Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PTPRG_chr3_61556571_62302609	62265896	T T	TATACACA others(17): Show TATACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02698.hp1 HG02698.hp2 HG01071.hp1 HG02698.hp1 HG02698.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0002c0003t0008 a0001c0001t0002 a0002c0003t0008	a0001c0001t0002g0047 a0001c0001t0002g0062 a0002c0003t0008g0019 a0001c0001t0002g0047 a0001c0001t0002g0062 a0002c0003t0008g0019	3	94	0.0319	24	c.265 others(43): Show c.2657-1513_2657-1512insTACACACACACACACACACACACA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRG_chr3_61556571_62302609	62265896	T T	TATATACA others(17): Show TATATACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0052 a0002c0003t0002g0052	1	94	0.0106	24	c.265 others(43): Show c.2657-1513_2657-1512insTATACACACACACACACACACACA	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	17/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PTPRJ_chr11_47975559_48175839	48159122	G G	GGGGTGTG others(17): Show GGGGTGTGTGTGTCTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00621.hp1 HG00733.hp2 others(21): Show HG00408.hp2 HG00621.hp1 HG00733.hp2 HG01070.hp1 HG01071.hp2 HG01258.hp1 HG01515.hp2 HG01517.hp2 HG02976.hp2 HG03491.hp2 HG03492.hp2 HG03942.hp1 NA18522.hp1 NA18944.hp2 NA18945.hp1 NA18947.hp2 NA18951.hp1 NA18951.hp2 NA18959.hp1 NA18986.hp2 NA18990.hp1 NA18990.hp2 NA19007.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0003 a0001c0004 a0001c0005 others(3): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0015 a0002c0001	a0001c0003t0013 a0001c0004t0008 a0001c0004t0030 others(9): Show a0001c0003t0013 a0001c0004t0008 a0001c0004t0030 a0001c0005t0011 a0001c0005t0065 a0001c0006t0008 a0001c0015t0008 a0001c0015t0023 a0002c0001t0002 a0002c0001t0015 a0002c0001t0019 a0002c0001t0026	a0001c0003t0013g0075 a0001c0004t0008g0068 a0001c0004t0030g0065 others(21): Show a0001c0003t0013g0075 a0001c0004t0008g0068 a0001c0004t0030g0065 a0001c0004t0030g0066 a0001c0005t0011g0199 a0001c0005t0011g0204 a0001c0005t0065g0179 a0001c0006t0008g0064 a0001c0015t0008g0152 a0001c0015t0023g0153 a0002c0001t0002g0126 a0002c0001t0002g0127 a0002c0001t0002g0129 a0002c0001t0002g0130 a0002c0001t0002g0144 a0002c0001t0002g0157 a0002c0001t0002g0161 a0002c0001t0002g0162 a0002c0001t0002g0200 a0002c0001t0015g0163 a0002c0001t0015g0164 a0002c0001t0019g0181 a0002c0001t0026g0148 a0002c0001t0026g0190	24	216	0.1111	24	c.343 others(41): Show c.3439-807_3439-806insGGTGTGTGTGTCTGTGTGTGTGTG	PTPRJ	ENSG00000149177.15	transcript	ENST00000418331.7	protein_coding	21/24		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRK_chr6_127963785_128525599	128524019	A A	ATATATAT others(17): Show ATATATATCTCTCTCTATATATATC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	53	0.0189	24	c.-36 others(35): Show c.-3662_-3661insGATATATATAGAGAGAGATATATA	PTPRK	ENSG00000152894.15	transcript	ENST00000368226.9	protein_coding		3421		chr6	TogoVar
PTPRM_chr18_7562316_8411856	7834491	T T	TACACACA others(17): Show TACACACACACACACACACATACAC	intron_variant intron_variant	MODIFIER	HG01891.hp2 NA19240.hp1 HG01891.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0058 a0001c0005t0001g0009 a0001c0001t0001g0058 a0001c0005t0001g0009	2	80	0.0250	24	c.197 others(43): Show c.197-53596_197-53595insTACACACACACACACACACACACA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7834491	T T	TACACACA others(17): Show TACACACACACACACACATACACAC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01884.hp2 HG01928.hp1 others(3): Show HG01515.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG02280.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 others(1): Show a0001c0001t0001 a0001c0002t0002 a0001c0003t0002 a0001c0003t0003	a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0002t0002g0032 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0002t0002g0032 a0001c0002t0002g0056 a0001c0003t0002g0003 a0001c0003t0003g0071	6	80	0.0750	24	c.197 others(43): Show c.197-53598_197-53597insTACACACACACACACACACACACA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7834491	T T	TACACACA others(17): Show TACACACACATACACACACATACAC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02886.hp2 HG02723.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0063 a0001c0004t0002g0021 a0001c0004t0001g0063 a0001c0004t0002g0021	2	80	0.0250	24	c.197 others(43): Show c.197-53606_197-53605insTACACACACATACACACACACACA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7834528	A A	ACACACAC others(17): Show ACACACACACACACACACACACACT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0054 a0002c0007t0001g0054	1	80	0.0125	24	c.197 others(43): Show c.197-53577_197-53576insACACACACACACACACACACACTC	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7842947	T T	TATATATA others(17): Show TATATATATATATAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0021 a0001c0004t0002g0021	1	80	0.0125	24	c.197 others(43): Show c.197-45158_197-45157insTATATATATATAGAGAGAGAGAGA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7842947	T T	TATATATA others(17): Show TATATATATATATATAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0063 a0001c0004t0001g0063	1	80	0.0125	24	c.197 others(43): Show c.197-45158_197-45157insTATATATATATATAGAGAGAGAGA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7842947	T T	TATATATA others(17): Show TATATATATATATATATAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0074 a0001c0005t0003g0074	1	80	0.0125	24	c.197 others(43): Show c.197-45158_197-45157insTATATATATATATATAGAGAGAGA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	7984602	T T	TATATATA others(17): Show TATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0076 a0001c0005t0003g0076	1	80	0.0125	24	c.113 others(45): Show c.1132+29189_1132+29190insTATATATATATATATATACACACA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8289565	T T	TATATATA others(17): Show TATATATATACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0016 a0001c0004t0001g0016	1	80	0.0125	24	c.275 others(43): Show c.2755-6794_2755-6793insCATATATATATACACATATATATA	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRM_chr18_7562316_8411856	8372056	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0056 a0001c0002t0002g0056	1	80	0.0125	24	c.317 others(43): Show c.3171+1053_3171+1076dupTTTTTTTTTTTTTTTTTTTTTTTT	PTPRM	ENSG00000173482.17	transcript	ENST00000580170.6	protein_coding	24/32		INFO_REALIGN_3_PRIME	chr18	TogoVar
PTPRO_chr12_15317508_15603331	15319970	T T	TATACATA others(17): Show TATACATATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0014 a0001c0001t0001g0014	1	164	0.0061	24	c.-27 others(35): Show c.-2757_-2756insATACATATATATATATATATATAC	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding		2537		chr12	TogoVar
PTPRO_chr12_15317508_15603331	15319970	T T	TATATACA others(17): Show TATATACATATATATATATATATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG04184.hp1 HG02132.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0009 a0001c0002t0001 a0001c0001t0009 a0001c0002t0001	a0001c0001t0009g0015 a0001c0002t0001g0019 a0001c0001t0009g0015 a0001c0002t0001g0019	2	164	0.0122	24	c.-27 others(35): Show c.-2757_-2756insATATACATATATATATATATATAC	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding		2537		chr12	TogoVar
PTPRO_chr12_15317508_15603331	15448339	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18949.hp2 NA18949.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0013 a0001c0002t0001g0013	1	164	0.0061	24	c.76- others(41): Show c.76-35614_76-35613insAAAAAAAAAAAAAAAAAAAAAAAA	PTPRO	ENSG00000151490.15	transcript	ENST00000281171.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80514402	A A	ACACACAC others(17): Show ACACACACACACACACACACTCTCT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01928.hp2 HG01255.hp1 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0045 a0001c0001t0002g0072 a0001c0001t0001g0045 a0001c0001t0002g0072	2	178	0.0112	24	c.267 others(43): Show c.2678+3960_2678+3961insACACACACACACACACACTCTCTC	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	17/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80514402	A A	ACACACAC others(17): Show ACACACACACACACACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	178	0.0056	24	c.267 others(43): Show c.2678+3960_2678+3961insACACACACACACACACTCTCTCTC	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	17/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRQ_chr12_80439235_80685273	80607431	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG02572.hp2 HG02647.hp2 others(3): Show HG01074.hp2 HG02572.hp2 HG02647.hp2 HG02896.hp1 HG02897.hp1 NA19240.hp1	a0008 a0014 a0017 a0008 a0014 a0017	a0008c0005 a0014c0020 a0017c0027 a0008c0005 a0014c0020 a0017c0027	a0008c0005t0002 a0014c0020t0003 a0017c0027t0001 others(1): Show a0008c0005t0002 a0014c0020t0003 a0017c0027t0001 a0017c0027t0004	a0008c0005t0002g0139 a0008c0005t0002g0140 a0008c0005t0002g0143 others(3): Show a0008c0005t0002g0139 a0008c0005t0002g0140 a0008c0005t0002g0143 a0014c0020t0003g0171 a0017c0027t0001g0097 a0017c0027t0004g0095	6	178	0.0337	24	c.473 others(43): Show c.4731+2261_4731+2284dupTCCTTCCTTCCTTCCTTCCTTCCT	PTPRQ	ENSG00000139304.16	transcript	ENST00000644991.3	protein_coding	27/44		INFO_REALIGN_3_PRIME	chr12	TogoVar
PTPRR_chr12_70633079_70925738	70731074	A A	AAGAGAGA others(17): Show AAGAGAGAGGAAGGAAGGAGGAAGG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(83): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00609.hp1 HG00735.hp2 HG01081.hp2 HG01109.hp2 HG01257.hp2 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01496.hp2 HG01891.hp1 HG01943.hp1 HG01943.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02074.hp2 HG02083.hp1 HG02135.hp1 HG02135.hp2 HG02257.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp2 HG02615.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03209.hp2 HG03453.hp2 HG03491.hp2 HG03710.hp2 HG06807.hp2 NA18522.hp1 NA18941.hp1 NA18945.hp2 NA18947.hp1 NA18949.hp1 NA18953.hp1 NA18957.hp1 NA18964.hp1 NA18968.hp1 NA18975.hp2 NA18992.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp2 NA19002.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19058.hp2 NA19066.hp2 NA19078.hp1 NA19078.hp2 NA19085.hp1 NA19088.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0006 a0007 a0008 a0009 a0010 a0015 a0016	a0001c0001 a0001c0004 a0002c0002 others(10): Show a0001c0001 a0001c0004 a0002c0002 a0002c0010 a0002c0021 a0003c0003 a0006c0007 a0007c0008 a0008c0009 a0009c0011 a0010c0018 a0015c0015 a0016c0019	a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 others(11): Show a0001c0001t0001 a0001c0004t0001 a0002c0002t0001 a0002c0002t0003 a0002c0010t0001 a0002c0021t0001 a0003c0003t0001 a0006c0007t0001 a0007c0008t0001 a0008c0009t0001 a0009c0011t0001 a0010c0018t0001 a0015c0015t0001 a0016c0019t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0014 others(83): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0030 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0061 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0089 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0143 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0174 a0001c0001t0001g0177 a0001c0001t0001g0179 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0197 a0001c0004t0001g0042 a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0010 a0002c0002t0001g0011 a0002c0002t0001g0045 a0002c0002t0001g0067 a0002c0002t0001g0072 a0002c0002t0001g0086 a0002c0002t0001g0103 a0002c0002t0001g0109 a0002c0002t0001g0141 a0002c0002t0003g0162 a0002c0010t0001g0016 a0002c0021t0001g0075 a0003c0003t0001g0099 a0003c0003t0001g0196 a0006c0007t0001g0074 a0006c0007t0001g0084 a0006c0007t0001g0090 a0007c0008t0001g0062 a0008c0009t0001g0044 a0008c0009t0001g0081 a0009c0011t0001g0033 a0009c0011t0001g0034 a0010c0018t0001g0088 a0015c0015t0001g0191 a0016c0019t0001g0021	86	204	0.4216	24	c.100 others(45): Show c.1007+14720_1007+14743dupCCTTCCTCCTTCCTTCCTCTCTCT	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	6/13			chr12	TogoVar
PTPRR_chr12_70633079_70925738	70801742	A A	AATCTATC others(17): Show AATCTATCTATCTATCTATCTATCT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	204	0.0049	24	c.358 others(43): Show c.358-36965_358-36964insAGATAGATAGATAGATAGATAGAT	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	2/13			chr12	TogoVar
PTPRR_chr12_70633079_70925738	70821213	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	204	0.0049	24	c.358 others(43): Show c.358-56459_358-56436dupAAAAAAAAAAAAAAAAAAAAAAAA	PTPRR	ENSG00000153233.13	transcript	ENST00000283228.7	protein_coding	2/13			chr12	TogoVar
PTPRS_chr19_5200508_5345812	5228347	G G	GAAAAAAA others(17): Show GAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0016 a0001c0016t0016	a0001c0016t0016g0031 a0001c0016t0016g0031	1	276	0.0036	24	c.237 others(41): Show c.2376+968_2376+969insTTTTTTTTTTTTTTTTTTTTTTTT	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	16/37			chr19	TogoVar
PTPRS_chr19_5200508_5345812	5264167	C C	CTCTCTTG others(17): Show CTCTCTTGTCTTTGTCCCATGATGT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(174): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp2 HG01106.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02132.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02622.hp2 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03017.hp1 HG03209.hp1 HG03225.hp1 HG03239.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03669.hp2 HG03688.hp2 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18906.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp1 NA18949.hp2 NA18952.hp1 NA18952.hp2 NA18956.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18975.hp1 NA18975.hp2 NA18983.hp2 NA18990.hp1 NA18990.hp2 NA18999.hp2 NA19000.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19074.hp1 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19084.hp1 NA19084.hp2 NA19091.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp2	a0001 a0002 a0003 others(13): Show a0001 a0002 a0003 a0005 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018	a0001c0001 a0001c0002 a0001c0003 others(41): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0007 a0001c0008 a0001c0009 a0001c0011 a0001c0013 a0001c0014 a0001c0018 a0001c0020 a0001c0021 a0001c0022 a0001c0023 a0001c0026 a0001c0028 a0001c0033 a0001c0047 a0001c0050 a0001c0053 a0001c0055 a0001c0059 a0001c0069 a0001c0072 a0001c0074 a0002c0043 a0002c0044 a0002c0065 a0003c0071 a0005c0038 a0007c0064 a0008c0036 a0009c0039 a0010c0052 a0011c0057 a0012c0045 a0013c0049 a0014c0040 a0015c0061 a0016c0032 a0017c0042 a0018c0060	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(68): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0008 a0001c0001t0018 a0001c0001t0023 a0001c0001t0025 a0001c0001t0032 a0001c0001t0046 a0001c0001t0047 a0001c0002t0003 a0001c0002t0006 a0001c0002t0009 a0001c0002t0013 a0001c0002t0015 a0001c0002t0017 a0001c0002t0022 a0001c0003t0004 a0001c0003t0042 a0001c0003t0043 a0001c0004t0005 a0001c0004t0010 a0001c0005t0001 a0001c0005t0023 a0001c0007t0001 a0001c0007t0006 a0001c0008t0006 a0001c0008t0039 a0001c0009t0005 a0001c0009t0010 a0001c0011t0028 a0001c0013t0014 a0001c0013t0026 a0001c0013t0038 a0001c0013t0040 a0001c0014t0001 a0001c0018t0001 a0001c0020t0001 a0001c0021t0011 a0001c0021t0012 a0001c0022t0009 a0001c0023t0019 a0001c0026t0001 a0001c0028t0019 a0001c0033t0001 a0001c0047t0029 a0001c0050t0002 a0001c0053t0001 a0001c0055t0014 a0001c0059t0001 a0001c0069t0001 a0001c0072t0001 a0001c0074t0004 a0002c0043t0025 a0002c0044t0003 a0002c0065t0001 a0003c0071t0013 a0005c0038t0001 a0007c0064t0004 a0008c0036t0002 a0009c0039t0002 a0010c0052t0001 a0011c0057t0002 a0012c0045t0001 a0013c0049t0031 a0014c0040t0006 a0015c0061t0004 a0016c0032t0002 a0017c0042t0002 a0018c0060t0004	a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 others(174): Show a0001c0001t0001g0007 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0060 a0001c0001t0001g0080 a0001c0001t0001g0090 a0001c0001t0001g0095 a0001c0001t0001g0097 a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0001g0131 a0001c0001t0001g0134 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0185 a0001c0001t0001g0188 a0001c0001t0001g0194 a0001c0001t0001g0198 a0001c0001t0001g0202 a0001c0001t0001g0205 a0001c0001t0001g0219 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0226 a0001c0001t0001g0228 a0001c0001t0001g0232 a0001c0001t0001g0239 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0270 a0001c0001t0002g0003 a0001c0001t0002g0038 a0001c0001t0002g0086 a0001c0001t0002g0094 a0001c0001t0002g0105 a0001c0001t0002g0107 a0001c0001t0002g0158 a0001c0001t0002g0165 a0001c0001t0002g0177 a0001c0001t0002g0191 a0001c0001t0002g0195 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0220 a0001c0001t0002g0227 a0001c0001t0002g0229 a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0241 a0001c0001t0002g0249 a0001c0001t0002g0256 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0003g0074 a0001c0001t0006g0076 a0001c0001t0008g0103 a0001c0001t0008g0152 a0001c0001t0008g0175 a0001c0001t0008g0225 a0001c0001t0008g0245 a0001c0001t0008g0269 a0001c0001t0018g0130 a0001c0001t0023g0276 a0001c0001t0025g0184 a0001c0001t0032g0244 a0001c0001t0046g0257 a0001c0001t0047g0161 a0001c0002t0003g0093 a0001c0002t0003g0104 a0001c0002t0003g0108 a0001c0002t0003g0112 a0001c0002t0003g0117 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0169 a0001c0002t0003g0173 a0001c0002t0003g0181 a0001c0002t0003g0193 a0001c0002t0003g0199 a0001c0002t0003g0211 a0001c0002t0003g0236 a0001c0002t0003g0240 a0001c0002t0006g0238 a0001c0002t0009g0119 a0001c0002t0009g0122 a0001c0002t0009g0150 a0001c0002t0009g0255 a0001c0002t0009g0264 a0001c0002t0013g0013 a0001c0002t0013g0163 a0001c0002t0015g0221 a0001c0002t0017g0005 a0001c0002t0017g0168 a0001c0002t0017g0196 a0001c0002t0022g0008 a0001c0002t0022g0128 a0001c0003t0004g0061 a0001c0003t0004g0062 a0001c0003t0004g0079 a0001c0003t0004g0085 a0001c0003t0004g0140 a0001c0003t0004g0164 a0001c0003t0004g0190 a0001c0003t0004g0200 a0001c0003t0004g0254 a0001c0003t0004g0259 a0001c0003t0042g0051 a0001c0003t0043g0263 a0001c0004t0005g0065 a0001c0004t0005g0113 a0001c0004t0005g0172 a0001c0004t0010g0129 a0001c0005t0001g0063 a0001c0005t0001g0155 a0001c0005t0001g0182 a0001c0005t0001g0214 a0001c0005t0001g0215 a0001c0005t0023g0213 a0001c0007t0001g0120 a0001c0007t0001g0266 a0001c0007t0006g0004 a0001c0007t0006g0082 a0001c0007t0006g0114 a0001c0008t0006g0024 a0001c0008t0006g0166 a0001c0008t0039g0067 a0001c0009t0005g0127 a0001c0009t0010g0057 a0001c0011t0028g0118 a0001c0013t0014g0028 a0001c0013t0026g0072 a0001c0013t0038g0083 a0001c0013t0040g0087 a0001c0014t0001g0019 a0001c0014t0001g0144 a0001c0018t0001g0224 a0001c0018t0001g0231 a0001c0020t0001g0147 a0001c0020t0001g0178 a0001c0021t0011g0139 a0001c0021t0012g0137 a0001c0022t0009g0156 a0001c0023t0019g0002 a0001c0026t0001g0162 a0001c0028t0019g0052 a0001c0033t0001g0186 a0001c0047t0029g0021 a0001c0050t0002g0176 a0001c0053t0001g0143 a0001c0055t0014g0056 a0001c0059t0001g0212 a0001c0069t0001g0197 a0001c0072t0001g0009 a0001c0074t0004g0006 a0002c0043t0025g0183 a0002c0044t0003g0189 a0002c0065t0001g0275 a0003c0071t0013g0151 a0005c0038t0001g0029 a0007c0064t0004g0135 a0008c0036t0002g0246 a0009c0039t0002g0092 a0010c0052t0001g0123 a0011c0057t0002g0230 a0012c0045t0001g0253 a0013c0049t0031g0096 a0014c0040t0006g0081 a0015c0061t0004g0203 a0016c0032t0002g0258 a0017c0042t0002g0204 a0018c0060t0004g0201	177	276	0.6413	24	c.568 others(39): Show c.568+840_568+841insACATCATGGGACAAAGACAAGAGA	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	5/37			chr19	TogoVar
PTPRS_chr19_5200508_5345812	5307394	A A	ATCTTAGT others(17): Show ATCTTAGTGTTATGAGATCAGTATC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0122 a0001c0002t0009g0122	1	276	0.0036	24	c.-94 others(43): Show c.-94-21184_-94-21161dupGATACTGATCTCATAACACTAAGA	PTPRS	ENSG00000105426.19	transcript	ENST00000262963.11	protein_coding	1/37			chr19	TogoVar
PTPRT_chr20_42067756_43194906	42086753	A A	AAAAAATA others(17): Show AAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0039 a0001c0002t0006g0039	1	62	0.0161	24	c.384 others(41): Show c.3847-901_3847-900insATATATATATATATATATATTTTT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	27/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42404972	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00741.hp1 HG01109.hp1 others(2): Show HG00140.hp1 HG00741.hp1 HG01109.hp1 HG01496.hp1 HG03209.hp2	a0002 a0005 a0002 a0005	a0002c0001 a0002c0004 a0002c0015 others(1): Show a0002c0001 a0002c0004 a0002c0015 a0005c0017	a0002c0001t0003 a0002c0001t0010 a0002c0004t0024 others(2): Show a0002c0001t0003 a0002c0001t0010 a0002c0004t0024 a0002c0015t0001 a0005c0017t0017	a0002c0001t0003g0008 a0002c0001t0010g0024 a0002c0004t0024g0006 others(2): Show a0002c0001t0003g0008 a0002c0001t0010g0024 a0002c0004t0024g0006 a0002c0015t0001g0013 a0005c0017t0017g0022	5	62	0.0807	24	c.156 others(45): Show c.1560+43247_1560+43248insTATATATATATATATATATATATA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	9/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42404972	T T	TTTTATAT others(17): Show TTTTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03195.hp1 HG03209.hp1 others(1): Show HG02809.hp2 HG03195.hp1 HG03209.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0007 a0001c0008 a0002c0005 others(1): Show a0001c0007 a0001c0008 a0002c0005 a0002c0014	a0001c0007t0004 a0001c0008t0005 a0002c0005t0012 others(1): Show a0001c0007t0004 a0001c0008t0005 a0002c0005t0012 a0002c0014t0007	a0001c0007t0004g0062 a0001c0008t0005g0037 a0002c0005t0012g0009 others(1): Show a0001c0007t0004g0062 a0001c0008t0005g0037 a0002c0005t0012g0009 a0002c0014t0007g0004	4	62	0.0645	24	c.156 others(45): Show c.1560+43247_1560+43248insTATATATATATATATATATATAAA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	9/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42508125	T T	TTGTGTGT others(17): Show TTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03471.hp2 HG03195.hp1 HG03471.hp2	a0001 a0001	a0001c0007 a0001c0022 a0001c0007 a0001c0022	a0001c0007t0004 a0001c0022t0021 a0001c0007t0004 a0001c0022t0021	a0001c0007t0004g0062 a0001c0022t0021g0045 a0001c0007t0004g0062 a0001c0022t0021g0045	2	62	0.0323	24	c.115 others(45): Show c.1154-35564_1154-35563insCACACACACACACACACACACACA	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42624005	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0005 a0007c0012t0005	a0007c0012t0005g0017 a0007c0012t0005g0017	1	62	0.0161	24	c.115 others(45): Show c.1153+53860_1153+53861insTTTTTTTTTTTTTTTTTTTTTTTT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42624005	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAACA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp1	a0005 a0005	a0005c0017 a0005c0017	a0005c0017t0017 a0005c0017t0017	a0005c0017t0017g0022 a0005c0017t0017g0022	1	62	0.0161	24	c.115 others(45): Show c.1153+53860_1153+53861insTGTTTTTTTTTTTTTTTTTTTTTT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	42624005	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAACAAACA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0040 a0001c0002t0003g0040	1	62	0.0161	24	c.115 others(45): Show c.1153+53860_1153+53861insTGTTTGTTTTTTTTTTTTTTTTTT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	7/30			chr20	TogoVar
PTPRT_chr20_42067756_43194906	43083351	T T	TATACATA others(17): Show TATACATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0029 a0001c0029	a0001c0029t0013 a0001c0029t0013	a0001c0029t0013g0057 a0001c0029t0013g0057	1	62	0.0161	24	c.88+ others(43): Show c.88+106294_88+106295insGTATATATATATATATATATGTAT	PTPRT	ENSG00000196090.14	transcript	ENST00000373187.6	protein_coding	1/30			chr20	TogoVar
PTPRU_chr1_29231522_29331800	29237637	C C	CGGGCAGG others(17): Show CGGGCAGGGCCCGAGGCTCAGGGGA	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01070.hp1	a0005 a0005	a0005c0033 a0005c0033	a0005c0033t0001 a0005c0033t0001	a0005c0033t0001g0283 a0005c0033t0001g0283	1	296	0.0034	24	c.73+ others(37): Show c.73+923_73+946dupGCAGGGCCCGAGGCTCAGGGGAGG	PTPRU	ENSG00000060656.20	transcript	ENST00000373779.8	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPRU_chr1_29231522_29331800	29277803	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0003 a0001c0005t0003	a0001c0005t0003g0250 a0001c0005t0003g0250	1	296	0.0034	24	c.145 others(43): Show c.1454-1199_1454-1176dupTTTTTTTTTTTTTTTTTTTTTTTT	PTPRU	ENSG00000060656.20	transcript	ENST00000373779.8	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr1	TogoVar
PTPRZ1_chr7_121868161_122067036	121905650	T T	TACACACA others(17): Show TACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01106.hp2 HG01255.hp2 others(8): Show HG00738.hp1 HG01106.hp2 HG01255.hp2 HG01361.hp2 HG01496.hp2 HG01978.hp2 HG02257.hp2 HG02630.hp1 HG03139.hp2 NA18970.hp2 NA19007.hp2	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0007 a0013	a0001c0001 a0004c0005 a0005c0004 others(2): Show a0001c0001 a0004c0005 a0005c0004 a0007c0016 a0013c0017	a0001c0001t0002 a0004c0005t0002 a0005c0004t0002 others(2): Show a0001c0001t0002 a0004c0005t0002 a0005c0004t0002 a0007c0016t0006 a0013c0017t0003	a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0110 others(8): Show a0001c0001t0002g0051 a0001c0001t0002g0052 a0001c0001t0002g0110 a0004c0005t0002g0043 a0005c0004t0002g0038 a0005c0004t0002g0039 a0005c0004t0002g0040 a0005c0004t0002g0106 a0005c0004t0002g0127 a0007c0016t0006g0213 a0013c0017t0003g0182	11	312	0.0353	24	c.59- others(41): Show c.59-22502_59-22479dupCACACACACACACACACACACACA	PTPRZ1	ENSG00000106278.12	transcript	ENST00000393386.7	protein_coding	1/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
PUDP_chrX_7043920_7153153	7098836	G G	GGCCAAGA others(17): Show GGCCAAGAGATGCAGGGGAGAGCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00323.hp2 HG00558.hp1 others(152): Show HG00099.hp2 HG00323.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG00741.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01192.hp1 HG01256.hp1 HG01257.hp2 HG01361.hp1 HG01433.hp1 HG01515.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01934.hp1 HG01952.hp1 HG02015.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp1 HG02080.hp2 HG02129.hp1 HG02135.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02273.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02698.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03540.hp1 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03831.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp1 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18941.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18945.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp1 NA18964.hp1 NA18964.hp2 NA18966.hp1 NA18967.hp1 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18974.hp1 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18980.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp1 NA18987.hp1 NA18988.hp1 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA18997.hp1 NA18997.hp2 NA18998.hp2 NA18999.hp2 NA19002.hp1 NA19003.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19012.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19063.hp1 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19070.hp1 NA19072.hp1 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19081.hp1 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp1 NA19087.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0004 a0005 a0006	a0001c0001 a0001c0005 a0001c0006 others(5): Show a0001c0001 a0001c0005 a0001c0006 a0002c0003 a0003c0004 a0004c0009 a0005c0008 a0006c0010	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 others(10): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0005t0009 a0001c0005t0011 a0001c0006t0001 a0002c0003t0002 a0002c0003t0008 a0002c0003t0013 a0003c0004t0002 a0004c0009t0001 a0005c0008t0002 a0006c0010t0010	a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 others(139): Show a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0006g0010 a0001c0001t0006g0110 a0001c0001t0006g0111 a0001c0001t0006g0112 a0001c0001t0006g0113 a0001c0001t0006g0114 a0001c0001t0006g0117 a0001c0001t0006g0118 a0001c0001t0006g0119 a0001c0001t0006g0177 a0001c0001t0007g0115 a0001c0001t0007g0116 a0001c0005t0009g0103 a0001c0005t0011g0100 a0001c0006t0001g0011 a0002c0003t0002g0002 a0002c0003t0002g0004 a0002c0003t0002g0005 a0002c0003t0002g0006 a0002c0003t0002g0007 a0002c0003t0002g0009 a0002c0003t0002g0019 a0002c0003t0002g0034 a0002c0003t0002g0037 a0002c0003t0002g0038 a0002c0003t0002g0039 a0002c0003t0002g0041 a0002c0003t0002g0042 a0002c0003t0002g0043 a0002c0003t0002g0044 a0002c0003t0002g0046 a0002c0003t0002g0047 a0002c0003t0002g0048 a0002c0003t0002g0049 a0002c0003t0002g0050 a0002c0003t0002g0051 a0002c0003t0002g0052 a0002c0003t0002g0053 a0002c0003t0002g0054 a0002c0003t0002g0056 a0002c0003t0002g0057 a0002c0003t0002g0058 a0002c0003t0002g0060 a0002c0003t0002g0061 a0002c0003t0002g0062 a0002c0003t0002g0063 a0002c0003t0002g0064 a0002c0003t0002g0065 a0002c0003t0002g0066 a0002c0003t0002g0067 a0002c0003t0002g0068 a0002c0003t0002g0070 a0002c0003t0002g0071 a0002c0003t0002g0072 a0002c0003t0002g0073 a0002c0003t0002g0074 a0002c0003t0002g0075 a0002c0003t0002g0076 a0002c0003t0002g0077 a0002c0003t0002g0079 a0002c0003t0002g0080 a0002c0003t0002g0081 a0002c0003t0002g0087 a0002c0003t0002g0106 a0002c0003t0008g0059 a0002c0003t0013g0102 a0003c0004t0002g0036 a0003c0004t0002g0045 a0003c0004t0002g0179 a0003c0004t0002g0180 a0003c0004t0002g0181 a0004c0009t0001g0016 a0005c0008t0002g0182 a0006c0010t0010g0141	155	260	0.5962	24	c.280 others(41): Show c.280+6783_280+6784insTGGCTCTCCCCTGCATCTCTTGGC	PUDP	ENSG00000130021.15	transcript	ENST00000381077.10	protein_coding	2/3			chrX	TogoVar
PUM1_chr1_30926506_31070717	30927052	T T	TAGAACAG others(17): Show TAGAACAGTATTACATTTAAATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0122 a0001c0001t0012g0122	1	334	0.0030	24	c.61 others(35): Show c.6158_*6159insGTTATTTAAATGTAATACTGTTCT	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding		4453		chr1	TogoVar
PUM1_chr1_30926506_31070717	30933428	T T	TCACACAC others(17): Show TCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0196 a0001c0001t0007g0196	1	334	0.0030	24	c.343 others(39): Show c.3436-87_3436-86insTGTGTGTGTGTGTGTGTGTGTGTG	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	21/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038956	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp2 NA20805.hp1 HG02486.hp1 HG02717.hp2 NA20805.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0109 a0001c0002t0001g0253 a0001c0002t0001g0023 a0001c0002t0001g0109 a0001c0002t0001g0253	3	334	0.0090	24	c.364 others(43): Show c.364-10093_364-10092insTATATATATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(17): Show ATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0119 a0001c0001t0005g0119	1	334	0.0030	24	c.364 others(43): Show c.364-10121_364-10120insAAAAAATATATATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(17): Show ATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0196 a0001c0001t0007g0196	1	334	0.0030	24	c.364 others(43): Show c.364-10121_364-10120insAAAAAAAAAAAATATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(17): Show ATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 NA18522.hp1 NA20129.hp2 HG02818.hp1 NA18522.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0020 a0001c0001t0001 a0001c0001t0002 a0001c0001t0020	a0001c0001t0001g0190 a0001c0001t0002g0081 a0001c0001t0020g0079 a0001c0001t0001g0190 a0001c0001t0002g0081 a0001c0001t0020g0079	3	334	0.0090	24	c.364 others(43): Show c.364-10121_364-10120insAAAAAAAAAAAAAATATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM1_chr1_30926506_31070717	31038984	A A	ATATATAT others(17): Show ATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0142 a0001c0001t0002g0142	1	334	0.0030	24	c.364 others(43): Show c.364-10121_364-10120insAAAAAAAAAAAAAAAATATATATA	PUM1	ENSG00000134644.16	transcript	ENST00000426105.7	protein_coding	2/21			chr1	TogoVar
PUM2_chr2_20243737_20355844	20264365	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0210 a0001c0001t0003g0210	1	358	0.0028	24	c.195 others(41): Show c.1958-906_1958-905insATATATATATATATATATATATAT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUM2_chr2_20243737_20355844	20274957	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG02083.hp1 HG02523.hp2 others(8): Show HG01175.hp1 HG02083.hp1 HG02523.hp2 HG02965.hp2 HG04115.hp1 NA19043.hp2 NA19058.hp1 NA19058.hp2 NA19083.hp2 NA19084.hp1 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0010 a0001c0005t0003	a0001c0001t0001g0019 a0001c0001t0001g0069 a0001c0001t0001g0091 others(8): Show a0001c0001t0001g0019 a0001c0001t0001g0069 a0001c0001t0001g0091 a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0189 a0001c0001t0001g0195 a0001c0001t0001g0225 a0001c0001t0003g0187 a0001c0001t0010g0351 a0001c0005t0003g0176	11	358	0.0307	24	c.195 others(43): Show c.1957+3625_1957+3626insTTTTTTTTTTTTTTTTTTTTTTTT	PUM2	ENSG00000055917.17	transcript	ENST00000361078.7	protein_coding	13/20			chr2	TogoVar
PUS1_chr12_131924276_131950896	131927112	G G	GGAGAGGG others(17): Show GGAGAGGGAGAGCGAGAGCGAGAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0045 a0001c0001t0001g0045	1	382	0.0026	24	c.-26 others(35): Show c.-2611_-2610insGAGAGGGAGAGCGAGAGCGAGAGC	PUS1	ENSG00000177192.14	transcript	ENST00000376649.8	protein_coding		2163		chr12	TogoVar
PUS7L_chr12_43713992_43763790	43718807	A A	AAAAAAAA others(17): Show AAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0005 a0009c0016t0005	a0009c0016t0005g0112 a0009c0016t0005g0112	1	306	0.0033	24	c.11 others(37): Show c.11568_*11569insATATATATATATATATATTTTTTT	PUS7L	ENSG00000129317.15	transcript	ENST00000344862.10	protein_coding		184		chr12	TogoVar
PUS7_chr7_105451503_105527271	105455576	A A	AATATATA others(17): Show AATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02615.hp2 HG02622.hp2 others(3): Show HG00673.hp2 HG02615.hp2 HG02622.hp2 HG02970.hp2 HG03486.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0010	a0001c0001t0001g0046 a0001c0001t0001g0204 a0001c0001t0001g0208 others(3): Show a0001c0001t0001g0046 a0001c0001t0001g0204 a0001c0001t0001g0208 a0001c0001t0003g0248 a0001c0001t0005g0036 a0001c0001t0010g0289	6	350	0.0171	24	c.21 others(35): Show c.2190_*2213dupATATATATATATATATATATATAT	PUS7	ENSG00000091127.14	transcript	ENST00000469408.6	protein_coding		926		chr7	TogoVar

Search by Variant

Search

Search Results