Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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Results per page.

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
FOXD4L4_chr9_65732146_65743396	65738315	C C	CAGG CAGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02647.hp1 HG02698.hp2 HG02970.hp2 others(1): Show HG02647.hp1 HG02698.hp2 HG02970.hp2 HG02976.hp1	a0008 a0009 a0013 a0008 a0009 a0013	a0008c0010 a0009c0020 a0013c0018 a0008c0010 a0009c0020 a0013c0018	a0008c0010t0000 a0009c0020t0000 a0013c0018t0000 a0008c0010t0000 a0009c0020t0000 a0013c0018t0000	a0008c0010t0000g0000 a0009c0020t0000g0000 a0013c0018t0000g0000 a0008c0010t0000g0000 a0009c0020t0000g0000 a0013c0018t0000g0000	4	207	0.0193	3	c.117 others(12): Show c.1175_1177dupGGA	p.Arg others(6): Show p.Arg392dup	FOXD4L4	ENSG00000184659.6	transcript	ENST00000377413.3	protein_coding	1/1	1178/1251	1178/1251	393/416	INFO_REALIGN_3_PRIME	chr9	TogoVar
FOXE1_chr9_97848226_97861717	97854424	C C	CGCTGCCG others(2): Show CGCTGCCGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01361.hp1 HG03704.hp1 HG03704.hp2 HG01361.hp1 HG03704.hp1 HG03704.hp2	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0001 a0005c0010t0001	a0005c0010t0001g0000 a0005c0010t0001g0000	3	328	0.0092	9	c.512 others(16): Show c.512_513insTGCCGCAGC	p.Ala others(13): Show p.Ala169_Ala171dup	FOXE1	ENSG00000178919.9	transcript	ENST00000375123.5	protein_coding	1/1	1202/3492	513/1122	171/373	INFO_REALIGN_3_PRIME	chr9	TogoVar
FOXF2_chr6_1384576_1400603	1390850	G G	GGGC GGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00323.hp1 HG00323.hp2 others(356): Show HG00099.hp1 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp2 HG00673.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 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 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18986.hp1 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.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 NA19005.hp1 NA19005.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 NA19054.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.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 NA19240.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(6): Show a0001 a0003 a0004 a0006 a0007 a0008 a0009 a0010 a0012	a0001c0001 a0001c0002 a0001c0014 others(10): Show a0001c0001 a0001c0002 a0001c0014 a0003c0004 a0003c0017 a0004c0005 a0006c0010 a0006c0011 a0007c0018 a0008c0013 a0009c0015 a0010c0016 a0012c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(22): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0011 a0001c0002t0001 a0001c0002t0007 a0001c0002t0010 a0001c0002t0013 a0001c0014t0001 a0003c0004t0001 a0003c0017t0007 a0004c0005t0001 a0006c0010t0001 a0006c0011t0001 a0007c0018t0001 a0008c0013t0001 a0009c0015t0001 a0010c0016t0001 a0012c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(101): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0083 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0105 a0001c0001t0002g0002 a0001c0001t0002g0010 a0001c0001t0002g0040 a0001c0001t0002g0045 a0001c0001t0002g0067 a0001c0001t0002g0086 a0001c0001t0002g0102 a0001c0001t0003g0099 a0001c0001t0004g0001 a0001c0001t0005g0002 a0001c0001t0005g0004 a0001c0001t0005g0034 a0001c0001t0005g0039 a0001c0001t0006g0009 a0001c0001t0006g0011 a0001c0001t0007g0001 a0001c0001t0008g0024 a0001c0001t0009g0034 a0001c0001t0011g0001 a0001c0002t0001g0003 a0001c0002t0001g0008 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0023 a0001c0002t0001g0027 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0038 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0068 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0078 a0001c0002t0001g0082 a0001c0002t0001g0085 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0007g0008 a0001c0002t0010g0008 a0001c0002t0013g0077 a0001c0014t0001g0039 a0003c0004t0001g0001 a0003c0004t0001g0006 a0003c0004t0001g0007 a0003c0004t0001g0009 a0003c0004t0001g0012 a0003c0004t0001g0016 a0003c0004t0001g0021 a0003c0004t0001g0097 a0003c0004t0001g0098 a0003c0004t0001g0104 a0003c0017t0007g0002 a0004c0005t0001g0001 a0004c0005t0001g0002 a0004c0005t0001g0007 a0004c0005t0001g0011 a0004c0005t0001g0061 a0006c0010t0001g0038 a0006c0011t0001g0030 a0007c0018t0001g0001 a0008c0013t0001g0084 a0009c0015t0001g0004 a0010c0016t0001g0003 a0012c0009t0001g0012	359	450	0.7978	3	c.917 others(10): Show c.917_919dupGCG	p.Gly others(6): Show p.Gly306dup	FOXF2	ENSG00000137273.6	transcript	ENST00000645481.2	protein_coding	1/2	1292/2451	920/1335	307/444	INFO_REALIGN_3_PRIME	chr6	TogoVar
FOXG1_chr14_28761787_28775277	28767497	A A	AGCC AGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02647.hp2 HG02896.hp1 HG02896.hp2 HG02647.hp2 HG02896.hp1 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0017 a0002c0002t0001 a0002c0002t0017	a0002c0002t0001g0000 a0002c0002t0017g0000 a0002c0002t0001g0000 a0002c0002t0017g0000	3	422	0.0071	3	c.234 others(10): Show c.234_236dupGCC	p.Pro others(5): Show p.Pro79dup	FOXG1	ENSG00000176165.13	transcript	ENST00000313071.7	protein_coding	1/1	730/3491	237/1470	79/489	INFO_REALIGN_3_PRIME	chr14	TogoVar
FOXJ2_chr12_8027716_8060517	8047961	A A	ACAGCAGC others(8): Show ACAGCAGCAGCAGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00642.hp2 HG00642.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0082 a0006c0007t0001g0082	1	374	0.0027	15	c.905 others(22): Show c.905_919dupAGCAGCAGCAGCAGC	p.Gln others(13): Show p.Gln302_Gln306dup	FOXJ2	ENSG00000065970.9	transcript	ENST00000162391.8	protein_coding	7/11	2052/5524	920/1725	307/574	INFO_REALIGN_3_PRIME	chr12	TogoVar
FOXK2_chr17_82514732_82609602	82585915	T T	TCCAGTCA others(41): Show TCCAGTCAGCCAGTCTTAATCACCGTCCAGCGGCAGCTACCACAGGCCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02165.hp2 HG02165.hp2	a0021 a0021	a0021c0009 a0021c0009	a0021c0009t0006 a0021c0009t0006	a0021c0009t0006g0213 a0021c0009t0006g0213	1	308	0.0033	48	c.129 others(57): Show c.1292_1339dupCCAGTCAGCCAGTCTTAATCACCGTCCAGCGGCAGC TACCACAGGCCA	p.Ala others(61): Show p.Ala446_Ile447insThrSerGlnProValLeuIleThrValGlnAr gGlnLeuProGlnAla	FOXK2	ENSG00000141568.21	transcript	ENST00000335255.10	protein_coding	7/9	1497/5243	1340/1983	447/660	INFO_REALIGN_3_PRIME	chr17	TogoVar
FOXP2_chr7_114409815_114698765	114631524	C C	CCAG CCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02280.hp2 HG02970.hp1 HG02280.hp2 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0149 a0001c0003t0006g0150 a0001c0003t0006g0149 a0001c0003t0006g0150	2	174	0.0115	3	c.618 others(10): Show c.618_620dupGCA	p.Gln others(6): Show p.Gln207dup	FOXP2	ENSG00000128573.28	transcript	ENST00000350908.9	protein_coding	6/17	1177/6543	621/2148	207/715	INFO_REALIGN_3_PRIME	chr7	TogoVar
FSCB_chr14_44499149_44512283	44504951	A A	AGGGGCCT others(29): Show AGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp1 HG00140.hp2 HG00280.hp2 others(176): Show HG00140.hp1 HG00140.hp2 HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG01069.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01928.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02015.hp2 HG02040.hp2 HG02055.hp1 HG02071.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02155.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18940.hp1 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18948.hp2 NA18949.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18974.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp2 NA18990.hp1 NA18991.hp2 NA18993.hp1 NA18998.hp2 NA19000.hp2 NA19001.hp2 NA19003.hp1 NA19004.hp1 NA19005.hp1 NA19006.hp2 NA19007.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp2 NA19064.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp2 NA19076.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19088.hp2 NA20129.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp1	a0001 a0011 a0017 others(2): Show a0001 a0011 a0017 a0020 a0021	a0001c0001 a0001c0006 a0001c0008 others(6): Show a0001c0001 a0001c0006 a0001c0008 a0001c0018 a0001c0027 a0011c0014 a0017c0024 a0020c0025 a0021c0019	a0001c0001t0002 a0001c0001t0009 a0001c0006t0003 others(11): Show a0001c0001t0002 a0001c0001t0009 a0001c0006t0003 a0001c0006t0004 a0001c0006t0012 a0001c0006t0013 a0001c0008t0002 a0001c0008t0008 a0001c0018t0002 a0001c0027t0005 a0011c0014t0002 a0017c0024t0002 a0020c0025t0002 a0021c0019t0002	a0001c0001t0002g0000 a0001c0001t0009g0000 a0001c0006t0003g0000 others(11): Show a0001c0001t0002g0000 a0001c0001t0009g0000 a0001c0006t0003g0000 a0001c0006t0004g0000 a0001c0006t0012g0000 a0001c0006t0013g0000 a0001c0008t0002g0000 a0001c0008t0008g0000 a0001c0018t0002g0000 a0001c0027t0005g0000 a0011c0014t0002g0000 a0017c0024t0002g0000 a0020c0025t0002g0000 a0021c0019t0002g0000	179	446	0.4014	36	c.203 others(45): Show c.2036_2037insCTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	p.Pro others(49): Show p.Pro679_Ala680insSerGluValGlnProProProAlaGluGluAl aPro	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	2332/3135	2036/2478	679/825		chr14	TogoVar
FSCB_chr14_44499149_44512283	44504951	A A	AGGGGCCT others(65): Show AGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGAGGGGGCCTCCTCAG CTGGTGGAGGCTGAACTTCAGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02083.hp2 HG02165.hp1 NA18994.hp1 others(1): Show HG02083.hp2 HG02165.hp1 NA18994.hp1 NA19074.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0006 a0007c0011t0006	a0007c0011t0006g0000 a0007c0011t0006g0000	4	446	0.0090	72	c.203 others(81): Show c.2036_2037insCGCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC CTCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	p.Pro others(85): Show p.Pro679_Ala680insAlaGluValGlnProProProAlaGluGluAl aProSerGluValGlnProProProAlaGluGluAlaPro	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	2332/3135	2036/2478	679/825		chr14	TogoVar
FSCB_chr14_44499149_44512283	44504951	A A	AGGGGCCT others(29): Show AGGGGCCTCCTCAGCTGGTGGAGGCTGAACTTCAGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp2 HG00280.hp1 HG00673.hp1 others(37): Show HG00099.hp2 HG00280.hp1 HG00673.hp1 HG01069.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01891.hp1 HG01943.hp1 HG02074.hp1 HG02109.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp2 HG02683.hp2 HG02717.hp1 HG02738.hp1 HG03017.hp1 HG03017.hp2 HG03471.hp1 HG03491.hp1 HG03688.hp2 HG03831.hp1 HG04115.hp2 HG04184.hp1 HG04228.hp2 NA18949.hp2 NA18960.hp1 NA18962.hp2 NA18964.hp2 NA18969.hp1 NA18971.hp1 NA18982.hp1 NA18986.hp1 NA19005.hp2 NA19070.hp1 NA19074.hp1	a0005 a0008 a0005 a0008	a0005c0005 a0008c0012 a0008c0020 a0005c0005 a0008c0012 a0008c0020	a0005c0005t0001 a0008c0012t0001 a0008c0020t0011 a0005c0005t0001 a0008c0012t0001 a0008c0020t0011	a0005c0005t0001g0000 a0008c0012t0001g0000 a0008c0020t0011g0000 a0005c0005t0001g0000 a0008c0012t0001g0000 a0008c0020t0011g0000	40	446	0.0897	36	c.200 others(45): Show c.2001_2036dupCGCTGAAGTTCAGCCTCCACCAGCTGAGGAGGCCCC	p.Pro others(49): Show p.Pro679_Ala680insAlaGluValGlnProProProAlaGluGluAl aPro	FSCB	ENSG00000189139.6	transcript	ENST00000340446.5	protein_coding	1/1	2332/3135	2036/2478	679/825		chr14	TogoVar
FUT6_chr19_5825408_5844702	5831668	G G	GTCCTTGG others(17): Show GTCCTTGGGGCTCTGGAAGTCGTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19089.hp2 NA19089.hp2	a0014 a0014	a0014c0019 a0014c0019	a0014c0019t0006 a0014c0019t0006	a0014c0019t0006g0112 a0014c0019t0006g0112	1	436	0.0023	24	c.876 others(31): Show c.876_899dupGGACGACTTCCAGAGCCCCAAGGA	p.Lys others(37): Show p.Lys299_Asp300insGluAspAspPheGlnSerProLys	FUT6	ENSG00000156413.15	transcript	ENST00000318336.10	protein_coding	3/3	2065/3326	899/1080	300/359		chr19	TogoVar
FZD1_chr7_91259433_91276326	91265144	A A	ACCG ACCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00280.hp1 HG00423.hp2 others(140): Show HG00099.hp1 HG00280.hp1 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00733.hp2 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02148.hp1 HG02155.hp2 HG02165.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02818.hp2 HG02895.hp1 HG02896.hp1 HG02922.hp1 HG02976.hp1 HG03017.hp2 HG03098.hp1 HG03139.hp1 HG03209.hp2 HG03239.hp1 HG03486.hp1 HG03490.hp1 HG03492.hp2 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG03704.hp2 HG03834.hp1 HG03834.hp2 HG04184.hp2 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18747.hp2 NA18939.hp1 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18945.hp2 NA18952.hp2 NA18955.hp1 NA18957.hp1 NA18959.hp2 NA18961.hp2 NA18962.hp1 NA18963.hp2 NA18968.hp2 NA18970.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp2 NA18982.hp2 NA18983.hp1 NA18990.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp1 NA18998.hp1 NA18998.hp2 NA19002.hp1 NA19003.hp2 NA19006.hp2 NA19009.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19056.hp1 NA19057.hp1 NA19062.hp2 NA19064.hp1 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19070.hp2 NA19072.hp2 NA19076.hp1 NA19077.hp2 NA19078.hp2 NA19079.hp1 NA19081.hp2 NA19086.hp1 NA19090.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp2 NA21309.hp1 NA21309.hp2	a0002 a0005 a0002 a0005	a0002c0002 a0002c0005 a0002c0007 others(1): Show a0002c0002 a0002c0005 a0002c0007 a0005c0010	a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 others(12): Show a0002c0002t0002 a0002c0002t0009 a0002c0002t0010 a0002c0002t0011 a0002c0002t0012 a0002c0002t0016 a0002c0002t0017 a0002c0002t0022 a0002c0002t0023 a0002c0002t0024 a0002c0002t0025 a0002c0002t0030 a0002c0005t0002 a0002c0007t0002 a0005c0010t0002	a0002c0002t0002g0000 a0002c0002t0009g0000 a0002c0002t0010g0000 others(12): Show a0002c0002t0002g0000 a0002c0002t0009g0000 a0002c0002t0010g0000 a0002c0002t0011g0000 a0002c0002t0012g0000 a0002c0002t0016g0000 a0002c0002t0017g0000 a0002c0002t0022g0000 a0002c0002t0023g0000 a0002c0002t0024g0000 a0002c0002t0025g0000 a0002c0002t0030g0000 a0002c0005t0002g0000 a0002c0007t0002g0000 a0005c0010t0002g0000	143	416	0.3438	3	c.276 others(10): Show c.276_278dupGCC	p.Pro others(5): Show p.Pro93dup	FZD1	ENSG00000157240.4	transcript	ENST00000287934.4	protein_coding	1/1	727/6894	279/1944	93/647	INFO_REALIGN_3_PRIME	chr7	TogoVar
GARIN5A_chr19_50461788_50481848	50476380	C C	CGGCCCCA others(14): Show CGGCCCCATCCTGCTGACGTCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18973.hp1 NA19002.hp1 NA19063.hp2 others(1): Show NA18973.hp1 NA19002.hp1 NA19063.hp2 NA19082.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0030 a0003c0004t0001g0190 a0003c0004t0001g0030 a0003c0004t0001g0190	4	414	0.0097	21	c.-13 others(26): Show c.-13_8dupTGACGTCAGCAGGATGGGGCC	p.Pro others(30): Show p.Pro3_Pro4insAspValSerArgMetGlyPro	GARIN5A	ENSG00000142530.11	transcript	ENST00000600100.6	protein_coding	1/5	468/1375	8/744	3/247		chr19	TogoVar
GDF11_chr12_55738122_55762264	55743400	C C	CGCG CGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG04115.hp1 NA18612.hp1 NA18747.hp2 others(9): Show HG04115.hp1 NA18612.hp1 NA18747.hp2 NA18951.hp2 NA18957.hp1 NA18957.hp2 NA18981.hp2 NA19011.hp2 NA19066.hp1 NA19074.hp2 NA19084.hp1 NA19088.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 others(1): Show a0002c0002t0001 a0002c0002t0003 a0002c0002t0007 a0002c0002t0012	a0002c0002t0001g0001 a0002c0002t0003g0003 a0002c0002t0007g0001 others(1): Show a0002c0002t0001g0001 a0002c0002t0003g0003 a0002c0002t0007g0001 a0002c0002t0012g0003	12	366	0.0328	3	c.114 others(10): Show c.114_116dupGGC	p.Ala others(5): Show p.Ala39dup	GDF11	ENSG00000135414.10	transcript	ENST00000257868.10	protein_coding	1/3	312/8801	117/1224	39/407	INFO_REALIGN_3_PRIME	chr12	TogoVar
GDF11_chr12_55738122_55762264	55743400	C C	CGCGGCGG others(5): Show CGCGGCGGCGGCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02145.hp2 HG02145.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0001 a0003c0004t0005g0001	1	366	0.0027	12	c.105 others(19): Show c.105_116dupGGCGGCGGCGGC	p.Ala others(11): Show p.Ala36_Ala39dup	GDF11	ENSG00000135414.10	transcript	ENST00000257868.10	protein_coding	1/3	312/8801	117/1224	39/407	INFO_REALIGN_3_PRIME	chr12	TogoVar
GDF1_chr19_18863545_18901158	18869245	T T	TGCC TGCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00544.hp2 HG00597.hp2 HG01123.hp1 others(21): Show HG00544.hp2 HG00597.hp2 HG01123.hp1 HG01168.hp2 HG01243.hp1 HG02071.hp1 HG02165.hp1 HG02523.hp1 HG02630.hp1 HG02895.hp1 HG02897.hp2 HG04199.hp1 NA18747.hp1 NA18940.hp2 NA18952.hp2 NA18955.hp1 NA18960.hp2 NA18979.hp1 NA18994.hp2 NA19005.hp1 NA19056.hp2 NA19079.hp1 NA19087.hp1 NA20752.hp2	a0003 a0005 a0003 a0005	a0003c0003 a0005c0006 a0003c0003 a0005c0006	a0003c0003t0002 a0003c0003t0003 a0005c0006t0002 a0003c0003t0002 a0003c0003t0003 a0005c0006t0002	a0003c0003t0002g0006 a0003c0003t0002g0008 a0003c0003t0002g0230 others(16): Show a0003c0003t0002g0006 a0003c0003t0002g0008 a0003c0003t0002g0230 a0003c0003t0002g0243 a0003c0003t0002g0244 a0003c0003t0002g0245 a0003c0003t0002g0248 a0003c0003t0002g0249 a0003c0003t0002g0250 a0003c0003t0002g0251 a0003c0003t0002g0252 a0003c0003t0002g0253 a0003c0003t0002g0254 a0003c0003t0002g0260 a0003c0003t0002g0282 a0003c0003t0002g0283 a0003c0003t0003g0210 a0005c0006t0002g0279 a0005c0006t0002g0291	24	380	0.0632	3	c.468 others(10): Show c.468_470dupGGC	p.Ala others(6): Show p.Ala157dup	GDF1	ENSG00000130283.9	transcript	ENST00000247005.8	protein_coding	8/8	1878/2579	470/1119	157/372		chr19	TogoVar
GDF3_chr12_7684784_7700775	7690640	A A	AAAGTAGA others(17): Show AAAGTAGAGGAGCTTCTGCAGGCAG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18994.hp2 NA18994.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0132 a0005c0005t0001g0132	1	468	0.0021	24	c.309 others(31): Show c.309_332dupCTGCCTGCAGAAGCTCCTCTACTT	p.Phe others(37): Show p.Phe111_Asn112insCysLeuGlnLysLeuLeuTyrPhe	GDF3	ENSG00000184344.4	transcript	ENST00000329913.4	protein_coding	2/2	379/1236	332/1095	111/364		chr12	TogoVar
GDF7_chr2_20662144_20684243	20667362	G G	GGGCGGC GGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01243.hp2 HG01884.hp2 HG02257.hp2 others(7): Show HG01243.hp2 HG01884.hp2 HG02257.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp2 HG03516.hp2	a0007 a0008 a0007 a0008	a0007c0010 a0007c0029 a0008c0009 a0007c0010 a0007c0029 a0008c0009	a0007c0010t0066 a0007c0010t0234 a0007c0010t0235 others(4): Show a0007c0010t0066 a0007c0010t0234 a0007c0010t0235 a0007c0029t0236 a0008c0009t0024 a0008c0009t0114 a0008c0009t0166	a0007c0010t0066g0008 a0007c0010t0234g0008 a0007c0010t0235g0008 others(4): Show a0007c0010t0066g0008 a0007c0010t0234g0008 a0007c0010t0235g0008 a0007c0029t0236g0008 a0008c0009t0024g0001 a0008c0009t0114g0001 a0008c0009t0166g0001	10	442	0.0226	6	c.144 others(13): Show c.144_149dupCGGCGG	p.Gly others(11): Show p.Gly49_Gly50dup	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	1/2	246/9267	150/1353	50/450	INFO_REALIGN_3_PRIME	chr2	TogoVar
GDF7_chr2_20662144_20684243	20667362	G G	GGGCGGCG others(2): Show GGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(329): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 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 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.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 HG01891.hp1 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 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp2 NA18956.hp2 NA18957.hp2 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18990.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19004.hp2 NA19005.hp1 NA19005.hp2 NA19006.hp1 NA19006.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19078.hp1 NA19078.hp2 NA19080.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0014 others(3): Show a0001 a0003 a0014 a0015 a0016 a0018	a0001c0001 a0001c0005 a0001c0008 others(10): Show a0001c0001 a0001c0005 a0001c0008 a0001c0012 a0001c0017 a0001c0024 a0001c0026 a0001c0027 a0003c0003 a0014c0028 a0015c0025 a0016c0023 a0018c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(176): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0016 a0001c0001t0017 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0025 a0001c0001t0026 a0001c0001t0028 a0001c0001t0029 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0045 a0001c0001t0046 a0001c0001t0047 a0001c0001t0048 a0001c0001t0049 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0054 a0001c0001t0055 a0001c0001t0056 a0001c0001t0059 a0001c0001t0060 a0001c0001t0064 a0001c0001t0104 a0001c0001t0113 a0001c0001t0115 a0001c0001t0116 a0001c0001t0117 a0001c0001t0119 a0001c0001t0121 a0001c0001t0122 a0001c0001t0123 a0001c0001t0124 a0001c0001t0125 a0001c0001t0126 a0001c0001t0128 a0001c0001t0129 a0001c0001t0130 a0001c0001t0131 a0001c0001t0132 a0001c0001t0133 a0001c0001t0137 a0001c0001t0138 a0001c0001t0140 a0001c0001t0141 a0001c0001t0142 a0001c0001t0143 a0001c0001t0144 a0001c0001t0145 a0001c0001t0146 a0001c0001t0147 a0001c0001t0149 a0001c0001t0150 a0001c0001t0151 a0001c0001t0152 a0001c0001t0153 a0001c0001t0154 a0001c0001t0155 a0001c0001t0156 a0001c0001t0157 a0001c0001t0158 a0001c0001t0159 a0001c0001t0160 a0001c0001t0161 a0001c0001t0162 a0001c0001t0163 a0001c0001t0164 a0001c0001t0165 a0001c0001t0167 a0001c0001t0168 a0001c0001t0169 a0001c0001t0170 a0001c0001t0171 a0001c0001t0172 a0001c0001t0173 a0001c0001t0174 a0001c0001t0175 a0001c0001t0176 a0001c0001t0177 a0001c0001t0178 a0001c0001t0179 a0001c0001t0180 a0001c0001t0181 a0001c0001t0182 a0001c0001t0185 a0001c0001t0186 a0001c0001t0189 a0001c0001t0192 a0001c0001t0193 a0001c0001t0195 a0001c0001t0196 a0001c0001t0199 a0001c0001t0201 a0001c0001t0202 a0001c0001t0203 a0001c0001t0204 a0001c0001t0205 a0001c0001t0206 a0001c0001t0207 a0001c0001t0208 a0001c0001t0209 a0001c0001t0210 a0001c0001t0213 a0001c0001t0214 a0001c0001t0215 a0001c0001t0216 a0001c0001t0217 a0001c0001t0218 a0001c0001t0219 a0001c0001t0220 a0001c0001t0223 a0001c0001t0224 a0001c0001t0230 a0001c0001t0232 a0001c0001t0233 a0001c0001t0237 a0001c0001t0238 a0001c0001t0240 a0001c0001t0243 a0001c0001t0245 a0001c0001t0248 a0001c0001t0249 a0001c0001t0250 a0001c0001t0251 a0001c0001t0252 a0001c0005t0037 a0001c0005t0068 a0001c0005t0083 a0001c0005t0084 a0001c0005t0085 a0001c0005t0086 a0001c0005t0099 a0001c0008t0225 a0001c0008t0226 a0001c0008t0227 a0001c0008t0228 a0001c0008t0231 a0001c0012t0065 a0001c0012t0222 a0001c0017t0058 a0001c0024t0200 a0001c0026t0107 a0001c0027t0011 a0003c0003t0008 a0003c0003t0012 a0003c0003t0027 a0003c0003t0061 a0003c0003t0062 a0003c0003t0063 a0003c0003t0134 a0003c0003t0187 a0003c0003t0188 a0003c0003t0190 a0003c0003t0191 a0003c0003t0194 a0003c0003t0197 a0003c0003t0198 a0003c0003t0211 a0014c0028t0244 a0015c0025t0112 a0016c0023t0229 a0018c0018t0120	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(190): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0002g0001 a0001c0001t0003g0001 a0001c0001t0003g0014 a0001c0001t0005g0001 a0001c0001t0006g0001 a0001c0001t0006g0004 a0001c0001t0006g0007 a0001c0001t0007g0001 a0001c0001t0007g0007 a0001c0001t0008g0001 a0001c0001t0009g0001 a0001c0001t0009g0004 a0001c0001t0010g0001 a0001c0001t0011g0005 a0001c0001t0013g0001 a0001c0001t0016g0004 a0001c0001t0017g0001 a0001c0001t0020g0001 a0001c0001t0021g0001 a0001c0001t0022g0001 a0001c0001t0023g0001 a0001c0001t0025g0001 a0001c0001t0026g0001 a0001c0001t0028g0005 a0001c0001t0028g0025 a0001c0001t0029g0001 a0001c0001t0041g0001 a0001c0001t0042g0004 a0001c0001t0043g0001 a0001c0001t0044g0001 a0001c0001t0045g0001 a0001c0001t0046g0001 a0001c0001t0047g0001 a0001c0001t0047g0007 a0001c0001t0048g0001 a0001c0001t0049g0001 a0001c0001t0050g0001 a0001c0001t0051g0001 a0001c0001t0052g0001 a0001c0001t0052g0004 a0001c0001t0053g0001 a0001c0001t0053g0007 a0001c0001t0054g0001 a0001c0001t0055g0001 a0001c0001t0056g0001 a0001c0001t0059g0001 a0001c0001t0059g0023 a0001c0001t0060g0001 a0001c0001t0064g0001 a0001c0001t0104g0001 a0001c0001t0113g0026 a0001c0001t0115g0001 a0001c0001t0116g0001 a0001c0001t0117g0001 a0001c0001t0119g0012 a0001c0001t0121g0012 a0001c0001t0122g0001 a0001c0001t0123g0001 a0001c0001t0124g0015 a0001c0001t0125g0001 a0001c0001t0126g0001 a0001c0001t0128g0009 a0001c0001t0129g0009 a0001c0001t0130g0004 a0001c0001t0131g0001 a0001c0001t0132g0001 a0001c0001t0133g0001 a0001c0001t0137g0022 a0001c0001t0138g0021 a0001c0001t0140g0004 a0001c0001t0141g0001 a0001c0001t0142g0001 a0001c0001t0143g0001 a0001c0001t0144g0001 a0001c0001t0145g0001 a0001c0001t0146g0004 a0001c0001t0147g0004 a0001c0001t0149g0001 a0001c0001t0150g0004 a0001c0001t0151g0001 a0001c0001t0152g0007 a0001c0001t0153g0004 a0001c0001t0154g0001 a0001c0001t0155g0001 a0001c0001t0156g0001 a0001c0001t0157g0001 a0001c0001t0158g0004 a0001c0001t0159g0001 a0001c0001t0160g0001 a0001c0001t0161g0001 a0001c0001t0162g0001 a0001c0001t0163g0001 a0001c0001t0164g0001 a0001c0001t0165g0001 a0001c0001t0167g0001 a0001c0001t0168g0001 a0001c0001t0169g0001 a0001c0001t0170g0001 a0001c0001t0171g0001 a0001c0001t0172g0001 a0001c0001t0173g0001 a0001c0001t0174g0001 a0001c0001t0175g0001 a0001c0001t0176g0001 a0001c0001t0177g0001 a0001c0001t0178g0001 a0001c0001t0179g0001 a0001c0001t0180g0001 a0001c0001t0181g0001 a0001c0001t0182g0001 a0001c0001t0185g0001 a0001c0001t0186g0001 a0001c0001t0189g0024 a0001c0001t0192g0001 a0001c0001t0193g0001 a0001c0001t0195g0001 a0001c0001t0196g0001 a0001c0001t0199g0001 a0001c0001t0201g0004 a0001c0001t0202g0014 a0001c0001t0203g0001 a0001c0001t0204g0028 a0001c0001t0205g0001 a0001c0001t0206g0001 a0001c0001t0207g0001 a0001c0001t0208g0001 a0001c0001t0209g0001 a0001c0001t0210g0001 a0001c0001t0213g0001 a0001c0001t0214g0001 a0001c0001t0215g0001 a0001c0001t0216g0001 a0001c0001t0217g0001 a0001c0001t0218g0001 a0001c0001t0219g0001 a0001c0001t0220g0001 a0001c0001t0223g0001 a0001c0001t0224g0001 a0001c0001t0230g0001 a0001c0001t0232g0006 a0001c0001t0233g0009 a0001c0001t0237g0009 a0001c0001t0238g0027 a0001c0001t0240g0009 a0001c0001t0243g0001 a0001c0001t0245g0001 a0001c0001t0248g0001 a0001c0001t0249g0001 a0001c0001t0250g0001 a0001c0001t0251g0001 a0001c0001t0252g0001 a0001c0005t0037g0017 a0001c0005t0068g0017 a0001c0005t0083g0011 a0001c0005t0084g0011 a0001c0005t0085g0011 a0001c0005t0086g0011 a0001c0005t0099g0011 a0001c0008t0225g0006 a0001c0008t0226g0006 a0001c0008t0227g0006 a0001c0008t0228g0006 a0001c0008t0231g0006 a0001c0012t0065g0001 a0001c0012t0222g0001 a0001c0017t0058g0001 a0001c0024t0200g0001 a0001c0026t0107g0001 a0001c0027t0011g0005 a0003c0003t0008g0003 a0003c0003t0012g0003 a0003c0003t0027g0003 a0003c0003t0061g0003 a0003c0003t0062g0003 a0003c0003t0063g0003 a0003c0003t0134g0003 a0003c0003t0187g0003 a0003c0003t0188g0003 a0003c0003t0190g0003 a0003c0003t0191g0003 a0003c0003t0194g0003 a0003c0003t0197g0003 a0003c0003t0198g0003 a0003c0003t0211g0003 a0014c0028t0244g0001 a0015c0025t0112g0005 a0016c0023t0229g0006 a0018c0018t0120g0012	332	442	0.7511	9	c.141 others(16): Show c.141_149dupCGGCGGCGG	p.Gly others(11): Show p.Gly48_Gly50dup	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	1/2	246/9267	150/1353	50/450	INFO_REALIGN_3_PRIME	chr2	TogoVar
GDF7_chr2_20662144_20684243	20667362	G G	GGGCGGCG others(5): Show GGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01081.hp2 HG02055.hp2 HG03209.hp1 others(7): Show HG01081.hp2 HG02055.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03654.hp2 HG03688.hp1 HG03927.hp2 HG03942.hp2 HG04199.hp1	a0005 a0011 a0005 a0011	a0005c0007 a0005c0016 a0011c0015 a0005c0007 a0005c0016 a0011c0015	a0005c0007t0106 a0005c0007t0135 a0005c0007t0136 others(7): Show a0005c0007t0106 a0005c0007t0135 a0005c0007t0136 a0005c0007t0239 a0005c0007t0246 a0005c0007t0247 a0005c0016t0108 a0005c0016t0109 a0011c0015t0110 a0011c0015t0111	a0005c0007t0106g0001 a0005c0007t0135g0020 a0005c0007t0136g0016 others(7): Show a0005c0007t0106g0001 a0005c0007t0135g0020 a0005c0007t0136g0016 a0005c0007t0239g0009 a0005c0007t0246g0016 a0005c0007t0247g0029 a0005c0016t0108g0001 a0005c0016t0109g0001 a0011c0015t0110g0012 a0011c0015t0111g0012	10	442	0.0226	12	c.138 others(19): Show c.138_149dupCGGCGGCGGCGG	p.Gly others(11): Show p.Gly47_Gly50dup	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	1/2	246/9267	150/1353	50/450	INFO_REALIGN_3_PRIME	chr2	TogoVar
GDF7_chr2_20662144_20684243	20667362	G G	GGGCGGCG others(8): Show GGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19043.hp2 NA19043.hp2	a0013 a0013	a0013c0022 a0013c0022	a0013c0022t0241 a0013c0022t0241	a0013c0022t0241g0001 a0013c0022t0241g0001	1	442	0.0023	15	c.135 others(22): Show c.135_149dupCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly46_Gly50dup	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	1/2	246/9267	150/1353	50/450	INFO_REALIGN_3_PRIME	chr2	TogoVar
GDF7_chr2_20662144_20684243	20667362	G G	GGGCGGCG others(11): Show GGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00438.hp2 HG00621.hp2 HG00673.hp1 others(56): Show HG00438.hp2 HG00621.hp2 HG00673.hp1 HG01106.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01358.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02074.hp1 HG02145.hp1 HG02258.hp1 HG02300.hp1 HG02630.hp1 HG02647.hp2 HG02735.hp1 HG02922.hp2 HG03041.hp1 HG03139.hp2 HG03490.hp2 HG03492.hp1 HG03710.hp1 HG04184.hp2 NA18939.hp2 NA18941.hp1 NA18942.hp1 NA18944.hp1 NA18945.hp1 NA18950.hp1 NA18955.hp1 NA18956.hp1 NA18957.hp1 NA18960.hp1 NA18963.hp1 NA18964.hp2 NA18966.hp1 NA18972.hp1 NA18975.hp1 NA18981.hp1 NA18983.hp2 NA18984.hp1 NA19004.hp1 NA19012.hp1 NA19030.hp1 NA19056.hp2 NA19068.hp2 NA19070.hp2 NA19081.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0014 a0002c0002 a0002c0014	a0002c0002t0004 a0002c0002t0014 a0002c0002t0018 others(38): Show a0002c0002t0004 a0002c0002t0014 a0002c0002t0018 a0002c0002t0019 a0002c0002t0030 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0002t0034 a0002c0002t0035 a0002c0002t0036 a0002c0002t0037 a0002c0002t0069 a0002c0002t0071 a0002c0002t0073 a0002c0002t0074 a0002c0002t0075 a0002c0002t0076 a0002c0002t0077 a0002c0002t0078 a0002c0002t0079 a0002c0002t0081 a0002c0002t0082 a0002c0002t0087 a0002c0002t0088 a0002c0002t0089 a0002c0002t0090 a0002c0002t0091 a0002c0002t0092 a0002c0002t0093 a0002c0002t0094 a0002c0002t0095 a0002c0002t0096 a0002c0002t0097 a0002c0002t0098 a0002c0002t0100 a0002c0002t0101 a0002c0002t0102 a0002c0002t0103 a0002c0002t0242 a0002c0014t0057	a0002c0002t0004g0002 a0002c0002t0014g0002 a0002c0002t0018g0002 others(38): Show a0002c0002t0004g0002 a0002c0002t0014g0002 a0002c0002t0018g0002 a0002c0002t0019g0002 a0002c0002t0030g0002 a0002c0002t0031g0002 a0002c0002t0032g0002 a0002c0002t0033g0002 a0002c0002t0034g0002 a0002c0002t0035g0002 a0002c0002t0036g0002 a0002c0002t0037g0002 a0002c0002t0069g0002 a0002c0002t0071g0002 a0002c0002t0073g0002 a0002c0002t0074g0002 a0002c0002t0075g0002 a0002c0002t0076g0002 a0002c0002t0077g0002 a0002c0002t0078g0002 a0002c0002t0079g0002 a0002c0002t0081g0002 a0002c0002t0082g0002 a0002c0002t0087g0002 a0002c0002t0088g0002 a0002c0002t0089g0002 a0002c0002t0090g0002 a0002c0002t0091g0002 a0002c0002t0092g0002 a0002c0002t0093g0002 a0002c0002t0094g0002 a0002c0002t0095g0002 a0002c0002t0096g0002 a0002c0002t0097g0002 a0002c0002t0098g0019 a0002c0002t0100g0002 a0002c0002t0101g0002 a0002c0002t0102g0002 a0002c0002t0103g0002 a0002c0002t0242g0002 a0002c0014t0057g0001	59	442	0.1335	18	c.132 others(25): Show c.132_149dupCGGCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly45_Gly50dup	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	1/2	246/9267	150/1353	50/450	INFO_REALIGN_3_PRIME	chr2	TogoVar
GDF7_chr2_20662144_20684243	20667362	G G	GGGCGGCG others(14): Show GGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00423.hp1 HG02015.hp1 HG03017.hp1 others(10): Show HG00423.hp1 HG02015.hp1 HG03017.hp1 NA18947.hp1 NA18969.hp1 NA18969.hp2 NA18978.hp1 NA18990.hp1 NA19003.hp2 NA19007.hp2 NA19055.hp2 NA19075.hp2 NA19080.hp2	a0004 a0004	a0004c0004 a0004c0021 a0004c0004 a0004c0021	a0004c0004t0004 a0004c0004t0032 a0004c0004t0035 others(6): Show a0004c0004t0004 a0004c0004t0032 a0004c0004t0035 a0004c0004t0038 a0004c0004t0039 a0004c0004t0070 a0004c0004t0072 a0004c0004t0080 a0004c0021t0148	a0004c0004t0004g0002 a0004c0004t0032g0002 a0004c0004t0035g0002 others(6): Show a0004c0004t0004g0002 a0004c0004t0032g0002 a0004c0004t0035g0002 a0004c0004t0038g0002 a0004c0004t0039g0002 a0004c0004t0070g0002 a0004c0004t0072g0002 a0004c0004t0080g0002 a0004c0021t0148g0004	13	442	0.0294	21	c.129 others(28): Show c.129_149dupCGGCGGCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly44_Gly50dup	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	1/2	246/9267	150/1353	50/450	INFO_REALIGN_3_PRIME	chr2	TogoVar
GDF7_chr2_20662144_20684243	20667362	G G	GGGCGGCG others(17): Show GGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02970.hp2 HG02970.hp2	a0012 a0012	a0012c0020 a0012c0020	a0012c0020t0221 a0012c0020t0221	a0012c0020t0221g0001 a0012c0020t0221g0001	1	442	0.0023	24	c.126 others(31): Show c.126_149dupCGGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly43_Gly50dup	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	1/2	246/9267	150/1353	50/450	INFO_REALIGN_3_PRIME	chr2	TogoVar
GDF7_chr2_20662144_20684243	20667362	G G	GGGCGGCG others(20): Show GGGCGGCGGCGGCGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02559.hp1 HG03471.hp1 HG02559.hp1 HG03471.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0183 a0010c0013t0184 a0010c0013t0183 a0010c0013t0184	a0010c0013t0183g0001 a0010c0013t0184g0001 a0010c0013t0183g0001 a0010c0013t0184g0001	2	442	0.0045	27	c.149 others(34): Show c.149_150insCGGCGGCGGCGGCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly42_Gly50dup	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	1/2	246/9267	150/1353	50/450	INFO_REALIGN_3_PRIME	chr2	TogoVar
GDF7_chr2_20662144_20684243	20667362	G G	GGGGGGCG others(5): Show GGGGGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19091.hp1 NA19091.hp1	a0005 a0005	a0005c0031 a0005c0031	a0005c0031t0041 a0005c0031t0041	a0005c0031t0041g0001 a0005c0031t0041g0001	1	442	0.0023	12	c.125 others(19): Show c.125_126insGGGCGGCGGCGG	p.Gly others(23): Show p.Gly42_Gly43insGlyGlyGlyGly	GDF7	ENSG00000143869.7	transcript	ENST00000272224.5	protein_coding	1/2	222/9267	126/1353	42/450	INFO_REALIGN_3_PRIME	chr2	TogoVar
GFI1_chr1_92468043_92491925	92482940	G G	GCTGTCTG others(14): Show GCTGTCTGGGGATGCGGAGGCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02818.hp2 HG02818.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0018 a0004c0008t0018	a0004c0008t0018g0101 a0004c0008t0018g0101	1	342	0.0029	21	c.201 others(28): Show c.201_221dupAGCCTCCGCATCCCCAGACAG	p.Arg others(11): Show p.Arg67_Asp73dup	GFI1	ENSG00000162676.13	transcript	ENST00000294702.6	protein_coding	3/7	520/4554	221/1269	74/422		chr1	TogoVar
GGN_chr19_38379267_38393034	38385765	A A	AGCCGGGG others(17): Show AGCCGGGGATGGGGCCGGGGCCGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00438.hp1 HG00544.hp1 HG00609.hp1 others(79): Show HG00438.hp1 HG00544.hp1 HG00609.hp1 HG00673.hp2 HG00733.hp1 HG01106.hp1 HG01123.hp1 HG01192.hp1 HG01346.hp1 HG01934.hp1 HG02015.hp1 HG02055.hp2 HG02080.hp1 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02300.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02896.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03654.hp1 NA18747.hp2 NA18939.hp2 NA18943.hp2 NA18945.hp1 NA18950.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp2 NA18955.hp2 NA18956.hp1 NA18960.hp1 NA18962.hp1 NA18965.hp2 NA18968.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18974.hp2 NA18975.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18989.hp1 NA18990.hp2 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19007.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp2 NA19067.hp1 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp1 NA20300.hp2	a0003 a0005 a0006 others(5): Show a0003 a0005 a0006 a0007 a0010 a0014 a0015 a0019	a0003c0002 a0003c0024 a0005c0005 others(7): Show a0003c0002 a0003c0024 a0005c0005 a0006c0006 a0007c0008 a0007c0017 a0010c0007 a0014c0014 a0015c0013 a0019c0021	a0003c0002t0001 a0003c0024t0001 a0005c0005t0001 others(7): Show a0003c0002t0001 a0003c0024t0001 a0005c0005t0001 a0006c0006t0001 a0007c0008t0001 a0007c0017t0001 a0010c0007t0002 a0014c0014t0001 a0015c0013t0002 a0019c0021t0001	a0003c0002t0001g0003 a0003c0002t0001g0023 a0003c0024t0001g0029 others(9): Show a0003c0002t0001g0003 a0003c0002t0001g0023 a0003c0024t0001g0029 a0005c0005t0001g0006 a0006c0006t0001g0007 a0007c0008t0001g0017 a0007c0008t0001g0034 a0007c0017t0001g0032 a0010c0007t0002g0009 a0014c0014t0001g0013 a0015c0013t0002g0012 a0019c0021t0001g0033	82	392	0.2092	24	c.149 others(33): Show c.1496_1497insCCCGGCCCCGGCCCCATCCCCGGC	p.Ala others(37): Show p.Ala499_Pro500insProAlaProAlaProSerProAla	GGN	ENSG00000179168.15	transcript	ENST00000334928.11	protein_coding	3/4	1637/2245	1496/1959	499/652		chr19	TogoVar
GGN_chr19_38379267_38393034	38385765	A A	AGCCGGGG others(23): Show AGCCGGGGATGGGGCCGGGGCCGGGGCCGGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01891.hp2 HG03098.hp2 HG01891.hp2 HG03098.hp2	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0003 a0013c0015t0003	a0013c0015t0003g0014 a0013c0015t0003g0014	2	392	0.0051	30	c.149 others(39): Show c.1496_1497insCCCGGCCCCGGCCCCGGCCCCATCCCCGGC	p.Ala others(43): Show p.Ala499_Pro500insProAlaProAlaProAlaProSerProAla	GGN	ENSG00000179168.15	transcript	ENST00000334928.11	protein_coding	3/4	1637/2245	1496/1959	499/652		chr19	TogoVar
GIGYF2_chr2_232692331_232865605	232847516	C C	CGCA CGCA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00140.hp2 HG00323.hp2 HG00597.hp2 others(48): Show HG00140.hp2 HG00323.hp2 HG00597.hp2 HG00609.hp1 HG01496.hp2 HG01978.hp2 HG01981.hp2 HG02083.hp1 HG02132.hp2 HG02155.hp2 HG02723.hp1 HG03654.hp2 HG03688.hp2 HG03704.hp2 HG03927.hp2 HG04184.hp1 HG04199.hp1 NA18747.hp1 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18949.hp1 NA18950.hp1 NA18956.hp2 NA18959.hp2 NA18960.hp2 NA18961.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp1 NA18971.hp2 NA18973.hp2 NA18977.hp1 NA18981.hp1 NA18987.hp2 NA18991.hp1 NA19000.hp2 NA19001.hp1 NA19005.hp2 NA19012.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19065.hp1 NA19067.hp1 NA19077.hp1 NA19080.hp1 NA19085.hp1 NA19086.hp2	a0003 a0011 a0003 a0011	a0003c0004 a0003c0007 a0003c0014 others(1): Show a0003c0004 a0003c0007 a0003c0014 a0011c0017	a0003c0004t0001 a0003c0007t0001 a0003c0014t0001 others(1): Show a0003c0004t0001 a0003c0007t0001 a0003c0014t0001 a0011c0017t0001	a0003c0004t0001g0192 a0003c0004t0001g0245 a0003c0004t0001g0246 others(48): Show a0003c0004t0001g0192 a0003c0004t0001g0245 a0003c0004t0001g0246 a0003c0004t0001g0247 a0003c0004t0001g0248 a0003c0004t0001g0249 a0003c0004t0001g0250 a0003c0004t0001g0251 a0003c0004t0001g0253 a0003c0004t0001g0254 a0003c0004t0001g0256 a0003c0004t0001g0257 a0003c0004t0001g0258 a0003c0004t0001g0259 a0003c0004t0001g0260 a0003c0004t0001g0261 a0003c0004t0001g0262 a0003c0004t0001g0264 a0003c0004t0001g0265 a0003c0004t0001g0266 a0003c0004t0001g0267 a0003c0004t0001g0268 a0003c0004t0001g0269 a0003c0004t0001g0270 a0003c0004t0001g0271 a0003c0004t0001g0272 a0003c0004t0001g0273 a0003c0004t0001g0274 a0003c0004t0001g0275 a0003c0004t0001g0276 a0003c0004t0001g0280 a0003c0004t0001g0281 a0003c0004t0001g0282 a0003c0004t0001g0283 a0003c0004t0001g0284 a0003c0004t0001g0285 a0003c0004t0001g0286 a0003c0004t0001g0287 a0003c0004t0001g0289 a0003c0004t0001g0290 a0003c0004t0001g0291 a0003c0004t0001g0292 a0003c0004t0001g0293 a0003c0004t0001g0304 a0003c0004t0001g0357 a0003c0007t0001g0277 a0003c0007t0001g0278 a0003c0007t0001g0279 a0003c0007t0001g0288 a0003c0014t0001g0263 a0011c0017t0001g0363	51	376	0.1356	3	c.362 others(12): Show c.3629_3630insGCA	p.Pro others(18): Show p.Pro1210_Gln1211insGln	GIGYF2	ENSG00000204120.16	transcript	ENST00000373563.9	protein_coding	27/29	3801/7816	3630/3900	1210/1299		chr2	TogoVar
GLCCI1_chr7_7963796_8094080	7969479	G G	GGGC GGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01243.hp2 HG02055.hp2 HG02145.hp2 others(14): Show HG01243.hp2 HG02055.hp2 HG02145.hp2 HG02280.hp1 HG02647.hp2 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03540.hp2 NA18906.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0012 a0002c0003t0019 others(4): Show a0002c0003t0011 a0002c0003t0012 a0002c0003t0019 a0002c0003t0020 a0002c0003t0033 a0002c0003t0034 a0002c0003t0059	a0002c0003t0011g0006 a0002c0003t0011g0007 a0002c0003t0011g0008 others(14): Show a0002c0003t0011g0006 a0002c0003t0011g0007 a0002c0003t0011g0008 a0002c0003t0011g0010 a0002c0003t0011g0011 a0002c0003t0011g0216 a0002c0003t0012g0199 a0002c0003t0019g0005 a0002c0003t0020g0383 a0002c0003t0020g0384 a0002c0003t0020g0385 a0002c0003t0020g0386 a0002c0003t0033g0381 a0002c0003t0033g0382 a0002c0003t0034g0114 a0002c0003t0034g0379 a0002c0003t0059g0380	17	416	0.0409	3	c.143 others(10): Show c.143_145dupGCG	p.Gly others(5): Show p.Gly48dup	GLCCI1	ENSG00000106415.13	transcript	ENST00000223145.10	protein_coding	1/8	701/4741	146/1644	49/547	INFO_REALIGN_3_PRIME	chr7	TogoVar
GNAL_chr18_11684264_11890685	11689670	C C	CGGCCCT CGGCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00741.hp1 HG01081.hp2 HG01167.hp1 others(27): Show HG00741.hp1 HG01081.hp2 HG01167.hp1 HG01175.hp1 HG01192.hp1 HG01256.hp2 HG01433.hp1 HG01891.hp2 HG02080.hp2 HG02615.hp2 HG02683.hp2 HG02723.hp1 HG02809.hp1 HG02896.hp2 HG03041.hp2 HG03209.hp2 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp2 HG03579.hp2 HG04204.hp1 HG06807.hp2 NA18945.hp1 NA19084.hp2 NA19090.hp2 NA20905.hp1 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0003 a0003c0006 a0002c0002 a0003c0003 a0003c0006	a0002c0002t0005 a0002c0002t0013 a0002c0002t0037 others(22): Show a0002c0002t0005 a0002c0002t0013 a0002c0002t0037 a0002c0002t0038 a0002c0002t0039 a0002c0002t0044 a0002c0002t0046 a0002c0002t0047 a0002c0002t0048 a0002c0002t0050 a0002c0002t0051 a0002c0002t0055 a0002c0002t0056 a0002c0002t0058 a0002c0002t0061 a0002c0002t0062 a0002c0002t0066 a0003c0003t0011 a0003c0003t0014 a0003c0003t0041 a0003c0003t0049 a0003c0003t0054 a0003c0003t0063 a0003c0003t0067 a0003c0006t0068	a0002c0002t0005g0045 a0002c0002t0005g0047 a0002c0002t0005g0052 others(27): Show a0002c0002t0005g0045 a0002c0002t0005g0047 a0002c0002t0005g0052 a0002c0002t0005g0054 a0002c0002t0013g0086 a0002c0002t0013g0087 a0002c0002t0037g0043 a0002c0002t0038g0051 a0002c0002t0039g0095 a0002c0002t0044g0049 a0002c0002t0046g0050 a0002c0002t0047g0053 a0002c0002t0048g0083 a0002c0002t0050g0058 a0002c0002t0051g0048 a0002c0002t0055g0044 a0002c0002t0056g0046 a0002c0002t0058g0084 a0002c0002t0061g0088 a0002c0002t0062g0085 a0002c0002t0066g0057 a0003c0003t0011g0079 a0003c0003t0011g0096 a0003c0003t0014g0097 a0003c0003t0041g0090 a0003c0003t0049g0089 a0003c0003t0054g0055 a0003c0003t0063g0091 a0003c0003t0067g0056 a0003c0006t0068g0082	30	248	0.1210	6	c.113 others(13): Show c.113_118dupTGGCCC	p.Leu others(11): Show p.Leu38_Ala39dup	GNAL	ENSG00000141404.17	transcript	ENST00000334049.11	protein_coding	1/12	419/6227	119/1377	40/458	INFO_REALIGN_3_PRIME	chr18	TogoVar
GNAS_chr20_58847716_58916192	58854444	G G	GGCAGCCC others(2): Show GGCAGCCCCT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp2 HG02486.hp1 HG02647.hp1 others(1): Show HG01884.hp2 HG02486.hp1 HG02647.hp1 HG02809.hp1	a0004 a0004	a0004c0015 a0004c0027 a0004c0028 a0004c0015 a0004c0027 a0004c0028	a0004c0015t0001 a0004c0027t0001 a0004c0028t0001 a0004c0015t0001 a0004c0027t0001 a0004c0028t0001	a0004c0015t0001g0186 a0004c0015t0001g0187 a0004c0027t0001g0185 others(1): Show a0004c0015t0001g0186 a0004c0015t0001g0187 a0004c0027t0001g0185 a0004c0028t0001g0188	4	302	0.0133	9	c.118 others(18): Show c.1188_1196dupTGCAGCCCC	p.Pro others(22): Show p.Pro399_Ala400insAlaAlaPro	GNAS	ENSG00000087460.29	transcript	ENST00000371100.9	protein_coding	1/13	1747/4027	1197/3114	399/1037	INFO_REALIGN_3_PRIME	chr20	TogoVar
GNAS_chr20_58847716_58916192	58854641	C C	CTGACGCC others(29): Show CTGACGCCCCAGCCGATCCCGACTCCGGGGCGGCCCG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00738.hp2 HG01106.hp1 HG01256.hp1 others(33): Show HG00738.hp2 HG01106.hp1 HG01256.hp1 HG01258.hp2 HG01891.hp1 HG01943.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02258.hp1 HG02258.hp2 HG02615.hp2 HG02630.hp2 HG02809.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03041.hp2 HG03139.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03516.hp1 HG03579.hp1 HG04204.hp2 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA19090.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0002c0007 a0002c0009 others(7): Show a0002c0003 a0002c0007 a0002c0009 a0002c0010 a0002c0012 a0002c0018 a0002c0019 a0002c0021 a0005c0011 a0005c0031	a0002c0003t0002 a0002c0007t0002 a0002c0009t0002 others(7): Show a0002c0003t0002 a0002c0007t0002 a0002c0009t0002 a0002c0010t0002 a0002c0012t0002 a0002c0018t0002 a0002c0019t0002 a0002c0021t0002 a0005c0011t0002 a0005c0031t0002	a0002c0003t0002g0020 a0002c0003t0002g0248 a0002c0003t0002g0249 others(31): Show a0002c0003t0002g0020 a0002c0003t0002g0248 a0002c0003t0002g0249 a0002c0003t0002g0252 a0002c0003t0002g0253 a0002c0003t0002g0255 a0002c0003t0002g0256 a0002c0003t0002g0257 a0002c0003t0002g0258 a0002c0003t0002g0259 a0002c0003t0002g0260 a0002c0003t0002g0263 a0002c0003t0002g0264 a0002c0003t0002g0275 a0002c0003t0002g0276 a0002c0003t0002g0277 a0002c0007t0002g0019 a0002c0007t0002g0251 a0002c0007t0002g0254 a0002c0009t0002g0273 a0002c0009t0002g0274 a0002c0009t0002g0278 a0002c0010t0002g0250 a0002c0010t0002g0272 a0002c0010t0002g0279 a0002c0012t0002g0269 a0002c0012t0002g0270 a0002c0018t0002g0261 a0002c0019t0002g0262 a0002c0021t0002g0271 a0005c0011t0002g0266 a0005c0011t0002g0267 a0005c0011t0002g0268 a0005c0031t0002g0265	36	302	0.1192	36	c.139 others(45): Show c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC	p.Pro others(49): Show p.Pro465_Asp466insAspSerGlyAlaAlaArgAspAlaProAlaAs pPro	GNAS	ENSG00000087460.29	transcript	ENST00000371100.9	protein_coding	1/13	1945/4027	1395/3114	465/1037	INFO_REALIGN_3_PRIME	chr20	TogoVar
GOLGA6B_chr15_72649697_72674599	72662575	C C	CAGGAGGA others(14): Show CAGGAGGAGAGGCTGCGAAAGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp2 HG01884.hp2	a0024 a0024	a0024c0019 a0024c0019	a0024c0019t0006 a0024c0019t0006	a0024c0019t0006g0049 a0024c0019t0006g0049	1	333	0.0030	21	c.118 others(30): Show c.1187_1207dupGAAAGGAGGAGGAGAGGCTGC	p.Arg others(13): Show p.Arg396_Leu402dup	GOLGA6B	ENSG00000215186.7	transcript	ENST00000421285.4	protein_coding	11/18	1249/5380	1208/2082	403/693	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6D_chr15_75277835_75300530	75290704	C C	CAGGAGGA others(14): Show CAGGAGGAGAGGCTGCGAAAGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp2 HG01109.hp2	a0016 a0016	a0016c0022 a0016c0022	a0016c0022t0014 a0016c0022t0014	a0016c0022t0014g0146 a0016c0022t0014g0146	1	234	0.0043	21	c.118 others(30): Show c.1187_1207dupGAAAGGAGGAGGAGAGGCTGC	p.Arg others(13): Show p.Arg396_Leu402dup	GOLGA6D	ENSG00000140478.17	transcript	ENST00000434739.4	protein_coding	11/18	1249/3178	1208/2082	403/693	INFO_REALIGN_3_PRIME	chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345005	T T	TAGCCTCT others(14): Show TAGCCTCTCCTCCTGTTCACAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01891.hp2 HG01891.hp2	a0031 a0031	a0031c0038 a0031c0038	a0031c0038t0042 a0031c0038t0042	a0031c0038t0042g0049 a0031c0038t0042g0049	1	301	0.0033	21	c.854 others(28): Show c.854_855insGTGTGAACAGGAGGAGAGGCT	p.Leu others(34): Show p.Leu285_Cys286insCysGluGlnGluGluArgLeu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	954/4452	854/1569	285/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345068	C C	CAGCCTCT others(14): Show CAGCCTCTCCTCCTGTTCATGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01167.hp1 HG01169.hp2 HG01167.hp1 HG01169.hp2	a0020 a0020	a0020c0019 a0020c0019	a0020c0019t0001 a0020c0019t0001	a0020c0019t0001g0086 a0020c0019t0001g0090 a0020c0019t0001g0086 a0020c0019t0001g0090	2	301	0.0066	21	c.791 others(28): Show c.791_792insACATGAACAGGAGGAGAGGCT	p.Leu others(34): Show p.Leu264_Cys265insHisGluGlnGluGluArgLeu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	891/4452	791/1569	264/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345068	C C	CAGCCTCT others(35): Show CAGCCTCTCCTCCTGTTCATGTAGCCTCTCCTCCTGTTCACGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA18747.hp2 NA18747.hp2	a0035 a0035	a0035c0035 a0035c0035	a0035c0035t0001 a0035c0035t0001	a0035c0035t0001g0067 a0035c0035t0001g0067	1	301	0.0033	42	c.791 others(49): Show c.791_792insACGTGAACAGGAGGAGAGGCTACATGAACAGGAGGAGA GGCT	p.Leu others(55): Show p.Leu264_Cys265insArgGluGlnGluGluArgLeuHisGluGlnGl uGluArgLeu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	891/4452	791/1569	264/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345068	C C	CAGCCTCT others(35): Show CAGCCTCTCCTCCTGTTCATGTAGCCTCTCCTCCTGTTCATGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00280.hp1 HG00558.hp1 HG00558.hp2 others(64): Show HG00280.hp1 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01074.hp1 HG01099.hp1 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01256.hp1 HG01261.hp2 HG01358.hp1 HG01978.hp1 HG01981.hp1 HG02027.hp2 HG02040.hp1 HG02056.hp1 HG02074.hp1 HG02132.hp1 HG03098.hp1 HG03486.hp2 HG03654.hp1 HG03704.hp1 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18906.hp1 NA18941.hp2 NA18944.hp1 NA18947.hp2 NA18949.hp1 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18960.hp2 NA18964.hp1 NA18967.hp2 NA18980.hp1 NA18983.hp1 NA18985.hp2 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18999.hp1 NA19000.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19054.hp2 NA19065.hp1 NA19070.hp2 NA19079.hp2 NA19088.hp2 NA20805.hp1 NA20905.hp2	a0002 a0006 a0007 others(1): Show a0002 a0006 a0007 a0056	a0002c0002 a0002c0055 a0006c0006 others(2): Show a0002c0002 a0002c0055 a0006c0006 a0007c0008 a0056c0053	a0002c0002t0001 a0002c0002t0007 a0002c0002t0014 others(8): Show a0002c0002t0001 a0002c0002t0007 a0002c0002t0014 a0002c0002t0021 a0002c0002t0036 a0002c0002t0037 a0002c0055t0001 a0006c0006t0001 a0006c0006t0014 a0007c0008t0001 a0056c0053t0001	a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0012 others(28): Show a0002c0002t0001g0003 a0002c0002t0001g0007 a0002c0002t0001g0012 a0002c0002t0001g0026 a0002c0002t0001g0027 a0002c0002t0001g0046 a0002c0002t0001g0053 a0002c0002t0001g0057 a0002c0002t0001g0065 a0002c0002t0001g0066 a0002c0002t0001g0068 a0002c0002t0001g0070 a0002c0002t0001g0076 a0002c0002t0001g0077 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0085 a0002c0002t0001g0088 a0002c0002t0001g0092 a0002c0002t0001g0096 a0002c0002t0007g0074 a0002c0002t0014g0029 a0002c0002t0021g0089 a0002c0002t0036g0075 a0002c0002t0037g0084 a0002c0055t0001g0127 a0006c0006t0001g0006 a0006c0006t0001g0073 a0006c0006t0014g0087 a0007c0008t0001g0078 a0056c0053t0001g0063	67	301	0.2226	42	c.791 others(49): Show c.791_792insACATGAACAGGAGGAGAGGCTACATGAACAGGAGGAGA GGCT	p.Leu others(55): Show p.Leu264_Cys265insHisGluGlnGluGluArgLeuHisGluGlnGl uGluArgLeu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	891/4452	791/1569	264/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345068	C C	CAGCCTCT others(56): Show CAGCCTCTCCTCCTGTTCATGTAGCCTCTCCTCCTGTTCATGTAGCCTCT CCTCCTGTTCACGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19079.hp1 NA19079.hp1	a0057 a0057	a0057c0054 a0057c0054	a0057c0054t0001 a0057c0054t0001	a0057c0054t0001g0064 a0057c0054t0001g0064	1	301	0.0033	63	c.791 others(70): Show c.791_792insACGTGAACAGGAGGAGAGGCTACATGAACAGGAGGAGA GGCTACATGAACAGGAGGAGAGGCT	p.Leu others(76): Show p.Leu264_Cys265insArgGluGlnGluGluArgLeuHisGluGlnGl uGluArgLeuHisGluGlnGluGluArgLeu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	891/4452	791/1569	264/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345110	C C	CAGCCTCT others(119): Show CAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACACAGCCTCT CCTCCTGTTCATGTAGCCTCTCCTCCTGTTCATGTAGCCTCTCCTCCTGT ACACGTAGCCTCTCCTCCTGTTCACGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02559.hp2 HG03540.hp2 HG02559.hp2 HG03540.hp2	a0023 a0023	a0023c0025 a0023c0025	a0023c0025t0002 a0023c0025t0002	a0023c0025t0002g0038 a0023c0025t0002g0038	2	301	0.0066	126	c.749 others(133): Show c.749_750insACGTGAACAGGAGGAGAGGCTACGTGTACAGGAGGAGA GGCTACATGAACAGGAGGAGAGGCTACATGAACAGGAGGAGAGGCTGTGT GAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCT	p.Leu others(139): Show p.Leu250_Cys251insArgGluGlnGluGluArgLeuArgValGlnGl uGluArgLeuHisGluGlnGluGluArgLeuHisGluGlnGluGluArgL euCysGluGlnGluGluArgLeuArgGluGlnGluGluArgLeu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	849/4452	749/1569	250/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345110	C C	CAGCCTCT others(77): Show CAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACGTAGCCTCT CCTCCTGTTCATGTAGCCTCTCCTCCTGTTCACGT	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG04228.hp1 HG04228.hp1	a0033 a0033	a0033c0032 a0033c0032	a0033c0032t0001 a0033c0032t0001	a0033c0032t0001g0071 a0033c0032t0001g0071	1	301	0.0033	84	c.749 others(91): Show c.749_750insACGTGAACAGGAGGAGAGGCTACATGAACAGGAGGAGA GGCTACGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGAGGCT	p.Leu others(97): Show p.Leu250_Cys251insArgGluGlnGluGluArgLeuHisGluGlnGl uGluArgLeuArgGluGlnGluGluArgLeuArgGluGlnGluGluArgL eu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	849/4452	749/1569	250/522		chr15	TogoVar
GOLGA6L10_chr15_82334993_82354475	82345131	T T	TAGCCTCT others(35): Show TAGCCTCTCCTCCTGTTCACGTAGCCTCTCCTCCTGTTCACAC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG02486.hp1 HG02486.hp1	a0021 a0021	a0021c0018 a0021c0018	a0021c0018t0006 a0021c0018t0006	a0021c0018t0006g0025 a0021c0018t0006g0025	1	301	0.0033	42	c.728 others(49): Show c.728_729insGTGTGAACAGGAGGAGAGGCTACGTGAACAGGAGGAGA GGCT	p.Leu others(55): Show p.Leu243_Arg244insCysGluGlnGluGluArgLeuArgGluGlnGl uGluArgLeu	GOLGA6L10	ENSG00000278662.6	transcript	ENST00000610657.2	protein_coding	6/9	828/4452	728/1569	243/522		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129587	C C	CATCTTCT others(161): Show CATCTTCTCCTCCTGCTCCCCCATCTTCTCTTCCTGTTCCTGCATCATCT CCTCCTGCTCTCGTATCTTCTCCTCCTGCTCCCGTATCTTCTTCTCCTGC TCCCTTATCTTCTCCTCCTGCCTCCGCATCTTCTCCTCCTGTTCTTGCAT CTTCTCTTCCTGCTCCCAA	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	NA19043.hp2 NA19043.hp2	a0054 a0054	a0054c0050 a0054c0050	a0054c0050t0009 a0054c0050t0009	a0054c0050t0009g0087 a0054c0050t0009g0087	1	204	0.0049	168	c.186 others(177): Show c.1865_1866insTTGGGAGCAGGAAGAGAAGATGCAAGAACAGGAGGA GAAGATGCGGAGGCAGGAGGAGAAGATAAGGGAGCAGGAGAAGAAGATAC GGGAGCAGGAGGAGAAGATACGAGAGCAGGAGGAGATGATGCAGGAACAG GAAGAGAAGATGGGGGAGCAGGAGGAGAAGAT	p.Lys others(181): Show p.Lys621_Met622insIleTrpGluGlnGluGluLysMetGlnGluGl nGluGluLysMetArgArgGlnGluGluLysIleArgGluGlnGluLysL ysIleArgGluGlnGluGluLysIleArgGluGlnGluGluMetMetGln GluGlnGluGluLysMetGlyGluGlnGluGluLys	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1956/3822	1865/2007	622/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129782	T T	TTCCTGCT others(14): Show TTCCTGCTCACACATCTTCTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00408.hp1 HG00438.hp2 HG00738.hp1 others(17): Show HG00408.hp1 HG00438.hp2 HG00738.hp1 HG01081.hp2 HG01175.hp1 HG01192.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02132.hp1 HG02135.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG03492.hp2 NA18906.hp1 NA18974.hp1 NA18977.hp2 NA19077.hp2 NA20905.hp1	a0002 a0042 a0055 a0002 a0042 a0055	a0002c0003 a0002c0046 a0002c0048 others(2): Show a0002c0003 a0002c0046 a0002c0048 a0042c0030 a0055c0049	a0002c0003t0002 a0002c0003t0018 a0002c0046t0002 others(3): Show a0002c0003t0002 a0002c0003t0018 a0002c0046t0002 a0002c0048t0002 a0042c0030t0002 a0055c0049t0002	a0002c0003t0002g0005 a0002c0003t0002g0015 a0002c0003t0002g0016 others(11): Show a0002c0003t0002g0005 a0002c0003t0002g0015 a0002c0003t0002g0016 a0002c0003t0002g0017 a0002c0003t0002g0035 a0002c0003t0002g0040 a0002c0003t0002g0041 a0002c0003t0002g0044 a0002c0003t0002g0045 a0002c0003t0018g0039 a0002c0046t0002g0043 a0002c0048t0002g0037 a0042c0030t0002g0033 a0055c0049t0002g0038	20	204	0.0980	21	c.167 others(30): Show c.1670_1671insGGAGAAGATGTGTGAGCAGGA	p.Glu others(34): Show p.Glu557_Glu558insGluLysMetCysGluGlnGlu	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1761/3822	1670/2007	557/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23129833	T T	TCGTATCT others(14): Show TCGTATCTTCTCCTCCTGCTCC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01109.hp2 HG03225.hp2 HG03927.hp1 others(1): Show HG01109.hp2 HG03225.hp2 HG03927.hp1 HG04115.hp2	a0019 a0021 a0019 a0021	a0019c0016 a0021c0019 a0019c0016 a0021c0019	a0019c0016t0007 a0021c0019t0001 a0019c0016t0007 a0021c0019t0001	a0019c0016t0007g0084 a0019c0016t0007g0088 a0021c0019t0001g0024 a0019c0016t0007g0084 a0019c0016t0007g0088 a0021c0019t0001g0024	4	204	0.0196	21	c.159 others(30): Show c.1599_1619dupGGAGCAGGAGGAGAAGATACG	p.Arg others(34): Show p.Arg540_Glu541insGluGlnGluGluLysIleArg	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1710/3822	1619/2007	540/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23130316	T T	TATCTTCT others(35): Show TATCTTCTCCTCCTTCTCCCACATCATCTCCTCCTGCCTCCGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00741.hp1 HG02273.hp2 HG03098.hp1 others(1): Show HG00741.hp1 HG02273.hp2 HG03098.hp1 HG04199.hp1	a0023 a0058 a0064 a0023 a0058 a0064	a0023c0021 a0058c0045 a0064c0057 a0023c0021 a0058c0045 a0064c0057	a0023c0021t0004 a0023c0021t0023 a0058c0045t0007 others(1): Show a0023c0021t0004 a0023c0021t0023 a0058c0045t0007 a0064c0057t0024	a0023c0021t0004g0100 a0023c0021t0023g0098 a0058c0045t0007g0083 others(1): Show a0023c0021t0004g0100 a0023c0021t0023g0098 a0058c0045t0007g0083 a0064c0057t0024g0101	4	204	0.0196	42	c.113 others(51): Show c.1136_1137insGCGGAGGCAGGAGGAGATGATGTGGGAGAAGGAGGA GAAGAT	p.Lys others(55): Show p.Lys378_Ile379insMetArgArgGlnGluGluMetMetTrpGluLy sGluGluLys	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	8/9	1227/3822	1136/2007	379/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136585	A A	AGGATGGG others(11): Show AGGATGGGTAGGGAGGTGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG00323.hp2 HG03831.hp1 NA20905.hp1 HG00323.hp2 HG03831.hp1 NA20905.hp1	a0042 a0043 a0044 a0042 a0043 a0044	a0042c0030 a0043c0029 a0044c0031 a0042c0030 a0043c0029 a0044c0031	a0042c0030t0002 a0043c0029t0001 a0044c0031t0003 a0042c0030t0002 a0043c0029t0001 a0044c0031t0003	a0042c0030t0002g0033 a0043c0029t0001g0052 a0044c0031t0003g0053 a0042c0030t0002g0033 a0043c0029t0001g0052 a0044c0031t0003g0053	3	204	0.0147	18	c.129 others(25): Show c.129_146dupCCACCTCCCTACCCATCC	p.Pro others(29): Show p.Pro49_Met50insHisLeuProThrHisPro	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	237/3822	146/2007	49/668		chr15	TogoVar
GOLGA6L1_chr15_23122066_23141822	23136585	A A	AGGATGGG others(47): Show AGGATGGGTAGGGAGGTGGGGATGGGTAGGGAGGTGGGGATGGGTAGGGA GGTGG	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG03486.hp2 HG03540.hp2 HG03486.hp2 HG03540.hp2	a0040 a0041 a0040 a0041	a0040c0027 a0041c0028 a0040c0027 a0041c0028	a0040c0027t0001 a0041c0028t0003 a0040c0027t0001 a0041c0028t0003	a0040c0027t0001g0050 a0041c0028t0003g0051 a0040c0027t0001g0050 a0041c0028t0003g0051	2	204	0.0098	54	c.93_ others(60): Show c.93_146dupCCACCTCCCTACCCATCCCCACCTCCCTACCCATCCCCA CCTCCCTACCCATCC	p.Pro others(65): Show p.Pro49_Met50insHisLeuProThrHisProHisLeuProThrHisP roHisLeuProThrHisPro	GOLGA6L1	ENSG00000273976.2	transcript	ENST00000614055.2	protein_coding	1/9	237/3822	146/2007	49/668		chr15	TogoVar

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Search Results (Total: 1888 hits)