0003 a0003c0003t0010 a0004c0004t0003 others(6): Show a0003c0003t0003 a0003c0003t0010 a0004c0004t0003 a0008c0008t0003 a0008c0008t0010 a0008c0033t0003 a0025c0028t0003 a0041c0053t0003 a0042c0054t0003	a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0018 others(19): Show a0003c0003t0003g0006 a0003c0003t0003g0007 a0003c0003t0003g0018 a0003c0003t0003g0034 a0003c0003t0003g0035 a0003c0003t0003g0038 a0003c0003t0010g0036 a0004c0004t0003g0004 a0004c0004t0003g0027 a0004c0004t0003g0111 a0004c0004t0003g0115 a0004c0004t0003g0116 a0004c0004t0003g0117 a0004c0004t0003g0119 a0008c0008t0003g0021 a0008c0008t0003g0047 a0008c0008t0003g0050 a0008c0008t0010g0048 a0008c0033t0003g0049 a0025c0028t0003g0037 a0041c0053t0003g0109 a0042c0054t0003g0118	41	214	0.1916	-6	c.172 others(15): Show c.1729_1734delCAGGAG	p.Gln others(13): Show p.Gln577_Glu578del	GOLGA6L6	ENSG00000277322.1	transcript	ENST00000619213.1	protein_coding	8/9	1825/4013	1729/2175	577/724		chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28842669	CCATCTGC others(14): Show CCATCTGCTCCTCCTGCTTCCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA20905.hp2 NA20905.hp2	a0041 a0041	a0041c0029 a0041c0029	a0041c0029t0002 a0041c0029t0002	a0041c0029t0002g0084 a0041c0029t0002g0084	1	422	0.0024	-21	c.141 others(30): Show c.1414_1434delAGGAAGCAGGAGGAGCAGATG	p.Arg others(13): Show p.Arg472_Met478del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1529/2367	1414/1869	472/622		chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28842750	CCCCCATC others(14): Show CCCCCATCTGCTCCTCCTGCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02109.hp1 HG02486.hp2 HG02622.hp1 others(3): Show HG02109.hp1 HG02486.hp2 HG02622.hp1 HG03225.hp2 HG03453.hp1 HG03579.hp1	a0020 a0033 a0036 others(2): Show a0020 a0033 a0036 a0037 a0051	a0020c0016 a0033c0046 a0036c0042 others(2): Show a0020c0016 a0033c0046 a0036c0042 a0037c0041 a0051c0023	a0020c0016t0002 a0033c0046t0002 a0036c0042t0002 others(2): Show a0020c0016t0002 a0033c0046t0002 a0036c0042t0002 a0037c0041t0002 a0051c0023t0002	a0020c0016t0002g0069 a0020c0016t0002g0070 a0033c0046t0002g0145 others(3): Show a0020c0016t0002g0069 a0020c0016t0002g0070 a0033c0046t0002g0145 a0036c0042t0002g0097 a0037c0041t0002g0098 a0051c0023t0002g0074	6	422	0.0142	-21	c.133 others(30): Show c.1333_1353delAAGCAGGAGGAGCAGATGGGG	p.Lys others(13): Show p.Lys445_Gly451del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1448/2367	1333/1869	445/622		chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28842795	CCATCTGC others(278): Show CCATCTGCTCCTCCTGCTTCCGGATCTGCTCCTCCTGCTCCCCCATCTGC TCCTCCTGCTTCCTCATCTGCTCCCCCATCTGCTCCTCCTGCTTCCACAT CTGCTCCTCCTGCTTTCGCATCTGCTCCTCCTGCTCCCCTATCTGCTCCT CCTGCTTCCACATCTGCTCCTCCTGCTTCCGCATCTGCTCCTCCTGCTCC CCTATCTGCTCCTCCTGCTTCCACATCTGCTCCTCCTGCTTCCGCATCTG CTCCTTCTGCTTCAGCATCTGCTTCTCCTGCTTCCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01168.hp1 HG01168.hp1	a0025 a0025	a0025c0053 a0025c0053	a0025c0053t0001 a0025c0053t0001	a0025c0053t0001g0127 a0025c0053t0001g0127	1	422	0.0024	-285	c.102 others(9): Show c.1024_1308del	p.Arg others(13): Show p.Arg342_Met436del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1403/2367	1024/1869	342/622		chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28842807	CCTGCTTC others(47): Show CCTGCTTCCGGATCTGCTCCTCCTGCTCCCCCATCTGCTCCTCCTGCTTC CTCAT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01981.hp1 HG02027.hp2 HG02055.hp1 others(23): Show HG01981.hp1 HG02027.hp2 HG02055.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02615.hp1 HG02647.hp1 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03098.hp2 HG03139.hp1 HG03209.hp1 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp2 NA18747.hp1 NA19043.hp2 NA20300.hp1	a0004 a0032 a0049 others(1): Show a0004 a0032 a0049 a0050	a0004c0004 a0004c0005 a0032c0057 others(2): Show a0004c0004 a0004c0005 a0032c0057 a0049c0037 a0050c0035	a0004c0004t0002 a0004c0004t0006 a0004c0005t0002 others(3): Show a0004c0004t0002 a0004c0004t0006 a0004c0005t0002 a0032c0057t0006 a0049c0037t0002 a0050c0035t0001	a0004c0004t0002g0005 a0004c0004t0002g0075 a0004c0004t0006g0088 others(6): Show a0004c0004t0002g0005 a0004c0004t0002g0075 a0004c0004t0006g0088 a0004c0005t0002g0011 a0004c0005t0002g0101 a0004c0005t0002g0102 a0032c0057t0006g0113 a0049c0037t0002g0100 a0050c0035t0001g0089	26	422	0.0616	-54	c.124 others(63): Show c.1243_1296delATGAGGAAGCAGGAGGAGCAGATGGGGGAGCAGGAG GAGCAGATCCGGAAGCAG	p.Met others(13): Show p.Met415_Gln432del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1391/2367	1243/1869	415/622		chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28842819	TCTGCTCC others(98): Show TCTGCTCCTCCTGCTCCCCCATCTGCTCCTCCTGCTTCCTCATCTGCTCC CCCATCTGCTCCTCCTGCTTCCACATCTGCTCCTCCTGCTTTCGCATCTG CTCCTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02647.hp2 HG02717.hp1 HG03471.hp1 HG02647.hp2 HG02717.hp1 HG03471.hp1	a0013 a0013	a0013c0014 a0013c0014	a0013c0014t0002 a0013c0014t0002	a0013c0014t0002g0035 a0013c0014t0002g0096 a0013c0014t0002g0035 a0013c0014t0002g0096	3	422	0.0071	-105	c.118 others(9): Show c.1180_1284del	p.Glu others(13): Show p.Glu394_Gln428del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1379/2367	1180/1869	394/622		chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28842855	TCCTCATC others(5): Show TCCTCATCTGCTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02109.hp1 HG02486.hp2 HG02622.hp1 others(4): Show HG02109.hp1 HG02486.hp2 HG02622.hp1 HG03225.hp2 HG03453.hp1 HG03579.hp1 NA20905.hp2	a0020 a0033 a0036 others(3): Show a0020 a0033 a0036 a0037 a0041 a0051	a0020c0016 a0033c0046 a0036c0042 others(3): Show a0020c0016 a0033c0046 a0036c0042 a0037c0041 a0041c0029 a0051c0023	a0020c0016t0002 a0033c0046t0002 a0036c0042t0002 others(3): Show a0020c0016t0002 a0033c0046t0002 a0036c0042t0002 a0037c0041t0002 a0041c0029t0002 a0051c0023t0002	a0020c0016t0002g0069 a0020c0016t0002g0070 a0033c0046t0002g0145 others(4): Show a0020c0016t0002g0069 a0020c0016t0002g0070 a0033c0046t0002g0145 a0036c0042t0002g0097 a0037c0041t0002g0098 a0041c0029t0002g0084 a0051c0023t0002g0074	7	422	0.0166	-12	c.123 others(21): Show c.1237_1248delGAGCAGATGAGG	p.Glu others(13): Show p.Glu413_Arg416del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1343/2367	1237/1869	413/622		chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28842915	TCTGCTCC others(2): Show TCTGCTCCTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02109.hp1 HG02486.hp2 HG02622.hp1 others(4): Show HG02109.hp1 HG02486.hp2 HG02622.hp1 HG03225.hp2 HG03453.hp1 HG03579.hp1 NA20905.hp2	a0020 a0033 a0036 others(3): Show a0020 a0033 a0036 a0037 a0041 a0051	a0020c0016 a0033c0046 a0036c0042 others(3): Show a0020c0016 a0033c0046 a0036c0042 a0037c0041 a0041c0029 a0051c0023	a0020c0016t0002 a0033c0046t0002 a0036c0042t0002 others(3): Show a0020c0016t0002 a0033c0046t0002 a0036c0042t0002 a0037c0041t0002 a0041c0029t0002 a0051c0023t0002	a0020c0016t0002g0069 a0020c0016t0002g0070 a0033c0046t0002g0145 others(4): Show a0020c0016t0002g0069 a0020c0016t0002g0070 a0033c0046t0002g0145 a0036c0042t0002g0097 a0037c0041t0002g0098 a0041c0029t0002g0084 a0051c0023t0002g0074	7	422	0.0166	-9	c.118 others(18): Show c.1180_1188delGAGGAGCAG	p.Glu others(13): Show p.Glu394_Gln396del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1283/2367	1180/1869	394/622		chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28842975	GCATCTGC others(35): Show GCATCTGCTCCTCCTGCTCCCCTATCTGCTCCTCCTGCTTCCA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19060.hp2 NA19060.hp2	a0040 a0040	a0040c0027 a0040c0027	a0040c0027t0002 a0040c0027t0002	a0040c0027t0002g0076 a0040c0027t0002g0076	1	422	0.0024	-42	c.108 others(51): Show c.1087_1128delTGGAAGCAGGAGGAGCAGATAGGGGAGCAGGAGGAG CAGATG	p.Trp others(13): Show p.Trp363_Met376del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1223/2367	1087/1869	363/622		chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28842975	GCATCTGC others(140): Show GCATCTGCTCCTCCTGCTCCCCTATCTGCTCCTCCTGCTTCCACATCTGC TCCTCCTGCTTCCGCATCTGCTCCTTCTGCTTCAGCATCTGCTTCTCCTG CTTCCGCATCTGCTCCTCCTGCTCCCCCATCTGCTCCTCCTGCTTCCC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp1 HG02145.hp2 HG02257.hp2 others(5): Show HG02145.hp1 HG02145.hp2 HG02257.hp2 HG02559.hp1 HG02572.hp1 HG02976.hp2 HG03130.hp1 HG06807.hp2	a0008 a0018 a0038 others(1): Show a0008 a0018 a0038 a0052	a0008c0011 a0018c0017 a0038c0034 others(1): Show a0008c0011 a0018c0017 a0038c0034 a0052c0044	a0008c0011t0002 a0018c0017t0002 a0038c0034t0002 others(1): Show a0008c0011t0002 a0018c0017t0002 a0038c0034t0002 a0052c0044t0012	a0008c0011t0002g0018 a0018c0017t0002g0054 a0018c0017t0002g0080 others(2): Show a0008c0011t0002g0018 a0018c0017t0002g0054 a0018c0017t0002g0080 a0038c0034t0002g0099 a0052c0044t0012g0048	8	422	0.0190	-147	c.982 others(8): Show c.982_1128del	p.Gly others(13): Show p.Gly328_Met376del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1223/2367	982/1869	328/622		chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28843098	CCCCCATC others(14): Show CCCCCATCTGCTCCTCCTGCTT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00280.hp2 HG00408.hp2 others(112): Show HG00099.hp1 HG00280.hp2 HG00408.hp2 HG00558.hp1 HG00597.hp1 HG00673.hp1 HG00741.hp2 HG01069.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01167.hp1 HG01169.hp2 HG01256.hp1 HG01257.hp1 HG01261.hp1 HG01361.hp1 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp2 HG02083.hp1 HG02148.hp1 HG02155.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02523.hp1 HG02602.hp1 HG02602.hp2 HG02630.hp2 HG02717.hp2 HG02735.hp1 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG03041.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03516.hp2 HG03688.hp1 HG03704.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp1 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18953.hp2 NA18954.hp1 NA18957.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18968.hp1 NA18969.hp1 NA18971.hp1 NA18975.hp1 NA18978.hp1 NA18986.hp1 NA18990.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19002.hp1 NA19004.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19055.hp1 NA19060.hp1 NA19060.hp2 NA19064.hp2 NA19067.hp2 NA19068.hp2 NA19070.hp1 NA19072.hp1 NA19074.hp2 NA19076.hp1 NA19077.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19086.hp1 NA19088.hp2 NA20300.hp2 NA20905.hp2	a0002 a0003 a0006 others(13): Show a0002 a0003 a0006 a0007 a0009 a0014 a0019 a0024 a0035 a0039 a0040 a0041 a0042 a0043 a0044 a0045	a0002c0002 a0003c0003 a0006c0007 others(13): Show a0002c0002 a0003c0003 a0006c0007 a0007c0008 a0009c0010 a0014c0013 a0019c0018 a0024c0054 a0035c0040 a0039c0033 a0040c0027 a0041c0029 a0042c0028 a0043c0022 a0044c0032 a0045c0030	a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 others(23): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0014 a0003c0003t0002 a0003c0003t0005 a0003c0003t0006 a0006c0007t0001 a0006c0007t0003 a0007c0008t0002 a0007c0008t0006 a0009c0010t0001 a0014c0013t0001 a0014c0013t0015 a0014c0013t0016 a0019c0018t0007 a0024c0054t0002 a0035c0040t0005 a0039c0033t0001 a0040c0027t0002 a0041c0029t0002 a0042c0028t0001 a0043c0022t0005 a0044c0032t0003 a0045c0030t0003	a0002c0002t0001g0023 a0002c0002t0001g0052 a0002c0002t0001g0057 others(47): Show a0002c0002t0001g0023 a0002c0002t0001g0052 a0002c0002t0001g0057 a0002c0002t0003g0006 a0002c0002t0003g0009 a0002c0002t0003g0016 a0002c0002t0003g0020 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0051 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0062 a0002c0002t0003g0065 a0002c0002t0005g0061 a0002c0002t0008g0032 a0002c0002t0014g0053 a0003c0003t0002g0002 a0003c0003t0002g0024 a0003c0003t0002g0034 a0003c0003t0002g0055 a0003c0003t0002g0073 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0005g0017 a0003c0003t0006g0077 a0003c0003t0006g0079 a0006c0007t0001g0045 a0006c0007t0003g0042 a0006c0007t0003g0131 a0006c0007t0003g0136 a0007c0008t0002g0025 a0007c0008t0002g0144 a0007c0008t0006g0081 a0009c0010t0001g0033 a0009c0010t0001g0067 a0009c0010t0001g0068 a0014c0013t0001g0091 a0014c0013t0015g0147 a0014c0013t0016g0148 a0019c0018t0007g0031 a0024c0054t0002g0128 a0035c0040t0005g0092 a0039c0033t0001g0083 a0040c0027t0002g0076 a0041c0029t0002g0084 a0042c0028t0001g0056 a0043c0022t0005g0071 a0044c0032t0003g0058 a0045c0030t0003g0063	115	422	0.2725	-21	c.985 others(29): Show c.985_1005delAAGCAGGAGGAGCAGATGGGG	p.Lys others(13): Show p.Lys329_Gly335del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1100/2367	985/1869	329/622		chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28843101	CCATCTGC others(35): Show CCATCTGCTCCTCCTGCTTCCCCATCTGCTCCTCCTGCTTCCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01496.hp1 HG01981.hp1 HG02027.hp2 others(40): Show HG01496.hp1 HG01981.hp1 HG02027.hp2 HG02055.hp1 HG02109.hp1 HG02258.hp1 HG02280.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02723.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03516.hp1 HG03540.hp1 HG03710.hp1 HG03834.hp1 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA19030.hp1 NA19043.hp2 NA20300.hp1 NA21309.hp1 NA21309.hp2	a0004 a0005 a0010 others(6): Show a0004 a0005 a0010 a0013 a0022 a0032 a0034 a0050 a0051	a0004c0004 a0004c0005 a0005c0006 others(7): Show a0004c0004 a0004c0005 a0005c0006 a0010c0009 a0013c0014 a0022c0056 a0032c0057 a0034c0039 a0050c0035 a0051c0023	a0004c0004t0002 a0004c0004t0006 a0004c0005t0002 others(9): Show a0004c0004t0002 a0004c0004t0006 a0004c0005t0002 a0005c0006t0002 a0005c0006t0006 a0010c0009t0002 a0013c0014t0002 a0022c0056t0005 a0032c0057t0006 a0034c0039t0005 a0050c0035t0001 a0051c0023t0002	a0004c0004t0002g0005 a0004c0004t0002g0075 a0004c0004t0006g0088 others(16): Show a0004c0004t0002g0005 a0004c0004t0002g0075 a0004c0004t0006g0088 a0004c0005t0002g0011 a0004c0005t0002g0101 a0004c0005t0002g0102 a0005c0006t0002g0014 a0005c0006t0002g0093 a0005c0006t0002g0094 a0005c0006t0006g0095 a0010c0009t0002g0026 a0010c0009t0002g0082 a0013c0014t0002g0035 a0013c0014t0002g0096 a0022c0056t0005g0146 a0032c0057t0006g0113 a0034c0039t0005g0090 a0050c0035t0001g0089 a0051c0023t0002g0074	43	422	0.1019	-42	c.961 others(50): Show c.961_1002delCGGAAGCAGGAGGAGCAGATGGGGAAGCAGGAGGAGC AGATG	p.Arg others(13): Show p.Arg321_Met334del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1097/2367	961/1869	321/622		chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28843101	CCATCTGC others(56): Show CCATCTGCTCCTCCTGCTTCCCCATCTGCTCCTCCTGCTTCCGCATCTGC TCCTCCTGCTTCCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02258.hp2 HG02258.hp2	a0049 a0049	a0049c0037 a0049c0037	a0049c0037t0002 a0049c0037t0002	a0049c0037t0002g0100 a0049c0037t0002g0100	1	422	0.0024	-63	c.940 others(71): Show c.940_1002delCGGAAGCAGGAGGAGCAGATGCGGAAGCAGGAGGAGC AGATGGGGAAGCAGGAGGAGCAGATG	p.Arg others(13): Show p.Arg314_Met334del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1097/2367	940/1869	314/622		chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28843122	CCATCTGC others(14): Show CCATCTGCTCCTCCTGCTTCCG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00735.hp1 NA18978.hp2 HG00735.hp1 NA18978.hp2	a0017 a0017	a0017c0019 a0017c0019	a0017c0019t0001 a0017c0019t0001	a0017c0019t0001g0114 a0017c0019t0001g0124 a0017c0019t0001g0114 a0017c0019t0001g0124	2	422	0.0047	-21	c.961 others(28): Show c.961_981delCGGAAGCAGGAGGAGCAGATG	p.Arg others(13): Show p.Arg321_Met327del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	1076/2367	961/1869	321/622		chr15	TogoVar
GOLGA6L7_chr15_28836832_28853644	28843359	TCTCCTGA others(11): Show TCTCCTGATCCCGTAGCTC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(417): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.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 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(49): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0032 a0033 a0034 a0035 a0036 a0037 a0038 a0039 a0040 a0041 a0042 a0043 a0044 a0045 a0046 a0047 a0048 a0049 a0050 a0051 a0052 a0053	a0001c0001 a0002c0002 a0003c0003 others(53): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0004c0005 a0005c0006 a0006c0007 a0007c0008 a0008c0011 a0009c0010 a0010c0009 a0011c0021 a0011c0025 a0011c0036 a0011c0045 a0012c0015 a0013c0014 a0014c0013 a0015c0012 a0017c0019 a0018c0017 a0019c0018 a0020c0016 a0021c0038 a0022c0056 a0023c0055 a0024c0054 a0025c0053 a0026c0048 a0027c0049 a0028c0050 a0029c0051 a0030c0052 a0031c0047 a0032c0057 a0033c0046 a0034c0039 a0035c0040 a0036c0042 a0037c0041 a0038c0034 a0039c0033 a0040c0027 a0041c0029 a0042c0028 a0043c0022 a0044c0032 a0045c0030 a0046c0031 a0047c0026 a0048c0024 a0049c0037 a0050c0035 a0051c0023 a0052c0044 a0053c0043	a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 others(70): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0005 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0002c0002t0001 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0014 a0003c0003t0002 a0003c0003t0005 a0003c0003t0006 a0004c0004t0002 a0004c0004t0006 a0004c0005t0002 a0005c0006t0002 a0005c0006t0006 a0006c0007t0001 a0006c0007t0003 a0007c0008t0002 a0007c0008t0006 a0008c0011t0002 a0009c0010t0001 a0010c0009t0002 a0011c0021t0001 a0011c0025t0001 a0011c0036t0004 a0011c0045t0001 a0012c0015t0001 a0013c0014t0002 a0014c0013t0001 a0014c0013t0015 a0014c0013t0016 a0015c0012t0001 a0017c0019t0001 a0018c0017t0002 a0019c0018t0007 a0020c0016t0002 a0021c0038t0001 a0022c0056t0005 a0023c0055t0001 a0024c0054t0002 a0025c0053t0001 a0026c0048t0001 a0027c0049t0001 a0028c0050t0001 a0029c0051t0001 a0030c0052t0001 a0031c0047t0001 a0032c0057t0006 a0033c0046t0002 a0034c0039t0005 a0035c0040t0005 a0036c0042t0002 a0037c0041t0002 a0038c0034t0002 a0039c0033t0001 a0040c0027t0002 a0041c0029t0002 a0042c0028t0001 a0043c0022t0005 a0044c0032t0003 a0045c0030t0003 a0046c0031t0003 a0047c0026t0002 a0048c0024t0003 a0049c0037t0002 a0050c0035t0001 a0051c0023t0002 a0052c0044t0012 a0053c0043t0011	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(144): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0028 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0066 a0001c0001t0001g0105 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0004g0008 a0001c0001t0004g0029 a0001c0001t0004g0115 a0001c0001t0004g0130 a0001c0001t0004g0139 a0001c0001t0005g0041 a0001c0001t0005g0110 a0001c0001t0005g0121 a0001c0001t0005g0135 a0001c0001t0009g0039 a0001c0001t0010g0047 a0001c0001t0013g0120 a0002c0002t0001g0023 a0002c0002t0001g0052 a0002c0002t0001g0057 a0002c0002t0003g0006 a0002c0002t0003g0009 a0002c0002t0003g0016 a0002c0002t0003g0020 a0002c0002t0003g0021 a0002c0002t0003g0022 a0002c0002t0003g0051 a0002c0002t0003g0059 a0002c0002t0003g0060 a0002c0002t0003g0062 a0002c0002t0003g0065 a0002c0002t0005g0061 a0002c0002t0008g0032 a0002c0002t0014g0053 a0003c0003t0002g0002 a0003c0003t0002g0024 a0003c0003t0002g0034 a0003c0003t0002g0055 a0003c0003t0002g0073 a0003c0003t0002g0085 a0003c0003t0002g0086 a0003c0003t0005g0017 a0003c0003t0006g0077 a0003c0003t0006g0079 a0004c0004t0002g0005 a0004c0004t0002g0075 a0004c0004t0006g0088 a0004c0005t0002g0011 a0004c0005t0002g0101 a0004c0005t0002g0102 a0005c0006t0002g0014 a0005c0006t0002g0093 a0005c0006t0002g0094 a0005c0006t0006g0095 a0006c0007t0001g0045 a0006c0007t0003g0042 a0006c0007t0003g0131 a0006c0007t0003g0136 a0007c0008t0002g0025 a0007c0008t0002g0144 a0007c0008t0006g0081 a0008c0011t0002g0018 a0009c0010t0001g0033 a0009c0010t0001g0067 a0009c0010t0001g0068 a0010c0009t0002g0026 a0010c0009t0002g0082 a0011c0021t0001g0072 a0011c0025t0001g0064 a0011c0036t0004g0103 a0011c0045t0001g0087 a0012c0015t0001g0030 a0013c0014t0002g0035 a0013c0014t0002g0096 a0014c0013t0001g0091 a0014c0013t0015g0147 a0014c0013t0016g0148 a0015c0012t0001g0027 a0017c0019t0001g0114 a0017c0019t0001g0124 a0018c0017t0002g0054 a0018c0017t0002g0080 a0019c0018t0007g0031 a0020c0016t0002g0069 a0020c0016t0002g0070 a0021c0038t0001g0106 a0022c0056t0005g0146 a0023c0055t0001g0123 a0024c0054t0002g0128 a0025c0053t0001g0127 a0026c0048t0001g0107 a0027c0049t0001g0119 a0028c0050t0001g0133 a0029c0051t0001g0132 a0030c0052t0001g0122 a0031c0047t0001g0118 a0032c0057t0006g0113 a0033c0046t0002g0145 a0034c0039t0005g0090 a0035c0040t0005g0092 a0036c0042t0002g0097 a0037c0041t0002g0098 a0038c0034t0002g0099 a0039c0033t0001g0083 a0040c0027t0002g0076 a0041c0029t0002g0084 a0042c0028t0001g0056 a0043c0022t0005g0071 a0044c0032t0003g0058 a0045c0030t0003g0063 a0046c0031t0003g0104 a0047c0026t0002g0078 a0048c0024t0003g0050 a0049c0037t0002g0100 a0050c0035t0001g0089 a0051c0023t0002g0074 a0052c0044t0012g0048 a0053c0043t0011g0049	420	422	0.9953	-18	c.727 others(25): Show c.727_744delGAGCTACGGGATCAGGAG	p.Glu others(13): Show p.Glu243_Glu248del	GOLGA6L7	ENSG00000261649.7	transcript	ENST00000567390.7	protein_coding	9/9	839/2367	727/1869	243/622		chr15	TogoVar
GOLGA8N_chr15_32588456_32612237	32598157	GAGA GAGA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG01516.hp2 HG06807.hp2 HG00099.hp1 HG01516.hp2 HG06807.hp2	a0022 a0037 a0022 a0037	a0022c0022 a0037c0039 a0022c0022 a0037c0039	a0022c0022t0013 a0037c0039t0013 a0022c0022t0013 a0037c0039t0013	a0022c0022t0013g0015 a0037c0039t0013g0015 a0022c0022t0013g0015 a0037c0039t0013g0015	3	286	0.0105	-3	c.580 others(10): Show c.580_582delAAG	p.Lys others(6): Show p.Lys194del	GOLGA8N	ENSG00000232653.9	transcript	ENST00000448387.7	protein_coding	8/19	678/5256	580/1899	194/632	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA8N_chr15_32588456_32612237	32599749	GCAA GCAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02258.hp2 HG02970.hp1 NA19030.hp2 HG02258.hp2 HG02970.hp1 NA19030.hp2	a0029 a0038 a0029 a0038	a0029c0030 a0038c0038 a0029c0030 a0038c0038	a0029c0030t0016 a0038c0038t0044 a0029c0030t0016 a0038c0038t0044	a0029c0030t0016g0098 a0029c0030t0016g0102 a0038c0038t0044g0056 a0029c0030t0016g0098 a0029c0030t0016g0102 a0038c0038t0044g0056	3	286	0.0105	-3	c.814 others(10): Show c.814_816delCAA	p.Gln others(6): Show p.Gln272del	GOLGA8N	ENSG00000232653.9	transcript	ENST00000448387.7	protein_coding	11/19	912/5256	814/1899	272/632		chr15	TogoVar
GOLGA8Q_chr15_30547050_30570684	30558273	GCAA GCAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01175.hp1 HG01243.hp2 HG01358.hp2 others(23): Show HG01175.hp1 HG01243.hp2 HG01358.hp2 HG01943.hp2 HG01975.hp1 HG01993.hp2 HG02145.hp1 HG02145.hp2 HG02257.hp1 HG02717.hp1 HG02717.hp2 HG02970.hp1 HG02970.hp2 HG03139.hp1 HG03139.hp2 HG03453.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 NA18957.hp2 NA18961.hp1 NA19000.hp1 NA19000.hp2 NA19007.hp1 NA19240.hp2 NA20300.hp2	a0002 a0009 a0010 others(4): Show a0002 a0009 a0010 a0011 a0016 a0017 a0018	a0002c0002 a0002c0004 a0009c0008 others(5): Show a0002c0002 a0002c0004 a0009c0008 a0010c0009 a0011c0019 a0016c0012 a0017c0014 a0018c0013	a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 others(11): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0008 a0002c0002t0018 a0002c0004t0001 a0002c0004t0002 a0002c0004t0003 a0009c0008t0002 a0010c0009t0001 a0011c0019t0008 a0016c0012t0005 a0017c0014t0001 a0018c0013t0001	a0002c0002t0002g0014 a0002c0002t0002g0026 a0002c0002t0003g0062 others(21): Show a0002c0002t0002g0014 a0002c0002t0002g0026 a0002c0002t0003g0062 a0002c0002t0005g0035 a0002c0002t0005g0052 a0002c0002t0005g0058 a0002c0002t0005g0067 a0002c0002t0008g0060 a0002c0002t0018g0030 a0002c0004t0001g0022 a0002c0004t0002g0013 a0002c0004t0002g0027 a0002c0004t0003g0013 a0002c0004t0003g0015 a0002c0004t0003g0065 a0002c0004t0003g0066 a0009c0008t0002g0063 a0009c0008t0002g0064 a0010c0009t0001g0012 a0010c0009t0001g0053 a0011c0019t0008g0061 a0016c0012t0005g0051 a0017c0014t0001g0055 a0018c0013t0001g0012	26	126	0.2064	-3	c.814 others(10): Show c.814_816delCAA	p.Gln others(6): Show p.Gln272del	GOLGA8Q	ENSG00000178115.12	transcript	ENST00000562783.2	protein_coding	11/19	842/5110	814/1899	272/632		chr15	TogoVar
GOLGA8S_chr15_23349748_23373341	23360743	AAGG AAGG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01074.hp2 HG01081.hp1 HG01361.hp2 others(3): Show HG01074.hp2 HG01081.hp1 HG01361.hp2 HG03491.hp1 HG03492.hp1 HG04228.hp2	a0013 a0085 a0013 a0085	a0013c0010 a0085c0051 a0013c0010 a0085c0051	a0013c0010t0001 a0085c0051t0006 a0013c0010t0001 a0085c0051t0006	a0013c0010t0001g0056 a0013c0010t0001g0224 a0013c0010t0001g0277 others(2): Show a0013c0010t0001g0056 a0013c0010t0001g0224 a0013c0010t0001g0277 a0013c0010t0001g0278 a0085c0051t0006g0223	6	430	0.0140	-3	c.844 others(10): Show c.844_846delGAG	p.Glu others(6): Show p.Glu282del	GOLGA8S	ENSG00000261739.3	transcript	ENST00000562295.3	protein_coding	11/19	906/5186	844/1917	282/638	INFO_REALIGN_3_PRIME	chr15	TogoVar
GP1BA_chr17_4927277_4940023	4933822	AAGCCCGA others(71): Show AAGCCCGACCACCCCAGAGCCCACCTCAGAGCCCGCCCCCAGCCCGACCA CCCCGGAGCCCACCTCAGAGCCCGCCCCC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00423.hp1 HG00673.hp2 others(73): Show HG00099.hp1 HG00423.hp1 HG00673.hp2 HG01109.hp1 HG01123.hp2 HG01256.hp2 HG02040.hp1 HG02040.hp2 HG02083.hp1 HG02109.hp1 HG02129.hp1 HG02155.hp2 HG02523.hp2 HG02735.hp2 HG02922.hp1 HG03017.hp2 HG03225.hp1 HG03492.hp2 HG03540.hp1 HG03654.hp2 HG03688.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp2 HG03834.hp1 NA18522.hp2 NA18747.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18947.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18953.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18964.hp2 NA18965.hp2 NA18966.hp1 NA18971.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp2 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp2 NA18993.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp2 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19070.hp1 NA19078.hp2 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp2 NA19086.hp1 NA20905.hp1	a0002 a0006 a0009 a0002 a0006 a0009	a0002c0002 a0006c0007 a0009c0010 a0002c0002 a0006c0007 a0009c0010	a0002c0002t0001 a0002c0002t0003 a0006c0007t0003 others(1): Show a0002c0002t0001 a0002c0002t0003 a0006c0007t0003 a0009c0010t0001	a0002c0002t0001g0001 a0002c0002t0003g0001 a0006c0007t0003g0001 others(1): Show a0002c0002t0001g0001 a0002c0002t0003g0001 a0006c0007t0003g0001 a0009c0010t0001g0001	76	424	0.1793	-78	c.128 others(87): Show c.1282_1359delTCAGAGCCCGCCCCCAGCCCGACCACCCCAGAGCCC ACCTCAGAGCCCGCCCCCAGCCCGACCACCCCGGAGCCCACC	p.Ser others(13): Show p.Ser428_Thr453del	GP1BA	ENSG00000185245.9	transcript	ENST00000329125.6	protein_coding	2/2	1377/2514	1282/1959	428/652	INFO_REALIGN_3_PRIME	chr17	TogoVar
GPC2_chr7_100164606_100182381	100175619	CATCGGTA others(17): Show CATCGGTAGATGAGGCCAAGCGTGA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19059.hp2 NA19059.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0033 a0003c0006t0002g0033	1	400	0.0025	-24	c.577 others(31): Show c.577_600delTCACGCTTGGCCTCATCTACCGAT	p.Ser others(13): Show p.Ser193_Asp200del	GPC2	ENSG00000213420.8	transcript	ENST00000292377.4	protein_coding	3/10	782/2546	577/1740	193/579		chr7	TogoVar
GPR179_chr17_38319571_38348956	38330877	GGGCCCCT others(20): Show GGGCCCCTCGAGGCCGCTCCAGCCTCCT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18978.hp2 NA18978.hp2	a0037 a0037	a0037c0048 a0037c0048	a0037c0048t0001 a0037c0048t0001	a0037c0048t0001g0101 a0037c0048t0001g0101	1	339	0.0030	-27	c.266 others(36): Show c.2665_2691delAGGAGGCTGGAGCGGCCTCGAGGGGCC	p.Arg others(13): Show p.Arg889_Ala897del	GPR179	ENSG00000277399.6	transcript	ENST00000616987.5	protein_coding	11/11	2858/9165	2665/7104	889/2367		chr17	TogoVar
GPR50_chrX_151171584_151186465	151180856	TCCAAGCC others(14): Show TCCAAGCCTGCCTCTGGTCACC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18968.hp1 NA18999.hp1 NA19063.hp1 NA18968.hp1 NA18999.hp1 NA19063.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0008 a0007c0007t0001g0008	3	356	0.0084	-21	c.127 others(30): Show c.1279_1299delCCTGCCTCTGGTCACCCCAAG	p.Pro others(13): Show p.Pro427_Lys433del	GPR50	ENSG00000102195.10	transcript	ENST00000218316.4	protein_coding	2/2	1417/2020	1279/1854	427/617	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPRASP2_chrX_102707448_102722733	102715243	AGGCCCAG others(5): Show AGGCCCAGGCATG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02976.hp2 HG03471.hp1 NA18906.hp2 HG02976.hp2 HG03471.hp1 NA18906.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	3	293	0.0102	-12	c.382 others(19): Show c.382_393delGCATGGGCCCAG	p.Ala others(13): Show p.Ala128_Gln131del	GPRASP2	ENSG00000158301.20	transcript	ENST00000483720.7	protein_coding	5/5	1054/3536	382/2517	128/838	INFO_REALIGN_3_PRIME	chrX	TogoVar
GPSM1_chr9_136322539_136364601	136356540	TCAAGTAC others(15): Show TCAAGTACCAGGTGGGCTGCGGC	T T	splice_donor_variant others(3): Show splice_donor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA18942.hp1 NA18942.hp1	a0000 a0000	a0000c0021 a0000c0021	a0000c0021t0004 a0000c0021t0004	a0000c0021t0004g0256 a0000c0021t0004g0256	1	400	0.0025	-22	c.181 others(34): Show c.1813_1821+13delAAGTACCAGGTGGGCTGCGGCC	p.Lys others(13): Show p.Lys605_Gln607del	GPSM1	ENSG00000160360.13	transcript	ENST00000440944.6	protein_coding	13/14	1970/3566	1813/2028	605/675	INFO_REALIGN_3_PRIME	chr9	TogoVar
GREB1L_chr18_21237232_21531112	21452083	GCGATGAC others(5): Show GCGATGACCTAGA	G G	conservative_inframe_deletion others(1): Show conservative_inframe_deletion splice_region_variant	MODERATE	HG01167.hp2 HG01169.hp2 NA18906.hp2 HG01167.hp2 HG01169.hp2 NA18906.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0006 a0003c0004t0006	a0003c0004t0006g0052 a0003c0004t0006g0053 a0003c0004t0006g0054 a0003c0004t0006g0052 a0003c0004t0006g0053 a0003c0004t0006g0054	3	148	0.0203	-12	c.185 others(21): Show c.1852_1863delGATGACCTAGAC	p.Asp others(13): Show p.Asp618_Asp621del	GREB1L	ENSG00000141449.16	transcript	ENST00000424526.7	protein_coding	14/33	2133/9344	1852/5772	618/1923	INFO_REALIGN_3_PRIME	chr18	TogoVar
GRIN2D_chr19_48388668_48449931	48443623	CCGCACCG others(11): Show CCGCACCGCCCGCGGGCCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA19065.hp2 NA19065.hp2	a0004 a0004	a0004c0016 a0004c0016	a0004c0016t0001 a0004c0016t0001	a0004c0016t0001g0015 a0004c0016t0001g0015	1	366	0.0027	-18	c.370 others(27): Show c.3706_3723delCCGCGGGCCTCGCACCGC	p.Pro others(15): Show p.Pro1236_Arg1241del	GRIN2D	ENSG00000105464.4	transcript	ENST00000263269.4	protein_coding	14/14	4212/5511	3706/4011	1236/1336	INFO_REALIGN_3_PRIME	chr19	TogoVar
GRIN3B_chr19_995419_1014732	1009186	GAGC GAGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00408.hp1 HG00423.hp2 HG00597.hp1 others(60): Show HG00408.hp1 HG00423.hp2 HG00597.hp1 HG00735.hp2 HG00738.hp1 HG01099.hp2 HG01243.hp2 HG01978.hp1 HG02055.hp1 HG02071.hp2 HG02074.hp2 HG02258.hp1 HG02615.hp1 HG02683.hp2 HG02809.hp1 HG02818.hp2 HG03017.hp2 HG03209.hp1 HG03239.hp1 HG03516.hp2 HG03710.hp1 HG04184.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18939.hp1 NA18940.hp1 NA18942.hp2 NA18945.hp1 NA18949.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18973.hp2 NA18974.hp2 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18986.hp2 NA18991.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19003.hp1 NA19007.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19059.hp2 NA19068.hp2 NA19076.hp1 NA19078.hp2 NA19079.hp1 NA19082.hp2 NA19084.hp2 NA19086.hp1 NA19089.hp1 NA20905.hp1	a0002 a0013 a0028 others(11): Show a0002 a0013 a0028 a0030 a0042 a0046 a0054 a0055 a0059 a0060 a0062 a0065 a0083 a0096	a0002c0003 a0002c0021 a0002c0052 others(16): Show a0002c0003 a0002c0021 a0002c0052 a0002c0099 a0002c0114 a0013c0012 a0028c0047 a0030c0116 a0030c0143 a0042c0043 a0046c0130 a0054c0094 a0055c0098 a0059c0101 a0060c0102 a0062c0105 a0065c0125 a0083c0063 a0096c0083	a0002c0003t0001 a0002c0021t0001 a0002c0052t0001 others(16): Show a0002c0003t0001 a0002c0021t0001 a0002c0052t0001 a0002c0099t0001 a0002c0114t0001 a0013c0012t0001 a0028c0047t0001 a0030c0116t0001 a0030c0143t0001 a0042c0043t0001 a0046c0130t0001 a0054c0094t0001 a0055c0098t0001 a0059c0101t0001 a0060c0102t0001 a0062c0105t0001 a0065c0125t0001 a0083c0063t0002 a0096c0083t0001	a0002c0003t0001g0001 a0002c0003t0001g0035 a0002c0003t0001g0036 others(37): Show a0002c0003t0001g0001 a0002c0003t0001g0035 a0002c0003t0001g0036 a0002c0003t0001g0058 a0002c0003t0001g0059 a0002c0003t0001g0060 a0002c0003t0001g0064 a0002c0003t0001g0102 a0002c0003t0001g0116 a0002c0003t0001g0117 a0002c0003t0001g0118 a0002c0003t0001g0170 a0002c0003t0001g0171 a0002c0003t0001g0172 a0002c0003t0001g0173 a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0179 a0002c0003t0001g0180 a0002c0021t0001g0001 a0002c0052t0001g0001 a0002c0099t0001g0036 a0002c0114t0001g0064 a0013c0012t0001g0013 a0013c0012t0001g0106 a0013c0012t0001g0107 a0028c0047t0001g0001 a0030c0116t0001g0157 a0030c0143t0001g0119 a0042c0043t0001g0001 a0042c0043t0001g0036 a0046c0130t0001g0202 a0054c0094t0001g0001 a0055c0098t0001g0001 a0059c0101t0001g0001 a0060c0102t0001g0001 a0062c0105t0001g0184 a0065c0125t0001g0135 a0083c0063t0002g0098 a0096c0083t0001g0101	63	446	0.1413	-3	c.273 others(12): Show c.2734_2736delCAG	p.Gln others(6): Show p.Gln912del	GRIN3B	ENSG00000116032.5	transcript	ENST00000234389.3	protein_coding	9/9	2753/3281	2734/3132	912/1043	INFO_REALIGN_3_PRIME	chr19	TogoVar
GRM6_chr5_178973327_179000320	178994872	CCGCCTGC others(8): Show CCGCCTGCGCCAGCCA	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02922.hp2 HG02922.hp2	a0016 a0016	a0016c0034 a0016c0034	a0016c0034t0005 a0016c0034t0005	a0016c0034t0005g0170 a0016c0034t0005g0170	1	468	0.0021	-15	c.58_ others(20): Show c.58_72delTGGCTGGCGCAGGCG	p.Trp others(11): Show p.Trp20_Ala24del	GRM6	ENSG00000113262.16	transcript	ENST00000517717.3	protein_coding	2/11	133/6025	58/2634	20/877		chr5	TogoVar
GSE1_chr16_85608322_85681200	85656394	CGAGCGT CGAGCGT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00738.hp2 HG01109.hp2 others(15): Show HG00099.hp1 HG00738.hp2 HG01109.hp2 HG01496.hp2 HG01891.hp2 HG02027.hp2 HG02451.hp2 HG02630.hp2 HG02970.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp2 NA18522.hp2 NA19011.hp1 NA19066.hp2 NA19090.hp2 NA19240.hp2	a0002 a0016 a0019 others(1): Show a0002 a0016 a0019 a0032	a0002c0006 a0002c0008 a0002c0016 others(5): Show a0002c0006 a0002c0008 a0002c0016 a0002c0030 a0002c0040 a0016c0029 a0019c0025 a0032c0057	a0002c0006t0001 a0002c0008t0001 a0002c0008t0036 others(7): Show a0002c0006t0001 a0002c0008t0001 a0002c0008t0036 a0002c0008t0070 a0002c0016t0003 a0002c0030t0003 a0002c0040t0001 a0016c0029t0003 a0019c0025t0024 a0032c0057t0003	a0002c0006t0001g0113 a0002c0006t0001g0216 a0002c0006t0001g0221 others(15): Show a0002c0006t0001g0113 a0002c0006t0001g0216 a0002c0006t0001g0221 a0002c0006t0001g0222 a0002c0006t0001g0242 a0002c0006t0001g0253 a0002c0006t0001g0255 a0002c0008t0001g0168 a0002c0008t0001g0218 a0002c0008t0036g0277 a0002c0008t0070g0060 a0002c0016t0003g0046 a0002c0016t0003g0104 a0002c0030t0003g0023 a0002c0040t0001g0064 a0016c0029t0003g0100 a0019c0025t0024g0275 a0032c0057t0003g0058	18	290	0.0621	-6	c.105 others(15): Show c.1051_1056delCGTGAG	p.Arg others(13): Show p.Arg351_Glu352del	GSE1	ENSG00000131149.19	transcript	ENST00000253458.12	protein_coding	7/16	1121/7385	1051/3654	351/1217	INFO_REALIGN_3_PRIME	chr16	TogoVar
GSPT2_chrX_51738442_51751232	51744170	GAAA GAAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18953.hp1 NA18953.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0000 a0004c0006t0003g0000	1	312	0.0032	-3	c.547 others(10): Show c.547_549delAAA	p.Lys others(6): Show p.Lys183del	GSPT2	ENSG00000189369.9	transcript	ENST00000340438.6	protein_coding	1/1	732/2791	547/1887	183/628	INFO_REALIGN_3_PRIME	chrX	TogoVar
GUCA2B_chr1_42148410_42160820	42154699	AGCTGGAA others(5): Show AGCTGGAATCCAT	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18960.hp1 NA18960.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0014 a0005c0006t0001g0014	1	442	0.0023	-12	c.112 others(19): Show c.112_123delCTGGAATCCATG	p.Leu others(11): Show p.Leu38_Met41del	GUCA2B	ENSG00000044012.4	transcript	ENST00000372581.2	protein_coding	2/3	153/604	112/339	38/112	INFO_REALIGN_3_PRIME	chr1	TogoVar
GXYLT1_chr12_42076845_42149874	42144454	GGCCCGCG others(32): Show GGCCCGCGACGCCGGCGCCTCTCACGGCGCCGCGTCCGCC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02015.hp2 HG02809.hp2 NA19062.hp2 HG02015.hp2 HG02809.hp2 NA19062.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0051 a0002c0004t0002 a0002c0004t0051	a0002c0004t0002g0007 a0002c0004t0051g0342 a0002c0004t0002g0007 a0002c0004t0051g0342	3	398	0.0075	-39	c.154 others(46): Show c.154_192delGGCGGACGCGGCGCCGTGAGAGGCGCCGGCGTCGCGGG C	p.Gly others(11): Show p.Gly52_Gly64del	GXYLT1	ENSG00000151233.11	transcript	ENST00000398675.8	protein_coding	1/8	420/7492	154/1323	52/440		chr12	TogoVar
GYPC_chr2_126651158_126701667	126690214	GTCTTCCT others(3602): Show GTCTTCCTCTCTGACCTCAGATTCTTGTCCTCTGTTCACAGAGCCTGATC CGGGGATGGCCTCTGCCTCCACCACAATGCATACTACCACCATTGCAGGT GAGTTCTCATCACAGAGCCTCACCATAATGGAAACTGCCGTGACTTCAGA TGAGCTCTCATCACAGAGCCCTTTAAGCAGCCAGGGTTGGGGGACTTGGT GAAAACATCCAGGGGAGAACTGACCTAAGGACTTGGACAGGGGTGGCTGT GGCCATTTTTTCTCTCCCTCAGAGGTGGTTTTGAATGTGGAATGGAGGAG TCTACCCCTGGGTAAATAAATATACATAGGTATGTCATATGTATCTGTAT TTATATTTATTGGCCTTTCTCAGGGCTGTTGACTCACAGGAACTCAGGAG CTGGAGAGGCAGCAGTTTTGGTGAGGGAGGTTGAGGGTGGAGGTGAGATG AGGGTAGACTGACCAGGCTACTTAGACTTCTCCACCGTCTCCCTCATCCC ACATTATTTTCTTCCCTGGGTCCATGACCCCCAACCCTCCATCCTCAAGG AAACTTGAGCCTGCCTTTGCCTTGCTTTGAACCCTGAGCAACGGGCTCCC CATGGGTCATGGCTGTGACTGCAAACTGTGTTTGAAGAACAACCAAGTTT GGGAGGTGCTGTGTGCTCTGCGACCTTCTTTGAGATCCACACTTCTCAGC AGCTTATTAATAACTCAGGAAACATCTACAATTTGAAAAGAAAGAAAAAG CAGCAGAAGCAAGCAATCAAAGACACCTGTTGGACTCTGTGTAACCTGGC ATTCTCCAACTCATTGCACCACTGAGCTTTTATTCTTCCTAGGTGATATT ATTAACATTATGCAGATACAAGTGTTCCCCTGAAGGCAGTAGGAAGTTTA GGAAATTGTTCTATAAAGGTGGGACTTGGGAGCAGTTTCAGACTTTCCAT ATTCTTCAGCAGTCCCTCCCCAAGGCCTCCAAATAAACCTGCATTCTAAG AAAAGACAGAGGCTTGCTCTGCAGCTTCAAAGTAAATGCCCAAACTCAAA ACACCCCCACCCCATGAGACTGCTGCCCCCTCACTCTCAAGGTCCTGAGT GATCTGACCCCTCCTGAGCAGCCTTACACTGTACTTCCCCACCCCTCTGG AGTCCCAGCAGAAGTGAGGGGTGACTGCCCCTCGCACAGCCAACACCTTG GCATTCTCTGCGTTACCCTCTCCCACTTCAGTCCTTTGTGTGGCCAAGTC CTGCTCCTCCTGCAGACTCACCCCAGTCCTCAATCGCCAGGAGGGAATGG GAGCAGGGTAGGCTGAGGAGCAGTCATCGGGCCATTGAAAAACACAAACC ACACAACCTGCCCCAAGCACAGTTAATAGCCTCATTTTTCCCCCTGTATA GTGTACATACAGCAACCAGCTCTGCCCTGTTTTCTGGGACTTCCCTGGTT TTAGAATGAATAATCTCCAAGCAGTGTTCTTGCAACTGTTGCAAGGACCA TGTTAAATTGCTTTAAATGTTGAGACCTGCACCTGGCACCTAGTAAGCGA TTGTTAGTTGTTTTAAAGGAAGAGGAAATAACAGTCTCTTCTAACGCTGA TTGTGTTGGACAAACTGTCCTAATAAATGCTGTCTTCACCTGGAAAATTT CTGAGGGCAGTTCTGGGTATTTGAGCTTCTATAACCATCCATGCCTACTT AAGCAAGGTGTTATTCTTTCTTTCTGAACTTTGAGGTGCTTGTTGATTGG AAAAGTCTAGAACCCCACCACTAAATCCATTCATTTATATATGCATGCAT TTACTCATGCATTCAGTGAATATTTATTGAGTACCTACTATGTGCTAGAT ACTAAACTGGAGGCTGCACTTGTTCACTCTATATAATAAAGTCTAGCACC CACTTGAACTTGCTACGGCCCTTGCTTCAGGTCTTGCTACTGAGAAACAC CGTGAATGCTGGATCCTATACCCTGCCTGGTTCCTGGCTCCCGAGACCCA GATCCTGAGCCAGTGTTCACTGGGTCCCTGGGCTGCCTCAGTGCCTTGTA TTATCTTCTTCCCCACCTCCAAGCTCCTTGGTGGCCCCAGACACCCCTAG CTTGGCCCATCTGTGTCCTGCTGTGGACCCCTAGCTGGGAGTCTGTTTTC CCCTCACCCATTATGACTCCTGACTCCAGCAGGCAGTTACTTATAAGAAA GAGGCATCTGGCAGCTGCACTGGGGAGAATGACCTCATAGCACTATAATT AAAGTGATTATCTGAGTGGAAATGACTATTATGAAGCATCCTTCTCTGTT TTATTATGTAGAGCCATTGTAATGGGAACGTGGGATTTCCTATGTTAACA CTGATATTTCTGTGATCCAATAAATCCTTCTTCACAATCATCTCCCAGAG GAGAGAAGGCATTCTGTGCAGCAGCTCTAGGAAACATCCCGGTCCCCAAT GTCCTAGACATCCTACCCTCTTTGGCCAGGTCATTAAGCTGTGAAAAAAC ACACTCAGTAACTTGGATAGTGTCATAGAGTGGTCCTTCCCACAGCAGAG TCAATGTAAAGACCTATGGGAGGGCTTCAGGAATGACTCCTCAGACAGGA GCCCTGGGAAGGGCTTCTCCAAGAGAGAAAGTGCACTCCAGAGGCAAGAG CACTGGCCAAGTCCTGACCTGATATCGGATGAGCTGTGTGATCAAGGGCA CATCACGTCTCTGAACCTTGGTGTTCTTCCTGTGAGATGGGCCATTAACA CCAGGCACCTCATAGGATGGATGTGAAGACTGCATGATAGAGTAGATAGA AGGCAGTTAAAGCAACACCTGGTGCTATGGTTTGGATGTGGTTTGACCCT GCAAAAGCTCATGTTGAAATCTGATTCCCAAGGTGGCAGTGATGGGAGGT GGGACCTAGTGGGAGATATTTGAGTCACAGGGGCAGATCCCTCATGCATA CATTAATACCCCCTTGAGGGAGGGAGGGAGTTCTAGCTGTCGTGAGACTG GATTAGTCACTGGAGAGCAGGTTGTTATAAAAGCAAATTCAGCTTTCTAA ACTCTCTTGCTTTCTATATCACCTTGTGGTCTCTTTGCGAATGTCAGATC CCCTTCTGCTTTTTGCCATGAGTGGGAGTAGTATGAGGCCCTCACCAGAT GCAGCTGCCCAATTTGGACTTCCCAGCCACTAGAACTGTGAGCCAAATAA ACCTCTCTTCTTTATAAATTACCCAAGTATTCAGCTATAGCAACACAAAA TGGACTGAGACACCTGGTGTGAGCATCAGACACTCCACAAACATTCTTTC TTAAACACAACAAGAGTCCCTGCCTTCATACACAGCACAGATATCTGTTG AGCATCTACCACGTGCAGCACCACTCTCAGTGCAGGCATTAGGCAGATAA CTCAAATGGGCCTGGAGTGACCTGGTGGTTCAGGTTCAAACAGTTCCATC CCAGTCAGTGACCAAGCAGAACCTGGTTCCTGGTCTGTGCATCCCTGCTA GGAGCAGTGGGTGCGCCGCACTGCTCCTTTCCACTTGGACCCATTCTCAG AGCTGCTCACACCTGAGCAAAGGATGCAGCTTGGGCCAAGGTGCTGCTAG GCATGGAGAA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01257.hp2 HG01258.hp1 HG01257.hp2 HG01258.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0001 a0006c0006t0001	a0006c0006t0001g0025 a0006c0006t0001g0025	2	416	0.0048	-3609	c.60_ others(6): Show c.60_116del	p.Pro others(11): Show p.Pro20_Asp38del	GYPC	ENSG00000136732.16	transcript	ENST00000259254.9	protein_coding	3/4	166/1018	60/387	20/128	INFO_REALIGN_3_PRIME	chr2	TogoVar
H1-6_chr6_26102412_26113135	26107487	CCTTTCTA others(107): Show CCTTTCTAACATTAACTTCATGATGTTGGGTCAATTTTGACTTCGAAGCC CTTGCCTTCACTGGGCTCTTCTGCTGTTGCTTACCCTTGGCTCCTTTAGC CTTTCTCCCGCTCCT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02976.hp2 HG02976.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0001 a0007c0011t0001	a0007c0011t0001g0000 a0007c0011t0001g0000	1	408	0.0025	-114	c.493 others(7): Show c.493_606del	p.Arg others(13): Show p.Arg165_Lys202del	H1-6	ENSG00000187475.6	transcript	ENST00000338379.6	protein_coding	1/1	648/724	493/624	165/207		chr6	TogoVar
H2AL3_chrX_37989272_37999904	37994691	AGAG AGAG	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(46): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00733.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01106.hp1 HG01123.hp1 HG01168.hp1 HG01175.hp1 HG01256.hp1 HG01261.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01928.hp1 HG01978.hp2 HG01993.hp1 HG02572.hp1 HG02683.hp1 HG02723.hp2 HG03486.hp2 HG03491.hp2 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG04115.hp1 HG04199.hp1 HG04228.hp1 NA18943.hp1 NA18944.hp1 NA18946.hp1 NA18948.hp1 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18981.hp2 NA18982.hp1 NA18993.hp2 NA18999.hp1 NA19010.hp1 NA19011.hp1 NA19074.hp2 NA19080.hp2 NA19090.hp1 NA20752.hp1 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0006 a0002c0002 a0002c0006	a0002c0002t0001 a0002c0006t0001 a0002c0002t0001 a0002c0006t0001	a0002c0002t0001g0000 a0002c0006t0001g0000 a0002c0002t0001g0000 a0002c0006t0001g0000	49	331	0.1480	-3	c.364 others(10): Show c.364_366delGAG	p.Glu others(6): Show p.Glu122del	H2AL3	ENSG00000229674.3	transcript	ENST00000448797.3	protein_coding	1/1	436/633	364/447	122/148	INFO_REALIGN_3_PRIME	chrX	TogoVar
HDAC10_chr22_50240183_50256265	50249430	GCGGTGCC others(58): Show GCGGTGCCAGGAGAAGTAAAGGACGCTGCCAACAGCCAGCCAGGGCCAGA GGTCAAAGGTCAGGAC	G G	splice_acceptor_variant others(3): Show splice_acceptor_variant conservative_inframe_deletion splice_region_variant intron_variant	HIGH	NA19072.hp2 NA19072.hp2	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0002 a0009c0025t0002	a0009c0025t0002g0044 a0009c0025t0002g0044	1	448	0.0022	-65	c.564 others(75): Show c.564-41_587delGTCCTGACCTTTGACCTCTGGCCCTGGCTGGCTGT TGGCAGCGTCCTTTACTTCTCCTGGCACCG	p.Val others(13): Show p.Val189_Arg196del	HDAC10	ENSG00000100429.18	transcript	ENST00000216271.10	protein_coding	7/20	820/2567	564/2010	188/669		chr22	TogoVar
HEATR4_chr14_73473484_73563947	73522300	GCTT GCTT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02922.hp2 HG03579.hp1 NA19079.hp1 HG02922.hp2 HG03579.hp1 NA19079.hp1	a0010 a0022 a0010 a0022	a0010c0016 a0022c0019 a0010c0016 a0022c0019	a0010c0016t0004 a0022c0019t0004 a0010c0016t0004 a0022c0019t0004	a0010c0016t0004g0146 a0010c0016t0004g0352 a0022c0019t0004g0216 a0010c0016t0004g0146 a0010c0016t0004g0352 a0022c0019t0004g0216	3	368	0.0082	-3	c.850 others(10): Show c.850_852delAAG	p.Lys others(6): Show p.Lys284del	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	3/18	1200/3551	850/3081	284/1026		chr14	TogoVar
HES5_chr1_2523745_2535263	2529579	TGGCGGGC others(2): Show TGGCGGGCGC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18944.hp2 NA18955.hp1 NA18960.hp2 others(2): Show NA18944.hp2 NA18955.hp1 NA18960.hp2 NA18962.hp1 NA19005.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0004 a0002c0002t0001g0004	5	427	0.0117	-9	c.382 others(16): Show c.382_390delGCGCCCGCC	p.Ala others(13): Show p.Ala128_Ala130del	HES5	ENSG00000197921.6	transcript	ENST00000378453.4	protein_coding	3/3	489/1324	382/501	128/166		chr1	TogoVar
HIC1_chr17_2050103_2068241	2057110	GGGCGGCG others(5): Show GGGCGGCGGCGGC	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	NA18522.hp2 NA18522.hp2	a0009 a0009	a0009c0017 a0009c0017	a0009c0017t0001 a0009c0017t0001	a0009c0017t0001g0001 a0009c0017t0001g0001	1	414	0.0024	-12	c.433 others(19): Show c.433_444delGGCGGCGGCGGC	p.Gly others(13): Show p.Gly145_Gly148del	HIC1	ENSG00000177374.13	transcript	ENST00000619757.5	protein_coding	2/2	589/6707	433/2145	145/714	INFO_REALIGN_3_PRIME	chr17	TogoVar
HIP1R_chr12_122830457_122867961	122856099	GGCCCAGC others(8): Show GGCCCAGCTGAGGGCT	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02040.hp2 HG02040.hp2	a0012 a0012	a0012c0030 a0012c0030	a0012c0030t0001 a0012c0030t0001	a0012c0030t0001g0004 a0012c0030t0001g0004	1	348	0.0029	-15	c.125 others(24): Show c.1258_1272delAGGGCTGCCCAGCTG	p.Arg others(13): Show p.Arg420_Leu424del	HIP1R	ENSG00000130787.14	transcript	ENST00000253083.9	protein_coding	14/32	1352/4509	1258/3207	420/1068	INFO_REALIGN_3_PRIME	chr12	TogoVar
HNRNPA0_chr5_137740651_137759363	137753376	AGCCGCCG others(5): Show AGCCGCCGCCTCC	A A	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG04184.hp2 HG04184.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0060 a0003c0006t0060	a0003c0006t0060g0000 a0003c0006t0060g0000	1	368	0.0027	-12	c.679 others(19): Show c.679_690delGGAGGCGGCGGC	p.Gly others(13): Show p.Gly227_Gly230del	HNRNPA0	ENSG00000177733.7	transcript	ENST00000314940.7	protein_coding	1/1	987/8713	679/918	227/305		chr5	TogoVar
HRNR_chr1_152207076_152229193	152214266	CGGAGCCA others(2813): Show CGGAGCCAGACTCATATGGGCCACGGCTGGAAGACCACCCTGAGCCAGAC CCATATGGGCTGTAGCTGGAAGACTGCCCAGAACCAGACCCATGTCGGCC ACGGCTAGGGCTAGGAGACTGGCCAGATCCAGACCCATGTTGGCCGTGGC CCAAAGACTGACGGGAGCCAGACCCATGCTGACCATAGCTGGAAGATGAA CCTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTGTCCTGACCTAGA GCCGTGTTGTTCGTAGCTGGAGGAGTGACCTGAGCCAGATCCATGCTGAG TGTAACCAGAGGACTGCCATGAGCTAGACTCGTGGTGACCAAATCCAGAA GACTGACCTGAGCCAGACCCATGTCGGCCACTGCTGGAAGACCAACCGGA GCCAGACCCATGTTGGCCGTAGCTGGAAGAGTGCCCGGAACCGGACCCAT GTCGGCCGCGACTAGGAGACTGGCCAGATCCAGAGCCCTGTTGGCCATAG CTAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAAGACTG ACCTGTGCTAGATCCCTCCTGGTCAAAGGTTGATGACTGTCCTGATGTAG AACCATGCTGTCCTTGGCTACAGAAGTGCCCTGAGCCACTACCATGCTGA CTGTAAGCAGAGGAATGTCCTGAGCCAGACTCATGTTGACCAAAGACAGA AGAGTGACCCGAGCGAGACTCATATGGGCCACGGCTGGAAGAACGACCTG AGCCAGACCCATGTTGGCCGTGGCTGGAGGAGTGCCCCGAACCGGACCCA TGTCGGCCGCGGCTAGGGGAATGGCCAGATCCAGACCCTTGTCGGCCGTG GCCCGAAGACTGACGGGAGCCAGACCCATGCTGACCATAGCGGGAAGACG AACCTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTGTCCTGATCTA GAGCCGTGTTGTCCGTAGCCAGAGGAGTGACCTGAGCCAGACCCATGCTG ACTGTAACTAGAGGACTGCCCTGAGCTAGACTCGTGGTGACCAAAGCCAG AAGACTCGCCTAAGCCAGGCCCATGTTGGCCACTGCTGGAAGACCGACCG GAGCCAGACCCATGTCGGCCATAGCTGGGAGACTGCCTTGACCCAGACCC ACGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCCCTGTCGGCCAT AGCCAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAAGAC TGACCTGAGCTAGCTCCATGTTGGCCACAGCTCGATGACTGTCCTGATGC AGAACCATGTTGCCCATGGGTAGAGGAATGACCTGAGCTAGATCCATGTT GACCGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCGGTGACCTAAGCCA GAAGAGTGACCGGAGCCAGACTCATATGGGCCACGGCTGGAAGACCACCC TGAGCCAGACCCATATGGGCCGTAGCTGGAAGACTGCCCAGAACCAGACC CATGTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGATCCAGACCCATGT TGGCCGTGGCCCAAAGACTGACGGGAGCCAGACCCATGCTGACCATAGCT GGAAGATGAACCTGAGCTAGATCCGTGTTGTTCACCCCTAGATGACTGTC CTGACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTGACCTGAGCCAGAT CCATGCTGAGTGTAACCAGAGGACTGCCATGAGCTAGACTCATGGTGACC AAATCCAGAAGACTGACCTGAGCCAGACCCATGTCGGCCACTGCTGGAAG ACCAACCGGAGCCAGACCCATGTTGGCCGTAGCTGGAAGAGTGCCCGGAA CCGGACCCATGTCGGCCGCGACTAGGAGACTGGCCAGATCCAGAGCCCTG TTGGCCATAGCTAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGC TGGAAGACTGACCTGTGCTAGATCCCTCCTGGTCAAAGGTTGATGACTGT CCTGATGTAGAACCATGCTGTCCTTGGCTACAGAAGTGCCCTGAGCCACT ACCATGCTGACTGTAAGCAGAGGAATGTCCTGAGCCAGACTCATGTTGAC CAAAGACAGAAGAGTGACCCGAGCGAGACTCATATGGGCCACGGCTGGAA GAACGACCTGAGCCAGACCCATGTTGGCCGTGGCTGGAGGAGTGCCCCAA ACCGGACCCATGTCGGCCGCGGCTAGGGGACTGGCCAGATCCAGACCCTT GTCGGCCGTGGCCCGAAGACTGACGGGAGCCAGACCCATGCTGACCATAG CGGGAAGACGAACGTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTG TCCTGATCTAGAGCCGTGTTGTCCGTAGCCAGAGGAGTGACCTGAGCCAG ACCCATGCTGACTGTAACTAGAGGACTGCCCTGAGCTAGACTCGTGGTGA CCAAAGCCAGAAGACTCGCCTAAGCCAGACCCATGTTGGCCACTGCTGGA AGACCGACCGGAGCCAGACCCATGTCGGCCGTAGCTGGGAGACTGCCTTG ACCCAGACCCACGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCCC TGTCGGCCATAGCCAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTG GCTGGAAGACTGACCTGAGCTAGCTCCATGTTGGCCACAGCTCGATGACT GTCCTGATGTAGAACCATGTTGCCCATGGGTAGAGGAATGACCTGAGCTA GATCCATGTTGACCGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCGGTG ACCTAAGCCAGAAGAGTGACT	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG01433.hp2 HG01884.hp1 HG02109.hp1 others(5): Show HG01433.hp2 HG01884.hp1 HG02109.hp1 HG02723.hp1 HG02886.hp1 HG02922.hp2 HG03486.hp1 NA18906.hp1	a0004 a0006 a0012 a0004 a0006 a0012	a0004c0008 a0006c0022 a0012c0051 a0004c0008 a0006c0022 a0012c0051	a0004c0008t0004 a0006c0022t0004 a0012c0051t0004 a0004c0008t0004 a0006c0022t0004 a0012c0051t0004	a0004c0008t0004g0011 a0004c0008t0004g0175 a0006c0022t0004g0039 others(1): Show a0004c0008t0004g0011 a0004c0008t0004g0175 a0006c0022t0004g0039 a0012c0051t0004g0176	8	418	0.0191	-2820	c.454 others(9): Show c.4543_7362del	p.Ser others(15): Show p.Ser1515_Ser2454del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	7438/9629	4543/8553	1515/2850		chr1	TogoVar
HRNR_chr1_152207076_152229193	152215169	CTGAGCTA others(1403): Show CTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTGTCCTGATCTAGAG CCGTGTTGTCCGTAGCCAGAGGAGTGACCTGAGCCAGACCCATGCTGACT GTAACTAGAGGACTGCCCTGAGCTAGACTCGTGGTGACCAAAGCCAGAAG ACTCGCCTAAGCCAGGCCCATGTTGGCCACTGCTGGAAGACCGACCGGAG CCAGACCCATGTCGGCCATAGCTGGGAGACTGCCTTGACCCAGACCCACG CTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCCCTGTCGGCCATAGC CAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAAGACTGA CCTGAGCTAGCTCCATGTTGGCCACAGCTCGATGACTGTCCTGATGCAGA ACCATGTTGCCCATGGGTAGAGGAATGACCTGAGCTAGATCCATGTTGAC CGTAGCCAGAGGACTGTCCTGAGCGAGACTCTCGGTGACCTAAGCCAGAA GAGTGACCGGAGCCAGACTCATATGGGCCACGGCTGGAAGACCACCCTGA GCCAGACCCATATGGGCCGTAGCTGGAAGACTGCCCAGAACCAGACCCAT GTCGGCCACGGCTAGGGCTAGGAGACTGGCCAGATCCAGACCCATGTTGG CCGTGGCCCAAAGACTGACGGGAGCCAGACCCATGCTGACCATAGCTGGA AGATGAACCTGAGCTAGATCCGTGTTGTTCACCCCTAGATGACTGTCCTG ACCTAGAGCCGTGTTGTTCGTAGCTGGAGGAGTGACCTGAGCCAGATCCA TGCTGAGTGTAACCAGAGGACTGCCATGAGCTAGACTCATGGTGACCAAA TCCAGAAGACTGACCTGAGCCAGACCCATGTCGGCCACTGCTGGAAGACC AACCGGAGCCAGACCCATGTTGGCCGTAGCTGGAAGAGTGCCCGGAACCG GACCCATGTCGGCCGCGACTAGGAGACTGGCCAGATCCAGAGCCCTGTTG GCCATAGCTAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGG AAGACTGACCTGTGCTAGATCCCTCCTGGTCAAAGGTTGATGACTGTCCT GATGTAGAACCATGCTGTCCTTGGCTACAGAAGTGCCCTGAGCCACTACC ATGCTGACTGTAAGCAGAGGAATGTCCTGAGCCAGACTCATGTTGACCAA AGACAGAAGAGTGACCCGAGCGAGACTCATATGGGCCACGGCTGGAAGAA CGACCTGAGCCAGACCCATGTTGGCCGTGGCTGGAGGAGTGCCCCAAACC GGACCCATGTCGGCCGCGGCTAGGGGACTGGCCAGATCCAGACCCTTGTC GGCCGTGGCCCGAAGACTGACGGGAGCCAGACCCATGCTGACCATAGCGG GAAGACGAACG	C C	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp1 HG02145.hp1	a0011 a0011	a0011c0052 a0011c0052	a0011c0052t0004 a0011c0052t0004	a0011c0052t0004g0177 a0011c0052t0004g0177	1	418	0.0024	-1410	c.505 others(9): Show c.5050_6459del	p.Arg others(15): Show p.Arg1684_Ser2153del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	6535/9629	5050/8553	1684/2850		chr1	TogoVar
HRNR_chr1_152207076_152229193	152216177	TAGAAGAC others(695): Show TAGAAGACTGACTTGAGCCAGAGCCATGCTGACCGTGGCTGGAAGACTGA CCTGTGCTAGATCCCTCCTGGTCAAAGGTTGATGACTGTCCTGATGTAGA ACCATGCTGTCCTTGGCTACAGAAGTGCCCTGAGCCACTACCATGCTGAC TGTAAGCAGAGGAATGTCCTGAGCCAGACTCATGTTGACCAAAGACAGAA GAGTGACCCGAGCGAGACTCATATGGGCCACGGCTGGAAGAACGACCTGA GCCAGACCCATGTTGGCCGTGGCTGGAGGAGTGCCCCAAACCGGACCCAT GTCGGCCGCGGCTAGGGGACTGGCCAGATCCAGACCCTTGTCGGCCGTGG CCCGAAGACTGACGGGAGCCAGACCCATGCTGACCATAGCGGGAAGACGA ACGTGAGCTAGATCCGTGTCGTTCACCCCTAGATGACTGTCCTGATCTAG AGCCGTGTTGTCCGTAGCCAGAGGAGTGACCTGAGCCAGACCCATGCTGA CTGTAACTAGAGGACTGCCCTGAGCTAGACTCGTGGTGACCAAAGCCAGA AGACTCGCCTAAGCCAGACCCATGTTGGCCACTGCTGGAAGACCGACCGG AGCCAGACCCATGTCGGCCGTAGCTGGGAGACTGCCTTGACCCAGACCCA CGCTGGCCGTGGCCTGGAGACTGGCCAGATCCAGAGCCCTGTCGGCCATA GCC	T T	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG02145.hp2 HG02647.hp1 HG02145.hp2 HG02647.hp1	a0001 a0001	a0001c0168 a0001c0180 a0001c0168 a0001c0180	a0001c0168t0001 a0001c0180t0001 a0001c0168t0001 a0001c0180t0001	a0001c0168t0001g0059 a0001c0180t0001g0071 a0001c0168t0001g0059 a0001c0180t0001g0071	2	418	0.0048	-702	c.475 others(9): Show c.4750_5451del	p.Gly others(15): Show p.Gly1584_Ser1817del	HRNR	ENSG00000197915.7	transcript	ENST00000368801.4	protein_coding	3/3	5527/9629	4750/8553	1584/2850		chr1	TogoVar

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Search Results (Total: 883 hits)