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
TC2N_chr14_91774746_91872536	91780905	T T	TAAAACAT others(312): Show TAAAACATTTAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCC CGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGTAGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCC GCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAA AAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0021 a0001c0001t0025g0021	1	344	0.0029	319	c.21 others(330): Show c.2194_*2195insTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCTGCCACTACGCCCGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCCTAAATGTTTT	TC2N	ENSG00000165929.13	transcript	ENST00000435962.7	protein_coding	12/12	2194		chr14	TogoVar
TERB1_chr16_66749640_66806584	66805483	T T	TGAAAAAT others(312): Show TGAAAAATTAGCCAGGCTGCTGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGCGATCAAGAC CATCCTGGCTAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAG CCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCTGAGATC GCGCCACTGCACTCCAGCCTGGGCAACACAGCGAGACTCCGTCTCAAAAA AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0035 a0001c0003t0001g0035	1	352	0.0028	319	c.-41 others(330): Show c.-4126_-4125insTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACT GCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGA GTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTTTTTTGTATTTT TAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCGCCTG ACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCAGCAGCCTGGCTAATTTTTC	TERB1	ENSG00000249961.10	transcript	ENST00000433154.6	protein_coding		3900		chr16	TogoVar
TERT_chr5_1248167_1300068	1273495	G G	GACCGCCA others(312): Show GACCGCCATCCACAGTCACCACATCAGACCCCACGACCGCCATCCACAGT CACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGA CCCCACGACCGCCATCCACAGTCACCACACATCAGACCCCTGTGACCGAT CGCCATCCACAGTCACCACACATCAGACCCCACAACCGCCATCCACAGTC ACCACACATCAGACCCCACGACCGCCATCCACAGTCACCACACATCAGAC CCCACGACCGCCATCCACAGTCACCACACATCAGACCCCCACAACCGCCA TCCACAGTCACCACACATCA	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0376 a0001c0001t0001g0376	1	392	0.0026	319	c.228 others(338): Show c.2287-1216_2287-1215insTGATGTGTGGTGACTGTGGATGGCGG TTGTGGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGA TGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGT GGATGGCGGTTGTGGGGTCTGATGTGTGGTGACTGTGGATGGCGATCGGT CACAGGGGTCTGATGTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGAT GTGTGGTGACTGTGGATGGCGGTCGTGGGGTCTGATGTGTGGTGACTGTG GATGGCGGTCGTGGGGTCTGATGTGGTGACTGTGGATGGCGGT	TERT	ENSG00000164362.21	transcript	ENST00000310581.10	protein_coding	6/15			chr5	TogoVar
TES_chr7_116205539_116263783	116225172	T T	TAAAAACA others(312): Show TAAAAACACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTT GGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCATCCCA GCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGG GCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGG AGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGC CACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAA AAAAAAAAAAACAAAAACAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02486.hp2 HG02622.hp2 others(4): Show HG02280.hp1 HG02486.hp2 HG02622.hp2 HG02976.hp2 HG03195.hp1 HG03453.hp1 NA18962.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0006 a0001c0002t0001 a0001c0002t0006	a0001c0002t0001g0211 a0001c0002t0006g0026 a0001c0002t0006g0057 others(3): Show a0001c0002t0001g0211 a0001c0002t0006g0026 a0001c0002t0006g0057 a0001c0002t0006g0058 a0001c0002t0006g0059 a0001c0002t0006g0100	7	386	0.0181	319	c.28- others(334): Show c.28-9353_28-9352insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGA GACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGG CTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCC GAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCT CAAAAAAAAAAAAAAAAAAAACAAAAACAAAAAAACACT	TES	ENSG00000135269.18	transcript	ENST00000358204.9	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr7	TogoVar
TMEFF2_chr2_191944046_192199933	191975313	T T	TAAGATTT others(312): Show TAAGATTTTATTCTCGGCCGGGCGCGGTGGCTCACGCCTGTAGTCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATT AGCCGGGCGCGGTGGCGGGCGCCTGTAGTTCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCTTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TTCCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	164	0.0061	319	c.746 others(338): Show c.746-18936_746-18935insTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGGAATCTCGG CTCACTGCAAGCTCCGCCTCCCGGGTTCAAGCCATTCTCCTGCCTCAGCC TCCCGAGTAGCTGGAACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTT TTGTATTTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCT CGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGG ACTACAGGCGTGAGCCACCGCGCCCGGCCGAGAATAAAATCTT	TMEFF2	ENSG00000144339.12	transcript	ENST00000272771.10	protein_coding	7/9			chr2	TogoVar
TMEM135_chr11_87032934_87333824	87304461	T T	TAGAAGTG others(312): Show TAGAAGTGTGAAGAGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATTGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAGT TAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0165 a0001c0001t0044g0165	1	274	0.0037	319	c.699 others(336): Show c.699-1459_699-1458insGGCCGGGCGCGGTGGCTCACGCCTGTAA TCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATT GAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAA AAAGTTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAG CCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGT CTCAAAAAAAAAAAAAAAAAAAAAAAGAAGTGTGAAGAGTG	TMEM135	ENSG00000166575.17	transcript	ENST00000305494.6	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr11	TogoVar
TMEM163_chr2_134450759_134724000	134608358	A A	AAGGACAG others(312): Show AAGGACAGACCCCGAGAACTGTACTGGTGAAAAGGAGGACAGACCCCGAG AACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGG ACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCGAGAACTGTG CTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGAGGACAG ACCCCGAGAACTTTGCTGGTGAAAAGGACAGACCCCGAGAACTGTGCTGG TGAAAAGGACAGACCCCGAGAACTGTGCTGGTGAAAAGGACAGACCCCAA GAACTGTGCTGGTGAAAAGG	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18994.hp1 NA18963.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0048 a0001c0001t0003g0084 a0001c0001t0001g0048 a0001c0001t0003g0084	2	222	0.0090	319	c.323 others(338): Show c.323-56268_323-56267insCCTTTTCACCAGCACAGTTCTTGGGG TCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCA CAGTTCTCGGGGTCTGTCCTTTTCACCAGCAAAGTTCTCGGGGTCTGTCC TCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGT TCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGGGTCTGTCCTTTT CACCAGCACAGTTCTCGGGGTCTGTCCTTTTCACCAGCACAGTTCTCGGG GTCTGTCCTCCTTTTCACCAGTACAGTTCTCGGGGTCTGTCCT	TMEM163	ENSG00000152128.13	transcript	ENST00000281924.6	protein_coding	2/7			chr2	TogoVar
TMEM41B_chr11_9275654_9319593	9309513	C C	CAGAGCTT others(312): Show CAGAGCTTCCTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCCCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02258.hp1 HG02622.hp1 others(1): Show HG01346.hp1 HG02258.hp1 HG02622.hp1 HG03453.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0019 a0001c0006t0028 a0001c0006t0037 a0001c0006t0019 a0001c0006t0028 a0001c0006t0037	a0001c0006t0019g0261 a0001c0006t0019g0262 a0001c0006t0028g0260 others(1): Show a0001c0006t0019g0261 a0001c0006t0019g0262 a0001c0006t0028g0260 a0001c0006t0037g0259	4	370	0.0108	319	c.121 others(336): Show c.121+4807_121+4808insTGGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGGGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAGGAAGCTCT	TMEM41B	ENSG00000166471.11	transcript	ENST00000528080.6	protein_coding	1/6			chr11	TogoVar
TMPRSS2_chr21_41459305_41513158	41474841	G G	GAGGGGGT others(312): Show GAGGGGGTGAGTGAGGGGGTGGGTGAGGGGTGGGTGAGGGGATGAGGGAG TGATTCAGAGGGTGAAGGGGTGAGTGAGGGAGTGAAGGCATGATTGAGGG GGTGAAGGGGTGAGTGAGGGGGTGACTGAGGGGTGAAGGGGGGAGTGAGG AGGAGAGTGAGGGGGTGAAGGCATGAGTGAGGGGGTGAATGGGTGAGAGA CGGGGTGAGTGAGGGGTGAAGGGATGAATGAGGGGGTAAGTAAGGGGTTG AGGGGGTGAGGGGGTGAGTGAGGAGGTGAAGGGTGAGTGAGGGCGTGAGG GGGTGAGGGAGTGAGGGATT	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0364 a0001c0001t0001g0364	1	382	0.0026	319	c.728 others(336): Show c.728-1346_728-1345insAATCCCTCACTCCCTCACCCCCTCACGC CCTCACTCACCCTTCACCTCCTCACTCACCCCCTCACCCCCTCAACCCCT TACTTACCCCCTCATTCATCCCTTCACCCCTCACTCACCCCGTCTCTCAC CCATTCACCCCCTCACTCATGCCTTCACCCCCTCACTCTCCTCCTCACTC CCCCCTTCACCCCTCAGTCACCCCCTCACTCACCCCTTCACCCCCTCAAT CATGCCTTCACTCCCTCACTCACCCCTTCACCCTCTGAATCACTCCCTCA TCCCCTCACCCACCCCTCACCCACCCCCTCACTCACCCCCT	TMPRSS2	ENSG00000184012.14	transcript	ENST00000332149.10	protein_coding	8/13			chr21	TogoVar
TMPRSS6_chr22_37060436_37114713	37097657	G G	GCGGCCAC others(312): Show GCGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAA CGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGC CACCGTCCTGTAACGGAGGGGGAAGAGCGGGTCACCGTCCTGTAACGGAG GGGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACC GTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGC AGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCC TGTAACGGAGGGGCAGGAGC	intron_variant intron_variant	MODIFIER	HG00738.hp2 NA19043.hp2 NA20805.hp1 HG00738.hp2 NA19043.hp2 NA20805.hp1	a0001 a0001	a0001c0004 a0001c0007 a0001c0013 a0001c0004 a0001c0007 a0001c0013	a0001c0004t0002 a0001c0007t0002 a0001c0013t0001 a0001c0004t0002 a0001c0007t0002 a0001c0013t0001	a0001c0004t0002g0324 a0001c0007t0002g0323 a0001c0013t0001g0060 a0001c0004t0002g0324 a0001c0007t0002g0323 a0001c0013t0001g0060	3	348	0.0086	319	c.336 others(334): Show c.336+758_336+759insGCTCCTGCCCCTCCGTTACAGGACGGTGGC CCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGT TACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGC TCCTGCCCCTCCGTTACAGGACGGTGGCCCTCTCCTCCCCCTCCGTTACA GGACGGTGACCCGCTCTTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTG CCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACG GTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCG	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37097701	T T	TTGTAACG others(312): Show TTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGG AGCGGCCACCGTCCTGTAACGGAGGGGGAAGAGCGGGTCACCGTCCTGTA ACGGAGGGGGAGGAGAGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGG GCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGG AGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGGGCCA CCGTCCTGTAACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGG GCAGGAGCGGGCCACCGTCC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00639.hp2 HG00733.hp2 others(18): Show HG00423.hp1 HG00639.hp2 HG00733.hp2 HG01175.hp2 HG01346.hp1 HG01361.hp2 HG02015.hp2 HG02132.hp2 HG02602.hp2 HG03490.hp2 HG03704.hp1 HG03831.hp2 HG03927.hp2 HG03942.hp1 NA18747.hp1 NA18944.hp1 NA18951.hp1 NA19062.hp1 NA19084.hp2 NA20300.hp1 NA20805.hp2	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0009	a0001c0007 a0001c0013 a0001c0021 others(9): Show a0001c0007 a0001c0013 a0001c0021 a0003c0002 a0003c0008 a0003c0010 a0003c0018 a0003c0023 a0003c0037 a0003c0057 a0004c0068 a0009c0042	a0001c0007t0001 a0001c0013t0001 a0001c0021t0001 others(9): Show a0001c0007t0001 a0001c0013t0001 a0001c0021t0001 a0003c0002t0001 a0003c0008t0001 a0003c0010t0001 a0003c0018t0001 a0003c0023t0001 a0003c0037t0001 a0003c0057t0001 a0004c0068t0002 a0009c0042t0005	a0001c0007t0001g0206 a0001c0013t0001g0056 a0001c0021t0001g0092 others(18): Show a0001c0007t0001g0206 a0001c0013t0001g0056 a0001c0021t0001g0092 a0003c0002t0001g0085 a0003c0002t0001g0269 a0003c0002t0001g0303 a0003c0008t0001g0032 a0003c0008t0001g0055 a0003c0008t0001g0057 a0003c0008t0001g0058 a0003c0010t0001g0067 a0003c0010t0001g0084 a0003c0010t0001g0086 a0003c0018t0001g0114 a0003c0018t0001g0297 a0003c0023t0001g0033 a0003c0023t0001g0059 a0003c0037t0001g0053 a0003c0057t0001g0113 a0004c0068t0002g0339 a0009c0042t0005g0054	21	348	0.0603	319	c.336 others(334): Show c.336+714_336+715insGGACGGTGGCCCGCTCCTGCCCCTCCGTTA CAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTC CTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGG ACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGC CCCTCCGTTACAGGACGGTGGCCCTCTCCTCCCCCTCCGTTACAGGACGG TGACCCGCTCTTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTC CGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACA	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TMPRSS6_chr22_37060436_37114713	37097815	G G	GAGGGCCA others(312): Show GAGGGCCACCGTCCTGTAACGGAGGGGGAGGAGAGGGCCACCGTCCTGTA ACGGAGGGGCAGGAGCGGGCCACCGTCCTGTAACGGAGGGGCAGGAGCGG GCCACCGTCCTGTAACGGAGGGGGAGGAGTGGGCCACCGTCCTGTAACGG AGGGGCAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAGGAGCGGGCCAC CGTCCTGTAACGGAGGGGGAGGGGCGGGCCACCGTCCTGTAACGGAGGGG CAGGAGCGGCCACCGTCCTGTAACGGAGGGGGAAGAGCGGGCCACCGTCC TGTAACGGAGGGGGAGGAGC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01256.hp2 HG01255.hp1 HG01256.hp2	a0004 a0004	a0004c0011 a0004c0011	a0004c0011t0001 a0004c0011t0001	a0004c0011t0001g0198 a0004c0011t0001g0207 a0004c0011t0001g0198 a0004c0011t0001g0207	2	348	0.0058	319	c.336 others(334): Show c.336+600_336+601insGCTCCTCCCCCTCCGTTACAGGACGGTGGC CCGCTCTTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGTT ACAGGACGGTGGCCCGCCCCTCCCCCTCCGTTACAGGACGGTGGCCCGCT CCTCCCCCTCCGTTACAGGACGGTGGCCGCTCCTGCCCCTCCGTTACAGG ACGGTGGCCCACTCCTCCCCCTCCGTTACAGGACGGTGGCCCGCTCCTGC CCCTCCGTTACAGGACGGTGGCCCGCTCCTGCCCCTCCGTTACAGGACGG TGGCCCTCTCCTCCCCCTCCGTTACAGGACGGTGGCCCT	TMPRSS6	ENSG00000187045.19	transcript	ENST00000676104.1	protein_coding	3/17			chr22	TogoVar
TNS3_chr7_47270154_47587111	47552027	A A	AAAGGGGC others(312): Show AAAGGGGCGGCATTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTA GCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTT TAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTG ACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCG TGAGCCACCGCGCCCGGCCC	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0037 a0001c0001t0033g0037	1	196	0.0051	319	c.-26 others(340): Show c.-264-22881_-264-22880insGGGCCGGGCGCGGTGGCTCACGCC TGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGG AGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAA TACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACT CGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAGAATGCCGCCCCTT	TNS3	ENSG00000136205.18	transcript	ENST00000311160.14	protein_coding	1/30			chr7	TogoVar
TP53AIP1_chr11_128930370_128947871	128930591	A A	AGGGTTAA others(312): Show AGGGTTAAGGAGGCCGGGGGTAGGGAGGCTGGGGGTTAGGAAGGCTGGGG TTAGGAAGGCCGGGGTTAGGGAGGCCAGGGGTCAGGGAGGCCAGGGGTTA GGGAGGCCAGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAG GCCGGGGTTAGGGAGCCCGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCAG GGTAGGGAGGCTGGGGTTAGGGAGGCTGGGGTTAGGGAGGCCGGGGTTAG GGAGGCCGGGGTTAGGGAGGCCGGGGTTAGGGAGGCTGGGGTTAGGGAGG CCAGGGGTTAGGGAGGCCAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	466	0.0022	319	c.49 others(330): Show c.4999_*5000insCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCA GCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTC CCTAACCCCAGCCTCCCTAACCCCAGCCTCCCTACCCTGGCCTCCCTAAC CCCAGCCTCCCTAACCCCGGGCTCCCTAACCCCGGCCTCCCTAACCCCAG CCTCCCTAACCCCGGCCTCCCTAACCCTGGCCTCCCTAACCCCTGGCCTC CCTGACCCCTGGCCTCCCTAACCCCGGCCTTCCTAACCCCAGCCTTCCTA ACCCCCAGCCTCCCTACCCCCGGCCTCCTTAACCC	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4778		chr11	TogoVar
TP53AIP1_chr11_128930370_128947871	128930730	G G	GTTAGGGA others(312): Show GTTAGGGAGGCCGGGGTTATGGAGGCAGGGATTATGGAGGCAGGGATTAG GGAGGCAGGGATTAGGGAGGCAGGGATTAGGGAGGCCGGGGTTAGGGAGG CCGGGGTTATGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGGGAGGCCGG GGTTAGGGAGGCCGGGGTTAGGGAGGCCGGGGTTAGAGAGGCCAGGGGTT AGGGAGGCCAGGGGTTAGGGAGGCCAGGGGTTAGGGAGGCCGGGGTTAGG GAGGCCGGGGTTAGGGAGGCAGGGGTTATGGAGGCAGGGATTATGGAGGC AGGGATTATGGAGGCAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02698.hp2 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	466	0.0022	319	c.48 others(330): Show c.4860_*4861insTCCCTGCCTCCATAATCCCTGCCTCCATAATCCC TGCCTCCATAACCCCTGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCT CCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCCCTAACCCCTGGCCTCT CTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAACCCCGGCCTCCCTAAC CCCGGCCTCCCTAACCCCTGGCCTCCATAACCCCGGCCTCCCTAACCCCG GCCTCCCTAATCCCTGCCTCCCTAATCCCTGCCTCCCTAATCCCTGCCTC CATAATCCCTGCCTCCATAACCCCGGCCTCCCTAA	TP53AIP1	ENSG00000120471.16	transcript	ENST00000531399.6	protein_coding		4639		chr11	TogoVar
TP73_chr1_3647516_3741201	3694656	C C	CTCAGACC others(312): Show CTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTC CCGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCAGCC ATGCAGCCTCAGCCCCTCCTCCTGCAATCCCAGCCATGCAGCCTCAGACC CTTCCTCCCACAATCCCACCCATGCAGCCTCAGCCCCTCCTCCCGCAATC CCAGCCATGCAGCCTCAGCCCCCTCCTCCCACAATCCCACCCATGCAGCC TCAGCCCCTCCTCCTGCAATCCCACCCATGCAGCCTCAGCCCCTCCTCCC GCAATCCCACCCATGCATCT	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0162 a0001c0002t0001g0162	1	358	0.0028	319	c.186 others(338): Show c.186+11480_186+11481insACCCTTCCTCCCACAATCCCACCCAT GCAGCCTCAGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCC TCCTCCCACAATCCCAGCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCC AGCCATGCAGCCTCAGACCCTTCCTCCCACAATCCCACCCATGCAGCCTC AGCCCCTCCTCCCGCAATCCCAGCCATGCAGCCTCAGCCCCCTCCTCCCA CAATCCCACCCATGCAGCCTCAGCCCCTCCTCCTGCAATCCCACCCATGC AGCCTCAGCCCCTCCTCCCGCAATCCCACCCATGCATCTTCAG	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
TP73_chr1_3647516_3741201	3737472	A A	AGAATATG others(312): Show AGAATATGGGCTTTTCTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0039 a0001c0017t0039	a0001c0017t0039g0132 a0001c0017t0039g0132	1	358	0.0028	319	c.43 others(330): Show c.4393_*4394insGAATATGGGCTTTTCTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCG ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGC CTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	TP73	ENSG00000078900.16	transcript	ENST00000378295.9	protein_coding		1272		chr1	TogoVar
TPO_chr2_1408463_1548673	1480810	C C	CGTCCACA others(312): Show CGTCCACACCACCTCCCTCCTCCTTCATCCGTCCAAACCATGTTTCTCCT GCTGCATCCGTCCACACCACCTCCCTCCTCCTGCATCCGTCCACACCACC TCCCTCCTCCTGCATCCGTCCACACCACCTCCCTCCTCCTTCATCCGTCC AAACCATGTTTCTCCTGCTGCATCCGTCCACACCACCTCCCTCCTCCTGC ATCCGTCCACACCACCTCCCTCCTCCTGCATCCGTCCACACCACCTTCCT CCTGCTGCATCCGTCCACACCACGTCCCTGCTGCTGCGTCTGTCCTCACC ACGTCCCTGCTGCTGCGTCT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0008 a0004c0007t0008	a0004c0007t0008g0102 a0004c0007t0008g0102	1	130	0.0077	319	c.133 others(338): Show c.1338+3217_1338+3218insCTCCCTCCTCCTTCATCCGTCCAAAC CATGTTTCTCCTGCTGCATCCGTCCACACCACCTCCCTCCTCCTGCATCC GTCCACACCACCTCCCTCCTCCTGCATCCGTCCACACCACCTCCCTCCTC CTTCATCCGTCCAAACCATGTTTCTCCTGCTGCATCCGTCCACACCACCT CCCTCCTCCTGCATCCGTCCACACCACCTCCCTCCTCCTGCATCCGTCCA CACCACCTTCCTCCTGCTGCATCCGTCCACACCACGTCCCTGCTGCTGCG TCTGTCCTCACCACGTCCCTGCTGCTGCGTCTGTCCACACCAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TPO_chr2_1408463_1548673	1480810	C C	CGTCCACA others(312): Show CGTCCACACCACCTTCCTCCTGCTGCATCCGTCCACACCACCTCCCTCCT CCTTCATCCGTCCACACCACCTTCCTCCTGCTGCATCCGTCCACACCACC TCCCTCCTCCTTCATCCGTCCAAACCATGTTTCTCCTGCTGCATCCGTCC ACACCACCTCCCTCCTCCTGCATCCGTCCACACCACCTCCCTCCTCCTGC ATCCGTCCACACCACCTCCCTCCTCCTGCATCCGTCCACACCACCTTCCT CCTGCTGCATCCGTCCACACCACGTCCCTGCTGCTGCGTCTGTCCTCACC ACGTCCCTGCTGCTGCGTCT	intron_variant intron_variant	MODIFIER	HG02056.hp1 NA18999.hp1 HG02056.hp1 NA18999.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0002 a0010c0010t0002	a0010c0010t0002g0025 a0010c0010t0002g0068 a0010c0010t0002g0025 a0010c0010t0002g0068	2	130	0.0154	319	c.133 others(338): Show c.1338+3217_1338+3218insCTTCCTCCTGCTGCATCCGTCCACAC CACCTCCCTCCTCCTTCATCCGTCCACACCACCTTCCTCCTGCTGCATCC GTCCACACCACCTCCCTCCTCCTTCATCCGTCCAAACCATGTTTCTCCTG CTGCATCCGTCCACACCACCTCCCTCCTCCTGCATCCGTCCACACCACCT CCCTCCTCCTGCATCCGTCCACACCACCTCCCTCCTCCTGCATCCGTCCA CACCACCTTCCTCCTGCTGCATCCGTCCACACCACGTCCCTGCTGCTGCG TCTGTCCTCACCACGTCCCTGCTGCTGCGTCTGTCCACACCAC	TPO	ENSG00000115705.22	transcript	ENST00000329066.9	protein_coding	8/16		INFO_REALIGN_3_PRIME	chr2	TogoVar
TRAK1_chr3_42086357_42230890	42192955	T T	TCTACCCT others(312): Show TCTACCCTGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG02280.hp2 HG01934.hp1 HG02280.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0012 a0001c0008t0012	a0001c0008t0012g0142 a0001c0008t0012g0143 a0001c0008t0012g0142 a0001c0008t0012g0143	2	288	0.0069	319	c.770 others(334): Show c.770-106_770-105insTTTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCCTACCCTGTCTTTT	TRAK1	ENSG00000182606.17	transcript	ENST00000327628.10	protein_coding	7/15		INFO_REALIGN_3_PRIME	chr3	TogoVar
TRAPPC3L_chr6_116489989_116550684	116522977	T T	TAAAATGT others(312): Show TAAAATGTGGATTGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAA TTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCT GAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGA GATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG00639.hp2 others(13): Show HG00140.hp1 HG00280.hp2 HG00639.hp2 HG01167.hp1 HG01169.hp1 HG01261.hp1 HG01358.hp2 HG01515.hp1 HG01517.hp2 NA18961.hp1 NA18970.hp2 NA18998.hp1 NA19007.hp1 NA19009.hp1 NA19078.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0008	a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0075 others(9): Show a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0075 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0322 a0001c0001t0002g0009 a0001c0001t0002g0073 a0001c0001t0002g0092 a0001c0001t0005g0066 a0001c0001t0008g0074	16	360	0.0444	319	c.240 others(338): Show c.240+17385_240+17386insTTTTTTTTTTTTTTTTTTTTTGAGAC GGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCT CACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTT TGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCAGCAATCCACATTTT	TRAPPC3L	ENSG00000173626.10	transcript	ENST00000368602.4	protein_coding	3/4			chr6	TogoVar
TRIM2_chr4_153199443_153344317	153267095	G G	GGAAAAGA others(312): Show GGAAAAGAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0236 a0001c0002t0001g0236	1	268	0.0037	319	c.31- others(334): Show c.31-3226_31-3225insTTTTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTCTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTC ACTGCAGGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTC CCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCGGCTAATTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCGAAAAGAATGTTTT	TRIM2	ENSG00000109654.16	transcript	ENST00000338700.10	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
TRPM3_chr9_70524060_71126621	70917553	A A	ACAGTGTT others(312): Show ACAGTGTTAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTTTTAGCTGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01517.hp1 HG01891.hp2 others(11): Show HG01069.hp1 HG01517.hp1 HG01891.hp2 HG02602.hp1 HG02809.hp2 HG02922.hp1 HG03225.hp1 HG03453.hp1 HG03491.hp1 HG03540.hp2 HG03831.hp1 NA18906.hp1 NA20805.hp1 NA21309.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0002 a0001c0004 others(5): Show a0001c0001 a0001c0002 a0001c0004 a0002c0005 a0002c0044 a0003c0015 a0003c0018 a0004c0025	a0001c0001t0002 a0001c0002t0001 a0001c0002t0007 others(9): Show a0001c0001t0002 a0001c0002t0001 a0001c0002t0007 a0001c0002t0015 a0001c0002t0063 a0001c0004t0007 a0002c0005t0027 a0002c0005t0036 a0002c0044t0008 a0003c0015t0018 a0003c0018t0005 a0004c0025t0049	a0001c0001t0002g0079 a0001c0002t0001g0082 a0001c0002t0001g0101 others(11): Show a0001c0001t0002g0079 a0001c0002t0001g0082 a0001c0002t0001g0101 a0001c0002t0001g0105 a0001c0002t0007g0180 a0001c0002t0015g0200 a0001c0002t0063g0198 a0001c0004t0007g0201 a0002c0005t0027g0103 a0002c0005t0036g0021 a0002c0044t0008g0004 a0003c0015t0018g0081 a0003c0018t0005g0100 a0004c0025t0049g0095	14	214	0.0654	319	c.178 others(338): Show c.178-53043_178-53042insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCCAGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTTAACACTG	TRPM3	ENSG00000083067.26	transcript	ENST00000677713.2	protein_coding	1/25			chr9	TogoVar
TSPAN11_chr12_30921748_31001599	30967795	T T	TGGCCTAG others(312): Show TGGCCTAGAATCTGCTTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCC	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG00738.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0300 a0002c0002t0004g0300	1	394	0.0025	319	c.276 others(336): Show c.276+3799_276+3800insTTTTTTTTTTTTTTTTTTTTTGAGACGG AGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCA CTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCC AAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCTGGCTAATTTTTTGT ATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCAGGATGGTCTCGATC TCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTAC AGGCGTGAGCCACCGCGCCCGGCCTAGAATCTGCTTTCTTT	TSPAN11	ENSG00000110900.16	transcript	ENST00000546076.6	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
TSPAN12_chr7_120782320_120863144	120827122	T T	TAATAGCT others(312): Show TAATAGCTGTCAACGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAACTACAAAAAATAGC CGGGCGTAGTGGCGGGCGCCTGTAGTCCTAGCTACTTGGGAGGCTGAGGC AGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCC CGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02896.hp2 HG02897.hp2 others(1): Show HG02647.hp2 HG02896.hp2 HG02897.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0091 a0001c0001t0001g0092 others(1): Show a0001c0001t0001g0043 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093	4	294	0.0136	319	c.286 others(338): Show c.286-11320_286-11319insTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCT CGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCA GCCTCCCAAGTAGCTAGGACTACAGGCGCCCGCCACTACGCCCGGCTATT TTTTGTAGTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTC TCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCGTTGACAGCTATT	TSPAN12	ENSG00000106025.9	transcript	ENST00000222747.8	protein_coding	4/7			chr7	TogoVar
TSPEAR_chr21_44492893_44716572	44674258	T T	TAAAAAAA others(312): Show TAAAAAAATACAAAGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAAAAAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAA AAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGA GGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAG CCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0094 a0001c0001t0022g0094	1	294	0.0034	319	c.82+ others(336): Show c.82+37174_82+37175insTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTTGTAT TTTTAGTAGAGACGGGGTTTCACCGTTTTTTTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCTCTTTGTATTTTTTT	TSPEAR	ENSG00000175894.18	transcript	ENST00000323084.9	protein_coding	1/11			chr21	TogoVar
TTC13_chr1_230901243_230983861	230949404	T T	TAAAAAAA others(312): Show TAAAAAAAAAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACT TTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCC TGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCC GGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCA GGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGATTGC GCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGTCTC AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG02615.hp2 others(5): Show HG01109.hp2 HG02055.hp1 HG02615.hp2 HG02723.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0002 a0001c0001t0002 a0001c0005t0002	a0001c0001t0002g0168 a0001c0005t0002g0169 a0001c0005t0002g0170 others(5): Show a0001c0001t0002g0168 a0001c0005t0002g0169 a0001c0005t0002g0170 a0001c0005t0002g0180 a0001c0005t0002g0275 a0001c0005t0002g0276 a0001c0005t0002g0277 a0001c0005t0002g0280	8	336	0.0238	319	c.514 others(336): Show c.514-3951_514-3950insTTTTTTTTTTTTTTTTTTTTGAGACGGA GTCTCGCTCTGTCGCCCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTC GGCTCACTGCAAGCTCCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAG CCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCGCGCCCGGCTAATT TTTTGTATTTTTAGTAGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTC TCGATCTCCTGACCTCATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGG GATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTTT	TTC13	ENSG00000143643.13	transcript	ENST00000366661.9	protein_coding	4/22			chr1	TogoVar
TTC17_chr11_43353920_43499931	43441114	C C	CAAAAAAA others(312): Show CAAAAAAAGTAGCCAGGTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCTGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02486.hp2 HG02717.hp2 others(3): Show HG02257.hp1 HG02486.hp2 HG02717.hp2 HG02809.hp2 HG03041.hp1 NA21309.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0001 a0004c0007t0001 a0001c0001t0001 a0004c0007t0001	a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0047 others(3): Show a0001c0001t0001g0026 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0004c0007t0001g0045	6	298	0.0201	319	c.225 others(338): Show c.2252-2193_2252-2192insGGCCGGGCGCGGTGGCTCACGCCTGT AATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGA TCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATAC AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCTGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAGTAGCCAGGTG	TTC17	ENSG00000052841.16	transcript	ENST00000039989.9	protein_coding	16/23		INFO_REALIGN_3_PRIME	chr11	TogoVar
TWIST2_chr2_238843085_238915534	238870184	A A	ACCACACC others(312): Show ACCACACCCCACACACACCACACCCCATACACACCACACCCCACACACAC CACACACCCCACACACACCACACCCCATACACACCACACCCCACACACAC CACACCCCACACACACCACACACCCCACACACACCACACACCCCACACAC ACCACACCCCACACACACCACACACCCCACACACACCACACAAACCACAC ACACCACACACCCCACACACACCACACAAACCACACACACCACACACCCC ACACACACCACACACCCCACACACACCACACACCCCACACACACCACACA AACCACACACACCACACACC	intron_variant intron_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0291 a0001c0001t0002g0291	1	338	0.0030	319	c.35 others(338): Show c.35+21452_*35+21453insCACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACACCCCACACACACCACACCCCAT ACACACCACACCCCACACACACCACACCCCACACACACCACACACCCCAC ACACACCACACACCCCACACACACCACACCCCACACACACCACACACCCC ACACACACCACACAAACCACACACACCACACACCCCACACACACCACACA AACCACACACACCACACACCCCACACACACCACACACCCCACACACACCA CACACCCCACACACACCACACAAACCACACACACCACACACCC	TWIST2	ENSG00000233608.5	transcript	ENST00000612363.2	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr2	TogoVar
TYW1_chr7_66991833_67244514	67016239	G G	GGGGAGTT others(312): Show GGGGAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00609.hp1 HG01169.hp2 others(34): Show HG00558.hp2 HG00609.hp1 HG01169.hp2 HG01978.hp1 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02080.hp2 HG02129.hp2 HG03239.hp2 HG03486.hp2 HG03516.hp1 HG03710.hp2 HG06807.hp2 NA18747.hp1 NA18906.hp2 NA18943.hp1 NA18951.hp1 NA18952.hp1 NA18953.hp1 NA18964.hp2 NA18969.hp2 NA18973.hp1 NA18977.hp1 NA18988.hp1 NA18999.hp2 NA19003.hp1 NA19005.hp1 NA19007.hp2 NA19011.hp1 NA19058.hp2 NA19062.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp1 NA19068.hp2 NA19091.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0002 a0001c0001t0001 a0003c0005t0002	a0001c0001t0001g0089 a0001c0001t0001g0111 a0001c0001t0001g0119 others(34): Show a0001c0001t0001g0089 a0001c0001t0001g0111 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0126 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0001g0169 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0001t0001g0186 a0001c0001t0001g0187 a0001c0001t0001g0188 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0194 a0003c0005t0002g0201 a0003c0005t0002g0202	37	364	0.1017	319	c.571 others(336): Show c.571-1601_571-1600insTTTTTTTTTTTTTTTTTTTTTTTTTGAG ACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCAG CTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCC TCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTT TTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTC GATCTCCTGACCTCATGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGA TTACAGGCGTGAGCCACCGCGCCCGGCCGGGAGTTTTTTTT	TYW1	ENSG00000198874.14	transcript	ENST00000359626.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
UBAP2_chr9_33916693_34053887	34052282	T T	TAAAAATA others(312): Show TAAAAATACAAAAACTAGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACC ATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTAGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCCAGGGGGCGGAGCCTGCAGTGAGCCGAG ATTGCGCCACTGCACTCCAGCCTGGGCGACAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0004 a0002c0001t0004	a0002c0001t0004g0237 a0002c0001t0004g0237	1	356	0.0028	319	c.-35 others(330): Show c.-3500_-3499insTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGCA GGCTCCGCCCCCTGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGT AGCTGGGACTACAGGCGCCCGCTACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCT GACCTTGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCTAGTTTTTGTATTTTT	UBAP2	ENSG00000137073.24	transcript	ENST00000379238.7	protein_coding		3396		chr9	TogoVar
UBR4_chr1_19069510_19215266	19159895	G G	GCCAATTC others(312): Show GCCAATTCTCTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0026 a0026	a0026c0034 a0026c0034	a0026c0034t0001 a0026c0034t0001	a0026c0034t0001g0166 a0026c0034t0001g0166	1	326	0.0031	319	c.557 others(336): Show c.5577+215_5577+216insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAGCACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGAGAATTGG	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	39/105			chr1	TogoVar
UBR4_chr1_19069510_19215266	19159895	G G	GCCAATTC others(312): Show GCCAATTCTCTTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTC GCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAA GCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAG CTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGCTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG02071.hp1 HG02132.hp1 others(14): Show HG01168.hp2 HG02071.hp1 HG02132.hp1 HG04204.hp2 NA18940.hp2 NA18943.hp2 NA18944.hp1 NA18948.hp1 NA18974.hp1 NA18981.hp2 NA18982.hp2 NA18991.hp2 NA19007.hp2 NA19011.hp1 NA19054.hp1 NA19066.hp1 NA19080.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0156 a0001c0005t0001g0167 a0001c0005t0001g0168 others(14): Show a0001c0005t0001g0156 a0001c0005t0001g0167 a0001c0005t0001g0168 a0001c0005t0001g0169 a0001c0005t0001g0170 a0001c0005t0001g0171 a0001c0005t0001g0172 a0001c0005t0001g0173 a0001c0005t0001g0174 a0001c0005t0001g0175 a0001c0005t0001g0176 a0001c0005t0001g0177 a0001c0005t0001g0178 a0001c0005t0001g0179 a0001c0005t0001g0180 a0001c0005t0001g0181 a0001c0005t0001g0182	17	326	0.0522	319	c.557 others(336): Show c.5577+215_5577+216insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAGCACGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTG AGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAGAGAATTGG	UBR4	ENSG00000127481.15	transcript	ENST00000375254.8	protein_coding	39/105			chr1	TogoVar
UNC13C_chr15_53973441_54633605	53994188	T T	TAAGAATA others(312): Show TAAGAATATCAAATTTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01884.hp1 HG02109.hp1 others(13): Show HG01109.hp2 HG01884.hp1 HG02109.hp1 HG02258.hp1 HG02486.hp1 HG02630.hp2 HG02809.hp2 HG02886.hp1 HG02970.hp2 HG03041.hp1 HG03471.hp1 HG03540.hp1 HG03579.hp1 NA18906.hp2 NA19030.hp1 NA19030.hp2	a0001 a0013 a0001 a0013	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0014 a0001c0020 a0013c0030	a0001c0001t0002 a0001c0001t0014 a0001c0001t0018 others(11): Show a0001c0001t0002 a0001c0001t0014 a0001c0001t0018 a0001c0001t0036 a0001c0001t0056 a0001c0002t0001 a0001c0002t0002 a0001c0002t0008 a0001c0002t0022 a0001c0003t0002 a0001c0014t0002 a0001c0020t0001 a0001c0020t0008 a0013c0030t0014	a0001c0001t0002g0144 a0001c0001t0014g0084 a0001c0001t0018g0033 others(13): Show a0001c0001t0002g0144 a0001c0001t0014g0084 a0001c0001t0018g0033 a0001c0001t0036g0089 a0001c0001t0056g0015 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0034 a0001c0002t0002g0082 a0001c0002t0008g0081 a0001c0002t0022g0086 a0001c0003t0002g0088 a0001c0014t0002g0087 a0001c0020t0001g0043 a0001c0020t0008g0085 a0013c0030t0014g0083	16	158	0.1013	319	c.-25 others(340): Show c.-257+15277_-257+15278insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTT GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAG TGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGAATATCAAATTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	1/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC80_chr2_209766832_210004296	209903554	T T	TATATATA others(312): Show TATATATACTATATATATTATATATAGTATATATGTAATATATATACTAT ATATATTATATATAGTATATATGTAATATATATACTATATATATTATATA TAGTATATATGTAATATATATACTATATATATTATATATAGTATATATGT AATATATATACTATATATAGTATATATGTAATATATATACTATATATAGT ATATATGTAATATATATATACTATATATAGTATATATGTAATATATATAC TATATATAGTATATATGTAATATATATATAGTATATATGTAATATATATA CTATATATAGTACATATGTA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03486.hp2 HG02258.hp2 HG03486.hp2	a0003 a0003	a0003c0019 a0003c0020 a0003c0019 a0003c0020	a0003c0019t0001 a0003c0020t0006 a0003c0019t0001 a0003c0020t0006	a0003c0019t0001g0092 a0003c0020t0006g0093 a0003c0019t0001g0092 a0003c0020t0006g0093	2	188	0.0106	319	c.458 others(338): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATATTATATATAGTATATATGTAATATATATA CTATATATATTATATATAGTATATATGTAATATATATACTATATATATTA TATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATAT ATATACTATATATAGTATATATGTAATATATATATACTATATATAGTATA TATGTAATATATATACTATATATAGTATATATGTAATATATATATAGTAT ATATGTAATATATATACTATATATAGTACATATGTAATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
UNC80_chr2_209766832_210004296	209903554	T T	TATATATA others(312): Show TATATATACTATATATATTATATATAGTATATATGTAATATATATACTAT ATATATTATATATAGTATATATGTAATATATATACTATATATATTATATA TAGTATATATGTAATATATATACTATATATATTATATATAGTATATATGT AATATATATACTATATATAGTATATATGTAATATATATACTATATATAGT ATATATGTAATATATATATACTATATATAGTATATATGTAATATATATAC TATATATAGTATATATGTAATATATATATAGTATATATGTAATATATATA CTATATATAGTATATATGTA	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0052 a0001c0002t0011g0052	1	188	0.0053	319	c.458 others(338): Show c.4582-1204_4582-1203insCTATATATATTATATATAGTATATAT GTAATATATATACTATATATATTATATATAGTATATATGTAATATATATA CTATATATATTATATATAGTATATATGTAATATATATACTATATATATTA TATATAGTATATATGTAATATATATACTATATATAGTATATATGTAATAT ATATACTATATATAGTATATATGTAATATATATATACTATATATAGTATA TATGTAATATATATACTATATATAGTATATATGTAATATATATATAGTAT ATATGTAATATATATACTATATATAGTATATATGTAATATATA	UNC80	ENSG00000144406.19	transcript	ENST00000673920.1	protein_coding	28/64		INFO_REALIGN_3_PRIME	chr2	TogoVar
VASH2_chr1_212945541_212996585	212963563	C C	CAAGAGTA others(312): Show CAAGAGTACTGGTGTTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGA TCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG04199.hp2 others(1): Show HG01070.hp2 HG01071.hp1 HG04199.hp2 HG04228.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0030 a0002c0002t0005 a0002c0002t0030	a0002c0002t0005g0246 a0002c0002t0005g0252 a0002c0002t0030g0041 a0002c0002t0005g0246 a0002c0002t0005g0252 a0002c0002t0030g0041	4	378	0.0106	319	c.366 others(336): Show c.366-2143_366-2142insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGGTCAGGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGC CGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTC TCAAAAAAAAAAAAAAAAAAAAAAAAAGAGTACTGGTGTTG	VASH2	ENSG00000143494.16	transcript	ENST00000517399.3	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
VCX2_chrX_8164944_8176267	8169657	T T	TCCTCCCT others(312): Show TCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCCCCA CACACCTCCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTC CCTCCCTCCCCACACACCACCTCTCCCTCCCTCCCTCCCTCCCCACACAC CACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACCTCTTCCTCCCTCC CTCCCTCCCCACACACCTCTTCCTCCCTCCCTCCCTCCCCACACACCACC TCTTCCTCCCTCCCTCCCTCCCCACACACCTCCTCTTCCTCCCTCCCTCC CCACACACCTCCTCTTCCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0024 a0024	a0024c0025 a0024c0025	a0024c0025t0015 a0024c0025t0015	a0024c0025t0015g0044 a0024c0025t0015g0044	1	115	0.0087	319	c.37 others(328): Show c.374_*375insGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGGAAG AGGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGT GGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAG GGAGGGAGGGAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGAGGTGTGTGGGGAGGGAGGGAGG AAGAGGAGGTGTGTGGGGAGGGAGGGAGGGAGG	VCX2	ENSG00000177504.10	transcript	ENST00000317103.5	protein_coding		286		chrX	TogoVar
VCX_chrX_7838171_7849143	7844180	A A	AGGGAGGG others(312): Show AGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGGAGGGAGGGAGGAA GAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTCTGTGGGGAGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGA GGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18951.hp1 NA18951.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0001 a0003c0003t0002g0001	1	341	0.0029	319	c.16 others(328): Show c.164_*165insGGGAGGGAGGGAGGAAGAGGTGGTGTGAGGGGAGGG AGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTG TGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAG GTCTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		38		chrX	TogoVar
VCX_chrX_7838171_7849143	7844275	A A	AGGGAGGG others(312): Show AGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTG TGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGA AGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGG GAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGG TGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGG AAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGG GAGGGAGGAAGAGGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0032 a0032	a0032c0029 a0032c0029	a0032c0029t0006 a0032c0029t0006	a0032c0029t0006g0004 a0032c0029t0006g0004	1	341	0.0029	319	c.25 others(328): Show c.259_*260insGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGG AGGAAGAGGTGTGTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGG GAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGT GTGGGGAGGGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGG GAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTGGGGAG GGAGGGAGGGAGGAAGAGGTGGTGTGTGGGGAGGGAGGGAGGAAGAGGTG GTGTGTGGGGAGGGAGGGAGGAAGAGGTGTGTG	VCX	ENSG00000182583.13	transcript	ENST00000688183.1	protein_coding		133		chrX	TogoVar
VPS26A_chr10_69119178_69179412	69121313	A A	AAAAAGTG others(312): Show AAAAAGTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTC TCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGC AAGCTCCGCCTCCCGGGTTCACGCCACTCTCCTGCCTCAGCCTCCCAAGT AGCTGGGACCACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCT GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02630.hp2 HG02970.hp2 HG03486.hp1 HG02630.hp2 HG02970.hp2 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0025 a0001c0002t0008g0029 a0001c0002t0008g0031 a0001c0002t0008g0025 a0001c0002t0008g0029 a0001c0002t0008g0031	3	336	0.0089	319	c.-29 others(330): Show c.-2965_-2964insAAAAGTGTTTCTTTTTTTTTTTTTTTTTTTTTTT TTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCA ATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCACTCTCCTGC CTCAGCCTCCCAAGTAGCTGGGACCACAGGCGCCCGCCACCACGCCCGGC TAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGA TGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGT GCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC	VPS26A	ENSG00000122958.15	transcript	ENST00000263559.11	protein_coding		2864		chr10	TogoVar
WAC_chr10_28528118_28628112	28554577	G G	GCCATGAT others(312): Show GCCATGATTGTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGCCTCCCAAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0234 a0001c0001t0039g0234	1	322	0.0031	319	c.274 others(338): Show c.274+18835_274+18836insTTTTTTTTTTTTTTTTTTTTTTTTGA GACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCG GCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCCGCCTCAGC CTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTT TTTGTATTTTTAGTAGAGACGGGGTTTCACCATTTTAGCCGGGATGGTCT CGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGG ATTACAGGCGTGAGCCACCGCGCCCGGCCCATGATTGTTTCTT	WAC	ENSG00000095787.26	transcript	ENST00000354911.9	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
WDR17_chr4_176060841_176187815	176129847	T T	TGCTGGCT others(312): Show TGCTGGCTTACTGTTTTGTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCT CGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCA AGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTA GCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTTGTATTT TTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGATCTCCC GACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGC GTGAGCCACCGCGCCCGGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02698.hp2 HG02145.hp1 HG02698.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0349 a0001c0001t0024g0350 a0001c0001t0024g0349 a0001c0001t0024g0350	2	356	0.0056	319	c.913 others(336): Show c.913+1002_913+1003insTGTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGCCTCGA TCTCCCGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCGCTGGCTTACTGTTT	WDR17	ENSG00000150627.16	transcript	ENST00000508596.6	protein_coding	6/28		INFO_REALIGN_3_PRIME	chr4	TogoVar
WDR70_chr5_37374318_37758435	37648555	T T	TAGAAGTC others(312): Show TAGAAGTCACTGTAAAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACC ATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATT AGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGA GGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGA TTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02258.hp1 others(12): Show HG01109.hp1 HG01243.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02630.hp2 HG02647.hp2 HG02717.hp1 HG02809.hp2 HG02896.hp2 HG02965.hp1 HG03098.hp1 HG03195.hp1 HG03486.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(2): Show a0001c0001 a0001c0002 a0001c0004 a0001c0007 a0002c0008	a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0004t0001 a0001c0007t0001 a0002c0008t0001	a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0002t0001g0023 others(12): Show a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0002t0001g0023 a0001c0002t0001g0067 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0071 a0001c0002t0001g0072 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0084 a0001c0004t0001g0064 a0001c0004t0001g0065 a0001c0007t0001g0068 a0002c0008t0001g0066	15	242	0.0620	319	c.109 others(340): Show c.1092+43332_1092+43333insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGA GATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAAT ACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTC GGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAG TGAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAG CGAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAAGTCACTGTAAA	WDR70	ENSG00000082068.9	transcript	ENST00000265107.9	protein_coding	10/17		INFO_REALIGN_3_PRIME	chr5	TogoVar
XDH_chr2_31329321_31419742	31336814	T T	TAAAAAGA others(312): Show TAAAAAGAGGAAGCCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCATCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0007 a0001c0006t0007	a0001c0006t0007g0351 a0001c0006t0007g0351	1	370	0.0027	319	c.395 others(336): Show c.3952-807_3952-806insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGATGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCGGGGCTTCCTCTTTTT	XDH	ENSG00000158125.10	transcript	ENST00000379416.4	protein_coding	35/35			chr2	TogoVar
XDH_chr2_31329321_31419742	31336814	T T	TAAAAAGA others(312): Show TAAAAAGAGGAAGCCCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01109.hp2 HG02451.hp1 others(5): Show HG01069.hp2 HG01109.hp2 HG02451.hp1 HG03041.hp2 HG03139.hp1 NA19002.hp1 NA19070.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0032 others(1): Show a0001c0001 a0001c0002 a0001c0032 a0002c0004	a0001c0001t0002 a0001c0001t0004 a0001c0002t0004 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0004 a0001c0032t0004 a0002c0004t0002	a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0103 others(5): Show a0001c0001t0002g0067 a0001c0001t0002g0071 a0001c0001t0002g0103 a0001c0001t0004g0097 a0001c0001t0004g0251 a0001c0002t0004g0278 a0001c0032t0004g0106 a0002c0004t0002g0215	8	370	0.0216	319	c.395 others(336): Show c.3952-807_3952-806insTTTTTTTTTTTTTTTTTTTTTTGAGACG GAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTC ACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCC CAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTG TATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGAT CTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTA CAGGCGTGAGCCACCGCGCCCGGCCGGGGCTTCCTCTTTTT	XDH	ENSG00000158125.10	transcript	ENST00000379416.4	protein_coding	35/35			chr2	TogoVar
XYLT1_chr16_17096769_17475960	17446864	G G	GCCAAGGC others(312): Show GCCAAGGCCATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGT CTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTG CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAG TAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02258.hp1 HG06807.hp1 HG02055.hp1 HG02258.hp1 HG06807.hp1	a0001 a0007 a0001 a0007	a0001c0007 a0001c0008 a0007c0009 a0001c0007 a0001c0008 a0007c0009	a0001c0007t0004 a0001c0008t0052 a0007c0009t0014 a0001c0007t0004 a0001c0008t0052 a0007c0009t0014	a0001c0007t0004g0060 a0001c0008t0052g0062 a0007c0009t0014g0061 a0001c0007t0004g0060 a0001c0008t0052g0062 a0007c0009t0014g0061	3	156	0.0192	319	c.363 others(338): Show c.363+23569_363+23570insGCCGGGCGCGGTGGCTCACGCCTGTA ATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGAT CGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACA AAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGA GCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCG TCTCAAAAAAAAAAAAAAAAAAAAAAAAAGAAAATGGCCTTGG	XYLT1	ENSG00000103489.12	transcript	ENST00000261381.7	protein_coding	1/11			chr16	TogoVar
ZFYVE19_chr15_40802089_40820084	40808120	G G	GCAAAGCT others(312): Show GCAAAGCTACTCTTTAATTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAG TTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGACTCACT GCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGT GTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTTGTATT TTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCC TGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGG CGTGAGCCACCGCGCCCGGC	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18973.hp2 NA18998.hp1 others(1): Show NA18953.hp2 NA18973.hp2 NA18998.hp1 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0005 a0002c0002t0003 a0002c0002t0005	a0002c0002t0003g0021 a0002c0002t0003g0037 a0002c0002t0005g0036 a0002c0002t0003g0021 a0002c0002t0003g0037 a0002c0002t0005g0036	4	382	0.0105	319	c.279 others(334): Show c.279+266_279+267insAATTTTTTTTTTTTTTTTTTTTTTTTGAGA CGGAGTTTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCAATCTCGAC TCACTGCAAGCTCCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCT CCTGTGTAGCTGGGACTACAGGCACGCGCCACCATGCCCGGCTAATTTTT GTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGA TCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATT ACAGGCGTGAGCCACCGCGCCCGGCCAAAGCTACTCTTT	ZFYVE19	ENSG00000166140.17	transcript	ENST00000355341.8	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
ZMYM5_chr13_19818482_19868649	19832900	T T	TAAAAAAA others(312): Show TAAAAAAATTGTTTTGACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGG CGGGCGGATCACGAGGTCAGGAGATCGAGACCACCCCGGCTAAAATGGTG AAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGG GCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGA ACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCCCGCCACTGCACTCCA GCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0260 a0003c0003t0003g0260	1	296	0.0034	319	c.125 others(338): Show c.1251+2576_1251+2577insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGT GCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGC CATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCA CTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCAT TTTAGCCGGGGTGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGG CCTCCCAAAGTGCTGGGATTACAGGCGTCAAAACAATTTTTTT	ZMYM5	ENSG00000132950.19	transcript	ENST00000337963.9	protein_coding	7/7			chr13	TogoVar
ZNF18_chr17_11972439_12002475	11988784	T T	TATACAGC others(312): Show TATACAGCACCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCAAGACCATCCT GGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCG GGCGTGGTGGTGGGCGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAG GAGAATGGCATGAACCCAAGAGGCGGAGCTTGCAGTGAGCCGGGATAGCG CCACTGCAGTCCAGCTTGGGCGAAAGAGTGAGACTCCGTCTCAAAAAAAA AAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03471.hp2 NA19030.hp2 others(1): Show HG03139.hp2 HG03471.hp2 NA19030.hp2 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0068 a0002c0002t0002g0154 a0002c0002t0002g0029 a0002c0002t0002g0068 a0002c0002t0002g0154	4	396	0.0101	319	c.666 others(336): Show c.666+1677_666+1678insTTTTTTTTTTTTTTTTTTTTTTTTTTTT GAGACGGAGTCTCACTCTTTCGCCCAAGCTGGACTGCAGTGGCGCTATCC CGGCTCACTGCAAGCTCCGCCTCTTGGGTTCATGCCATTCTCCTGCCTCA GCCTCCCGAGTAGCTGGGATTACAGGCGCCCACCACCACGCCCGGCTAAT TTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGT CTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTG GGATTACAGGCGTGAGCCACCGCGCCCGGCCGGTGCTGTAT	ZNF18	ENSG00000154957.14	transcript	ENST00000580306.7	protein_coding	4/6			chr17	TogoVar

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