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	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
C4orf19_chr4_37448925_37598510	37585521	A A	ATGTTGAG others(22): Show ATGTTGAGGGAGGGGAGGGGAGAGGAGAGG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG03139.hp1 HG02976.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0184 a0001c0001t0027g0278 a0001c0001t0027g0184 a0001c0001t0027g0278	2	354	0.0057	29	c.-22 others(46): Show c.-22-3316_-22-3288dupGAGGGGAGGGGAGAGGAGAGGTGTTGAG G	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585554	T T	TGAGGGAG others(22): Show TGAGGGAGGGGAGGGGAGAGGAGAGACATC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0038 a0001c0001t0038	a0001c0001t0038g0160 a0001c0001t0038g0160	1	354	0.0028	29	c.-22 others(46): Show c.-22-3288_-22-3287insGAGGGGAGGGGAGAGGAGAGACATCGAG G	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585561	G G	GAGGAGGG others(22): Show GAGGAGGGGAGATCAGAGGTGTTGAGGGAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0053 a0001c0001t0013g0053	1	354	0.0028	29	c.-22 others(46): Show c.-22-3285_-22-3284insAGGAGGGGAGATCAGAGGTGTTGAGGGA A	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3			chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585563	A A	AGAGGGGA others(22): Show AGAGGGGAGAGGAGAGGTGTTGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02559.hp2 HG02809.hp1 HG02258.hp1 HG02559.hp2 HG02809.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0025 a0002c0004t0024 a0001c0001t0025 a0002c0004t0024	a0001c0001t0025g0117 a0002c0004t0024g0049 a0002c0004t0024g0051 a0001c0001t0025g0117 a0002c0004t0024g0049 a0002c0004t0024g0051	3	354	0.0085	29	c.-22 others(46): Show c.-22-3258_-22-3230dupGAGGGGAGGGGAGAGGAGAGGTGTTGAG G	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37585583	T T	TGAGGGAG others(22): Show TGAGGGAGGGGAGGGGAGAGGAGAGATATC	intron_variant intron_variant	MODIFIER	HG02572.hp1 NA20300.hp2 HG02572.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0163 a0001c0001t0020g0237 a0001c0001t0020g0163 a0001c0001t0020g0237	2	354	0.0057	29	c.-22 others(46): Show c.-22-3239_-22-3238insATATCGAGGGAGGGGAGGGGAGAGGAGA G	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf19_chr4_37448925_37598510	37596736	A A	ATATATAT others(22): Show ATATATATATATATATATATATTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp2 HG02738.hp2 HG00639.hp2 HG02738.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0043 a0001c0001t0003g0072 a0001c0001t0003g0043 a0001c0001t0003g0072	2	354	0.0057	29	c.57 others(40): Show c.5736_*5737insTATATATATATATATATATATTTTTTTTT	C4orf19	ENSG00000154274.15	transcript	ENST00000381980.9	protein_coding		3227		chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0226 a0001c0001t0004g0226	1	358	0.0028	29	c.715 others(46): Show c.715-1621_715-1620insATATATATATATATATATATATATATAT T	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C4orf47_chr4_185421254_185454826	185443342	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0107 a0001c0001t0004g0107	1	358	0.0028	29	c.715 others(46): Show c.715-1621_715-1620insATATATATATATATATATATATATATTT T	C4orf47	ENSG00000205129.9	transcript	ENST00000378850.5	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr4	TogoVar
C6orf136_chr6_30642133_30658207	30653616	T T	TCTTGGCC others(22): Show TCTTGGCCTCCCAAAGTGCTAGGATCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(398): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01257.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.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 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 HG02647.hp1 HG02647.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 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 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 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 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18989.hp1 NA18989.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.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 NA19030.hp1 NA19030.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19062.hp1 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp1 NA19072.hp2 NA19076.hp1 NA19076.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0006 others(5): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0002c0003 a0003c0004 a0004c0005 a0005c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0002t0001 a0001c0002t0004 a0001c0006t0001 a0001c0008t0001 a0002c0003t0001 a0003c0004t0001 a0004c0005t0001 a0005c0009t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(106): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0002g0047 a0001c0001t0003g0003 a0001c0001t0005g0096 a0001c0001t0006g0001 a0001c0002t0001g0014 a0001c0002t0001g0022 a0001c0002t0001g0024 a0001c0002t0001g0034 a0001c0002t0001g0068 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0004g0088 a0001c0006t0001g0002 a0001c0006t0001g0016 a0001c0008t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0016 a0002c0003t0001g0067 a0002c0003t0001g0083 a0003c0004t0001g0007 a0003c0004t0001g0037 a0003c0004t0001g0098 a0004c0005t0001g0007 a0004c0005t0001g0025 a0004c0005t0001g0036 a0004c0005t0001g0037 a0005c0009t0001g0049	401	409	0.9804	29	c.70 others(38): Show c.701_*702insCTTGGCCTCCCAAAGTGCTAGGATCCTGC	C6orf136	ENSG00000204564.12	transcript	ENST00000651131.1	protein_coding		410		chr6	TogoVar
C6orf136_chr6_30642133_30658207	30653616	T T	TCTTGGCC others(22): Show TCTTGGCCTCCCGAAGTGCTAGGATCCTGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0011 a0001c0007t0001g0011	1	409	0.0024	29	c.70 others(38): Show c.701_*702insCTTGGCCTCCCGAAGTGCTAGGATCCTGC	C6orf136	ENSG00000204564.12	transcript	ENST00000651131.1	protein_coding		410		chr6	TogoVar
C7_chr5_40904497_40989643	40978873	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG03654.hp2 HG03669.hp1 others(2): Show HG00423.hp2 HG03654.hp2 HG03669.hp1 HG06807.hp2 NA18981.hp2	a0002 a0003 a0005 a0002 a0003 a0005	a0002c0002 a0003c0003 a0003c0023 others(1): Show a0002c0002 a0003c0003 a0003c0023 a0005c0005	a0002c0002t0001 a0003c0003t0001 a0003c0023t0001 others(1): Show a0002c0002t0001 a0003c0003t0001 a0003c0023t0001 a0005c0005t0001	a0002c0002t0001g0113 a0003c0003t0001g0327 a0003c0003t0001g0354 others(2): Show a0002c0002t0001g0113 a0003c0003t0001g0327 a0003c0003t0001g0354 a0003c0023t0001g0339 a0005c0005t0001g0080	5	380	0.0132	29	c.216 others(46): Show c.2166-828_2166-827insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	C7	ENSG00000112936.21	transcript	ENST00000313164.10	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
C7orf33_chr7_148585766_148620860	148616894	A A	ACCCTCCC others(22): Show ACCCTCCCTCAACACACGGGAATTACAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00735.hp2 HG01099.hp2 others(29): Show HG00280.hp1 HG00735.hp2 HG01099.hp2 HG01255.hp1 HG01346.hp1 HG01943.hp1 HG01978.hp1 HG02055.hp1 HG02083.hp2 HG02257.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02818.hp1 HG02886.hp2 HG02895.hp2 HG02897.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03195.hp1 HG03516.hp1 HG03927.hp2 NA18956.hp1 NA18962.hp2 NA18971.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp1	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0004 a0003c0009 others(1): Show a0001c0001 a0001c0004 a0003c0009 a0004c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0004t0004 a0003c0009t0001 a0004c0005t0001	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0109 others(28): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0109 a0001c0001t0001g0134 a0001c0001t0001g0232 a0001c0001t0001g0251 a0001c0001t0001g0290 a0001c0001t0001g0297 a0001c0001t0001g0323 a0001c0001t0001g0326 a0001c0001t0001g0331 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0001g0348 a0001c0001t0001g0372 a0001c0001t0001g0374 a0001c0001t0001g0377 a0001c0001t0001g0378 a0001c0001t0001g0394 a0001c0001t0001g0408 a0001c0001t0001g0429 a0001c0001t0002g0118 a0001c0001t0003g0396 a0001c0001t0004g0018 a0001c0001t0004g0020 a0001c0001t0004g0376 a0001c0001t0004g0425 a0001c0004t0004g0351 a0001c0004t0004g0352 a0003c0009t0001g0096 a0004c0005t0001g0386	32	444	0.0721	29	c.14 others(40): Show c.1493_*1494insCCCTCCCTCAACACACGGGAATTACAGAT	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding		1035		chr7	TogoVar
C7orf33_chr7_148585766_148620860	148616964	C C	CACACGGG others(22): Show CACACGGGAATTACAGATCCCTCCCTCAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0388 a0001c0001t0001g0388	1	444	0.0023	29	c.15 others(40): Show c.1563_*1564insACACGGGAATTACAGATCCCTCCCTCAAA	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding		1105		chr7	TogoVar
C7orf33_chr7_148585766_148620860	148616992	A A	ACACACGG others(22): Show ACACACGGGAATTACAGATCCCTCCCTCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0074	1	444	0.0023	29	c.15 others(40): Show c.1591_*1592insCACACGGGAATTACAGATCCCTCCCTCAG	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding		1133		chr7	TogoVar
C7orf33_chr7_148585766_148620860	148617047	G G	GCAGCACA others(22): Show GCAGCACACGGGAATTACAGATCCCTCCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02135.hp1 HG02615.hp1 others(4): Show HG02109.hp1 HG02135.hp1 HG02615.hp1 HG03098.hp1 HG03139.hp2 HG03209.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 others(4): Show a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0019 a0001c0001t0002g0077 a0001c0001t0002g0097 a0001c0001t0002g0145	7	444	0.0158	29	c.16 others(40): Show c.1646_*1647insCAGCACACGGGAATTACAGATCCCTCCCT	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding		1188		chr7	TogoVar
C7orf33_chr7_148585766_148620860	148617067	A A	ATCCCTCC others(22): Show ATCCCTCCCTCAGCACACGGGAATTACAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp2 HG01099.hp1 others(5): Show HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01515.hp2 HG01517.hp1 HG02155.hp2 HG03017.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0034 others(3): Show a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0034 a0001c0001t0001g0295 a0001c0001t0001g0310 a0001c0001t0001g0407	8	444	0.0180	29	c.16 others(40): Show c.1666_*1667insTCCCTCCCTCAGCACACGGGAATTACAGG	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding		1208		chr7	TogoVar
C7orf33_chr7_148585766_148620860	148617076	T T	TCAACACA others(22): Show TCAACACACGGGAATTACAGATCCCTCCCG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0124	1	444	0.0023	29	c.16 others(40): Show c.1675_*1676insCAACACACGGGAATTACAGATCCCTCCCG	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding		1217		chr7	TogoVar
C7orf33_chr7_148585766_148620860	148617113	C C	CGGGAATT others(22): Show CGGGAATTACAGATCCCTCCCTCAGCACAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp1 HG00280.hp2 others(164): Show HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00423.hp2 HG00544.hp2 HG00558.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp1 HG00735.hp1 HG01070.hp1 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp2 HG01346.hp2 HG01361.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02071.hp1 HG02074.hp2 HG02080.hp2 HG02155.hp1 HG02155.hp2 HG02273.hp2 HG02300.hp1 HG02300.hp2 HG02559.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG03017.hp1 HG03041.hp1 HG03239.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18948.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp2 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18973.hp1 NA18973.hp2 NA18974.hp2 NA18975.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18989.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18999.hp2 NA19002.hp1 NA19005.hp2 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19058.hp2 NA19059.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19072.hp1 NA19072.hp2 NA19075.hp1 NA19075.hp2 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19082.hp1 NA19083.hp2 NA19087.hp1 NA20752.hp1 NA20752.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0006 a0001c0001 a0003c0003 a0006c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0003c0003t0001 a0006c0006t0001	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 others(158): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0061 a0001c0001t0001g0068 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0135 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0153 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0200 a0001c0001t0001g0205 a0001c0001t0001g0208 a0001c0001t0001g0211 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0225 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0248 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0270 a0001c0001t0001g0272 a0001c0001t0001g0274 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0322 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0338 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0367 a0001c0001t0001g0389 a0001c0001t0001g0390 a0001c0001t0001g0399 a0001c0001t0001g0402 a0001c0001t0001g0403 a0001c0001t0001g0404 a0001c0001t0001g0405 a0001c0001t0001g0406 a0001c0001t0001g0407 a0001c0001t0001g0409 a0001c0001t0001g0410 a0001c0001t0001g0411 a0001c0001t0001g0412 a0001c0001t0001g0415 a0001c0001t0001g0419 a0001c0001t0001g0420 a0001c0001t0001g0421 a0001c0001t0001g0423 a0001c0001t0001g0428 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0007g0391 a0001c0001t0007g0392 a0001c0001t0008g0273 a0003c0003t0001g0089 a0003c0003t0001g0092 a0006c0006t0001g0206	167	444	0.3761	29	c.17 others(40): Show c.1712_*1713insGGGAATTACAGATCCCTCCCTCAGCACAT	C7orf33	ENSG00000170279.3	transcript	ENST00000307003.3	protein_coding		1254		chr7	TogoVar
C7orf50_chr7_992006_1143247	1006584	A A	AGGGAAAG others(22): Show AGGGAAAGAGCGCACGACGGCCACAGCGCG	intron_variant intron_variant	MODIFIER	NA18944.hp1 NA18959.hp1 NA18964.hp2 NA18944.hp1 NA18959.hp1 NA18964.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109	3	326	0.0092	29	c.323 others(46): Show c.323+3337_323+3365dupCGCGCTGTGGCCGTCGTGCGCTCTTTCC C	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	3/4			chr7	TogoVar
C7orf50_chr7_992006_1143247	1041404	C C	CGGGGAAG others(22): Show CGGGGAAGGGGACCTGGGGTCCGCGCTGCA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00642.hp2 HG00738.hp2 others(25): Show HG00558.hp2 HG00642.hp2 HG00738.hp2 HG01074.hp1 HG01099.hp2 HG01123.hp1 HG01123.hp2 HG01255.hp1 HG01361.hp2 HG01928.hp2 HG01943.hp2 HG01993.hp2 HG02080.hp2 HG02559.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03195.hp2 HG03486.hp1 HG04204.hp2 NA18952.hp2 NA18973.hp2 NA18986.hp1 NA19000.hp1 NA19240.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 others(6): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0015 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0002c0002t0003 a0002c0002t0018 a0003c0004t0002	a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0220 others(25): Show a0001c0001t0002g0208 a0001c0001t0002g0211 a0001c0001t0002g0220 a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0228 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0256 a0001c0001t0002g0262 a0001c0001t0002g0278 a0001c0001t0002g0282 a0001c0001t0002g0283 a0001c0001t0002g0285 a0001c0001t0005g0260 a0001c0001t0015g0225 a0001c0001t0027g0193 a0001c0001t0029g0224 a0001c0001t0030g0326 a0002c0002t0003g0315 a0002c0002t0003g0316 a0002c0002t0003g0317 a0002c0002t0003g0322 a0002c0002t0003g0323 a0002c0002t0018g0202 a0002c0002t0018g0203 a0003c0004t0002g0230	28	326	0.0859	29	c.130 others(48): Show c.130-31262_130-31261insTGCAGCGCGGACCCCAGGTCCCCTTC CCC	C7orf50	ENSG00000146540.15	transcript	ENST00000397098.8	protein_coding	2/4			chr7	TogoVar
C8orf34_chr8_68325955_68824023	68794506	T T	TATATATA others(22): Show TATATATATATATATATATATATATATACA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0104 a0002c0004t0001g0104	1	128	0.0078	29	c.154 others(48): Show c.1549+6970_1549+6971insATATATATATATATATATATATATAT ACA	C8orf34	ENSG00000165084.16	transcript	ENST00000518698.6	protein_coding	12/13			chr8	TogoVar
C8orf58_chr8_22594599_22609142	22596658	A A	AAGTGGCC others(22): Show AAGTGGCCCAAAGGAGCATCTGGTACAACC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0013 a0001c0002t0003g0013	1	332	0.0030	29	c.-30 others(40): Show c.-3063_-3062insAGTGGCCCAAAGGAGCATCTGGTACAACC	C8orf58	ENSG00000241852.11	transcript	ENST00000289989.10	protein_coding		2940		chr8	TogoVar
C9orf152_chr9_110194561_110213159	110198893	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0085 a0001c0001t0001g0085	1	466	0.0022	29	c.20 others(40): Show c.2054_*2055insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C9orf152	ENSG00000188959.10	transcript	ENST00000400613.5	protein_coding		667		chr9	TogoVar
CA2_chr8_85459007_85486493	85484129	T T	TCACTCTG others(22): Show TCACTCTGTGGCCCAGGCTGGACTACAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0053 a0001c0002t0001g0053	1	336	0.0030	29	c.33 others(40): Show c.3340_*3341insCACTCTGTGGCCCAGGCTGGACTACAATA	CA2	ENSG00000104267.10	transcript	ENST00000285379.10	protein_coding		2637		chr8	TogoVar
CA5A_chr16_87883013_87941529	87919544	T T	TCTGGGGG others(22): Show TCTGGGGGAGCACTCACAGGAAAGCAGAGC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	400	0.0025	29	c.340 others(46): Show c.340+7175_340+7203dupGCTCTGCTTTCCTGTGAGTGCTCCCCCA G	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding	2/6			chr16	TogoVar
CA5A_chr16_87883013_87941529	87937799	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0039 a0001c0001t0001g0039	1	400	0.0025	29	c.-13 others(40): Show c.-1350_-1349insAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1271		chr16	TogoVar
CA5A_chr16_87883013_87941529	87937802	T T	TCTTTCTT others(22): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03195.hp2 NA18522.hp2 HG03195.hp2 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0040 a0002c0005t0001g0017 a0001c0001t0001g0040 a0002c0005t0001g0017	2	400	0.0050	29	c.-13 others(40): Show c.-1353_-1352insGAAAGAAAGAAAGAAAGAAAGAAAGAAAG	CA5A	ENSG00000174990.8	transcript	ENST00000649794.3	protein_coding		1274		chr16	TogoVar
CA8_chr8_60180412_60286400	60190957	T T	TATATATA others(22): Show TATATATATATATATATATATATATATAAC	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0019 a0001c0002t0019	a0001c0002t0019g0086 a0001c0002t0019g0086	1	344	0.0029	29	c.36 others(44): Show c.36-973_*36-972insGTTATATATATATATATATATATATATAT	CA8	ENSG00000178538.10	transcript	ENST00000317995.5	protein_coding	8/8			chr8	TogoVar
CAB39L_chr13_49303650_49449064	49346120	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATC	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01884.hp1 HG02698.hp2 others(3): Show HG01106.hp1 HG01884.hp1 HG02698.hp2 HG02723.hp1 HG02818.hp1 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0002t0001	a0001c0001t0001g0111 a0001c0001t0002g0127 a0001c0001t0002g0311 others(3): Show a0001c0001t0001g0111 a0001c0001t0002g0127 a0001c0001t0002g0311 a0001c0001t0004g0133 a0001c0002t0001g0119 a0001c0002t0001g0322	6	324	0.0185	29	c.565 others(46): Show c.565-1883_565-1882insGATATATATATATATATATATATATATA T	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	7/10			chr13	TogoVar
CAB39L_chr13_49303650_49449064	49441226	T T	TATATATA others(22): Show TATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0137 a0001c0002t0001g0137	1	324	0.0031	29	c.-24 others(48): Show c.-246+2759_-246+2760insTATATATATATATATATATATATATA TAT	CAB39L	ENSG00000102547.19	transcript	ENST00000409308.6	protein_coding	1/10			chr13	TogoVar
CAB39_chr2_230707842_230826075	230782813	C C	CTTTCTTT others(22): Show CTTTCTTTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0017 a0001c0001t0009g0017	1	342	0.0029	29	c.115 others(46): Show c.115-8056_115-8055insCTTTCTTTTTTTTTTTTTTTTTTTTTTT T	CAB39	ENSG00000135932.12	transcript	ENST00000258418.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr2	TogoVar
CABCOCO1_chr10_61657929_61771766	61680521	T T	TATTATAT others(22): Show TATTATATGTTATATTATGTTATATATAAC	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01943.hp2 HG03491.hp2 others(1): Show HG00741.hp1 HG01943.hp2 HG03491.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 others(1): Show a0001c0001t0003g0267 a0001c0001t0003g0268 a0001c0001t0003g0269 a0001c0001t0003g0270	4	374	0.0107	29	c.165 others(44): Show c.165-619_165-591dupTATATGTTATATTATGTTATATATAACAT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABCOCO1_chr10_61657929_61771766	61680594	T T	TTATACAT others(22): Show TTATACATGTATAACATGTTATACATAACA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0287 a0001c0001t0003g0287	1	374	0.0027	29	c.165 others(44): Show c.165-539_165-511dupATAACATGTTATACATAACATATACATGT	CABCOCO1	ENSG00000183346.9	transcript	ENST00000648843.3	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr10	TogoVar
CABP5_chr19_48024383_48049079	48028497	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp1 HG04204.hp1 NA18949.hp1 others(1): Show HG03491.hp1 HG04204.hp1 NA18949.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0018 a0003c0004t0012 a0003c0004t0033 others(1): Show a0001c0001t0018 a0003c0004t0012 a0003c0004t0033 a0003c0004t0067	a0001c0001t0018g0089 a0003c0004t0012g0046 a0003c0004t0033g0221 others(1): Show a0001c0001t0018g0089 a0003c0004t0012g0046 a0003c0004t0033g0221 a0003c0004t0067g0217	4	376	0.0106	29	c.20 others(40): Show c.2059_*2060insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CABP5	ENSG00000105507.3	transcript	ENST00000293255.3	protein_coding		885		chr19	TogoVar
CACHD1_chr1_64465129_64698053	64519695	T T	TGATGTTT others(22): Show TGATGTTTTAGTTAGTCTTATGACGAGCAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(76): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp2 HG01433.hp1 HG01515.hp1 HG01515.hp2 HG01928.hp1 HG01928.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02486.hp1 HG02559.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02895.hp2 HG02897.hp2 HG03195.hp1 HG03195.hp2 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03654.hp1 HG03942.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18948.hp1 NA18948.hp2 NA18955.hp1 NA18962.hp1 NA18962.hp2 NA19002.hp1 NA19043.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19070.hp1 NA19070.hp2 NA19240.hp1 NA20300.hp2 NA20805.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0002c0011 a0003c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0018 a0001c0002t0001 a0001c0002t0003 a0001c0002t0004 a0001c0002t0006 a0001c0002t0009 a0001c0003t0001 a0001c0003t0004 a0001c0008t0001 a0002c0011t0002 a0003c0010t0001	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 others(76): Show a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0002g0165 a0001c0001t0003g0028 a0001c0001t0003g0064 a0001c0001t0003g0089 a0001c0001t0003g0092 a0001c0001t0003g0099 a0001c0001t0003g0107 a0001c0001t0003g0155 a0001c0001t0004g0057 a0001c0001t0006g0065 a0001c0001t0006g0067 a0001c0001t0006g0068 a0001c0001t0006g0070 a0001c0001t0006g0075 a0001c0001t0009g0093 a0001c0001t0018g0101 a0001c0002t0001g0018 a0001c0002t0001g0023 a0001c0002t0001g0031 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0096 a0001c0002t0001g0102 a0001c0002t0003g0063 a0001c0002t0004g0030 a0001c0002t0006g0069 a0001c0002t0009g0098 a0001c0003t0001g0034 a0001c0003t0001g0051 a0001c0003t0001g0052 a0001c0003t0001g0053 a0001c0003t0001g0054 a0001c0003t0001g0061 a0001c0003t0001g0077 a0001c0003t0001g0084 a0001c0003t0001g0106 a0001c0003t0004g0146 a0001c0003t0004g0147 a0001c0008t0001g0090 a0002c0011t0002g0036 a0003c0010t0001g0088	79	166	0.4759	29	c.199 others(48): Show c.199-30898_199-30870dupGATGTTTTAGTTAGTCTTATGACGAG CAC	CACHD1	ENSG00000158966.16	transcript	ENST00000651257.2	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr1	TogoVar
CACNA1A_chr19_13201442_13511479	13255697	C C	CTTCCTTC others(22): Show CTTCCTTCCCTCCTTCCCTCCCTCCCTCCT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03225.hp2 NA20300.hp2 HG02486.hp1 HG03225.hp2 NA20300.hp2	a0001 a0017 a0001 a0017	a0001c0016 a0017c0127 a0001c0016 a0017c0127	a0001c0016t0004 a0017c0127t0001 a0001c0016t0004 a0017c0127t0001	a0001c0016t0004g0047 a0001c0016t0004g0074 a0017c0127t0001g0007 a0001c0016t0004g0047 a0001c0016t0004g0074 a0017c0127t0001g0007	3	218	0.0138	29	c.459 others(46): Show c.4591-439_4591-438insAGGAGGGAGGGAGGGAAGGAGGGAAGGA A	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	28/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310487	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp2 HG02486.hp1 HG02717.hp2	a0003 a0017 a0003 a0017	a0003c0073 a0017c0127 a0003c0073 a0017c0127	a0003c0073t0042 a0017c0127t0001 a0003c0073t0042 a0017c0127t0001	a0003c0073t0042g0026 a0017c0127t0001g0007 a0003c0073t0042g0026 a0017c0127t0001g0007	2	218	0.0092	29	c.166 others(48): Show c.1669-1960_1669-1959insATATATATATATATATATATATATAT ATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310489	A A	AAATATAT others(22): Show AAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0008 a0001c0006t0008	a0001c0006t0008g0148 a0001c0006t0008g0148	1	218	0.0046	29	c.166 others(48): Show c.1669-1962_1669-1961insATATATATATATATATATATATATAT ATT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13310489	A A	ATATATAT others(22): Show ATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0021 a0021	a0021c0090 a0021c0090	a0021c0090t0007 a0021c0090t0007	a0021c0090t0007g0162 a0021c0090t0007g0162	1	218	0.0046	29	c.166 others(48): Show c.1669-1962_1669-1961insATATATATATATATATATATATATAT ATA	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	12/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13433460	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0005 a0005	a0005c0102 a0005c0102	a0005c0102t0003 a0005c0102t0003	a0005c0102t0003g0122 a0005c0102t0003g0122	1	218	0.0046	29	c.539 others(48): Show c.539+19415_539+19416insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	3/46			chr19	TogoVar
CACNA1A_chr19_13201442_13511479	13464543	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0204 a0001c0005t0008g0204	1	218	0.0046	29	c.294 others(46): Show c.294-9332_294-9331insAAAAAAAAAAAAAAAAAAAAAAAAAAAA A	CACNA1A	ENSG00000141837.22	transcript	ENST00000360228.11	protein_coding	1/46			chr19	TogoVar
CACNA1D_chr3_53489611_53818733	53682365	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG02129.hp1 HG00621.hp2 HG02129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0002 a0001c0003t0001 a0001c0003t0002	a0001c0003t0001g0167 a0001c0003t0002g0089 a0001c0003t0001g0167 a0001c0003t0002g0089	2	210	0.0095	29	c.122 others(48): Show c.1220+8552_1220+8580dupAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CACNA1D	ENSG00000157388.20	transcript	ENST00000288139.11	protein_coding	8/48		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA1S_chr1_201034512_201117426	201111922	T T	TCCTCCTC others(22): Show TCCTCCTCCTCTTTCCTCCTCCTCCCCCAC	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0022 a0022	a0022c0041 a0022c0041	a0022c0041t0001 a0022c0041t0001	a0022c0041t0001g0044 a0022c0041t0001g0044	1	314	0.0032	29	c.152 others(44): Show c.152+265_152+266insGTGGGGGAGGAGGAGGAAAGAGGAGGAGG	CACNA1S	ENSG00000081248.12	transcript	ENST00000362061.4	protein_coding	1/43			chr1	TogoVar
CACNA2D1_chr7_81941444_82448777	82060071	C C	CGTGTATA others(22): Show CGTGTATAAATATGTAACAAACATATTTAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01433.hp1 HG02109.hp2 others(1): Show HG01243.hp1 HG01433.hp1 HG02109.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0009 a0001c0002t0001 a0001c0001t0001 a0001c0001t0009 a0001c0002t0001	a0001c0001t0001g0077 a0001c0001t0009g0065 a0001c0001t0009g0080 others(1): Show a0001c0001t0001g0077 a0001c0001t0009g0065 a0001c0001t0009g0080 a0001c0002t0001g0063	4	144	0.0278	29	c.879 others(44): Show c.879+356_879+357insATAAATATGTTTGTTACATATTTATACAC	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	10/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82137707	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03195.hp1 HG02451.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0003g0013 a0001c0002t0001g0014 a0001c0001t0003g0013 a0001c0002t0001g0014	2	144	0.0139	29	c.355 others(46): Show c.355-1032_355-1031insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	4/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82297072	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0055 a0001c0002t0001g0055	1	144	0.0069	29	c.294 others(48): Show c.294+38062_294+38063insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	3/38			chr7	TogoVar
CACNA2D1_chr7_81941444_82448777	82385655	G G	GTTTTGTT others(22): Show GTTTTGTTTTGTTGTTTCTTGTTGTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01169.hp1 HG01243.hp2 others(4): Show HG01167.hp1 HG01169.hp1 HG01243.hp2 HG02027.hp2 NA18952.hp2 NA18995.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0008 a0001c0001 a0001c0008	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0008 a0001c0001t0022 a0001c0008t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0004g0044 others(4): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0004g0044 a0001c0001t0006g0112 a0001c0001t0008g0043 a0001c0001t0022g0117 a0001c0008t0001g0004	7	144	0.0486	29	c.96- others(46): Show c.96-36007_96-36006insAAAAAACAACAAGAAACAACAAAACAAA A	CACNA2D1	ENSG00000153956.17	transcript	ENST00000356860.8	protein_coding	1/38			chr7	TogoVar
CACNA2D3_chr3_54117552_55079557	54763733	A A	ATGTGTAT others(22): Show ATGTGTATATATGTACATATATATACATAT	intron_variant intron_variant	MODIFIER	HG01258.hp1 NA19030.hp2 HG01258.hp1 NA19030.hp2	a0001 a0001	a0001c0004 a0001c0016 a0001c0004 a0001c0016	a0001c0004t0001 a0001c0016t0005 a0001c0004t0001 a0001c0016t0005	a0001c0004t0001g0050 a0001c0016t0005g0116 a0001c0004t0001g0050 a0001c0016t0005g0116	2	118	0.0170	29	c.124 others(46): Show c.1247-472_1247-471insACATATATATACATATTGTGTATATATG T	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	12/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNA2D3_chr3_54117552_55079557	54809311	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 NA19068.hp2 NA20752.hp2 HG00423.hp2 NA19068.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0011 a0001c0019 a0001c0002 a0001c0011 a0001c0019	a0001c0002t0001 a0001c0011t0001 a0001c0019t0001 a0001c0002t0001 a0001c0011t0001 a0001c0019t0001	a0001c0002t0001g0115 a0001c0011t0001g0099 a0001c0019t0001g0075 a0001c0002t0001g0115 a0001c0011t0001g0099 a0001c0019t0001g0075	3	118	0.0254	29	c.138 others(48): Show c.1381-7524_1381-7523insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	CACNA2D3	ENSG00000157445.16	transcript	ENST00000474759.6	protein_coding	13/37		INFO_REALIGN_3_PRIME	chr3	TogoVar
CACNB2_chr10_18135424_18548557	18464418	T T	TAAAAAAA others(22): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG04199.hp2 NA18985.hp2 HG00423.hp1 HG04199.hp2 NA18985.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0038 a0001c0002t0005g0057 a0001c0002t0005g0118 a0001c0002t0005g0038 a0001c0002t0005g0057 a0001c0002t0005g0118	3	200	0.0150	29	c.334 others(48): Show c.334-33915_334-33914insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	CACNB2	ENSG00000165995.24	transcript	ENST00000324631.13	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar

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