Joint Open Genome and Omics Platform (JoGo)

Search Results

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
OSBPL10_chr3_31655825_31986262	31898904	ATATTCAA others(44): Show ATATTCAACTGGGTTTGGGAGAAAGTTTAAGACAGTTAACTTTAAACCTT TT	A A	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0005 a0001c0009t0005	a0001c0009t0005g0169 a0001c0009t0005g0169	1	186	0.0054	-51	c.282 others(70): Show c.282-19125_282-19075delAAAAGGTTTAAAGTTAACTGTCTTAA ACTTTCTCCCAAACCCAGTTGAATA	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11			chr3	TogoVar
OSBPL10_chr3_31655825_31986262	31965525	TTATATTA others(44): Show TTATATTATATAAATTATATATTATATATTATATAAATTATATATTATAT AA	T T	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02895.hp2 HG03453.hp1 others(1): Show HG02015.hp2 HG02895.hp2 HG03453.hp1 NA18984.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0003 others(1): Show a0001c0001 a0001c0006 a0002c0003 a0002c0005	a0001c0001t0001 a0001c0006t0002 a0002c0003t0001 others(1): Show a0001c0001t0001 a0001c0006t0002 a0002c0003t0001 a0002c0005t0002	a0001c0001t0001g0068 a0001c0006t0002g0017 a0002c0003t0001g0047 others(1): Show a0001c0001t0001g0068 a0001c0006t0002g0017 a0002c0003t0001g0047 a0002c0005t0002g0050	4	186	0.0215	-51	c.281 others(70): Show c.281+15323_281+15373delTTATATAATATATAATTTATATAATA TATAATATATAATTTATATAATATA	OSBPL10	ENSG00000144645.16	transcript	ENST00000396556.7	protein_coding	1/11			chr3	TogoVar
OVOL3_chr19_36106143_36118711	36108517	TTTTGCAG others(44): Show TTTTGCAGATGACCCACCTGAGGCCTGGATGTTTGCCCAGAGGAGGGATT CC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp2 HG01884.hp1 HG02257.hp1 others(7): Show HG01256.hp2 HG01884.hp1 HG02257.hp1 HG02809.hp2 HG02965.hp1 HG03209.hp2 HG03453.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0001 a0001c0001t0001 a0001c0004t0001	a0001c0001t0001g0003 a0001c0004t0001g0002 a0001c0004t0001g0007 a0001c0001t0001g0003 a0001c0004t0001g0002 a0001c0004t0001g0007	10	450	0.0222	-51	c.-26 others(62): Show c.-2685_-2635delTTTGCAGATGACCCACCTGAGGCCTGGATGTTTG CCCAGAGGAGGGATTCC	OVOL3	ENSG00000105261.8	transcript	ENST00000633214.2	protein_coding		2625		chr19	TogoVar
PAAF1_chr11_73871999_73936114	73896900	GGACGGGG others(44): Show GGACGGGGCGGCTGGCCGGACGGGGGGGCTGACCCCCCAGACCTCCCTCC CC	G G	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	370	0.0027	-51	c.283 others(68): Show c.283-2227_283-2177delACGGGGGGGCTGACCCCCCAGACCTCCC TCCCCGACGGGGCGGCTGGCCGG	PAAF1	ENSG00000175575.13	transcript	ENST00000310571.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PAFAH1B2_chr11_117139287_117176045	117172366	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATTTTTTTTTTT TT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0094 a0001c0001t0094	a0001c0001t0094g0025 a0001c0001t0094g0025	1	432	0.0023	-51	c.46 others(62): Show c.4668_*4718delTATATATATATATATATATATATATATATATATA TATATTTTTTTTTTTTT	PAFAH1B2	ENSG00000168092.14	transcript	ENST00000527958.6	protein_coding		1322		chr11	TogoVar
PALMD_chr1_99641113_99699535	99683040	GAAAGAAA others(44): Show GAAAGAAAGAAAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GA	G G	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0052 a0001c0001t0001g0052	1	380	0.0026	-51	c.252 others(68): Show c.252-3633_252-3583delAGAAAGAAAGAAAGAGAGAGAGAGAGAG AGAGAGAGAGAGAGAGAGAGAAA	PALMD	ENSG00000099260.12	transcript	ENST00000263174.9	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAN3_chr13_28133545_28300335	28257727	ATTATATA others(44): Show ATTATATATAAATTATATATAATATATAATTAATTATATATTATATATAA AT	A A	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03942.hp2 HG03831.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0007 a0001c0001t0005 a0001c0001t0007	a0001c0001t0005g0182 a0001c0001t0007g0183 a0001c0001t0005g0182 a0001c0001t0007g0183	2	252	0.0079	-51	c.124 others(70): Show c.1248+1190_1248+1240delTATATATAAATTATATATAATATATA ATTAATTATATATTATATATAAATT	PAN3	ENSG00000152520.14	transcript	ENST00000380958.8	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr13	TogoVar
PANK1_chr10_89577988_89650242	89581069	ATGGTGGA others(44): Show ATGGTGGATCTTTGTTCTGTTTACTGCTGTGAATGTGAATGAATAAATGA TT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 HG03195.hp1 HG02976.hp2 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0212 a0001c0001t0001g0213	2	366	0.0055	-51	c.32 others(62): Show c.3286_*3336delAATCATTTATTCATTCACATTCACAGCAGTAAAC AGAACAAAGATCCACCA	PANK1	ENSG00000152782.19	transcript	ENST00000307534.10	protein_coding		1918		chr10	TogoVar
PAPPA_chr9_116148791_116407321	116289135	TATATATA others(44): Show TATATATATATATATATATATATATAGCATATATATATAGCATATATGTA GC	T T	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0161 a0001c0001t0012g0161	1	234	0.0043	-51	c.295 others(72): Show c.2954-13612_2954-13562delTATATATATATATATAGCATATAT ATATAGCATATATGTAGCATATATATA	PAPPA	ENSG00000182752.10	transcript	ENST00000328252.4	protein_coding	9/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PAPSS1_chr4_107608666_107725234	107721701	TGCTGCTG others(44): Show TGCTGCTGCCTGTTAGTGACTAGCAAATCAGCCCCCATCACCAAGACCTG AG	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19010.hp2 NA19010.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	276	0.0036	-51	c.-15 others(62): Show c.-1573_-1523delCTCAGGTCTTGGTGATGGGGGCTGATTTGCTAGT CACTAACAGGCAGCAGC	PAPSS1	ENSG00000138801.9	transcript	ENST00000265174.5	protein_coding		1468		chr4	TogoVar
PAQR5_chr15_69293912_69412780	69355337	TTTCTTTT others(44): Show TTTCTTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT TC	T T	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0251 a0001c0001t0006g0251	1	284	0.0035	-51	c.-11 others(70): Show c.-115-4627_-115-4577delTCTTTTTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTTTCT	PAQR5	ENSG00000137819.14	transcript	ENST00000395407.7	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr15	TogoVar
PARP12_chr7_140018749_140067951	140035996	GAGGAGAA others(44): Show GAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGAGAAGGAGGA GA	G G	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0183 a0001c0003t0003g0183	1	360	0.0028	-51	c.132 others(70): Show c.1324+1668_1325-1666delTCTCCTCCTTCTCCTCCTTCTCCTCC TTCTCCTCCTTCTCCTCCTTCTCCT	PARP12	ENSG00000059378.13	transcript	ENST00000263549.8	protein_coding	7/11			chr7	TogoVar
PARP1_chr1_226355691_226413093	226356303	TATTCAAA others(44): Show TATTCAAATCTAAAAAGCCCAGCCTGGTCCCTGGGTGAGTACCACATGGC TA	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01167.hp1 HG01261.hp2 others(17): Show HG01106.hp2 HG01167.hp1 HG01261.hp2 HG02486.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02647.hp2 HG02809.hp2 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG02970.hp2 HG03098.hp2 HG03453.hp1 HG03486.hp2 HG03540.hp1 HG03579.hp1 NA20129.hp2 NA20300.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0001c0002 a0007c0013 a0001c0001 a0001c0002 a0007c0013	a0001c0001t0006 a0001c0002t0001 a0007c0013t0001 a0001c0001t0006 a0001c0002t0001 a0007c0013t0001	a0001c0001t0006g0045 a0001c0001t0006g0179 a0001c0001t0006g0185 others(10): Show a0001c0001t0006g0045 a0001c0001t0006g0179 a0001c0001t0006g0185 a0001c0002t0001g0008 a0001c0002t0001g0031 a0001c0002t0001g0036 a0001c0002t0001g0097 a0001c0002t0001g0129 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0139 a0007c0013t0001g0134	20	358	0.0559	-51	c.51 others(62): Show c.5106_*5156delTAGCCATGTGGTACTCACCCAGGGACCAGGCTGG GCTTTTTAGATTTGAAT	PARP1	ENSG00000143799.14	transcript	ENST00000366794.10	protein_coding		4387		chr1	TogoVar
PATJ_chr1_61737480_62168915	62123776	CAAATGTG others(44): Show CAAATGTGCTATAAGTTTCTTAACCAGTTTCCTATTATTGAACAATTAGC AT	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01109.hp1 others(38): Show HG00639.hp1 HG00735.hp2 HG01109.hp1 HG01192.hp1 HG01243.hp1 HG01433.hp2 HG01496.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp2 HG01978.hp1 HG02040.hp2 HG02109.hp2 HG02132.hp2 HG02155.hp1 HG02155.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02559.hp2 HG02615.hp1 HG02809.hp1 HG02895.hp2 HG02965.hp2 HG02976.hp2 HG03130.hp2 HG03471.hp1 HG03579.hp1 HG03669.hp1 HG03688.hp2 HG03704.hp1 HG03834.hp1 NA18983.hp1 NA18983.hp2 NA18993.hp2 NA18999.hp1 NA18999.hp2 NA19030.hp1 NA19056.hp2 NA19060.hp1	a0001 a0002 a0004 others(20): Show a0001 a0002 a0004 a0005 a0007 a0010 a0011 a0012 a0013 a0015 a0019 a0021 a0024 a0025 a0031 a0039 a0040 a0043 a0046 a0047 a0051 a0057 a0059	a0001c0092 a0002c0029 a0002c0061 others(33): Show a0001c0092 a0002c0029 a0002c0061 a0004c0011 a0004c0045 a0004c0056 a0004c0091 a0005c0006 a0005c0013 a0005c0031 a0005c0050 a0007c0123 a0010c0005 a0010c0023 a0010c0025 a0011c0125 a0012c0084 a0013c0004 a0013c0062 a0015c0039 a0015c0064 a0019c0115 a0021c0112 a0021c0118 a0024c0043 a0024c0076 a0025c0082 a0031c0130 a0039c0109 a0040c0035 a0043c0060 a0046c0053 a0047c0108 a0051c0066 a0057c0085 a0059c0087	a0001c0092t0006 a0002c0029t0001 a0002c0061t0006 others(35): Show a0001c0092t0006 a0002c0029t0001 a0002c0061t0006 a0004c0011t0001 a0004c0045t0002 a0004c0056t0002 a0004c0091t0001 a0005c0006t0001 a0005c0013t0001 a0005c0013t0015 a0005c0031t0015 a0005c0050t0026 a0007c0123t0001 a0010c0005t0001 a0010c0005t0018 a0010c0023t0007 a0010c0025t0001 a0011c0125t0001 a0012c0084t0002 a0013c0004t0001 a0013c0062t0001 a0015c0039t0002 a0015c0064t0001 a0019c0115t0001 a0021c0112t0024 a0021c0118t0003 a0024c0043t0030 a0024c0076t0001 a0025c0082t0001 a0031c0130t0001 a0039c0109t0001 a0040c0035t0022 a0043c0060t0001 a0046c0053t0002 a0047c0108t0001 a0051c0066t0001 a0057c0085t0007 a0059c0087t0007	a0001c0092t0006g0158 a0002c0029t0001g0138 a0002c0061t0006g0046 others(38): Show a0001c0092t0006g0158 a0002c0029t0001g0138 a0002c0061t0006g0046 a0004c0011t0001g0012 a0004c0011t0001g0152 a0004c0045t0002g0081 a0004c0056t0002g0125 a0004c0091t0001g0057 a0005c0006t0001g0044 a0005c0006t0001g0079 a0005c0013t0001g0103 a0005c0013t0015g0156 a0005c0031t0015g0119 a0005c0050t0026g0082 a0007c0123t0001g0017 a0010c0005t0001g0129 a0010c0005t0018g0107 a0010c0023t0007g0072 a0010c0025t0001g0140 a0011c0125t0001g0001 a0012c0084t0002g0035 a0013c0004t0001g0028 a0013c0004t0001g0115 a0013c0062t0001g0102 a0015c0039t0002g0109 a0015c0064t0001g0142 a0019c0115t0001g0007 a0021c0112t0024g0006 a0021c0118t0003g0021 a0024c0043t0030g0083 a0024c0076t0001g0048 a0025c0082t0001g0039 a0031c0130t0001g0056 a0039c0109t0001g0133 a0040c0035t0022g0117 a0043c0060t0001g0128 a0046c0053t0002g0058 a0047c0108t0001g0132 a0051c0066t0001g0131 a0057c0085t0007g0085 a0059c0087t0007g0075	41	158	0.2595	-51	c.504 others(68): Show c.5043+720_5043+770delAATGTGCTATAAGTTTCTTAACCAGTTT CCTATTATTGAACAATTAGCATA	PATJ	ENSG00000132849.22	transcript	ENST00000642238.2	protein_coding	39/43		INFO_REALIGN_3_PRIME	chr1	TogoVar
PAWR_chr12_79579879_79695964	79613949	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTT TT	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 NA19240.hp2 HG02922.hp2 NA19240.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0007 a0003c0005t0007	a0003c0005t0007g0164 a0003c0005t0007g0165 a0003c0005t0007g0164 a0003c0005t0007g0165	2	256	0.0078	-51	c.649 others(66): Show c.649-391_649-341delAAAAAAAAAAAAAAAAAAAAATATATATAT ATATATATATATATATATATA	PAWR	ENSG00000177425.11	transcript	ENST00000328827.9	protein_coding	3/6			chr12	TogoVar
PAX2_chr10_100740582_100834944	100807391	CTCCCTCA others(44): Show CTCCCTCACCCACAGCCCACGGTACTGTGCTCACACACCACCGCCCACCT GT	C C	intron_variant intron_variant	MODIFIER	HG02155.hp1 NA19068.hp1 HG02155.hp1 NA19068.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0067 a0001c0003t0003g0076 a0001c0003t0003g0067 a0001c0003t0003g0076	2	232	0.0086	-51	c.792 others(66): Show c.792+827_792+877delCGCCCACCTGTTCCCTCACCCACAGCCCAC GGTACTGTGCTCACACACCAC	PAX2	ENSG00000075891.24	transcript	ENST00000355243.8	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr10	TogoVar
PBX3_chr9_125742373_125972377	125780417	CCCCCCCC others(44): Show CCCCCCCCCCACCTCCCTCCCAGACGGGGCGGCTGGCCGGGCGGGGGGCT GA	C C	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02486.hp2 HG03225.hp1 others(1): Show HG01884.hp1 HG02486.hp2 HG03225.hp1 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0008 others(1): Show a0001c0001t0005g0006 a0001c0001t0005g0007 a0001c0001t0005g0008 a0001c0001t0005g0009	4	294	0.0136	-51	c.274 others(70): Show c.274+31803_274+31853delCACCTCCCTCCCAGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCC	PBX3	ENSG00000167081.18	transcript	ENST00000373489.10	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCBP3_chr21_45638725_45947450	45738867	AGCCCCCC others(44): Show AGCCCCCCTATCTTCATCAGCCCACCCCTTCCTGTCCACGATCCTCTGGG TG	A A	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0286 a0001c0001t0005g0286	1	292	0.0034	-51	c.-16 others(70): Show c.-162+3446_-162+3496delTATCTTCATCAGCCCACCCCTTCCTG TCCACGATCCTCTGGGTGGCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCBP3_chr21_45638725_45947450	45739593	CCCATCTT others(44): Show CCCATCTTCATCAGCCCACCCCTTCCTGTCCATTGTCCTCTGGGTGGCCC CT	C C	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	292	0.0034	-51	c.-16 others(70): Show c.-162+4167_-162+4217delATCTTCATCAGCCCACCCCTTCCTGT CCATTGTCCTCTGGGTGGCCCCTCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	3/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PCGF3_chr4_700832_775089	736620	CCCTGAGC others(44): Show CCCTGAGCACACAGGATGCAGGGAACCCGTGGTGTCCACAGGGACGGTGT CT	C C	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0061 a0001c0001t0061	a0001c0001t0061g0006 a0001c0001t0061g0006	1	366	0.0027	-51	c.207 others(66): Show c.207-838_207-788delACACAGGATGCAGGGAACCCGTGGTGTCCA CAGGGACGGTGTCTCCTGAGC	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCGF3_chr4_700832_775089	736850	GCGGTGTC others(44): Show GCGGTGTCCCCTGAGCGCACGGGACGCGGGGAACCTGGGGTGTCTGCAGG GA	G G	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00323.hp1 others(85): Show HG00099.hp1 HG00140.hp2 HG00323.hp1 HG00544.hp2 HG00642.hp2 HG00673.hp2 HG00738.hp1 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01361.hp1 HG01517.hp1 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02015.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02109.hp2 HG02129.hp1 HG02132.hp2 HG02257.hp1 HG02280.hp1 HG02293.hp1 HG02523.hp1 HG02559.hp2 HG02630.hp1 HG02735.hp2 HG02809.hp2 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03130.hp1 HG03490.hp2 HG03516.hp1 HG03540.hp2 HG03579.hp2 NA18942.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp2 NA18951.hp1 NA18954.hp1 NA18962.hp1 NA18963.hp1 NA18967.hp1 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18993.hp1 NA18994.hp1 NA18995.hp1 NA18995.hp2 NA18999.hp2 NA19003.hp1 NA19009.hp1 NA19011.hp1 NA19012.hp2 NA19056.hp2 NA19074.hp2 NA19079.hp2 NA19080.hp1 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19088.hp1 NA19090.hp1 NA19091.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0007 a0001c0001t0008 a0001c0001t0021 a0001c0001t0039 a0001c0001t0041 a0001c0003t0005 a0001c0003t0010 a0001c0004t0020 a0002c0002t0001 a0002c0002t0007 a0002c0002t0013 a0002c0002t0018 a0002c0002t0037 a0002c0002t0043	a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0198 others(83): Show a0001c0001t0001g0191 a0001c0001t0001g0195 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0249 a0001c0001t0001g0253 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0003g0194 a0001c0001t0003g0308 a0001c0001t0004g0119 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0007g0002 a0001c0001t0007g0120 a0001c0001t0007g0223 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0300 a0001c0001t0007g0304 a0001c0001t0007g0305 a0001c0001t0007g0306 a0001c0001t0007g0309 a0001c0001t0007g0313 a0001c0001t0007g0364 a0001c0001t0008g0252 a0001c0001t0021g0217 a0001c0001t0039g0239 a0001c0001t0041g0202 a0001c0003t0005g0001 a0001c0003t0005g0222 a0001c0003t0005g0307 a0001c0003t0005g0310 a0001c0003t0010g0311 a0001c0003t0010g0345 a0001c0003t0010g0346 a0001c0004t0020g0118 a0002c0002t0001g0192 a0002c0002t0001g0193 a0002c0002t0001g0196 a0002c0002t0001g0200 a0002c0002t0001g0208 a0002c0002t0001g0228 a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0231 a0002c0002t0001g0234 a0002c0002t0001g0235 a0002c0002t0001g0250 a0002c0002t0001g0294 a0002c0002t0001g0296 a0002c0002t0007g0301 a0002c0002t0007g0303 a0002c0002t0007g0312 a0002c0002t0013g0302 a0002c0002t0018g0227 a0002c0002t0037g0317 a0002c0002t0043g0268	88	366	0.2404	-51	c.207 others(66): Show c.207-335_207-285delCGGGGAACCTGGGGTGTCTGCAGGGACGGT GTCCCCTGAGCGCACGGGACG	PCGF3	ENSG00000185619.19	transcript	ENST00000362003.10	protein_coding	5/10		INFO_REALIGN_3_PRIME	chr4	TogoVar
PCSK1N_chrX_48826096_48840610	48837550	TCCCCACC others(44): Show TCCCCACCATGCCCAGCTAATTTTTGCATTTTTCTGTAGAGATGGGTTTC AC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	314	0.0032	-51	c.-20 others(62): Show c.-2069_-2019delGTGAAACCCATCTCTACAGAAAAATGCAAAAATT AGCTGGGCATGGTGGGG	PCSK1N	ENSG00000102109.9	transcript	ENST00000218230.6	protein_coding		1941		chrX	TogoVar
PCSK5_chr9_75885673_76367975	76064483	TGGGGCGG others(44): Show TGGGGCGGCTGGCCGGGCGGGGGGCTGAACCCCCCCAACCTCCCTCCCGG AC	T T	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0009 a0013c0032t0009	a0013c0032t0009g0127 a0013c0032t0009g0127	1	166	0.0060	-51	c.633 others(68): Show c.633-3467_633-3417delCGGCTGGCCGGGCGGGGGGCTGAACCCC CCCAACCTCCCTCCCGGACGGGG	PCSK5	ENSG00000099139.14	transcript	ENST00000674117.1	protein_coding	5/37		INFO_REALIGN_3_PRIME	chr9	TogoVar
PCSK6_chr15_101298933_101494707	101311886	CCCCTCAC others(44): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0267 a0001c0001t0001g0267	1	336	0.0030	-51	c.269 others(70): Show c.2699+1439_2699+1489delTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101311937	ACCCTCAC others(44): Show ACCCTCACAGCCCACCCCATCGTCACACCCTCACAGCCCACCCCATCGTC AC	A A	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0295 a0001c0001t0009g0295	1	336	0.0030	-51	c.269 others(70): Show c.2699+1388_2699+1438delGTGACGATGGGGTGGGCTGTGAGGGT GTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PCSK6_chr15_101298933_101494707	101312038	CCCCTCAC others(44): Show CCCCTCACAGCCCACCCCATCGTCACCCCTCACAGCCCACCCCATCGTCA CA	C C	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02257.hp2 HG02970.hp2 others(2): Show HG01891.hp1 HG02257.hp2 HG02970.hp2 HG03139.hp2 NA19240.hp2	a0001 a0002 a0006 others(1): Show a0001 a0002 a0006 a0013	a0001c0006 a0002c0008 a0006c0021 others(2): Show a0001c0006 a0002c0008 a0006c0021 a0006c0029 a0013c0043	a0001c0006t0002 a0002c0008t0002 a0006c0021t0002 others(2): Show a0001c0006t0002 a0002c0008t0002 a0006c0021t0002 a0006c0029t0001 a0013c0043t0009	a0001c0006t0002g0039 a0002c0008t0002g0027 a0006c0021t0002g0002 others(2): Show a0001c0006t0002g0039 a0002c0008t0002g0027 a0006c0021t0002g0002 a0006c0029t0001g0006 a0013c0043t0009g0036	5	336	0.0149	-51	c.269 others(70): Show c.2699+1287_2699+1337delTGTGACGATGGGGTGGGCTGTGAGGG GTGACGATGGGGTGGGCTGTGAGGG	PCSK6	ENSG00000140479.18	transcript	ENST00000611716.5	protein_coding	20/21			chr15	TogoVar
PDE10A_chr6_165322289_165668241	165339906	GTTACAGG others(44): Show GTTACAGGTAATAGTTACTAAAGATTCACTATGTTAGTTACTAAAGATTC AC	G G	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG02451.hp1 HG02886.hp2 others(4): Show HG01255.hp2 HG02451.hp1 HG02886.hp2 HG03453.hp1 HG03516.hp1 NA18906.hp2 NA19043.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0001c0002 a0001c0004 others(3): Show a0001c0001 a0001c0002 a0001c0004 a0001c0019 a0001c0020 a0005c0030	a0001c0001t0003 a0001c0002t0003 a0001c0004t0003 others(3): Show a0001c0001t0003 a0001c0002t0003 a0001c0004t0003 a0001c0019t0008 a0001c0020t0008 a0005c0030t0008	a0001c0001t0003g0176 a0001c0002t0003g0087 a0001c0002t0003g0123 others(4): Show a0001c0001t0003g0176 a0001c0002t0003g0087 a0001c0002t0003g0123 a0001c0004t0003g0082 a0001c0019t0008g0200 a0001c0020t0008g0146 a0005c0030t0008g0206	7	222	0.0315	-51	c.289 others(68): Show c.2896-599_2896-549delGTGAATCTTTAGTAACTAACATAGTGAA TCTTTAGTAACTATTACCTGTAA	PDE10A	ENSG00000112541.19	transcript	ENST00000539869.4	protein_coding	19/21			chr6	TogoVar
PDGFA_chr7_492258_524846	511332	GGGGTGGG others(44): Show GGGGTGGGGAGAGGGGAACCTAGTCCAGGTGGGGCCAGAGACTGGGGGTG GC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0279 a0001c0001t0022g0279	1	302	0.0033	-51	c.266 others(66): Show c.266-387_266-337delGCCACCCCCAGTCTCTGGCCCCACCTGGAC TAGGTTCCCCTCTCCCCACCC	PDGFA	ENSG00000197461.13	transcript	ENST00000402802.8	protein_coding	3/5			chr7	TogoVar
PDILT_chr16_20354175_20409737	20375762	CTTCAGAT others(44): Show CTTCAGATTCATAGAGAACAATGGCTCTGAAACCAGAAACTAAGACATCC TT	C C	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02647.hp1 HG02976.hp2 others(2): Show HG02572.hp1 HG02647.hp1 HG02976.hp2 HG03130.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0002 a0001c0001 a0002c0003 a0003c0002	a0001c0001t0001 a0002c0003t0001 a0003c0002t0001 a0001c0001t0001 a0002c0003t0001 a0003c0002t0001	a0001c0001t0001g0165 a0002c0003t0001g0322 a0003c0002t0001g0112 others(2): Show a0001c0001t0001g0165 a0002c0003t0001g0322 a0003c0002t0001g0112 a0003c0002t0001g0113 a0003c0002t0001g0115	5	406	0.0123	-51	c.543 others(66): Show c.543+255_543+305delAAGGATGTCTTAGTTTCTGGTTTCAGAGCC ATTGTTCTCTATGAATCTGAA	PDILT	ENSG00000169340.10	transcript	ENST00000302451.9	protein_coding	4/11			chr16	TogoVar
PDPN_chr1_13578832_13622957	13601966	CGGTGGCT others(44): Show CGGTGGCTCATGCCTTTGGGTGGCTCATGCCTTTGGGTGGCTCATGCCTT TG	C C	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01243.hp1 HG02257.hp2 others(5): Show HG00642.hp2 HG01243.hp1 HG02257.hp2 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 others(1): Show a0001c0001t0007 a0001c0001t0010 a0001c0001t0015 a0001c0002t0034	a0001c0001t0007g0072 a0001c0001t0007g0119 a0001c0001t0010g0152 others(4): Show a0001c0001t0007g0072 a0001c0001t0007g0119 a0001c0001t0010g0152 a0001c0001t0010g0306 a0001c0001t0015g0011 a0001c0001t0015g0151 a0001c0002t0034g0025	8	446	0.0179	-51	c.68- others(66): Show c.68-5163_68-5113delTGCCTTTGGGTGGCTCATGCCTTTGGGTGG CTCATGCCTTTGGGTGGCTCA	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDPN_chr1_13578832_13622957	13602012	CCTTTGGG others(44): Show CCTTTGGGTGGCTCATGCCTTTGGGTGGCTCATGCCTTTGGGTGGCTCAG CA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0148 a0001c0001t0003g0149	2	446	0.0045	-51	c.68- others(66): Show c.68-5146_68-5096delTGCCTTTGGGTGGCTCATGCCTTTGGGTGG CTCAGCACTTTGGGTGGCTCA	PDPN	ENSG00000162493.17	transcript	ENST00000621990.5	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PDXK_chr21_43714129_43767299	43743118	TCTGAGCA others(44): Show TCTGAGCACTATGGGGACACCTCGCCTGCACCCACCTCCCTCCCCCCAGC TC	T T	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02622.hp2 HG02717.hp2 others(2): Show HG01257.hp2 HG02622.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0082 a0001c0001t0015 a0001c0001t0082	a0001c0001t0015g0053 a0001c0001t0015g0054 a0001c0001t0015g0056 others(2): Show a0001c0001t0015g0053 a0001c0001t0015g0054 a0001c0001t0015g0056 a0001c0001t0015g0128 a0001c0001t0082g0055	5	358	0.0140	-51	c.248 others(66): Show c.248-576_248-526delCCCACCTCCCTCCCCCCAGCTCCTGAGCAC TATGGGGACACCTCGCCTGCA	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PDXK_chr21_43714129_43767299	43743257	CTCCCCCC others(44): Show CTCCCCCCAGCTCCCGAGCACTGTGGGGACACCTCGCCTGCACCCACCTC CT	C C	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00423.hp1 HG01069.hp2 others(8): Show HG00099.hp2 HG00423.hp1 HG01069.hp2 HG01109.hp1 HG02055.hp2 HG02886.hp1 HG02965.hp2 HG02970.hp1 HG03041.hp1 HG04204.hp1 NA19007.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0005 a0001c0001t0029 a0001c0001t0035 others(5): Show a0001c0001t0005 a0001c0001t0029 a0001c0001t0035 a0001c0001t0083 a0001c0001t0084 a0001c0002t0003 a0001c0003t0008 a0001c0003t0081	a0001c0001t0005g0038 a0001c0001t0029g0316 a0001c0001t0029g0328 others(8): Show a0001c0001t0005g0038 a0001c0001t0029g0316 a0001c0001t0029g0328 a0001c0001t0035g0281 a0001c0001t0083g0355 a0001c0001t0084g0356 a0001c0002t0003g0127 a0001c0003t0008g0229 a0001c0003t0008g0233 a0001c0003t0008g0235 a0001c0003t0081g0237	11	358	0.0307	-51	c.248 others(66): Show c.248-383_248-333delTCGCCTGCACCCACCTCCTTCCCCCCAGCT CCCGAGCACTGTGGGGACACC	PDXK	ENSG00000160209.19	transcript	ENST00000291565.9	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	977789	AACCCCGG others(44): Show AACCCCGGGAACTGCCTCCCACCCCCACCAACCCCGGGAACCGCCTCCCA AT	A A	intron_variant intron_variant	MODIFIER	NA19056.hp2 NA19056.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0015 a0004c0004t0015	a0004c0004t0015g0197 a0004c0004t0015g0197	1	408	0.0025	-51	c.214 others(70): Show c.2149+1041_2149+1091delATTGGGAGGCGGTTCCCGGGGTTGGT GGGGGTGGGAGGCAGTTCCCGGGGT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PEX5_chr12_7184686_7216459	7196972	ATAATTAT others(44): Show ATAATTATATATGTCACATATAATGTAATAATTATATATGTCACATATAA TG	A A	intron_variant intron_variant	MODIFIER	NA19057.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0156 a0001c0001t0001g0156	1	428	0.0023	-51	c.449 others(68): Show c.449-2010_449-1960delAATTATATATGTCACATATAATGTAATT ATATATGTCACATATAATGTAAT	PEX5	ENSG00000139197.11	transcript	ENST00000675855.1	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr12	TogoVar
PHF20_chr20_35767015_35955370	35850576	TTATGAGC others(44): Show TTATGAGCTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TC	T T	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00423.hp2 others(104): Show HG00099.hp2 HG00408.hp2 HG00423.hp2 HG00544.hp1 HG00597.hp2 HG00639.hp2 HG00642.hp2 HG01069.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG01884.hp1 HG01952.hp1 HG02004.hp1 HG02015.hp1 HG02040.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp2 HG02723.hp1 HG02738.hp1 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03225.hp2 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp1 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18522.hp1 NA18747.hp1 NA18943.hp1 NA18945.hp1 NA18947.hp1 NA18950.hp1 NA18952.hp2 NA18955.hp1 NA18961.hp2 NA18962.hp2 NA18966.hp1 NA18979.hp2 NA18984.hp1 NA18986.hp2 NA18990.hp1 NA19004.hp2 NA19011.hp2 NA19030.hp2 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19067.hp2 NA19077.hp1 NA19077.hp2 NA19082.hp2 NA19090.hp1 NA20300.hp2 NA20752.hp1 NA20805.hp1 NA21309.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0001c0004 a0001c0005 others(3): Show a0001c0001 a0001c0004 a0001c0005 a0001c0011 a0002c0002 a0005c0006	a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 others(13): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0010 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0004t0011 a0001c0004t0022 a0001c0005t0002 a0001c0011t0018 a0002c0002t0002 a0002c0002t0003 a0002c0002t0008 a0002c0002t0016 a0002c0002t0017 a0005c0006t0002	a0001c0001t0002g0092 a0001c0001t0002g0150 a0001c0001t0002g0151 others(104): Show a0001c0001t0002g0092 a0001c0001t0002g0150 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0154 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0160 a0001c0001t0002g0161 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0167 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0186 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0191 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0202 a0001c0001t0004g0091 a0001c0001t0004g0098 a0001c0001t0004g0099 a0001c0001t0004g0100 a0001c0001t0004g0102 a0001c0001t0004g0104 a0001c0001t0004g0105 a0001c0001t0004g0106 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0110 a0001c0001t0004g0111 a0001c0001t0004g0125 a0001c0001t0010g0101 a0001c0001t0010g0103 a0001c0001t0019g0109 a0001c0001t0020g0153 a0001c0001t0021g0201 a0001c0004t0011g0203 a0001c0004t0011g0204 a0001c0004t0022g0183 a0001c0005t0002g0149 a0001c0005t0002g0155 a0001c0011t0018g0017 a0002c0002t0002g0096 a0002c0002t0003g0097 a0002c0002t0003g0114 a0002c0002t0003g0115 a0002c0002t0003g0116 a0002c0002t0003g0118 a0002c0002t0003g0119 a0002c0002t0003g0122 a0002c0002t0003g0124 a0002c0002t0003g0126 a0002c0002t0003g0128 a0002c0002t0003g0129 a0002c0002t0003g0130 a0002c0002t0003g0131 a0002c0002t0003g0132 a0002c0002t0003g0133 a0002c0002t0003g0134 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0137 a0002c0002t0003g0138 a0002c0002t0003g0139 a0002c0002t0003g0141 a0002c0002t0003g0142 a0002c0002t0003g0143 a0002c0002t0003g0144 a0002c0002t0003g0145 a0002c0002t0003g0146 a0002c0002t0003g0148 a0002c0002t0003g0205 a0002c0002t0008g0113 a0002c0002t0008g0121 a0002c0002t0008g0123 a0002c0002t0008g0140 a0002c0002t0008g0147 a0002c0002t0016g0120 a0002c0002t0017g0127 a0005c0006t0002g0117	107	206	0.5194	-51	c.340 others(68): Show c.340+3158_340+3208delTTTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCTATGAGCTGTTTTTT	PHF20	ENSG00000025293.17	transcript	ENST00000374012.8	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr20	TogoVar
PHF21B_chr22_44876162_45015005	44884119	CCATCATG others(44): Show CCATCATGATCACCATTATCACCACCACCACCATCACTGTGATCAGCACC AT	C C	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0014 a0001c0002t0014	a0001c0002t0014g0278 a0001c0002t0014g0278	1	300	0.0033	-51	c.137 others(68): Show c.1378-866_1378-816delATGGTGCTGATCACAGTGATGGTGGTGG TGGTGATAATGGTGATCATGATG	PHF21B	ENSG00000056487.17	transcript	ENST00000313237.10	protein_coding	12/12			chr22	TogoVar
PHKA1_chrX_72573814_72719306	72681431	TCCGGGAG others(44): Show TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCCGCCCGGCCAGCCGTGCCA TC	T T	intron_variant intron_variant	MODIFIER	NA19078.hp1 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	237	0.0042	-51	c.537 others(68): Show c.537+3016_537+3066delGATGGCACGGCTGGCCGGGCGGGGGGGC TGACCCCCCCACCTCCCTCCCGG	PHKA1	ENSG00000067177.15	transcript	ENST00000373542.9	protein_coding	5/31			chrX	TogoVar
PHKG2_chr16_30743425_30766176	30749040	GTGGTGGT others(44): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GC	G G	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA19057.hp2 HG00140.hp2 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0007 a0001c0001t0002 a0001c0001t0007	a0001c0001t0002g0043 a0001c0001t0007g0068 a0001c0001t0002g0043 a0001c0001t0007g0068	2	264	0.0076	-51	c.95+ others(64): Show c.95+128_95+178delGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGGTGCTG	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHKG2_chr16_30743425_30766176	30749043	GTGGTGGT others(44): Show GTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGCT GC	G G	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0072 a0001c0001t0008g0072	1	264	0.0038	-51	c.95+ others(64): Show c.95+131_95+181delGTGGTGGTGGTGGTGGTGGTGGTGGTGGTGGT GGTGGTGGTGGTGCTGCTG	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PHKG2_chr16_30743425_30766176	30749073	GTGGTGGT others(44): Show GTGGTGGTGGTGGTGGTGCTGCTGCTGCTGCTGCTGCTGGTGGTGCTGGT GC	G G	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0054 a0001c0001t0006g0054	1	264	0.0038	-51	c.95+ others(64): Show c.95+173_95+223delGTGCTGCTGCTGCTGCTGCTGCTGGTGGTGCT GGTGCTGGTGGTGGTGGTG	PHKG2	ENSG00000156873.16	transcript	ENST00000563588.6	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr16	TogoVar
PIAS4_chr19_4002736_4044386	4011641	TGGTGTGG others(44): Show TGGTGTGGAGGTGTGTTTGGTGTGGAGGTGTGGGGGGTGTGGAGGTGTGT GG	T T	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0157 a0001c0002t0004g0157	1	334	0.0030	-51	c.28- others(66): Show c.28-1266_28-1216delTTGGTGTGGAGGTGTGGGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011658	TGGTGTGG others(44): Show TGGTGTGGAGGTGTGGGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGT GG	T T	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01070.hp1 HG01071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0053 a0001c0001t0001g0054	2	334	0.0060	-51	c.28- others(66): Show c.28-1250_28-1200delGGGGGTGTGGAGGTGTGTGGGGTGTGGAGG TGTGTGGGGTGTGGAGGTGTG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011673	GGGGGTGT others(44): Show GGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGTGTGGGGTGTGGAGGTGT GT	G G	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01081.hp1 HG02071.hp1 others(2): Show HG00438.hp2 HG01081.hp1 HG02071.hp1 HG02080.hp2 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0014 a0001c0002t0018 a0001c0001t0001 a0001c0001t0014 a0001c0002t0018	a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0205 others(2): Show a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0205 a0001c0001t0014g0135 a0001c0002t0018g0138	5	334	0.0150	-51	c.28- others(66): Show c.28-1113_28-1063delGGGGTGTGGAGGTGTGTGGGGTGTGGAGGT GTGTGGGGTGTGGAGGTGTGT	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PIAS4_chr19_4002736_4044386	4011841	TGTGGGGT others(44): Show TGTGGGGTGTGGAGGTGTGTTTGGTGTGGAGCTGTGGGGTGTGGAGGTGT GG	T T	intron_variant intron_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	334	0.0030	-51	c.28- others(66): Show c.28-1080_28-1030delTGGGGTGTGGAGGTGTGTTTGGTGTGGAGC TGTGGGGTGTGGAGGTGTGGG	PIAS4	ENSG00000105229.7	transcript	ENST00000262971.3	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr19	TogoVar
PID1_chr2_229018973_229276287	229184737	GTATATAT others(44): Show GTATATATATATCCCGTATATATATATATCCCGTATATATATATCCCGTA TA	G G	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0241 a0001c0001t0002g0241	1	256	0.0039	-51	c.31- others(68): Show c.31-28824_31-28774delTATACGGGATATATATATACGGGATATA TATATATACGGGATATATATATA	PID1	ENSG00000153823.19	transcript	ENST00000392055.8	protein_coding	1/2			chr2	TogoVar
PIGU_chr20_34555542_34682092	34631741	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATATATTTTT TT	A A	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0264 a0001c0001t0001g0264	1	320	0.0031	-51	c.529 others(68): Show c.529+2823_529+2873delAAAAAAATATATATATATATATATATAT ATATATATATATATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PIGU_chr20_34555542_34682092	34631745	ATATATAT others(44): Show ATATATATATATATATATATATATATATATATATATATATATTTTTTTTT TT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0281 a0001c0001t0001g0281	1	320	0.0031	-51	c.529 others(68): Show c.529+2819_529+2869delAAAAAAAAAAATATATATATATATATAT ATATATATATATATATATATATA	PIGU	ENSG00000101464.11	transcript	ENST00000217446.8	protein_coding	6/11			chr20	TogoVar
PKD2L1_chr10_100283149_100335228	100314993	AGGAAGGA others(44): Show AGGAAGGAAGGAAGGAAGGAAGGGAAGGGAAGGGAAGGGAAGGGAAGGGA AG	A A	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0011 a0001c0002t0001g0011	1	306	0.0033	-51	c.349 others(70): Show c.349+14167_349+14217delCTTCCCTTCCCTTCCCTTCCCTTCCC TTCCCTTCCTTCCTTCCTTCCTTCC	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PLCXD1_chrX_276381_308356	306875	AGTCAGAA others(44): Show AGTCAGAAATGTACATTTTGACTGTCAGCACAGATTAGGCACCTGTTGTA TG	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00408.hp2 HG00423.hp2 others(108): Show HG00280.hp1 HG00408.hp2 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00639.hp2 HG00733.hp1 HG00735.hp2 HG00738.hp1 HG01070.hp2 HG01109.hp1 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp2 HG01975.hp1 HG01975.hp2 HG01993.hp1 HG01993.hp2 HG02056.hp1 HG02080.hp1 HG02080.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp2 HG02257.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp1 HG02683.hp2 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03195.hp2 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03669.hp1 HG03669.hp2 HG04184.hp2 HG04204.hp1 NA18906.hp1 NA18906.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp1 NA18954.hp1 NA18956.hp1 NA18960.hp1 NA18969.hp1 NA18975.hp2 NA18980.hp1 NA18980.hp2 NA18985.hp1 NA18986.hp1 NA18988.hp1 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18998.hp1 NA18998.hp2 NA18999.hp1 NA19003.hp1 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19055.hp1 NA19057.hp2 NA19060.hp1 NA19062.hp1 NA19070.hp1 NA19074.hp1 NA19080.hp1 NA19080.hp2 NA19081.hp2 NA19086.hp1 NA19090.hp1 NA19090.hp2	a0000 a0001 a0003 others(6): Show a0000 a0001 a0003 a0004 a0005 a0008 a0009 a0010 a0011	a0000c0018 a0001c0001 a0001c0002 others(11): Show a0000c0018 a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0010 a0003c0007 a0004c0017 a0005c0015 a0008c0011 a0009c0013 a0010c0008 a0011c0016	a0000c0018t0101 a0001c0001t0001 a0001c0001t0002 others(83): Show a0000c0018t0101 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0024 a0001c0001t0025 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0041 a0001c0001t0045 a0001c0001t0048 a0001c0001t0050 a0001c0001t0057 a0001c0001t0059 a0001c0001t0061 a0001c0001t0066 a0001c0001t0068 a0001c0001t0071 a0001c0001t0074 a0001c0001t0079 a0001c0001t0080 a0001c0001t0086 a0001c0001t0087 a0001c0001t0092 a0001c0001t0095 a0001c0001t0099 a0001c0001t0103 a0001c0001t0113 a0001c0002t0002 a0001c0002t0004 a0001c0002t0008 a0001c0002t0010 a0001c0002t0019 a0001c0002t0038 a0001c0002t0046 a0001c0002t0049 a0001c0002t0076 a0001c0002t0091 a0001c0002t0093 a0001c0002t0097 a0001c0002t0098 a0001c0002t0100 a0001c0002t0105 a0001c0002t0110 a0001c0003t0002 a0001c0003t0006 a0001c0003t0020 a0001c0003t0023 a0001c0003t0035 a0001c0003t0036 a0001c0003t0051 a0001c0003t0053 a0001c0003t0054 a0001c0003t0055 a0001c0003t0056 a0001c0003t0060 a0001c0003t0081 a0001c0003t0082 a0001c0003t0089 a0001c0003t0104 a0001c0003t0107 a0001c0004t0007 a0001c0006t0075 a0001c0010t0042 a0003c0007t0019 a0003c0007t0021 a0004c0017t0040 a0005c0015t0109 a0008c0011t0108 a0009c0013t0021 a0010c0008t0077 a0011c0016t0006	a0000c0018t0101g0132 a0001c0001t0001g0005 a0001c0001t0001g0086 others(106): Show a0000c0018t0101g0132 a0001c0001t0001g0005 a0001c0001t0001g0086 a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0004g0028 a0001c0001t0004g0045 a0001c0001t0005g0038 a0001c0001t0007g0121 a0001c0001t0007g0124 a0001c0001t0009g0065 a0001c0001t0010g0087 a0001c0001t0010g0122 a0001c0001t0011g0125 a0001c0001t0012g0015 a0001c0001t0012g0149 a0001c0001t0017g0007 a0001c0001t0018g0100 a0001c0001t0024g0101 a0001c0001t0025g0079 a0001c0001t0026g0064 a0001c0001t0027g0059 a0001c0001t0028g0070 a0001c0001t0029g0019 a0001c0001t0030g0062 a0001c0001t0032g0058 a0001c0001t0033g0078 a0001c0001t0037g0063 a0001c0001t0041g0164 a0001c0001t0045g0031 a0001c0001t0048g0030 a0001c0001t0050g0043 a0001c0001t0057g0055 a0001c0001t0059g0123 a0001c0001t0061g0033 a0001c0001t0066g0161 a0001c0001t0068g0034 a0001c0001t0071g0052 a0001c0001t0074g0143 a0001c0001t0079g0001 a0001c0001t0080g0088 a0001c0001t0086g0061 a0001c0001t0087g0060 a0001c0001t0092g0089 a0001c0001t0095g0097 a0001c0001t0099g0120 a0001c0001t0103g0037 a0001c0001t0113g0166 a0001c0002t0002g0108 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0139 a0001c0002t0002g0142 a0001c0002t0004g0109 a0001c0002t0004g0133 a0001c0002t0004g0146 a0001c0002t0008g0116 a0001c0002t0008g0117 a0001c0002t0008g0131 a0001c0002t0008g0157 a0001c0002t0010g0008 a0001c0002t0019g0130 a0001c0002t0038g0153 a0001c0002t0046g0145 a0001c0002t0049g0023 a0001c0002t0076g0107 a0001c0002t0091g0155 a0001c0002t0093g0137 a0001c0002t0097g0141 a0001c0002t0098g0136 a0001c0002t0100g0008 a0001c0002t0105g0128 a0001c0002t0110g0129 a0001c0003t0002g0018 a0001c0003t0002g0040 a0001c0003t0002g0044 a0001c0003t0002g0159 a0001c0003t0006g0041 a0001c0003t0006g0042 a0001c0003t0006g0114 a0001c0003t0020g0036 a0001c0003t0020g0056 a0001c0003t0023g0020 a0001c0003t0023g0021 a0001c0003t0035g0006 a0001c0003t0036g0006 a0001c0003t0051g0071 a0001c0003t0053g0162 a0001c0003t0054g0094 a0001c0003t0055g0010 a0001c0003t0056g0092 a0001c0003t0060g0051 a0001c0003t0081g0057 a0001c0003t0082g0160 a0001c0003t0089g0011 a0001c0003t0104g0093 a0001c0003t0107g0104 a0001c0004t0007g0106 a0001c0004t0007g0110 a0001c0006t0075g0112 a0001c0010t0042g0163 a0003c0007t0019g0009 a0003c0007t0021g0009 a0004c0017t0040g0165 a0005c0015t0109g0113 a0008c0011t0108g0022 a0009c0013t0021g0150 a0010c0008t0077g0072 a0011c0016t0006g0076	111	176	0.6307	-51	c.75 others(62): Show c.7541_*7591delGTCAGAAATGTACATTTTGACTGTCAGCACAGAT TAGGCACCTGTTGTATG	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding		3520		chrX	TogoVar