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
CNTN1_chr12_40687439_41077415	40925579	GTATATAT others(41): Show GTATATATACATGTATATATATATATACGTGTATATATATATATACACA	G G	intron_variant intron_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0216 a0001c0001t0004g0216	1	230	0.0044	-48	c.496 others(63): Show c.496+936_496+983delCATGTATATATATATATACGTGTATATATA TATATACACATATATATA	CNTN1	ENSG00000018236.15	transcript	ENST00000551295.7	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr12	TogoVar
CNTN4_chr3_2093866_3062959	2287693	GGAAGAAG others(41): Show GGAAGAAGAAGAAGAAGAGGAAGAAGAAGAAGAAGAAGAAGAAGAAGAA	G G	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0016 a0001c0007t0016	a0001c0007t0016g0105 a0001c0007t0016g0105	1	116	0.0086	-48	c.-14 others(69): Show c.-144-51467_-144-51420delGGAAGAAGAAGAAGAAGAAGAAGA AGAAGAAGAAGAAGAAGAAGAAGA	CNTN4	ENSG00000144619.15	transcript	ENST00000418658.6	protein_coding	2/24		INFO_REALIGN_3_PRIME	chr3	TogoVar
CNTNAP2_chr7_146111801_148425998	146721776	TCTATATA others(41): Show TCTATATATAGTCTACATATATAGACTATATATAGTCTATATATGTAGA	T T	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0040 a0001c0002t0002g0040	1	40	0.0250	-48	c.98- others(65): Show c.98-52480_98-52433delCATATATAGACTATATATAGTCTATATA TGTAGACTATATATAGTCTA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
CNTNAP2_chr7_146111801_148425998	147618664	TATATATA others(41): Show TATATATAATAACAGCTATTATATATATATAATAACAGCTATTATACAC	T T	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02922.hp2 HG03139.hp1 others(4): Show HG02896.hp1 HG02922.hp2 HG03139.hp1 HG03139.hp2 HG03225.hp1 HG03540.hp1 NA18522.hp1	a0001 a0005 a0001 a0005	a0001c0002 a0001c0004 a0001c0008 others(4): Show a0001c0002 a0001c0004 a0001c0008 a0001c0009 a0001c0011 a0001c0013 a0005c0020	a0001c0002t0010 a0001c0004t0005 a0001c0008t0001 others(4): Show a0001c0002t0010 a0001c0004t0005 a0001c0008t0001 a0001c0009t0019 a0001c0011t0016 a0001c0013t0003 a0005c0020t0005	a0001c0002t0010g0002 a0001c0004t0005g0004 a0001c0008t0001g0025 others(4): Show a0001c0002t0010g0002 a0001c0004t0005g0004 a0001c0008t0001g0025 a0001c0009t0019g0027 a0001c0011t0016g0019 a0001c0013t0003g0039 a0005c0020t0005g0016	7	40	0.1750	-48	c.189 others(69): Show c.1898-20440_1898-20393delTATATAATAACAGCTATTATATAT ATATAATAACAGCTATTATACACA	CNTNAP2	ENSG00000174469.23	transcript	ENST00000361727.8	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
COG1_chr17_73188055_73213507	73192850	GCCCCCTC others(41): Show GCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp2 HG01433.hp1 HG02630.hp1 others(5): Show HG00735.hp2 HG01433.hp1 HG02630.hp1 HG02683.hp2 HG03017.hp1 HG03654.hp2 HG03927.hp1 NA19006.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0002 a0002c0001t0001g0005 a0002c0001t0001g0017 others(2): Show a0002c0001t0001g0002 a0002c0001t0001g0005 a0002c0001t0001g0017 a0002c0001t0001g0077 a0002c0001t0001g0086	8	428	0.0187	-48	c.-21 others(57): Show c.-219_-172delCCCCCTCGCGCCCGCCCCCTCGCGCCCGCCCCCTCG CGCCCGCCCCCT	COG1	ENSG00000166685.13	transcript	ENST00000299886.9	protein_coding		204		chr17	TogoVar
COL13A1_chr10_69796906_69964144	69936080	GGAGGGAG others(41): Show GGAGGGAGGGAAGGAGGGAAGGGAGGAAGGAAGGAAGGAAGGAAGGAAA	G G	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02486.hp2 HG02451.hp1 HG02486.hp2	a0002 a0002	a0002c0005 a0002c0008 a0002c0005 a0002c0008	a0002c0005t0003 a0002c0008t0001 a0002c0005t0003 a0002c0008t0001	a0002c0005t0003g0321 a0002c0008t0001g0110 a0002c0005t0003g0321 a0002c0008t0001g0110	2	324	0.0062	-48	c.177 others(65): Show c.1771-673_1771-626delGGGAGGGAAGGAGGGAAGGGAGGAAGGA AGGAAGGAAGGAAGGAAAGA	COL13A1	ENSG00000197467.17	transcript	ENST00000645393.2	protein_coding	32/40		INFO_REALIGN_3_PRIME	chr10	TogoVar
COL19A1_chr6_69861556_70217468	69921700	ATATATTC others(41): Show ATATATTCGTATGTAGATTCGTATATATTCGTATGTAGATTCGTATATG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01106.hp1 HG01256.hp1 others(17): Show HG00099.hp2 HG01106.hp1 HG01256.hp1 HG01515.hp1 HG02258.hp1 HG02451.hp2 HG02572.hp1 HG02602.hp2 HG02886.hp2 HG02970.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03209.hp1 HG03453.hp2 HG03471.hp1 HG06807.hp1 NA19030.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0007	a0001c0001 a0001c0002 a0001c0005 others(6): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003 a0002c0004 a0002c0006 a0002c0009 a0004c0018 a0007c0022	a0001c0001t0001 a0001c0001t0022 a0001c0002t0001 others(13): Show a0001c0001t0001 a0001c0001t0022 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0005t0010 a0002c0003t0002 a0002c0003t0011 a0002c0003t0039 a0002c0004t0001 a0002c0004t0011 a0002c0004t0016 a0002c0006t0003 a0002c0009t0014 a0004c0018t0025 a0007c0022t0003	a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0022g0069 others(17): Show a0001c0001t0001g0118 a0001c0001t0001g0166 a0001c0001t0022g0069 a0001c0002t0001g0073 a0001c0002t0002g0059 a0001c0002t0008g0160 a0001c0005t0010g0074 a0002c0003t0002g0175 a0002c0003t0011g0115 a0002c0003t0039g0127 a0002c0004t0001g0116 a0002c0004t0001g0117 a0002c0004t0001g0161 a0002c0004t0011g0111 a0002c0004t0016g0112 a0002c0006t0003g0162 a0002c0006t0003g0163 a0002c0009t0014g0012 a0004c0018t0025g0114 a0007c0022t0003g0113	20	182	0.1099	-48	c.267 others(65): Show c.267-6183_267-6136delATTCGTATGTAGATTCGTATATGTATAT TCGTATGTAGATTCGTATAT	COL19A1	ENSG00000082293.13	transcript	ENST00000620364.5	protein_coding	4/50		INFO_REALIGN_3_PRIME	chr6	TogoVar
COL20A1_chr20_63288186_63339806	63306165	AGGAAGTT others(41): Show AGGAAGTTCTTCCTCGTGTCTGACCACACGGTCTCTGACCACGAGGCCG	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0014 a0014	a0014c0021 a0014c0021	a0014c0021t0003 a0014c0021t0003	a0014c0021t0003g0217 a0014c0021t0003g0217	1	290	0.0035	-48	c.496 others(63): Show c.496+307_496+354delACCACGAGGCCGGGAAGTTCTTCCTCGTGT CTGACCACACGGTCTCTG	COL20A1	ENSG00000101203.17	transcript	ENST00000358894.11	protein_coding	5/35		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL23A1_chr5_178232618_178595393	178294413	TCCCAAAT others(41): Show TCCCAAATCACTACCCAGCTCCCTCCCCAAATCACTACCGAGCTCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0211 a0002c0003t0002g0211	1	236	0.0042	-48	c.407 others(65): Show c.407-4092_407-4045delGAGGGAGCTCGGTAGTGATTTGGGGAGG GAGCTGGGTAGTGATTTGGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	3/28			chr5	TogoVar
COL23A1_chr5_178232618_178595393	178362905	CCCCACAG others(41): Show CCCCACAGCAACCCACCCCCACAGCAACCCACCCCCACAGCAATCCACT	C C	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0003 a0004c0006t0003	a0004c0006t0003g0139 a0004c0006t0003g0139	1	236	0.0042	-48	c.362 others(67): Show c.362-56034_362-55987delAGTGGATTGCTGTGGGGGTGGGTTGC TGTGGGGGTGGGTTGCTGTGGG	COL23A1	ENSG00000050767.18	transcript	ENST00000390654.8	protein_coding	2/28			chr5	TogoVar
COL26A1_chr7_101357875_101564024	101450744	TTCTATAT others(41): Show TTCTATATGAATATGAATTCCATAGTCTATATGAATATGAATTCCATAG	T T	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02896.hp2 HG03516.hp1 HG02647.hp1 HG02896.hp2 HG03516.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0004 a0001c0001 a0001c0002 a0002c0004	a0001c0001t0002 a0001c0002t0020 a0002c0004t0001 a0001c0001t0002 a0001c0002t0020 a0002c0004t0001	a0001c0001t0002g0174 a0001c0002t0020g0001 a0002c0004t0001g0138 a0001c0001t0002g0174 a0001c0002t0020g0001 a0002c0004t0001g0138	3	174	0.0172	-48	c.385 others(65): Show c.385+3020_385+3067delAATTCCATAGTCTATATGAATATGAATT CCATAGTCTATATGAATATG	COL26A1	ENSG00000160963.14	transcript	ENST00000313669.12	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr7	TogoVar
COL4A4_chr2_226997714_227169205	227041767	GAAGGAAG others(41): Show GAAGGAAGGAAGGAAGGAAGGGAAAGAAAGAAAGAAAGGAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0135 a0001c0001t0001g0135	1	284	0.0035	-48	c.350 others(65): Show c.3505+333_3505+380delTTTCTTTCTTCCTTTCTTTCTTTCTTTC CCTTCCTTCCTTCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL4A4_chr2_226997714_227169205	227041779	GAAGGAAG others(41): Show GAAGGAAGGGAAAGAAAGAAAGAAAGGAAGAAAGAAAGAAAGAAAGAAA	G G	intron_variant intron_variant	MODIFIER	NA18971.hp2 NA19082.hp2 NA18971.hp2 NA19082.hp2	a0001 a0009 a0001 a0009	a0001c0001 a0009c0009 a0001c0001 a0009c0009	a0001c0001t0001 a0009c0009t0001 a0001c0001t0001 a0009c0009t0001	a0001c0001t0001g0111 a0009c0009t0001g0083 a0001c0001t0001g0111 a0009c0009t0001g0083	2	284	0.0070	-48	c.350 others(65): Show c.3505+321_3505+368delTTTCTTTCTTTCTTTCTTTCTTCCTTTC TTTCTTTCTTTCCCTTCCTT	COL4A4	ENSG00000081052.14	transcript	ENST00000396625.5	protein_coding	37/47			chr2	TogoVar
COL5A1_chr9_134636803_134849843	134848780	TGATCACA others(41): Show TGATCACACCTCCCAGGAAGCACAGGATCACACCTCCCAGGAAGCACGG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp2 HG02809.hp2 HG02896.hp2 others(1): Show HG00735.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0006 a0001c0001 a0001c0003 a0001c0006	a0001c0001t0007 a0001c0003t0025 a0001c0006t0007 a0001c0001t0007 a0001c0003t0025 a0001c0006t0007	a0001c0001t0007g0215 a0001c0003t0025g0043 a0001c0003t0025g0218 others(1): Show a0001c0001t0007g0215 a0001c0003t0025g0043 a0001c0003t0025g0218 a0001c0006t0007g0103	4	272	0.0147	-48	c.64 others(59): Show c.6478_*6525delGATCACACCTCCCAGGAAGCACAGGATCACACCT CCCAGGAAGCACGG	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		3938		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134848922	CGGGATCA others(41): Show CGGGATCACACCTCCCAGGGAGCACGGGATCACACCTCCCAGGGAGCAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG02647.hp2 NA18967.hp2 HG00609.hp1 HG02647.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0007 a0001c0001 a0001c0003 a0001c0007	a0001c0001t0002 a0001c0003t0002 a0001c0007t0023 a0001c0001t0002 a0001c0003t0002 a0001c0007t0023	a0001c0001t0002g0122 a0001c0003t0002g0246 a0001c0007t0023g0232 a0001c0001t0002g0122 a0001c0003t0002g0246 a0001c0007t0023g0232	3	272	0.0110	-48	c.66 others(59): Show c.6620_*6667delGGGATCACACCTCCCAGGGAGCACGGGATCACAC CTCCCAGGGAGCAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4080		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849037	GAGCACCG others(41): Show GAGCACCGGATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	272	0.0037	-48	c.67 others(59): Show c.6735_*6782delAGCACCGGATCACACCTCCCAGGAACCACGATAT CACACCTCCCAGGA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4195		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849043	CGGATCAC others(41): Show CGGATCACACCTCCCAGGAACCACGATATCACACCTCCCAGGAAGCACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG02055.hp2 HG02258.hp1 others(10): Show HG00642.hp2 HG02055.hp2 HG02258.hp1 HG02559.hp2 HG02723.hp2 HG02896.hp1 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03540.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 others(6): Show a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0010 a0001c0019 a0001c0039 a0001c0047 a0001c0060	a0001c0003t0004 a0001c0005t0001 a0001c0006t0004 others(8): Show a0001c0003t0004 a0001c0005t0001 a0001c0006t0004 a0001c0006t0048 a0001c0007t0001 a0001c0007t0004 a0001c0010t0026 a0001c0019t0001 a0001c0039t0004 a0001c0047t0003 a0001c0060t0004	a0001c0003t0004g0262 a0001c0003t0004g0266 a0001c0005t0001g0107 others(10): Show a0001c0003t0004g0262 a0001c0003t0004g0266 a0001c0005t0001g0107 a0001c0006t0004g0011 a0001c0006t0004g0184 a0001c0006t0048g0047 a0001c0007t0001g0195 a0001c0007t0004g0028 a0001c0010t0026g0049 a0001c0019t0001g0214 a0001c0039t0004g0197 a0001c0047t0003g0032 a0001c0060t0004g0240	13	272	0.0478	-48	c.67 others(59): Show c.6741_*6788delGGATCACACCTCCCAGGAACCACGATATCACACC TCCCAGGAAGCACA	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4201		chr9	TogoVar
COL5A1_chr9_134636803_134849843	134849261	GATCACAC others(41): Show GATCACACCTCCCAGGAAGCACGGGATCACACCTCCCAGGAACCACAAT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0049 a0001c0049	a0001c0049t0003 a0001c0049t0003	a0001c0049t0003g0183 a0001c0049t0003g0183	1	272	0.0037	-48	c.69 others(59): Show c.6959_*7006delATCACACCTCCCAGGAAGCACGGGATCACACCTC CCAGGAACCACAAT	COL5A1	ENSG00000130635.17	transcript	ENST00000371817.8	protein_coding		4419		chr9	TogoVar
COL5A3_chr19_9954561_10015504	9983529	GAAGAAAG others(41): Show GAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp2 HG00642.hp1 others(61): Show HG00408.hp1 HG00597.hp2 HG00642.hp1 HG00733.hp1 HG00738.hp2 HG01070.hp2 HG01081.hp2 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01261.hp2 HG01934.hp1 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02056.hp1 HG02155.hp1 HG02155.hp2 HG02280.hp2 HG02300.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp2 HG02723.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02976.hp2 HG03098.hp1 HG03239.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03710.hp1 HG03831.hp2 HG04204.hp1 NA18939.hp1 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18957.hp2 NA18959.hp2 NA18960.hp1 NA18964.hp1 NA18965.hp1 NA18969.hp1 NA18979.hp2 NA18983.hp2 NA18987.hp2 NA18990.hp2 NA19002.hp1 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19056.hp2 NA19064.hp2 NA19066.hp1 NA19067.hp2 NA19070.hp2	a0002 a0005 a0007 others(13): Show a0002 a0005 a0007 a0016 a0019 a0031 a0037 a0039 a0046 a0047 a0051 a0052 a0053 a0063 a0068 a0073	a0002c0002 a0002c0020 a0002c0034 others(23): Show a0002c0002 a0002c0020 a0002c0034 a0002c0041 a0002c0053 a0002c0126 a0002c0130 a0002c0139 a0005c0029 a0007c0021 a0007c0032 a0016c0037 a0016c0074 a0019c0028 a0019c0069 a0031c0043 a0037c0046 a0039c0067 a0046c0075 a0047c0133 a0051c0127 a0052c0128 a0053c0129 a0063c0134 a0068c0101 a0073c0096	a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 others(28): Show a0002c0002t0001 a0002c0002t0002 a0002c0002t0005 a0002c0020t0001 a0002c0020t0002 a0002c0034t0002 a0002c0041t0001 a0002c0053t0001 a0002c0126t0001 a0002c0130t0001 a0002c0139t0002 a0005c0029t0001 a0007c0021t0008 a0007c0032t0007 a0007c0032t0008 a0016c0037t0002 a0016c0074t0002 a0019c0028t0001 a0019c0069t0002 a0031c0043t0006 a0031c0043t0007 a0037c0046t0003 a0039c0067t0002 a0046c0075t0007 a0047c0133t0001 a0051c0127t0003 a0052c0128t0001 a0053c0129t0006 a0063c0134t0001 a0068c0101t0004 a0073c0096t0002	a0002c0002t0001g0069 a0002c0002t0001g0313 a0002c0002t0001g0315 others(60): Show a0002c0002t0001g0069 a0002c0002t0001g0313 a0002c0002t0001g0315 a0002c0002t0001g0319 a0002c0002t0002g0078 a0002c0002t0002g0218 a0002c0002t0002g0285 a0002c0002t0002g0309 a0002c0002t0002g0310 a0002c0002t0002g0312 a0002c0002t0002g0316 a0002c0002t0002g0318 a0002c0002t0002g0337 a0002c0002t0002g0342 a0002c0002t0002g0345 a0002c0002t0002g0364 a0002c0002t0002g0365 a0002c0002t0002g0368 a0002c0002t0002g0374 a0002c0002t0002g0408 a0002c0002t0005g0065 a0002c0020t0001g0070 a0002c0020t0001g0105 a0002c0020t0001g0232 a0002c0020t0002g0096 a0002c0020t0002g0404 a0002c0034t0002g0121 a0002c0034t0002g0163 a0002c0034t0002g0258 a0002c0041t0001g0215 a0002c0053t0001g0382 a0002c0126t0001g0118 a0002c0130t0001g0314 a0002c0139t0002g0059 a0005c0029t0001g0262 a0005c0029t0001g0263 a0005c0029t0001g0264 a0007c0021t0008g0002 a0007c0021t0008g0393 a0007c0021t0008g0396 a0007c0021t0008g0398 a0007c0032t0007g0114 a0007c0032t0008g0037 a0007c0032t0008g0128 a0016c0037t0002g0249 a0016c0037t0002g0250 a0016c0037t0002g0251 a0016c0074t0002g0134 a0019c0028t0001g0185 a0019c0069t0002g0334 a0031c0043t0006g0055 a0031c0043t0007g0054 a0037c0046t0003g0027 a0037c0046t0003g0030 a0039c0067t0002g0335 a0046c0075t0007g0053 a0047c0133t0001g0367 a0051c0127t0003g0252 a0052c0128t0001g0277 a0053c0129t0006g0058 a0063c0134t0001g0304 a0068c0101t0004g0039 a0073c0096t0002g0007	64	412	0.1553	-48	c.240 others(67): Show c.2407-1459_2407-1412delTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	COL5A3	ENSG00000080573.7	transcript	ENST00000264828.4	protein_coding	31/66			chr19	TogoVar
COL6A1_chr21_45976770_46010048	45977800	AGGGGGAG others(41): Show AGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0125 a0001c0001t0011g0125	1	128	0.0078	-48	c.-40 others(59): Show c.-4050_-4003delGGGGGAGAGAGGAGGGAGGGGGAGAGAGGAGGGA GGGGGAGAGAGGAG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding		3969		chr21	TogoVar
COL6A1_chr21_45976770_46010048	45987786	CGGCGGGG others(41): Show CGGCGGGGGTCCAGATGGAGGGGACGGCGGGAGTCCAGATGGAGGGGAT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02717.hp1 HG03453.hp1 others(2): Show HG00423.hp1 HG02717.hp1 HG03453.hp1 NA19005.hp2 NA19079.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0002 a0002c0002t0009 a0002c0002t0010 others(1): Show a0001c0001t0002 a0002c0002t0009 a0002c0002t0010 a0004c0005t0001	a0001c0001t0002g0096 a0001c0001t0002g0111 a0002c0002t0009g0038 others(2): Show a0001c0001t0002g0096 a0001c0001t0002g0111 a0002c0002t0009g0038 a0002c0002t0010g0123 a0004c0005t0001g0058	5	128	0.0391	-48	c.804 others(63): Show c.804+140_804+187delGTCCAGATGGAGGGGACGGCGGGAGTCCAG ATGGAGGGGATGGCGGGG	COL6A1	ENSG00000142156.16	transcript	ENST00000361866.8	protein_coding	8/34		INFO_REALIGN_3_PRIME	chr21	TogoVar
COL6A2_chr21_46093112_46134801	46133888	CAAATCAC others(41): Show CAAATCACACTGGACCAAGGCTCAGCCTGCTCTAGAATACCTCACCTAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0027 a0001c0027	a0001c0027t0003 a0001c0027t0003	a0001c0027t0003g0252 a0001c0027t0003g0252	1	372	0.0027	-48	c.43 others(59): Show c.4398_*4445delAAATCACACTGGACCAAGGCTCAGCCTGCTCTAG AATACCTCACCTAA	COL6A2	ENSG00000142173.17	transcript	ENST00000397763.6	protein_coding		4088		chr21	TogoVar
COL6A2_chr21_46093112_46137848	46133888	CAAATCAC others(41): Show CAAATCACACTGGACCAAGGCTCAGCCTGCTCTAGAATACCTCACCTAA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0046 a0001c0046	a0001c0046t0001 a0001c0046t0001	a0001c0046t0001g0249 a0001c0046t0001g0249	1	364	0.0028	-48	c.13 others(59): Show c.1337_*1384delAAATCACACTGGACCAAGGCTCAGCCTGCTCTAG AATACCTCACCTAA	COL6A2	ENSG00000142173.17	transcript	ENST00000300527.9	protein_coding		1041		chr21	TogoVar
COL9A3_chr20_62812050_62846159	62825064	AGGCTGGG others(41): Show AGGCTGGGCTCCGGCGGGAGGGAGGGGCTGGGCTCCGGCGGGAGGGAGG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG01123.hp2 others(16): Show HG00741.hp1 HG01099.hp2 HG01123.hp2 HG01175.hp1 HG01257.hp1 HG01258.hp1 HG02109.hp1 HG02148.hp2 HG02280.hp1 HG02572.hp1 HG02630.hp1 HG02647.hp2 HG02723.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp2 HG03579.hp1 HG06807.hp2 NA18906.hp2	a0002 a0004 a0011 others(1): Show a0002 a0004 a0011 a0014	a0002c0008 a0002c0015 a0002c0023 others(4): Show a0002c0008 a0002c0015 a0002c0023 a0004c0014 a0011c0054 a0011c0055 a0014c0031	a0002c0008t0001 a0002c0015t0001 a0002c0023t0001 others(4): Show a0002c0008t0001 a0002c0015t0001 a0002c0023t0001 a0004c0014t0001 a0011c0054t0001 a0011c0055t0001 a0014c0031t0002	a0002c0008t0001g0105 a0002c0008t0001g0149 a0002c0008t0001g0151 others(12): Show a0002c0008t0001g0105 a0002c0008t0001g0149 a0002c0008t0001g0151 a0002c0008t0001g0345 a0002c0008t0001g0346 a0002c0015t0001g0004 a0002c0015t0001g0154 a0002c0023t0001g0148 a0004c0014t0001g0015 a0004c0014t0001g0104 a0004c0014t0001g0106 a0004c0014t0001g0107 a0011c0054t0001g0093 a0011c0055t0001g0158 a0014c0031t0002g0103	19	412	0.0461	-48	c.630 others(63): Show c.630+132_630+179delGAGGGAGGGGCTGGGCTCCGGCGGGAGGGA GGGGCTGGGCTCCGGCGG	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	12/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COL9A3_chr20_62812050_62846159	62839641	ATGCCCTG others(41): Show ATGCCCTGGAGCCCTCTCCTCTCCTCCACCCACCCCACCTCTCCCTGGG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00558.hp2 HG00597.hp1 others(95): Show HG00544.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp1 HG01099.hp2 HG01175.hp1 HG01243.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01891.hp2 HG01928.hp2 HG01975.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp2 HG02109.hp2 HG02132.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02300.hp2 HG02486.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03041.hp1 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03579.hp1 HG03579.hp2 HG06807.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18941.hp1 NA18942.hp1 NA18945.hp1 NA18945.hp2 NA18948.hp1 NA18954.hp1 NA18956.hp2 NA18971.hp2 NA18977.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18986.hp1 NA18990.hp1 NA18994.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp2 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp1 NA19074.hp1 NA19074.hp2 NA19082.hp1 NA19083.hp1 NA19087.hp2 NA19090.hp1 NA19090.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0006 a0008 a0009 a0011 a0018 a0028	a0001c0001 a0001c0002 a0001c0003 others(26): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0053 a0002c0008 a0002c0015 a0002c0021 a0002c0023 a0002c0036 a0002c0048 a0003c0009 a0003c0022 a0003c0025 a0004c0014 a0004c0016 a0004c0030 a0006c0027 a0006c0039 a0006c0040 a0008c0019 a0009c0042 a0011c0054 a0011c0055 a0018c0045 a0028c0062	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(34): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0002t0001 a0001c0003t0001 a0001c0003t0007 a0001c0004t0001 a0001c0004t0005 a0001c0004t0006 a0001c0005t0001 a0001c0005t0008 a0001c0006t0001 a0001c0010t0004 a0001c0053t0001 a0002c0008t0001 a0002c0008t0006 a0002c0015t0001 a0002c0021t0004 a0002c0023t0001 a0002c0036t0004 a0002c0048t0005 a0003c0009t0001 a0003c0009t0005 a0003c0022t0004 a0003c0025t0005 a0004c0014t0001 a0004c0016t0001 a0004c0030t0001 a0006c0027t0001 a0006c0039t0004 a0006c0040t0007 a0008c0019t0001 a0009c0042t0001 a0011c0054t0001 a0011c0055t0001 a0018c0045t0001 a0028c0062t0005	a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 others(82): Show a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0054 a0001c0001t0001g0176 a0001c0001t0001g0180 a0001c0001t0006g0076 a0001c0001t0006g0259 a0001c0001t0007g0172 a0001c0002t0001g0005 a0001c0002t0001g0178 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0198 a0001c0002t0001g0204 a0001c0002t0001g0268 a0001c0003t0001g0279 a0001c0003t0001g0284 a0001c0003t0001g0287 a0001c0003t0001g0306 a0001c0003t0001g0316 a0001c0003t0001g0329 a0001c0003t0007g0352 a0001c0004t0001g0003 a0001c0004t0001g0055 a0001c0004t0001g0073 a0001c0004t0001g0075 a0001c0004t0001g0155 a0001c0004t0005g0351 a0001c0004t0006g0069 a0001c0005t0001g0003 a0001c0005t0001g0006 a0001c0005t0001g0045 a0001c0005t0001g0049 a0001c0005t0001g0050 a0001c0005t0001g0053 a0001c0005t0001g0058 a0001c0005t0001g0109 a0001c0005t0001g0115 a0001c0005t0001g0116 a0001c0005t0001g0126 a0001c0005t0001g0156 a0001c0005t0001g0168 a0001c0005t0001g0347 a0001c0005t0008g0006 a0001c0006t0001g0285 a0001c0010t0004g0163 a0001c0010t0004g0246 a0001c0010t0004g0258 a0001c0010t0004g0267 a0001c0053t0001g0167 a0002c0008t0001g0339 a0002c0008t0001g0343 a0002c0008t0001g0345 a0002c0008t0006g0146 a0002c0008t0006g0344 a0002c0015t0001g0004 a0002c0015t0001g0154 a0002c0021t0004g0340 a0002c0023t0001g0148 a0002c0036t0004g0092 a0002c0048t0005g0341 a0003c0009t0001g0081 a0003c0009t0001g0084 a0003c0009t0001g0085 a0003c0009t0005g0159 a0003c0022t0004g0097 a0003c0025t0005g0062 a0004c0014t0001g0015 a0004c0014t0001g0106 a0004c0014t0001g0107 a0004c0016t0001g0036 a0004c0016t0001g0038 a0004c0030t0001g0035 a0006c0027t0001g0161 a0006c0039t0004g0108 a0006c0040t0007g0074 a0008c0019t0001g0353 a0008c0019t0001g0354 a0008c0019t0001g0356 a0009c0042t0001g0063 a0011c0054t0001g0093 a0011c0055t0001g0158 a0018c0045t0001g0202 a0028c0062t0005g0086	98	412	0.2379	-48	c.186 others(65): Show c.1865-790_1865-743delCTCCTCTCCTCCACCCACCCCACCTCTC CCTGGGTGCCCTGGAGCCCT	COL9A3	ENSG00000092758.18	transcript	ENST00000649368.1	protein_coding	31/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
COLEC11_chr2_3590112_3649644	3591076	GGGGGCTG others(41): Show GGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0287 a0001c0001t0001g0287	1	378	0.0027	-48	c.-41 others(59): Show c.-4118_-4071delGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGG CGGCTGGCCGGGCA	COLEC11	ENSG00000118004.18	transcript	ENST00000349077.9	protein_coding		4035		chr2	TogoVar
COQ8A_chr1_226935294_226992544	226976127	TGGGGCTG others(41): Show TGGGGCTGCGGGACTGCGGGGCTGTGGGACTGCGATGTTGCCTGGCTGC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00423.hp2 others(198): Show HG00099.hp1 HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG01069.hp1 HG01071.hp1 HG01074.hp1 HG01081.hp1 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01255.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02071.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02451.hp1 HG02523.hp1 HG02602.hp2 HG02630.hp2 HG02647.hp2 HG02683.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03669.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18954.hp1 NA18957.hp1 NA18960.hp1 NA18960.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp2 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19007.hp2 NA19010.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19056.hp2 NA19057.hp1 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp1 NA19062.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19068.hp1 NA19070.hp1 NA19077.hp1 NA19077.hp2 NA19082.hp2 NA19083.hp1 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0005 others(3): Show a0001 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0006 others(8): Show a0001c0001 a0001c0002 a0001c0006 a0001c0008 a0001c0011 a0001c0016 a0004c0019 a0005c0017 a0006c0015 a0007c0018 a0008c0014	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0002t0003 a0001c0006t0003 a0001c0008t0001 a0001c0011t0004 a0001c0016t0001 a0004c0019t0001 a0005c0017t0001 a0006c0015t0001 a0007c0018t0011 a0008c0014t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(182): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0039 a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0046 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0001g0072 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0123 a0001c0001t0001g0128 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0164 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0248 a0001c0001t0001g0262 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0282 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0369 a0001c0001t0001g0378 a0001c0001t0002g0209 a0001c0001t0004g0001 a0001c0001t0004g0002 a0001c0001t0004g0008 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0037 a0001c0001t0004g0040 a0001c0001t0004g0059 a0001c0001t0004g0060 a0001c0001t0004g0080 a0001c0001t0004g0083 a0001c0001t0004g0084 a0001c0001t0004g0085 a0001c0001t0004g0086 a0001c0001t0004g0087 a0001c0001t0004g0091 a0001c0001t0004g0092 a0001c0001t0004g0094 a0001c0001t0004g0096 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0117 a0001c0001t0004g0118 a0001c0001t0004g0119 a0001c0001t0004g0121 a0001c0001t0004g0127 a0001c0001t0004g0130 a0001c0001t0004g0131 a0001c0001t0004g0155 a0001c0001t0004g0163 a0001c0001t0004g0294 a0001c0001t0004g0295 a0001c0001t0004g0335 a0001c0001t0004g0336 a0001c0001t0004g0337 a0001c0001t0004g0338 a0001c0001t0006g0093 a0001c0001t0006g0124 a0001c0001t0006g0125 a0001c0001t0006g0126 a0001c0002t0003g0110 a0001c0002t0003g0114 a0001c0006t0003g0051 a0001c0006t0003g0319 a0001c0006t0003g0321 a0001c0006t0003g0322 a0001c0006t0003g0325 a0001c0008t0001g0132 a0001c0008t0001g0133 a0001c0008t0001g0134 a0001c0011t0004g0120 a0001c0016t0001g0361 a0004c0019t0001g0208 a0005c0017t0001g0004 a0006c0015t0001g0175 a0007c0018t0011g0148 a0008c0014t0001g0367	201	412	0.4879	-48	c.656 others(65): Show c.656-1266_656-1219delCGGGACTGCGGGGCTGTGGGACTGCGAT GTTGCCTGGCTGCGGGGCTG	COQ8A	ENSG00000163050.18	transcript	ENST00000366777.4	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
CPA6_chr8_67417038_67751360	67607169	CTCTTCTT others(41): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCTTCT	C C	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG03209.hp1 HG02970.hp1 HG03209.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0102 a0002c0002t0001g0103	2	144	0.0139	-48	c.192 others(67): Show c.192+16959_192+17006delAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGAAGAAGAAGA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPNE4_chr3_131528569_132040014	131580387	TCTATACA others(41): Show TCTATACATATACATATACATATACATATACATATACATATACATATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02451.hp1 HG02559.hp1 others(4): Show HG01884.hp2 HG02451.hp1 HG02559.hp1 HG02572.hp2 HG03098.hp2 HG03209.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0003t0002 a0001c0004t0010 a0001c0005t0001	a0001c0001t0001g0016 a0001c0001t0001g0056 a0001c0001t0002g0078 others(4): Show a0001c0001t0001g0016 a0001c0001t0001g0056 a0001c0001t0002g0078 a0001c0002t0001g0013 a0001c0003t0002g0071 a0001c0004t0010g0086 a0001c0005t0001g0012	7	94	0.0745	-48	c.867 others(65): Show c.867+1144_867+1191delGTATATGTATATGTATATGTATATGTAT ATGTATATGTATATGTATAG	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	9/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131792624	TATATATA others(41): Show TATATATACACACGTGTATATATGTATATATACACACGTGTATATATAC	T T	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02647.hp1 HG03041.hp2 others(1): Show HG01884.hp1 HG02647.hp1 HG03041.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0011 a0001c0002t0011 a0001c0003t0001 others(1): Show a0001c0001t0011 a0001c0002t0011 a0001c0003t0001 a0001c0003t0003	a0001c0001t0011g0093 a0001c0002t0011g0094 a0001c0003t0001g0044 others(1): Show a0001c0001t0011g0093 a0001c0002t0011g0094 a0001c0003t0001g0044 a0001c0003t0003g0045	4	94	0.0426	-48	c.181 others(67): Show c.181-69047_181-69000delGTATATATACACGTGTGTATATATAC ATATATACACGTGTGTATATAT	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	2/15			chr3	TogoVar
CPNE4_chr3_131528569_132040014	131952559	GGGAGGGA others(41): Show GGGAGGGAGGTGGGGGGGTCAGCACCCCGCCCGGCCAGCCGCCCCGTCC	G G	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02258.hp1 HG02451.hp1 others(16): Show HG02257.hp2 HG02258.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02572.hp1 HG02622.hp1 HG02922.hp1 HG03041.hp1 HG03098.hp2 HG03516.hp1 HG03516.hp2 NA18522.hp1 NA18939.hp1 NA18966.hp2 NA18982.hp1 NA19007.hp1 NA19030.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0008 a0001c0002t0001 a0001c0002t0014 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0004t0001 a0001c0004t0002 a0001c0004t0010 a0001c0006t0004	a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0002g0075 others(16): Show a0001c0001t0001g0011 a0001c0001t0001g0021 a0001c0001t0002g0075 a0001c0001t0008g0064 a0001c0002t0001g0006 a0001c0002t0014g0065 a0001c0003t0001g0014 a0001c0003t0001g0018 a0001c0003t0001g0019 a0001c0003t0001g0033 a0001c0003t0002g0071 a0001c0003t0002g0089 a0001c0003t0003g0062 a0001c0004t0001g0007 a0001c0004t0001g0009 a0001c0004t0001g0055 a0001c0004t0002g0081 a0001c0004t0010g0086 a0001c0006t0004g0008	19	94	0.2021	-48	c.-1- others(65): Show c.-1-47163_-1-47116delGGACGGGGCGGCTGGCCGGGCGGGGTGC TGACCCCCCCACCTCCCTCC	CPNE4	ENSG00000196353.13	transcript	ENST00000429747.6	protein_coding	1/15			chr3	TogoVar
CPNE7_chr16_89570758_89602246	89588158	CCGTGTCA others(41): Show CCGTGTCACCCGCGTGTCACCCACAGATACACGGCCCCCGTGTCACCCG	C C	intron_variant intron_variant	MODIFIER	HG02280.hp2 NA18970.hp1 HG02280.hp2 NA18970.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0003 a0001c0009t0001 a0001c0002t0003 a0001c0009t0001	a0001c0002t0003g0192 a0001c0009t0001g0013 a0001c0002t0003g0192 a0001c0009t0001g0013	2	348	0.0058	-48	c.928 others(63): Show c.928-506_928-459delGCGTGTCACCCACAGATACACGGCCCCCGT GTCACCCGCGTGTCACCC	CPNE7	ENSG00000178773.15	transcript	ENST00000319518.13	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr16	TogoVar
CPS1_chr2_210551599_210684107	210564125	AGAAATTT others(41): Show AGAAATTTCAGAGCTTGCAGTATTCTATCTTGTAACATCATTAGAACAT	A A	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0328 a0002c0002t0002g0328	1	340	0.0029	-48	c.126 others(65): Show c.126+7267_126+7314delGAAATTTCAGAGCTTGCAGTATTCTATC TTGTAACATCATTAGAACAT	CPS1	ENSG00000021826.18	transcript	ENST00000233072.10	protein_coding	1/37			chr2	TogoVar
CPSF3_chr2_9418654_9478101	9466226	ACACACAC others(41): Show ACACACACGTGCGCGCACGCACGCGCACACACGCACACAAAGACGCACG	A A	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03540.hp1 HG03195.hp1 HG03540.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0213 a0001c0004t0001g0214 a0001c0004t0001g0213 a0001c0004t0001g0214	2	230	0.0087	-48	c.178 others(67): Show c.1787-1467_1787-1420delGCACGCACGCGCACACACGCACACAA AGACGCACGCACACACGTGCGC	CPSF3	ENSG00000119203.14	transcript	ENST00000238112.8	protein_coding	15/17		INFO_REALIGN_3_PRIME	chr2	TogoVar
CRACR2B_chr11_822919_836986	833096	GGGCGAGG others(41): Show GGGCGAGGGGCGCGAGGGGGCCGAAGGCCCTGCGCGCCCCAGCCCCGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0002 a0002c0002t0005g0002	1	448	0.0022	-48	c.13 others(59): Show c.1388_*1435delGGCGAGGGGCGCGAGGGGGCCGAAGGCCCTGCGC GCCCCAGCCCCGGA	CRACR2B	ENSG00000177685.17	transcript	ENST00000525077.2	protein_coding		1111		chr11	TogoVar
CREB3L2_chr7_137869979_138007086	137922370	CTATATAT others(41): Show CTATATATATATATGTATATATATATATATATATATATATATATATGTA	C C	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0067 a0001c0004t0067	a0001c0004t0067g0286 a0001c0004t0067g0286	1	288	0.0035	-48	c.319 others(65): Show c.319+5732_319+5779delTACATATATATATATATATATATATATA TATATACATATATATATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	2/11			chr7	TogoVar
CREB3L2_chr7_137869979_138007086	137946832	ATATATAG others(41): Show ATATATAGTTATCTATATAGTTATCTATATAGTTATATATATAGTTATC	A A	intron_variant intron_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0255 a0001c0001t0002g0255	1	288	0.0035	-48	c.103 others(67): Show c.103-18514_103-18467delGATAACTATATATATAACTATATAGA TAACTATATAGATAACTATATA	CREB3L2	ENSG00000182158.16	transcript	ENST00000330387.11	protein_coding	1/11			chr7	TogoVar
CRP_chr1_159707289_159719589	159713405	CCCAGAGA others(41): Show CCCAGAGACAGAGACGTGGGAACCATGCAGTGTAAAAAAGCGGGAGGTA	C C	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18965.hp1 NA19004.hp2 NA18965.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0016 a0001c0001t0007g0016	2	434	0.0046	-48	c.72 others(56): Show c.72_*119delTACCTCCCGCTTTTTTACACTGCATGGTTCCCACGTC TCTGTCTCTGG	CRP	ENSG00000132693.12	transcript	ENST00000255030.9	protein_coding	2/2	72		chr1	TogoVar
CRP_chr1_159707289_159719589	159713444	GCGGGAGG others(41): Show GCGGGAGGTACCAGAGACAGAGACGTGGGGCCCATGCGGTGTAAAAAAC	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0008 a0001c0005t0008	a0001c0005t0008g0023 a0001c0005t0008g0023	1	434	0.0023	-48	c.33 others(55): Show c.33_*80delGTTTTTTACACCGCATGGGCCCCACGTCTCTGTCTCTG GTACCTCCCG	CRP	ENSG00000132693.12	transcript	ENST00000255030.9	protein_coding	2/2	33		chr1	TogoVar
CSGALNACT1_chr8_19399161_19762277	19657239	TGATAAAC others(41): Show TGATAAACTGAAAGATAAACTGAAAGATAAACTGAAAGATAAACTGAAA	T T	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02976.hp2 HG02055.hp1 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0006 a0001c0001t0005 a0001c0002t0006	a0001c0001t0005g0187 a0001c0002t0006g0045 a0001c0001t0005g0187 a0001c0002t0006g0045	2	238	0.0084	-48	c.-39 others(69): Show c.-391-55422_-391-55375delTTTCAGTTTATCTTTCAGTTTATC TTTCAGTTTATCTTTCAGTTTATC	CSGALNACT1	ENSG00000147408.16	transcript	ENST00000692225.2	protein_coding	1/8			chr8	TogoVar
CSMD1_chr8_2930361_4999914	3926034	CACACACA others(41): Show CACACACACAAACACCATATACACACACACACACACACACAAACACCAT	C C	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0002 a0002	a0002c0072 a0002c0072	a0002c0072t0003 a0002c0072t0003	a0002c0072t0003g0066 a0002c0072t0003g0066	1	126	0.0079	-48	c.818 others(67): Show c.818+71821_818+71868delATGGTGTTTGTGTGTGTGTGTGTGTG TGTATATGGTGTTTGTGTGTGT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	5/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920884	AAGAAAAG others(41): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAGAG	A A	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0003 a0001c0033t0003	a0001c0033t0003g0059 a0001c0033t0003g0059	1	126	0.0079	-48	c.85+ others(65): Show c.85+73400_85+73447delCTCTTTCTTTTCTTTTCTTTTCTTTTCT TTTCTTTTCTTTTCTTTTCT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD1_chr8_2930361_4999914	4920902	AAAAGAAA others(41): Show AAAAGAAAAGAAAAGAAAAGAAAAGAAAGAGAGAAAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0007 a0007	a0007c0088 a0007c0088	a0007c0088t0076 a0007c0088t0076	a0007c0088t0076g0057 a0007c0088t0076g0057	1	126	0.0079	-48	c.85+ others(65): Show c.85+73382_85+73429delCTTTCTTTCTTTCTTTCTCTCTTTCTTT TCTTTTCTTTTCTTTTCTTT	CSMD1	ENSG00000183117.20	transcript	ENST00000635120.2	protein_coding	1/69			chr8	TogoVar
CSMD3_chr8_112217928_113441939	113112386	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	C C	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0022 a0001c0001t0002g0022	1	80	0.0125	-48	c.710 others(67): Show c.710-13471_710-13424delATATATATATATATATATATATATAT ATATATATATATATATATATAT	CSMD3	ENSG00000164796.18	transcript	ENST00000297405.10	protein_coding	4/70			chr8	TogoVar
CSNK1A1_chr5_149487982_149556439	149542624	ATATATAT others(41): Show ATATATATATATATATGTATATATATATATATATATATATATATATATG	A A	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01099.hp2 HG01255.hp1 others(13): Show HG00741.hp1 HG01099.hp2 HG01255.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01952.hp2 HG03453.hp1 HG06807.hp2 NA18954.hp2 NA18978.hp2 NA18993.hp2 NA19065.hp2 NA19070.hp1 NA19240.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0037	a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0016 others(12): Show a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0001g0100 a0001c0001t0009g0303 a0001c0001t0017g0079 a0001c0001t0018g0044 a0001c0001t0019g0017 a0001c0001t0037g0036	16	390	0.0410	-48	c.230 others(65): Show c.230+7403_230+7450delCATATATATATATATATATATATATATA TATACATATATATATATATA	CSNK1A1	ENSG00000113712.19	transcript	ENST00000377843.8	protein_coding	2/9			chr5	TogoVar
CSNK1E_chr22_38285691_38322433	38322173	GGAGATGT others(41): Show GGAGATGTGCGCCCGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	412	0.0024	-48	c.-50 others(59): Show c.-5074_-5027delTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTA CGGGCGCACATCTC	CSNK1E	ENSG00000213923.13	transcript	ENST00000396832.6	protein_coding		4741		chr22	TogoVar
CSNK1G2_chr19_1936172_1986338	1968110	CCGACCAC others(41): Show CCGACCACCCTTCAGTTCTGCAGGTGGGGCTCCTCCCCAGGCTGTCCCT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02630.hp1 HG03098.hp1 others(3): Show HG02572.hp2 HG02630.hp1 HG03098.hp1 HG03195.hp2 HG03471.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0012 a0001c0001t0005 a0001c0001t0012	a0001c0001t0005g0020 a0001c0001t0005g0242 a0001c0001t0005g0254 others(3): Show a0001c0001t0005g0020 a0001c0001t0005g0242 a0001c0001t0005g0254 a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0012g0245	6	382	0.0157	-48	c.-26 others(67): Show c.-265-1397_-265-1350delCGACCACCCTTCAGTTCTGCAGGTGG GGCTCCTCCCCAGGCTGTCCCT	CSNK1G2	ENSG00000133275.16	transcript	ENST00000255641.13	protein_coding	1/11			chr19	TogoVar
CSRP1_chr1_201478530_201512123	201481555	GGGCGGGG others(41): Show GGGCGGGGTGGCTTATGCCTGTAATCCCAGCCACTCAGAGGCTGAGCCA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0133 a0003c0005t0001g0133	1	432	0.0023	-48	c.31 others(59): Show c.3110_*3157delTGGCTCAGCCTCTGAGTGGCTGGGATTACAGGCA TAAGCCACCCCGCC	CSRP1	ENSG00000159176.14	transcript	ENST00000340006.7	protein_coding		1974		chr1	TogoVar
CSRP3_chr11_19177030_19206983	19197364	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01099.hp1 NA18950.hp1 HG00733.hp2 HG01099.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0102 a0001c0001t0001g0322 a0001c0001t0001g0083 a0001c0001t0001g0102 a0001c0001t0001g0322	3	416	0.0072	-48	c.-29 others(65): Show c.-29+4542_-29+4589delAAGGAAGGAAGGAAGGAAGGAAGGGAGG GAGGGAGGGAGGGAGGGAGG	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar
CSRP3_chr11_19177030_19206983	19197368	CCCTCCCT others(41): Show CCCTCCCTCCCTCCCTCCCTCCCTTCCTTCCTTCCTTCCTTCCTTCCTT	C C	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00621.hp2 HG00733.hp1 others(53): Show HG00423.hp2 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG01069.hp1 HG01074.hp2 HG01106.hp2 HG01256.hp1 HG01358.hp1 HG02015.hp1 HG02055.hp1 HG02132.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp2 HG02615.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02896.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG04199.hp2 NA18949.hp1 NA18966.hp1 NA18971.hp1 NA18995.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19083.hp1 NA19240.hp1 NA19240.hp2 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0003c0007	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0004t0001 a0003c0007t0001	a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 others(49): Show a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0132 a0001c0001t0001g0193 a0001c0001t0001g0227 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0234 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0268 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0280 a0001c0001t0001g0296 a0001c0001t0002g0228 a0001c0001t0002g0233 a0001c0001t0002g0236 a0001c0001t0002g0237 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0290 a0001c0002t0001g0295 a0001c0002t0002g0287 a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0003t0001g0224 a0001c0003t0001g0245 a0001c0003t0001g0248 a0001c0003t0001g0250 a0001c0003t0001g0251 a0001c0003t0001g0254 a0001c0003t0001g0255 a0001c0003t0001g0256 a0001c0004t0001g0129 a0003c0007t0001g0274	56	416	0.1346	-48	c.-29 others(65): Show c.-29+4538_-29+4585delAAGGAAGGAAGGAAGGAAGGAAGGAAGG GAGGGAGGGAGGGAGGGAGG	CSRP3	ENSG00000129170.10	transcript	ENST00000265968.9	protein_coding	1/5			chr11	TogoVar

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