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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

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
CFAP61_chr20_20047532_20365698	20356926	G G	GGTGGTCA others(14): Show GGTGGTCATACTGTGAGGGGAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp1 HG02647.hp2 others(3): Show HG01891.hp1 HG02572.hp1 HG02647.hp2 HG02717.hp1 HG02895.hp2 HG02897.hp2	a0001 a0005 a0009 others(1): Show a0001 a0005 a0009 a0017	a0001c0001 a0005c0025 a0009c0014 others(1): Show a0001c0001 a0005c0025 a0009c0014 a0017c0037	a0001c0001t0005 a0005c0025t0005 a0009c0014t0007 others(1): Show a0001c0001t0005 a0005c0025t0005 a0009c0014t0007 a0017c0037t0005	a0001c0001t0005g0126 a0001c0001t0005g0129 a0001c0001t0005g0171 others(3): Show a0001c0001t0005g0126 a0001c0001t0005g0129 a0001c0001t0005g0171 a0005c0025t0005g0140 a0009c0014t0007g0006 a0017c0037t0005g0138	6	236	0.0254	21	c.351 others(40): Show c.3514-3277_3514-3276insTACTGTGAGGGGAAGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356977	T T	TGGGGAGG others(14): Show TGGGGAGGTGGTCACACTGTGA	intron_variant intron_variant	MODIFIER	NA19081.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	236	0.0042	21	c.351 others(40): Show c.3514-3193_3514-3173dupTGAGGGGAGGTGGTCACACTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357035	C C	CTGAGGGG others(14): Show CTGAGGGGAGGTGGTCATAGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00639.hp1 HG00735.hp1 others(30): Show HG00099.hp1 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01361.hp1 HG01516.hp2 HG01517.hp1 HG01993.hp1 HG02257.hp1 HG02602.hp1 HG02809.hp1 HG03130.hp1 HG03195.hp2 HG03209.hp2 HG03834.hp1 HG04199.hp1 HG04204.hp2 NA18943.hp2 NA19003.hp2 NA19005.hp1 NA19030.hp1 NA20129.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0003 others(4): Show a0001 a0002 a0003 a0006 a0008 a0011 a0026	a0001c0001 a0001c0003 a0001c0006 others(10): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0015 a0002c0002 a0002c0004 a0002c0034 a0003c0005 a0006c0011 a0008c0017 a0011c0018 a0026c0030	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0003t0004 a0001c0006t0003 a0001c0007t0002 a0001c0015t0002 a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0002t0006 a0002c0004t0001 a0002c0004t0002 a0002c0004t0006 a0002c0034t0002 a0003c0005t0002 a0006c0011t0002 a0008c0017t0002 a0011c0018t0003 a0026c0030t0002	a0001c0001t0001g0079 a0001c0001t0001g0178 a0001c0001t0002g0063 others(30): Show a0001c0001t0001g0079 a0001c0001t0001g0178 a0001c0001t0002g0063 a0001c0001t0002g0144 a0001c0001t0002g0190 a0001c0001t0002g0225 a0001c0003t0002g0112 a0001c0003t0004g0005 a0001c0003t0004g0015 a0001c0006t0003g0021 a0001c0007t0002g0222 a0001c0007t0002g0231 a0001c0007t0002g0232 a0001c0015t0002g0201 a0002c0002t0001g0041 a0002c0002t0001g0088 a0002c0002t0001g0111 a0002c0002t0002g0002 a0002c0002t0002g0027 a0002c0002t0002g0097 a0002c0002t0005g0114 a0002c0002t0005g0137 a0002c0002t0006g0013 a0002c0004t0001g0205 a0002c0004t0002g0209 a0002c0004t0006g0020 a0002c0034t0002g0034 a0003c0005t0002g0069 a0003c0005t0002g0218 a0006c0011t0002g0117 a0008c0017t0002g0121 a0011c0018t0003g0122 a0026c0030t0002g0056	33	236	0.1398	21	c.351 others(40): Show c.3514-3171_3514-3170insGGGAGGTGGTCATAGTGTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357082	G G	GGTGGTCA others(14): Show GGTGGTCATACTGTGAGGGGAA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0108 a0002c0002t0005g0108	1	236	0.0042	21	c.351 others(40): Show c.3514-3121_3514-3120insTACTGTGAGGGGAAGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357092	C C	CTGAGGGG others(14): Show CTGAGGGGAGGTGGTCACAGTG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0075 a0001c0001t0002g0075	1	236	0.0042	21	c.351 others(40): Show c.3514-3102_3514-3101insCAGTGTGAGGGGAGGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357454	G G	GTGAGTGA others(14): Show GTGAGTGAGGAGGTAGTCACAC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG04204.hp2 HG02602.hp1 HG04204.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0002c0002 a0001c0003 a0002c0002	a0001c0003t0004 a0002c0002t0001 a0001c0003t0004 a0002c0002t0001	a0001c0003t0004g0015 a0002c0002t0001g0041 a0001c0003t0004g0015 a0002c0002t0001g0041	2	236	0.0085	21	c.351 others(40): Show c.3514-2754_3514-2753insAGTGAGGAGGTAGTCACACTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357473	C C	CTGAGGGG others(14): Show CTGAGGGGAGGTGGTCACAGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(102): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00558.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG02056.hp1 HG02071.hp2 HG02109.hp1 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02723.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp1 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 HG03486.hp2 HG03540.hp2 HG03579.hp1 HG03669.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18942.hp2 NA18945.hp2 NA18951.hp1 NA18955.hp2 NA18966.hp2 NA18969.hp2 NA18971.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19070.hp1 NA19081.hp1 NA20129.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0012 a0014 a0015 a0017 a0018 a0020 a0022 a0024 a0026	a0001c0001 a0001c0003 a0001c0006 others(30): Show a0001c0001 a0001c0003 a0001c0006 a0001c0007 a0001c0012 a0001c0015 a0001c0023 a0001c0024 a0001c0039 a0001c0045 a0002c0002 a0002c0004 a0002c0009 a0002c0034 a0003c0005 a0004c0008 a0005c0013 a0005c0025 a0006c0011 a0007c0010 a0008c0017 a0008c0020 a0009c0014 a0010c0016 a0012c0019 a0014c0031 a0015c0047 a0017c0037 a0018c0036 a0020c0040 a0022c0042 a0024c0029 a0026c0030	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(41): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0003t0002 a0001c0003t0003 a0001c0003t0007 a0001c0006t0002 a0001c0006t0006 a0001c0007t0002 a0001c0012t0002 a0001c0015t0002 a0001c0023t0003 a0001c0024t0008 a0001c0039t0003 a0001c0045t0002 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0004t0002 a0002c0004t0003 a0002c0004t0006 a0002c0009t0002 a0002c0034t0002 a0003c0005t0002 a0004c0008t0002 a0004c0008t0003 a0005c0013t0002 a0005c0025t0005 a0006c0011t0002 a0007c0010t0003 a0008c0017t0002 a0008c0020t0002 a0009c0014t0007 a0010c0016t0002 a0012c0019t0003 a0014c0031t0002 a0015c0047t0002 a0017c0037t0005 a0018c0036t0003 a0020c0040t0002 a0022c0042t0003 a0024c0029t0003 a0026c0030t0002	a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 others(102): Show a0001c0001t0002g0035 a0001c0001t0002g0036 a0001c0001t0002g0037 a0001c0001t0002g0042 a0001c0001t0002g0050 a0001c0001t0002g0057 a0001c0001t0002g0061 a0001c0001t0002g0063 a0001c0001t0002g0067 a0001c0001t0002g0091 a0001c0001t0002g0144 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0161 a0001c0001t0002g0173 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0216 a0001c0001t0002g0235 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0060 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0095 a0001c0001t0003g0119 a0001c0001t0003g0127 a0001c0001t0003g0139 a0001c0001t0004g0010 a0001c0001t0006g0019 a0001c0003t0002g0112 a0001c0003t0003g0142 a0001c0003t0003g0175 a0001c0003t0007g0016 a0001c0006t0002g0224 a0001c0006t0006g0011 a0001c0007t0002g0077 a0001c0007t0002g0222 a0001c0007t0002g0231 a0001c0007t0002g0232 a0001c0012t0002g0099 a0001c0015t0002g0233 a0001c0023t0003g0054 a0001c0024t0008g0176 a0001c0039t0003g0125 a0001c0045t0002g0074 a0002c0002t0002g0002 a0002c0002t0002g0024 a0002c0002t0002g0027 a0002c0002t0002g0039 a0002c0002t0002g0045 a0002c0002t0002g0071 a0002c0002t0002g0081 a0002c0002t0002g0097 a0002c0002t0002g0103 a0002c0002t0002g0155 a0002c0002t0002g0159 a0002c0002t0002g0182 a0002c0002t0002g0191 a0002c0002t0002g0195 a0002c0002t0002g0197 a0002c0002t0002g0227 a0002c0002t0003g0066 a0002c0002t0003g0102 a0002c0002t0005g0114 a0002c0002t0005g0137 a0002c0004t0002g0087 a0002c0004t0002g0209 a0002c0004t0003g0207 a0002c0004t0006g0020 a0002c0009t0002g0104 a0002c0009t0002g0106 a0002c0034t0002g0034 a0003c0005t0002g0062 a0003c0005t0002g0068 a0003c0005t0002g0069 a0003c0005t0002g0070 a0003c0005t0002g0218 a0004c0008t0002g0166 a0004c0008t0003g0184 a0005c0013t0002g0047 a0005c0025t0005g0140 a0006c0011t0002g0117 a0007c0010t0003g0130 a0007c0010t0003g0131 a0008c0017t0002g0121 a0008c0020t0002g0123 a0009c0014t0007g0006 a0010c0016t0002g0044 a0012c0019t0003g0120 a0014c0031t0002g0043 a0015c0047t0002g0168 a0017c0037t0005g0138 a0018c0036t0003g0094 a0020c0040t0002g0160 a0022c0042t0003g0128 a0024c0029t0003g0132 a0026c0030t0002g0056	105	236	0.4449	21	c.351 others(40): Show c.3514-2719_3514-2718insGTGTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357492	C C	CTGAGGGG others(14): Show CTGAGGGGAGGTGGTCACAGTG	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0013 a0002c0002t0006g0013	1	236	0.0042	21	c.351 others(40): Show c.3514-2700_3514-2699insGTGTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357614	C C	CTGAGGAG others(14): Show CTGAGGAGAGGTGGTCATAGTG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01496.hp1 HG01884.hp1 others(7): Show HG00639.hp1 HG01496.hp1 HG01884.hp1 HG02723.hp1 HG02965.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp2 HG06807.hp1 NA19030.hp2	a0001 a0002 a0005 others(2): Show a0001 a0002 a0005 a0006 a0010	a0001c0001 a0001c0003 a0001c0015 others(4): Show a0001c0001 a0001c0003 a0001c0015 a0002c0009 a0005c0043 a0006c0011 a0010c0016	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0004 a0001c0015t0002 a0002c0009t0003 a0005c0043t0003 a0006c0011t0003 a0010c0016t0002	a0001c0001t0001g0178 a0001c0001t0003g0124 a0001c0003t0001g0202 others(7): Show a0001c0001t0001g0178 a0001c0001t0003g0124 a0001c0003t0001g0202 a0001c0003t0004g0005 a0001c0015t0002g0201 a0002c0009t0003g0107 a0005c0043t0003g0156 a0006c0011t0003g0089 a0006c0011t0003g0098 a0010c0016t0002g0165	10	236	0.0424	21	c.351 others(40): Show c.3514-2592_3514-2591insGAGAGGTGGTCATAGTGTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357669	T T	TAGTGTGA others(14): Show TAGTGTGAGGGGAGGTGGTCAC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01099.hp1 HG01496.hp1 others(11): Show HG00639.hp1 HG01099.hp1 HG01496.hp1 HG01891.hp1 HG01975.hp1 HG02451.hp2 HG02572.hp1 HG02615.hp1 HG03453.hp2 NA18943.hp2 NA18955.hp1 NA18969.hp1 NA19090.hp1 NA20129.hp1	a0001 a0002 a0005 others(3): Show a0001 a0002 a0005 a0007 a0010 a0017	a0001c0001 a0001c0003 a0001c0015 others(6): Show a0001c0001 a0001c0003 a0001c0015 a0002c0002 a0002c0004 a0005c0025 a0007c0010 a0010c0016 a0017c0037	a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 others(9): Show a0001c0001t0003 a0001c0003t0002 a0001c0003t0003 a0001c0015t0002 a0002c0002t0001 a0002c0002t0004 a0002c0002t0006 a0002c0004t0003 a0005c0025t0005 a0007c0010t0003 a0010c0016t0002 a0017c0037t0005	a0001c0001t0003g0060 a0001c0001t0003g0095 a0001c0003t0002g0112 others(11): Show a0001c0001t0003g0060 a0001c0001t0003g0095 a0001c0003t0002g0112 a0001c0003t0003g0175 a0001c0015t0002g0201 a0002c0002t0001g0143 a0002c0002t0001g0186 a0002c0002t0004g0012 a0002c0002t0006g0013 a0002c0004t0003g0207 a0005c0025t0005g0140 a0007c0010t0003g0130 a0010c0016t0002g0165 a0017c0037t0005g0138	14	236	0.0593	21	c.351 others(40): Show c.3514-2540_3514-2539insGTGTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357913	C C	CTGAGGGG others(14): Show CTGAGGGGAGGTGGTCATAGTG	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0002 a0002	a0002c0032 a0002c0032	a0002c0032t0001 a0002c0032t0001	a0002c0032t0001g0185 a0002c0032t0001g0185	1	236	0.0042	21	c.351 others(40): Show c.3514-2281_3514-2280insTAGTGTGAGGGGAGGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357932	C C	CTGAGGGG others(14): Show CTGAGGGGAGGTGGTCATAGTG	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0008 a0008	a0008c0020 a0008c0020	a0008c0020t0002 a0008c0020t0002	a0008c0020t0002g0123 a0008c0020t0002g0123	1	236	0.0042	21	c.351 others(40): Show c.3514-2272_3514-2271insGAGGTGGTCATAGTGTGAGGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20358033	C C	CTGAGGGG others(14): Show CTGAGGGGAGGTGGTCATAGTG	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19003.hp1 HG02717.hp2 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0001 a0002c0009t0001 a0002c0002t0001 a0002c0009t0001	a0002c0002t0001g0174 a0002c0009t0001g0105 a0002c0002t0001g0174 a0002c0009t0001g0105	2	236	0.0085	21	c.351 others(40): Show c.3514-2172_3514-2171insGGAGGTGGTCATAGTGTGAGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP70_chr10_73248762_73363864	73270346	A A	AAAAGGCT others(14): Show AAAAGGCTCTCCCTTCCCCAGT	intron_variant intron_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0095 a0001c0001t0001g0095	1	220	0.0046	21	c.313 others(38): Show c.3136-652_3136-632dupACTGGGGAAGGGAGAGCCTTT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	25/27			chr10	TogoVar
CFAP77_chr9_132405211_132578319	132529507	T T	TAAAAAAA others(14): Show TAAAAAAAAAAAATTTAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG03516.hp2 HG01884.hp1 HG03516.hp2	a0001 a0007 a0001 a0007	a0001c0004 a0007c0015 a0001c0004 a0007c0015	a0001c0004t0002 a0007c0015t0002 a0001c0004t0002 a0007c0015t0002	a0001c0004t0002g0178 a0007c0015t0002g0214 a0001c0004t0002g0178 a0007c0015t0002g0214	2	322	0.0062	21	c.525 others(38): Show c.525-8082_525-8081insTTTAAAAAAAAAAAAAAAAAA	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	3/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP77_chr9_132405211_132578319	132559346	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00609.hp2 HG00639.hp1 others(20): Show HG00544.hp2 HG00609.hp2 HG00639.hp1 HG02027.hp2 HG02257.hp1 HG02257.hp2 HG02523.hp1 HG02622.hp2 HG02647.hp1 HG02809.hp1 HG02896.hp2 HG03486.hp1 HG04199.hp2 NA18906.hp2 NA18952.hp2 NA18980.hp1 NA18990.hp2 NA19000.hp2 NA19030.hp2 NA19063.hp1 NA19087.hp2 NA19091.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0002 a0002c0003t0001 a0002c0003t0002	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0045 others(20): Show a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0045 a0001c0001t0001g0115 a0001c0001t0001g0179 a0001c0001t0001g0184 a0001c0001t0001g0193 a0001c0001t0001g0202 a0001c0001t0001g0206 a0001c0001t0001g0215 a0001c0001t0001g0251 a0001c0001t0001g0253 a0001c0001t0001g0277 a0001c0001t0001g0293 a0001c0001t0001g0307 a0001c0002t0001g0029 a0001c0002t0001g0071 a0001c0002t0001g0169 a0001c0005t0002g0159 a0002c0003t0001g0238 a0002c0003t0001g0308 a0002c0003t0002g0040 a0002c0003t0002g0055	23	322	0.0714	21	c.733 others(40): Show c.733-13022_733-13021insAAAAAAAAAAAAAAAAAAAAA	CFAP77	ENSG00000188523.9	transcript	ENST00000393216.3	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP91_chr3_119698022_119772102	119738332	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01123.hp1 HG01255.hp1 others(7): Show HG00741.hp2 HG01123.hp1 HG01255.hp1 HG01361.hp1 HG01496.hp1 HG03239.hp2 HG03834.hp1 NA18946.hp2 NA18991.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0009t0001 a0001c0001t0001 a0001c0009t0001	a0001c0001t0001g0177 a0001c0001t0001g0209 a0001c0001t0001g0211 others(7): Show a0001c0001t0001g0177 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0230 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0274 a0001c0001t0001g0304 a0001c0009t0001g0106	10	386	0.0259	21	c.146 others(38): Show c.1461+864_1461+884dupTTTTTTTTTTTTTTTTTTTTT	CFAP91	ENSG00000183833.16	transcript	ENST00000273390.9	protein_coding	11/17		INFO_REALIGN_3_PRIME	chr3	TogoVar
CFAP95_chr9_69815817_69911227	69841197	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18977.hp2 HG02818.hp1 NA18977.hp2	a0001 a0007 a0001 a0007	a0001c0001 a0007c0009 a0001c0001 a0007c0009	a0001c0001t0001 a0007c0009t0001 a0001c0001t0001 a0007c0009t0001	a0001c0001t0001g0228 a0007c0009t0001g0327 a0001c0001t0001g0228 a0007c0009t0001g0327	2	380	0.0053	21	c.153 others(38): Show c.153-3320_153-3319insATATATATATATATATATATA	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5			chr9	TogoVar
CFAP95_chr9_69815817_69911227	69843514	T T	TCCCCCCC others(14): Show TCCCCCCCCCTCCTCCTCCCCC	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01255.hp1 NA18975.hp2 HG00639.hp2 HG01255.hp1 NA18975.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0010 a0001c0001 a0005c0010	a0001c0001t0001 a0005c0010t0001 a0001c0001t0001 a0005c0010t0001	a0001c0001t0001g0069 a0001c0001t0001g0079 a0005c0010t0001g0022 a0001c0001t0001g0069 a0001c0001t0001g0079 a0005c0010t0001g0022	3	380	0.0079	21	c.153 others(38): Show c.153-1001_153-1000insCCCCCCCTCCTCCTCCCCCCC	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr9	TogoVar
CFAP97D1_chr17_43775435_43792620	43786955	C C	CATTATTA others(14): Show CATTATTATTATTATTATTATT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03579.hp2 NA18522.hp2 HG03579.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0021 a0001c0002t0021	a0001c0002t0021g0005 a0001c0002t0021g0005	2	402	0.0050	21	c.25 others(32): Show c.2580_*2600dupATTATTATTATTATTATTATT	CFAP97D1	ENSG00000231256.8	transcript	ENST00000449302.8	protein_coding	6/6	3090	INFO_REALIGN_3_PRIME	chr17	TogoVar
CFDP1_chr16_75288710_75438503	75297195	T T	TGTGTGTG others(14): Show TGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18966.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0263 a0001c0001t0001g0263	1	314	0.0032	21	c.810 others(38): Show c.810-3154_810-3153insCACACACACACACACACACAC	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	6/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349678	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA18974.hp2 HG00642.hp1 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0217 a0001c0001t0004g0110 a0001c0001t0001g0217 a0001c0001t0004g0110	2	314	0.0064	21	c.651 others(40): Show c.651-44497_651-44496insATATATATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349680	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02970.hp2 HG02165.hp1 HG02970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0226 a0001c0001t0001g0121 a0001c0001t0001g0226	2	314	0.0064	21	c.651 others(40): Show c.651-44499_651-44498insATATATATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349682	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	314	0.0032	21	c.651 others(40): Show c.651-44501_651-44500insATATATATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349684	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA19007.hp2 HG02559.hp2 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0309 a0001c0001t0001g0012 a0001c0001t0001g0309	2	314	0.0064	21	c.651 others(40): Show c.651-44503_651-44502insATATATATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349686	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 NA21309.hp1 HG01070.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0222 a0001c0002t0001g0115 a0001c0001t0001g0222 a0001c0002t0001g0115	2	314	0.0064	21	c.651 others(40): Show c.651-44505_651-44504insATATATATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75349690	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18747.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	314	0.0032	21	c.651 others(40): Show c.651-44509_651-44508insATATATATATATATATATATA	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFH_chr1_196647043_196752504	196658407	A A	ATTTTTTT others(14): Show ATTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp2 NA19009.hp2 NA18946.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0181 a0001c0001t0001g0252 a0001c0001t0001g0181 a0001c0001t0001g0252	2	308	0.0065	21	c.58+ others(36): Show c.58+6234_58+6254dupTTTTTTTTTTTTTTTTTTTTT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CFI_chr4_109735695_109806999	109752962	T T	TTATATAA others(14): Show TTATATAAATAAATATTTATAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00733.hp1 HG00735.hp2 others(77): Show HG00323.hp1 HG00733.hp1 HG00735.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp2 HG01175.hp2 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01261.hp2 HG01346.hp1 HG01928.hp2 HG01975.hp2 HG01978.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02055.hp1 HG02080.hp1 HG02148.hp1 HG02165.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02300.hp2 HG02647.hp1 HG02717.hp2 HG02738.hp2 HG03041.hp1 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03710.hp1 HG03927.hp1 NA18747.hp1 NA18941.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp2 NA18950.hp1 NA18956.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18966.hp2 NA18969.hp2 NA18972.hp1 NA18978.hp2 NA18984.hp2 NA18991.hp2 NA18999.hp2 NA19000.hp1 NA19002.hp1 NA19003.hp1 NA19012.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19072.hp1 NA19082.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0007 a0011	a0001c0001 a0001c0002 a0001c0006 others(6): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0004c0005 a0005c0007 a0006c0014 a0007c0010 a0011c0009	a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 others(9): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0004 a0001c0006t0005 a0001c0008t0001 a0001c0008t0002 a0004c0005t0001 a0005c0007t0001 a0006c0014t0001 a0007c0010t0001 a0011c0009t0001	a0001c0001t0001g0009 a0001c0001t0001g0215 a0001c0002t0001g0008 others(77): Show a0001c0001t0001g0009 a0001c0001t0001g0215 a0001c0002t0001g0008 a0001c0002t0001g0022 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0040 a0001c0002t0001g0057 a0001c0002t0001g0059 a0001c0002t0001g0060 a0001c0002t0001g0061 a0001c0002t0001g0063 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0068 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0140 a0001c0002t0001g0141 a0001c0002t0001g0142 a0001c0002t0001g0143 a0001c0002t0001g0144 a0001c0002t0001g0145 a0001c0002t0001g0147 a0001c0002t0001g0173 a0001c0002t0001g0178 a0001c0002t0001g0179 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0271 a0001c0002t0001g0295 a0001c0002t0002g0012 a0001c0002t0004g0005 a0001c0002t0004g0006 a0001c0002t0004g0007 a0001c0006t0005g0041 a0001c0006t0005g0042 a0001c0008t0001g0293 a0001c0008t0002g0269 a0004c0005t0001g0101 a0004c0005t0001g0102 a0004c0005t0001g0103 a0004c0005t0001g0109 a0005c0007t0001g0069 a0005c0007t0001g0070 a0006c0014t0001g0064 a0007c0010t0001g0062 a0011c0009t0001g0106	80	354	0.2260	21	c.905 others(36): Show c.905-460_905-459insTTATAAATATTTATTTATATA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753005	T T	TTATATAA others(14): Show TTATATAAATAAATATTTATAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02559.hp2 NA18906.hp1 others(3): Show HG00558.hp1 HG02559.hp2 NA18906.hp1 NA18959.hp2 NA18980.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0174 a0001c0001t0001g0275 a0001c0001t0001g0276 others(3): Show a0001c0001t0001g0174 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0002t0001g0075 a0001c0002t0001g0272 a0001c0002t0001g0273	6	354	0.0170	21	c.905 others(36): Show c.905-503_905-502insTTATAAATATTTATTTATATA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753048	T T	TTATATAA others(14): Show TTATATAAACAAATATTTATAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01069.hp2 HG01106.hp2 others(8): Show HG00323.hp1 HG01069.hp2 HG01106.hp2 HG01175.hp2 HG02148.hp1 HG03710.hp1 HG03927.hp1 NA18978.hp2 NA19012.hp1 NA19066.hp2 NA20300.hp2	a0001 a0006 a0011 a0001 a0006 a0011	a0001c0002 a0006c0014 a0011c0009 a0001c0002 a0006c0014 a0011c0009	a0001c0002t0001 a0006c0014t0001 a0011c0009t0001 a0001c0002t0001 a0006c0014t0001 a0011c0009t0001	a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0065 others(8): Show a0001c0002t0001g0057 a0001c0002t0001g0061 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0086 a0001c0002t0001g0107 a0001c0002t0001g0108 a0001c0002t0001g0145 a0001c0002t0001g0147 a0006c0014t0001g0064 a0011c0009t0001g0106	11	354	0.0311	21	c.905 others(36): Show c.905-546_905-545insTTATAAATATTTGTTTATATA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753048	T T	TTATATAA others(14): Show TTATATAAATAAATATTTATAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 NA18906.hp1 NA19240.hp1 HG02559.hp2 NA18906.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0174 a0001c0001t0001g0275 a0001c0001t0001g0276	3	354	0.0085	21	c.905 others(36): Show c.905-546_905-545insTTATAAATATTTATTTATATA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753216	T T	TTATATAA others(14): Show TTATATAAACAAATATTTATAA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01243.hp1 HG02809.hp1 others(2): Show HG01074.hp2 HG01243.hp1 HG02809.hp1 HG03239.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0001 a0001c0002t0003	a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0126 others(2): Show a0001c0002t0001g0119 a0001c0002t0001g0120 a0001c0002t0001g0126 a0001c0002t0001g0217 a0001c0002t0003g0296	5	354	0.0141	21	c.905 others(36): Show c.905-714_905-713insTTATAAATATTTGTTTATATA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFI_chr4_109735695_109806999	109753216	T T	TTATATAA others(14): Show TTATATAAATAAATATTTATAA	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02155.hp1 HG02258.hp2 others(13): Show HG02109.hp2 HG02155.hp1 HG02258.hp2 HG02486.hp1 HG02615.hp2 HG02818.hp2 HG02896.hp1 HG02922.hp1 HG03225.hp1 HG03486.hp2 HG03831.hp1 NA18612.hp2 NA18747.hp2 NA18950.hp2 NA18982.hp2 NA18999.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0003t0001	a0001c0001t0001g0018 a0001c0001t0001g0098 a0001c0001t0001g0312 others(13): Show a0001c0001t0001g0018 a0001c0001t0001g0098 a0001c0001t0001g0312 a0001c0001t0001g0319 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0002g0182 a0001c0001t0002g0346 a0001c0001t0003g0337 a0001c0001t0003g0338 a0001c0001t0003g0348 a0002c0003t0001g0259 a0002c0003t0001g0308 a0002c0003t0001g0314 a0002c0003t0001g0320 a0002c0003t0001g0324	16	354	0.0452	21	c.905 others(36): Show c.905-714_905-713insTTATAAATATTTATTTATATA	CFI	ENSG00000205403.15	transcript	ENST00000394634.7	protein_coding	7/12			chr4	TogoVar
CFLAR_chr2_201111164_201181687	201114047	T T	TATATATA others(14): Show TATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0134 a0001c0001t0134	a0001c0001t0134g0051 a0001c0001t0134g0051	1	234	0.0043	21	c.-25 others(32): Show c.-2572_-2571insATATATATATATATATATATA	CFLAR	ENSG00000003402.21	transcript	ENST00000309955.8	protein_coding		2116		chr2	TogoVar
CGAS_chr6_73418711_73457297	73453568	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG03669.hp1 NA18956.hp2 others(4): Show HG01175.hp1 HG03669.hp1 NA18956.hp2 NA18969.hp1 NA18978.hp1 NA19009.hp2 NA19066.hp2	a0002 a0002	a0002c0001 a0002c0005 a0002c0008 a0002c0001 a0002c0005 a0002c0008	a0002c0001t0001 a0002c0001t0065 a0002c0005t0008 others(2): Show a0002c0001t0001 a0002c0001t0065 a0002c0005t0008 a0002c0005t0012 a0002c0008t0003	a0002c0001t0001g0162 a0002c0001t0001g0238 a0002c0001t0065g0257 others(4): Show a0002c0001t0001g0162 a0002c0001t0001g0238 a0002c0001t0065g0257 a0002c0005t0008g0269 a0002c0005t0012g0027 a0002c0005t0012g0237 a0002c0008t0003g0115	7	410	0.0171	21	c.-13 others(32): Show c.-1388_-1387insAAAAAAAAAAAAAAAAAAAAA	CGAS	ENSG00000164430.17	transcript	ENST00000370315.4	protein_coding		1272		chr6	TogoVar
CGNL1_chr15_57371505_57555717	57394101	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	294	0.0034	21	c.-16 others(40): Show c.-16+17537_-16+17538insTTTTTTTTTTTTTTTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGNL1_chr15_57371505_57555717	57442182	G G	GAAAAAAA others(14): Show GAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0163 a0001c0001t0004g0163	1	294	0.0034	21	c.169 others(38): Show c.1698-190_1698-170dupAAAAAAAAAAAAAAAAAAAAA	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CGREF1_chr2_27095594_27124128	27116923	C C	CTCTCTCT others(14): Show CTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG03516.hp2 NA18747.hp2 HG02148.hp1 HG03516.hp2 NA18747.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0091 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0091 a0001c0002t0002g0131 a0001c0002t0002g0132	3	352	0.0085	21	c.-12 others(38): Show c.-12+1922_-12+1923insAGAGAGAGAGAGAGAGAGAGA	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CGREF1_chr2_27095594_27124128	27116924	T T	TCTCTCTC others(14): Show TCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 NA18986.hp2 HG01109.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0272 a0001c0001t0001g0273	2	352	0.0057	21	c.-12 others(38): Show c.-12+1921_-12+1922insGAGAGAGAGAGAGAGAGAGAG	CGREF1	ENSG00000138028.17	transcript	ENST00000402394.6	protein_coding	1/5			chr2	TogoVar
CHAF1A_chr19_4397640_4448397	4408461	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG03225.hp1 NA18747.hp1 HG02717.hp1 HG03225.hp1 NA18747.hp1	a0001 a0003 a0005 a0001 a0003 a0005	a0001c0001 a0003c0004 a0005c0006 a0001c0001 a0003c0004 a0005c0006	a0001c0001t0001 a0003c0004t0002 a0005c0006t0002 a0001c0001t0001 a0003c0004t0002 a0005c0006t0002	a0001c0001t0001g0220 a0003c0004t0002g0334 a0005c0006t0002g0360 a0001c0001t0001g0220 a0003c0004t0002g0334 a0005c0006t0002g0360	3	384	0.0078	21	c.104 others(36): Show c.104-432_104-412dupTTTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4411644	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01071.hp1 HG01074.hp2 others(12): Show HG00738.hp1 HG01071.hp1 HG01074.hp2 HG01123.hp1 HG01346.hp1 HG01358.hp1 HG01934.hp2 HG02074.hp2 HG02886.hp2 HG03490.hp1 HG03710.hp2 HG04115.hp2 NA19058.hp1 NA19060.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0003 a0002c0002t0002 a0001c0001t0001 a0001c0003t0003 a0002c0002t0002	a0001c0001t0001g0026 a0001c0003t0003g0279 a0002c0002t0002g0018 others(12): Show a0001c0001t0001g0026 a0001c0003t0003g0279 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0025 a0002c0002t0002g0053 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0094 a0002c0002t0002g0104	15	384	0.0391	21	c.960 others(38): Show c.960+1886_960+1906dupTTTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	3/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHAF1B_chr21_36380392_36424015	36423208	T T	TGGGGGGA others(14): Show TGGGGGGACCTTATCTGTGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp2 HG03471.hp1 others(1): Show HG02896.hp1 HG02897.hp2 HG03471.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0022 a0001c0001t0025 others(1): Show a0001c0001t0010 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026	a0001c0001t0010g0042 a0001c0001t0022g0328 a0001c0001t0025g0052 others(1): Show a0001c0001t0010g0042 a0001c0001t0022g0328 a0001c0001t0025g0052 a0001c0001t0026g0051	4	346	0.0116	21	c.68 others(32): Show c.6842_*6843insGGGGGGACCTTATCTGTGGGA	CHAF1B	ENSG00000159259.8	transcript	ENST00000314103.6	protein_coding		4194		chr21	TogoVar
CHCHD6_chr3_126699240_126965420	126823141	T T	TCCTGGGC others(14): Show TCCTGGGCAACAAGTAATCCTC	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02615.hp2 HG03579.hp1 HG02280.hp2 HG02615.hp2 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0088 a0001c0001t0001g0113 a0001c0001t0001g0114	3	216	0.0139	21	c.412 others(40): Show c.412-29499_412-29498insAACAAGTAATCCTCCCTGGGC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126824560	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG02015.hp1 others(1): Show HG00408.hp1 HG00438.hp1 HG02015.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0208 a0001c0001t0001g0209 others(1): Show a0001c0001t0001g0110 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210	4	216	0.0185	21	c.412 others(40): Show c.412-28086_412-28066dupAAAAAAAAAAAAAAAAAAAAA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126856361	G G	GGATCTCT others(14): Show GGATCTCTGGGTTGGCCATTCC	intron_variant intron_variant	MODIFIER	NA18960.hp2 NA18960.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	216	0.0046	21	c.495 others(38): Show c.495+3632_495+3652dupGATCTCTGGGTTGGCCATTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863533	T T	TCCTCCTC others(14): Show TCCTCCTCCTCCACCATCACCA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02965.hp1 HG03579.hp1 HG02280.hp2 HG02965.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114	3	216	0.0139	21	c.495 others(40): Show c.495+10835_495+10855dupCACCATCACCACCTCCTCCTC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126863879	C C	CCACCTCC others(14): Show CCACCTCCTCCTCCACCATCAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	216	0.0046	21	c.495 others(40): Show c.495+11163_495+11183dupACCATCAACACCTCCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHCHD6_chr3_126699240_126965420	126864931	A A	ACCTCCTC others(14): Show ACCTCCTCCTCCACCATCATCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01346.hp2 others(13): Show HG00639.hp1 HG01109.hp1 HG01346.hp2 HG02145.hp2 HG02559.hp1 HG02886.hp2 HG02896.hp1 HG02965.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03471.hp2 HG03579.hp2 NA18522.hp2 NA18906.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 others(13): Show a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097	16	216	0.0741	21	c.495 others(40): Show c.495+12210_495+12230dupTCCACCATCATCTCCTCCTCC	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1L_chr1_147237684_147300762	147299000	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03654.hp1 HG03942.hp2 HG03654.hp1 HG03942.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0027 a0002c0002t0001g0141 a0002c0002t0001g0027 a0002c0002t0001g0141	2	418	0.0048	21	c.34 others(32): Show c.3491_*3492insTTTTTTTTTTTTTTTTTTTTT	CHD1L	ENSG00000131778.20	transcript	ENST00000369258.8	protein_coding		3239		chr1	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)