Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CFAP46_chr10_132803392_132947570	132824100	GTGATGTG others(12): Show GTGATGTGTGCTGTGTGCGC	G G	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0037 a0001c0001t0002g0037	1	246	0.0041	-19	c.711 others(38): Show c.7118-9205_7118-9187delGCGCACACAGCACACATCA	CFAP46	ENSG00000171811.14	transcript	ENST00000368586.10	protein_coding	50/57			chr10	TogoVar
CFAP47_chrX_35914734_36390317	36083313	GTACTTAT others(12): Show GTACTTATATATTACATATA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0011 a0011	a0011c0054 a0011c0054	a0011c0054t0001 a0011c0054t0001	a0011c0054t0001g0201 a0011c0054t0001g0201	1	216	0.0046	-19	c.469 others(38): Show c.4692-1989_4692-1971delTACATATATACTTATATAT	CFAP47	ENSG00000165164.14	transcript	ENST00000378653.8	protein_coding	29/63		INFO_REALIGN_3_PRIME	chrX	TogoVar
CFAP52_chr17_9571642_9648447	9636192	AAAGAAAG others(12): Show AAAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00621.hp1 HG02083.hp1 others(7): Show HG00323.hp2 HG00621.hp1 HG02083.hp1 NA18747.hp1 NA18951.hp1 NA18972.hp2 NA18977.hp2 NA19054.hp2 NA19079.hp1 NA19082.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0003 a0001c0002t0001g0111 a0001c0002t0001g0120 others(7): Show a0001c0002t0001g0003 a0001c0002t0001g0111 a0001c0002t0001g0120 a0001c0002t0001g0122 a0001c0002t0001g0238 a0001c0002t0001g0239 a0001c0002t0001g0240 a0001c0002t0001g0288 a0001c0002t0001g0299 a0001c0002t0001g0311	10	316	0.0317	-19	c.147 others(36): Show c.1472+639_1472+657delGAAAGAAAGAAAGAAAGAA	CFAP52	ENSG00000166596.15	transcript	ENST00000352665.10	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
CFAP54_chr12_96484577_96880555	96825444	TTATATTA others(12): Show TTATATTATATATAATATAA	T T	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0032 a0032	a0032c0070 a0032c0070	a0032c0070t0001 a0032c0070t0001	a0032c0070t0001g0244 a0032c0070t0001g0244	1	268	0.0037	-19	c.909 others(38): Show c.9097-3556_9097-3538delATATAATATATTATATATA	CFAP54	ENSG00000188596.11	transcript	ENST00000524981.9	protein_coding	65/67		INFO_REALIGN_3_PRIME	chr12	TogoVar
CFAP58_chr10_104348833_104460102	104392185	GCACAGAT others(12): Show GCACAGATGGGCTATTTAAC	G G	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00558.hp2 HG01109.hp1 others(43): Show HG00438.hp1 HG00558.hp2 HG01109.hp1 HG01433.hp1 HG01884.hp2 HG02040.hp2 HG02056.hp1 HG02129.hp1 HG02257.hp2 HG02280.hp1 HG02559.hp1 HG02615.hp1 HG02622.hp2 HG02630.hp2 HG02683.hp2 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp1 HG03490.hp2 HG03579.hp2 HG03688.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp1 NA18906.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18961.hp1 NA18963.hp1 NA18970.hp2 NA18972.hp1 NA18981.hp2 NA18985.hp1 NA18986.hp2 NA19003.hp1 NA19062.hp2 NA19070.hp2 NA19082.hp2 NA19088.hp2 NA19240.hp1	a0001 a0004 a0006 others(1): Show a0001 a0004 a0006 a0016	a0001c0001 a0001c0003 a0001c0011 others(3): Show a0001c0001 a0001c0003 a0001c0011 a0004c0009 a0006c0015 a0016c0013	a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 others(4): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0002 a0001c0011t0001 a0004c0009t0002 a0006c0015t0002 a0016c0013t0002	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(43): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0067 a0001c0001t0001g0077 a0001c0001t0001g0218 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0289 a0001c0003t0001g0153 a0001c0003t0001g0294 a0001c0003t0001g0302 a0001c0003t0002g0011 a0001c0003t0002g0053 a0001c0003t0002g0103 a0001c0003t0002g0105 a0001c0003t0002g0122 a0001c0003t0002g0125 a0001c0003t0002g0137 a0001c0003t0002g0140 a0001c0003t0002g0145 a0001c0003t0002g0146 a0001c0003t0002g0156 a0001c0003t0002g0175 a0001c0003t0002g0176 a0001c0003t0002g0187 a0001c0003t0002g0191 a0001c0003t0002g0193 a0001c0003t0002g0195 a0001c0003t0002g0213 a0001c0003t0002g0226 a0001c0003t0002g0229 a0001c0003t0002g0244 a0001c0003t0002g0281 a0001c0003t0002g0291 a0001c0003t0002g0292 a0001c0011t0001g0262 a0004c0009t0002g0303 a0004c0009t0002g0304 a0006c0015t0002g0171 a0016c0013t0002g0138	46	308	0.1494	-19	c.136 others(34): Show c.1366-43_1366-25delGATGGGCTATTTAACCACA	CFAP58	ENSG00000120051.15	transcript	ENST00000369704.8	protein_coding	9/17		INFO_REALIGN_3_PRIME	chr10	TogoVar
CFAP61_chr20_20047532_20365698	20049026	TTTATTTT others(12): Show TTTATTTTTTTTGGCCATTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00423.hp1 others(74): Show HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00741.hp1 HG01123.hp2 HG01257.hp1 HG01261.hp2 HG01361.hp2 HG01496.hp1 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01943.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01993.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02293.hp1 HG02300.hp1 HG02572.hp1 HG02615.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02717.hp1 HG02723.hp2 HG02809.hp2 HG02896.hp1 HG02970.hp1 HG02970.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03834.hp1 NA18522.hp1 NA18522.hp2 NA18947.hp1 NA18947.hp2 NA18951.hp1 NA18955.hp1 NA18964.hp2 NA18966.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18981.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19043.hp1 NA19064.hp1 NA19070.hp2 NA19081.hp1 NA19090.hp1 NA20905.hp1	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0008 a0010 a0012 a0013 a0015 a0017 a0020	a0001c0001 a0001c0003 a0001c0006 others(19): Show a0001c0001 a0001c0003 a0001c0006 a0001c0012 a0001c0024 a0001c0026 a0001c0027 a0002c0002 a0002c0022 a0002c0032 a0004c0008 a0005c0013 a0005c0025 a0005c0043 a0008c0017 a0008c0020 a0010c0016 a0012c0019 a0013c0021 a0015c0047 a0017c0037 a0020c0040	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(30): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0003t0003 a0001c0006t0001 a0001c0006t0003 a0001c0012t0002 a0001c0024t0008 a0001c0026t0001 a0001c0027t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0022t0002 a0002c0032t0001 a0004c0008t0001 a0004c0008t0002 a0004c0008t0003 a0005c0013t0002 a0005c0013t0003 a0005c0025t0005 a0005c0043t0003 a0008c0017t0002 a0008c0020t0002 a0010c0016t0002 a0012c0019t0003 a0013c0021t0003 a0015c0047t0002 a0017c0037t0005 a0020c0040t0002	a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0162 others(74): Show a0001c0001t0001g0154 a0001c0001t0001g0157 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0183 a0001c0001t0001g0187 a0001c0001t0002g0144 a0001c0001t0002g0145 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0002g0148 a0001c0001t0002g0158 a0001c0001t0002g0161 a0001c0001t0002g0173 a0001c0001t0002g0180 a0001c0001t0002g0181 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0003g0052 a0001c0001t0003g0053 a0001c0001t0003g0119 a0001c0001t0003g0139 a0001c0001t0005g0171 a0001c0003t0001g0164 a0001c0003t0003g0175 a0001c0006t0001g0167 a0001c0006t0003g0021 a0001c0012t0002g0172 a0001c0024t0008g0176 a0001c0026t0001g0141 a0001c0027t0001g0170 a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0136 a0002c0002t0001g0143 a0002c0002t0001g0149 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0152 a0002c0002t0001g0153 a0002c0002t0001g0174 a0002c0002t0001g0179 a0002c0002t0001g0186 a0002c0002t0001g0189 a0002c0002t0001g0229 a0002c0002t0002g0024 a0002c0002t0002g0155 a0002c0002t0002g0159 a0002c0002t0002g0182 a0002c0002t0002g0191 a0002c0002t0003g0101 a0002c0002t0003g0102 a0002c0002t0003g0118 a0002c0002t0005g0137 a0002c0022t0002g0049 a0002c0032t0001g0185 a0004c0008t0001g0135 a0004c0008t0002g0166 a0004c0008t0003g0184 a0005c0013t0002g0047 a0005c0013t0003g0048 a0005c0025t0005g0140 a0005c0043t0003g0156 a0008c0017t0002g0121 a0008c0020t0002g0123 a0010c0016t0002g0165 a0012c0019t0003g0120 a0013c0021t0003g0046 a0015c0047t0002g0168 a0017c0037t0005g0138 a0020c0040t0002g0160	77	236	0.3263	-19	c.-36 others(30): Show c.-3601_-3583delTTATTTTTTTTGGCCATTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding		3505		chr20	TogoVar
CFAP61_chr20_20047532_20365698	20072091	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG02723.hp2 HG01169.hp2 HG02723.hp2	a0011 a0012 a0011 a0012	a0011c0018 a0012c0019 a0011c0018 a0012c0019	a0011c0018t0003 a0012c0019t0003 a0011c0018t0003 a0012c0019t0003	a0011c0018t0003g0122 a0012c0019t0003g0120 a0011c0018t0003g0122 a0012c0019t0003g0120	2	236	0.0085	-19	c.294 others(36): Show c.294+1110_294+1128delTTTTTTTTTTTTTTTTTTT	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	3/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20205808	TTTTGTTG others(12): Show TTTTGTTGTTACAAAAAACC	T T	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0006 a0001c0012t0006	a0001c0012t0006g0009 a0001c0012t0006g0009	1	236	0.0042	-19	c.193 others(38): Show c.1932+5922_1932+5940delAACCTTTGTTGTTACAAAA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	17/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356018	GAGAGGGG others(12): Show GAGAGGGGAGGTGACCACAC	G G	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0202 a0001c0003t0001g0202	1	236	0.0042	-19	c.351 others(38): Show c.3514-4189_3514-4171delAGGGGAGGTGACCACACAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356392	GTGAGGGG others(12): Show GTGAGGGGAGGTGGTCACAC	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0115 a0002c0002t0001g0115	1	236	0.0042	-19	c.351 others(38): Show c.3514-3780_3514-3762delCTGAGGGGAGGTGGTCACA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356491	GTGAGGGG others(12): Show GTGAGGGGAGATGGTCACAC	G G	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0079 a0001c0001t0001g0079	1	236	0.0042	-19	c.351 others(38): Show c.3514-3709_3514-3691delATGGTCACACTGAGGGGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356531	GTGAGGGG others(12): Show GTGAGGGGAGGTGGTCACAC	G G	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00639.hp2 others(39): Show HG00323.hp1 HG00423.hp2 HG00639.hp2 HG00738.hp1 HG00741.hp1 HG01071.hp1 HG01123.hp2 HG01168.hp1 HG01192.hp1 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01993.hp1 HG01993.hp2 HG02071.hp1 HG02080.hp1 HG02293.hp2 HG02300.hp2 HG02602.hp2 HG03225.hp1 HG03239.hp1 HG03490.hp2 HG03669.hp1 HG03942.hp2 NA18942.hp1 NA18945.hp1 NA18951.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18981.hp1 NA19005.hp2 NA19081.hp2 NA20129.hp2 NA20905.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0016 a0021	a0001c0001 a0001c0003 a0001c0006 others(8): Show a0001c0001 a0001c0003 a0001c0006 a0001c0026 a0002c0002 a0002c0004 a0002c0035 a0003c0005 a0003c0046 a0016c0033 a0021c0041	a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 others(10): Show a0001c0001t0001 a0001c0001t0004 a0001c0003t0001 a0001c0006t0001 a0001c0026t0001 a0002c0002t0001 a0002c0002t0004 a0002c0004t0001 a0002c0035t0001 a0003c0005t0001 a0003c0046t0001 a0016c0033t0001 a0021c0041t0001	a0001c0001t0001g0028 a0001c0001t0001g0162 a0001c0001t0001g0163 others(39): Show a0001c0001t0001g0028 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0169 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0236 a0001c0001t0004g0014 a0001c0003t0001g0031 a0001c0003t0001g0073 a0001c0003t0001g0076 a0001c0003t0001g0164 a0001c0003t0001g0196 a0001c0003t0001g0199 a0001c0003t0001g0211 a0001c0003t0001g0214 a0001c0003t0001g0221 a0001c0006t0001g0220 a0001c0026t0001g0141 a0002c0002t0001g0029 a0002c0002t0001g0032 a0002c0002t0001g0033 a0002c0002t0001g0051 a0002c0002t0001g0064 a0002c0002t0001g0088 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0115 a0002c0002t0001g0150 a0002c0002t0001g0179 a0002c0002t0001g0189 a0002c0002t0001g0230 a0002c0002t0004g0001 a0002c0004t0001g0025 a0002c0004t0001g0205 a0002c0035t0001g0204 a0003c0005t0001g0217 a0003c0046t0001g0059 a0016c0033t0001g0026 a0021c0041t0001g0210	42	236	0.1780	-19	c.351 others(38): Show c.3514-3662_3514-3644delCACTGAGGGGAGGTGGTCA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356614	GGGAGGTG others(12): Show GGGAGGTGGTCACACTGAGA	G G	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0007 a0009c0014t0007	a0009c0014t0007g0006 a0009c0014t0007g0006	1	236	0.0042	-19	c.351 others(38): Show c.3514-3577_3514-3559delAGGAGGTGGTCACACTGAG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20356976	CTGGGGAG others(12): Show CTGGGGAGGTGGTCACACTG	C C	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG02145.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0022 a0002c0002t0001g0023	2	236	0.0085	-19	c.351 others(38): Show c.3514-3231_3514-3213delGGGAGGTGGTCACACTGTG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357334	GTGAGGGG others(12): Show GTGAGGGGAAGTGGTCACAC	G G	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02572.hp1 HG01891.hp1 HG02572.hp1	a0005 a0017 a0005 a0017	a0005c0025 a0017c0037 a0005c0025 a0017c0037	a0005c0025t0005 a0017c0037t0005 a0005c0025t0005 a0017c0037t0005	a0005c0025t0005g0140 a0017c0037t0005g0138 a0005c0025t0005g0140 a0017c0037t0005g0138	2	236	0.0085	-19	c.351 others(38): Show c.3514-2867_3514-2849delAGTGGTCACACTGAGGGGA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20357894	GTGAGGGG others(12): Show GTGAGGGGAGGTGGTCACAC	G G	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02970.hp2 HG02145.hp2 HG02970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0022 a0002c0002t0001g0023 a0002c0002t0001g0022 a0002c0002t0001g0023	2	236	0.0085	-19	c.351 others(38): Show c.3514-2290_3514-2272delGAGGTGGTCACACTGAGGG	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP61_chr20_20047532_20365698	20358162	GGTGGTCA others(12): Show GGTGGTCACACTGAGGGGAA	G G	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0002 a0001c0007t0002	a0001c0007t0002g0084 a0001c0007t0002g0084	1	236	0.0042	-19	c.351 others(38): Show c.3514-2028_3514-2010delGTGGTCACACTGAGGGGAA	CFAP61	ENSG00000089101.19	transcript	ENST00000245957.10	protein_coding	26/26		INFO_REALIGN_3_PRIME	chr20	TogoVar
CFAP65_chr2_218997846_219046516	219043949	ACACACAC others(12): Show ACACACACACACACACACAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0029 a0029	a0029c0033 a0029c0033	a0029c0033t0002 a0029c0033t0002	a0029c0033t0002g0090 a0029c0033t0002g0090	1	322	0.0031	-19	c.-25 others(30): Show c.-2529_-2511delCTGTGTGTGTGTGTGTGTG	CFAP65	ENSG00000181378.14	transcript	ENST00000341552.10	protein_coding		2434		chr2	TogoVar
CFAP69_chr7_90240174_90316063	90264105	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00735.hp1 others(21): Show HG00140.hp1 HG00323.hp2 HG00735.hp1 HG01123.hp2 HG01167.hp2 HG01256.hp1 HG01358.hp1 HG02083.hp1 HG02132.hp1 HG02257.hp2 HG02486.hp1 HG02895.hp2 HG03017.hp2 HG03139.hp2 HG03516.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG03927.hp2 HG04228.hp1 NA18957.hp1 NA18961.hp2 NA18968.hp1 NA20752.hp1	a0002 a0009 a0002 a0009	a0002c0001 a0009c0017 a0002c0001 a0009c0017	a0002c0001t0001 a0009c0017t0001 a0002c0001t0001 a0009c0017t0001	a0002c0001t0001g0004 a0002c0001t0001g0028 a0002c0001t0001g0035 others(20): Show a0002c0001t0001g0004 a0002c0001t0001g0028 a0002c0001t0001g0035 a0002c0001t0001g0036 a0002c0001t0001g0037 a0002c0001t0001g0039 a0002c0001t0001g0042 a0002c0001t0001g0050 a0002c0001t0001g0051 a0002c0001t0001g0053 a0002c0001t0001g0054 a0002c0001t0001g0058 a0002c0001t0001g0060 a0002c0001t0001g0061 a0002c0001t0001g0063 a0002c0001t0001g0066 a0002c0001t0001g0067 a0002c0001t0001g0068 a0002c0001t0001g0072 a0002c0001t0001g0073 a0002c0001t0001g0083 a0002c0001t0001g0102 a0009c0017t0001g0057	24	338	0.0710	-19	c.357 others(36): Show c.357-1195_357-1177delTATATATATATATATATAT	CFAP69	ENSG00000105792.19	transcript	ENST00000389297.8	protein_coding	4/22			chr7	TogoVar
CFAP70_chr10_73248762_73363864	73351098	TATATATA others(12): Show TATATATATATATATGTATG	T T	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0003 a0003c0003t0002g0003	1	220	0.0046	-19	c.250 others(36): Show c.250+2439_250+2457delCATACATATATATATATAT	CFAP70	ENSG00000156042.19	transcript	ENST00000355577.9	protein_coding	3/27			chr10	TogoVar
CFAP92_chr3_128904873_128999076	128948377	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02630.hp2 HG02280.hp2 HG02630.hp2	a0001 a0001	a0001c0023 a0001c0024 a0001c0023 a0001c0024	a0001c0023t0005 a0001c0024t0005 a0001c0023t0005 a0001c0024t0005	a0001c0023t0005g0333 a0001c0024t0005g0332 a0001c0023t0005g0333 a0001c0024t0005g0332	2	342	0.0059	-19	c.135 others(38): Show c.1354-2421_1354-2403delAAAAAAAAAAAAAAAAAAA	CFAP92	ENSG00000114656.13	transcript	ENST00000645291.3	protein_coding	9/15			chr3	TogoVar
CFAP95_chr9_69815817_69911227	69843507	CTCCTCCT others(12): Show CTCCTCCTCCTCCTCCTCCT	C C	intron_variant intron_variant	MODIFIER	NA19003.hp1 NA19003.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0258 a0002c0003t0001g0258	1	380	0.0026	-19	c.153 others(35): Show c.153-1009_153-991delTCCTCCTCCTCCTCCTCCT	CFAP95	ENSG00000204711.9	transcript	ENST00000377197.8	protein_coding	1/5			chr9	TogoVar
CFDP1_chr16_75288710_75438503	75349650	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0195 a0001c0001t0001g0195	1	314	0.0032	-19	c.651 others(38): Show c.651-44487_651-44469delTTTTTTTTTTTTTTTTTTT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFDP1_chr16_75288710_75438503	75393737	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp2 HG00621.hp2 others(74): Show HG00558.hp2 HG00609.hp2 HG00621.hp2 HG00642.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01071.hp2 HG01106.hp1 HG01255.hp1 HG01257.hp1 HG01515.hp2 HG01516.hp2 HG01891.hp2 HG01981.hp1 HG02080.hp2 HG02132.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp2 HG02486.hp2 HG02615.hp1 HG02630.hp2 HG03041.hp1 HG03041.hp2 HG03130.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03654.hp2 HG03704.hp2 HG04115.hp1 HG04199.hp1 HG04228.hp1 HG06807.hp2 NA18747.hp2 NA18939.hp1 NA18941.hp2 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18950.hp1 NA18951.hp1 NA18952.hp1 NA18956.hp1 NA18960.hp1 NA18962.hp2 NA18963.hp2 NA18970.hp2 NA18974.hp1 NA18975.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp1 NA18990.hp2 NA18995.hp2 NA18998.hp2 NA18999.hp2 NA19000.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp1 NA19011.hp2 NA19012.hp1 NA19055.hp2 NA19063.hp2 NA19066.hp2 NA19068.hp2 NA19079.hp1 NA19084.hp1 NA20805.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0007 others(1): Show a0001c0001 a0001c0002 a0001c0007 a0003c0004	a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 others(3): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0006 a0001c0002t0009 a0001c0007t0001 a0003c0004t0001	a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0061 others(74): Show a0001c0001t0001g0034 a0001c0001t0001g0045 a0001c0001t0001g0061 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0014 a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0001g0022 a0001c0002t0001g0023 a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0035 a0001c0002t0001g0036 a0001c0002t0001g0037 a0001c0002t0001g0040 a0001c0002t0001g0041 a0001c0002t0001g0042 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0002t0001g0053 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0002t0001g0067 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0001g0099 a0001c0002t0006g0311 a0001c0002t0009g0314 a0001c0007t0001g0033 a0003c0004t0001g0006	77	314	0.2452	-19	c.650 others(36): Show c.650+1334_650+1352delTTTTTTTTTTTTTTTTTTT	CFDP1	ENSG00000153774.9	transcript	ENST00000283882.4	protein_coding	5/6			chr16	TogoVar
CFD_chr19_854664_868641	867684	AACAAGGA others(12): Show AACAAGGAGAGCACGCAGAG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 NA20129.hp1 HG01168.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0010 a0001c0001t0009g0059 a0001c0001t0009g0010 a0001c0001t0009g0059	2	287	0.0070	-19	c.44 others(30): Show c.4447_*4465delACAAGGAGAGCACGCAGAG	CFD	ENSG00000197766.9	transcript	ENST00000327726.11	protein_coding		4044		chr19	TogoVar
CFH_chr1_196647043_196752504	196692744	CTTTTTCT others(12): Show CTTTTTCTTTCTTTCTTTCT	C C	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0010 a0010	a0010c0014 a0010c0014	a0010c0014t0001 a0010c0014t0001	a0010c0014t0001g0018 a0010c0014t0001g0018	1	308	0.0033	-19	c.133 others(38): Show c.1336+2508_1336+2526delTTTCTTTCTTTCTTTCTTT	CFH	ENSG00000000971.17	transcript	ENST00000367429.9	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
CGB7_chr19_49049274_49062749	49060036	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 NA19043.hp2 HG00735.hp1 NA19043.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0030 a0002c0002t0020g0030	2	422	0.0047	-19	c.-39 others(30): Show c.-3942_-3924delTTTTTTTTTTTTTTTTTTT	CGB7	ENSG00000196337.14	transcript	ENST00000684222.1	protein_coding		2288		chr19	TogoVar
CGNL1_chr15_57371505_57555717	57378363	GTTTTTTT others(12): Show GTTTTTTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0018 a0018	a0018c0034 a0018c0034	a0018c0034t0004 a0018c0034t0004	a0018c0034t0004g0035 a0018c0034t0004g0035	1	294	0.0034	-19	c.-16 others(36): Show c.-16+1813_-16+1831delTTTTTTTTTTTTTTTTTTT	CGNL1	ENSG00000128849.11	transcript	ENST00000281282.6	protein_coding	1/18		INFO_REALIGN_3_PRIME	chr15	TogoVar
CHAC1_chr15_40948471_40961512	40951595	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp2 HG02486.hp1 HG02572.hp1 others(6): Show HG01109.hp2 HG02486.hp1 HG02572.hp1 HG02723.hp2 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG03486.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	9	420	0.0214	-19	c.-19 others(30): Show c.-1988_-1970delAAAAAAAAAAAAAAAAAAA	CHAC1	ENSG00000128965.13	transcript	ENST00000617768.5	protein_coding		1875		chr15	TogoVar
CHAF1A_chr19_4397640_4448397	4400572	GCCGGCCC others(12): Show GCCGGCCCCCGCGCGCGCCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0326 a0001c0001t0003g0326	1	384	0.0026	-19	c.-21 others(30): Show c.-2190_-2172delCCGGCCCCCGCGCGCGCCC	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding		2067		chr19	TogoVar
CHAF1A_chr19_4397640_4448397	4427136	CTTTTTTT others(12): Show CTTTTTTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp1 HG04184.hp2 HG03490.hp2 HG03492.hp1 HG04184.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088	3	384	0.0078	-19	c.137 others(38): Show c.1378-1515_1378-1497delTTTTTTTTTTTTTTTTTTT	CHAF1A	ENSG00000167670.16	transcript	ENST00000301280.10	protein_coding	7/14		INFO_REALIGN_3_PRIME	chr19	TogoVar
CHCHD2_chr7_56096573_56111476	56099542	AATCCACG others(12): Show AATCCACGGATGCTCACATC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18965.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	442	0.0023	-19	c.22 others(30): Show c.2290_*2308delGATGTGAGCATCCGTGGAT	CHCHD2	ENSG00000106153.13	transcript	ENST00000395422.4	protein_coding		2030		chr7	TogoVar
CHCHD3_chr7_132779870_133087090	133050340	TAAAAAAA others(12): Show TAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0200 a0001c0001t0001g0200	1	310	0.0032	-19	c.169 others(38): Show c.169+19783_169+19801delTTTTTTTTTTTTTTTTTTT	CHCHD3	ENSG00000106554.13	transcript	ENST00000262570.10	protein_coding	2/7			chr7	TogoVar
CHCHD6_chr3_126699240_126965420	126865339	TCCACCAA others(12): Show TCCACCAACCCCTTCTGCCC	T T	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0049 a0002c0002t0001g0049	1	216	0.0046	-19	c.495 others(38): Show c.495+12616_495+12634delACCCCTTCTGCCCCCACCA	CHCHD6	ENSG00000159685.11	transcript	ENST00000290913.8	protein_coding	5/7		INFO_REALIGN_3_PRIME	chr3	TogoVar
CHD1_chr5_98848985_98934007	98866107	TAAAAAAC others(12): Show TAAAAAACAAAAACAAAAAC	T T	intron_variant intron_variant	MODIFIER	HG03704.hp1 HG03704.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0163 a0001c0001t0001g0163	1	334	0.0030	-19	c.424 others(38): Show c.4248+2369_4248+2387delGTTTTTGTTTTTGTTTTTT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	31/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98883842	TATATATA others(12): Show TATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG01243.hp1 HG01358.hp1 others(13): Show HG00642.hp1 HG01243.hp1 HG01358.hp1 HG02109.hp1 HG02486.hp2 HG02965.hp2 HG03209.hp2 HG03516.hp2 NA18522.hp2 NA18949.hp2 NA18970.hp2 NA18998.hp1 NA19043.hp1 NA19091.hp2 NA20752.hp2 NA21309.hp2	a0002 a0003 a0002 a0003	a0002c0002 a0003c0009 a0002c0002 a0003c0009	a0002c0002t0002 a0002c0002t0010 a0002c0002t0011 others(1): Show a0002c0002t0002 a0002c0002t0010 a0002c0002t0011 a0003c0009t0002	a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0077 others(12): Show a0002c0002t0002g0072 a0002c0002t0002g0074 a0002c0002t0002g0077 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0109 a0002c0002t0002g0136 a0002c0002t0010g0004 a0002c0002t0010g0121 a0002c0002t0010g0122 a0002c0002t0011g0075 a0003c0009t0002g0078	16	334	0.0479	-19	c.256 others(36): Show c.2569-624_2569-606delTATATATATATATATATAT	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	18/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98883843	ATATATAT others(12): Show ATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01069.hp1 HG01070.hp1 others(27): Show HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01256.hp2 HG01257.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG03017.hp1 HG03209.hp1 HG03471.hp1 HG03540.hp1 HG03704.hp2 NA18612.hp1 NA18944.hp1 NA18954.hp1 NA18965.hp2 NA18974.hp2 NA18981.hp2 NA18987.hp1 NA18988.hp1 NA19004.hp1 NA19006.hp2 NA19081.hp2 NA20300.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0011 a0002c0002t0017 a0002c0002t0002 a0002c0002t0011 a0002c0002t0017	a0002c0002t0002g0003 a0002c0002t0002g0100 a0002c0002t0002g0101 others(26): Show a0002c0002t0002g0003 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0110 a0002c0002t0002g0111 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0002g0192 a0002c0002t0002g0194 a0002c0002t0002g0195 a0002c0002t0002g0226 a0002c0002t0011g0076 a0002c0002t0017g0193 a0002c0002t0017g0230	30	334	0.0898	-19	c.256 others(36): Show c.2569-625_2569-607delATATATATATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	18/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98883845	ATATATAT others(12): Show ATATATATATATATATATTT	A A	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	334	0.0030	-19	c.256 others(36): Show c.2569-627_2569-609delAAATATATATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	18/35			chr5	TogoVar
CHD1_chr5_98848985_98934007	98883849	ATATATAT others(12): Show ATATATATATATATTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA19030.hp2 NA20129.hp1 HG06807.hp1 NA19030.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0013 a0001c0003t0013	a0001c0003t0013g0007 a0001c0003t0013g0303 a0001c0003t0013g0007 a0001c0003t0013g0303	3	334	0.0090	-19	c.256 others(36): Show c.2569-631_2569-613delAAAAAAATATATATATATA	CHD1	ENSG00000153922.12	transcript	ENST00000614616.5	protein_coding	18/35			chr5	TogoVar
CHD4_chr12_6565082_6612379	6607669	CCAACACA others(12): Show CCAACACACACACACACACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18970.hp2 NA18972.hp1 NA19060.hp2 NA18970.hp2 NA18972.hp1 NA19060.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0099 a0001c0003t0003g0112 a0001c0003t0003g0120 a0001c0003t0003g0099 a0001c0003t0003g0112 a0001c0003t0003g0120	3	374	0.0080	-19	c.-46 others(28): Show c.-467_-449delTGTGTGTGTGTGTGTGTTG	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding		291		chr12	TogoVar
CHD4_chr12_6565082_6612379	6607672	ACACACAC others(12): Show ACACACACACACACACACAC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0090 a0001c0003t0003g0090	1	374	0.0027	-19	c.-47 others(28): Show c.-470_-452delGTGTGTGTGTGTGTGTGTG	CHD4	ENSG00000111642.16	transcript	ENST00000544040.7	protein_coding		294		chr12	TogoVar
CHD8_chr14_21380199_21461123	21442818	GGGGAGGA others(12): Show GGGGAGGAGAGGGGAGGGGA	G G	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0257 a0002c0002t0004g0257	1	260	0.0039	-19	c.-21 others(40): Show c.-215-10979_-215-10961delTCCCCTCCCCTCTCCTCCC	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding	1/37			chr14	TogoVar
CHD8_chr14_21380199_21461123	21457628	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00544.hp2 HG00609.hp1 others(60): Show HG00408.hp2 HG00544.hp2 HG00609.hp1 HG00609.hp2 HG00733.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01109.hp2 HG01258.hp1 HG01358.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG02004.hp1 HG02055.hp1 HG02055.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02897.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03540.hp1 HG03704.hp1 HG06807.hp1 NA18906.hp2 NA18960.hp2 NA19030.hp1 NA19043.hp2 NA19074.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0008	a0001c0001 a0001c0003 a0001c0005 others(5): Show a0001c0001 a0001c0003 a0001c0005 a0001c0009 a0001c0013 a0002c0002 a0006c0012 a0008c0017	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0003t0001 a0001c0003t0002 a0001c0005t0002 a0001c0009t0001 a0001c0013t0002 a0002c0002t0001 a0006c0012t0002 a0008c0017t0002	a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 others(60): Show a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0245 a0001c0001t0001g0247 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0025 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0031 a0001c0001t0002g0032 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0041 a0001c0001t0003g0128 a0001c0001t0003g0130 a0001c0001t0003g0142 a0001c0001t0003g0143 a0001c0001t0003g0144 a0001c0001t0003g0195 a0001c0001t0003g0196 a0001c0001t0003g0197 a0001c0001t0003g0198 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0235 a0001c0001t0003g0243 a0001c0001t0005g0030 a0001c0003t0001g0065 a0001c0003t0002g0033 a0001c0003t0002g0034 a0001c0003t0002g0035 a0001c0005t0002g0036 a0001c0005t0002g0037 a0001c0005t0002g0042 a0001c0009t0001g0239 a0001c0009t0001g0240 a0001c0013t0002g0026 a0002c0002t0001g0241 a0006c0012t0002g0021 a0008c0017t0002g0029	63	260	0.2423	-19	c.-18 others(30): Show c.-1831_-1813delTTTTTTTTTTTTTTTTTTT	CHD8	ENSG00000100888.15	transcript	ENST00000646647.2	protein_coding		1506		chr14	TogoVar
CHD9_chr16_53049991_53332497	53107470	AAAATAAA others(12): Show AAAATAAAATAAAATAAAAT	A A	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG03041.hp1 HG03540.hp1 others(4): Show HG02055.hp1 HG03041.hp1 HG03540.hp1 HG03579.hp2 NA18906.hp2 NA20129.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0003 a0001c0003t0002 a0001c0001t0003 a0001c0003t0002	a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 others(4): Show a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0003t0002g0224	7	238	0.0294	-19	c.-16 others(40): Show c.-164-48433_-164-48415delTAAAATAAAATAAAATAAA	CHD9	ENSG00000177200.18	transcript	ENST00000447540.6	protein_coding	1/38		INFO_REALIGN_3_PRIME	chr16	TogoVar
CHGB_chr20_5906510_5930353	5926069	ATATATAT others(12): Show ATATATATATATATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 HG03225.hp1 HG03486.hp1 others(3): Show HG01516.hp1 HG03225.hp1 HG03486.hp1 NA18747.hp2 NA18951.hp1 NA18984.hp2	a0001 a0004 a0018 a0001 a0004 a0018	a0001c0001 a0004c0004 a0018c0021 a0001c0001 a0004c0004 a0018c0021	a0001c0001t0001 a0004c0004t0001 a0018c0021t0001 a0001c0001t0001 a0004c0004t0001 a0018c0021t0001	a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0044 others(2): Show a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0044 a0004c0004t0001g0099 a0018c0021t0001g0102	6	440	0.0136	-19	c.10 others(30): Show c.1021_*1039delTATATATATATATATATAT	CHGB	ENSG00000089199.10	transcript	ENST00000378961.9	protein_coding		717		chr20	TogoVar
CHIC2_chr4_54004789_54069605	54068376	CCTTCCAC others(12): Show CCTTCCACTATCTTAGAACA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	244	0.0041	-19	c.-40 others(30): Show c.-4095_-4077delTGTTCTAAGATAGTGGAAG	CHIC2	ENSG00000109220.11	transcript	ENST00000263921.8	protein_coding		3772		chr4	TogoVar
CHRM2_chr7_136863652_137025213	136867962	TATATATA others(12): Show TATATATATATATATTCTGG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01257.hp1 HG01257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0089 a0001c0001t0008g0089	1	320	0.0031	-19	c.-13 others(30): Show c.-1312_-1294delATATATATATATATTCTGG	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding		689		chr7	TogoVar
CHRM2_chr7_136863652_137025213	136938915	CAAAAAAA others(12): Show CAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG03098.hp2 HG00438.hp1 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0021 a0001c0001t0005 a0001c0001t0021	a0001c0001t0005g0172 a0001c0001t0021g0045 a0001c0001t0005g0172 a0001c0001t0021g0045	2	320	0.0063	-19	c.-12 others(40): Show c.-124-53242_-124-53224delAAAAAAAAAAAAAAAAAAA	CHRM2	ENSG00000181072.12	transcript	ENST00000680005.1	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
CHRM3_chr1_239381568_239920450	239759179	TTTGTTTT others(12): Show TTTGTTTTTTTTTTTTTTAG	T T	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02040.hp2 HG02083.hp1 others(3): Show HG00609.hp1 HG02040.hp2 HG02083.hp1 HG02258.hp1 HG03471.hp2 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0037 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0037 a0001c0001t0038 a0002c0002t0002	a0001c0001t0001g0002 a0001c0001t0001g0058 a0001c0001t0002g0061 others(3): Show a0001c0001t0001g0002 a0001c0001t0001g0058 a0001c0001t0002g0061 a0001c0001t0037g0029 a0001c0001t0038g0032 a0002c0002t0002g0012	6	116	0.0517	-19	c.-14 others(40): Show c.-146-68072_-146-68054delTTGTTTTTTTTTTTTTTAG	CHRM3	ENSG00000133019.12	transcript	ENST00000676153.1	protein_coding	5/6			chr1	TogoVar
CHRNA7_chr15_32025515_32178018	32105466	AGAGGAGG others(12): Show AGAGGAGGAGAGGAGGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG01109.hp2 others(16): Show HG01070.hp2 HG01071.hp1 HG01109.hp2 HG01169.hp1 HG01891.hp1 HG02055.hp2 HG02723.hp1 HG02895.hp2 HG02922.hp1 HG02965.hp2 HG03041.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp2 HG03540.hp1 HG03831.hp1 NA18906.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0007 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 others(12): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0013 a0001c0001t0016 a0001c0001t0043 a0001c0002t0002 a0001c0004t0017 a0001c0004t0044 a0001c0006t0005 a0001c0006t0010 a0001c0007t0008 a0001c0007t0019 a0001c0010t0009 a0001c0011t0026 a0001c0011t0048	a0001c0001t0001g0223 a0001c0001t0008g0118 a0001c0001t0008g0157 others(16): Show a0001c0001t0001g0223 a0001c0001t0008g0118 a0001c0001t0008g0157 a0001c0001t0008g0224 a0001c0001t0013g0204 a0001c0001t0013g0205 a0001c0001t0016g0200 a0001c0001t0043g0183 a0001c0002t0002g0015 a0001c0004t0017g0122 a0001c0004t0044g0174 a0001c0006t0005g0184 a0001c0006t0010g0121 a0001c0007t0008g0215 a0001c0007t0019g0123 a0001c0010t0009g0113 a0001c0010t0009g0114 a0001c0011t0026g0211 a0001c0011t0048g0119	19	307	0.0619	-19	c.240 others(36): Show c.240+4148_240+4166delAGGAGGAAAGGAGGAGGAG	CHRNA7	ENSG00000175344.19	transcript	ENST00000306901.9	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar

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