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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
COL4A2_chr13_110302284_110518209	110355355	TGGGGGAG others(23): Show TGGGGGAGGGCTGCACTAGCTCACCTGTGTG	T T	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02622.hp1 HG03139.hp2 HG01074.hp2 HG02622.hp1 HG03139.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0022 a0002c0065 a0008c0023 a0001c0022 a0002c0065 a0008c0023	a0001c0022t0014 a0002c0065t0014 a0008c0023t0001 a0001c0022t0014 a0002c0065t0014 a0008c0023t0001	a0001c0022t0014g0037 a0002c0065t0014g0028 a0008c0023t0001g0262 a0001c0022t0014g0037 a0002c0065t0014g0028 a0008c0023t0001g0262	3	372	0.0081	-30	c.100 others(47): Show c.100-2086_100-2057delGGGGGAGGGCTGCACTAGCTCACCTGTG TG		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110355566	TAGCTCAC others(23): Show TAGCTCACCTGTGTGGGGGGAGGGCAGTACC	T T	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00609.hp2 others(44): Show HG00280.hp1 HG00423.hp2 HG00609.hp2 HG00639.hp1 HG00741.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp1 HG01123.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02080.hp1 HG02523.hp2 HG03017.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03654.hp1 HG03688.hp1 HG04199.hp2 HG04204.hp1 NA18941.hp2 NA18950.hp1 NA18954.hp2 NA18955.hp2 NA18957.hp2 NA18971.hp2 NA18979.hp2 NA18984.hp1 NA18986.hp2 NA18989.hp1 NA19001.hp2 NA19009.hp2 NA19010.hp1 NA19011.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19079.hp1 NA19081.hp1 NA19082.hp1 NA19084.hp1 NA19086.hp2	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0008 a0012 a0013 a0026 a0027	a0001c0001 a0001c0002 a0001c0003 others(22): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0014 a0001c0015 a0001c0016 a0001c0024 a0001c0037 a0001c0052 a0001c0083 a0002c0006 a0002c0050 a0003c0010 a0004c0009 a0004c0030 a0004c0084 a0006c0033 a0008c0023 a0012c0034 a0013c0042 a0026c0104 a0027c0080	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(37): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0002t0001 a0001c0002t0002 a0001c0003t0003 a0001c0003t0017 a0001c0004t0004 a0001c0004t0040 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0009 a0001c0008t0001 a0001c0008t0002 a0001c0008t0004 a0001c0008t0007 a0001c0014t0001 a0001c0015t0001 a0001c0015t0002 a0001c0016t0007 a0001c0024t0002 a0001c0037t0005 a0001c0052t0003 a0001c0083t0001 a0002c0006t0006 a0002c0050t0002 a0003c0010t0004 a0004c0009t0001 a0004c0030t0001 a0004c0084t0005 a0006c0033t0012 a0008c0023t0001 a0008c0023t0002 a0008c0023t0009 a0012c0034t0001 a0013c0042t0002 a0026c0104t0006 a0027c0080t0003	a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0003g0092 others(44): Show a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0003g0092 a0001c0001t0004g0290 a0001c0001t0005g0154 a0001c0002t0001g0243 a0001c0002t0002g0308 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0017g0178 a0001c0004t0004g0291 a0001c0004t0040g0050 a0001c0005t0001g0249 a0001c0005t0002g0342 a0001c0005t0003g0052 a0001c0005t0003g0103 a0001c0005t0009g0013 a0001c0008t0001g0149 a0001c0008t0001g0202 a0001c0008t0002g0344 a0001c0008t0004g0285 a0001c0008t0007g0214 a0001c0014t0001g0194 a0001c0015t0001g0198 a0001c0015t0002g0269 a0001c0016t0007g0224 a0001c0016t0007g0225 a0001c0024t0002g0345 a0001c0037t0005g0185 a0001c0052t0003g0141 a0001c0083t0001g0191 a0002c0006t0006g0070 a0002c0050t0002g0317 a0003c0010t0004g0351 a0004c0009t0001g0244 a0004c0030t0001g0113 a0004c0084t0005g0253 a0006c0033t0012g0335 a0008c0023t0001g0262 a0008c0023t0002g0312 a0008c0023t0009g0015 a0012c0034t0001g0196 a0012c0034t0001g0197 a0013c0042t0002g0313 a0013c0042t0002g0314 a0026c0104t0006g0085 a0027c0080t0003g0057	47	372	0.1263	-30	c.100 others(47): Show c.100-1891_100-1862delGGGGGAGGGCAGTACCAGCTCACCTGTG TG		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	3/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481112	GTTGCTGG others(23): Show GTTGCTGGAGACACACAGTTCTGTCCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03516.hp2 HG02970.hp1 HG03516.hp2	a0002 a0003 a0002 a0003	a0002c0013 a0003c0007 a0002c0013 a0003c0007	a0002c0013t0005 a0003c0007t0008 a0002c0013t0005 a0003c0007t0008	a0002c0013t0005g0036 a0003c0007t0008g0038 a0002c0013t0005g0036 a0003c0007t0008g0038	2	372	0.0054	-30	c.275 others(47): Show c.2758+738_2758+767delAGTTCTGTCCCTCCATTGCTGGAGACAC AC		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481128	AGTTCTGT others(23): Show AGTTCTGTCCCTCCATTGCTGGAGACACACT	A A	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp1	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0003 a0001c0015t0003	a0001c0015t0003g0093 a0001c0015t0003g0093	1	372	0.0027	-30	c.275 others(47): Show c.2758+752_2758+781delATTGCTGGAGACACACTGTTCTGTCCCT CC		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481142	ATTGCTGG others(23): Show ATTGCTGGAGACACACTGTTCTGTCCCTCCG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0003 a0003	a0003c0094 a0003c0094	a0003c0094t0025 a0003c0094t0025	a0003c0094t0025g0175 a0003c0094t0025g0175	1	372	0.0027	-30	c.275 others(47): Show c.2758+798_2758+827delTGTTCTGTCCCTCCGTTGCTGGAGACAC AC		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481288	TTCCGTTG others(23): Show TTCCGTTGCTGGAGACACACTGTTCTGTCCC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG03579.hp2 HG01884.hp1 HG02258.hp1 HG03579.hp2	a0003 a0003	a0003c0010 a0003c0068 a0003c0010 a0003c0068	a0003c0010t0006 a0003c0068t0024 a0003c0010t0006 a0003c0068t0024	a0003c0010t0006g0017 a0003c0010t0006g0018 a0003c0068t0024g0247 a0003c0010t0006g0017 a0003c0010t0006g0018 a0003c0068t0024g0247	3	372	0.0081	-30	c.275 others(47): Show c.2758+902_2758+931delGTTGCTGGAGACACACTGTTCTGTCCCT CC		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481432	CTGTCCCT others(23): Show CTGTCCCTCCGTTGCTGGAGACACACTGCTG	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02258.hp1 HG03579.hp2 others(1): Show HG01884.hp1 HG02258.hp1 HG03579.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0101 a0003c0010 a0003c0068 a0001c0101 a0003c0010 a0003c0068	a0001c0101t0019 a0003c0010t0006 a0003c0068t0024 a0001c0101t0019 a0003c0010t0006 a0003c0068t0024	a0001c0101t0019g0129 a0003c0010t0006g0017 a0003c0010t0006g0018 others(1): Show a0001c0101t0019g0129 a0003c0010t0006g0017 a0003c0010t0006g0018 a0003c0068t0024g0247	4	372	0.0108	-30	c.275 others(49): Show c.2759-1058_2759-1029delTGCTGTGTCCCTCCGTTGCTGGAGAC ACAC		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481742	GTTGCTGG others(23): Show GTTGCTGGAGACACACAGTTCTGTCCCTCCA	G G	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01891.hp1 HG02809.hp1 others(1): Show HG01884.hp2 HG01891.hp1 HG02809.hp1 NA18906.hp2	a0003 a0020 a0003 a0020	a0003c0039 a0003c0040 a0003c0118 others(1): Show a0003c0039 a0003c0040 a0003c0118 a0020c0096	a0003c0039t0008 a0003c0040t0001 a0003c0118t0036 others(1): Show a0003c0039t0008 a0003c0040t0001 a0003c0118t0036 a0020c0096t0010	a0003c0039t0008g0027 a0003c0040t0001g0203 a0003c0118t0036g0139 others(1): Show a0003c0039t0008g0027 a0003c0040t0001g0203 a0003c0118t0036g0139 a0020c0096t0010g0208	4	372	0.0108	-30	c.275 others(47): Show c.2759-758_2759-729delAGTTCTGTCCCTCCATTGCTGGAGACAC AC		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481949	GTGCTGGA others(23): Show GTGCTGGAGACACACTGTTCTGTCCTTCCGT	G G	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0006 a0003c0010t0006	a0003c0010t0006g0017 a0003c0010t0006g0017	1	372	0.0027	-30	c.275 others(47): Show c.2759-553_2759-524delCTGTTCTGTCCTTCCGTTGCTGGAGACA CA		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110481978	GTTGCTGG others(23): Show GTTGCTGGAGACACATTGGTCGGTCCTTCCA	G G	intron_variant intron_variant	MODIFIER	HG01943.hp2 HG02559.hp1 HG02723.hp1 others(4): Show HG01943.hp2 HG02559.hp1 HG02723.hp1 HG02723.hp2 HG03041.hp2 HG03486.hp1 NA20300.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0046 a0002c0097 a0002c0111 others(4): Show a0001c0046 a0002c0097 a0002c0111 a0003c0007 a0003c0093 a0003c0094 a0003c0112	a0001c0046t0034 a0002c0097t0015 a0002c0111t0015 others(4): Show a0001c0046t0034 a0002c0097t0015 a0002c0111t0015 a0003c0007t0002 a0003c0093t0010 a0003c0094t0025 a0003c0112t0006	a0001c0046t0034g0007 a0002c0097t0015g0260 a0002c0111t0015g0368 others(4): Show a0001c0046t0034g0007 a0002c0097t0015g0260 a0002c0111t0015g0368 a0003c0007t0002g0263 a0003c0093t0010g0148 a0003c0094t0025g0175 a0003c0112t0006g0068	7	372	0.0188	-30	c.275 others(47): Show c.2759-522_2759-493delTGGTCGGTCCTTCCATTGCTGGAGACAC AT		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	31/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A2_chr13_110302284_110518209	110493051	AGGTGAAA others(23): Show AGGTGAAATAACGATGAGTGACACCCCCATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00280.hp1 others(266): Show HG00099.hp1 HG00140.hp1 HG00280.hp1 HG00280.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp2 HG02622.hp1 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03831.hp2 HG03834.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18941.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp2 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18987.hp2 NA18988.hp1 NA18989.hp2 NA18991.hp2 NA18992.hp1 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19062.hp1 NA19062.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19086.hp2 NA19087.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(16): Show a0001 a0002 a0003 a0004 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0024 a0025 a0027	a0001c0001 a0001c0002 a0001c0003 others(87): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0008 a0001c0011 a0001c0014 a0001c0015 a0001c0016 a0001c0022 a0001c0024 a0001c0025 a0001c0028 a0001c0029 a0001c0037 a0001c0046 a0001c0047 a0001c0051 a0001c0075 a0001c0077 a0001c0079 a0001c0098 a0001c0100 a0001c0106 a0001c0114 a0002c0006 a0002c0013 a0002c0017 a0002c0019 a0002c0038 a0002c0041 a0002c0050 a0002c0054 a0002c0056 a0002c0063 a0002c0064 a0002c0065 a0002c0066 a0002c0073 a0002c0082 a0002c0087 a0002c0090 a0002c0092 a0002c0097 a0002c0107 a0002c0110 a0002c0111 a0002c0120 a0002c0121 a0002c0122 a0003c0007 a0003c0010 a0003c0018 a0003c0039 a0003c0040 a0003c0044 a0003c0067 a0003c0068 a0003c0069 a0003c0071 a0003c0095 a0003c0105 a0003c0117 a0003c0118 a0004c0009 a0004c0012 a0004c0030 a0004c0058 a0004c0081 a0004c0084 a0004c0089 a0005c0021 a0005c0043 a0007c0031 a0007c0059 a0007c0060 a0008c0023 a0009c0088 a0010c0036 a0011c0032 a0012c0034 a0013c0042 a0014c0108 a0015c0109 a0016c0048 a0017c0061 a0024c0076 a0025c0103 a0027c0080	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(167): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0010 a0001c0001t0023 a0001c0001t0042 a0001c0001t0046 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0008 a0001c0002t0023 a0001c0002t0029 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0017 a0001c0003t0044 a0001c0003t0049 a0001c0004t0001 a0001c0004t0002 a0001c0004t0003 a0001c0004t0004 a0001c0004t0005 a0001c0004t0006 a0001c0004t0040 a0001c0005t0001 a0001c0005t0002 a0001c0005t0003 a0001c0005t0009 a0001c0008t0001 a0001c0008t0003 a0001c0008t0004 a0001c0008t0007 a0001c0011t0003 a0001c0011t0008 a0001c0011t0022 a0001c0014t0001 a0001c0014t0004 a0001c0014t0005 a0001c0014t0009 a0001c0014t0026 a0001c0015t0001 a0001c0015t0002 a0001c0015t0003 a0001c0016t0007 a0001c0022t0014 a0001c0022t0018 a0001c0024t0002 a0001c0024t0003 a0001c0025t0001 a0001c0025t0002 a0001c0028t0001 a0001c0028t0002 a0001c0029t0001 a0001c0029t0002 a0001c0037t0005 a0001c0046t0034 a0001c0047t0002 a0001c0051t0004 a0001c0075t0001 a0001c0077t0005 a0001c0079t0005 a0001c0098t0005 a0001c0100t0001 a0001c0106t0001 a0001c0114t0010 a0002c0006t0001 a0002c0006t0002 a0002c0006t0003 a0002c0006t0004 a0002c0006t0005 a0002c0006t0006 a0002c0013t0001 a0002c0013t0002 a0002c0013t0005 a0002c0013t0006 a0002c0013t0008 a0002c0013t0043 a0002c0017t0002 a0002c0017t0003 a0002c0019t0004 a0002c0038t0002 a0002c0041t0002 a0002c0041t0018 a0002c0050t0002 a0002c0054t0045 a0002c0056t0004 a0002c0063t0007 a0002c0064t0009 a0002c0065t0014 a0002c0066t0007 a0002c0073t0002 a0002c0082t0004 a0002c0087t0001 a0002c0090t0008 a0002c0092t0001 a0002c0097t0015 a0002c0107t0033 a0002c0110t0008 a0002c0111t0015 a0002c0120t0007 a0002c0121t0016 a0002c0122t0003 a0003c0007t0002 a0003c0007t0004 a0003c0007t0005 a0003c0007t0006 a0003c0007t0008 a0003c0007t0020 a0003c0007t0030 a0003c0007t0035 a0003c0010t0004 a0003c0010t0005 a0003c0010t0006 a0003c0010t0008 a0003c0018t0004 a0003c0018t0005 a0003c0018t0006 a0003c0039t0008 a0003c0040t0002 a0003c0044t0004 a0003c0067t0050 a0003c0068t0024 a0003c0069t0009 a0003c0071t0001 a0003c0095t0003 a0003c0105t0011 a0003c0117t0006 a0003c0118t0036 a0004c0009t0001 a0004c0009t0002 a0004c0009t0003 a0004c0012t0001 a0004c0012t0003 a0004c0012t0004 a0004c0012t0008 a0004c0030t0001 a0004c0058t0001 a0004c0081t0001 a0004c0084t0005 a0004c0089t0005 a0005c0021t0041 a0005c0043t0001 a0007c0031t0002 a0007c0031t0009 a0007c0059t0024 a0007c0060t0015 a0008c0023t0001 a0008c0023t0002 a0008c0023t0009 a0009c0088t0002 a0010c0036t0021 a0011c0032t0002 a0011c0032t0003 a0012c0034t0001 a0013c0042t0002 a0014c0108t0002 a0015c0109t0002 a0016c0048t0005 a0017c0061t0011 a0024c0076t0003 a0025c0103t0004 a0027c0080t0003	a0001c0001t0001g0153 a0001c0001t0001g0189 a0001c0001t0001g0190 others(265): Show a0001c0001t0001g0153 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0195 a0001c0001t0001g0231 a0001c0001t0001g0363 a0001c0001t0002g0306 a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0091 a0001c0001t0003g0092 a0001c0001t0003g0098 a0001c0001t0003g0124 a0001c0001t0004g0280 a0001c0001t0004g0290 a0001c0001t0004g0348 a0001c0001t0004g0350 a0001c0001t0005g0107 a0001c0001t0005g0115 a0001c0001t0005g0154 a0001c0001t0005g0192 a0001c0001t0006g0047 a0001c0001t0006g0074 a0001c0001t0006g0075 a0001c0001t0006g0083 a0001c0001t0010g0033 a0001c0001t0010g0035 a0001c0001t0023g0329 a0001c0001t0042g0022 a0001c0001t0046g0283 a0001c0002t0001g0101 a0001c0002t0001g0152 a0001c0002t0002g0308 a0001c0002t0002g0318 a0001c0002t0002g0349 a0001c0002t0003g0079 a0001c0002t0003g0127 a0001c0002t0004g0275 a0001c0002t0004g0292 a0001c0002t0005g0100 a0001c0002t0005g0158 a0001c0002t0005g0215 a0001c0002t0005g0216 a0001c0002t0006g0046 a0001c0002t0008g0012 a0001c0002t0023g0305 a0001c0002t0029g0204 a0001c0003t0001g0165 a0001c0003t0001g0232 a0001c0003t0001g0248 a0001c0003t0001g0254 a0001c0003t0002g0267 a0001c0003t0002g0293 a0001c0003t0002g0296 a0001c0003t0002g0333 a0001c0003t0002g0340 a0001c0003t0002g0341 a0001c0003t0002g0353 a0001c0003t0003g0049 a0001c0003t0003g0056 a0001c0003t0003g0061 a0001c0003t0003g0065 a0001c0003t0003g0088 a0001c0003t0003g0089 a0001c0003t0003g0132 a0001c0003t0003g0133 a0001c0003t0017g0178 a0001c0003t0017g0245 a0001c0003t0044g0242 a0001c0003t0049g0274 a0001c0004t0001g0099 a0001c0004t0001g0150 a0001c0004t0002g0288 a0001c0004t0002g0359 a0001c0004t0003g0048 a0001c0004t0003g0059 a0001c0004t0003g0140 a0001c0004t0004g0278 a0001c0004t0004g0287 a0001c0004t0004g0291 a0001c0004t0004g0331 a0001c0004t0004g0354 a0001c0004t0004g0355 a0001c0004t0004g0356 a0001c0004t0004g0357 a0001c0004t0005g0104 a0001c0004t0005g0163 a0001c0004t0005g0229 a0001c0004t0006g0053 a0001c0004t0040g0050 a0001c0005t0001g0102 a0001c0005t0001g0182 a0001c0005t0001g0249 a0001c0005t0001g0257 a0001c0005t0001g0362 a0001c0005t0002g0297 a0001c0005t0002g0322 a0001c0005t0002g0332 a0001c0005t0002g0337 a0001c0005t0003g0052 a0001c0005t0003g0071 a0001c0005t0003g0103 a0001c0005t0009g0013 a0001c0008t0001g0108 a0001c0008t0001g0222 a0001c0008t0003g0081 a0001c0008t0004g0285 a0001c0008t0007g0214 a0001c0011t0003g0125 a0001c0011t0008g0176 a0001c0011t0022g0358 a0001c0014t0001g0146 a0001c0014t0004g0324 a0001c0014t0005g0240 a0001c0014t0009g0004 a0001c0014t0026g0156 a0001c0015t0001g0198 a0001c0015t0001g0227 a0001c0015t0002g0269 a0001c0015t0002g0284 a0001c0015t0002g0343 a0001c0015t0003g0086 a0001c0015t0003g0093 a0001c0016t0007g0235 a0001c0022t0014g0037 a0001c0022t0018g0173 a0001c0024t0002g0345 a0001c0024t0003g0060 a0001c0024t0003g0087 a0001c0025t0001g0201 a0001c0025t0002g0339 a0001c0025t0002g0346 a0001c0028t0001g0167 a0001c0028t0002g0304 a0001c0029t0001g0161 a0001c0029t0002g0330 a0001c0037t0005g0185 a0001c0046t0034g0007 a0001c0047t0002g0310 a0001c0051t0004g0315 a0001c0075t0001g0106 a0001c0077t0005g0236 a0001c0079t0005g0361 a0001c0098t0005g0237 a0001c0100t0001g0164 a0001c0106t0001g0217 a0001c0114t0010g0030 a0002c0006t0001g0228 a0002c0006t0001g0258 a0002c0006t0002g0024 a0002c0006t0003g0084 a0002c0006t0004g0272 a0002c0006t0005g0110 a0002c0006t0005g0157 a0002c0006t0006g0066 a0002c0006t0006g0070 a0002c0006t0006g0090 a0002c0006t0006g0143 a0002c0006t0006g0144 a0002c0013t0001g0044 a0002c0013t0002g0265 a0002c0013t0005g0036 a0002c0013t0005g0188 a0002c0013t0006g0118 a0002c0013t0008g0006 a0002c0013t0043g0016 a0002c0017t0002g0295 a0002c0017t0002g0300 a0002c0017t0002g0370 a0002c0017t0003g0126 a0002c0019t0004g0365 a0002c0038t0002g0360 a0002c0041t0002g0369 a0002c0041t0018g0003 a0002c0050t0002g0317 a0002c0054t0045g0233 a0002c0056t0004g0266 a0002c0063t0007g0147 a0002c0064t0009g0170 a0002c0065t0014g0028 a0002c0066t0007g0181 a0002c0073t0002g0213 a0002c0082t0004g0366 a0002c0087t0001g0256 a0002c0090t0008g0041 a0002c0092t0001g0230 a0002c0097t0015g0260 a0002c0107t0033g0174 a0002c0110t0008g0014 a0002c0111t0015g0368 a0002c0120t0007g0029 a0002c0121t0016g0238 a0002c0122t0003g0020 a0003c0007t0002g0263 a0003c0007t0004g0347 a0003c0007t0005g0169 a0003c0007t0005g0221 a0003c0007t0005g0259 a0003c0007t0006g0119 a0003c0007t0008g0038 a0003c0007t0008g0186 a0003c0007t0020g0120 a0003c0007t0030g0352 a0003c0007t0035g0025 a0003c0010t0004g0002 a0003c0010t0004g0268 a0003c0010t0004g0351 a0003c0010t0005g0218 a0003c0010t0006g0134 a0003c0010t0008g0010 a0003c0018t0004g0309 a0003c0018t0005g0116 a0003c0018t0005g0117 a0003c0018t0006g0121 a0003c0018t0006g0145 a0003c0039t0008g0027 a0003c0040t0002g0261 a0003c0044t0004g0326 a0003c0044t0004g0327 a0003c0067t0050g0151 a0003c0068t0024g0247 a0003c0069t0009g0008 a0003c0071t0001g0209 a0003c0095t0003g0082 a0003c0105t0011g0168 a0003c0117t0006g0023 a0003c0118t0036g0139 a0004c0009t0001g0244 a0004c0009t0002g0289 a0004c0009t0002g0325 a0004c0009t0003g0055 a0004c0009t0003g0122 a0004c0009t0003g0128 a0004c0012t0001g0199 a0004c0012t0003g0077 a0004c0012t0004g0299 a0004c0012t0004g0307 a0004c0012t0008g0009 a0004c0030t0001g0113 a0004c0058t0001g0183 a0004c0081t0001g0246 a0004c0084t0005g0253 a0004c0089t0005g0187 a0005c0021t0041g0072 a0005c0043t0001g0137 a0007c0031t0002g0364 a0007c0031t0009g0042 a0007c0059t0024g0252 a0007c0060t0015g0264 a0008c0023t0001g0262 a0008c0023t0002g0312 a0008c0023t0009g0015 a0009c0088t0002g0160 a0010c0036t0021g0319 a0010c0036t0021g0320 a0011c0032t0002g0302 a0011c0032t0003g0123 a0012c0034t0001g0196 a0012c0034t0001g0197 a0013c0042t0002g0313 a0013c0042t0002g0314 a0014c0108t0002g0323 a0015c0109t0002g0321 a0016c0048t0005g0206 a0017c0061t0011g0039 a0024c0076t0003g0076 a0025c0103t0004g0301 a0027c0080t0003g0057	269	372	0.7231	-30	c.356 others(46): Show c.3563-102_3563-73delATGGGTGAAATAACGATGAGTGACACCCC C		COL4A2	ENSG00000134871.19	transcript	ENST00000360467.7	protein_coding	38/47					INFO_REALIGN_3_PRIME	chr13	TogoVar
COL4A3_chr2_227159624_227319792	227193840	GAGAAGGA others(23): Show GAGAAGGAGAGGAGAAGGAGAAGGGAAATAA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00438.hp1 HG00609.hp1 others(85): Show HG00099.hp1 HG00438.hp1 HG00609.hp1 HG00673.hp2 HG01070.hp2 HG01074.hp1 HG01081.hp2 HG01167.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01361.hp2 HG01884.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp1 HG02056.hp1 HG02083.hp2 HG02135.hp1 HG02273.hp2 HG02615.hp1 HG02630.hp2 HG02683.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02896.hp1 HG03195.hp1 HG03195.hp2 HG03225.hp1 HG03239.hp2 HG03491.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp2 HG04228.hp2 HG06807.hp1 NA18612.hp1 NA18945.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18957.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18969.hp1 NA18972.hp2 NA18974.hp1 NA18977.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18990.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19056.hp2 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19074.hp1 NA19083.hp2 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA19091.hp2 NA19240.hp2 NA20752.hp2 NA20905.hp2	a0001 a0002 a0003 others(17): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0021 a0027 a0034 a0038	a0001c0001 a0001c0047 a0002c0004 others(20): Show a0001c0001 a0001c0047 a0002c0004 a0003c0002 a0003c0011 a0003c0040 a0004c0003 a0005c0005 a0006c0010 a0007c0006 a0008c0009 a0009c0008 a0010c0014 a0011c0012 a0012c0017 a0013c0015 a0014c0023 a0015c0025 a0016c0024 a0021c0053 a0027c0048 a0034c0033 a0038c0055	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0024 a0001c0047t0002 a0002c0004t0008 a0003c0002t0003 a0003c0011t0001 a0003c0011t0010 a0003c0011t0021 a0003c0011t0022 a0003c0040t0014 a0004c0003t0003 a0004c0003t0004 a0005c0005t0001 a0005c0005t0002 a0006c0010t0001 a0006c0010t0003 a0006c0010t0006 a0007c0006t0005 a0008c0009t0001 a0009c0008t0001 a0009c0008t0017 a0010c0014t0002 a0011c0012t0001 a0012c0017t0008 a0013c0015t0002 a0014c0023t0002 a0015c0025t0004 a0016c0024t0002 a0021c0053t0001 a0027c0048t0001 a0034c0033t0001 a0038c0055t0001	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 others(85): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0100 a0001c0001t0001g0186 a0001c0001t0001g0205 a0001c0001t0001g0222 a0001c0001t0001g0231 a0001c0001t0001g0319 a0001c0001t0002g0033 a0001c0001t0002g0050 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0097 a0001c0001t0002g0111 a0001c0001t0002g0130 a0001c0001t0002g0135 a0001c0001t0002g0150 a0001c0001t0002g0172 a0001c0001t0002g0185 a0001c0001t0002g0252 a0001c0001t0002g0264 a0001c0001t0002g0286 a0001c0001t0002g0291 a0001c0001t0005g0051 a0001c0001t0007g0128 a0001c0001t0024g0290 a0001c0047t0002g0027 a0002c0004t0008g0094 a0003c0002t0003g0136 a0003c0002t0003g0137 a0003c0002t0003g0218 a0003c0002t0003g0237 a0003c0002t0003g0312 a0003c0002t0003g0326 a0003c0011t0001g0260 a0003c0011t0010g0341 a0003c0011t0021g0303 a0003c0011t0022g0001 a0003c0040t0014g0038 a0004c0003t0003g0287 a0004c0003t0003g0288 a0004c0003t0004g0016 a0004c0003t0004g0028 a0004c0003t0004g0129 a0004c0003t0004g0132 a0004c0003t0004g0250 a0004c0003t0004g0304 a0004c0003t0004g0317 a0005c0005t0001g0032 a0005c0005t0001g0194 a0005c0005t0002g0197 a0005c0005t0002g0204 a0005c0005t0002g0223 a0006c0010t0001g0014 a0006c0010t0003g0316 a0006c0010t0006g0066 a0007c0006t0005g0126 a0007c0006t0005g0227 a0007c0006t0005g0289 a0007c0006t0005g0327 a0007c0006t0005g0328 a0008c0009t0001g0085 a0008c0009t0001g0275 a0009c0008t0001g0167 a0009c0008t0001g0187 a0009c0008t0017g0158 a0010c0014t0002g0086 a0011c0012t0001g0189 a0011c0012t0001g0190 a0011c0012t0001g0239 a0011c0012t0001g0247 a0011c0012t0001g0261 a0011c0012t0001g0262 a0012c0017t0008g0055 a0013c0015t0002g0074 a0013c0015t0002g0075 a0013c0015t0002g0151 a0014c0023t0002g0338 a0015c0025t0004g0127 a0016c0024t0002g0232 a0016c0024t0002g0294 a0021c0053t0001g0165 a0027c0048t0001g0141 a0034c0033t0001g0188 a0038c0055t0001g0007	88	344	0.2558	-30	c.87+ others(47): Show c.87+29028_87+29057delAGAAGGAGAGGAGAAGGAGAAGGGAAAT AA		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51						chr2	TogoVar
COL4A3_chr2_227159624_227319792	227203489	GTATATGT others(23): Show GTATATGTGTATATATACATATATGTGTGTA	G G	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00673.hp1 HG01934.hp2 others(15): Show HG00558.hp2 HG00673.hp1 HG01934.hp2 HG01978.hp1 HG02015.hp2 HG02647.hp2 HG03491.hp2 NA18947.hp1 NA18948.hp2 NA18962.hp2 NA18965.hp1 NA18968.hp1 NA18975.hp1 NA18977.hp2 NA18992.hp1 NA18994.hp1 NA19056.hp1 NA19083.hp1	a0001 a0002 a0004 others(6): Show a0001 a0002 a0004 a0005 a0006 a0008 a0010 a0017 a0022	a0001c0001 a0002c0004 a0002c0007 others(8): Show a0001c0001 a0002c0004 a0002c0007 a0002c0027 a0004c0003 a0005c0005 a0006c0013 a0008c0009 a0010c0014 a0017c0019 a0022c0052	a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 others(10): Show a0001c0001t0001 a0001c0001t0002 a0002c0004t0001 a0002c0007t0001 a0002c0027t0003 a0004c0003t0004 a0005c0005t0007 a0006c0013t0001 a0008c0009t0001 a0010c0014t0001 a0010c0014t0002 a0017c0019t0004 a0022c0052t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0153 others(15): Show a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0002g0153 a0001c0001t0002g0173 a0001c0001t0002g0228 a0002c0004t0001g0154 a0002c0007t0001g0019 a0002c0027t0003g0342 a0004c0003t0004g0155 a0004c0003t0004g0296 a0004c0003t0004g0302 a0005c0005t0007g0157 a0006c0013t0001g0096 a0008c0009t0001g0309 a0010c0014t0001g0023 a0010c0014t0002g0021 a0017c0019t0004g0181 a0022c0052t0001g0325	18	344	0.0523	-30	c.88- others(47): Show c.88-34203_88-34174delGTGTATATATACATATATGTGTGTATAT AT		COL4A3	ENSG00000169031.21	transcript	ENST00000396578.8	protein_coding	1/51					INFO_REALIGN_3_PRIME	chr2	TogoVar
COL4A5_chrX_108434838_108702545	108521530	TCTTCTAT others(23): Show TCTTCTATAACCTATTGCACTGCATGTGAAG	T T	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0255	1	269	0.0037	-30	c.82- others(47): Show c.82-18215_82-18186delCTTCTATAACCTATTGCACTGCATGTGA AG		COL4A5	ENSG00000188153.14	transcript	ENST00000328300.11	protein_coding	1/52						chrX	TogoVar
COL5A1_chr9_134636803_134849843	134669212	TTTCCCTT others(23): Show TTTCCCTTCCCTTCCCTTCCCTTTCCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01993.hp1 HG02273.hp2 others(6): Show HG01433.hp1 HG01993.hp1 HG02273.hp2 HG02451.hp1 HG02572.hp1 HG02896.hp2 HG02897.hp2 NA19064.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0009 a0001c0002t0001 a0001c0002t0005 a0001c0003t0025 a0001c0005t0003 a0001c0005t0014	a0001c0001t0001g0041 a0001c0001t0002g0220 a0001c0001t0009g0233 others(6): Show a0001c0001t0001g0041 a0001c0001t0002g0220 a0001c0001t0009g0233 a0001c0002t0001g0058 a0001c0002t0005g0117 a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0005t0003g0265 a0001c0005t0014g0258	9	272	0.0331	-30	c.110 others(49): Show c.110-21677_110-21648delTCCTTCCCTTCCCTTCCCTTCCCTTC CCTT		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	1/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134712166	TCTTCTTC others(23): Show TCTTCTTCCTTTCCCCCCTCCTTCCTGCCCC	T T	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	272	0.0037	-30	c.654 others(49): Show c.654+10871_654+10900delCTTTCCCCCCTCCTTCCTGCCCCCTT CTTC		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	4/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL5A1_chr9_134636803_134849843	134751123	GCCCCGAG others(23): Show GCCCCGAGAGCGTGTCACTGTCCAGTAGGGA	G G	intron_variant intron_variant	MODIFIER	HG01256.hp2 NA19043.hp1 HG01256.hp2 NA19043.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0021 a0001c0001 a0003c0021	a0001c0001t0004 a0003c0021t0001 a0001c0001t0004 a0003c0021t0001	a0001c0001t0004g0102 a0003c0021t0001g0166 a0001c0001t0004g0102 a0003c0021t0001g0166	2	272	0.0074	-30	c.166 others(47): Show c.1662+340_1662+369delGCGTGTCACTGTCCAGTAGGGACCCCGA GA		COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding	13/65					INFO_REALIGN_3_PRIME	chr9	TogoVar
COL6A3_chr2_237319018_237419164	237332070	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01099.hp1 HG01255.hp2 others(29): Show HG01081.hp1 HG01099.hp1 HG01255.hp2 HG01346.hp1 HG01358.hp1 HG02056.hp2 HG02145.hp1 HG02280.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp1 HG02976.hp2 HG03041.hp2 HG03130.hp2 HG03516.hp2 HG03540.hp2 HG03942.hp1 HG04115.hp1 HG06807.hp1 NA19030.hp1	a0003 a0004 a0005 others(7): Show a0003 a0004 a0005 a0009 a0013 a0020 a0025 a0036 a0052 a0057	a0003c0031 a0003c0039 a0003c0089 others(17): Show a0003c0031 a0003c0039 a0003c0089 a0003c0121 a0004c0071 a0005c0008 a0005c0012 a0005c0090 a0005c0101 a0005c0111 a0009c0124 a0009c0126 a0013c0034 a0013c0053 a0013c0097 a0020c0127 a0025c0114 a0036c0137 a0052c0112 a0057c0099	a0003c0031t0004 a0003c0039t0001 a0003c0039t0003 others(21): Show a0003c0031t0004 a0003c0039t0001 a0003c0039t0003 a0003c0089t0001 a0003c0121t0003 a0004c0071t0004 a0005c0008t0001 a0005c0008t0005 a0005c0012t0002 a0005c0012t0003 a0005c0012t0004 a0005c0090t0003 a0005c0101t0003 a0005c0111t0003 a0009c0124t0003 a0009c0126t0004 a0013c0034t0005 a0013c0053t0004 a0013c0097t0002 a0020c0127t0004 a0025c0114t0001 a0036c0137t0003 a0052c0112t0002 a0057c0099t0004	a0003c0031t0004g0194 a0003c0031t0004g0196 a0003c0039t0001g0176 others(29): Show a0003c0031t0004g0194 a0003c0031t0004g0196 a0003c0039t0001g0176 a0003c0039t0003g0163 a0003c0089t0001g0116 a0003c0121t0003g0191 a0004c0071t0004g0178 a0005c0008t0001g0086 a0005c0008t0005g0083 a0005c0008t0005g0098 a0005c0008t0005g0100 a0005c0008t0005g0180 a0005c0008t0005g0181 a0005c0012t0002g0300 a0005c0012t0003g0132 a0005c0012t0003g0142 a0005c0012t0004g0117 a0005c0012t0004g0144 a0005c0090t0003g0122 a0005c0101t0003g0238 a0005c0111t0003g0118 a0009c0124t0003g0113 a0009c0126t0004g0179 a0013c0034t0005g0102 a0013c0034t0005g0103 a0013c0053t0004g0093 a0013c0097t0002g0107 a0020c0127t0004g0211 a0025c0114t0001g0121 a0036c0137t0003g0081 a0052c0112t0002g0143 a0057c0099t0004g0152	32	322	0.0994	-30	c.932 others(49): Show c.9328+1350_9328+1379delATATATATATATATATATATATATAT ATAT		COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	42/43						chr2	TogoVar
COL6A3_chr2_237319018_237419164	237343514	CAAAAAAA others(23): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp2 HG01943.hp2 others(16): Show HG00673.hp1 HG00673.hp2 HG01943.hp2 HG02074.hp2 HG02280.hp1 HG02717.hp2 HG02723.hp2 HG03130.hp1 HG03139.hp2 HG03209.hp1 HG03540.hp1 HG03688.hp1 HG03704.hp2 HG04204.hp2 NA18952.hp1 NA18995.hp1 NA19000.hp2 NA19002.hp1 NA19083.hp2	a0001 a0004 a0009 others(4): Show a0001 a0004 a0009 a0018 a0022 a0026 a0064	a0001c0014 a0001c0068 a0001c0087 others(10): Show a0001c0014 a0001c0068 a0001c0087 a0004c0003 a0004c0006 a0004c0016 a0004c0119 a0004c0140 a0009c0042 a0018c0020 a0022c0103 a0026c0035 a0064c0125	a0001c0014t0002 a0001c0068t0002 a0001c0087t0002 others(15): Show a0001c0014t0002 a0001c0068t0002 a0001c0087t0002 a0004c0003t0002 a0004c0003t0003 a0004c0006t0002 a0004c0006t0003 a0004c0016t0001 a0004c0016t0003 a0004c0119t0002 a0004c0140t0002 a0009c0042t0004 a0009c0042t0012 a0018c0020t0001 a0018c0020t0003 a0022c0103t0001 a0026c0035t0001 a0064c0125t0005	a0001c0014t0002g0129 a0001c0068t0002g0138 a0001c0087t0002g0148 others(16): Show a0001c0014t0002g0129 a0001c0068t0002g0138 a0001c0087t0002g0148 a0004c0003t0002g0234 a0004c0003t0003g0065 a0004c0006t0002g0041 a0004c0006t0002g0305 a0004c0006t0003g0278 a0004c0016t0001g0242 a0004c0016t0003g0095 a0004c0119t0002g0074 a0004c0140t0002g0205 a0009c0042t0004g0170 a0009c0042t0012g0172 a0018c0020t0001g0307 a0018c0020t0003g0054 a0022c0103t0001g0233 a0026c0035t0001g0189 a0064c0125t0005g0171	19	322	0.0590	-30	c.766 others(47): Show c.7668+806_7668+835delTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT		COL6A3	ENSG00000163359.17	transcript	ENST00000295550.9	protein_coding	36/43						chr2	TogoVar
COL6A6_chr3_130512177_130682042	130590279	ATATATAT others(23): Show ATATATATATATATATATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01891.hp2 HG02559.hp2 others(2): Show HG01243.hp1 HG01891.hp2 HG02559.hp2 HG03195.hp1 HG03453.hp2	a0003 a0004 a0013 others(1): Show a0003 a0004 a0013 a0021	a0003c0071 a0004c0029 a0013c0028 others(1): Show a0003c0071 a0004c0029 a0013c0028 a0021c0030	a0003c0071t0004 a0004c0029t0002 a0013c0028t0004 others(2): Show a0003c0071t0004 a0004c0029t0002 a0013c0028t0004 a0013c0028t0011 a0021c0030t0004	a0003c0071t0004g0200 a0004c0029t0002g0036 a0013c0028t0004g0199 others(2): Show a0003c0071t0004g0200 a0004c0029t0002g0036 a0013c0028t0004g0199 a0013c0028t0011g0244 a0021c0030t0004g0103	5	264	0.0189	-30	c.421 others(47): Show c.4219-760_4219-731delATATATATATATATATATATTTTTTTTT TT		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
COL6A6_chr3_130512177_130682042	130590283	ATATATAT others(23): Show ATATATATATATATATATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02074.hp1 HG02080.hp1 HG02129.hp1 others(6): Show HG02074.hp1 HG02080.hp1 HG02129.hp1 NA18983.hp2 NA19007.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp1 NA19083.hp1	a0003 a0007 a0010 others(2): Show a0003 a0007 a0010 a0015 a0023	a0003c0013 a0007c0017 a0007c0084 others(3): Show a0003c0013 a0007c0017 a0007c0084 a0010c0038 a0015c0037 a0023c0039	a0003c0013t0003 a0007c0017t0006 a0007c0084t0002 others(5): Show a0003c0013t0003 a0007c0017t0006 a0007c0084t0002 a0010c0038t0002 a0015c0037t0006 a0015c0037t0008 a0023c0039t0017 a0023c0039t0026	a0003c0013t0003g0262 a0007c0017t0006g0078 a0007c0084t0002g0083 others(6): Show a0003c0013t0003g0262 a0007c0017t0006g0078 a0007c0084t0002g0083 a0010c0038t0002g0077 a0010c0038t0002g0082 a0015c0037t0006g0081 a0015c0037t0008g0169 a0023c0039t0017g0101 a0023c0039t0026g0112	9	264	0.0341	-30	c.421 others(47): Show c.4219-756_4219-727delATATATATATATATATTTTTTTTTTTTT TT		COL6A6	ENSG00000206384.11	transcript	ENST00000358511.11	protein_coding	12/36					INFO_REALIGN_3_PRIME	chr3	TogoVar
COLEC12_chr18_311737_505701	419148	CTTCTATT others(23): Show CTTCTATTCTATTCTATTCTATTCTATTCTA	C C	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0013 a0003c0013	a0003c0013t0164 a0003c0013t0164	a0003c0013t0164g0247 a0003c0013t0164g0247	1	366	0.0027	-30	c.58+ others(47): Show c.58+61529_58+61558delTAGAATAGAATAGAATAGAATAGAATAG AA		COLEC12	ENSG00000158270.12	transcript	ENST00000400256.5	protein_coding	2/9						chr18	TogoVar
COPG2_chr7_130501238_130673748	130513345	GTGTGTGT others(23): Show GTGTGTGTGTGTGTGTATATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02486.hp1 HG02486.hp2 others(3): Show HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02717.hp1 HG02976.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0001 a0001c0002t0007 a0001c0002t0011 others(1): Show a0001c0001t0001 a0001c0002t0007 a0001c0002t0011 a0001c0005t0002	a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0002t0007g0236 others(3): Show a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0002t0007g0236 a0001c0002t0011g0240 a0001c0005t0002g0010 a0001c0005t0002g0011	6	326	0.0184	-30	c.215 others(49): Show c.2150-4716_2150-4687delTATATATATATATATACACACACACA CACA		COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	20/23						chr7	TogoVar
COPG2_chr7_130501238_130673748	130646958	CATATATA others(23): Show CATATATATATGTGTATATATATATGTATAT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(69): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00558.hp1 HG00639.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01256.hp2 HG01346.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG01891.hp2 HG01934.hp1 HG01943.hp1 HG01978.hp1 HG01993.hp1 HG02055.hp1 HG02109.hp2 HG02129.hp1 HG02155.hp1 HG02165.hp1 HG02258.hp2 HG02486.hp1 HG02683.hp1 HG02698.hp1 HG02809.hp1 HG02818.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03704.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18906.hp2 NA18945.hp2 NA18952.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp2 NA18963.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18978.hp1 NA18983.hp2 NA19003.hp1 NA19010.hp2 NA19030.hp2 NA19063.hp1 NA19064.hp1 NA19068.hp1 NA19079.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0002c0003 others(2): Show a0001c0001 a0001c0002 a0002c0003 a0003c0004 a0004c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0002t0001 a0001c0002t0007 a0001c0002t0011 a0002c0003t0001 a0003c0004t0001 a0004c0011t0001	a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 others(69): Show a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0002g0272 a0001c0001t0004g0267 a0001c0001t0004g0293 a0001c0001t0004g0308 a0001c0001t0004g0324 a0001c0001t0008g0318 a0001c0001t0008g0321 a0001c0001t0008g0322 a0001c0001t0010g0001 a0001c0002t0001g0241 a0001c0002t0007g0235 a0001c0002t0007g0236 a0001c0002t0007g0237 a0001c0002t0007g0238 a0001c0002t0007g0239 a0001c0002t0011g0240 a0002c0003t0001g0242 a0002c0003t0001g0243 a0002c0003t0001g0244 a0003c0004t0001g0277 a0003c0004t0001g0297 a0004c0011t0001g0280	72	326	0.2209	-30	c.323 others(47): Show c.323+5881_323+5910delATATACATATATATATACACATATATAT AT		COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	5/23						chr7	TogoVar
COPG2_chr7_130501238_130673748	130646983	GTATATAT others(23): Show GTATATATATATATGTGTATATATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02647.hp1 HG02886.hp2 others(1): Show HG02145.hp1 HG02647.hp1 HG02886.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0052 a0001c0002t0001g0063 a0001c0002t0001g0064 others(1): Show a0001c0002t0001g0052 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0065	4	326	0.0123	-30	c.323 others(47): Show c.323+5856_323+5885delTACATATATATATACACATATATATATA TA		COPG2	ENSG00000158623.14	transcript	ENST00000425248.5	protein_coding	5/23						chr7	TogoVar
COPS5_chr8_67038079_67067133	67041994	CACACACA others(23): Show CACACACACACACACACACACACACACACAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	292	0.0034	-30	c.12 others(41): Show c.1209_*1238delATGTGTGTGTGTGTGTGTGTGTGTGTGTGT		COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding					1084		chr8	TogoVar
COPS5_chr8_67038079_67067133	67056684	TATATATA others(23): Show TATATATATATATATATATATATATATAAAA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02809.hp2 HG02615.hp2 HG02809.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0025 a0001c0002t0001g0025	2	292	0.0069	-30	c.574 others(44): Show c.574-110_574-81delTTTTATATATATATATATATATATATATAT		COPS5	ENSG00000121022.14	transcript	ENST00000357849.9	protein_coding	4/7						chr8	TogoVar
COQ10B_chr2_197448552_197480310	197455127	TGGGTAGG others(23): Show TGGGTAGGCTGGGAGGCAATACATGAACCTG	T T	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02615.hp2 HG02723.hp1 others(1): Show HG02486.hp1 HG02615.hp2 HG02723.hp1 HG02818.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0010 a0001c0003t0001g0031 a0001c0003t0001g0032 a0001c0003t0001g0010 a0001c0003t0001g0031 a0001c0003t0001g0032	4	390	0.0103	-30	c.104 others(47): Show c.104+1465_104+1494delGGTAGGCTGGGAGGCAATACATGAACCT GG		COQ10B	ENSG00000115520.9	transcript	ENST00000263960.7	protein_coding	1/4					INFO_REALIGN_3_PRIME	chr2	TogoVar
COQ8A_chr1_226935294_226992544	226944720	AGAGAGAG others(23): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00621.hp1 others(31): Show HG00280.hp1 HG00323.hp1 HG00621.hp1 HG00741.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp2 HG01515.hp2 HG01891.hp1 HG01943.hp1 HG01978.hp2 HG02027.hp2 HG02074.hp2 HG02135.hp1 HG02148.hp1 HG02300.hp2 HG02723.hp2 HG02922.hp1 HG03098.hp2 HG03516.hp1 HG03831.hp2 NA18522.hp1 NA18940.hp1 NA18967.hp1 NA18967.hp2 NA18993.hp2 NA19000.hp2 NA19004.hp1 NA19055.hp2 NA19065.hp1 NA19083.hp2 NA19240.hp2 NA20752.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0003 a0001c0003t0003 a0001c0010t0010	a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0262 others(29): Show a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0262 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0047 a0001c0001t0002g0088 a0001c0001t0002g0253 a0001c0001t0002g0255 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0258 a0001c0001t0002g0259 a0001c0001t0002g0260 a0001c0001t0002g0261 a0001c0001t0002g0263 a0001c0001t0002g0356 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0089 a0001c0001t0004g0090 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0006g0093 a0001c0002t0003g0036 a0001c0003t0003g0058 a0001c0003t0003g0081 a0001c0003t0003g0082 a0001c0010t0010g0254	34	412	0.0825	-30	c.-10 others(47): Show c.-10+4335_-10+4364delAGAGAGAGAGAGAGAGTGAGAGAGAGAG AG		COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
COQ8A_chr1_226935294_226992544	226956696	TCTCCCTG others(23): Show TCTCCCTGGTTCACACTCTCCCTGGCTGCCA	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0091 a0001c0001t0004g0091	1	412	0.0024	-30	c.-9- others(45): Show c.-9-4624_-9-4595delGCCACTCCCTGGTTCACACTCTCCCTGGCT		COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	1/14					INFO_REALIGN_3_PRIME	chr1	TogoVar
CORO1A_chr16_30178602_30194076	30190212	ATATATTT others(23): Show ATATATTTTAATATATAAATATTATATATAT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18952.hp2 NA18952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	342	0.0029	-30	c.12 others(41): Show c.1249_*1278delTATATTTTAATATATAAATATTATATATAT		CORO1A	ENSG00000102879.17	transcript	ENST00000219150.10	protein_coding					1137		chr16	TogoVar
CORO2B_chr15_68573993_68732806	68650356	TAAAAAAA others(23): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	T T	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp2 HG00738.hp1 others(28): Show HG00280.hp2 HG00642.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01071.hp1 HG01099.hp2 HG01175.hp1 HG01243.hp1 HG01261.hp1 HG01433.hp1 HG01496.hp2 HG01516.hp2 HG01891.hp1 HG01978.hp2 HG02004.hp2 HG02145.hp2 HG02602.hp2 HG02698.hp2 HG02738.hp2 HG03471.hp1 HG03486.hp2 HG03942.hp2 HG04228.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp2 NA18960.hp1 NA18971.hp2 NA19088.hp1 homoSapiens_chm13v2.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0003c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0020 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0005t0002 a0001c0005t0003 a0003c0006t0002	a0001c0001t0001g0010 a0001c0001t0001g0129 a0001c0001t0002g0080 others(28): Show a0001c0001t0001g0010 a0001c0001t0001g0129 a0001c0001t0002g0080 a0001c0001t0002g0114 a0001c0001t0002g0234 a0001c0001t0003g0123 a0001c0001t0003g0215 a0001c0001t0003g0235 a0001c0001t0003g0244 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0005g0007 a0001c0001t0020g0203 a0001c0002t0001g0005 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0189 a0001c0002t0001g0218 a0001c0002t0002g0038 a0001c0002t0002g0044 a0001c0002t0002g0071 a0001c0002t0002g0116 a0001c0002t0002g0168 a0001c0002t0002g0224 a0001c0002t0002g0230 a0001c0002t0003g0006 a0001c0002t0003g0198 a0001c0002t0003g0256 a0001c0005t0002g0045 a0001c0005t0003g0109 a0003c0006t0002g0115	31	256	0.1211	-30	c.216 others(47): Show c.216+5017_216+5046delAAAAAAAAAAAAAAAAAAAAAAAAAAAA AA		CORO2B	ENSG00000103647.13	transcript	ENST00000261861.10	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr15	TogoVar
COX10_chr17_14064504_14213677	14210395	CTTTTTTT others(23): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00323.hp1 others(106): Show HG00099.hp2 HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00597.hp1 HG00639.hp1 HG00673.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01884.hp2 HG01934.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02027.hp1 HG02027.hp2 HG02071.hp2 HG02083.hp1 HG02135.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02486.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp2 HG02683.hp1 HG02698.hp2 HG02717.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp2 HG02970.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 HG03516.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp2 HG04115.hp2 HG04184.hp2 HG04204.hp2 NA18612.hp2 NA18906.hp2 NA18939.hp2 NA18944.hp1 NA18944.hp2 NA18948.hp1 NA18957.hp1 NA18959.hp1 NA18962.hp1 NA18968.hp2 NA18969.hp1 NA18974.hp2 NA18983.hp1 NA18995.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19056.hp1 NA19058.hp1 NA19060.hp2 NA19066.hp1 NA19075.hp1 NA19075.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp2 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA20129.hp2 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0011	a0001c0001 a0001c0003 a0001c0004 others(12): Show a0001c0001 a0001c0003 a0001c0004 a0001c0007 a0002c0002 a0002c0005 a0002c0006 a0002c0008 a0002c0015 a0003c0009 a0003c0010 a0003c0014 a0003c0017 a0004c0019 a0011c0022	a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 others(34): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0011 a0001c0001t0019 a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0006 a0001c0003t0015 a0001c0004t0001 a0001c0004t0002 a0001c0007t0001 a0001c0007t0004 a0001c0007t0008 a0001c0007t0010 a0002c0002t0001 a0002c0002t0002 a0002c0005t0004 a0002c0005t0005 a0002c0005t0008 a0002c0006t0001 a0002c0006t0004 a0002c0006t0005 a0002c0008t0001 a0002c0008t0002 a0002c0008t0024 a0002c0015t0001 a0003c0009t0001 a0003c0009t0006 a0003c0010t0001 a0003c0010t0006 a0003c0010t0018 a0003c0014t0006 a0003c0017t0004 a0004c0019t0001 a0011c0022t0002	a0001c0001t0003g0104 a0001c0001t0003g0154 a0001c0001t0004g0111 others(106): Show a0001c0001t0003g0104 a0001c0001t0003g0154 a0001c0001t0004g0111 a0001c0001t0004g0117 a0001c0001t0004g0127 a0001c0001t0004g0157 a0001c0001t0004g0158 a0001c0001t0005g0159 a0001c0001t0005g0289 a0001c0001t0011g0312 a0001c0001t0011g0313 a0001c0001t0011g0314 a0001c0001t0019g0277 a0001c0003t0001g0078 a0001c0003t0002g0007 a0001c0003t0002g0008 a0001c0003t0002g0010 a0001c0003t0002g0021 a0001c0003t0002g0022 a0001c0003t0002g0023 a0001c0003t0002g0026 a0001c0003t0002g0100 a0001c0003t0002g0101 a0001c0003t0002g0110 a0001c0003t0002g0118 a0001c0003t0002g0153 a0001c0003t0002g0166 a0001c0003t0002g0288 a0001c0003t0002g0315 a0001c0003t0005g0122 a0001c0003t0005g0123 a0001c0003t0006g0102 a0001c0003t0006g0112 a0001c0003t0015g0113 a0001c0004t0001g0291 a0001c0004t0002g0011 a0001c0004t0002g0073 a0001c0004t0002g0077 a0001c0007t0001g0276 a0001c0007t0001g0293 a0001c0007t0004g0074 a0001c0007t0004g0121 a0001c0007t0004g0162 a0001c0007t0008g0114 a0001c0007t0010g0316 a0001c0007t0010g0317 a0001c0007t0010g0318 a0002c0002t0001g0222 a0002c0002t0001g0245 a0002c0002t0001g0262 a0002c0002t0001g0270 a0002c0002t0001g0275 a0002c0002t0002g0178 a0002c0002t0002g0256 a0002c0002t0002g0304 a0002c0005t0004g0182 a0002c0005t0004g0206 a0002c0005t0004g0207 a0002c0005t0004g0215 a0002c0005t0004g0228 a0002c0005t0004g0229 a0002c0005t0004g0230 a0002c0005t0004g0236 a0002c0005t0004g0237 a0002c0005t0004g0238 a0002c0005t0004g0239 a0002c0005t0004g0261 a0002c0005t0004g0280 a0002c0005t0005g0198 a0002c0005t0008g0246 a0002c0006t0001g0308 a0002c0006t0004g0175 a0002c0006t0004g0176 a0002c0006t0004g0180 a0002c0006t0004g0188 a0002c0006t0004g0204 a0002c0006t0004g0205 a0002c0006t0004g0223 a0002c0006t0004g0224 a0002c0006t0004g0226 a0002c0006t0004g0227 a0002c0006t0004g0241 a0002c0006t0004g0258 a0002c0006t0004g0266 a0002c0006t0005g0303 a0002c0008t0001g0181 a0002c0008t0001g0184 a0002c0008t0001g0219 a0002c0008t0001g0221 a0002c0008t0001g0278 a0002c0008t0002g0233 a0002c0008t0024g0306 a0002c0015t0001g0279 a0003c0009t0001g0094 a0003c0009t0006g0097 a0003c0010t0001g0082 a0003c0010t0001g0091 a0003c0010t0001g0098 a0003c0010t0006g0083 a0003c0010t0006g0086 a0003c0010t0006g0087 a0003c0010t0006g0089 a0003c0010t0006g0092 a0003c0010t0018g0093 a0003c0014t0006g0037 a0003c0017t0004g0084 a0003c0017t0004g0085 a0004c0019t0001g0058 a0011c0022t0002g0004	109	322	0.3385	-30	c.31 others(41): Show c.3183_*3212delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT		COX10	ENSG00000006695.12	transcript	ENST00000261643.8	protein_coding					1719		chr17	TogoVar
COX16_chr14_70320081_70364683	70330421	TTGCCAGT others(23): Show TTGCCAGTGAATTCTCCCAAGGAAGAAATAA	T T	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03486.hp1 HG02615.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0125 a0001c0001t0001g0126	2	376	0.0053	-30	c.142 others(47): Show c.142-1215_142-1186delTTATTTCTTCCTTGGGAGAATTCACTGG CA		COX16	ENSG00000133983.16	transcript	ENST00000389912.7	protein_coding	2/3						chr14	TogoVar
CPA6_chr8_67417038_67751360	67607169	CTCTTCTT others(23): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03130.hp1 HG03491.hp1 others(1): Show HG02615.hp2 HG03130.hp1 HG03491.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0002c0002 a0006c0009 a0001c0001 a0002c0002 a0006c0009	a0001c0001t0001 a0002c0002t0001 a0006c0009t0004 a0001c0001t0001 a0002c0002t0001 a0006c0009t0004	a0001c0001t0001g0062 a0001c0001t0001g0116 a0002c0002t0001g0061 others(1): Show a0001c0001t0001g0062 a0001c0001t0001g0116 a0002c0002t0001g0061 a0006c0009t0004g0111	4	144	0.0278	-30	c.192 others(49): Show c.192+16977_192+17006delAGAAGAAGAAGAAGAAGAAGAAGAAG AAGA		CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10						chr8	TogoVar
CPED1_chr7_120983711_121302442	121047646	TTTCTTCT others(23): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTCTTC	T T	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp2 HG04184.hp1 HG04184.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0011 a0001c0001t0001 a0002c0002t0011	a0001c0001t0001g0085 a0002c0002t0011g0136 a0001c0001t0001g0085 a0002c0002t0011g0136	2	140	0.0143	-30	c.540 others(45): Show c.540+695_540+724delCTTCTTCTTCTTCTTCTTCTTCTTCTTCTT		CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	4/22					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121098737	TATATATA others(23): Show TATATATAAAAATATATAAAAATATATATAA	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG02486.hp1 HG02965.hp1 HG01070.hp1 HG02486.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0005g0018 a0001c0001t0001g0043 a0001c0001t0001g0061 a0001c0001t0005g0018	3	140	0.0214	-30	c.749 others(45): Show c.749+914_749+943delAAAATATATAAAAATATATATAAATATATA		CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	6/22					INFO_REALIGN_3_PRIME	chr7	TogoVar
CPHXL_chr16_75709131_75731490	75729796	TTTTTTTT others(23): Show TTTTTTTTTTTTCAGATGGAGTCTTGCTCTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	388	0.0026	-30	c.-33 others(41): Show c.-3384_-3355delCAGAGCAAGACTCCATCTGAAAAAAAAAAA		CPHXL	ENSG00000283755.2	transcript	ENST00000640559.2	protein_coding					3307		chr16	TogoVar
CPLANE1_chr5_37101235_37254376	37245297	CTATATAT others(23): Show CTATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	NA18960.hp1 NA18991.hp1 NA18960.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0168 a0001c0001t0001g0083 a0001c0001t0001g0168	2	268	0.0075	-30	c.337 others(45): Show c.337+152_337+181delTATATATATATATATATATATATATATATA		CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	4/52						chr5	TogoVar
CPLX1_chr4_779957_831129	826312	CCGGGGCG others(23): Show CCGGGGCGGGGGCGGGGGGTGGACCCGGGGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp1 NA19058.hp1 NA19083.hp1 HG03516.hp1 NA19058.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0006g0035 a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0006g0035	3	416	0.0072	-30	c.-37 others(39): Show c.-376_-347delCCCCCGGGTCCACCCCCCGCCCCCGCCCCG		CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding					184		chr4	TogoVar
CPLX1_chr4_779957_831129	826345	GGGGCGGG others(23): Show GGGGCGGGGGGCGGGGGCGGGGGGCGGACCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0382 a0001c0001t0003g0382	1	416	0.0024	-30	c.-40 others(39): Show c.-409_-380delGGGTCCGCCCCCCGCCCCCGCCCCCCGCCC		CPLX1	ENSG00000168993.15	transcript	ENST00000304062.11	protein_coding					217		chr4	TogoVar
CPLX2_chr5_175866578_175889021	175871410	GGAGAGAG others(23): Show GGAGAGAGAGAGAGAGAGAGAGACAGAGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0062 a0001c0001t0062	a0001c0001t0062g0023 a0001c0001t0062g0023	1	378	0.0027	-30	c.-38 others(39): Show c.-383_-354delGAGAGAGAGAGAGAGAGAGAGACAGAGAGA		CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding					167		chr5	TogoVar
CPNE1_chr20_35621044_35669900	35653332	CTGGGCAG others(23): Show CTGGGCAGTCCCACACCGGGCAGTCCCGCAT	C C	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0114 a0002c0002t0001g0114	1	272	0.0037	-30	c.-1+ others(47): Show c.-1+11398_-1+11427delATGCGGGACTGCCCGGTGTGGGACTGCC CA		CPNE1	ENSG00000214078.13	transcript	ENST00000397443.7	protein_coding	1/15						chr20	TogoVar
CPNE4_chr3_131528569_132040014	131580388	CTATACAT others(23): Show CTATACATATACATATACATATACATATACA	C C	intron_variant intron_variant	MODIFIER	HG02647.hp2 NA19030.hp2 homoSapiens_chm13v2.hp1 HG02647.hp2 NA19030.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0013g0017 a0001c0001t0001g0051 a0001c0001t0001g0058 a0001c0001t0013g0017	3	94	0.0319	-30	c.867 others(47): Show c.867+1161_867+1190delTGTATATGTATATGTATATGTATATGTA TA		CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	9/15						chr3	TogoVar
CPQ_chr8_96640242_97148501	96880518	CATATATA others(23): Show CATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG02615.hp2 HG03927.hp1 HG01081.hp2 HG02615.hp2 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0001t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0001g0110 a0001c0001t0002g0044 a0001c0002t0001g0069 a0001c0001t0001g0110 a0001c0001t0002g0044 a0001c0002t0001g0069	3	126	0.0238	-30	c.849 others(45): Show c.849+543_849+572delTATATATATATATATATATATATATATATA		CPQ	ENSG00000104324.16	transcript	ENST00000220763.10	protein_coding	4/7					INFO_REALIGN_3_PRIME	chr8	TogoVar
CPSF6_chr12_69234569_69279358	69236234	ATAGCATA others(23): Show ATAGCATATATATTATATATTAAAATATATG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 HG01192.hp1 HG01934.hp1 others(42): Show HG00544.hp2 HG01192.hp1 HG01934.hp1 HG01952.hp1 HG01978.hp1 HG02040.hp1 HG02080.hp1 HG02145.hp1 HG02683.hp1 HG02735.hp2 HG03491.hp1 HG03834.hp1 HG03927.hp2 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp1 NA18747.hp2 NA18906.hp1 NA18948.hp1 NA18950.hp1 NA18954.hp1 NA18956.hp2 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18963.hp1 NA18970.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp2 NA18986.hp2 NA18988.hp1 NA18991.hp1 NA19004.hp1 NA19006.hp1 NA19009.hp2 NA19011.hp1 NA19074.hp1 NA19078.hp1 NA19080.hp1 NA19082.hp2 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 others(11): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0010 a0001c0001t0015 a0001c0001t0034 a0001c0001t0040 a0001c0001t0042 a0001c0001t0043 a0001c0001t0067 a0001c0001t0083 a0001c0001t0085 a0001c0001t0086 a0001c0001t0090	a0001c0001t0003g0001 a0001c0001t0003g0020 a0001c0001t0003g0024 others(26): Show a0001c0001t0003g0001 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0071 a0001c0001t0003g0074 a0001c0001t0003g0223 a0001c0001t0004g0073 a0001c0001t0008g0001 a0001c0001t0008g0024 a0001c0001t0008g0072 a0001c0001t0008g0075 a0001c0001t0010g0001 a0001c0001t0010g0023 a0001c0001t0010g0065 a0001c0001t0015g0001 a0001c0001t0034g0001 a0001c0001t0034g0094 a0001c0001t0040g0077 a0001c0001t0040g0082 a0001c0001t0042g0001 a0001c0001t0042g0079 a0001c0001t0043g0022 a0001c0001t0067g0001 a0001c0001t0083g0025 a0001c0001t0085g0080 a0001c0001t0086g0068 a0001c0001t0090g0001	45	392	0.1148	-30	c.-34 others(41): Show c.-3412_-3383delTAGCATATATATTATATATTAAAATATATG		CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding					3334		chr12	TogoVar
CPSF6_chr12_69234569_69279358	69236324	GTAGCATA others(23): Show GTAGCATATATATTATATATTAAAATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0189 a0001c0001t0002g0189	1	392	0.0026	-30	c.-33 others(41): Show c.-3322_-3293delTAGCATATATATTATATATTAAAATATATA		CPSF6	ENSG00000111605.18	transcript	ENST00000435070.7	protein_coding					3244		chr12	TogoVar
CPT2_chr1_53191824_53219197	53210928	GCTGACTG others(23): Show GCTGACTGATGCCTTAAAGACTGGCATCACA	G G	conservative_inframe_deletion conservative_inframe_deletion	MODERATE	HG03139.hp2 HG03139.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0078 a0007c0014t0001g0078	1	386	0.0026	-30	c.125 others(39): Show c.1255_1284delCTGACTGATGCCTTAAAGACTGGCATCACA	p.Leu others(13): Show p.Leu419_Thr428del	CPT2	ENSG00000157184.7	transcript	ENST00000371486.4	protein_coding	4/5	1375/2699	1255/1977	419/658			chr1	TogoVar
CR1_chr1_207491157_207646765	207617590	TATATATA others(23): Show TATATATATATATATATATATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02080.hp1 HG04199.hp2 others(1): Show HG02027.hp2 HG02080.hp1 HG04199.hp2 NA18944.hp2	a0002 a0004 a0008 a0002 a0004 a0008	a0002c0002 a0004c0004 a0008c0045 a0002c0002 a0004c0004 a0008c0045	a0002c0002t0001 a0004c0004t0001 a0008c0045t0001 a0002c0002t0001 a0004c0004t0001 a0008c0045t0001	a0002c0002t0001g0168 a0002c0002t0001g0193 a0004c0004t0001g0172 others(1): Show a0002c0002t0001g0168 a0002c0002t0001g0193 a0004c0004t0001g0172 a0008c0045t0001g0096	4	360	0.0111	-30	c.689 others(47): Show c.6890-479_6890-450delTATATATATATATATATATATAGAGAGA GA		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46					INFO_REALIGN_3_PRIME	chr1	TogoVar
CR1_chr1_207491157_207646765	207617592	TATATATA others(23): Show TATATATATATATATATATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01261.hp2 HG01358.hp2 others(9): Show HG00738.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp1 HG02602.hp2 HG03239.hp2 HG03490.hp2 HG03710.hp2 NA18971.hp1 NA18980.hp2 NA19001.hp2 NA20752.hp2	a0002 a0008 a0009 others(1): Show a0002 a0008 a0009 a0016	a0002c0002 a0002c0043 a0008c0017 others(2): Show a0002c0002 a0002c0043 a0008c0017 a0009c0007 a0016c0015	a0002c0002t0001 a0002c0002t0002 a0002c0002t0022 others(4): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0022 a0002c0043t0001 a0008c0017t0002 a0009c0007t0001 a0016c0015t0001	a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0212 others(9): Show a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0212 a0002c0002t0001g0309 a0002c0002t0002g0009 a0002c0002t0022g0007 a0002c0043t0001g0100 a0008c0017t0002g0344 a0009c0007t0001g0202 a0009c0007t0001g0357 a0016c0015t0001g0183 a0016c0015t0001g0317	12	360	0.0333	-30	c.689 others(47): Show c.6890-477_6890-448delTATATATATATATATATATAGAGAGAGA GA		CR1	ENSG00000203710.12	transcript	ENST00000367049.9	protein_coding	41/46					INFO_REALIGN_3_PRIME	chr1	TogoVar

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