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
PAX5_chr9_36828269_37039268	36973083	CGGAAAGG others(33): Show CGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAA	C C	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0193 a0001c0002t0004g0193	1	274	0.0037	-40	c.605 others(57): Show c.605-6399_605-6360delTTTCCTTTCCTTTCCTTTCCTTTCCTTT CCTTTCCTTTCC	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAX5_chr9_36828269_37039268	36973095	GAAAGGAA others(33): Show GAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00673.hp1 others(28): Show HG00099.hp1 HG00280.hp2 HG00673.hp1 HG00673.hp2 HG01074.hp2 HG01109.hp2 HG01257.hp2 HG02040.hp2 HG02257.hp2 HG02615.hp1 HG02683.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02896.hp1 HG03041.hp2 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03225.hp1 HG03492.hp2 HG03579.hp2 HG03927.hp1 HG04115.hp2 NA18945.hp2 NA18950.hp2 NA18962.hp1 NA19030.hp2 NA19063.hp2 NA19074.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0001c0001t0021 a0001c0001t0028 a0001c0001t0036 a0001c0001t0059 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0080 a0001c0001t0092 a0001c0002t0005 a0001c0002t0008 a0001c0002t0009 a0001c0002t0035 a0001c0002t0067 a0001c0002t0078 a0001c0002t0085	a0001c0001t0001g0082 a0001c0001t0001g0105 a0001c0001t0001g0182 others(28): Show a0001c0001t0001g0082 a0001c0001t0001g0105 a0001c0001t0001g0182 a0001c0001t0001g0198 a0001c0001t0001g0227 a0001c0001t0002g0091 a0001c0001t0002g0185 a0001c0001t0003g0034 a0001c0001t0007g0094 a0001c0001t0011g0036 a0001c0001t0012g0100 a0001c0001t0013g0081 a0001c0001t0013g0124 a0001c0001t0019g0166 a0001c0001t0021g0022 a0001c0001t0028g0092 a0001c0001t0036g0263 a0001c0001t0059g0021 a0001c0001t0071g0045 a0001c0001t0072g0070 a0001c0001t0074g0051 a0001c0001t0080g0243 a0001c0001t0092g0165 a0001c0002t0005g0085 a0001c0002t0008g0195 a0001c0002t0009g0205 a0001c0002t0009g0253 a0001c0002t0035g0109 a0001c0002t0067g0043 a0001c0002t0078g0042 a0001c0002t0085g0155	31	274	0.1131	-40	c.605 others(57): Show c.605-6411_605-6372delTCTTTCCTTTCCTTTCCTTTCCTTTCCT TTCCTTTCCTTT	PAX5	ENSG00000196092.14	transcript	ENST00000358127.9	protein_coding	5/9			chr9	TogoVar
PAXBP1_chr21_32728899_32776755	32771859	TGAGAGAG others(33): Show TGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp2 HG01358.hp1 HG03490.hp2 others(1): Show HG00733.hp2 HG01358.hp1 HG03490.hp2 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0001 a0001c0010t0001 a0001c0001t0001 a0001c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0149 a0001c0001t0001g0163 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0149 a0001c0001t0001g0163 a0001c0010t0001g0097	4	360	0.0111	-40	c.-23 others(49): Show c.-231_-192delTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		105		chr21	TogoVar
PAXBP1_chr21_32728899_32776755	32771909	AGAGAGAG others(33): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG00597.hp1 HG03139.hp2 HG00558.hp1 HG00597.hp1 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0145 a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0145	3	360	0.0083	-40	c.-28 others(49): Show c.-281_-242delGCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTC	PAXBP1	ENSG00000159086.15	transcript	ENST00000331923.9	protein_coding		155		chr21	TogoVar
PBLD_chr10_68277660_68337928	68279589	AGAAGTGA others(33): Show AGAAGTGAGGAGCCCCTCCGGCCGGCAGCCACCCCGTCTGG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp2 HG02717.hp1 HG03486.hp2 HG01884.hp2 HG02717.hp1 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0013 a0002c0002t0002 a0002c0002t0013	a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0013g0030 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0013g0030	3	364	0.0082	-40	c.45 others(51): Show c.4548_*4587delCCAGACGGGGTGGCTGCCGGCCGGAGGGGCTCCT CACTTC	PBLD	ENSG00000108187.16	transcript	ENST00000358769.7	protein_coding		3070		chr10	TogoVar
PCCA_chr13_100084093_100535435	100298613	CCCTCCCT others(33): Show CCCTCCCTCCCTCCCTCCCCTCCCTCCCTCCCTCCCTCCCT	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0071	1	174	0.0058	-40	c.106 others(59): Show c.1066-2844_1066-2805delTCCCTCCCTCCCTCCCCTCCCTCCCT CCCTCCCTCCCTCC	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	12/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCA_chr13_100084093_100535435	100348759	TCTTTCTT others(33): Show TCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTCCTTCCTTC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0118 a0002c0003t0001g0118	1	174	0.0058	-40	c.164 others(59): Show c.1643+8504_1643+8543delTCTTTCTTTCTTTCTTTCTTTCTTTC TTCCTTCCTTCCTT	PCCA	ENSG00000175198.17	transcript	ENST00000376285.6	protein_coding	18/23		INFO_REALIGN_3_PRIME	chr13	TogoVar
PCCB_chr3_136245340_136335169	136299538	GTGTATAG others(33): Show GTGTATAGGTATGCATGTGTATGTATGTATATGCATGTGTA	G G	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG04184.hp1 HG03927.hp2 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0287 a0001c0001t0001g0221 a0001c0001t0001g0287	2	300	0.0067	-40	c.885 others(57): Show c.885-1312_885-1273delATGTATGTATATGCATGTGTATGTATAG GTATGCATGTGT	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCCB_chr3_136245340_136335169	136299809	GGTATGCA others(33): Show GGTATGCATGTGTATGTATGTATATGCATGTGTATGTATAT	G G	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	300	0.0033	-40	c.885 others(57): Show c.885-1219_885-1180delTATGCATGTGTATGTATGTATATGCATG TGTATGTATATG	PCCB	ENSG00000114054.14	transcript	ENST00000251654.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr3	TogoVar
PCDH11X_chrX_91774375_92628230	92484129	GTATATAT others(33): Show GTATATATGTATGTATATATATGTATATATGTATATATGTA	G G	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00642.hp1 HG01069.hp1 others(42): Show HG00609.hp1 HG00642.hp1 HG01069.hp1 HG01358.hp1 HG01496.hp2 HG01928.hp1 HG02015.hp1 HG02027.hp1 HG02258.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp1 HG03041.hp1 HG03195.hp2 HG03225.hp1 HG03540.hp2 HG03942.hp1 HG04115.hp1 HG04204.hp1 NA18612.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp1 NA18949.hp1 NA18959.hp1 NA18960.hp1 NA18966.hp1 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA19004.hp1 NA19005.hp1 NA19043.hp1 NA19058.hp1 NA19060.hp1 NA19066.hp1 NA19082.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0002 a0001c0008 others(3): Show a0001c0001 a0001c0002 a0001c0008 a0002c0004 a0002c0006 a0003c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0017 a0001c0001t0019 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0002t0002 a0001c0002t0006 a0001c0008t0002 a0002c0004t0009 a0002c0006t0009 a0003c0005t0001	a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0029 others(42): Show a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0034 a0001c0001t0001g0042 a0001c0001t0001g0047 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0117 a0001c0001t0001g0121 a0001c0001t0001g0127 a0001c0001t0001g0140 a0001c0001t0001g0152 a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0062 a0001c0001t0002g0110 a0001c0001t0003g0036 a0001c0001t0003g0080 a0001c0001t0003g0094 a0001c0001t0003g0100 a0001c0001t0003g0101 a0001c0001t0003g0123 a0001c0001t0004g0134 a0001c0001t0004g0146 a0001c0001t0006g0053 a0001c0001t0007g0017 a0001c0001t0011g0147 a0001c0001t0012g0052 a0001c0001t0013g0097 a0001c0001t0017g0033 a0001c0001t0019g0065 a0001c0001t0025g0059 a0001c0001t0027g0088 a0001c0001t0028g0061 a0001c0002t0002g0008 a0001c0002t0006g0007 a0001c0008t0002g0038 a0002c0004t0009g0035 a0002c0004t0009g0040 a0002c0006t0009g0032 a0003c0005t0001g0025 a0003c0005t0001g0114	45	154	0.2922	-40	c.336 others(61): Show c.3367+15859_3367+15898delGTATATATATGTATATATGTATAT ATGTATATATATGTAT	PCDH11X	ENSG00000102290.23	transcript	ENST00000682573.1	protein_coding	10/10		INFO_REALIGN_3_PRIME	chrX	TogoVar
PCDH15_chr10_53797771_54806231	54796242	CTATCTAT others(33): Show CTATCTATCTATCTATCTATCTATCTATCTATGTATCTATG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp1 HG03041.hp2 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0003 a0002c0002t0004 a0001c0001t0003 a0002c0002t0004	a0001c0001t0003g0098 a0002c0002t0004g0097 a0001c0001t0003g0098 a0002c0002t0004g0097	2	102	0.0196	-40	c.-29 others(57): Show c.-29+4643_-29+4682delCATAGATACATAGATAGATAGATAGATA GATAGATAGATA	PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	1/37			chr10	TogoVar
PCDH15_chr10_53816099_54806231	54796242	CTATCTAT others(33): Show CTATCTATCTATCTATCTATCTATCTATCTATGTATCTATG	C C	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03130.hp1 HG03041.hp1 HG03130.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0002 a0001c0007 a0002c0002	a0001c0007t0001 a0002c0002t0002 a0001c0007t0001 a0002c0002t0002	a0001c0007t0001g0090 a0002c0002t0002g0089 a0001c0007t0001g0090 a0002c0002t0002g0089	2	94	0.0213	-40	c.-29 others(57): Show c.-29+4643_-29+4682delCATAGATACATAGATAGATAGATAGATA GATAGATAGATA	PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	1/32			chr10	TogoVar
PCDH7_chr4_30715369_31151800	31079309	GATATATA others(33): Show GATATATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	NA18948.hp1 NA18949.hp2 NA18991.hp2 others(2): Show NA18948.hp1 NA18949.hp2 NA18991.hp2 NA19079.hp2 NA19090.hp2	a0001 a0001	a0001c0002 a0001c0019 a0001c0002 a0001c0019	a0001c0002t0001 a0001c0002t0002 a0001c0002t0016 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0016 a0001c0019t0005	a0001c0002t0001g0150 a0001c0002t0002g0126 a0001c0002t0016g0141 others(2): Show a0001c0002t0001g0150 a0001c0002t0002g0126 a0001c0002t0016g0141 a0001c0002t0016g0148 a0001c0019t0005g0043	5	214	0.0234	-40	c.339 others(61): Show c.3392-63148_3392-63109delTATATATATATATATATATATATA TATATATATATATATA	PCDH7	ENSG00000169851.16	transcript	ENST00000695919.1	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCED1B_chr12_47074621_47241660	47170466	ACCGGGCA others(33): Show ACCGGGCAGAGGCGCCCCCCACCTCCCGGATGGGGCGGCGG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02698.hp2 HG03654.hp1 others(5): Show HG00140.hp1 HG02698.hp2 HG03654.hp1 HG03834.hp1 HG03927.hp1 NA18957.hp2 NA18980.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0001 a0001c0001t0002 a0001c0001t0007	a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0121 others(5): Show a0001c0001t0001g0049 a0001c0001t0001g0098 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0147 a0001c0001t0002g0101 a0001c0001t0002g0130 a0001c0001t0007g0083	8	322	0.0248	-40	c.-52 others(61): Show c.-525-45749_-525-45710delAGAGGCGCCCCCCACCTCCCGGAT GGGGCGGCGGCCGGGC	PCED1B	ENSG00000179715.13	transcript	ENST00000546455.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
PCED1B_chr12_47074621_47241660	47170473	AGAGGCGC others(33): Show AGAGGCGCCCCCCACCTCCCGGATGGGGCGGCGGCCGGGCG	A A	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02451.hp1 HG02965.hp2 others(2): Show HG02055.hp2 HG02451.hp1 HG02965.hp2 HG02976.hp2 HG03471.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0008 others(1): Show a0001c0001 a0001c0002 a0001c0008 a0002c0004	a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0008t0001 a0002c0004t0001	a0001c0001t0001g0144 a0001c0002t0001g0301 a0001c0008t0001g0146 others(2): Show a0001c0001t0001g0144 a0001c0002t0001g0301 a0001c0008t0001g0146 a0002c0004t0001g0060 a0002c0004t0001g0063	5	322	0.0155	-40	c.-52 others(61): Show c.-525-45729_-525-45690delGGATGGGGCGGCGGCCGGGCGGAG GCGCCCCCCACCTCCC	PCED1B	ENSG00000179715.13	transcript	ENST00000546455.6	protein_coding	2/3		INFO_REALIGN_3_PRIME	chr12	TogoVar
PCLO_chr7_82749012_83167884	82999647	TATAATAT others(33): Show TATAATATTATATATAAAATATAAAATATATTATATATAAA	T T	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0063 a0063	a0063c0107 a0063c0107	a0063c0107t0004 a0063c0107t0004	a0063c0107t0004g0068 a0063c0107t0004g0068	1	188	0.0053	-40	c.330 others(61): Show c.3301-33200_3301-33161delTTTATATATAATATATTTTATATT TTATATATAATATTAT	PCLO	ENSG00000186472.20	transcript	ENST00000333891.14	protein_coding	3/24			chr7	TogoVar
PCMT1_chr6_149744741_149816419	149786541	GCTCCTCA others(33): Show GCTCCTCACTTCTCAGACGGGGCGGTTGCCAGGCAGAGGGT	G G	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00558.hp1 HG00639.hp1 others(55): Show HG00423.hp2 HG00558.hp1 HG00639.hp1 HG01074.hp2 HG01175.hp2 HG01433.hp2 HG01928.hp2 HG01943.hp2 HG01952.hp1 HG01975.hp1 HG02027.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02135.hp2 HG02155.hp1 HG02273.hp2 HG02293.hp2 HG02698.hp2 HG03516.hp1 HG03831.hp1 NA18747.hp2 NA18942.hp1 NA18943.hp1 NA18944.hp2 NA18945.hp1 NA18952.hp2 NA18954.hp1 NA18955.hp2 NA18957.hp2 NA18959.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp1 NA18969.hp1 NA18972.hp1 NA18975.hp1 NA18979.hp2 NA18980.hp1 NA18982.hp1 NA18982.hp2 NA18984.hp1 NA18985.hp1 NA18998.hp1 NA18999.hp1 NA19000.hp1 NA19002.hp1 NA19007.hp2 NA19011.hp1 NA19054.hp2 NA19060.hp1 NA19070.hp2 NA19077.hp1 NA19082.hp1 NA20129.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0008 a0001c0001t0001 a0001c0001t0004 a0001c0001t0008	a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0199 others(55): Show a0001c0001t0001g0163 a0001c0001t0001g0168 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0205 a0001c0001t0001g0224 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0001g0254 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0291 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0307 a0001c0001t0001g0311 a0001c0001t0001g0314 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0004g0220 a0001c0001t0008g0295	58	334	0.1737	-40	c.193 others(57): Show c.193-3396_193-3357delCGGGGCGGTTGCCAGGCAGAGGGTCTCC TCACTTCTCAGA	PCMT1	ENSG00000120265.21	transcript	ENST00000464889.7	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr6	TogoVar
PCSK5_chr9_75885673_76367975	76040345	CTCTCTCT others(33): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTG	C C	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0036 a0036	a0036c0050 a0036c0050	a0036c0050t0015 a0036c0050t0015	a0036c0050t0015g0116 a0036c0050t0015g0116	1	166	0.0060	-40	c.632 others(59): Show c.632+13337_632+13376delTCTCTCTCTCTGTCTCTCTCTCTCTC TCTCTCTCTCTCTC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK5_chr9_75885673_76367975	76064580	GGCTGCCG others(33): Show GGCTGCCGGGCGGAGAGGCTCCTCACTTCTCAGACGGGGCA	G G	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01358.hp2 HG00741.hp1 HG01358.hp2	a0002 a0008 a0002 a0008	a0002c0094 a0008c0003 a0002c0094 a0008c0003	a0002c0094t0025 a0008c0003t0001 a0002c0094t0025 a0008c0003t0001	a0002c0094t0025g0090 a0008c0003t0001g0145 a0002c0094t0025g0090 a0008c0003t0001g0145	2	166	0.0121	-40	c.633 others(57): Show c.633-3368_633-3329delGGGCGGAGAGGCTCCTCACTTCTCAGAC GGGGCAGCTGCC	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCYT1B_chrX_24553087_24652347	24593441	CTTTCTTT others(33): Show CTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCT	C C	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02818.hp2 HG02895.hp1 others(5): Show HG02559.hp1 HG02818.hp2 HG02895.hp1 HG02970.hp2 HG03195.hp2 HG03486.hp2 NA18943.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0006 a0001c0001t0013 a0001c0001t0080 others(3): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0080 a0001c0001t0081 a0001c0001t0084 a0001c0002t0092	a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0173 others(5): Show a0001c0001t0006g0163 a0001c0001t0006g0164 a0001c0001t0006g0173 a0001c0001t0013g0253 a0001c0001t0080g0165 a0001c0001t0081g0162 a0001c0001t0084g0175 a0001c0002t0092g0171	8	260	0.0308	-40	c.335 others(57): Show c.335-3307_335-3268delAGAAAAGAAAAGAAAAGAAAAGAAAAGA AAAGAAAAGAAA	PCYT1B	ENSG00000102230.14	transcript	ENST00000379144.7	protein_coding	3/7			chrX	TogoVar
PDCD1_chr2_241844884_241863894	241851687	GGGCACAC others(33): Show GGGCACACGCGTGGGCCAGGCACCCCTGGAGACCGCAGGCA	G G	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0044 a0001c0001t0002g0044	1	407	0.0025	-40	c.627 others(55): Show c.627+222_627+261delTGCCTGCGGTCTCCAGGGGTGCCTGGCCCA CGCGTGTGCC	PDCD1	ENSG00000188389.11	transcript	ENST00000334409.10	protein_coding	4/4			chr2	TogoVar
PDCD6_chr5_266646_319974	278790	GGGAGGGT others(33): Show GGGAGGGTGCTGGGGATGCAGGGGAGGGTGCTGGGGACACA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02965.hp2 HG03195.hp1 HG02886.hp1 HG02965.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171	3	360	0.0083	-40	c.163 others(57): Show c.163+6037_163+6076delAGGGGAGGGTGCTGGGGACACAGGAGGG TGCTGGGGATGC	PDCD6	ENSG00000249915.9	transcript	ENST00000264933.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDCL3_chr2_100557993_100581739	100568312	GTCAAAGG others(33): Show GTCAAAGGTTTGAGCCTGGGGAATTTTAATCAGCAAAGGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00323.hp1 others(293): Show HG00099.hp2 HG00140.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01099.hp1 HG01109.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01934.hp1 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp1 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp2 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp1 NA18971.hp1 NA18971.hp2 NA18973.hp1 NA18976.hp1 NA18976.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18991.hp1 NA18991.hp2 NA18995.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0005 others(4): Show a0001c0001 a0001c0003 a0001c0005 a0002c0004 a0003c0006 a0004c0007 a0005c0008	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0003t0001 a0001c0005t0001 a0002c0004t0001 a0003c0006t0001 a0004c0007t0001 a0005c0008t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(182): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0241 a0001c0001t0002g0180 a0001c0001t0003g0109 a0001c0003t0001g0038 a0001c0003t0001g0197 a0001c0005t0001g0240 a0002c0004t0001g0001 a0002c0004t0001g0103 a0003c0006t0001g0024 a0004c0007t0001g0002 a0005c0008t0001g0130	296	396	0.7475	-40	c.134 others(55): Show c.134-614_134-575delAGGTTTGAGCCTGGGGAATTTTAATCAGCA AAGGGTTCAA	PDCL3	ENSG00000115539.14	transcript	ENST00000264254.11	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr2	TogoVar
PDE11A_chr2_177618244_178077777	177631583	ATACACAC others(33): Show ATACACACACATATATATGTGTGTATATATATACATATATG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0045 a0001c0003t0045	a0001c0003t0045g0153 a0001c0003t0045g0153	1	170	0.0059	-40	c.264 others(59): Show c.2647-2061_2647-2022delCATATATGTATATATATACACACATA TATATGTGTGTGTA	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	19/19			chr2	TogoVar
PDE11A_chr2_177618244_178077777	177945612	CCTCCGCC others(33): Show CCTCCGCCCGGCAGCCGCCCCGTCTGGGAGGTGAGGAGCCT	C C	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01884.hp1 HG03209.hp1 others(2): Show HG01243.hp1 HG01884.hp1 HG03209.hp1 HG03453.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0001 a0001c0010	a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 others(1): Show a0001c0001t0005 a0001c0001t0010 a0001c0001t0014 a0001c0010t0008	a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0010g0059 others(2): Show a0001c0001t0005g0060 a0001c0001t0005g0062 a0001c0001t0010g0059 a0001c0001t0014g0063 a0001c0010t0008g0061	5	170	0.0294	-40	c.107 others(61): Show c.1072-40465_1072-40426delAGGCTCCTCACCTCCCAGACGGGG CGGCTGCCGGGCGGAG	PDE11A	ENSG00000128655.19	transcript	ENST00000286063.11	protein_coding	2/19			chr2	TogoVar
PDE6B_chr4_620573_675782	655759	GGCCCCTC others(33): Show GGCCCCTCTGACCCCTGCACACACACGTGCAGCCCAGACCA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02818.hp1 HG02922.hp1 others(2): Show HG02630.hp1 HG02818.hp1 HG02922.hp1 HG03453.hp2 NA19030.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0025 a0006c0013 a0001c0001 a0001c0025 a0006c0013	a0001c0001t0001 a0001c0001t0011 a0001c0025t0001 others(1): Show a0001c0001t0001 a0001c0001t0011 a0001c0025t0001 a0006c0013t0010	a0001c0001t0001g0005 a0001c0001t0011g0043 a0001c0025t0001g0005 others(2): Show a0001c0001t0001g0005 a0001c0001t0011g0043 a0001c0025t0001g0005 a0006c0013t0010g0041 a0006c0013t0010g0042	5	308	0.0162	-40	c.993 others(55): Show c.993-147_993-108delCAGACCAGCCCCTCTGACCCCTGCACACAC ACGTGCAGCC	PDE6B	ENSG00000133256.13	transcript	ENST00000496514.6	protein_coding	6/21		INFO_REALIGN_3_PRIME	chr4	TogoVar
PDGFB_chr22_39218359_39249982	39247875	AAAAAAAA others(33): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0009 a0001c0001t0005g0009	1	386	0.0026	-40	c.-39 others(51): Show c.-3952_-3913delATATATATATATATATATATATATATTTTTTTTT TTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2894		chr22	TogoVar
PDGFB_chr22_39218359_39249982	39247877	AAAAAAAA others(33): Show AAAAAAAAAAAAAATATATATATATATATATATATATATAT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02818.hp1 HG03041.hp1 others(1): Show HG01109.hp1 HG02818.hp1 HG03041.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0027 a0001c0001t0005 a0001c0001t0027	a0001c0001t0005g0009 a0001c0001t0005g0044 a0001c0001t0027g0079 a0001c0001t0005g0009 a0001c0001t0005g0044 a0001c0001t0027g0079	4	386	0.0104	-40	c.-39 others(51): Show c.-3954_-3915delATATATATATATATATATATATATATATTTTTTT TTTTTT	PDGFB	ENSG00000100311.17	transcript	ENST00000331163.11	protein_coding		2896		chr22	TogoVar
PDIA2_chr16_278164_292215	285966	TCCCAACC others(33): Show TCCCAACCCCGCGGTTCTCCCAACCCCGCGGTTCTCCCAAC	T T	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0107 a0001c0001t0001g0107	1	436	0.0023	-40	c.111 others(57): Show c.1119+283_1119+322delCAACCCCGCGGTTCTCCCAACCCCAACC CCGCGGTTCTCC	PDIA2	ENSG00000185615.16	transcript	ENST00000219406.11	protein_coding	7/10		INFO_REALIGN_3_PRIME	chr16	TogoVar
PDS5B_chr13_32581452_32783019	32721540	CAGAGGTG others(33): Show CAGAGGTGCTCCTCACCTCCCAGATGGGGTGGCGGCCGGGT	C C	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG02257.hp1 HG02132.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0035 a0001c0001t0023 a0001c0001t0035	a0001c0001t0023g0299 a0001c0001t0035g0300 a0001c0001t0023g0299 a0001c0001t0035g0300	2	334	0.0060	-40	c.212 others(61): Show c.2124-10556_2124-10517delGTGCTCCTCACCTCCCAGATGGGG TGGCGGCCGGGTAGAG	PDS5B	ENSG00000083642.19	transcript	ENST00000315596.15	protein_coding	19/34		INFO_REALIGN_3_PRIME	chr13	TogoVar
PDZD2_chr5_31634131_32115932	32042001	GTCAGGAG others(33): Show GTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCC	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp1 others(79): Show HG00099.hp1 HG00099.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00597.hp1 HG00597.hp2 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp2 HG01168.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01358.hp2 HG01361.hp1 HG01433.hp2 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG02027.hp1 HG02055.hp1 HG02080.hp1 HG02258.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp2 HG02523.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02647.hp1 HG02683.hp2 HG02717.hp1 HG02723.hp1 HG02818.hp2 HG02886.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp2 HG03139.hp2 HG03195.hp2 HG03239.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03579.hp2 HG03669.hp1 HG03831.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04184.hp2 HG04204.hp1 HG04204.hp2 NA18522.hp2 NA18747.hp1 NA18906.hp1 NA18906.hp2 NA18944.hp2 NA18948.hp1 NA18948.hp2 NA18953.hp1 NA18962.hp1 NA18973.hp2 NA18986.hp2 NA19000.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp2 NA19088.hp2 NA20300.hp1 NA20752.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0014 a0015 a0017 a0023 a0024 a0027 a0033 a0035	a0001c0001 a0001c0005 a0001c0010 others(27): Show a0001c0001 a0001c0005 a0001c0010 a0001c0017 a0001c0044 a0001c0050 a0001c0053 a0002c0002 a0002c0003 a0002c0011 a0002c0012 a0002c0040 a0003c0004 a0003c0008 a0003c0027 a0004c0006 a0005c0009 a0005c0045 a0006c0015 a0006c0016 a0007c0013 a0008c0014 a0014c0021 a0015c0028 a0017c0048 a0023c0058 a0024c0054 a0027c0025 a0033c0042 a0035c0043	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0010 a0001c0001t0017 a0001c0001t0018 a0001c0001t0035 a0001c0005t0001 a0001c0005t0003 a0001c0010t0015 a0001c0017t0023 a0001c0044t0001 a0001c0050t0036 a0001c0053t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0005 a0002c0002t0006 a0002c0002t0025 a0002c0003t0002 a0002c0003t0005 a0002c0003t0020 a0002c0011t0001 a0002c0011t0002 a0002c0012t0002 a0002c0040t0032 a0003c0004t0003 a0003c0004t0004 a0003c0004t0005 a0003c0004t0011 a0003c0004t0012 a0003c0004t0027 a0003c0008t0012 a0003c0027t0012 a0004c0006t0007 a0004c0006t0010 a0005c0009t0013 a0005c0045t0038 a0006c0015t0040 a0006c0015t0046 a0006c0016t0002 a0007c0013t0001 a0008c0014t0001 a0008c0014t0004 a0014c0021t0003 a0015c0028t0004 a0017c0048t0002 a0023c0058t0001 a0024c0054t0009 a0027c0025t0001 a0033c0042t0014 a0035c0043t0002	a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 others(79): Show a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0138 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0165 a0001c0001t0001g0186 a0001c0001t0001g0194 a0001c0001t0002g0056 a0001c0001t0002g0088 a0001c0001t0003g0009 a0001c0001t0003g0032 a0001c0001t0006g0041 a0001c0001t0010g0040 a0001c0001t0017g0185 a0001c0001t0018g0128 a0001c0001t0035g0102 a0001c0005t0001g0091 a0001c0005t0001g0123 a0001c0005t0003g0014 a0001c0010t0015g0199 a0001c0017t0023g0071 a0001c0044t0001g0145 a0001c0050t0036g0148 a0001c0053t0001g0215 a0002c0002t0001g0076 a0002c0002t0001g0104 a0002c0002t0001g0126 a0002c0002t0001g0143 a0002c0002t0001g0153 a0002c0002t0002g0144 a0002c0002t0003g0021 a0002c0002t0005g0024 a0002c0002t0006g0155 a0002c0002t0025g0069 a0002c0003t0002g0049 a0002c0003t0002g0093 a0002c0003t0002g0103 a0002c0003t0002g0132 a0002c0003t0005g0017 a0002c0003t0020g0033 a0002c0011t0001g0080 a0002c0011t0002g0085 a0002c0012t0002g0078 a0002c0040t0032g0105 a0003c0004t0003g0022 a0003c0004t0004g0113 a0003c0004t0004g0115 a0003c0004t0004g0156 a0003c0004t0005g0031 a0003c0004t0011g0051 a0003c0004t0011g0124 a0003c0004t0012g0013 a0003c0004t0027g0101 a0003c0008t0012g0030 a0003c0027t0012g0015 a0004c0006t0007g0179 a0004c0006t0007g0201 a0004c0006t0007g0202 a0004c0006t0010g0173 a0004c0006t0010g0206 a0005c0009t0013g0203 a0005c0045t0038g0176 a0006c0015t0040g0213 a0006c0015t0046g0005 a0006c0016t0002g0043 a0007c0013t0001g0200 a0008c0014t0001g0159 a0008c0014t0004g0178 a0014c0021t0003g0012 a0015c0028t0004g0079 a0017c0048t0002g0062 a0023c0058t0001g0135 a0024c0054t0009g0039 a0027c0025t0001g0125 a0033c0042t0014g0187 a0035c0043t0002g0089	82	216	0.3796	-40	c.151 others(59): Show c.1519+4701_1519+4740delCAGGAGATCGAGACCATCCTGGCTAA CACGGTGAAACCCT	PDZD2	ENSG00000133401.16	transcript	ENST00000438447.2	protein_coding	7/24		INFO_REALIGN_3_PRIME	chr5	TogoVar
PDZRN4_chr12_41183320_41579745	41402270	ATATACAC others(33): Show ATATACACACTGTGTATATATATATATATACACACAGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0008 a0008	a0008c0057 a0008c0057	a0008c0057t0001 a0008c0057t0001	a0008c0057t0001g0201 a0008c0057t0001g0201	1	206	0.0049	-40	c.844 others(61): Show c.844-104181_844-104142delCACACTGTGTATATATATATATAT ACACACAGTGTGTATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41402295	ATATACAC others(33): Show ATATACACACAGTGTGTATATATATATACACACACTGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02895.hp2 HG02622.hp1 HG02895.hp2	a0003 a0017 a0003 a0017	a0003c0031 a0017c0053 a0003c0031 a0017c0053	a0003c0031t0001 a0017c0053t0001 a0003c0031t0001 a0017c0053t0001	a0003c0031t0001g0001 a0017c0053t0001g0145 a0003c0031t0001g0001 a0017c0053t0001g0145	2	206	0.0097	-40	c.844 others(61): Show c.844-104156_844-104117delCACACAGTGTGTATATATATATAC ACACACTGTGTGTATA	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PDZRN4_chr12_41183320_41579745	41540852	CCCCTTTT others(33): Show CCCCTTTTCTTCGTTGTTGTTGTTGTTGTTGTTGTTGTTGT	C C	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00741.hp2 HG01169.hp1 others(25): Show HG00621.hp1 HG00741.hp2 HG01169.hp1 HG01884.hp1 HG02717.hp2 HG02723.hp2 HG02970.hp1 HG03017.hp1 HG03098.hp2 HG03139.hp2 HG03225.hp2 HG03471.hp2 HG03704.hp1 NA18942.hp1 NA18953.hp1 NA18968.hp1 NA18977.hp1 NA18978.hp1 NA18983.hp1 NA18998.hp1 NA19010.hp1 NA19030.hp2 NA19058.hp2 NA19060.hp1 NA19080.hp2 NA19083.hp2 NA19240.hp1 NA20752.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0010	a0001c0001 a0002c0002 a0002c0022 others(7): Show a0001c0001 a0002c0002 a0002c0022 a0002c0027 a0004c0003 a0004c0012 a0004c0020 a0005c0008 a0005c0028 a0010c0051	a0001c0001t0001 a0002c0002t0001 a0002c0022t0001 others(8): Show a0001c0001t0001 a0002c0002t0001 a0002c0022t0001 a0002c0027t0001 a0004c0003t0001 a0004c0003t0002 a0004c0012t0001 a0004c0020t0001 a0005c0008t0001 a0005c0028t0001 a0010c0051t0001	a0001c0001t0001g0113 a0002c0002t0001g0199 a0002c0022t0001g0141 others(25): Show a0001c0001t0001g0113 a0002c0002t0001g0199 a0002c0022t0001g0141 a0002c0027t0001g0149 a0004c0003t0001g0067 a0004c0003t0001g0081 a0004c0003t0001g0082 a0004c0003t0001g0104 a0004c0003t0001g0105 a0004c0003t0001g0106 a0004c0003t0001g0108 a0004c0003t0001g0109 a0004c0003t0001g0120 a0004c0003t0001g0123 a0004c0003t0002g0058 a0004c0012t0001g0039 a0004c0012t0001g0047 a0004c0012t0001g0102 a0004c0012t0001g0103 a0004c0020t0001g0004 a0005c0008t0001g0012 a0005c0008t0001g0161 a0005c0008t0001g0165 a0005c0008t0001g0182 a0005c0008t0001g0203 a0005c0008t0001g0204 a0005c0028t0001g0089 a0010c0051t0001g0021	28	206	0.1359	-40	c.120 others(61): Show c.1204-11763_1204-11724delCCCTTTTCTTCGTTGTTGTTGTTG TTGTTGTTGTTGTTGT	PDZRN4	ENSG00000165966.16	transcript	ENST00000402685.7	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PEG3_chr19_56805082_56845726	56845309	CAAGTCTT others(33): Show CAAGTCTTGTCCTATATTTGAAAGGGGATACTCTTATCTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	416	0.0024	-40	c.-50 others(51): Show c.-5017_-4978delAAAGATAAGAGTATCCCCTTTCAAATATAGGACA AGACTT	PEG3	ENSG00000198300.14	transcript	ENST00000326441.15	protein_coding		4584		chr19	TogoVar
PEX1_chr7_92482025_92533520	92515067	CTATATAT others(33): Show CTATATATATATATATATATATATATATATATATATATATA	C C	intron_variant intron_variant	MODIFIER	HG03239.hp1 HG03490.hp2 HG03492.hp1 others(1): Show HG03239.hp1 HG03490.hp2 HG03492.hp1 HG03654.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0019 a0003c0003t0001g0067 a0003c0003t0001g0068 a0003c0003t0001g0019 a0003c0003t0001g0067 a0003c0003t0001g0068	4	310	0.0129	-40	c.124 others(59): Show c.1240-1140_1240-1101delTATATATATATATATATATATATATA TATATATATATATA	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX1_chr7_92482025_92533520	92516040	AGAGAAGA others(33): Show AGAGAAGAGAAGAGAAAAAAGAAAAGAAAAGAAAAGAAAAG	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	310	0.0032	-40	c.123 others(59): Show c.1239+1196_1239+1235delCTTTTCTTTTCTTTTCTTTTCTTTTT TCTCTTCTCTTCTC	PEX1	ENSG00000127980.16	transcript	ENST00000248633.9	protein_coding	5/23			chr7	TogoVar
PEX5_chr12_7184686_7216459	7197195	ATTATATA others(33): Show ATTATATATGTCATATATAATGTAATTATATATGTCATATG	A A	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03130.hp2 HG03041.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0091 a0001c0001t0001g0064 a0001c0001t0001g0091	2	428	0.0047	-40	c.449 others(57): Show c.449-1814_449-1775delTATATATGTCATATATAATGTAATTATA TATGTCATATGT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PFKFB3_chr10_6197932_6240532	6206803	GGGCGGCC others(33): Show GGGCGGCCGGGCAGAGACGCTCCTCACTTCCCAGACGGGGT	G G	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00280.hp1 HG00408.hp1 others(123): Show HG00099.hp2 HG00280.hp1 HG00408.hp1 HG00438.hp2 HG00544.hp2 HG00735.hp2 HG00738.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01175.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp2 HG01358.hp1 HG01433.hp1 HG01515.hp1 HG01884.hp2 HG01928.hp2 HG01978.hp1 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02071.hp1 HG02109.hp1 HG02129.hp1 HG02132.hp1 HG02132.hp2 HG02145.hp2 HG02155.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03540.hp1 HG03710.hp2 HG03927.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18941.hp1 NA18943.hp1 NA18952.hp1 NA18953.hp2 NA18957.hp2 NA18959.hp2 NA18965.hp1 NA18970.hp2 NA18974.hp1 NA18975.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18991.hp2 NA18998.hp1 NA19009.hp2 NA19012.hp1 NA19012.hp2 NA19056.hp1 NA19064.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp2 NA19085.hp2 NA19086.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0001c0002 a0001c0003 others(7): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0009 a0001c0010 a0002c0007 a0003c0008 a0005c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(56): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0024 a0001c0001t0030 a0001c0001t0031 a0001c0001t0037 a0001c0001t0038 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0001t0057 a0001c0001t0068 a0001c0001t0071 a0001c0001t0073 a0001c0001t0076 a0001c0001t0090 a0001c0002t0007 a0001c0002t0010 a0001c0002t0013 a0001c0002t0014 a0001c0002t0021 a0001c0002t0035 a0001c0002t0038 a0001c0002t0046 a0001c0002t0060 a0001c0002t0067 a0001c0002t0089 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0001c0003t0012 a0001c0003t0019 a0001c0003t0070 a0001c0004t0002 a0001c0004t0078 a0001c0006t0001 a0001c0006t0002 a0001c0009t0002 a0001c0010t0002 a0002c0007t0008 a0002c0007t0014 a0003c0008t0054 a0005c0012t0010	a0001c0001t0001g0056 a0001c0001t0001g0247 a0001c0001t0001g0277 others(119): Show a0001c0001t0001g0056 a0001c0001t0001g0247 a0001c0001t0001g0277 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0301 a0001c0001t0001g0306 a0001c0001t0001g0362 a0001c0001t0001g0366 a0001c0001t0001g0369 a0001c0001t0002g0244 a0001c0001t0002g0245 a0001c0001t0002g0246 a0001c0001t0002g0248 a0001c0001t0002g0272 a0001c0001t0002g0276 a0001c0001t0002g0287 a0001c0001t0002g0295 a0001c0001t0002g0300 a0001c0001t0002g0304 a0001c0001t0002g0307 a0001c0001t0002g0311 a0001c0001t0002g0312 a0001c0001t0002g0365 a0001c0001t0002g0374 a0001c0001t0002g0395 a0001c0001t0003g0013 a0001c0001t0003g0057 a0001c0001t0003g0316 a0001c0001t0003g0326 a0001c0001t0003g0336 a0001c0001t0003g0367 a0001c0001t0003g0412 a0001c0001t0004g0080 a0001c0001t0004g0363 a0001c0001t0004g0371 a0001c0001t0005g0375 a0001c0001t0005g0393 a0001c0001t0006g0014 a0001c0001t0006g0178 a0001c0001t0006g0249 a0001c0001t0006g0297 a0001c0001t0006g0378 a0001c0001t0007g0039 a0001c0001t0007g0040 a0001c0001t0007g0043 a0001c0001t0007g0204 a0001c0001t0007g0343 a0001c0001t0008g0237 a0001c0001t0009g0296 a0001c0001t0009g0382 a0001c0001t0010g0386 a0001c0001t0010g0409 a0001c0001t0011g0010 a0001c0001t0011g0293 a0001c0001t0011g0294 a0001c0001t0013g0235 a0001c0001t0013g0236 a0001c0001t0013g0379 a0001c0001t0014g0348 a0001c0001t0014g0381 a0001c0001t0015g0411 a0001c0001t0016g0289 a0001c0001t0016g0385 a0001c0001t0019g0217 a0001c0001t0020g0283 a0001c0001t0020g0376 a0001c0001t0020g0394 a0001c0001t0021g0347 a0001c0001t0024g0290 a0001c0001t0024g0345 a0001c0001t0024g0402 a0001c0001t0030g0026 a0001c0001t0031g0054 a0001c0001t0031g0074 a0001c0001t0037g0370 a0001c0001t0038g0314 a0001c0001t0041g0077 a0001c0001t0042g0273 a0001c0001t0042g0274 a0001c0001t0043g0034 a0001c0001t0057g0383 a0001c0001t0068g0044 a0001c0001t0071g0364 a0001c0001t0073g0024 a0001c0001t0076g0213 a0001c0001t0090g0305 a0001c0002t0007g0390 a0001c0002t0010g0384 a0001c0002t0013g0042 a0001c0002t0014g0408 a0001c0002t0021g0015 a0001c0002t0035g0318 a0001c0002t0038g0380 a0001c0002t0046g0037 a0001c0002t0060g0205 a0001c0002t0067g0041 a0001c0002t0089g0406 a0001c0003t0001g0413 a0001c0003t0001g0414 a0001c0003t0002g0214 a0001c0003t0002g0216 a0001c0003t0002g0234 a0001c0003t0002g0275 a0001c0003t0002g0288 a0001c0003t0008g0215 a0001c0003t0012g0291 a0001c0003t0019g0280 a0001c0003t0019g0292 a0001c0003t0019g0410 a0001c0003t0070g0279 a0001c0004t0002g0344 a0001c0004t0002g0391 a0001c0004t0078g0372 a0001c0006t0001g0302 a0001c0006t0002g0303 a0001c0009t0002g0361 a0001c0010t0002g0368 a0002c0007t0008g0407 a0002c0007t0014g0387 a0003c0008t0054g0308 a0005c0012t0010g0198	126	432	0.2917	-40	c.76+ others(55): Show c.76+3496_76+3535delCCCAGACGGGGTGGCGGCCGGGCAGAGACG CTCCTCACTT	PFKFB3	ENSG00000170525.21	transcript	ENST00000379775.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
PFKP_chr10_3062548_3141802	3062810	CTGAGTCA others(33): Show CTGAGTCATTCATTCACTCACTCACTCATTCACTCCTTCGG	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0108 a0001c0002t0003g0140 a0001c0002t0003g0108 a0001c0002t0003g0140	2	402	0.0050	-40	c.-47 others(51): Show c.-4785_-4746delTGAGTCATTCATTCACTCACTCACTCATTCACTC CTTCGG	PFKP	ENSG00000067057.19	transcript	ENST00000381125.9	protein_coding		4737		chr10	TogoVar
PFN2_chr3_149959904_149975895	149974611	TTTTATTT others(33): Show TTTTATTTTGTGTCTCATAAACTTCACGCAGCTGGATTTTG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02683.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	434	0.0023	-40	c.-37 others(51): Show c.-3795_-3756delCAAAATCCAGCTGCGTGAAGTTTATGAGACACAA AATAAA	PFN2	ENSG00000070087.15	transcript	ENST00000239940.12	protein_coding		3717		chr3	TogoVar
PGAM5_chr12_132705842_132727734	132710146	AGCGTCCA others(33): Show AGCGTCCAGCAATGGGTAAGCGGTGGGGTCGGTGCACGCAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02300.hp1 HG02300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0023	a0001c0001t0023g0002 a0001c0001t0023g0002	1	394	0.0025	-40	c.-73 others(49): Show c.-730_-691delGCGTCCAGCAATGGGTAAGCGGTGGGGTCGGTGCAC GCAG	PGAM5	ENSG00000247077.8	transcript	ENST00000498926.7	protein_coding		695		chr12	TogoVar
PGBD5_chr1_230309490_230431332	230315917	TGTATATG others(33): Show TGTATATGTGTACACATATATGTATGTGTATACATACATAA	T T	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00423.hp1 others(81): Show HG00099.hp2 HG00140.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00642.hp2 HG00735.hp1 HG01106.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp2 HG01261.hp1 HG01358.hp1 HG01358.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01928.hp2 HG01943.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02040.hp1 HG02080.hp2 HG02109.hp2 HG02293.hp2 HG02451.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02965.hp1 HG03239.hp1 HG03239.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03669.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18945.hp2 NA18946.hp2 NA18948.hp2 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18962.hp2 NA18964.hp2 NA18967.hp1 NA18974.hp2 NA18975.hp2 NA18977.hp1 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18986.hp2 NA18995.hp2 NA19004.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19063.hp2 NA19077.hp1 NA19091.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0001 a0002c0003 a0003c0007 others(1): Show a0001c0001 a0002c0003 a0003c0007 a0006c0009	a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 others(39): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0025 a0001c0001t0031 a0001c0001t0041 a0001c0001t0055 a0001c0001t0061 a0001c0001t0062 a0001c0001t0065 a0001c0001t0066 a0001c0001t0068 a0001c0001t0069 a0001c0001t0070 a0001c0001t0071 a0001c0001t0072 a0001c0001t0074 a0001c0001t0075 a0001c0001t0076 a0001c0001t0078 a0001c0001t0090 a0001c0001t0110 a0001c0001t0111 a0001c0001t0113 a0001c0001t0118 a0001c0001t0119 a0001c0001t0132 a0001c0001t0133 a0001c0001t0134 a0001c0001t0136 a0001c0001t0137 a0001c0001t0139 a0001c0001t0145 a0001c0001t0146 a0002c0003t0002 a0002c0003t0013 a0003c0007t0107 a0003c0007t0108 a0006c0009t0002	a0001c0001t0002g0054 a0001c0001t0002g0067 a0001c0001t0002g0068 others(81): Show a0001c0001t0002g0054 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0071 a0001c0001t0002g0077 a0001c0001t0002g0091 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0109 a0001c0001t0002g0111 a0001c0001t0002g0135 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0186 a0001c0001t0002g0207 a0001c0001t0002g0217 a0001c0001t0002g0222 a0001c0001t0002g0225 a0001c0001t0002g0226 a0001c0001t0002g0231 a0001c0001t0002g0234 a0001c0001t0005g0011 a0001c0001t0005g0078 a0001c0001t0005g0082 a0001c0001t0005g0113 a0001c0001t0005g0123 a0001c0001t0005g0127 a0001c0001t0005g0163 a0001c0001t0010g0019 a0001c0001t0010g0024 a0001c0001t0010g0057 a0001c0001t0010g0087 a0001c0001t0010g0116 a0001c0001t0011g0151 a0001c0001t0011g0152 a0001c0001t0011g0153 a0001c0001t0011g0171 a0001c0001t0012g0069 a0001c0001t0012g0076 a0001c0001t0012g0159 a0001c0001t0012g0180 a0001c0001t0013g0066 a0001c0001t0013g0114 a0001c0001t0013g0144 a0001c0001t0025g0257 a0001c0001t0025g0263 a0001c0001t0025g0281 a0001c0001t0031g0185 a0001c0001t0031g0218 a0001c0001t0041g0264 a0001c0001t0041g0279 a0001c0001t0055g0143 a0001c0001t0061g0184 a0001c0001t0062g0128 a0001c0001t0065g0101 a0001c0001t0066g0229 a0001c0001t0068g0055 a0001c0001t0069g0107 a0001c0001t0070g0197 a0001c0001t0071g0162 a0001c0001t0072g0169 a0001c0001t0074g0148 a0001c0001t0075g0108 a0001c0001t0076g0064 a0001c0001t0078g0182 a0001c0001t0090g0009 a0001c0001t0110g0031 a0001c0001t0111g0062 a0001c0001t0113g0133 a0001c0001t0118g0085 a0001c0001t0119g0056 a0001c0001t0132g0278 a0001c0001t0133g0277 a0001c0001t0134g0280 a0001c0001t0136g0261 a0001c0001t0137g0282 a0001c0001t0139g0252 a0001c0001t0145g0250 a0001c0001t0146g0273 a0002c0003t0002g0237 a0002c0003t0013g0241 a0003c0007t0107g0122 a0003c0007t0108g0070 a0006c0009t0002g0008	84	288	0.2917	-40	c.74 others(51): Show c.7468_*7507delTTATGTATGTATACACATACATATATGTGTACAC ATATAC	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	7/7	7468		chr1	TogoVar
PGBD5_chr1_230309490_230431332	230396248	TTTACCCC others(33): Show TTTACCCCCACACTCCTCCTTTTTACCCCCACACTCTTCCC	T T	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0017 a0001c0001t0017	a0001c0001t0017g0035 a0001c0001t0017g0035	1	288	0.0035	-40	c.331 others(59): Show c.331+29310_331+29349delGGGAAGAGTGTGGGGGTAAAAAGGAG GAGTGTGGGGGTAA	PGBD5	ENSG00000177614.11	transcript	ENST00000391860.7	protein_coding	1/6			chr1	TogoVar
PGLYRP2_chr19_15463645_15484501	15482596	CTTCCTTC others(33): Show CTTCCTTCCTTCCTTCCTTCTTTCTTTCTTTCTTTCTTTCT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0007 a0007	a0007c0007 a0007c0007	a0007c0007t0001 a0007c0007t0001	a0007c0007t0001g0197 a0007c0007t0001g0197	1	382	0.0026	-40	c.-32 others(51): Show c.-3265_-3226delAGAAAGAAAGAAAGAAAGAAAGAAGGAAGGAAGG AAGGAA	PGLYRP2	ENSG00000161031.13	transcript	ENST00000340880.5	protein_coding		3096		chr19	TogoVar
PGM1_chr1_63588411_63665245	63633892	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTGTGTGTGTGTATATATATATATA	G G	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0170 a0001c0006t0003g0170	1	366	0.0027	-40	c.683 others(55): Show c.683-935_683-896delGTGTGTGTGTGTGTGTGTGTGTGTGTATAT ATATATATAT	PGM1	ENSG00000079739.17	transcript	ENST00000371084.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
PGM1_chr1_63588411_63665245	63633902	GTGTGTGT others(33): Show GTGTGTGTGTGTGTGTGTATATATATATATATTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0057 a0011c0016t0001g0057	1	366	0.0027	-40	c.683 others(55): Show c.683-925_683-886delGTGTGTGTGTGTGTGTATATATATATATAT TTTTTTTTTT	PGM1	ENSG00000079739.17	transcript	ENST00000371084.8	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr1	TogoVar
PHACTR1_chr6_12711767_13292837	13064578	ATATATAT others(33): Show ATATATATATATATATATATATATATATCTATATATCTATC	A A	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03225.hp2 HG03486.hp1 others(2): Show HG01192.hp1 HG03225.hp2 HG03486.hp1 HG03540.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0002g0012 others(2): Show a0001c0001t0001g0094 a0001c0001t0001g0101 a0001c0001t0002g0012 a0001c0001t0003g0044 a0001c0001t0003g0104	5	108	0.0463	-40	c.415 others(59): Show c.415+11053_415+11092delATATATATATATATATATATATATCT ATATATCTATCTAT	PHACTR1	ENSG00000112137.19	transcript	ENST00000332995.12	protein_coding	5/14		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHACTR2_chr6_143672965_143836185	143771154	ATATGTAT others(33): Show ATATGTATATATATATATATGTATATATATATATATGTGTG	A A	intron_variant intron_variant	MODIFIER	HG02818.hp2 NA19082.hp1 HG02818.hp2 NA19082.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0051 a0001c0003t0007 a0001c0003t0051	a0001c0003t0007g0196 a0001c0003t0051g0223 a0001c0003t0007g0196 a0001c0003t0051g0223	2	310	0.0065	-40	c.123 others(59): Show c.1233-1100_1233-1061delGTATATATATATATATGTATATATAT ATATATGTGTGTAT	PHACTR2	ENSG00000112419.15	transcript	ENST00000440869.7	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHAF1_chr16_67104941_67153544	67141921	GCATTTCA others(33): Show GCATTTCAGCCTTATTTGTGTTACACCTCTTTCAGTCCCAC	G G	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0130 a0001c0001t0001g0130	1	230	0.0044	-40	c.879 others(57): Show c.879+1332_879+1371delTCAGCCTTATTTGTGTTACACCTCTTTC AGTCCCACCATT	PHAF1	ENSG00000125149.12	transcript	ENST00000219139.8	protein_coding	10/15		INFO_REALIGN_3_PRIME	chr16	TogoVar

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