Joint Open Genome and Omics Platform (JoGo)

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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
NUP93_chr16_56725129_56855286	56808331	T T	TATATAGT others(187): Show TATATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0321 a0001c0001t0001g0321	1	369	0.0027	194	c.489 others(211): Show c.489+2709_489+2710insATAACTATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTA TATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808356	T T	TATATAGT others(187): Show TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG02647.hp1 NA20300.hp1 HG01433.hp1 HG02647.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0118 a0001c0001t0001g0126 a0001c0001t0001g0047 a0001c0001t0001g0118 a0001c0001t0001g0126	3	359	0.0084	194	c.489 others(211): Show c.489+2734_489+2735insATAACTATATAAAATATATAGTTATATA ACTATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTA TATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808356	T T	TATATAGT others(187): Show TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATATTTTATATAGTTATATAACTATATAAAATA TAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0121 a0001c0001t0001g0121	1	357	0.0028	194	c.489 others(211): Show c.489+2734_489+2735insATAACTATATAAAATATATAGTTATATA ACTATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATATTTTATATAGTTATATAAC TATATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTA TATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808381	T T	TATATAGT others(187): Show TATATAGTTATATAACTATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	342	0.0029	194	c.489 others(211): Show c.489+2759_489+2760insATAACTATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTA TATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808381	T T	TATATAGT others(187): Show TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAA	intron_variant intron_variant	MODIFIER	NA19000.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0171	1	342	0.0029	194	c.489 others(211): Show c.489+2759_489+2760insATAACTATATAAAATATATAGTTATATA ACTATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAAC TATATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTA TATAAAATATAGTTAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56808423	A A	ATAAAATA others(187): Show ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATATAGTTATATAACTATATAAAATATATAGTTATATAACTAT ATAAAATATAGTTATATAACTATATAAAATATATAGTTATATAACTATAT AAAATATATAGTTATATAACTATATAAAATATATAGTTATGTAAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	369	0.0027	194	c.489 others(211): Show c.489+2793_489+2794insAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAA TATATAGTTATATAACTATATAAAATATAGTTATATAACTATATAAAATA TATAGTTATATAACTATATAAAATATATAGTTATATAACTATATAAAATA TATAGTTATGTAACTA	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NWD1_chr19_16714847_16822953	16737964	C C	CAAAAGAA others(187): Show CAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA GAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0020 a0002c0002t0020	a0002c0002t0020g0249 a0002c0002t0020g0249	1	120	0.0083	194	c.198 others(211): Show c.198+1214_198+1215insAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAAAGAAA AGAAAAGAAAAGAAAA	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	4/18			chr19	TogoVar
NXN_chr17_794310_984776	841443	T T	TCCCCCCT others(187): Show TCCCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACC ACGGTGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGGCGCATCT CACACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCACACGGGCGAG CAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTC	intron_variant intron_variant	MODIFIER	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0242 a0001c0001t0032g0242	1	165	0.0061	194	c.361 others(213): Show c.361-15366_361-15365insGACCTGCTCGCCCGTGTGAGATGCTC CGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGA GGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCG CCCGTGTGAGATGCACCGTGGTCGGGAGGACCTGCTCGCGGGTGTGAGAT GCGCCGTGGTCAGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841445	C C	CCCCCTGA others(187): Show CCCCCTGACCACGGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCAT GGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCA CACCCGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGC AGGTCCCCCCGACCACAGCGCATCTCATGCCGGCGAGCAGGTCCA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0230 a0001c0001t0001g0230	1	160	0.0063	194	c.361 others(213): Show c.361-15368_361-15367insTGGACCTGCTCGCCGGCATGAGATGC GCTGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGG GGGGACCTGCTCGCGGGTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCT CGCCGGCGTGAGATGCTCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAG ATGCGCCGTGGTCAGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841591	A A	AGCAGGTC others(187): Show AGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCCC CCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCACCCTGACCACGG AGCATCTCACGCCGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACA CGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCACGG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01358.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0155 a0001c0001t0006g0155	1	205	0.0049	194	c.361 others(213): Show c.361-15514_361-15513insCCGTGGGTGTGAGATGCGCCGTGGTC GGGGGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTG CTCGCCGGCGTGAGATGCTCCGTGGTCAGGGTGGACCTGCTCGCCCGTGT GAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCCGTGTGAGATGCTCCG TGGTCAGGGGGGACCTGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	952449	C C	CAGACCAA others(187): Show CAGACCAAGGTTGGAACCCGGCAGGTACCACGGACGGTCACACTGTGGGG GGGGCTGGGGTCAGAGAGACCAAGGTTGGAACCCGGCAGGTACCACGGAC GGTCACACTGTGGGGGGGGCTGGAGTCAGAGAGACCAAGGTTGGAACCCG GCAGGTACCACGGACGGTCACACTGTGGGGGGGCTGGGGTCAGAG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	175	0.0057	194	c.360 others(213): Show c.360+26869_360+26870insCTCTGACCCCAGCCCCCCCACAGTGT GACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGGTCTCTCTGACTCCAG CCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCCGGGTTCCAACCTTGG TCTCTCTGACCCCAGCCCCCCCCACAGTGTGACCGTCCGTGGTACCTGCC GGGTTCCAACCTTGGTCT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
ODAD2_chr10_27807168_28004079	27924241	T T	TAAAAAAA others(187): Show TAAAAAAAATTTTATACAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTG TAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGG AGGCGGAGCTTGCAGTGAGCCGAGATGGCGCCACTGCACTCCAGCCTGGG CGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0002 a0007c0012t0002	a0007c0012t0002g0189 a0007c0012t0002g0189	1	302	0.0033	194	c.249 others(215): Show c.2495+10768_2495+10769insTTTTTTTTTTTTTTTTTTTTTTTG AGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCCATCTC GGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATT TTTTGTATAAAATTTTTTTT	ODAD2	ENSG00000169126.16	transcript	ENST00000305242.10	protein_coding	16/19			chr10	TogoVar
ODAD3_chr19_11415605_11440121	11425044	T T	TGTATATA others(187): Show TGTATATATACCTATGTGTATATATACATATGTGTATATATACCTATGTG TATATATACATATGTGTATATATACCTATGTGTATATATACATATGTGTA TATATACCTATGTGTATATGTATATATGTGTATATATACCTATGCGTATA TATGTATATATGCGTATATATACATATGCGTATATATACATATGC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01168.hp2 HG01169.hp2 HG01074.hp2 HG01168.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0006	3	374	0.0080	194	c.964 others(211): Show c.964-1016_964-1015insGCATATGTATATATACGCATATGTATAT ATACGCATATATACATATATACGCATAGGTATATATACACATATATACAT ATACACATAGGTATATATACACATATGTATATATACACATAGGTATATAT ACACATATGTATATATACACATAGGTATATATACACATATGTATATATAC ACATAGGTATATATAC	ODAD3	ENSG00000198003.12	transcript	ENST00000356392.9	protein_coding	7/12			chr19	TogoVar
ODF3_chr11_191761_205258	196111	A A	ACATAGGG others(187): Show ACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGACATGGTGAGGGG AGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGAGGGGACCTGGTG AGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATGGGGGGGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp1 HG00738.hp2 HG01074.hp1 others(9): Show HG00323.hp1 HG00738.hp2 HG01074.hp1 HG01099.hp2 HG01167.hp2 HG01169.hp1 HG01261.hp1 HG01361.hp2 HG03139.hp2 NA18969.hp2 NA18990.hp2 NA19005.hp1	a0002 a0005 a0002 a0005	a0002c0003 a0005c0007 a0002c0003 a0005c0007	a0002c0003t0001 a0005c0007t0001 a0002c0003t0001 a0005c0007t0001	a0002c0003t0001g0008 a0005c0007t0001g0008 a0002c0003t0001g0008 a0005c0007t0001g0008	12	386	0.0311	194	c.-94 others(203): Show c.-944_-943insCATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGG ACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTG AGGGGACCTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGT GAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGAGGACATG GGGGGGAC	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		649		chr11	TogoVar
ODF3_chr11_191761_205258	196113	C C	CTGGTGAG others(187): Show CTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGACCTGGTGAGGGGA CCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGACCTGGTGAGGGGA CATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGGGGAGCCTTGGTGA GGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGGGGGGACCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG00597.hp2 HG00639.hp1 others(59): Show HG00423.hp1 HG00597.hp2 HG00639.hp1 HG00673.hp1 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01070.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01106.hp2 HG01123.hp1 HG01167.hp1 HG01192.hp1 HG01255.hp1 HG01258.hp1 HG01358.hp1 HG01496.hp1 HG01516.hp1 HG01517.hp1 HG02074.hp1 HG02257.hp1 HG02451.hp1 HG02572.hp1 HG02602.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp1 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG03710.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp2 NA18939.hp1 NA18944.hp1 NA18947.hp1 NA18952.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18975.hp1 NA18975.hp2 NA18981.hp1 NA19000.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp1 NA19057.hp2 NA19066.hp1 NA19077.hp1 NA19089.hp2 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20805.hp2 NA21309.hp1 NA21309.hp2	a0001 a0004 a0006 a0001 a0004 a0006	a0001c0001 a0004c0006 a0006c0010 a0001c0001 a0004c0006 a0006c0010	a0001c0001t0001 a0001c0001t0007 a0004c0006t0001 others(1): Show a0001c0001t0001 a0001c0001t0007 a0004c0006t0001 a0006c0010t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0007g0001 a0004c0006t0001g0009 a0006c0010t0001g0001	62	285	0.2175	194	c.-94 others(203): Show c.-942_-941insTGGTGAGGGGACATGGGGGGGACCTTGGTGAGGGGA CCTGGTGAGGGGACCTGGTGAGGGGACATAGGGGGGCCTTGGTGAGGGGA CCTGGTGAGGGGACATGGTGAGGGGAGCATGGTGAGGGGAACATGGGTGG GGAGCCTTGGTGAGGGGACCTGGTGAGGGGACCTGGTGAGGGGACATGGG GGGGACCT	ODF3	ENSG00000177947.15	transcript	ENST00000325113.9	protein_coding		647		chr11	TogoVar
OPRM1_chr6_154034240_154137356	154100188	C C	CATATATC others(187): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATATTATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03209.hp1 HG02451.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0081 a0001c0001t0001 a0001c0001t0081	a0001c0001t0001g0048 a0001c0001t0081g0047 a0001c0001t0001g0048 a0001c0001t0081g0047	2	231	0.0087	194	c.116 others(213): Show c.1164+8720_1164+8721insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATATTA TCATATTATGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OPRM1_chr6_154034240_154137356	154100218	C C	CATATATC others(187): Show CATATATCATAATATATATTATCATATTATGACATATATCATAATATATA TTATCATATTATGACATATATCATAATATATATTATCATATTATGACATA TATCATAATATATATTATCATATTATGACATATATCATAATATATATTAT CATATTATGACATATATCATAATATATATTATCATATTATGACAT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02055.hp2 HG02559.hp2 others(4): Show HG01496.hp2 HG02055.hp2 HG02559.hp2 HG02615.hp1 HG02818.hp1 HG02976.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 others(4): Show a0001c0001t0086 a0001c0001t0087 a0001c0001t0088 a0001c0001t0090 a0003c0004t0107 a0003c0004t0108 a0003c0004t0109	a0001c0001t0086g0139 a0001c0001t0087g0149 a0001c0001t0088g0148 others(4): Show a0001c0001t0086g0139 a0001c0001t0087g0149 a0001c0001t0088g0148 a0001c0001t0090g0141 a0003c0004t0107g0021 a0003c0004t0108g0020 a0003c0004t0109g0019	7	64	0.1094	194	c.116 others(213): Show c.1164+8750_1164+8751insATCATAATATATATTATCATATTATG ACATATATCATAATATATATTATCATATTATGACATATATCATAATATAT ATTATCATATTATGACATATATCATAATATATATTATCATATTATGACAT ATATCATAATATATATTATCATATTATGACATATATCATAATATATATTA TCATATTATGACATATAT	OPRM1	ENSG00000112038.18	transcript	ENST00000330432.12	protein_coding	3/3		INFO_REALIGN_3_PRIME	chr6	TogoVar
OR4K1_chr14_19925917_19941757	19937355	T T	TATAATAT others(187): Show TATAATATATATATTATATATTATATATATATTATATATAATATATATTA TATATAATATATATATAATATATAATATATATATATAATATATATAATAT ATATATTATATATATAATATATATAATATATATATTATATATATAATATA TATAATATATATATTATATATATAATATATATTATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02083.hp2 HG02083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	30	0.0333	194	c.75 others(203): Show c.753_*754insATAATATATATATTATATATTATATATATATTATAT ATAATATATATTATATATAATATATATATAATATATAATATATATATATA ATATATATAATATATATATTATATATATAATATATATAATATATATATTA TATATATAATATATATAATATATATATTATATATATAATATATATTATAT ATATATAC	OR4K1	ENSG00000155249.5	transcript	ENST00000641172.1	protein_coding		599		chr14	TogoVar
PARP10_chr8_143972158_143991460	143981315	G G	GTGATGGT others(187): Show GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGA CGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAG TGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGT GGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0235 a0002c0002t0002g0235	1	330	0.0030	194	c.255 others(213): Show c.2556+1616_2556+1617insTCACCATCACCTTCACCACTCACTGT CGTCACCACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATC ATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCA CCTTCACCACTCACTGTCGTCACCACCATCACCACCACCTTCACCACTCA CTGTCGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981349	A A	ATGGTGAT others(187): Show ATGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGG TGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGAC AGTGAGTGGTGAAGGTGATGGTGATGGTGGTGACGACAGTGAGTGGTGAA GGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGG	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0007 a0002c0002t0007	a0002c0002t0007g0244 a0002c0002t0007g0244	1	269	0.0037	194	c.255 others(213): Show c.2556+1582_2556+1583insCCACCTTCACCACTCACTGTCGTCAC CACCATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCACC ATCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCA CCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTG TCGTCACCACCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981592	A A	ATGATGGT others(187): Show ATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGATGGTGG TGACGACAGTGAGTGGTGAAGGTGATGGTGATGGTGGTGACGACAGTGAG TGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGT GGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02056.hp1 NA18954.hp1 others(1): Show HG00597.hp1 HG02056.hp1 NA18954.hp1 NA18971.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0035 a0002c0002t0002g0226 a0002c0002t0002g0227 a0002c0002t0002g0035 a0002c0002t0002g0226 a0002c0002t0002g0227	4	367	0.0109	194	c.255 others(213): Show c.2556+1339_2556+1340insCCACCACCTTCACCACTCACTGTCGT CACCACCATCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATC ATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCACCATCACCT TCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCACTCA CTGTCGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PARP10_chr8_143972158_143991460	143981706	G G	GTGGTGAT others(187): Show GTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGG TGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGAC AGTGAGTGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGT GAAGGTGGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02027.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0210 a0002c0002t0002g0210	1	340	0.0029	194	c.255 others(213): Show c.2556+1225_2556+1226insTCACCTTCACCACTCACTGTCGTCAC CACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACC ACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCA CCACTCACTGTCGTCACCACCATCACCATCACCTTCACCACTCACTGTCG TCACCACCATCATCACCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PASD1_chrX_151558675_151681739	151562857	C C	CCGGGCGG others(187): Show CCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGGCGGGGGGGGGGCGGG GGGGGCGGGGGGCGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGCGGGGGG CGGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGCGGGGGGG GCGGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0154 a0001c0002t0004g0154	1	192	0.0052	194	c.-10 others(205): Show c.-1010_-1009insCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGG CGGGGGGGGGGCGGGGGGGGCGGGGGGCGGGGGGCGGGGGGCGGGGGGGG CGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGG CGGGGGGCGGGGGGGGCGGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGG GCGGGGGGCG	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		817		chrX	TogoVar
PASD1_chrX_151558675_151681739	151562909	G G	GGGGGGGC others(187): Show GGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGG CGGGGGGCGGGGGGGGGCGGGGGGGGCGGGGGGGCGGGGGGCGGCGGGGG GCGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGGG GCGGGGGGCGGGGGGCGGGGGGGGCGGGGGCGGGGGGCGGGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0191 a0001c0001t0010g0191	1	81	0.0123	194	c.-95 others(203): Show c.-958_-957insGGGGGGCGGGGGGTCGGTGGTCCGGGCGGGGGCGGG GGGGCAGCTGGGGCGGGGGGCGGGGGGGGGCGGGGGGGGCGGGGGGGCGG GGGGCGGCGGGGGGCGGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGCGGG GGGGGCGGGGGGGGCGGGGGGCGGGGGGCGGGGGGGGCGGGGGCGGGGGG CGGGGGGC	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		765		chrX	TogoVar
PASD1_chrX_151558675_151681739	151562916	C C	CGGGGGGT others(187): Show CGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAGCTGGGGCGGGGGG CGGCGGGGGGCGGGGGGGCGGGGGGCGGCGGGGGGCGGGGGGGCGGGGGG GGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGCGGGGGGGGCGGGGGGG GCGGGGGCGGGGGGCGGGGGGGGCGGGGGCGGGGGGCGGGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0002 a0004c0010t0002	a0004c0010t0002g0203 a0004c0010t0002g0203	1	137	0.0073	194	c.-95 others(203): Show c.-951_-950insGGGGGGTCGGTGGTCCGGGCGGGGGCGGGGGGGCAG CTGGGGCGGGGGGCGGCGGGGGGCGGGGGGGCGGGGGGCGGCGGGGGGCG GGGGGGCGGGGGGGGCGGGGGGCGGGGGGGGCGGGGGGGGCGGGGGCGGG GGGGGCGGGGGGGGCGGGGGCGGGGGGCGGGGGGGGCGGGGGCGGGGGGC GGGGGGCG	PASD1	ENSG00000166049.11	transcript	ENST00000370357.5	protein_coding		758		chrX	TogoVar
PATL1_chr11_59631716_59674037	59632736	T T	TATATCTA others(187): Show TATATCTATATATATCTATATATATATCTATATATATCTATATATATCTA TATATATATCTATATATATCTATATATATCTATATATATCTATATATATA TCTATATATATCTATATATATATCATATATAGATATATATCTATATATAT CTATATATATATCTATATATATCTATATATATATCTATATATATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG01123.hp1 HG02056.hp1 others(2): Show HG00642.hp2 HG01123.hp1 HG02056.hp1 NA18948.hp1 NA18995.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0012 a0001c0001t0004g0195 a0001c0001t0004g0198 others(1): Show a0001c0001t0004g0012 a0001c0001t0004g0195 a0001c0001t0004g0198 a0001c0001t0004g0199	5	260	0.0192	194	c.56 others(205): Show c.5653_*5654insGATATATATAGATATATATATAGATATATATAGA TATATATATAGATATATATAGATATATATCTATATATGATATATATATAG ATATATATAGATATATATATAGATATATATAGATATATATAGATATATAT AGATATATATATAGATATATATAGATATATATAGATATATATATAGATAT ATATAGATAT	PATL1	ENSG00000166889.14	transcript	ENST00000300146.10	protein_coding		3979		chr11	TogoVar
PCBP3_chr21_45638725_45947450	45909792	C C	CCCCCCCC others(187): Show CCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGA TACGGACCCCCCCCACCCACTGCCCAGATACGGACCCCCCCCGCCCACTG CCCAGATACGGACCCCCTCCACCCACTGCCCAGATACGGACCCGGCCACC CACTGCCCAGATACAGACCTGGCCCACCCACTGCCCAGATACGGA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0170 a0001c0001t0001g0170	1	177	0.0056	194	c.471 others(209): Show c.471+313_471+314insACCCACTGCCCAGATACGGACCCCCCCCAC CCACTGCCCAGATACGGACCCCCCCCACCCACTGCCCAGATACGGACCCC CCCCGCCCACTGCCCAGATACGGACCCCCTCCACCCACTGCCCAGATACG GACCCGGCCACCCACTGCCCAGATACAGACCTGGCCCACCCACTGCCCAG ATACGGACCCCCCC	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr21	TogoVar
PERM1_chr1_970198_987093	976722	C C	CAGGAACC others(187): Show CAGGAACCGCCTCCCACTCCCCCCACAACCCCGGGAACCGCCCTCCCCCA CTCCCCCCGCAACCCCGGGAACCGCCTCCCACTCCCCCCGCAACCCCGGG AACCGCCTCCCACTCCCCCCACCAACCCCGGGAACCGCCTCCCACTCCCC CCCGCAACCCCCGGGAACCGCCTCCCCACTCCCCCCGCAACCCCG	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	406	0.0025	194	c.215 others(209): Show c.2150-99_2150-98insCGGGGTTGCGGGGGGAGTGGGGAGGCGGTT CCCGGGGGTTGCGGGGGGGAGTGGGAGGCGGTTCCCGGGGTTGGTGGGGG GAGTGGGAGGCGGTTCCCGGGGTTGCGGGGGGAGTGGGAGGCGGTTCCCG GGGTTGCGGGGGGAGTGGGGGAGGGCGGTTCCCGGGGTTGTGGGGGGAGT GGGAGGCGGTTCCT	PERM1	ENSG00000187642.10	transcript	ENST00000433179.4	protein_coding	2/3			chr1	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCCT others(187): Show CCCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCGCCTCCCCTCCCCC TCCCCCGTCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCATCC CCCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG03491.hp2 HG01952.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0042 a0001c0001t0003 a0001c0001t0042	a0001c0001t0003g0221 a0001c0001t0042g0264 a0001c0001t0003g0221 a0001c0001t0042g0264	2	26	0.0769	194	c.218 others(213): Show c.2189+2324_2189+2325insCCTCCCCTCCCCATCCCCTCCCACTC CGCTCGCCTCCCCTCCCCCTCCCCCGTCCCTCTCCCATCCCCCTCCCCTC TCCCATCCCCCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCC CTCCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCTCCCCCCTTCCCC TCCCCTCCCCCCTTCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHF3_chr6_63630802_63731011	63688231	C C	CCCCCCTC others(187): Show CCCCCCTCCCCTCCCCATCCCCTCCCACTCCGCTCGCCTCCCCTCCCCCT CCCCCGTCCCTCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCATCCC CCTCCCCTCTCCCATCCCCCTCCCCCTCCCCTCCCCCCTCCCCCTCCCCT CCCCCCCTCCCCCTCCCCTCCCCCCTTCCCCTCCCCTCCCCCCTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0003 a0001c0010t0003	a0001c0010t0003g0242 a0001c0010t0003g0242	1	25	0.0400	194	c.218 others(213): Show c.2189+2324_2189+2325insCTCCCCTCCCCATCCCCTCCCACTCC GCTCGCCTCCCCTCCCCCTCCCCCGTCCCTCTCCCATCCCCCTCCCCTCT CCCATCCCCCTCCCATCCCCCTCCCCTCTCCCATCCCCCTCCCCCTCCCC TCCCCCCTCCCCCTCCCCTCCCCCCCTCCCCCTCCCCTCCCCCCTTCCCC TCCCCTCCCCCCTTCCCC	PHF3	ENSG00000118482.12	transcript	ENST00000262043.8	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr6	TogoVar
PHF8_chrX_53931680_54049473	53966850	T T	TCGTCTGA others(187): Show TCGTCTGAGATGTGGGGAGTGCCTTTGCCCCGCCGCCCCGTCTGGGATGT GAGGAGCGCCTCTGCCCGGTCGCGACCCCGTCTGGGAGGTGAGGAGCGTC TCTGCCCAGCCGCCCCATCTGGGAAGGGAGGAGACCCTCCGCCTGGCAAC CGCCCCATCTGAGAAGTGAGGAGACCCTCCGCCCGGCAGCTGCCC	intron_variant intron_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	184	0.0054	194	c.244 others(213): Show c.2444-4105_2444-3912dupGGGCAGCTGCCGGGCGGAGGGTCTCC TCACTTCTCAGATGGGGCGGTTGCCAGGCGGAGGGTCTCCTCCCTTCCCA GATGGGGCGGCTGGGCAGAGACGCTCCTCACCTCCCAGACGGGGTCGCGA CCGGGCAGAGGCGCTCCTCACATCCCAGACGGGGCGGCGGGGCAAAGGCA CTCCCCACATCTCAGACG	PHF8	ENSG00000172943.21	transcript	ENST00000338154.11	protein_coding	18/21			chrX	TogoVar
PJA2_chr5_109329722_109414974	109340619	C C	CCTCTCCC others(187): Show CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCC TCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTC TCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTC CCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCTCTCCCT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00639.hp2 HG02155.hp1 others(3): Show HG00280.hp1 HG00639.hp2 HG02155.hp1 HG02896.hp2 HG04115.hp2 NA19081.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0005 a0003c0003t0002 a0003c0003t0008 a0001c0001t0005 a0003c0003t0002 a0003c0003t0008	a0001c0001t0005g0031 a0003c0003t0002g0072 a0003c0003t0002g0087 others(3): Show a0001c0001t0005g0031 a0003c0003t0002g0072 a0003c0003t0002g0087 a0003c0003t0002g0094 a0003c0003t0002g0112 a0003c0003t0008g0319	6	168	0.0357	194	c.200 others(213): Show c.2002-3264_2002-3263insAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGG AGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAG AGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGAG GGAGAGGGAGAGGGAGAG	PJA2	ENSG00000198961.10	transcript	ENST00000361189.7	protein_coding	9/9			chr5	TogoVar
PLCXD1_chrX_276381_308356	297276	A A	ATGGGGAT others(187): Show ATGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACA TGGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTACCTCAT GGGGATTAGGACGTGGACATCTTTGGGGACATTATTCTGTCTATCACATG GGAATTAGGACGTGGACATCTTTGGGGCCATTATTCTGTCTACCT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02257.hp1 HG00735.hp1 HG02257.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0026 a0002c0005t0100 a0002c0005t0026 a0002c0005t0100	a0002c0005t0026g0031 a0002c0005t0100g0079 a0002c0005t0026g0031 a0002c0005t0100g0079	2	169	0.0118	194	c.734 others(211): Show c.734-1821_734-1820insTGGGGATTAGGACGTGGACATCTTTGGG GACATTATTCTGTCTATCACATGGGGATTAGGACGTGGACATCTTTGGGG ACATTATTCTGTCTACCTCATGGGGATTAGGACGTGGACATCTTTGGGGA CATTATTCTGTCTATCACATGGGAATTAGGACGTGGACATCTTTGGGGCC ATTATTCTGTCTACCT	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	6/6			chrX	TogoVar
PLEKHG4B_chr5_87168_194966	164894	A A	ACACTAAT others(187): Show ACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCG GGGCTCACACTAATGCTCTGACGGGGCGGAGCTCACAGTAATGCTCTGAC GGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCACACTAATGC TCTGACGGGGCGGGGCTCACAGTAATGCTCTGACGGGGCGGGGCT	intron_variant intron_variant	MODIFIER	HG03041.hp2 HG03041.hp2	a0006 a0006	a0006c0021 a0006c0021	a0006c0021t0044 a0006c0021t0044	a0006c0021t0044g0199 a0006c0021t0044g0199	1	184	0.0054	194	c.347 others(213): Show c.3476+1349_3476+1350insTAATGCTCTGACGGGGCGGGGCTCAC AGTAATGCTCTGACGGGGCGGGGCTCACACTAATGCTCTGACGGGGCGGA GCTCACAGTAATGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGG GGCGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCACAGTAATGCTC TGACGGGGCGGGGCTCAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	165410	G G	GCTCTGAT others(187): Show GCTCTGATGGGACGGGGCTCACACTAATGCTCTGACGGGGCGGGGCTCAC AGTAATCCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGA GCTCACACTAATGCTCTGACGGGGCGGGGCTCACTAATGCTCTGACGGGG CGGGGCTCACACTAACGCTCTGACGGGGCGGGGCTCACAGTAATC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0019 a0019	a0019c0030 a0019c0030	a0019c0030t0038 a0019c0030t0038	a0019c0030t0038g0139 a0019c0030t0038g0139	1	202	0.0050	194	c.347 others(213): Show c.3476+1868_3476+1869insTGGGACGGGGCTCACACTAATGCTCT GACGGGGCGGGGCTCACAGTAATCCTCTGACGGGGCGGAGCTCACACTAA TGCTCTGACGGGGCGGAGCTCACACTAATGCTCTGACGGGGCGGGGCTCA CTAATGCTCTGACGGGGCGGGGCTCACACTAACGCTCTGACGGGGCGGGG CTCACAGTAATCCTCTGA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	13/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLPPR1_chr9_101023727_101330135	101078184	A A	AGGGGGAA others(187): Show AGGGGGAAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGG AGGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGGAGGG GGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGG GGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGGAGGGGGAGGGGG	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0006 a0001c0001t0024g0006	1	188	0.0053	194	c.-46 others(213): Show c.-46+49083_-46+49084insGGGGAAGGGGGAGGGGGAGGGGGAGG GGGAGGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGGAGGGGGGA GGGGGAGGGGGAGGGGGGAGGGGGGAGGGGGAGGGGGAGGGGGAGGGGGG AGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAGGGGGAG GGGGGAGGGGGAGGGGGG	PLPPR1	ENSG00000148123.15	transcript	ENST00000374874.8	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr9	TogoVar
PNMA5_chrX_152983824_152999116	152998659	T T	TATATATT others(187): Show TATATATTATATATATAATATATATAATATATATTATATATATTTATATA AAATATATATAATATATATTATATATTATATATAAAATTATATAAATATA TATTATATATATTATATATAAAATATATATAAATAATATATATTATATAT TATATATTATATAATATATAATATATAATATATATTATTTATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0003 a0001c0001t0002g0003	1	169	0.0059	194	c.-49 others(205): Show c.-4957_-4956insTATATAAATAATATATATTATATATTATATATTA TATAATATATAATATATAATATATATTATTTATATATATTTTATATATAA TATATATAATATATATTTATATAATTTTATATATAATATATAATATATAT TATATATATTTTATATAAATATATATAATATATATTATATATATTATATA TATAATATAT	PNMA5	ENSG00000198883.12	transcript	ENST00000535214.6	protein_coding		4544		chrX	TogoVar
PREX1_chr20_48619252_48832999	48685901	C C	CAAAAGAT others(187): Show CAAAAGATAAATCAGAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCG GAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCCACCTG GGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp1 HG01167.hp1 others(33): Show HG00280.hp2 HG00408.hp1 HG01167.hp1 HG01169.hp2 HG01243.hp1 HG01515.hp2 HG01934.hp2 HG01975.hp2 HG02083.hp2 HG02148.hp1 HG02165.hp2 HG02602.hp2 HG02886.hp2 HG03209.hp2 HG03669.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 NA18945.hp1 NA18947.hp2 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18962.hp1 NA18963.hp2 NA18974.hp1 NA18998.hp1 NA19000.hp1 NA19002.hp1 NA19004.hp2 NA19056.hp1 NA19057.hp2 NA19074.hp1 NA19088.hp2	a0002 a0004 a0007 others(1): Show a0002 a0004 a0007 a0019	a0002c0013 a0004c0004 a0004c0007 others(2): Show a0002c0013 a0004c0004 a0004c0007 a0007c0012 a0019c0039	a0002c0013t0003 a0004c0004t0001 a0004c0004t0012 others(5): Show a0002c0013t0003 a0004c0004t0001 a0004c0004t0012 a0004c0004t0013 a0004c0004t0014 a0004c0007t0001 a0007c0012t0001 a0019c0039t0001	a0002c0013t0003g0139 a0004c0004t0001g0028 a0004c0004t0001g0029 others(33): Show a0002c0013t0003g0139 a0004c0004t0001g0028 a0004c0004t0001g0029 a0004c0004t0001g0030 a0004c0004t0001g0031 a0004c0004t0001g0032 a0004c0004t0001g0037 a0004c0004t0001g0048 a0004c0004t0001g0091 a0004c0004t0001g0092 a0004c0004t0001g0122 a0004c0004t0001g0123 a0004c0004t0001g0124 a0004c0004t0001g0129 a0004c0004t0001g0130 a0004c0004t0001g0151 a0004c0004t0001g0154 a0004c0004t0001g0155 a0004c0004t0001g0156 a0004c0004t0001g0157 a0004c0004t0001g0158 a0004c0004t0001g0199 a0004c0004t0001g0203 a0004c0004t0001g0235 a0004c0004t0001g0250 a0004c0004t0001g0252 a0004c0004t0012g0162 a0004c0004t0013g0064 a0004c0004t0014g0144 a0004c0007t0001g0218 a0004c0007t0001g0219 a0004c0007t0001g0220 a0007c0012t0001g0227 a0007c0012t0001g0228 a0007c0012t0001g0229 a0019c0039t0001g0251	36	263	0.1369	194	c.133 others(213): Show c.1334+2755_1334+2756insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGTGGGACTGCGGACTGCAGTGGCGCAAT CTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTA ATTTCTGATTTATCTTTT	PREX1	ENSG00000124126.14	transcript	ENST00000371941.4	protein_coding	10/39			chr20	TogoVar
PRKAG2_chr7_151551127_151882115	151854999	G G	GCCCTCCA others(187): Show GCCCTCCACACACACCATGCTCCACACACACCGCCCTCCACACACACCGC CCTCCACACACACCATCCTCCACACACACCATCCTCCACACACACCACCC TACACACACACCGCCCTCCACACACACCACCCTACACACACACCATCCTC CACACACACCACCCTCCACACACACCACCCTCCACACACACCGCC	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0036 a0001c0001t0002g0036	1	33	0.0303	194	c.114 others(213): Show c.114+21507_114+21508insGGCGGTGTGTGTGGAGGGTGGTGTGT GTGGAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGTAGGGTGGTGTGTGT GGAGGGCGGTGTGTGTGTAGGGTGGTGTGTGTGGAGGATGGTGTGTGTGG AGGATGGTGTGTGTGGAGGGCGGTGTGTGTGGAGGGCGGTGTGTGTGGAG CATGGTGTGTGTGGAGGG	PRKAG2	ENSG00000106617.16	transcript	ENST00000287878.9	protein_coding	1/15			chr7	TogoVar
PRKX_chrX_3599340_3718649	3639300	G G	GGGGGGTG others(187): Show GGGGGGTGGATGGATGAAGGGTGGGTGGATGGATGATTGAATGAAGGGGT GGGGGTGGATGGATGAAGGGGTGGGGGGGGTGGATGATTGAATGAAGGGG TGGGGGTGGATGGATGAAGGGGTGGGGTGGTAGATGGATGAAGGGGTAGA GGGGTGGGGGGGTGGGGGGGTGGGTGCATGGATGGATGAAGGGGT	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0047 a0001c0002t0047	a0001c0002t0047g0053 a0001c0002t0047g0053	1	212	0.0047	194	c.719 others(211): Show c.719+2551_719+2552insACCCCTTCATCCATCCATGCACCCACCC CCCCACCCCCCCACCCCTCTACCCCTTCATCCATCTACCACCCCACCCCT TCATCCATCCACCCCCACCCCTTCATTCAATCATCCACCCCCCCCACCCC TTCATCCATCCACCCCCACCCCTTCATTCAATCATCCATCCACCCACCCT TCATCCATCCACCCCC	PRKX	ENSG00000183943.6	transcript	ENST00000262848.6	protein_coding	4/8			chrX	TogoVar
PRODH2_chr19_35794988_35817845	35809804	C C	CAAAAAAT others(187): Show CAAAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAG TGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCC GTCTCAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02630.hp2 HG02965.hp2 others(3): Show HG02486.hp1 HG02630.hp2 HG02965.hp2 HG03041.hp2 HG03540.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0132 a0001c0001t0001g0146 others(2): Show a0001c0001t0001g0035 a0001c0001t0001g0132 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0160	6	423	0.0142	194	c.597 others(211): Show c.597+2157_597+2158insTTTTTTTTTTTTTTTTTTTTTTTTGTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGT GGCGCAATCTCGGCTCACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATT CTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCTACCAC GCCCGGCTAATTTTTT	PRODH2	ENSG00000250799.11	transcript	ENST00000653904.2	protein_coding	4/9			chr19	TogoVar
PROZ_chr13_113153648_113177386	113154168	C C	CGGGGCGC others(187): Show CGGGGCGCGGGGGAGGCGGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGAG GAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAGGGCACGTGACGCAGG GCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGC GCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGGAGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19062.hp2 NA19062.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0015 a0001c0001t0002g0015	1	374	0.0027	194	c.-44 others(205): Show c.-4493_-4492insGGGGCGCGGGGGAGGCGGGGGCGCGGGGGAGGCG GGGCGCGGGGGAGAGGAGGGGCGTGGGGGGCGGGGCGTCGGGGAGGGCAG GGCACGTGACGCAGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCG CGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCGGGGGAGGCGGGGCGCG GGGGGAGGCG	PROZ	ENSG00000126231.15	transcript	ENST00000375547.7	protein_coding		4479		chr13	TogoVar
PTDSS2_chr11_445279_496399	486014	C C	CGTGTGCT others(187): Show CGTGTGCTCACCGTGCGCGCAGGCGAGCGTAAACAGTGCACGGGCGCGCG TGTGCTCACCGTGCGCTCAGGCGAGCGTAAACAGTGCACGGGCGCGCGTG TGCTCACCGTGCGCTCAGGCGAGCGTAAACAGTGCACGGGCGCGCGTGTG CTCACCGTGCGCGCAGGCGAGCGTAAACAGTGCACGGGCGCGTGT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0299 a0004c0007t0012g0299	1	333	0.0030	194	c.436 others(209): Show c.436-922_436-921insTGCTCACCGTGCGCGCAGGCGAGCGTAAAC AGTGCACGGGCGCGCGTGTGCTCACCGTGCGCTCAGGCGAGCGTAAACAG TGCACGGGCGCGCGTGTGCTCACCGTGCGCTCAGGCGAGCGTAAACAGTG CACGGGCGCGCGTGTGCTCACCGTGCGCGCAGGCGAGCGTAAACAGTGCA CGGGCGCGTGTGTG	PTDSS2	ENSG00000174915.12	transcript	ENST00000308020.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr11	TogoVar
PTPRG_chr3_61556571_62302609	61987705	T T	TAAAATTC others(187): Show TAAAATTCCTATTTTGTACAAAAAATTAGCCGGGCGCGGTGGCGGGCGCC TGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCG GGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCCGCAGTC CGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0009 a0001c0005t0009	a0001c0005t0009g0022 a0001c0005t0009g0022	1	88	0.0114	194	c.191 others(211): Show c.191-1905_191-1904insTACAAAAAATTAGCCGGGCGCGGTGGCG GGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTG AACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCAGTCC GCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAA AAAAATTCCTATTTTG	PTPRG	ENSG00000144724.20	transcript	ENST00000474889.6	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr3	TogoVar
PWWP2B_chr10_132392200_132422859	132392575	G G	GATGGTGA others(187): Show GATGGTGATGATGGTGGTGGTGGTGATAATGGTGATGGTGGTGGTGGTGG TAATGGTGATGGTGATGATGGTGATGGTGATGATGGTGATGGTGATGGTA GTGGTGATGGGGGTGGTGGTAATGATGATGGTGATGGTGATGATGGTGAT GTGATAATGGTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0148 a0003c0005t0001g0148	1	367	0.0027	194	c.-46 others(205): Show c.-4652_-4651insATGGTGATGATGGTGGTGGTGGTGATAATGGTGA TGGTGGTGGTGGTGGTAATGGTGATGGTGATGATGGTGATGGTGATGATG GTGATGGTGATGGTAGTGGTGATGGGGGTGGTGGTAATGATGATGGTGAT GGTGATGATGGTGATGTGATAATGGTGATGGTGATGGTAGTGGTGATGGG GGTGGTGGTA	PWWP2B	ENSG00000171813.14	transcript	ENST00000305233.6	protein_coding		4624		chr10	TogoVar
RAB11FIP3_chr16_420649_528011	458501	C C	CCACAGGG others(187): Show CCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCT GGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCC TCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACC GATGCCCACAGGGCCTGGGGGGCCTTCCTCGGGTTCAGTGATGCT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0032 a0001c0001t0032	a0001c0001t0032g0164 a0001c0001t0032g0164	1	280	0.0036	194	c.715 others(211): Show c.715-2849_715-2848insCCTTCCTCGGGTTCACCGATGCCCACAG GGCCTGGGGGGCCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGG CCTTCCTCGGGTTCACCGATGCCCACAGGGCCTGGGGGGCCTTCCTCGGG TTCAGTGATGCTCACAGGGCCTGGGGGGCCTTCCTCGGGTTCACCGATGC CCACAGGGCCTGGGGG	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB11FIP3_chr16_420649_528011	504692	T T	TCCTCCTG others(187): Show TCCTCCTGTACCCCCCTCACCTCCTCCTGTACCCCCCTCACCTCCTCCTG CACTCCCATCTCCTCCTGTACCCCCTTACCTCCTTGTGCACCCCTCACCT CCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCTTCCTGTACCC TTCACTTCCTCCTGTACCCCCTCACCTCCTCCTGCACCCCCCTTA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02615.hp2 HG02630.hp1 others(4): Show HG01891.hp2 HG02615.hp2 HG02630.hp1 HG02976.hp2 HG03098.hp1 HG03209.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0024 a0001c0001t0042 others(2): Show a0001c0001t0015 a0001c0001t0024 a0001c0001t0042 a0001c0001t0057 a0001c0001t0061	a0001c0001t0015g0123 a0001c0001t0015g0136 a0001c0001t0024g0128 others(4): Show a0001c0001t0015g0123 a0001c0001t0015g0136 a0001c0001t0024g0128 a0001c0001t0024g0183 a0001c0001t0042g0126 a0001c0001t0057g0124 a0001c0001t0061g0108	7	292	0.0240	194	c.139 others(211): Show c.1396-821_1396-820insCCCCTCACCTCCTCCTGTACCCCCCTCA CCTCCTCCTGCACTCCCATCTCCTCCTGTACCCCCTTACCTCCTTGTGCA CCCCTCACCTCCTGTACCCCCTCACCTCCTCCTGTACCCCCCTCACCTCT TCCTGTACCCTTCACTTCCTCCTGTACCCCCTCACCTCCTCCTGCACCCC CCTTACCTCCTGTACC	RAB11FIP3	ENSG00000090565.17	transcript	ENST00000262305.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
RAB3C_chr5_58578075_58864394	58598255	T T	TTATATAT others(187): Show TTATATATAAGTATACGATAACATGTAATACATTATATATAAGTATACGA TAACATGTAATACATTATATATAAGTATACGATAACATGTAATACATTAT ATATAAGTATACGATAACATGTAATACATTATATATAAGTATACGATAAC ATGTAATACATTATATATAAGTATACGATAACATGTAATACATTA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0149 a0001c0001t0005g0149	1	178	0.0056	194	c.24+ others(211): Show c.24+15031_24+15032insAGTATACGATAACATGTAATACATTATA TATAAGTATACGATAACATGTAATACATTATATATAAGTATACGATAACA TGTAATACATTATATATAAGTATACGATAACATGTAATACATTATATATA AGTATACGATAACATGTAATACATTATATATAAGTATACGATAACATGTA ATACATTATATATATA	RAB3C	ENSG00000152932.8	transcript	ENST00000282878.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr5	TogoVar
RFX3_chr9_3213297_3531001	3504951	T T	TATATAAT others(187): Show TATATAATATATAATATATCTTATATAATATATAATATATAATATATCTT ATATAATATATAATATATAATATATCTTATATAATATATAATATATAATA TATCTTATATAATATATAATATATAATATATCTTATATAATATATAATAT ATAATATATCTTATATAATATATAATATATAATATATCTTATATA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0064 a0001c0001t0007g0064	1	160	0.0063	194	c.-9+ others(211): Show c.-9+20795_-9+20796insTATATAAGATATATTATATATTATATAT TATATAAGATATATTATATATTATATATTATATAAGATATATTATATATT ATATATTATATAAGATATATTATATATTATATATTATATAAGATATATTA TATATTATATATTATATAAGATATATTATATATTATATATTATATAAGAT ATATTATATATTATAT	RFX3	ENSG00000080298.16	transcript	ENST00000617270.5	protein_coding	1/16			chr9	TogoVar
RIN2_chr20_19753258_20007456	19861554	C C	CTGATCAC others(187): Show CTGATCACCCTCCATATCTGATGATCACCCTCCATATCTGGTGATCACCC TCCATATCTGATGATCACCCTCCATATCTAATGATCACCCTCCATATCTG ATCACTCTCCATATCTGATGATGACCCTCCGTATCTGATCAACCTCCATA TCTGATGATCATCCTCCATATCTGATGCTCACCCTCCATATCCGA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0248 a0001c0002t0002g0248	1	274	0.0036	194	c.-36 others(213): Show c.-36-27972_-36-27779dupGTGATCACCCTCCATATCTGATGATC ACCCTCCATATCTAATGATCACCCTCCATATCTGATCACTCTCCATATCT GATGATGACCCTCCGTATCTGATCAACCTCCATATCTGATGATCATCCTC CATATCTGATGCTCACCCTCCATATCCGATGATCACCCTCCATATCTGAT GATCACCCTCCATATCTG	RIN2	ENSG00000132669.14	transcript	ENST00000255006.12	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr20	TogoVar

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