JoGo: Joint Open Genome and Omics Platform

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
PKP3_chr11_389209_409908	398981	T T	TGTGCCCG others(17): Show TGTGCCCGCAGGCCCGCAGCCTTCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0137 a0001c0028t0001g0137	1	216	0.0046	24	c.106 others(35): Show c.1069-9_1083dupTGCCCGCAGGCCCGCAGCCTTCAG	p.Gln others(37): Show p.Gln361_Ala362insCysProGlnAlaArgSerLeuGln	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	5/13	1168/2817	1084/2394	362/797	INFO_REALIGN_3_PRIME	chr11	TogoVar
PLEKHG5_chr1_6462122_6496667	6469124	C C	CCTCTTCC others(29): Show CCTCTTCCTCCTCCTCCTCCTCCTCTTCCTCCTCCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02630.hp1 HG02630.hp1	a0014 a0014	a0014c0036 a0014c0036	a0014c0036t0001 a0014c0036t0001	a0014c0036t0001g0102 a0014c0036t0001g0102	1	288	0.0035	36	c.216 others(45): Show c.2166_2167insCAGGAGGAGGAAGAGGAGGAGGAGGAGGAGGAAGAG	p.Glu others(49): Show p.Glu722_Glu723insGlnGluGluGluGluGluGluGluGluGluGl uGlu	PLEKHG5	ENSG00000171680.23	transcript	ENST00000377728.8	protein_coding	19/21	2284/3580	2166/3021	722/1006		chr1	TogoVar
PLIN4_chr19_4497192_4523486	4511211	C C	CGCCGGTC others(389): Show CGCCGGTCTGGACAGTCCCTTTGGCCAAGTTCACAGCCCCTGTGAGCCCA GTGGATACGGTGTCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAG GCCCCCCTGGACGGCCCCCTTGGCCACATTCGCAGCACCGGTCACCCCAC TGCAGACGGTGTCCTTGGTACCAGTTAGGACAGTCTTGGTGGTGTCCACA CTGGTCTGGACGGTCCCTTTGGCGACATTCACTGCCCCCATAAGCCCAGT AGTGACTGTGTCCTTGGTGCCGGTCAGCACGGTCTTGGCCGTGTCTACAC CCGTCTGGACGGCCCCCTTGGCCACATTCGCAGCACCGGTCACCCCACTG CACACAGCATCCTTGGTACCAGTTAACACAGTCTTGGTGGTGTCCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02559.hp2 HG02559.hp2	a0103 a0103	a0103c0071 a0103c0071	a0103c0071t0004 a0103c0071t0004	a0103c0071t0004g0077 a0103c0071t0004g0077	1	412	0.0024	396	c.274 others(405): Show c.2748_2749insATGGACACCACCAAGACTGTGTTAACTGGTACCAAG GATGCTGTGTGCAGTGGGGTGACCGGTGCTGCGAATGTGGCCAAGGGGGC CGTCCAGACGGGTGTAGACACGGCCAAGACCGTGCTGACCGGCACCAAGG ACACAGTCACTACTGGGCTTATGGGGGCAGTGAATGTCGCCAAAGGGACC GTCCAGACCAGTGTGGACACCACCAAGACTGTCCTAACTGGTACCAAGGA CACCGTCTGCAGTGGGGTGACCGGTGCTGCGAATGTGGCCAAGGGGGCCG TCCAGGGGGGCCTGGACACTACAAAGTCTGTCCTGACTGGCACTAAAGAC ACCGTATCCACTGGGCTCACAGGGGCTGTGAACTTGGCCAAAGGGACTGT CCAGACCGGC	p.Gly others(409): Show p.Gly916_Val917insMetAspThrThrLysThrValLeuThrGlyTh rLysAspAlaValCysSerGlyValThrGlyAlaAlaAsnValAlaLysG lyAlaValGlnThrGlyValAspThrAlaLysThrValLeuThrGlyThr LysAspThrValThrThrGlyLeuMetGlyAlaValAsnValAlaLysGl yThrValGlnThrSerValAspThrThrLysThrValLeuThrGlyThrL ysAspThrValCysSerGlyValThrGlyAlaAlaAsnValAlaLysGly AlaValGlnGlyGlyLeuAspThrThrLysSerValLeuThrGlyThrLy sAspThrValSerThrGlyLeuThrGlyAlaValAsnLeuAlaLysGlyT hrValGlnThrGly	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	2867/6502	2748/4116	916/1371		chr19	TogoVar
PLIN4_chr19_4497192_4523486	4511211	C C	CGCCGGTC others(389): Show CGCCGGTCTGGACAGTCCCTTTGGCCAAGTTCACAGCCCCTGTGAGCCCA GTGGATACGGTGTCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAG GCCCCCCTGGACGGCCCCTTTGGCCACATTCGCAGCACCGGTCACCCCAC TGCAGACGGTGTCCTTGGTACCAGTTAGGACAGTCTTGGTGGTGTCCACA CTGGTCTGGACGGTCCCTTTGGCGACATTCACTGCCCCCATGAGCCCAGT AGTGACTGTGTCCTTGGTGCCAGTCAGCACGGTCTTGGCCGTGTCTACAC CCGTCTGGACGGCCCCCTTGGCCACATTCGCAGCACCGGTCACCCCACTG CACACAGCATCCTTGGTACCAGTTAACACAGTCTTGGTGGTGTCCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00735.hp1 HG01070.hp2 HG01071.hp2 others(6): Show HG00735.hp1 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01175.hp2 HG02055.hp2 HG03139.hp1 NA20752.hp2	a0010 a0054 a0106 others(1): Show a0010 a0054 a0106 a0107	a0010c0009 a0054c0145 a0106c0068 others(1): Show a0010c0009 a0054c0145 a0106c0068 a0107c0067	a0010c0009t0001 a0010c0009t0007 a0010c0009t0014 others(3): Show a0010c0009t0001 a0010c0009t0007 a0010c0009t0014 a0054c0145t0007 a0106c0068t0001 a0107c0067t0004	a0010c0009t0001g0085 a0010c0009t0007g0088 a0010c0009t0007g0089 others(6): Show a0010c0009t0001g0085 a0010c0009t0007g0088 a0010c0009t0007g0089 a0010c0009t0007g0090 a0010c0009t0014g0086 a0010c0009t0014g0087 a0054c0145t0007g0092 a0106c0068t0001g0084 a0107c0067t0004g0083	9	412	0.0218	396	c.274 others(405): Show c.2748_2749insATGGACACCACCAAGACTGTGTTAACTGGTACCAAG GATGCTGTGTGCAGTGGGGTGACCGGTGCTGCGAATGTGGCCAAGGGGGC CGTCCAGACGGGTGTAGACACGGCCAAGACCGTGCTGACTGGCACCAAGG ACACAGTCACTACTGGGCTCATGGGGGCAGTGAATGTCGCCAAAGGGACC GTCCAGACCAGTGTGGACACCACCAAGACTGTCCTAACTGGTACCAAGGA CACCGTCTGCAGTGGGGTGACCGGTGCTGCGAATGTGGCCAAAGGGGCCG TCCAGGGGGGCCTGGACACTACAAAGTCTGTCCTGACTGGCACTAAAGAC ACCGTATCCACTGGGCTCACAGGGGCTGTGAACTTGGCCAAAGGGACTGT CCAGACCGGC	p.Gly others(409): Show p.Gly916_Val917insMetAspThrThrLysThrValLeuThrGlyTh rLysAspAlaValCysSerGlyValThrGlyAlaAlaAsnValAlaLysG lyAlaValGlnThrGlyValAspThrAlaLysThrValLeuThrGlyThr LysAspThrValThrThrGlyLeuMetGlyAlaValAsnValAlaLysGl yThrValGlnThrSerValAspThrThrLysThrValLeuThrGlyThrL ysAspThrValCysSerGlyValThrGlyAlaAlaAsnValAlaLysGly AlaValGlnGlyGlyLeuAspThrThrLysSerValLeuThrGlyThrLy sAspThrValSerThrGlyLeuThrGlyAlaValAsnLeuAlaLysGlyT hrValGlnThrGly	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	2867/6502	2748/4116	916/1371		chr19	TogoVar
PLIN4_chr19_4497192_4523486	4511211	C C	CGCCGGTC others(389): Show CGCCGGTCTGGACAGTCCCTTTGGCCAAGTTCACAGCCCCTGTGAGCCCA GTGGATACGGTGTCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAG GCCCCCCTGGACGGCCCCTTTGGCCACATTCGCAGCACCGGTGACCCCAC TGCAGACGGTGTCCTTGGTACCAGTTAGGACAGTCTTGGTGGTGTCCACA CTGGTCTGGACGGTCCCTTTGGCGACATTCACTGCCCCCATGAGCCCAGT AGTGACTGTGTCCTTGGTGCCGGTCAGCACGGTCTTGGCCGTGTCTACAC CCGTCTGGACGGCCCCCTTGGCCACATTCGCAGCACCGGTCACCCCACTG CACACAGCATCCTTGGTACCAGTTAACACAGTCTTGGTGGTGTCCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03098.hp2 HG03209.hp1 HG03098.hp2 HG03209.hp1	a0038 a0038	a0038c0045 a0038c0045	a0038c0045t0013 a0038c0045t0013	a0038c0045t0013g0293 a0038c0045t0013g0294 a0038c0045t0013g0293 a0038c0045t0013g0294	2	412	0.0049	396	c.274 others(405): Show c.2748_2749insATGGACACCACCAAGACTGTGTTAACTGGTACCAAG GATGCTGTGTGCAGTGGGGTGACCGGTGCTGCGAATGTGGCCAAGGGGGC CGTCCAGACGGGTGTAGACACGGCCAAGACCGTGCTGACCGGCACCAAGG ACACAGTCACTACTGGGCTCATGGGGGCAGTGAATGTCGCCAAAGGGACC GTCCAGACCAGTGTGGACACCACCAAGACTGTCCTAACTGGTACCAAGGA CACCGTCTGCAGTGGGGTCACCGGTGCTGCGAATGTGGCCAAAGGGGCCG TCCAGGGGGGCCTGGACACTACAAAGTCTGTCCTGACTGGCACTAAAGAC ACCGTATCCACTGGGCTCACAGGGGCTGTGAACTTGGCCAAAGGGACTGT CCAGACCGGC	p.Gly others(409): Show p.Gly916_Val917insMetAspThrThrLysThrValLeuThrGlyTh rLysAspAlaValCysSerGlyValThrGlyAlaAlaAsnValAlaLysG lyAlaValGlnThrGlyValAspThrAlaLysThrValLeuThrGlyThr LysAspThrValThrThrGlyLeuMetGlyAlaValAsnValAlaLysGl yThrValGlnThrSerValAspThrThrLysThrValLeuThrGlyThrL ysAspThrValCysSerGlyValThrGlyAlaAlaAsnValAlaLysGly AlaValGlnGlyGlyLeuAspThrThrLysSerValLeuThrGlyThrLy sAspThrValSerThrGlyLeuThrGlyAlaValAsnLeuAlaLysGlyT hrValGlnThrGly	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	2867/6502	2748/4116	916/1371		chr19	TogoVar
PLIN4_chr19_4497192_4523486	4511211	C C	CGCCGGTC others(389): Show CGCCGGTCTGGACAGTCCCTTTGGCCAAGTTCACAGCCCCTGTGAGCCCA GTGGATACGGTGTCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAG GCCCCCCTGGACGGCCCCTTTGGCCACATTCGCAGCACTGGTCACCCCAC TGCAGACGGTGTCCTTGGTACCGGTCAGCACGGTCTTGGTGGTGTCCACA CTGGTCTGGACAGTCCCTTTGGCGACATTCACTGCCCCCATGAGCCCAGT AGTGACTGTGTCCTTGGTGCCGGTCAGCACGGTCTTGGCCGTGTCTACAC CCGTCTGGACGGCCCCCTTGGCCACATTCGCAGCACCGGTCACCCCACTG CACACAGCATCCTTGGTACCAGTTAACACAGTCTTGGTGGTGTCCAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG06807.hp2 HG06807.hp2	a0121 a0121	a0121c0166 a0121c0166	a0121c0166t0030 a0121c0166t0030	a0121c0166t0030g0295 a0121c0166t0030g0295	1	412	0.0024	396	c.274 others(405): Show c.2748_2749insATGGACACCACCAAGACTGTGTTAACTGGTACCAAG GATGCTGTGTGCAGTGGGGTGACCGGTGCTGCGAATGTGGCCAAGGGGGC CGTCCAGACGGGTGTAGACACGGCCAAGACCGTGCTGACCGGCACCAAGG ACACAGTCACTACTGGGCTCATGGGGGCAGTGAATGTCGCCAAAGGGACT GTCCAGACCAGTGTGGACACCACCAAGACCGTGCTGACCGGTACCAAGGA CACCGTCTGCAGTGGGGTGACCAGTGCTGCGAATGTGGCCAAAGGGGCCG TCCAGGGGGGCCTGGACACTACAAAGTCTGTCCTGACTGGCACTAAAGAC ACCGTATCCACTGGGCTCACAGGGGCTGTGAACTTGGCCAAAGGGACTGT CCAGACCGGC	p.Gly others(409): Show p.Gly916_Val917insMetAspThrThrLysThrValLeuThrGlyTh rLysAspAlaValCysSerGlyValThrGlyAlaAlaAsnValAlaLysG lyAlaValGlnThrGlyValAspThrAlaLysThrValLeuThrGlyThr LysAspThrValThrThrGlyLeuMetGlyAlaValAsnValAlaLysGl yThrValGlnThrSerValAspThrThrLysThrValLeuThrGlyThrL ysAspThrValCysSerGlyValThrSerAlaAlaAsnValAlaLysGly AlaValGlnGlyGlyLeuAspThrThrLysSerValLeuThrGlyThrLy sAspThrValSerThrGlyLeuThrGlyAlaValAsnLeuAlaLysGlyT hrValGlnThrGly	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	2867/6502	2748/4116	916/1371		chr19	TogoVar
PLIN4_chr19_4497192_4523486	4511910	T T	TCTGGACG others(191): Show TCTGGACGGCCCCCTTGGCCACATTCGCAGCACCGGTCACCCCACTGCAC ACAGCATCCTTGGTACCAGTTAACACAGTCTTGGTGGTGTCCATGCCGGT CTGGACAGTCCCTTTGGCCAAGTTCACAGCCCCTGTGAGCCCAGTGGACA CAGCATCTTTAGTGCCAGTCAGGACAGACTTTGTAGTGTCCAGGCCCCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02723.hp2 HG02723.hp2	a0105 a0105	a0105c0069 a0105c0069	a0105c0069t0001 a0105c0069t0001	a0105c0069t0001g0091 a0105c0069t0001g0091	1	412	0.0024	198	c.204 others(207): Show c.2049_2050insGGGGGCCTGGACACTACAAAGTCTGTCCTGACTGGC ACTAAAGATGCTGTGTCCACTGGGCTCACAGGGGCTGTGAACTTGGCCAA AGGGACTGTCCAGACCGGCATGGACACCACCAAGACTGTGTTAACTGGTA CCAAGGATGCTGTGTGCAGTGGGGTGACCGGTGCTGCGAATGTGGCCAAG GGGGCCGTCCAG	p.Gln others(211): Show p.Gln683_Thr684insGlyGlyLeuAspThrThrLysSerValLeuTh rGlyThrLysAspAlaValSerThrGlyLeuThrGlyAlaValAsnLeuA laLysGlyThrValGlnThrGlyMetAspThrThrLysThrValLeuThr GlyThrLysAspAlaValCysSerGlyValThrGlyAlaAlaAsnValAl aLysGlyAlaValGln	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	2168/6502	2049/4116	683/1371		chr19	TogoVar
PLIN4_chr19_4497192_4523486	4512537	C C	CGGTCACC others(92): Show CGGTCACCCCACTGCCAAAGGTGTTCTTTGTACCTGTCGCGATATTTTGG GTCGTTTTCAGCCCAGTTTGCACAGCCCCCTTGGCCACGTTCACGGCACT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02723.hp2 HG02723.hp2	a0105 a0105	a0105c0069 a0105c0069	a0105c0069t0001 a0105c0069t0001	a0105c0069t0001g0091 a0105c0069t0001g0091	1	412	0.0024	99	c.142 others(108): Show c.1422_1423insAGTGCCGTGAACGTGGCCAAGGGGGCTGTGCAAACT GGGCTGAAAACGACCCAAAATATCGCGACAGGTACAAAGAACACCTTTGG CAGTGGGGTGACC	p.Thr others(112): Show p.Thr474_Gly475insSerAlaValAsnValAlaLysGlyAlaValGl nThrGlyLeuLysThrThrGlnAsnIleAlaThrGlyThrLysAsnThrP heGlySerGlyValThr	PLIN4	ENSG00000167676.5	transcript	ENST00000301286.5	protein_coding	5/8	1541/6502	1422/4116	474/1371		chr19	TogoVar
PNMA6E_chrX_153390639_153406350	153398131	G G	GCTCCTGC others(11): Show GCTCCTGCCTCACCTGCGC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00408.hp1 HG02559.hp1 NA19002.hp1 others(2): Show HG00408.hp1 HG02559.hp1 NA19002.hp1 NA19074.hp1 NA19085.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0003 a0005c0005t0001 a0005c0005t0003	a0005c0005t0001g0070 a0005c0005t0003g0023 a0005c0005t0003g0073 a0005c0005t0001g0070 a0005c0005t0003g0023 a0005c0005t0003g0073	5	346	0.0145	18	c.701 others(25): Show c.701_718dupGCGCAGGTGAGGCAGGAG	p.Gly others(13): Show p.Gly234_Gly239dup	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	896/3389	718/1944	240/647		chrX	TogoVar
PNMA6E_chrX_153390639_153406350	153398281	C C	CCCTCACC others(29): Show CCCTCACCTGCTGCTCCTGCCTCACCTGCGCCTCCTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG01192.hp1 HG01261.hp1 others(10): Show HG00099.hp1 HG01192.hp1 HG01261.hp1 HG01943.hp1 HG01952.hp1 HG01975.hp2 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02148.hp1 HG02273.hp1 HG02683.hp1 HG04115.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0003 a0003c0003t0001 a0003c0003t0003	a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0048 others(2): Show a0003c0003t0001g0029 a0003c0003t0001g0031 a0003c0003t0001g0048 a0003c0003t0001g0052 a0003c0003t0003g0006	13	346	0.0376	36	c.533 others(43): Show c.533_568dupCAGGAGGCGCAGGTGAGGCAGGAGCAGCAGGTGAGG	p.Ala others(13): Show p.Ala178_Glu189dup	PNMA6E	ENSG00000214897.5	transcript	ENST00000445091.3	protein_coding	2/2	746/3389	568/1944	190/647		chrX	TogoVar
PNPLA6_chr19_7530717_7566764	7558907	A A	AGATACCA others(23): Show AGATACCAGACGAAGAAGGGAACAAAACGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA19010.hp2 NA19010.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0310 a0009c0018t0001g0310	1	416	0.0024	30	c.345 others(39): Show c.3456_3457insATACCAGACGAAGAAGGGAACAAAACGATG	p.Gln others(45): Show p.Gln1152_Asp1153insIleProAspGluGluGlyAsnLysThrMet	PNPLA6	ENSG00000032444.17	transcript	ENST00000600737.6	protein_coding	28/32	3529/4372	3457/4098	1153/1365	INFO_REALIGN_3_PRIME	chr19	TogoVar
POLL_chr10_101573882_101593257	101580412	T T	TACCTGGG others(11): Show TACCTGGGAAAGAGAGCGG	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	NA18968.hp1 NA18968.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0025 a0007c0007t0001g0025	1	394	0.0025	18	c.119 others(27): Show c.1198_1199insCCGCTCTCTTTCCCAGGT	p.Gln others(30): Show p.Gln400delinsProAlaLeuPheProArgTer	POLL	ENSG00000166169.17	transcript	ENST00000370162.8	protein_coding	8/9	1680/2781	1198/1728	400/575		chr10	TogoVar
POLRMT_chr19_612221_638537	621458	G G	GGCAGGT GGCAGGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02257.hp2 HG02572.hp1 HG02922.hp2 others(6): Show HG02257.hp2 HG02572.hp1 HG02922.hp2 HG03471.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp2 NA18522.hp1 NA21309.hp2	a0008 a0039 a0040 a0008 a0039 a0040	a0008c0011 a0008c0036 a0039c0034 others(1): Show a0008c0011 a0008c0036 a0039c0034 a0040c0033	a0008c0011t0002 a0008c0011t0003 a0008c0011t0006 others(3): Show a0008c0011t0002 a0008c0011t0003 a0008c0011t0006 a0008c0036t0002 a0039c0034t0006 a0040c0033t0002	a0008c0011t0002g0229 a0008c0011t0002g0231 a0008c0011t0002g0233 others(6): Show a0008c0011t0002g0229 a0008c0011t0002g0231 a0008c0011t0002g0233 a0008c0011t0002g0234 a0008c0011t0003g0279 a0008c0011t0006g0339 a0008c0036t0002g0175 a0039c0034t0006g0338 a0040c0033t0002g0174	9	422	0.0213	6	c.223 others(15): Show c.2234_2239dupACCTGC	p.His others(13): Show p.His745_Leu746dup	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	10/21	2264/3771	2239/3693	747/1230		chr19	TogoVar
POLRMT_chr19_612221_638537	622859	G G	GGCACAGG others(26): Show GGCACAGGAAGGGGTAAAGTGAGAACCGGCCCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03710.hp2 HG03710.hp2	a0024 a0024	a0024c0057 a0024c0057	a0024c0057t0002 a0024c0057t0002	a0024c0057t0002g0191 a0024c0057t0002g0191	1	422	0.0024	33	c.138 others(42): Show c.1384_1416dupGAGGGCCGGTTCTCACTTTACCCCTTCCTGTGC	p.Cys others(46): Show p.Cys472_Leu473insGluGlyArgPheSerLeuTyrProPheLeuCy s	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding	7/21	1441/3771	1416/3693	472/1230		chr19	TogoVar
POMC_chr2_25155860_25173580	25161587	C C	CGCCGCTG others(2): Show CGCCGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00733.hp1 HG00735.hp2 HG01070.hp2 others(35): Show HG00733.hp1 HG00735.hp2 HG01070.hp2 HG01071.hp2 HG01109.hp2 HG01167.hp1 HG01175.hp2 HG01255.hp1 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02109.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02647.hp2 HG02698.hp1 HG02723.hp1 HG02738.hp2 HG02886.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03209.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp2 HG03654.hp2 HG06807.hp1 NA18906.hp1 NA19030.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0015 a0002c0003t0001g0027 others(5): Show a0002c0003t0001g0005 a0002c0003t0001g0015 a0002c0003t0001g0027 a0002c0003t0001g0035 a0002c0003t0001g0042 a0002c0003t0001g0057 a0002c0003t0001g0058 a0002c0003t0001g0065	38	420	0.0905	9	c.289 others(16): Show c.289_297dupAGCAGCGGC	p.Gly others(21): Show p.Gly99_Ala100insSerSerGly	POMC	ENSG00000115138.11	transcript	ENST00000395826.7	protein_coding	3/3	400/1128	297/804	99/267		chr2	TogoVar
POMC_chr2_25155860_25173580	25161587	C C	CGCCGCTG others(92): Show CGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCG CTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCTGCCGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01167.hp2 HG01169.hp2 HG01167.hp2 HG01169.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0026 a0004c0004t0001g0026	2	420	0.0048	99	c.297 others(106): Show c.297_298insAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAG CAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCGGCAGCAGCG GCAGCAGCGGC	p.Gly others(111): Show p.Gly99_Ala100insSerSerGlySerSerGlySerSerGlySerSer GlySerSerGlySerSerGlySerSerGlySerSerGlySerSerGlySe rSerGlySerSerGly	POMC	ENSG00000115138.11	transcript	ENST00000395826.7	protein_coding	3/3	400/1128	297/804	99/267		chr2	TogoVar
POMC_chr2_25155860_25173580	25161599	C C	CGCTGCTG others(11): Show CGCTGCTGCCGCTGCTGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02257.hp1 HG02257.hp1	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0059 a0007c0007t0001g0059	1	420	0.0024	18	c.285 others(25): Show c.285_286insAGCAGCAGCGGCAGCAGC	p.Ser others(29): Show p.Ser95_Gly96insSerSerSerGlySerSer	POMC	ENSG00000115138.11	transcript	ENST00000395826.7	protein_coding	3/3	388/1128	285/804	95/267		chr2	TogoVar
POU4F1_chr13_78593362_78608552	78602188	G G	GGCC GGCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(425): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.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 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 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.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 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 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 HG02129.hp1 HG02129.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 HG02451.hp1 HG02451.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 HG02683.hp1 HG02683.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 HG02818.hp1 HG02818.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 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 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19006.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 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0011 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(42): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0002t0004 a0001c0002t0018 a0001c0003t0002 a0001c0003t0024 a0001c0003t0033 a0001c0004t0003 a0001c0004t0008 a0001c0008t0002 a0001c0011t0004 a0004c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0025 others(50): Show a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0002g0002 a0001c0001t0002g0018 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0003g0003 a0001c0001t0004g0007 a0001c0001t0005g0004 a0001c0001t0006g0005 a0001c0001t0007g0006 a0001c0001t0008g0008 a0001c0001t0009g0009 a0001c0001t0010g0010 a0001c0001t0011g0011 a0001c0001t0012g0013 a0001c0001t0013g0001 a0001c0001t0014g0002 a0001c0001t0015g0016 a0001c0001t0016g0019 a0001c0001t0017g0020 a0001c0001t0018g0042 a0001c0001t0019g0017 a0001c0001t0020g0023 a0001c0001t0021g0024 a0001c0001t0022g0030 a0001c0001t0023g0031 a0001c0001t0025g0032 a0001c0001t0026g0033 a0001c0001t0027g0034 a0001c0001t0028g0035 a0001c0001t0029g0036 a0001c0001t0030g0047 a0001c0001t0031g0048 a0001c0001t0032g0037 a0001c0001t0034g0038 a0001c0001t0035g0043 a0001c0001t0036g0054 a0001c0001t0037g0055 a0001c0002t0004g0015 a0001c0002t0004g0022 a0001c0002t0018g0041 a0001c0003t0002g0012 a0001c0003t0024g0044 a0001c0003t0033g0052 a0001c0004t0003g0021 a0001c0004t0008g0049 a0001c0008t0002g0045 a0001c0011t0004g0053 a0004c0009t0001g0039	428	432	0.9907	3	c.484 others(10): Show c.484_486dupGGC	p.Gly others(6): Show p.Gly162dup	POU4F1	ENSG00000152192.8	transcript	ENST00000377208.7	protein_coding	2/2	712/4539	486/1260	162/419		chr13	TogoVar
PPA2_chr4_105364077_105479062	105473914	T T	TTTAGTAA others(17): Show TTTAGTAAGTAGCTCCCGGAGGTTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18986.hp1 NA18986.hp1	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0011 a0006c0012t0011	a0006c0012t0011g0358 a0006c0012t0011g0358	1	366	0.0027	24	c.136 others(31): Show c.136_137insGAACCTCCGGGAGCTACTTACTAA	p.Gln others(35): Show p.Gln46delinsArgThrSerGlySerTyrLeuLeuLys	PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	1/12	148/1665	136/1005	46/334		chr4	TogoVar
PPL_chr16_4877507_4942148	4885975	T T	TCCA TCCA	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01891.hp1 HG03516.hp2 NA18522.hp1 HG01891.hp1 HG03516.hp2 NA18522.hp1	a0013 a0013	a0013c0019 a0013c0019	a0013c0019t0006 a0013c0019t0006	a0013c0019t0006g0343 a0013c0019t0006g0344 a0013c0019t0006g0347 a0013c0019t0006g0343 a0013c0019t0006g0344 a0013c0019t0006g0347	3	372	0.0081	3	c.267 others(12): Show c.2677_2679dupTGG	p.Trp others(6): Show p.Trp893dup	PPL	ENSG00000118898.16	transcript	ENST00000345988.7	protein_coding	22/22	2782/6251	2679/5271	893/1756		chr16	TogoVar
PPP1R3A_chr7_113871777_113924009	113878297	A A	AATACAAA others(17): Show AATACAAAAAATTAGCCGGGCGAGG	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	NA20752.hp1 NA20752.hp1	a0016 a0016	a0016c0013 a0016c0013	a0016c0013t0002 a0016c0013t0002	a0016c0013t0002g0129 a0016c0013t0002g0129	1	294	0.0034	24	c.279 others(33): Show c.2794_2795insCCTCGCCCGGCTAATTTTTTGTAT	p.Ile others(36): Show p.Ile932delinsThrSerProGlyTerPhePheValPhe	PPP1R3A	ENSG00000154415.8	transcript	ENST00000284601.4	protein_coding	4/4	2807/4328	2794/3369	932/1122		chr7	TogoVar
PRAM1_chr19_8485056_8507640	8499585	C C	CAGGCGGC others(101): Show CAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGC TTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTC AGTGAACTG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02717.hp2 HG02717.hp2	a0051 a0051	a0051c0038 a0051c0038	a0051c0038t0001 a0051c0038t0001	a0051c0038t0001g0176 a0051c0038t0001g0176	1	422	0.0024	108	c.222 others(115): Show c.222_223insCAGTTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGA GGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCC CCAAGAAGCCCCCGCCGCCT	p.Pro others(119): Show p.Pro74_Glu75insGlnPheThrAspLeuProLysLysProProProP roGluValThrAspLeuProLysLysProProProProGluValThrAsp LeuProLysLysProProProPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	271/2195	222/2013	74/670		chr19	TogoVar
PRAM1_chr19_8485056_8507640	8499590	G G	GGCGGGGG others(29): Show GGCGGGGGCTTCTTGGGGAGGTCAGTGAACTGAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01884.hp2 HG01891.hp1 HG01891.hp2 others(24): Show HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02015.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp2 HG02257.hp1 HG02451.hp1 HG02451.hp2 HG03453.hp2 HG03516.hp1 NA18612.hp1 NA18747.hp2 NA18941.hp1 NA18942.hp2 NA18943.hp2 NA18954.hp1 NA18955.hp2 NA18962.hp1 NA18966.hp1 NA18968.hp1 NA18981.hp1 NA18982.hp2 NA18993.hp1 NA19004.hp1 NA19054.hp2	a0003 a0008 a0032 others(1): Show a0003 a0008 a0032 a0052	a0003c0003 a0008c0016 a0008c0071 others(4): Show a0003c0003 a0008c0016 a0008c0071 a0008c0084 a0008c0085 a0032c0032 a0052c0063	a0003c0003t0002 a0008c0016t0002 a0008c0016t0004 others(5): Show a0003c0003t0002 a0008c0016t0002 a0008c0016t0004 a0008c0071t0002 a0008c0084t0002 a0008c0085t0002 a0032c0032t0002 a0052c0063t0001	a0003c0003t0002g0009 a0003c0003t0002g0219 a0003c0003t0002g0220 others(19): Show a0003c0003t0002g0009 a0003c0003t0002g0219 a0003c0003t0002g0220 a0003c0003t0002g0221 a0003c0003t0002g0222 a0003c0003t0002g0223 a0003c0003t0002g0224 a0003c0003t0002g0225 a0003c0003t0002g0226 a0003c0003t0002g0227 a0003c0003t0002g0238 a0003c0003t0002g0239 a0003c0003t0002g0241 a0008c0016t0002g0250 a0008c0016t0004g0199 a0008c0016t0004g0202 a0008c0071t0002g0188 a0008c0084t0002g0191 a0008c0085t0002g0194 a0032c0032t0002g0192 a0032c0032t0002g0193 a0052c0063t0001g0111	27	422	0.0640	36	c.217 others(43): Show c.217_218insAGCCTCAGTTCACTGACCTCCCCAAGAAGCCCCCGC	p.Pro others(47): Show p.Pro72_Pro73insGlnProGlnPheThrAspLeuProLysLysProP ro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	266/2195	217/2013	73/670		chr19	TogoVar
PRAM1_chr19_8485056_8507640	8499590	G G	GGCGGGGG others(65): Show GGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTT GGGGAGGTCAGTGAACTGAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00621.hp2 HG01884.hp1 HG01952.hp1 others(7): Show HG00621.hp2 HG01884.hp1 HG01952.hp1 HG02809.hp1 HG03098.hp1 HG03130.hp1 HG03139.hp2 NA18995.hp2 NA19009.hp1 NA19240.hp1	a0018 a0026 a0031 others(2): Show a0018 a0026 a0031 a0034 a0067	a0018c0031 a0018c0082 a0026c0023 others(3): Show a0018c0031 a0018c0082 a0026c0023 a0031c0030 a0034c0034 a0067c0083	a0018c0031t0002 a0018c0082t0002 a0026c0023t0001 others(3): Show a0018c0031t0002 a0018c0082t0002 a0026c0023t0001 a0031c0030t0002 a0034c0034t0002 a0067c0083t0002	a0018c0031t0002g0252 a0018c0031t0002g0253 a0018c0082t0002g0190 others(6): Show a0018c0031t0002g0252 a0018c0031t0002g0253 a0018c0082t0002g0190 a0026c0023t0001g0108 a0026c0023t0001g0175 a0031c0030t0002g0046 a0034c0034t0002g0217 a0034c0034t0002g0218 a0067c0083t0002g0249	10	422	0.0237	72	c.217 others(79): Show c.217_218insAGCCTCAGTTCACTGACCTCCCCAAGAAGCCCCCGCCG CCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGC	p.Pro others(83): Show p.Pro72_Pro73insGlnProGlnPheThrAspLeuProLysLysProP roProProGluValThrAspLeuProLysLysProPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	266/2195	217/2013	73/670		chr19	TogoVar
PRAM1_chr19_8485056_8507640	8499590	G G	GGCGGGGG others(101): Show GGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTT GGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGA ACTGAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp1 HG01255.hp1 HG01978.hp2 others(14): Show HG00099.hp1 HG01255.hp1 HG01978.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp1 HG02723.hp1 HG02818.hp1 HG02818.hp2 HG02976.hp1 HG03041.hp2 HG03471.hp1 HG03579.hp2 HG03669.hp1 NA18906.hp2 NA19043.hp2 NA20300.hp1	a0009 a0016 a0025 others(6): Show a0009 a0016 a0025 a0033 a0047 a0048 a0064 a0065 a0066	a0009c0009 a0016c0021 a0016c0045 others(7): Show a0009c0009 a0016c0021 a0016c0045 a0025c0019 a0033c0035 a0047c0043 a0048c0044 a0064c0068 a0065c0081 a0066c0080	a0009c0009t0001 a0016c0021t0003 a0016c0045t0001 others(7): Show a0009c0009t0001 a0016c0021t0003 a0016c0045t0001 a0025c0019t0001 a0033c0035t0002 a0047c0043t0001 a0048c0044t0001 a0064c0068t0002 a0065c0081t0002 a0066c0080t0002	a0009c0009t0001g0104 a0009c0009t0001g0105 a0009c0009t0001g0106 others(11): Show a0009c0009t0001g0104 a0009c0009t0001g0105 a0009c0009t0001g0106 a0009c0009t0001g0107 a0009c0009t0001g0115 a0016c0021t0003g0023 a0016c0045t0001g0120 a0025c0019t0001g0042 a0033c0035t0002g0053 a0047c0043t0001g0066 a0048c0044t0001g0067 a0064c0068t0002g0196 a0065c0081t0002g0248 a0066c0080t0002g0257	17	422	0.0403	108	c.217 others(115): Show c.217_218insAGCCTCAGTTCACTGACCTCCCCAAGAAGCCCCCGCCG CCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGA CCTCCCCAAGAAGCCCCCGC	p.Pro others(119): Show p.Pro72_Pro73insGlnProGlnPheThrAspLeuProLysLysProP roProProGluValThrAspLeuProLysLysProProProProGluVal ThrAspLeuProLysLysProPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	266/2195	217/2013	73/670		chr19	TogoVar
PRAM1_chr19_8485056_8507640	8499590	G G	GGCGGGGG others(137): Show GGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTT GGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGA CCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGAACTGAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00639.hp2 HG00733.hp1 others(51): Show HG00140.hp2 HG00639.hp2 HG00733.hp1 HG00741.hp2 HG01099.hp2 HG01109.hp2 HG01167.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp2 HG01934.hp2 HG01993.hp2 HG02055.hp1 HG02109.hp2 HG02258.hp2 HG02273.hp1 HG02300.hp1 HG02486.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02738.hp1 HG02809.hp2 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03017.hp1 HG03139.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03654.hp1 HG03704.hp2 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 NA18522.hp2 NA18957.hp2 NA18959.hp2 NA18975.hp1 NA18998.hp1 NA19001.hp2 NA19062.hp2 NA19081.hp2 NA19088.hp2 NA20129.hp1 NA20805.hp1	a0002 a0004 a0005 others(6): Show a0002 a0004 a0005 a0023 a0024 a0030 a0046 a0062 a0063	a0002c0002 a0004c0004 a0005c0005 others(8): Show a0002c0002 a0004c0004 a0005c0005 a0005c0067 a0023c0018 a0024c0020 a0030c0077 a0030c0078 a0046c0042 a0062c0076 a0063c0079	a0002c0002t0002 a0004c0004t0001 a0005c0005t0002 others(8): Show a0002c0002t0002 a0004c0004t0001 a0005c0005t0002 a0005c0067t0002 a0023c0018t0003 a0024c0020t0001 a0030c0077t0002 a0030c0078t0002 a0046c0042t0001 a0062c0076t0002 a0063c0079t0002	a0002c0002t0002g0008 a0002c0002t0002g0049 a0002c0002t0002g0050 others(31): Show a0002c0002t0002g0008 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0212 a0002c0002t0002g0213 a0002c0002t0002g0214 a0002c0002t0002g0215 a0002c0002t0002g0216 a0002c0002t0002g0231 a0002c0002t0002g0233 a0002c0002t0002g0235 a0002c0002t0002g0236 a0002c0002t0002g0237 a0002c0002t0002g0255 a0002c0002t0002g0262 a0004c0004t0001g0004 a0004c0004t0001g0033 a0004c0004t0001g0114 a0005c0005t0002g0045 a0005c0005t0002g0048 a0005c0005t0002g0181 a0005c0005t0002g0185 a0005c0005t0002g0186 a0005c0005t0002g0200 a0005c0005t0002g0251 a0005c0067t0002g0198 a0023c0018t0003g0034 a0024c0020t0001g0118 a0024c0020t0001g0119 a0030c0077t0002g0189 a0030c0078t0002g0187 a0046c0042t0001g0110 a0062c0076t0002g0182 a0063c0079t0002g0201	54	422	0.1280	144	c.217 others(151): Show c.217_218insAGCCTCAGTTCACTGACCTCCCCAAGAAGCCCCCGCCG CCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGA CCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGC CCCCGC	p.Pro others(155): Show p.Pro72_Pro73insGlnProGlnPheThrAspLeuProLysLysProP roProProGluValThrAspLeuProLysLysProProProProGluVal ThrAspLeuProLysLysProProProProGluValThrAspLeuProLy sLysProPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	266/2195	217/2013	73/670		chr19	TogoVar
PRAM1_chr19_8485056_8507640	8499590	G G	GGCGGGGG others(173): Show GGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTT GGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGA CCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGG GGCTTCTTGGGGAGGTCAGTGAACTGAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02145.hp2 HG02280.hp1 HG02280.hp2 others(8): Show HG02145.hp2 HG02280.hp1 HG02280.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02896.hp2 HG02897.hp2 HG02970.hp2 HG03098.hp2 HG03209.hp1	a0011 a0017 a0029 others(1): Show a0011 a0017 a0029 a0045	a0011c0015 a0011c0027 a0017c0028 others(3): Show a0011c0015 a0011c0027 a0017c0028 a0017c0075 a0029c0029 a0045c0037	a0011c0015t0002 a0011c0027t0002 a0017c0028t0002 others(3): Show a0011c0015t0002 a0011c0027t0002 a0017c0028t0002 a0017c0075t0002 a0029c0029t0002 a0045c0037t0001	a0011c0015t0002g0047 a0011c0015t0002g0258 a0011c0027t0002g0054 others(4): Show a0011c0015t0002g0047 a0011c0015t0002g0258 a0011c0027t0002g0054 a0017c0028t0002g0044 a0017c0075t0002g0184 a0029c0029t0002g0043 a0045c0037t0001g0058	11	422	0.0261	180	c.217 others(187): Show c.217_218insAGCCTCAGTTCACTGACCTCCCCAAGAAGCCCCCGCCG CCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGA CCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGC CCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGC	p.Pro others(191): Show p.Pro72_Pro73insGlnProGlnPheThrAspLeuProLysLysProP roProProGluValThrAspLeuProLysLysProProProProGluVal ThrAspLeuProLysLysProProProProGluValThrAspLeuProLy sLysProProProProGluValThrAspLeuProLysLysProPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	266/2195	217/2013	73/670		chr19	TogoVar
PRAM1_chr19_8485056_8507640	8499590	G G	GGCGGGGG others(209): Show GGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTT GGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGA CCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGG GGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAG GTCAGTGAACTGAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02145.hp1 HG02572.hp1 HG02572.hp2 others(5): Show HG02145.hp1 HG02572.hp1 HG02572.hp2 HG02886.hp1 HG02965.hp2 HG03041.hp1 HG03225.hp1 NA19030.hp1	a0010 a0022 a0061 a0010 a0022 a0061	a0010c0010 a0022c0040 a0022c0041 others(1): Show a0010c0010 a0022c0040 a0022c0041 a0061c0074	a0010c0010t0002 a0022c0040t0001 a0022c0041t0001 others(1): Show a0010c0010t0002 a0022c0040t0001 a0022c0041t0001 a0061c0074t0002	a0010c0010t0002g0243 a0010c0010t0002g0244 a0010c0010t0002g0245 others(5): Show a0010c0010t0002g0243 a0010c0010t0002g0244 a0010c0010t0002g0245 a0010c0010t0002g0246 a0010c0010t0002g0247 a0022c0040t0001g0167 a0022c0041t0001g0065 a0061c0074t0002g0183	8	422	0.0190	216	c.217 others(223): Show c.217_218insAGCCTCAGTTCACTGACCTCCCCAAGAAGCCCCCGCCG CCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGA CCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGC CCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAG GTCACTGACCTCCCCAAGAAGCCCCCGC	p.Pro others(227): Show p.Pro72_Pro73insGlnProGlnPheThrAspLeuProLysLysProP roProProGluValThrAspLeuProLysLysProProProProGluVal ThrAspLeuProLysLysProProProProGluValThrAspLeuProLy sLysProProProProGluValThrAspLeuProLysLysProProProP roGluValThrAspLeuProLysLysProPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	266/2195	217/2013	73/670		chr19	TogoVar
PRAM1_chr19_8485056_8507640	8499590	G G	GGCGGGGG others(245): Show GGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTT GGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGA CCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGG GGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAG GTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGAACTGAG GCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18906.hp1 NA18906.hp1	a0060 a0060	a0060c0073 a0060c0073	a0060c0073t0002 a0060c0073t0002	a0060c0073t0002g0242 a0060c0073t0002g0242	1	422	0.0024	252	c.217 others(259): Show c.217_218insAGCCTCAGTTCACTGACCTCCCCAAGAAGCCCCCGCCG CCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGA CCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGC CCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAG GTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCC CAAGAAGCCCCCGC	p.Pro others(263): Show p.Pro72_Pro73insGlnProGlnPheThrAspLeuProLysLysProP roProProGluValThrAspLeuProLysLysProProProProGluVal ThrAspLeuProLysLysProProProProGluValThrAspLeuProLy sLysProProProProGluValThrAspLeuProLysLysProProProP roGluValThrAspLeuProLysLysProProProProGluValThrAsp LeuProLysLysProPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	266/2195	217/2013	73/670		chr19	TogoVar
PRAM1_chr19_8485056_8507640	8499590	G G	GGCGGGGG others(281): Show GGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTT GGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGA CCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGG GGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAG GTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAG GCGGCGGGGGCTTCTTGGGGAGGTCAGTGAACTGAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp1 HG02895.hp2 HG02897.hp1 others(3): Show HG02109.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp2 HG03130.hp2 NA18522.hp1	a0013 a0028 a0013 a0028	a0013c0013 a0028c0026 a0013c0013 a0028c0026	a0013c0013t0002 a0028c0026t0002 a0013c0013t0002 a0028c0026t0002	a0013c0013t0002g0022 a0013c0013t0002g0195 a0028c0026t0002g0052 a0013c0013t0002g0022 a0013c0013t0002g0195 a0028c0026t0002g0052	6	422	0.0142	288	c.217 others(295): Show c.217_218insAGCCTCAGTTCACTGACCTCCCCAAGAAGCCCCCGCCG CCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGA CCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGC CCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAG GTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCC CAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGC	p.Pro others(299): Show p.Pro72_Pro73insGlnProGlnPheThrAspLeuProLysLysProP roProProGluValThrAspLeuProLysLysProProProProGluVal ThrAspLeuProLysLysProProProProGluValThrAspLeuProLy sLysProProProProGluValThrAspLeuProLysLysProProProP roGluValThrAspLeuProLysLysProProProProGluValThrAsp LeuProLysLysProProProProGluValThrAspLeuProLysLysPr oPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	266/2195	217/2013	73/670		chr19	TogoVar
PRAM1_chr19_8485056_8507640	8499590	G G	GGCGGGGG others(317): Show GGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTT GGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGA CCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGG GGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAG GTCAGTGACCTCAGGCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAG GCGGCGGGGGCTTCTTGGGGAGGTCAGTGACCTCAGGCGGCGGGGGCTTC TTGGGGAGGTCAGTGAACTGAGGCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03486.hp1 HG03486.hp1	a0059 a0059	a0059c0072 a0059c0072	a0059c0072t0002 a0059c0072t0002	a0059c0072t0002g0232 a0059c0072t0002g0232	1	422	0.0024	324	c.217 others(331): Show c.217_218insAGCCTCAGTTCACTGACCTCCCCAAGAAGCCCCCGCCG CCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGA CCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGC CCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAG GTCACTGACCTCCCCAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCC CAAGAAGCCCCCGCCGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGC CGCCTGAGGTCACTGACCTCCCCAAGAAGCCCCCGC	p.Pro others(335): Show p.Pro72_Pro73insGlnProGlnPheThrAspLeuProLysLysProP roProProGluValThrAspLeuProLysLysProProProProGluVal ThrAspLeuProLysLysProProProProGluValThrAspLeuProLy sLysProProProProGluValThrAspLeuProLysLysProProProP roGluValThrAspLeuProLysLysProProProProGluValThrAsp LeuProLysLysProProProProGluValThrAspLeuProLysLysPr oProProProGluValThrAspLeuProLysLysProPro	PRAM1	ENSG00000133246.12	transcript	ENST00000423345.5	protein_coding	2/10	266/2195	217/2013	73/670		chr19	TogoVar
PRAMEF33_chr1_13298539_13313907	13308800	G G	GAACAGGA others(272): Show GAACAGGAGGATCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTTGGC	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0067 a0001c0067	a0001c0067t0010 a0001c0067t0010	a0001c0067t0010g0007 a0001c0067t0010g0007	1	417	0.0024	279	c.133 others(288): Show c.1338_1339insAACAGGAGGATCTTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGC ACAATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCC TGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCC GGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCG GGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGC	p.Gln others(292): Show p.Gln446_Pro447insAsnArgArgIlePhePhePhePhePhePhePh ePhePhePheTerAspGlyValSerLeuCysArgProGlyTrpSerAlaV alAlaGlnSerArgLeuThrAlaSerSerAlaSerArgValHisAlaIle LeuLeuProGlnProProLysTerLeuGlyLeuGlnAlaProAlaThrTh rProGlyTerPhePheValPheLeuValGluThrGlyPheHisArgPheS erArgAspGlyLeuAspLeuLeuThrSerTerSerAlaArgLeuGly	PRAMEF33	ENSG00000237700.2	transcript	ENST00000437300.2	protein_coding	4/4	1412/1518	1339/1425	447/474		chr1	TogoVar
PRAMEF4_chr1_12874212_12891201	12881888	A A	AAACAGAG others(314): Show AAACAGAGTTCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCATGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAAGG	stop_gained others(1): Show stop_gained conservative_inframe_insertion	HIGH	NA18986.hp2 NA18986.hp2	a0024 a0024	a0024c0026 a0024c0026	a0024c0026t0004 a0024c0026t0004	a0024c0026t0004g0115 a0024c0026t0004g0115	1	324	0.0031	321	c.840 others(328): Show c.840_841insCCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTCTGTCGCCCATGCTGGAGTGCAGTGGCGGGATCTCGGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAA GTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTC CTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAG GCGTGAGCCACCGCGCCCGGCCTGAACTCTGTT	p.Val others(334): Show p.Val280_Ser281insProPhePhePhePhePhePhePhePheLeuAr gArgSerLeuAlaLeuSerProMetLeuGluCysSerGlyGlyIleSerA laHisCysLysLeuArgLeuProGlySerArgHisSerProAlaSerAla SerGlnValAlaGlyThrThrGlyAlaArgHisTyrAlaArgLeuIlePh eCysIlePheSerArgAspGlyValSerProPheTerProGlyTrpSerA rgSerProAspLeuValIleArgProProArgProProLysValLeuGly LeuGlnAlaTerAlaThrAlaProGlyLeuAsnSerVal	PRAMEF4	ENSG00000243073.4	transcript	ENST00000235349.6	protein_coding	3/4	911/1840	840/1437	280/478		chr1	TogoVar
PRB2_chr12_11386540_11400567	11393020	C C	CCTCCTTG others(548): Show CCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTG AGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAG GTGGGGGACCTTGGGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGC TTTCCTGGAGGAGATCGGGCACTTTGGGACTTGTTGTCTCCTTGTGGGGG TGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTC CTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGG GGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGA TCGAGAACTTCGGGACTTGTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCT TTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGT CCTTGTGGCTTTCCTGGAGGAGGTGGAGGACCTTGAGGCTGGTTGCCTCC TTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTTCGGG ACTTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01123.hp1 HG02738.hp2 HG01123.hp1 HG02738.hp2	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0030 a0010c0014t0001g0030	2	410	0.0049	555	c.105 others(564): Show c.1057_1058insACAAGTCCCGAAGTCCCCGATCTCCTCCAGGAAAGC CACAAGGACCACCCCCACAAGGAGGCAACCAGCCTCAAGGTCCTCCACCT CCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAACAAACCTCA AGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACA ACAAGTCCCGAAGTTCTCGATCTCCTCCAGGAAAGCCACAAGGACCACCC CCACAAGGAGGCAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCC ACAAGGACCACCCCCACAAGGAGGCAACAAACCTCAAGGTCCCCCACCTC CAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAACAAGTCCCAAAGT GCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAA CCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCC CACAAGGAGGCAACAAACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAA GGACCACCCCCACAAGGAG	p.Gly others(568): Show p.Gly352_Gly353insAspLysSerArgSerProArgSerProProGl yLysProGlnGlyProProProGlnGlyGlyAsnGlnProGlnGlyProP roProProProGlyLysProGlnGlyProProProGlnGlyGlyAsnLys ProGlnGlyProProProProGlyLysProGlnGlyProProProGlnGl yAspAsnLysSerArgSerSerArgSerProProGlyLysProGlnGlyP roProProGlnGlyGlyAsnGlnProGlnGlyProProProProProGly LysProGlnGlyProProProGlnGlyGlyAsnLysProGlnGlyProPr oProProGlyLysProGlnGlyProProProGlnGlyAspAsnLysSerG lnSerAlaArgSerProProGlyLysProGlnGlyProProProGlnGly GlyAsnGlnProGlnGlyProProProProProGlyLysProGlnGlyPr oProProGlnGlyGlyAsnLysProGlnGlyProProProProGlyLysP roGlnGlyProProProGlnGly	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding	3/4	1095/1431	1057/1251	353/416		chr12	TogoVar
PRB2_chr12_11386540_11400567	11393371	C C	CGGGCACT others(548): Show CGGGCACTTCGGGACTTGTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTT TCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTC CTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGGGGCTGGTTGCCTCCT TGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGAGAACTTCGGGA CTTGTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGG GACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCT GGAGGAGGTGGAGGACCTTGAGGCTGGTTGCCTCCTTGTGGGGGTGGTCC TTGTGGCTTTCCTGGAGGAGATCGGGGACTTCGGGACTTGTCTCCTTGTG GGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTG CCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACC TTGAGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAG GAGATT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG03225.hp1 HG03225.hp1	a0025 a0025	a0025c0017 a0025c0017	a0025c0017t0002 a0025c0017t0002	a0025c0017t0002g0036 a0025c0017t0002g0036	1	410	0.0024	555	c.706 others(562): Show c.706_707insAATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAA GGAGGCAACCAGCCTCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGG ACCACCCCCACAAGGAGGCAACAAACCTCAAGGTCCCCCACCTCCAGGAA AGCCACAAGGACCACCCCCACAAGGAGACAAGTCCCGAAGTCCCCGATCT CCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAACCAGCCTCA AGGTCCTCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAG GCAACAAACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCC CCACAAGGAGACAACAAGTCCCGAAGTTCTCGATCTCCTCCAGGAAAGCC ACAAGGACCACCCCCACAAGGAGGCAACCAGCCCCAAGGTCCCCCACCTC CTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAACAAACCTCAA GGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGACAA CAAGTCCCGAAGTGCCC	p.Ala others(568): Show p.Ala235_Arg236insGlnSerProProGlyLysProGlnGlyProPr oProGlnGlyGlyAsnGlnProGlnGlyProProProProProGlyLysP roGlnGlyProProProGlnGlyGlyAsnLysProGlnGlyProProPro ProGlyLysProGlnGlyProProProGlnGlyAspLysSerArgSerPr oArgSerProProGlyLysProGlnGlyProProProGlnGlyGlyAsnG lnProGlnGlyProProProProProGlyLysProGlnGlyProProPro GlnGlyGlyAsnLysProGlnGlyProProProProGlyLysProGlnGl yProProProGlnGlyAspAsnLysSerArgSerSerArgSerProProG lyLysProGlnGlyProProProGlnGlyGlyAsnGlnProGlnGlyPro ProProProProGlyLysProGlnGlyProProProGlnGlyGlyAsnLy sProGlnGlyProProProProGlyLysProGlnGlyProProProGlnG lyAspAsnLysSerArgSerAla	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding	3/4	744/1431	706/1251	236/416		chr12	TogoVar
PRB2_chr12_11386540_11400567	11393452	C C	CCTCCTTG others(857): Show CCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACC TTGGGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAG GAGATCGAGAACTTCGGGACTTGTTGTCTCCTTGTGGGGGTGGTCCTTGT GGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGG TGGTCCTTGTGGCTTTCCTGGAGGAGGTGGAGGACCTTGAGGCTGGTTGC CTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGGACTT CGGGACTTGTCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGG GGGACCTTGAGGTTTGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTC CTGGAGGAGGTGGGGGACCTTGGGGCTGGTTGCCTCCTTGTGGGGGTGGT CCTTGTGGCTTTCCTGGAGGAGATCGAGAACTTCGGGACTTGTTGTCTCC TTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTT TGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGA GGACCTTGAGGCTGGTTGCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCC TGGAGGAGATCGGGGACTTCGGGACTTGTCTCCTTGTGGGGGTGGTCCTT GTGGCTTTCCTGGAGGTGGGGGACCTTGAGGTTTGTTGCCTCCTTGTGGG GGTGGTCCTTGTGGCTTTCCTGGAGGAGGTGGGGGACCTTGAGGCTGGTT GCCTCCTTGTGGGGGTGGTCCTTGTGGCTTTCCTGGAGGAGATCGGGCAC TTCGGGACTTGTTGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02273.hp1 HG02273.hp1	a0017 a0017	a0017c0016 a0017c0016	a0017c0016t0001 a0017c0016t0001	a0017c0016t0001g0042 a0017c0016t0001g0042	1	410	0.0024	864	c.625 others(871): Show c.625_626insACAACAAGTCCCGAAGTGCCCGATCTCCTCCAGGAAAG CCACAAGGACCACCCCCACAAGGAGGCAACCAGCCTCAAGGTCCCCCACC TCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAACAAACCTC AAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGAC AAGTCCCGAAGTCCCCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCC ACAAGGAGGCAACCAGCCTCAAGGTCCTCCACCTCCTCCAGGAAAGCCAC AAGGACCACCCCCACAAGGAGGCAACAAACCTCAAGGTCCCCCACCTCCA GGAAAGCCACAAGGACCACCCCCACAAGGAGACAACAAGTCCCGAAGTTC TCGATCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAACC AGCCCCAAGGTCCCCCACCTCCTCCAGGAAAGCCACAAGGACCACCCCCA CAAGGAGGCAACAAACCTCAAGGTCCCCCACCTCCAGGAAAGCCACAAGG ACCACCCCCACAAGGAGACAAGTCCCGAAGTCCCCGATCTCCTCCAGGAA AGCCACAAGGACCACCCCCACAAGGAGGCAACCAGCCTCAAGGTCCTCCA CCTCCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAGGCAACAAACC TCAAGGTCCCCCACCTCCAGGAAAGCCACAAGGACCACCCCCACAAGGAG ACAACAAGTCCCGAAGTTCTCGATCTCCTCCAGGAAAGCCACAAGGACCA CCCCCACAAGGAGGCAACCAGCCCCAAGGTCCCCCACCTCCTCCAGGAAA GCCACAAGGACCACCCCCACAAGGAG	p.Gly others(877): Show p.Gly208_Gly209insAspAsnLysSerArgSerAlaArgSerProPr oGlyLysProGlnGlyProProProGlnGlyGlyAsnGlnProGlnGlyP roProProProProGlyLysProGlnGlyProProProGlnGlyGlyAsn LysProGlnGlyProProProProGlyLysProGlnGlyProProProGl nGlyAspLysSerArgSerProArgSerProProGlyLysProGlnGlyP roProProGlnGlyGlyAsnGlnProGlnGlyProProProProProGly LysProGlnGlyProProProGlnGlyGlyAsnLysProGlnGlyProPr oProProGlyLysProGlnGlyProProProGlnGlyAspAsnLysSerA rgSerSerArgSerProProGlyLysProGlnGlyProProProGlnGly GlyAsnGlnProGlnGlyProProProProProGlyLysProGlnGlyPr oProProGlnGlyGlyAsnLysProGlnGlyProProProProGlyLysP roGlnGlyProProProGlnGlyAspLysSerArgSerProArgSerPro ProGlyLysProGlnGlyProProProGlnGlyGlyAsnGlnProGlnGl yProProProProProGlyLysProGlnGlyProProProGlnGlyGlyA snLysProGlnGlyProProProProGlyLysProGlnGlyProProPro GlnGlyAspAsnLysSerArgSerSerArgSerProProGlyLysProGl nGlyProProProGlnGlyGlyAsnGlnProGlnGlyProProProProP roGlyLysProGlnGlyProProProGlnGly	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding	3/4	663/1431	625/1251	209/416		chr12	TogoVar
PRB2_chr12_11386540_11400567	11393924	A A	ACTGGAGA others(26): Show ACTGGAGAGGGTGGTCTTGGGGGTGGACGGGCTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18944.hp1 NA18944.hp1	a0013 a0013	a0013c0037 a0013c0037	a0013c0037t0002 a0013c0037t0002	a0013c0037t0002g0082 a0013c0037t0002g0082	1	410	0.0024	33	c.153 others(40): Show c.153_154insGAGCCCGTCCACCCCCAAGACCACCCTCTCCAG	p.Pro others(44): Show p.Pro51_Ser52insGluProValHisProGlnAspHisProLeuGln	PRB2	ENSG00000121335.12	transcript	ENST00000389362.6	protein_coding	3/4	191/1431	153/1251	51/416		chr12	TogoVar
PRB3_chr12_11260914_11274707	11267776	C C	CGAGGTGG others(119): Show CGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTC TGGCTTTCCCGGACGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTG GGGGTGGTCCTTCTGGCTTTCCCGGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18906.hp2 NA18906.hp2	a0028 a0028	a0028c0029 a0028c0029	a0028c0029t0001 a0028c0029t0001	a0028c0029t0001g0051 a0028c0029t0001g0051	1	443	0.0023	126	c.472 others(133): Show c.472_473insATCCGGGAAAGCCAGAAGGACCACCCCCACAAGGAGGA AACCAGTCCCAAGGTCCCCCACCTCGTCCGGGAAAGCCAGAAGGACCACC CCCACAAGGAGGAAACCAGTCCCAAGGTCCCCCACCTC	p.Pro others(139): Show p.Pro157_Arg158insHisProGlyLysProGluGlyProProProGl nGlyGlyAsnGlnSerGlnGlyProProProArgProGlyLysProGluG lyProProProGlnGlyGlyAsnGlnSerGlnGlyProProPro	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	510/1227	472/1056	158/351		chr12	TogoVar
PRB3_chr12_11260914_11274707	11267776	C C	CGAGGTGG others(56): Show CGAGGTGGGGGACCTTGGGACTGGTTTCCTCCTTGTGGGGGTGGTCCTTC TGGCTTTCCCGGAT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	NA18973.hp2 NA19087.hp1 NA18973.hp2 NA19087.hp1	a0019 a0019	a0019c0023 a0019c0023	a0019c0023t0001 a0019c0023t0001	a0019c0023t0001g0027 a0019c0023t0001g0027	2	443	0.0045	63	c.472 others(70): Show c.472_473insATCCGGGAAAGCCAGAAGGACCACCCCCACAAGGAGGA AACCAGTCCCAAGGTCCCCCACCTC	p.Pro others(76): Show p.Pro157_Arg158insHisProGlyLysProGluGlyProProProGl nGlyGlyAsnGlnSerGlnGlyProProPro	PRB3	ENSG00000197870.14	transcript	ENST00000538488.3	protein_coding	3/4	510/1227	472/1056	158/351		chr12	TogoVar
PRB4_chr12_11302077_11315436	11308619	T T	TTTCTGGC others(56): Show TTTCTGGCTTTCCTGGATGAGGTGGGGGACCTTGGGACTGGTTGCCTCCT TGTGGGGGTCGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(286): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01928.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03710.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18948.hp2 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18967.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18978.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA19001.hp2 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19070.hp2 NA19072.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp1 NA19089.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0005 a0006 others(4): Show a0001 a0005 a0006 a0007 a0009 a0011 a0013	a0001c0001 a0001c0014 a0001c0015 others(6): Show a0001c0001 a0001c0014 a0001c0015 a0005c0005 a0006c0006 a0007c0008 a0009c0009 a0011c0012 a0013c0013	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 others(8): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0014t0001 a0001c0015t0001 a0005c0005t0001 a0006c0006t0001 a0007c0008t0001 a0009c0009t0001 a0011c0012t0004 a0013c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(24): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0004g0024 a0001c0001t0008g0037 a0001c0014t0001g0032 a0001c0015t0001g0033 a0005c0005t0001g0007 a0005c0005t0001g0047 a0006c0006t0001g0010 a0007c0008t0001g0015 a0009c0009t0001g0019 a0011c0012t0004g0023 a0013c0013t0001g0031	289	451	0.6408	63	c.363 others(70): Show c.363_364insGGACGACCCCCACAAGGAGGCAACCAGTCCCAAGGTCC CCCACCTCATCCAGGAAAGCCAGAA	p.Glu others(76): Show p.Glu121_Arg122insGlyArgProProGlnGlyGlyAsnGlnSerGl nGlyProProProHisProGlyLysProGlu	PRB4	ENSG00000230657.8	transcript	ENST00000279575.7	protein_coding	3/4	401/923	363/744	121/247		chr12	TogoVar
PRB4_chr12_11302077_11315436	11308619	T T	TTTCTGGC others(182): Show TTTCTGGCTTTCCTGGATGAGGTGGGGGACCTTGGGACTGGTTGCCTCCT TGTGGGGGTCGTCCTTCTGGCTTTCCTGGAGGAGGTGGGGTACCTTGGGA CTGGTTTCCTCCTTGTGGGGGTGGTCTTTCTGGCTTTCCTGGATGAGGTG GGGGACCTTGGGACTGGTTGCCTCCTTGTGGGGGTCGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00621.hp1 HG01516.hp2 HG01934.hp1 others(43): Show HG00621.hp1 HG01516.hp2 HG01934.hp1 HG01993.hp1 HG02040.hp1 HG02056.hp2 HG02155.hp2 HG02486.hp1 HG02572.hp1 HG02602.hp1 HG02818.hp1 HG02976.hp1 HG03130.hp2 HG03209.hp1 HG03471.hp1 HG03486.hp2 HG03540.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp1 HG04115.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 NA18612.hp2 NA18940.hp2 NA18943.hp1 NA18946.hp2 NA18953.hp1 NA18954.hp1 NA18963.hp2 NA18964.hp1 NA18969.hp1 NA18970.hp1 NA18988.hp2 NA18990.hp2 NA18998.hp2 NA19004.hp1 NA19010.hp1 NA19010.hp2 NA19055.hp1 NA19068.hp1 NA19080.hp2 NA19083.hp2 NA19091.hp2 NA20805.hp2	a0003 a0012 a0003 a0012	a0003c0003 a0012c0016 a0003c0003 a0012c0016	a0003c0003t0001 a0012c0016t0001 a0003c0003t0001 a0012c0016t0001	a0003c0003t0001g0003 a0003c0003t0001g0011 a0003c0003t0001g0038 others(1): Show a0003c0003t0001g0003 a0003c0003t0001g0011 a0003c0003t0001g0038 a0012c0016t0001g0039	46	451	0.1020	189	c.363 others(196): Show c.363_364insGGACGACCCCCACAAGGAGGCAACCAGTCCCAAGGTCC CCCACCTCATCCAGGAAAGCCAGAAAGACCACCCCCACAAGGAGGAAACC AGTCCCAAGGTACCCCACCTCCTCCAGGAAAGCCAGAAGGACGACCCCCA CAAGGAGGCAACCAGTCCCAAGGTCCCCCACCTCATCCAGGAAAGCCAGA A	p.Glu others(202): Show p.Glu121_Arg122insGlyArgProProGlnGlyGlyAsnGlnSerGl nGlyProProProHisProGlyLysProGluArgProProProGlnGlyG lyAsnGlnSerGlnGlyThrProProProProGlyLysProGluGlyArg ProProGlnGlyGlyAsnGlnSerGlnGlyProProProHisProGlyLy sProGlu	PRB4	ENSG00000230657.8	transcript	ENST00000279575.7	protein_coding	3/4	401/923	363/744	121/247		chr12	TogoVar
PRB4_chr12_11302077_11315436	11308619	T T	TTTCTGGC others(119): Show TTTCTGGCTTTCCTGGATGAGGTGGGGGACCTTGGGACTGGTTTCCTCCT TGTGGGGGTGGTCTTTCTGGCTTTCCTGGATGAGGTGGGGGACCTTGGGA CTGGTTGCCTCCTTGTGGGGGTCGTCC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01167.hp2 HG01169.hp2 HG01261.hp2 others(19): Show HG01167.hp2 HG01169.hp2 HG01261.hp2 HG01891.hp1 HG02559.hp2 HG02622.hp1 HG02622.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp2 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03579.hp1 NA18906.hp1 NA20129.hp2 NA20300.hp1 NA21309.hp1	a0004 a0008 a0004 a0008	a0004c0004 a0008c0007 a0004c0004 a0008c0007	a0004c0004t0002 a0004c0004t0006 a0008c0007t0002 a0004c0004t0002 a0004c0004t0006 a0008c0007t0002	a0004c0004t0002g0006 a0004c0004t0002g0044 a0004c0004t0006g0022 others(1): Show a0004c0004t0002g0006 a0004c0004t0002g0044 a0004c0004t0006g0022 a0008c0007t0002g0012	22	451	0.0488	126	c.363 others(133): Show c.363_364insGGACGACCCCCACAAGGAGGCAACCAGTCCCAAGGTCC CCCACCTCATCCAGGAAAGCCAGAAAGACCACCCCCACAAGGAGGAAACC AGTCCCAAGGTCCCCCACCTCATCCAGGAAAGCCAGAA	p.Glu others(139): Show p.Glu121_Arg122insGlyArgProProGlnGlyGlyAsnGlnSerGl nGlyProProProHisProGlyLysProGluArgProProProGlnGlyG lyAsnGlnSerGlnGlyProProProHisProGlyLysProGlu	PRB4	ENSG00000230657.8	transcript	ENST00000279575.7	protein_coding	3/4	401/923	363/744	121/247		chr12	TogoVar
PRDM2_chr1_13695188_13830079	13779899	A A	ACTC ACTC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00140.hp2 HG00280.hp2 HG00323.hp1 others(187): Show HG00140.hp2 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp2 HG00597.hp1 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp2 HG01071.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG01243.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02145.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18966.hp2 NA18968.hp1 NA18969.hp1 NA18969.hp2 NA18973.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp1 NA19002.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19056.hp1 NA19057.hp1 NA19063.hp1 NA19063.hp2 NA19066.hp2 NA19070.hp1 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0002 a0003 a0004 others(8): Show a0002 a0003 a0004 a0005 a0006 a0008 a0009 a0011 a0015 a0016 a0017	a0002c0002 a0002c0005 a0002c0007 others(25): Show a0002c0002 a0002c0005 a0002c0007 a0002c0012 a0002c0018 a0002c0026 a0002c0038 a0002c0040 a0003c0003 a0003c0008 a0003c0032 a0003c0033 a0004c0009 a0004c0011 a0004c0023 a0004c0024 a0004c0025 a0005c0006 a0006c0010 a0006c0020 a0006c0021 a0006c0022 a0008c0016 a0009c0013 a0011c0031 a0015c0027 a0016c0028 a0017c0029	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 others(55): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0005 a0002c0002t0009 a0002c0002t0010 a0002c0002t0016 a0002c0002t0017 a0002c0002t0022 a0002c0002t0024 a0002c0002t0030 a0002c0005t0002 a0002c0005t0003 a0002c0005t0031 a0002c0007t0004 a0002c0007t0006 a0002c0007t0029 a0002c0012t0001 a0002c0018t0001 a0002c0026t0001 a0002c0038t0004 a0002c0040t0001 a0003c0003t0001 a0003c0003t0002 a0003c0003t0003 a0003c0003t0004 a0003c0003t0005 a0003c0003t0006 a0003c0003t0008 a0003c0003t0009 a0003c0003t0010 a0003c0008t0002 a0003c0008t0014 a0003c0008t0028 a0003c0032t0001 a0003c0033t0001 a0004c0009t0007 a0004c0009t0023 a0004c0011t0011 a0004c0011t0021 a0004c0023t0019 a0004c0024t0011 a0004c0025t0020 a0005c0006t0001 a0005c0006t0007 a0005c0006t0015 a0005c0006t0018 a0006c0010t0001 a0006c0020t0002 a0006c0021t0002 a0006c0022t0001 a0008c0016t0001 a0009c0013t0001 a0011c0031t0006 a0015c0027t0001 a0016c0028t0001 a0017c0029t0001	a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(184): Show a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 a0002c0002t0001g0012 a0002c0002t0001g0014 a0002c0002t0001g0015 a0002c0002t0001g0018 a0002c0002t0001g0020 a0002c0002t0001g0021 a0002c0002t0001g0028 a0002c0002t0001g0030 a0002c0002t0001g0031 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0034 a0002c0002t0001g0035 a0002c0002t0001g0036 a0002c0002t0001g0037 a0002c0002t0001g0041 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0045 a0002c0002t0001g0046 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0060 a0002c0002t0001g0061 a0002c0002t0001g0062 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0090 a0002c0002t0001g0091 a0002c0002t0001g0092 a0002c0002t0001g0096 a0002c0002t0001g0098 a0002c0002t0001g0099 a0002c0002t0001g0100 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0104 a0002c0002t0001g0105 a0002c0002t0001g0106 a0002c0002t0001g0107 a0002c0002t0001g0111 a0002c0002t0001g0113 a0002c0002t0001g0114 a0002c0002t0001g0115 a0002c0002t0001g0117 a0002c0002t0001g0176 a0002c0002t0001g0178 a0002c0002t0001g0316 a0002c0002t0001g0318 a0002c0002t0001g0319 a0002c0002t0002g0121 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0003g0022 a0002c0002t0003g0079 a0002c0002t0003g0089 a0002c0002t0003g0095 a0002c0002t0003g0134 a0002c0002t0003g0136 a0002c0002t0003g0292 a0002c0002t0004g0023 a0002c0002t0005g0011 a0002c0002t0005g0013 a0002c0002t0005g0110 a0002c0002t0009g0093 a0002c0002t0010g0053 a0002c0002t0016g0047 a0002c0002t0017g0024 a0002c0002t0022g0163 a0002c0002t0024g0019 a0002c0002t0030g0025 a0002c0005t0002g0010 a0002c0005t0002g0029 a0002c0005t0002g0038 a0002c0005t0002g0049 a0002c0005t0002g0055 a0002c0005t0002g0056 a0002c0005t0002g0063 a0002c0005t0002g0080 a0002c0005t0002g0084 a0002c0005t0002g0086 a0002c0005t0002g0087 a0002c0005t0002g0088 a0002c0005t0002g0094 a0002c0005t0003g0016 a0002c0005t0003g0027 a0002c0005t0003g0040 a0002c0005t0003g0042 a0002c0005t0003g0052 a0002c0005t0003g0076 a0002c0005t0031g0074 a0002c0007t0004g0131 a0002c0007t0006g0125 a0002c0007t0006g0126 a0002c0007t0006g0127 a0002c0007t0029g0132 a0002c0012t0001g0130 a0002c0012t0001g0143 a0002c0018t0001g0135 a0002c0026t0001g0017 a0002c0038t0004g0317 a0002c0040t0001g0141 a0003c0003t0001g0054 a0003c0003t0001g0171 a0003c0003t0001g0181 a0003c0003t0001g0182 a0003c0003t0001g0183 a0003c0003t0001g0211 a0003c0003t0001g0213 a0003c0003t0001g0216 a0003c0003t0001g0220 a0003c0003t0001g0229 a0003c0003t0001g0231 a0003c0003t0001g0245 a0003c0003t0001g0263 a0003c0003t0001g0264 a0003c0003t0001g0284 a0003c0003t0001g0306 a0003c0003t0002g0180 a0003c0003t0002g0186 a0003c0003t0002g0257 a0003c0003t0003g0184 a0003c0003t0003g0224 a0003c0003t0003g0227 a0003c0003t0003g0230 a0003c0003t0003g0234 a0003c0003t0003g0243 a0003c0003t0003g0256 a0003c0003t0004g0225 a0003c0003t0005g0261 a0003c0003t0006g0223 a0003c0003t0006g0255 a0003c0003t0008g0262 a0003c0003t0009g0179 a0003c0003t0010g0241 a0003c0008t0002g0212 a0003c0008t0002g0226 a0003c0008t0002g0233 a0003c0008t0014g0185 a0003c0008t0028g0151 a0003c0032t0001g0133 a0003c0033t0001g0218 a0004c0009t0007g0118 a0004c0009t0007g0120 a0004c0009t0023g0119 a0004c0011t0011g0310 a0004c0011t0021g0311 a0004c0023t0019g0313 a0004c0024t0011g0312 a0004c0025t0020g0309 a0005c0006t0001g0008 a0005c0006t0001g0058 a0005c0006t0001g0059 a0005c0006t0001g0112 a0005c0006t0007g0097 a0005c0006t0015g0009 a0005c0006t0018g0057 a0006c0010t0001g0138 a0006c0010t0001g0142 a0006c0020t0002g0137 a0006c0021t0002g0139 a0006c0022t0001g0140 a0008c0016t0001g0221 a0008c0016t0001g0246 a0009c0013t0001g0064 a0009c0013t0001g0065 a0011c0031t0006g0122 a0015c0027t0001g0109 a0016c0028t0001g0116 a0017c0029t0001g0039	190	324	0.5864	3	c.210 others(12): Show c.2107_2109dupCCT	p.Pro others(6): Show p.Pro703dup	PRDM2	ENSG00000116731.23	transcript	ENST00000311066.10	protein_coding	8/10	2288/7279	2110/5157	704/1718	INFO_REALIGN_3_PRIME	chr1	TogoVar
PRDM6_chr5_123084241_123199266	123090276	A A	ACCTCCGC others(2): Show ACCTCCGCCT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG00639.hp1 HG00639.hp2 HG00642.hp1 others(71): Show HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp2 HG01069.hp1 HG01074.hp2 HG01106.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01361.hp2 HG01978.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp2 HG02109.hp1 HG02257.hp1 HG02258.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02602.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG04199.hp2 NA18968.hp2 NA19030.hp2 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0004 a0005 others(1): Show a0002 a0004 a0005 a0006	a0002c0002 a0002c0006 a0002c0020 others(4): Show a0002c0002 a0002c0006 a0002c0020 a0002c0022 a0004c0004 a0005c0007 a0006c0010	a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 others(29): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0009 a0002c0002t0010 a0002c0002t0015 a0002c0002t0016 a0002c0002t0017 a0002c0002t0018 a0002c0002t0021 a0002c0002t0025 a0002c0002t0037 a0002c0002t0061 a0002c0002t0065 a0002c0002t0067 a0002c0002t0071 a0002c0002t0077 a0002c0002t0083 a0002c0002t0084 a0002c0006t0002 a0002c0006t0066 a0002c0006t0070 a0002c0020t0047 a0002c0022t0001 a0004c0004t0005 a0004c0004t0009 a0004c0004t0029 a0004c0004t0072 a0004c0004t0082 a0005c0007t0026 a0005c0007t0064 a0006c0010t0006	a0002c0002t0001g0220 a0002c0002t0001g0232 a0002c0002t0001g0252 others(68): Show a0002c0002t0001g0220 a0002c0002t0001g0232 a0002c0002t0001g0252 a0002c0002t0001g0253 a0002c0002t0001g0254 a0002c0002t0001g0256 a0002c0002t0001g0260 a0002c0002t0001g0263 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0267 a0002c0002t0001g0268 a0002c0002t0001g0269 a0002c0002t0001g0272 a0002c0002t0001g0293 a0002c0002t0002g0011 a0002c0002t0002g0231 a0002c0002t0002g0236 a0002c0002t0002g0257 a0002c0002t0002g0270 a0002c0002t0002g0271 a0002c0002t0002g0274 a0002c0002t0002g0275 a0002c0002t0002g0276 a0002c0002t0002g0277 a0002c0002t0006g0285 a0002c0002t0006g0286 a0002c0002t0006g0287 a0002c0002t0006g0288 a0002c0002t0009g0242 a0002c0002t0009g0243 a0002c0002t0009g0262 a0002c0002t0009g0264 a0002c0002t0010g0289 a0002c0002t0010g0290 a0002c0002t0010g0291 a0002c0002t0010g0294 a0002c0002t0010g0296 a0002c0002t0015g0259 a0002c0002t0016g0261 a0002c0002t0017g0273 a0002c0002t0017g0281 a0002c0002t0018g0235 a0002c0002t0018g0240 a0002c0002t0018g0241 a0002c0002t0021g0010 a0002c0002t0025g0012 a0002c0002t0037g0219 a0002c0002t0061g0278 a0002c0002t0065g0292 a0002c0002t0067g0249 a0002c0002t0071g0284 a0002c0002t0077g0258 a0002c0002t0083g0246 a0002c0002t0084g0247 a0002c0006t0002g0026 a0002c0006t0066g0024 a0002c0006t0070g0025 a0002c0020t0047g0251 a0002c0022t0001g0250 a0004c0004t0005g0229 a0004c0004t0009g0245 a0004c0004t0029g0238 a0004c0004t0029g0239 a0004c0004t0072g0230 a0004c0004t0082g0237 a0005c0007t0026g0233 a0005c0007t0026g0234 a0005c0007t0064g0244 a0006c0010t0006g0282 a0006c0010t0006g0283	74	312	0.2372	9	c.277 others(16): Show c.277_285dupGCCTCCTCC	p.Ala others(11): Show p.Ala93_Ser95dup	PRDM6	ENSG00000061455.11	transcript	ENST00000407847.5	protein_coding	2/8	580/9147	286/1788	96/595	INFO_REALIGN_3_PRIME	chr5	TogoVar
PRDM9_chr5_23502609_23533093	23526806	T T	TACACACA others(245): Show TACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTT AGCTGGCAGTCAGTCCTCCTCACTCACCAGAGGACACACACAGGGGAGAA GCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCCGGCAGTCAGTCC TCCTCACTCACCAGAGGAGACACACAGGGGAGAAGCCCTATGTCTGCAGG GAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGTCCTCCTCAGTCACCAGAG GAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02572.hp1 HG02572.hp1	a0045 a0045	a0045c0049 a0045c0049	a0045c0049t0001 a0045c0049t0001	a0045c0049t0001g0085 a0045c0049t0001g0085	1	424	0.0024	252	c.193 others(261): Show c.1938_1939insTGGCAGTCAGTCCTCCTCAGTCACCAGAGGACACAC ACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTG GCAGTCAGTCCTCCTCACTCACCAGAGGACACACACAGGGGAGAAGCCCT ATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCCGGCAGTCAGTCCTCCTC ACTCACCAGAGGAGACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTG TGGGCGGGGCTTTAGC	p.Ser others(265): Show p.Ser646_Arg647insTrpGlnSerValLeuLeuSerHisGlnArgTh rHisThrGlyGluLysProTyrValCysArgGluCysGlyArgGlyPheS erTrpGlnSerValLeuLeuThrHisGlnArgThrHisThrGlyGluLys ProTyrValCysArgGluCysGlyArgGlyPheSerArgGlnSerValLe uLeuThrHisGlnArgArgHisThrGlyGluLysProTyrValCysArgG luCysGlyArgGlyPheSer	PRDM9	ENSG00000164256.11	transcript	ENST00000296682.4	protein_coding	11/11	2127/3193	1939/2685	647/894	INFO_REALIGN_3_PRIME	chr5	TogoVar
PRDM9_chr5_23502609_23533093	23526890	C C	CACACACA others(77): Show CACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTT AGCCGGCAGTCAGTCCTCCTCACTCACCAGAGGAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01928.hp1 HG01943.hp1 HG01975.hp1 others(1): Show HG01928.hp1 HG01943.hp1 HG01975.hp1 HG02602.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0002 a0004c0004t0001g0004 a0004c0004t0001g0179 a0004c0004t0001g0002 a0004c0004t0001g0004 a0004c0004t0001g0179	4	424	0.0094	84	c.193 others(93): Show c.1939_2022dupCGGCAGTCAGTCCTCCTCACTCACCAGAGGAGACAC ACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGC	p.Arg others(13): Show p.Arg647_Ser674dup	PRDM9	ENSG00000164256.11	transcript	ENST00000296682.4	protein_coding	11/11	2211/3193	2023/2685	675/894	INFO_REALIGN_3_PRIME	chr5	TogoVar
PRDM9_chr5_23502609_23533093	23527058	G G	GACACACA others(77): Show GACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTT AGCCGGCAGTCAGTCCTCCTCACTCACCAGAGGAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01175.hp1 HG02922.hp2 HG01175.hp1 HG02922.hp2	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0001 a0013c0022t0001	a0013c0022t0001g0033 a0013c0022t0001g0188 a0013c0022t0001g0033 a0013c0022t0001g0188	2	424	0.0047	84	c.202 others(93): Show c.2022_2023insCGGCAGTCAGTCCTCCTCACTCACCAGAGGACACAC ACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGC	p.Ser others(97): Show p.Ser674_Trp675insArgGlnSerValLeuLeuThrHisGlnArgTh rHisThrGlyGluLysProTyrValCysArgGluCysGlyArgGlyPheS er	PRDM9	ENSG00000164256.11	transcript	ENST00000296682.4	protein_coding	11/11	2211/3193	2023/2685	675/894	INFO_REALIGN_3_PRIME	chr5	TogoVar
PRDM9_chr5_23502609_23533093	23527058	G G	GACACACA others(77): Show GACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTT AGCTGGCAGTCAGTCCTCCTCACTCACCAGAGGAC	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02257.hp1 HG02486.hp2 HG03579.hp1 others(2): Show HG02257.hp1 HG02486.hp2 HG03579.hp1 NA19030.hp2 NA19043.hp2	a0018 a0027 a0041 others(1): Show a0018 a0027 a0041 a0042	a0018c0023 a0027c0059 a0041c0057 others(1): Show a0018c0023 a0027c0059 a0041c0057 a0042c0058	a0018c0023t0001 a0027c0059t0007 a0041c0057t0001 others(1): Show a0018c0023t0001 a0027c0059t0007 a0041c0057t0001 a0042c0058t0001	a0018c0023t0001g0049 a0018c0023t0001g0088 a0027c0059t0007g0069 others(2): Show a0018c0023t0001g0049 a0018c0023t0001g0088 a0027c0059t0007g0069 a0041c0057t0001g0091 a0042c0058t0001g0033	5	424	0.0118	84	c.210 others(93): Show c.2107_2190dupTGGCAGTCAGTCCTCCTCACTCACCAGAGGACACAC ACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGC	p.Trp others(13): Show p.Trp703_Ser730dup	PRDM9	ENSG00000164256.11	transcript	ENST00000296682.4	protein_coding	11/11	2379/3193	2191/2685	731/894	INFO_REALIGN_3_PRIME	chr5	TogoVar
PRDM9_chr5_23502609_23533093	23527142	C C	CACACACA others(329): Show CACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTT AGCTGGCAGTCAGTCCTCCTCACTCACCAGAGGACACACACAGGGGAGAA GCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCTGGCAGTCAGTCC TCCTCACTCACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGG GAGTGTGGGCGGGGCTTTAGCCGGCAGTCAGTCCTCCTCACTCACCAGAG GAGACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCT TTAGCCGGCAGTCAGTCCTCCTCACTCACCAGAGGAG	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG02109.hp2 HG02965.hp2 HG02976.hp2 HG02109.hp2 HG02965.hp2 HG02976.hp2	a0012 a0012	a0012c0011 a0012c0011	a0012c0011t0001 a0012c0011t0001	a0012c0011t0001g0076 a0012c0011t0001g0171 a0012c0011t0001g0172 a0012c0011t0001g0076 a0012c0011t0001g0171 a0012c0011t0001g0172	3	424	0.0071	336	c.219 others(345): Show c.2190_2191insTGGCAGTCAGTCCTCCTCACTCACCAGAGGACACAC ACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCCG GCAGTCAGTCCTCCTCACTCACCAGAGGAGACACACAGGGGAGAAGCCCT ATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGCCGGCAGTCAGTCCTCCTC ACTCACCAGAGGAGACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTG TGGGCGGGGCTTTAGCTGGCAGTCAGTCCTCCTCACTCACCAGAGGACAC ACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTTAGC	p.Ser others(349): Show p.Ser730_Asn731insTrpGlnSerValLeuLeuThrHisGlnArgTh rHisThrGlyGluLysProTyrValCysArgGluCysGlyArgGlyPheS erArgGlnSerValLeuLeuThrHisGlnArgArgHisThrGlyGluLys ProTyrValCysArgGluCysGlyArgGlyPheSerArgGlnSerValLe uLeuThrHisGlnArgArgHisThrGlyGluLysProTyrValCysArgG luCysGlyArgGlyPheSerTrpGlnSerValLeuLeuThrHisGlnArg ThrHisThrGlyGluLysProTyrValCysArgGluCysGlyArgGlyPh eSer	PRDM9	ENSG00000164256.11	transcript	ENST00000296682.4	protein_coding	11/11	2379/3193	2191/2685	731/894	INFO_REALIGN_3_PRIME	chr5	TogoVar
PRDM9_chr5_23502609_23533093	23527299	A A	ACACCAGA others(77): Show ACACCAGAGGACACACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTG GGCGGGGCTTTAGAGATAAGTCACACCTCCTCAGT	conservative_inframe_insertion conservative_inframe_insertion	MODERATE	HG01081.hp2 HG01256.hp1 HG01081.hp2 HG01256.hp1	a0016 a0016	a0016c0016 a0016c0016	a0016c0016t0002 a0016c0016t0002	a0016c0016t0002g0023 a0016c0016t0002g0124 a0016c0016t0002g0023 a0016c0016t0002g0124	2	424	0.0047	84	c.227 others(93): Show c.2271_2272insAGAGATAAGTCACACCTCCTCAGTCACCAGAGGACA CACACAGGGGAGAAGCCCTATGTCTGCAGGGAGTGTGGGCGGGGCTTT	p.Arg others(97): Show p.Arg758_Asp759insAspLysSerHisLeuLeuSerHisGlnArgTh rHisThrGlyGluLysProTyrValCysArgGluCysGlyArgGlyPheA rg	PRDM9	ENSG00000164256.11	transcript	ENST00000296682.4	protein_coding	11/11	2460/3193	2272/2685	758/894	INFO_REALIGN_3_PRIME	chr5	TogoVar

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