Joint Open Genome and Omics Platform (JoGo)

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Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
NME8_chr7_37843597_37905397	37848197	AGAGAAGA others(54): Show AGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGG AAGAAGAAGAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp1 HG02165.hp2 HG00673.hp1 HG02165.hp2	a0003 a0015 a0003 a0015	a0003c0010 a0015c0032 a0003c0010 a0015c0032	a0003c0010t0001 a0015c0032t0001 a0003c0010t0001 a0015c0032t0001	a0003c0010t0001g0129 a0015c0032t0001g0131 a0003c0010t0001g0129 a0015c0032t0001g0131	2	388	0.0052	-61	c.-77 others(70): Show c.-771_-711delGAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAG AAGAAGAAGAAGGAAGAAGAAGAAG		NME8	ENSG00000086288.12	transcript	ENST00000199447.9	protein_coding					399		chr7	TogoVar
NOL7_chr6_13610335_13626712	13623489	AAAACAGG others(54): Show AAAACAGGATTAAGAATAAACGTGTGCAAAAAAGGGCACATAGATTGATG AGAAAGTGTGGT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	452	0.0022	-61	c.26 others(72): Show c.2663_*2723delAAACAGGATTAAGAATAAACGTGTGCAAAAAAGG GCACATAGATTGATGAGAAAGTGTGGT		NOL7	ENSG00000225921.7	transcript	ENST00000451315.7	protein_coding					1778		chr6	TogoVar
NPAS3_chr14_32933879_33809173	33536627	ATTTGGAG others(54): Show ATTTGGAGATGTTGCCCATTTGAGAACTGGTTTTCATTGTTATTTTATGT GCTTTTTTATGC	A A	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02717.hp2 HG00738.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0043 a0001c0001t0005 a0001c0003t0043	a0001c0001t0005g0032 a0001c0003t0043g0091 a0001c0001t0005g0032 a0001c0003t0043g0091	2	92	0.0217	-61	c.469 others(80): Show c.469-23486_469-23426delATGTTGCCCATTTGAGAACTGGTTTT CATTGTTATTTTATGTGCTTTTTTATGCTTTGGAG		NPAS3	ENSG00000151322.20	transcript	ENST00000356141.9	protein_coding	4/11					INFO_REALIGN_3_PRIME	chr14	TogoVar
NRCAM_chr7_108142649_108461436	108163846	ATGAGAGG others(54): Show ATGAGAGGTCATACTGGGTGGGGTGGCGGTAATGAGAGGTCATACCGGGT GGGGTGGGGTAG	A A	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp2 HG02965.hp2 others(4): Show HG01243.hp1 HG01496.hp2 HG02965.hp2 HG03139.hp1 HG03471.hp2 HG03540.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0003 a0001c0021 a0002c0008 a0001c0003 a0001c0021 a0002c0008	a0001c0003t0004 a0001c0021t0004 a0002c0008t0004 a0001c0003t0004 a0001c0021t0004 a0002c0008t0004	a0001c0003t0004g0021 a0001c0003t0004g0069 a0001c0003t0004g0182 others(4): Show a0001c0003t0004g0021 a0001c0003t0004g0069 a0001c0003t0004g0182 a0001c0003t0004g0201 a0001c0003t0004g0203 a0001c0021t0004g0170 a0002c0008t0004g0093	7	208	0.0337	-61	c.346 others(80): Show c.3466+3014_3466+3074delCTACCCCACCCCACCCGGTATGACCT CTCATTACCGCCACCCCACCCAGTATGACCTCTCA		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32						chr7	TogoVar
NRCAM_chr7_108142649_108461436	108163953	GGGTGGGG others(54): Show GGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGA GAGGTCATACCA	G G	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02559.hp2 HG02630.hp2 others(4): Show HG02258.hp2 HG02559.hp2 HG02630.hp2 HG02717.hp2 HG02896.hp2 NA18906.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0012 a0002c0008 a0002c0023 a0001c0012 a0002c0008 a0002c0023	a0001c0012t0002 a0002c0008t0003 a0002c0008t0010 others(1): Show a0001c0012t0002 a0002c0008t0003 a0002c0008t0010 a0002c0023t0002	a0001c0012t0002g0173 a0002c0008t0003g0084 a0002c0008t0003g0094 others(4): Show a0001c0012t0002g0173 a0002c0008t0003g0084 a0002c0008t0003g0094 a0002c0008t0003g0095 a0002c0008t0003g0096 a0002c0008t0010g0005 a0002c0023t0002g0038	7	208	0.0337	-61	c.346 others(80): Show c.3466+2907_3466+2967delTGGTATGACCTCTCATTACCGCCACC CCACCCGGTATGACCTCTCACTACCCCACCCCACC		NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32						chr7	TogoVar
NTN5_chr19_48656407_48678017	48669176	ACCATGAC others(54): Show ACCATGACCACCATCATCACCACCATCACCATCACCACCACCACCACCAC GACCATCATCAC	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0002 a0003c0006t0002	a0003c0006t0002g0123 a0003c0006t0002g0123	1	412	0.0024	-61	c.631 others(78): Show c.631+1119_631+1179delGTGATGATGGTCGTGGTGGTGGTGGTGG TGATGGTGATGGTGGTGATGATGGTGGTCATGG		NTN5	ENSG00000142233.14	transcript	ENST00000270235.11	protein_coding	2/6						chr19	TogoVar
NXN_chr17_794310_984776	894135	CAAACGCC others(54): Show CAAACGCCCTGGAAGCCAGAGGAAGCATCTCAAACGCCCTGGAAGCCAGA GGAAGCATCTCA	C C	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01884.hp2 HG01891.hp1 others(14): Show HG00741.hp1 HG01884.hp2 HG01891.hp1 HG02015.hp1 HG02055.hp1 HG02451.hp2 HG02630.hp2 HG02970.hp1 HG03098.hp1 HG03486.hp1 HG03579.hp1 NA18948.hp1 NA18980.hp2 NA19007.hp2 NA19011.hp1 NA19011.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0011 a0001c0001t0033 a0001c0002t0004 a0001c0003t0008	a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0045 others(14): Show a0001c0001t0001g0012 a0001c0001t0001g0025 a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0101 a0001c0001t0001g0154 a0001c0001t0001g0171 a0001c0001t0002g0114 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0004g0224 a0001c0001t0011g0174 a0001c0001t0033g0241 a0001c0002t0004g0016 a0001c0003t0008g0022 a0001c0003t0008g0179	17	242	0.0703	-61	c.361 others(80): Show c.361-68118_361-68058delTGAGATGCTTCCTCTGGCTTCCAGGG CGTTTGAGATGCTTCCTCTGGCTTCCAGGGCGTTT		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
NXN_chr17_794310_984776	913581	GGAGGCAG others(54): Show GGAGGCAGGTTCTCCACCTACCCCCACGTCCCCAGGCAATGCAGAGACCG GGAACCGATAAA	G G	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01884.hp1 HG02109.hp2 others(6): Show HG01167.hp1 HG01884.hp1 HG02109.hp2 HG02145.hp1 HG02622.hp1 HG02723.hp1 HG02809.hp2 HG02965.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0003t0001 a0001c0004t0007	a0001c0001t0001g0029 a0001c0001t0001g0177 a0001c0001t0001g0201 others(6): Show a0001c0001t0001g0029 a0001c0001t0001g0177 a0001c0001t0001g0201 a0001c0001t0003g0065 a0001c0001t0003g0175 a0001c0001t0007g0023 a0001c0001t0007g0073 a0001c0003t0001g0042 a0001c0004t0007g0233	9	242	0.0372	-61	c.360 others(80): Show c.360+65677_360+65737delTTTATCGGTTCCCGGTCTCTGCATTG CCTGGGGACGTGGGGGTAGGTGGAGAACCTGCCTC		NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7						chr17	TogoVar
OGFR_chr20_62799835_62819000	62813338	GCCGAGAG others(54): Show GCCGAGAGCCCATCGGAGACCCCAGGCCCCAGCCCGGCAGGACCTACAAG GGATGAGCCAGC	G G	frameshift_variant frameshift_variant	HIGH	HG03654.hp1 HG03654.hp1	a0000 a0000	a0000c0061 a0000c0061	a0000c0061t0002 a0000c0061t0002	a0000c0061t0002g0062 a0000c0061t0002g0062	1	422	0.0024	-61	c.172 others(70): Show c.1725_1785delCGAGAGCCCATCGGAGACCCCAGGCCCCAGCCCGGC AGGACCTACAAGGGATGAGCCAGCC	p.Glu others(5): Show p.Glu576fs	OGFR	ENSG00000060491.17	transcript	ENST00000290291.10	protein_coding	7/7	1750/2410	1725/2034	575/677		INFO_REALIGN_3_PRIME	chr20	TogoVar
OLFM2_chr19_9848718_9941515	9940531	TCGAGACT others(54): Show TCGAGACTGCAGTGAGCTATGATTACTCCACTGCACTCCAGCCTGGGCAA CAGAGTGAGACC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	342	0.0029	-61	c.-42 others(72): Show c.-4226_-4166delGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTG GAGTAATCATAGCTCACTGCAGTCTCG		OLFM2	ENSG00000105088.9	transcript	ENST00000264833.9	protein_coding					4017		chr19	TogoVar
OLFM3_chr1_101797560_102001926	101865173	TTCCCTGC others(54): Show TTCCCTGCTCCAGTTTTGAGCATTATGGAGCCCCCTGCACCAGGGTGATT TCTCAGCAGTGC	T T	intron_variant intron_variant	MODIFIER	HG02109.hp1 NA18522.hp2 HG02109.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0002t0004 a0001c0001t0003 a0001c0002t0004	a0001c0001t0003g0292 a0001c0002t0004g0255 a0001c0001t0003g0292 a0001c0002t0004g0255	2	306	0.0065	-61	c.70- others(78): Show c.70-28209_70-28149delGCACTGCTGAGAAATCACCCTGGTGCAG GGGGCTCCATAATGCTCAAAACTGGAGCAGGGA		OLFM3	ENSG00000118733.17	transcript	ENST00000370103.9	protein_coding	1/5						chr1	TogoVar
OR4A16_chr11_55338201_55349187	55339966	CTCCCGGG others(54): Show CTCCCGGGTTCAAGGTATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAT TATAGGCATGTA	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0000 a0001c0001t0000	a0001c0001t0000g0000 a0001c0001t0000g0000	2	434	0.0046	-61	c.-32 others(72): Show c.-3234_-3174delTCCCGGGTTCAAGGTATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGATTATAGGCATGTA		OR4A16	ENSG00000181961.5	transcript	ENST00000314721.5	protein_coding					3234		chr11	TogoVar
OR5AS1_chr11_56022654_56043191	56041969	GCTATTAT others(54): Show GCTATTATAGTGGGAAAGGCCAAATGGATGCCATTAAAGTGGCCTCTACC TAAAAAGAAATA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0004 a0001c0001t0011g0004	1	432	0.0023	-61	c.10 others(74): Show c.10577_*10637delCTATTATAGTGGGAAAGGCCAAATGGATGCCA TTAAAGTGGCCTCTACCTAAAAAGAAATA		OR5AS1	ENSG00000181785.3	transcript	ENST00000641320.1	protein_coding					3779		chr11	TogoVar
OTUD7A_chr15_31470398_31875673	31510974	TATGTATA others(54): Show TATGTATATCTATATGTAACATATGTATATCTATATGTAACATACATGTA TATCTATATGTA	T T	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02602.hp1 NA18983.hp2 others(1): Show HG00642.hp2 HG02602.hp1 NA18983.hp2 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0037 a0001c0002t0001g0056 a0001c0002t0001g0099 others(1): Show a0001c0002t0001g0037 a0001c0002t0001g0056 a0001c0002t0001g0099 a0001c0002t0001g0129	4	244	0.0164	-61	c.894 others(78): Show c.894-7217_894-7157delTACATATAGATATACATGTATGTTACAT ATAGATATACATATGTTACATATAGATATACAT		OTUD7A	ENSG00000169918.10	transcript	ENST00000307050.6	protein_coding	8/12						chr15	TogoVar
P2RX2_chr12_132613776_132627388	132620863	AGCCTGGG others(54): Show AGCCTGGGACTGACCCGGGCTCTCGAGGGGCCTCTCGTGTGCCCTTGTGA CCCCCTTCCCTG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(362): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG03942.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp1 NA18942.hp2 NA18944.hp1 NA18944.hp2 NA18947.hp1 NA18947.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19057.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19072.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp1 NA19080.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19086.hp1 NA19086.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0002 a0001c0003 others(11): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0011 a0001c0012 a0001c0013 a0002c0010 a0003c0014 a0004c0009 a0005c0006 a0006c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(21): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0007 a0001c0003t0001 a0001c0004t0004 a0001c0007t0001 a0001c0008t0001 a0001c0011t0002 a0001c0012t0001 a0001c0013t0002 a0002c0010t0001 a0003c0014t0008 a0004c0009t0001 a0005c0006t0002 a0006c0005t0003	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(53): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0002g0004 a0001c0001t0003g0001 a0001c0001t0003g0003 a0001c0001t0003g0010 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0036 a0001c0001t0004g0007 a0001c0001t0004g0009 a0001c0001t0006g0017 a0001c0001t0009g0001 a0001c0001t0010g0001 a0001c0001t0011g0001 a0001c0002t0001g0001 a0001c0002t0001g0004 a0001c0002t0001g0011 a0001c0002t0001g0020 a0001c0002t0001g0021 a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0016 a0001c0002t0002g0039 a0001c0002t0002g0042 a0001c0002t0005g0002 a0001c0002t0007g0002 a0001c0003t0001g0014 a0001c0003t0001g0019 a0001c0003t0001g0032 a0001c0004t0004g0022 a0001c0007t0001g0035 a0001c0008t0001g0013 a0001c0011t0002g0004 a0001c0012t0001g0005 a0001c0013t0002g0002 a0002c0010t0001g0001 a0003c0014t0008g0005 a0004c0009t0001g0001 a0005c0006t0002g0004 a0006c0005t0003g0003	365	386	0.9456	-61	c.775 others(74): Show c.775-93_775-33delTGTGACCCCCTTCCCTGGCCTGGGACTGACCC GGGCTCTCGAGGGGCCTCTCGTGTGCCCT		P2RX2	ENSG00000187848.15	transcript	ENST00000643471.2	protein_coding	7/10					INFO_REALIGN_3_PRIME	chr12	TogoVar
P2RX5_chr17_3668227_3701155	3685620	GACAGCGG others(54): Show GACAGCGGGGCCCCCAGGGACCCTCCCAGCGTCCCCCTCCCAGCCTGAGA ACAGGAGAACGC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0193 a0002c0002t0001g0193	1	362	0.0028	-61	c.981 others(78): Show c.981+2331_981+2391delGCGTTCTCCTGTTCTCAGGCTGGGAGGG GGACGCTGGGAGGGTCCCTGGGGGCCCCGCTGT		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3685648	GCGTCCCC others(54): Show GCGTCCCCCTCCCAGCCTGAGAACAGGAGAACGCACAGCGGGGCCCCCAG GGACCCTCCCAA	G G	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0024 a0002c0002t0001g0024	1	362	0.0028	-61	c.981 others(78): Show c.981+2303_981+2363delTTGGGAGGGTCCCTGGGGGCCCCGCTGT GCGTTCTCCTGTTCTCAGGCTGGGAGGGGGACG		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3685923	GCCCAGCC others(54): Show GCCCAGCCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCC CAACGTCCCCCT	G G	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp1 HG01070.hp2 others(4): Show HG00639.hp1 HG01069.hp1 HG01070.hp2 NA18961.hp1 NA18963.hp1 NA19009.hp1 NA19030.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002 a0003c0004t0001	a0001c0001t0001g0276 a0001c0001t0002g0033 a0002c0002t0001g0153 others(4): Show a0001c0001t0001g0276 a0001c0001t0002g0033 a0002c0002t0001g0153 a0002c0002t0001g0319 a0002c0002t0001g0342 a0002c0002t0002g0170 a0003c0004t0001g0027	7	362	0.0193	-61	c.981 others(78): Show c.981+2028_981+2088delAGGGGGACGTTGGGAGGGTCCCTGGGGG CCCCGCTGTGTGTTCTCCTGTTCTCAGGCTGGG		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3685946	ACACAGCG others(54): Show ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACG	A A	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA18984.hp1 NA19083.hp2 HG00140.hp2 NA18984.hp1 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0309 a0001c0001t0001g0337 a0001c0001t0001g0067 a0001c0001t0001g0309 a0001c0001t0001g0337	3	362	0.0083	-61	c.981 others(78): Show c.981+2005_981+2065delCGTTCTCCTGTTCTCAGGCTGGGAGGGG GACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTG		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686129	CAGAACAG others(54): Show CAGAACAGGAGAACGCACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG01175.hp1 HG01515.hp1 others(2): Show HG01106.hp2 HG01175.hp1 HG01515.hp1 HG02735.hp1 NA19087.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 others(1): Show a0001c0001t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0004	a0001c0001t0001g0260 a0002c0002t0001g0107 a0002c0002t0001g0177 others(2): Show a0001c0001t0001g0260 a0002c0002t0001g0107 a0002c0002t0001g0177 a0002c0002t0002g0117 a0002c0002t0004g0025	5	362	0.0138	-61	c.981 others(78): Show c.981+1822_981+1882delCAGGCTGGGAGGGGGACGTTGGGAGGGT CCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCT		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686249	GCCCAGCC others(54): Show GCCCAGCCTCAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCC CAACGTCCCCCT	G G	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0215	1	362	0.0028	-61	c.981 others(78): Show c.981+1702_981+1762delAGGGGGACGTTGGGAGGGTCCCTGGGGG CCCCGCTGTGTGTTCTCCTGTTCTGAGGCTGGG		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686258	CAGAACAG others(54): Show CAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG04199.hp2 NA18944.hp2 HG00741.hp2 HG04199.hp2 NA18944.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0097 a0001c0001t0002g0323 a0002c0002t0001g0028 a0001c0001t0001g0097 a0001c0001t0002g0323 a0002c0002t0001g0028	3	362	0.0083	-61	c.981 others(78): Show c.981+1693_981+1753delCAGGCTGGGAGGGGGACGTTGGGAGGGT CCCTGGGGGCCCCGCTGTGTGTTCTCCTGTTCT		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686272	ACACAGCG others(54): Show ACACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACG	A A	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01358.hp2 HG00544.hp2 HG01358.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0274 a0001c0001t0001g0295 a0001c0001t0001g0274 a0001c0001t0001g0295	2	362	0.0055	-61	c.981 others(78): Show c.981+1679_981+1739delCGTTCTCCTGTTCTCAGGCTGGGAGGGG GACGTTGGGAGGGTCCCTGGGGGCCCCGCTGTG		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686673	GCACAGCT others(54): Show GCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACA	G G	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01081.hp2 HG01952.hp1 others(1): Show HG00544.hp2 HG01081.hp2 HG01952.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0241 a0001c0001t0001g0274 others(1): Show a0001c0001t0001g0089 a0001c0001t0001g0241 a0001c0001t0001g0274 a0001c0001t0001g0297	4	362	0.0111	-61	c.981 others(78): Show c.981+1278_981+1338delTGTTCTCCTGTTCTCAGGCTGGGAGGGG GACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTG		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3686992	CAGAACAG others(54): Show CAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01515.hp1 HG02135.hp2 others(1): Show HG00741.hp2 HG01515.hp1 HG02135.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0097 a0001c0003t0001g0078 a0002c0002t0001g0028 others(1): Show a0001c0001t0001g0097 a0001c0003t0001g0078 a0002c0002t0001g0028 a0002c0002t0002g0117	4	362	0.0111	-61	c.981 others(77): Show c.981+959_981+1019delCAGGCTGGGAGGGGGACGTTGGGAGGGTC CCTGGGGGCCCAGCTGTGCGTTCTCCTGTTCT		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687006	GCACAGCT others(54): Show GCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACA	G G	intron_variant intron_variant	MODIFIER	HG04204.hp2 NA18947.hp2 HG04204.hp2 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0281 a0001c0001t0001g0022 a0001c0001t0001g0281	2	362	0.0055	-61	c.981 others(77): Show c.981+945_981+1005delTGTTCTCCTGTTCTCAGGCTGGGAGGGGG ACGTTGGGAGGGTCCCTGGGGGCCCAGCTGTG		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687121	CAGAACAG others(54): Show CAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18963.hp2 NA19080.hp2 NA18961.hp2 NA18963.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0050 a0001c0001t0001g0006 a0001c0001t0001g0050	3	362	0.0083	-61	c.981 others(76): Show c.981+830_981+890delCAGGCTGGGAGGGGGACGTTGGGAGGGTCC CTGGGGGCCCAGCTGTGTGTTCTCCTGTTCT		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687332	GCACAGCG others(54): Show GCACAGCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAG AACAGGAGAACA	G G	intron_variant intron_variant	MODIFIER	NA18977.hp1 NA18977.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0127 a0002c0002t0002g0127	1	362	0.0028	-61	c.981 others(76): Show c.981+619_981+679delTGTTCTCCTGTTCTCAGGCTGGGAGGGGGA CGTTGGGAGGGTCCCTGGGGGTCCCGCTGTG		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
P2RX5_chr17_3668227_3701155	3687515	CAGAACAG others(54): Show CAGAACAGGAGAACACACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCC CCTCCCAGCCTG	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00423.hp1 HG00423.hp2 others(45): Show HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00544.hp1 HG00558.hp2 HG00609.hp2 HG00639.hp2 HG01175.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp2 HG01433.hp2 HG01515.hp1 HG02015.hp1 HG02135.hp2 HG02165.hp1 HG02683.hp2 HG02735.hp1 HG03239.hp2 HG03831.hp2 HG03942.hp1 NA18943.hp1 NA18944.hp1 NA18944.hp2 NA18952.hp2 NA18954.hp1 NA18969.hp1 NA18975.hp2 NA18978.hp1 NA18980.hp2 NA18994.hp1 NA18995.hp2 NA18998.hp1 NA19000.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp1 NA19066.hp2 NA19067.hp1 NA19070.hp1 NA19070.hp2 NA19077.hp1 NA19081.hp1 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0016 a0001c0001t0001g0075 a0001c0001t0001g0148 others(40): Show a0001c0001t0001g0016 a0001c0001t0001g0075 a0001c0001t0001g0148 a0001c0001t0001g0176 a0001c0001t0001g0188 a0001c0001t0002g0008 a0001c0001t0002g0018 a0001c0001t0002g0076 a0001c0001t0002g0077 a0001c0001t0002g0106 a0001c0001t0002g0110 a0001c0001t0002g0114 a0001c0001t0002g0147 a0001c0001t0002g0149 a0001c0001t0002g0284 a0001c0001t0002g0323 a0001c0003t0001g0078 a0002c0002t0001g0004 a0002c0002t0001g0009 a0002c0002t0001g0107 a0002c0002t0001g0116 a0002c0002t0001g0118 a0002c0002t0001g0119 a0002c0002t0001g0121 a0002c0002t0001g0163 a0002c0002t0001g0165 a0002c0002t0001g0173 a0002c0002t0001g0177 a0002c0002t0001g0187 a0002c0002t0001g0239 a0002c0002t0002g0002 a0002c0002t0002g0117 a0002c0002t0002g0125 a0002c0002t0002g0126 a0002c0002t0002g0164 a0002c0002t0002g0166 a0002c0002t0002g0167 a0002c0002t0002g0168 a0002c0002t0002g0171 a0002c0002t0002g0180 a0002c0002t0002g0181 a0002c0002t0002g0324 a0002c0002t0002g0343	48	362	0.1326	-61	c.981 others(76): Show c.981+436_981+496delCAGGCTGGGAGGGGGACGTTGGGAGGGTCC CTGGGGGCCCAGCTGTGTGTTCTCCTGTTCT		P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11						chr17	TogoVar
PALM_chr19_703935_753329	741458	AGGGGTGA others(54): Show AGGGGTGAGGGGAGACGGGCTGCAGGGGTGAGGGGAGCTGGGCTGCAGGG GTGAGGGGAGAC	A A	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG03139.hp1 others(1): Show HG01109.hp1 HG02055.hp1 HG03139.hp1 HG03579.hp2	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0001c0002 a0002c0001	a0001c0002t0002 a0002c0001t0008 a0001c0002t0002 a0002c0001t0008	a0001c0002t0002g0006 a0001c0002t0002g0224 a0002c0001t0008g0023 a0001c0002t0002g0006 a0001c0002t0002g0224 a0002c0001t0008g0023	4	404	0.0099	-61	c.634 others(78): Show c.634+1012_634+1072delCTGGGCTGCAGGGGTGAGGGGAGACGGG GTGAGGGGAGACGGGCTGCAGGGGTGAGGGGAG		PALM	ENSG00000099864.18	transcript	ENST00000338448.10	protein_coding	8/8					INFO_REALIGN_3_PRIME	chr19	TogoVar
PARVA_chr11_12372571_12540356	12474730	CACCATCT others(54): Show CACCATCTCTACTAAAAATACAAAAAGTAGCCAAGTGTGGTGGCGCATGA CTGTAATCCCAG	C C	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA20300.hp2 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0053 a0001c0001t0009 a0001c0001t0053	a0001c0001t0009g0285 a0001c0001t0053g0243 a0001c0001t0009g0285 a0001c0001t0053g0243	2	286	0.0070	-61	c.297 others(76): Show c.297+809_297+869delACCATCTCTACTAAAAATACAAAAAGTAGC CAAGTGTGGTGGCGCATGACTGTAATCCCAG		PARVA	ENSG00000197702.14	transcript	ENST00000334956.15	protein_coding	3/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PARVB_chr22_44019302_44177939	44124630	GTCCCACA others(54): Show GTCCCACAGACAAGCCCCATCCTGGTGGAAGGGTCTCCCCGTGGGCCGTC CTGGAGGGTCAC	G G	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0126 a0001c0001t0053g0126	1	332	0.0030	-61	c.376 others(78): Show c.376+5530_376+5590delGTGGGCCGTCCTGGAGGGTCACTCCCAC AGACAAGCCCCATCCTGGTGGAAGGGTCTCCCC		PARVB	ENSG00000188677.15	transcript	ENST00000338758.12	protein_coding	4/12					INFO_REALIGN_3_PRIME	chr22	TogoVar
PCDH15_chr10_53797771_54806231	54421889	CACACACT others(54): Show CACACACTATATATATATATACACTATATATATATATACACTATATATAT ATATATAAAAAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01167.hp1 HG01192.hp1 others(21): Show HG01069.hp1 HG01167.hp1 HG01192.hp1 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02602.hp1 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp2 NA19043.hp2 NA20129.hp1	a0001 a0002 a0003 others(14): Show a0001 a0002 a0003 a0005 a0007 a0008 a0010 a0011 a0012 a0020 a0021 a0022 a0026 a0027 a0028 a0030 a0037	a0001c0001 a0002c0002 a0003c0003 others(14): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0007c0007 a0008c0010 a0010c0009 a0011c0017 a0012c0016 a0020c0027 a0021c0026 a0022c0028 a0026c0033 a0027c0031 a0028c0034 a0030c0036 a0037c0018	a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 others(19): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0014 a0002c0002t0004 a0002c0002t0023 a0003c0003t0009 a0003c0003t0019 a0005c0005t0002 a0007c0007t0003 a0008c0010t0001 a0010c0009t0011 a0010c0009t0012 a0011c0017t0002 a0012c0016t0001 a0020c0027t0001 a0021c0026t0008 a0022c0028t0004 a0026c0033t0017 a0027c0031t0010 a0028c0034t0013 a0030c0036t0004 a0037c0018t0001	a0001c0001t0001g0006 a0001c0001t0001g0089 a0001c0001t0001g0101 others(21): Show a0001c0001t0001g0006 a0001c0001t0001g0089 a0001c0001t0001g0101 a0001c0001t0003g0098 a0001c0001t0014g0067 a0002c0002t0004g0077 a0002c0002t0023g0034 a0003c0003t0009g0018 a0003c0003t0019g0060 a0005c0005t0002g0094 a0007c0007t0003g0065 a0008c0010t0001g0091 a0010c0009t0011g0078 a0010c0009t0012g0042 a0011c0017t0002g0072 a0012c0016t0001g0028 a0020c0027t0001g0080 a0021c0026t0008g0081 a0022c0028t0004g0013 a0026c0033t0017g0023 a0027c0031t0010g0066 a0028c0034t0013g0058 a0030c0036t0004g0061 a0037c0018t0001g0004	24	102	0.2353	-61	c.158 others(80): Show c.158-43008_158-42948delATTTTTATATATATATATATAGTGTA TATATATATATAGTGTATATATATATATAGTGTGT		PCDH15	ENSG00000150275.20	transcript	ENST00000644397.2	protein_coding	3/37						chr10	TogoVar
PCDH15_chr10_53816099_54806231	54421889	CACACACT others(54): Show CACACACTATATATATATATACACTATATATATATATACACTATATATAT ATATATAAAAAT	C C	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01192.hp1 HG02145.hp1 others(15): Show HG01069.hp2 HG01192.hp1 HG02145.hp1 HG02145.hp2 HG02602.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03225.hp1 HG03225.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG06807.hp1 NA19043.hp1 NA20129.hp1	a0001 a0002 a0003 others(11): Show a0001 a0002 a0003 a0005 a0010 a0011 a0012 a0017 a0018 a0022 a0025 a0026 a0027 a0033	a0001c0001 a0001c0007 a0002c0002 others(12): Show a0001c0001 a0001c0007 a0002c0002 a0003c0025 a0005c0035 a0010c0010 a0011c0021 a0012c0020 a0017c0033 a0018c0034 a0022c0039 a0025c0041 a0026c0026 a0027c0027 a0033c0022	a0001c0001t0001 a0001c0007t0001 a0002c0002t0002 others(13): Show a0001c0001t0001 a0001c0007t0001 a0002c0002t0002 a0002c0002t0009 a0003c0025t0001 a0005c0035t0001 a0010c0010t0003 a0011c0021t0001 a0012c0020t0001 a0017c0033t0001 a0018c0034t0003 a0022c0039t0001 a0025c0041t0002 a0026c0026t0001 a0027c0027t0008 a0033c0022t0001	a0001c0001t0001g0006 a0001c0001t0001g0081 a0001c0001t0001g0083 others(15): Show a0001c0001t0001g0006 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0007t0001g0090 a0002c0002t0002g0071 a0002c0002t0009g0031 a0003c0025t0001g0018 a0005c0035t0001g0086 a0010c0010t0003g0061 a0011c0021t0001g0066 a0012c0020t0001g0025 a0017c0033t0001g0073 a0018c0034t0003g0013 a0022c0039t0001g0093 a0025c0041t0002g0057 a0026c0026t0001g0056 a0027c0027t0008g0039 a0033c0022t0001g0004	18	94	0.1915	-61	c.158 others(80): Show c.158-43008_158-42948delATTTTTATATATATATATATAGTGTA TATATATATATAGTGTATATATATATATAGTGTGT		PCDH15	ENSG00000150275.20	transcript	ENST00000320301.11	protein_coding	3/32						chr10	TogoVar
PDE4B_chr1_65787895_66379574	66228896	AGTCTGTC others(54): Show AGTCTGTCTTCTATAGTCTGCACTGCCTGAAATTGCTTATTTTTCAGCTA TTTTTAACCTAT	A A	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01099.hp1 HG01106.hp2 others(11): Show HG01070.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01243.hp1 HG01358.hp1 HG02132.hp2 HG03239.hp1 HG04115.hp1 HG04115.hp2 NA18954.hp2 NA19010.hp1 NA19085.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0002t0004 a0001c0002t0012	a0001c0001t0001g0046 a0001c0001t0001g0099 a0001c0001t0003g0049 others(11): Show a0001c0001t0001g0046 a0001c0001t0001g0099 a0001c0001t0003g0049 a0001c0002t0001g0013 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0063 a0001c0002t0001g0068 a0001c0002t0001g0083 a0001c0002t0001g0100 a0001c0002t0004g0005 a0001c0002t0004g0039 a0001c0002t0004g0041 a0001c0002t0012g0112	14	118	0.1186	-61	c.282 others(80): Show c.282-18563_282-18503delGTCTGTCTTCTATAGTCTGCACTGCC TGAAATTGCTTATTTTTCAGCTATTTTTAACCTAT		PDE4B	ENSG00000184588.18	transcript	ENST00000341517.9	protein_coding	3/16						chr1	TogoVar
PDZD7_chr10_101002679_101036129	101017831	GAAGGAAG others(54): Show GAAGGAAGGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGA AAGAAAGAAAGA	G G	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0003 a0003	a0003c0032 a0003c0032	a0003c0032t0009 a0003c0032t0009	a0003c0032t0009g0039 a0003c0032t0009g0039	1	432	0.0023	-61	c.152 others(78): Show c.1522+207_1522+267delTCTTTCTTTCTTTCTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTCTTTCTTTCCTTCCTT		PDZD7	ENSG00000186862.20	transcript	ENST00000619208.6	protein_coding	9/16						chr10	TogoVar
PELI2_chr14_56113411_56306524	56197916	GACACACA others(54): Show GACACACACACACACACACACACACACACACACCAGGGATCATGACTGGT GAAGACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp2 HG02809.hp2 HG02109.hp1 HG02622.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0017 a0001c0001t0007g0101 a0001c0001t0007g0153 a0001c0001t0007g0017 a0001c0001t0007g0101 a0001c0001t0007g0153	3	368	0.0082	-61	c.207 others(80): Show c.207+19485_207+19545delCAGGGATCATGACTGGTGAAGACACA CACACACACACACACACACACACACACACACACAC		PELI2	ENSG00000139946.11	transcript	ENST00000267460.9	protein_coding	2/5					INFO_REALIGN_3_PRIME	chr14	TogoVar
PERM1_chr1_970198_987093	977222	CACCAACC others(54): Show CACCAACCCCGGGAACCGCCTCCCACCACCCCGCCAACCCCGGGAACCGC CTGCCCCCACCG	C C	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA19082.hp1 NA18957.hp1 NA19082.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0036 a0001c0001 a0003c0036	a0001c0001t0001 a0003c0036t0021 a0001c0001t0001 a0003c0036t0021	a0001c0001t0001g0179 a0003c0036t0021g0074 a0001c0001t0001g0179 a0003c0036t0021g0074	2	408	0.0049	-61	c.215 others(78): Show c.2150-659_2150-599delCGGTGGGGGCAGGCGGTTCCCGGGGTTG GCGGGGTGGTGGGAGGCGGTTCCCGGGGTTGGT		PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3						chr1	TogoVar
PEX5_chr12_7184686_7216459	7196254	TTATATAT others(54): Show TTATATATGTCATAATTTATATATGTCATATATAATTTAATTATATGTCA TATATAATTTAA	T T	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01167.hp1 HG01169.hp2 others(20): Show HG01099.hp2 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG02257.hp1 HG02615.hp2 HG02647.hp1 HG02818.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03453.hp2 HG03579.hp1 HG03579.hp2 HG04184.hp1 HG04228.hp1 HG06807.hp1 NA18747.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 others(1): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0003c0003t0004	a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 others(17): Show a0001c0001t0003g0176 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0182 a0001c0001t0004g0035 a0001c0001t0004g0036 a0001c0001t0004g0037 a0001c0001t0004g0211 a0001c0001t0004g0213 a0001c0001t0004g0214 a0001c0001t0004g0215 a0001c0001t0004g0216 a0001c0001t0004g0217 a0001c0001t0004g0219 a0001c0001t0004g0221 a0001c0001t0004g0222 a0001c0001t0004g0223 a0001c0001t0004g0224 a0001c0001t0017g0204 a0003c0003t0004g0293	23	428	0.0537	-61	c.449 others(78): Show c.449-2755_449-2695delATATATGTCATAATTTATATATGTCATA TATAATTTAATTATATGTCATATATAATTTAAT		PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15					INFO_REALIGN_3_PRIME	chr12	TogoVar
PHLDA2_chr11_2923273_2934420	2923278	GCTCAGGG others(54): Show GCTCAGGGCACACATCTGACACTCCATCCACCTGCCTGTCTGGGAGGCAG CAGATCCAGAAA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(326): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp1 HG02698.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02970.hp1 HG02976.hp1 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp1 NA18939.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18946.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18956.hp1 NA18956.hp2 NA18957.hp1 NA18957.hp2 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18975.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18981.hp2 NA18983.hp1 NA18983.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp1 NA18990.hp2 NA18994.hp1 NA18994.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19011.hp2 NA19030.hp1 NA19054.hp1 NA19054.hp2 NA19055.hp1 NA19055.hp2 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19060.hp1 NA19060.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0002t0001 a0001c0002t0006 a0001c0003t0001	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0006 others(9): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0006 a0001c0001t0004g0007 a0001c0001t0005g0008 a0001c0001t0007g0009 a0001c0001t0008g0010 a0001c0001t0009g0011 a0001c0001t0010g0012 a0001c0002t0001g0003 a0001c0002t0006g0005 a0001c0003t0001g0004	329	375	0.8773	-61	c.53 others(72): Show c.5339_*5399delTTTCTGGATCTGCTGCCTCCCAGACAGGCAGGTG GATGGAGTGTCAGATGTGTGCCCTGAG		PHLDA2	ENSG00000181649.8	transcript	ENST00000314222.5	protein_coding					4994		chr11	TogoVar
PIEZO1_chr16_88710338_88790220	88736406	TACCTGCG others(54): Show TACCTGCGCGGCAGAGAGGGCTGCACAGCTGCCCAGCGCACCCCACCCAG GCGATGCCCCAC	T T	frameshift_variant others(3): Show frameshift_variant splice_acceptor_variant splice_region_variant intron_variant	HIGH	HG03209.hp1 HG03209.hp1	a0045 a0045	a0045c0138 a0045c0138	a0045c0138t0001 a0045c0138t0001	a0045c0138t0001g0272 a0045c0138t0001g0272	1	282	0.0036	-61	c.129 others(73): Show c.1297-59_1298delGTGGGGCATCGCCTGGGTGGGGTGCGCTGGGCA GCTGTGCAGCCCTCTCTGCCGCGCAGGT	p.Val others(5): Show p.Val433fs	PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	12/51	1554/8089	1297/7566	433/2521			chr16	TogoVar
PIEZO1_chr16_88710338_88790220	88736422	AGGGCTGC others(54): Show AGGGCTGCACAGCTGCCCAGCGCACCCCACCCAGGCGATGCCCCACACCT GCGCGGCAGAGG	A A	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00544.hp1 others(18): Show HG00099.hp2 HG00408.hp2 HG00544.hp1 HG00544.hp2 HG00642.hp2 HG00673.hp2 HG01071.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01943.hp2 HG02273.hp2 HG02602.hp1 HG02630.hp1 HG02723.hp2 HG03041.hp1 HG03195.hp1 HG03834.hp2 NA19088.hp2 NA21309.hp1	a0002 a0003 a0004 others(10): Show a0002 a0003 a0004 a0005 a0012 a0013 a0015 a0018 a0043 a0069 a0083 a0084 a0089	a0002c0006 a0002c0043 a0002c0090 others(14): Show a0002c0006 a0002c0043 a0002c0090 a0003c0085 a0004c0053 a0005c0015 a0012c0025 a0012c0035 a0013c0012 a0015c0067 a0018c0026 a0018c0157 a0043c0136 a0069c0093 a0083c0051 a0084c0078 a0089c0062	a0002c0006t0001 a0002c0043t0001 a0002c0090t0001 others(14): Show a0002c0006t0001 a0002c0043t0001 a0002c0090t0001 a0003c0085t0001 a0004c0053t0001 a0005c0015t0001 a0012c0025t0001 a0012c0035t0001 a0013c0012t0001 a0015c0067t0001 a0018c0026t0002 a0018c0157t0002 a0043c0136t0003 a0069c0093t0001 a0083c0051t0002 a0084c0078t0006 a0089c0062t0001	a0002c0006t0001g0245 a0002c0043t0001g0113 a0002c0090t0001g0257 others(18): Show a0002c0006t0001g0245 a0002c0043t0001g0113 a0002c0090t0001g0257 a0003c0085t0001g0255 a0004c0053t0001g0096 a0005c0015t0001g0048 a0005c0015t0001g0069 a0012c0025t0001g0050 a0012c0025t0001g0051 a0012c0035t0001g0181 a0012c0035t0001g0182 a0013c0012t0001g0129 a0015c0067t0001g0107 a0018c0026t0002g0226 a0018c0026t0002g0266 a0018c0157t0002g0180 a0043c0136t0003g0020 a0069c0093t0001g0174 a0083c0051t0002g0047 a0084c0078t0006g0026 a0089c0062t0001g0067	21	282	0.0745	-61	c.129 others(76): Show c.1297-75_1297-15delCCTCTGCCGCGCAGGTGTGGGGCATCGCCT GGGTGGGGTGCGCTGGGCAGCTGTGCAGCCC		PIEZO1	ENSG00000103335.22	transcript	ENST00000301015.14	protein_coding	11/50						chr16	TogoVar
PIGN_chr18_62036164_62192056	62102487	CCAAATGA others(54): Show CCAAATGAGGACAATGTAGAATCTCAGTCCAGATGAAGCCCTTTTCAGTT CAACTTTTTGGT	C C	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02723.hp1 HG03540.hp2 others(3): Show HG01516.hp1 HG02723.hp1 HG03540.hp2 HG03942.hp1 HG04228.hp1 NA19240.hp2	a0001 a0004 a0001 a0004	a0001c0003 a0004c0007 a0001c0003 a0004c0007	a0001c0003t0011 a0001c0003t0027 a0001c0003t0045 others(1): Show a0001c0003t0011 a0001c0003t0027 a0001c0003t0045 a0004c0007t0065	a0001c0003t0011g0103 a0001c0003t0011g0107 a0001c0003t0011g0108 others(3): Show a0001c0003t0011g0103 a0001c0003t0011g0107 a0001c0003t0011g0108 a0001c0003t0027g0102 a0001c0003t0045g0057 a0004c0007t0065g0004	6	342	0.0175	-61	c.196 others(78): Show c.1968+246_1968+306delACCAAAAAGTTGAACTGAAAAGGGCTTC ATCTGGACTGAGATTCTACATTGTCCTCATTTG		PIGN	ENSG00000197563.11	transcript	ENST00000640252.2	protein_coding	21/30						chr18	TogoVar
PJA2_chr5_109329722_109414974	109353725	CCTATATC others(54): Show CCTATATCTAGATATCTAGATTAGATATCTATGATATCTAGAGATATCTA TAGATTAGATGT	C C	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG03225.hp1 HG03225.hp2 others(1): Show HG01496.hp2 HG03225.hp1 HG03225.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0326 others(1): Show a0001c0001t0001g0195 a0001c0001t0001g0196 a0001c0001t0001g0326 a0002c0002t0001g0193	4	346	0.0116	-61	c.176 others(80): Show c.1764+2129_1764+2189delACATCTAATCTATAGATATCTCTAGA TATCATAGATATCTAATCTAGATATCTAGATATAG		PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	7/9						chr5	TogoVar
PKP3_chr11_389209_409908	401146	CACCTGCC others(54): Show CACCTGCCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGGCCCGCTCA	C C	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	216	0.0046	-61	c.173 others(78): Show c.1737+442_1737+502delACCTGCCCCGCTCACACCCGGCCCCGCT CACACCCGGCCCCGCTCACACCCGGCCCGCTCA		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12						chr11	TogoVar
PKP3_chr11_389209_409908	401315	CCCCCGGC others(54): Show CCCCCGGCCCGCTCACACCCGGCCCCGCTCACACCCGGCCCCGCTCACAC CCGCCCCGCTCA	C C	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0065	1	216	0.0046	-61	c.173 others(78): Show c.1737+615_1737+675delGGCCCGCTCACACCCGGCCCCGCTCACA CCCGGCCCCGCTCACACCCGCCCCGCTCACCCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401382	GGCCCCGC others(54): Show GGCCCCGCTCACACCCGCCCCGCTCACACCCGGCCCCGCTCACACCCGGC CCGCTCACACCC	G G	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01884.hp2 HG01934.hp1 others(32): Show HG01358.hp1 HG01884.hp2 HG01934.hp1 HG01975.hp1 HG01981.hp2 HG02109.hp1 HG02132.hp2 HG02451.hp2 HG02630.hp1 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG03239.hp1 HG03239.hp2 HG03516.hp2 HG03704.hp1 HG04199.hp1 HG04204.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp1 NA18966.hp1 NA18983.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp2 NA19007.hp2 NA19011.hp2 NA19054.hp1 NA19067.hp1 NA19085.hp1 NA19087.hp1 NA19088.hp1 NA19088.hp2 NA20805.hp1	a0001 a0004 a0008 others(1): Show a0001 a0004 a0008 a0018	a0001c0001 a0001c0005 a0001c0009 others(5): Show a0001c0001 a0001c0005 a0001c0009 a0001c0011 a0001c0018 a0004c0015 a0008c0024 a0018c0026	a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 others(5): Show a0001c0001t0001 a0001c0005t0001 a0001c0009t0001 a0001c0011t0001 a0001c0018t0001 a0004c0015t0001 a0008c0024t0002 a0018c0026t0004	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 others(32): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0028 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0088 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0005t0001g0091 a0001c0009t0001g0130 a0001c0011t0001g0033 a0001c0018t0001g0059 a0004c0015t0001g0042 a0008c0024t0002g0022 a0018c0026t0004g0092	35	216	0.1620	-61	c.173 others(78): Show c.1737+709_1737+769delGCCCCGCTCACACCCGGCCCGCTCACAC CCGCCCCGCTCACACCCGCCCCGCTCACACCCG		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401460	CCCCGCTC others(54): Show CCCCGCTCACACCCGCCCCGCTCACCCCCGGCCCCGCTCACCCCCGGCCC CGTTCACACCCG	C C	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	216	0.0046	-61	c.173 others(78): Show c.1737+759_1737+819delGCTCACACCCGCCCCGCTCACCCCCGGC CCCGCTCACCCCCGGCCCCGTTCACACCCGCCC		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	402545	CACCCCCG others(54): Show CACCCCCGACCCCCGGCCCCGCTCACCCCCGGCCCCGCTCACCCCGACCC CGCTCACCCCCG	C C	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0193 a0001c0008t0001g0193	1	216	0.0046	-61	c.173 others(78): Show c.1738-525_1738-465delACCCCCGGCCCCGCTCACCCCCGGCCCC GCTCACCCCGACCCCGCTCACCCCCGACCCCCG		PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12					INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCXD1_chrX_276381_308356	280475	AGGGAGGC others(54): Show AGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAGGGGGCAGCGGAGGCC GTGCAGGGGGAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18612.hp1 NA18612.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0084 a0001c0001t0005g0084	1	176	0.0057	-61	c.-12 others(72): Show c.-1230_-1170delGGGAGGCCGTGCAGGCGGAGGGGGGTACGTGCAG GGGGCAGCGGAGGCCGTGCAGGGGGAG		PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding					905		chrX	TogoVar

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