Joint Open Genome and Omics Platform (JoGo)

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Snpeff annotation impact detail

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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
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(346): Show TGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCC CCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCATCCC GTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACAACCCCTCA TCCCGTCCCCTACTGCCACATCCCACCACCACGTCCACACTGCCACGTCC CCTCGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCA CAACCCCTCATCCCGTCCCCTACTGCCACATCCCACCACCACGTCCACAC TGCCATGTCCCCTCGCCCCATCCCCCTGCCACGTCCGCTTACCCCATACC CACC	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG00544.hp1 others(3): Show HG00408.hp1 HG00438.hp1 HG00544.hp1 HG01123.hp2 NA18942.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0040 others(3): Show a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0040 a0002c0002t0001g0048 a0002c0002t0001g0050 a0002c0002t0001g0054	6	264	0.0227	353	c.180 others(372): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGATGAGG GGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGTGGACGTGG TGGTGGGATGTGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGACGGGATGAGGGGACGTGGCAGTG GGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGC AGTGGGGACGGGGCGAGGGGACGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(346): Show TGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCC CCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCC GTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACAACCCCTCA TCCCGTCCCCTACTGCCACATCCCACCACCACGTCCACACTGCCACGTCC CCTCGCCCCATCCCCCACTGCCACGTCCCCTCATCCCGTCCCCACTGCCA CAACCCCTCATCCCGTCCCCTACTGCCACATCCCACCACCACGTCCACAC TGCCATGTCCCCTCGCCCCATCCCCCTGCCACGTCCGCTTACCCCATACC CACC	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA19064.hp2 HG02155.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0046 a0002c0002t0001g0047	2	264	0.0076	353	c.180 others(372): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGACGGGATGAGG GGACGTGGCAGTGGGGGATGGGGCGAGGGGACGTGGCAGTGTGGACGTGG TGGTGGGATGTGGCAGTAGGGGACGGGATGAGGGGTTGTGGCAGTGGGGA CGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTG GGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGC AGTGGGGACGGGGCGAGGGGACGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(346): Show TGCCACGTCCCCTCGCCCCGTCCCCTACTGCCACGTCCCACCACCACGTC CACACTGCCATGTCCCCTCGCCCCATCCCCCACTGCCACGTCCCCTCACC CCGTCCCCACTGCCACGTCCCCTCACCCCGTCCCCACTGCCACGTCCCCT CGCCCCGTCCACACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTC CCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCCACTGCC ACGTCCCCTCATCCCGTCCCCACTGCCACATCCCACCACCACGTCCACAC TGCCATGTCCCCTCGCCCCATCCCCCTGCCACGTCCGCTTACCCCATACC CACC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01361.hp1 HG01981.hp2 others(8): Show HG01109.hp1 HG01361.hp1 HG01981.hp2 HG02258.hp2 HG02647.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 NA18612.hp2 NA18948.hp1 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0001 a0001c0001t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0001g0124 a0001c0001t0001g0138 a0001c0001t0001g0143 others(8): Show a0001c0001t0001g0124 a0001c0001t0001g0138 a0001c0001t0001g0143 a0001c0001t0001g0168 a0001c0001t0001g0183 a0001c0001t0001g0214 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0242 a0001c0001t0002g0087 a0001c0003t0001g0029	11	264	0.0417	353	c.180 others(372): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTGGGGACGGGATGAGGGGACGTGGCAGTGGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGC GAGGGGACGTGGCAGTGTGGACGGGGCGAGGGGACGTGGCAGTGGGGACG GGGTGAGGGGACGTGGCAGTGGGGACGGGGTGAGGGGACGTGGCAGTGGG GGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGACGTGGCA GTAGGGGACGGGGCGAGGGGACGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAD1L1_chr7_1810795_2237945	1930522	T T	TGCCACGT others(346): Show TGCCACGTCCCCTCGCCCCGTCCCCTACTGCCACGTCCCACCACCACGTC CACACTGCCATGTCCCCTCGCCCCATCCCCCACTGCTACGTCCCCTCACC CCGTCCCCACTGCCACGTCCCCTCACCCCGTCCCCACTGCCACGTCCCCT CGCCCCGTCCACACTGCCACGTCCCCTCGCCCCGTCCCCACTGCCACGTC CCCTCGCCCCGTCCCCACTGCCACGTCCCCTCGCCCCGTCCCCCACTGCC ACGTCCCCTCATCCCGTCCCCACTGCCACATCCCACCACCACGTCCACAC TGCCATGTCCCCTCGCCCCATCCCCCTGCCACGTCCGCTTACCCCATACC CACC	intron_variant intron_variant	MODIFIER	NA18999.hp1 NA18999.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0182 a0001c0001t0001g0182	1	264	0.0038	353	c.180 others(372): Show c.1807+6164_1807+6165insGGTGGGTATGGGGTAAGCGGACGTGG CAGGGGGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGATG TGGCAGTGGGGACGGGATGAGGGGACGTGGCAGTGGGGGACGGGGCGAGG GGACGTGGCAGTGGGGACGGGGCGAGGGGACGTGGCAGTGGGGACGGGGC GAGGGGACGTGGCAGTGTGGACGGGGCGAGGGGACGTGGCAGTGGGGACG GGGTGAGGGGACGTGGCAGTGGGGACGGGGTGAGGGGACGTAGCAGTGGG GGATGGGGCGAGGGGACATGGCAGTGTGGACGTGGTGGTGGGACGTGGCA GTAGGGGACGGGGCGAGGGGACGTGGC	MAD1L1	ENSG00000002822.16	transcript	ENST00000265854.12	protein_coding	17/18			chr7	TogoVar
MAP1B_chr5_72102475_72214565	72117121	T T	TGAAAAAT others(346): Show TGAAAAATCAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00609.hp2 HG00558.hp1 HG00609.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0001 a0001c0004t0015 a0001c0002t0001 a0001c0004t0015	a0001c0002t0001g0305 a0001c0004t0015g0304 a0001c0002t0001g0305 a0001c0004t0015g0304	2	342	0.0059	353	c.286 others(370): Show c.286+1337_286+1338insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGG CCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCT TCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACT ACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGA CGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGA TCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACC GCGCCCGGCCGAAAAATCAGTTTTT	MAP1B	ENSG00000131711.15	transcript	ENST00000296755.12	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr5	TogoVar
MAP3K15_chrX_19355059_19520508	19478085	A A	AGCGGGAG others(346): Show AGCGGGAGAGAGGGGGAGGGGGAGAGAGGGGGGAGGGGGAGAGAGGGGGG AGGGGAGAGAGGGGGGAGGGGGGGAGAGGGGGAGGGGGGAGGGGAGAGAG GGGGGAGGGGGGAGAGGGGGGAGGGGGGACAGGGGGGAGGGGGGAGAGGG GGGAGGGGGGAGAGGGGGGAGGGGGAGAGGGGGGAGGGGGAGAGGGGGGA GGGGGAGAGGGGGGAGGGGAGAGGGGGAGGGGAGAGGGGGGAGGGGGGAG GGGGGAGGGGGGAGGGGGGAGAGGGGGGAGGGGGGAGGGGGGGAGGGGGG AGGGGGGAGAGGGGGGAGAGAGGGGAGAGAGGGGGAGAGAGAGGGAGAGA GAGG	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0103	1	163	0.0061	353	c.525 others(370): Show c.525+8396_525+8397insCCTCTCTCTCCCTCTCTCTCCCCCTCTC TCCCCTCTCTCCCCCCTCTCCCCCCTCCCCCCTCCCCCCCTCCCCCCTCC CCCCTCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCCCCCCTCTCCCCTC CCCCTCTCCCCTCCCCCCTCTCCCCCTCCCCCCTCTCCCCCTCCCCCCTC TCCCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCCCCCCTCCCCCCTGTCC CCCCTCCCCCCTCTCCCCCCTCCCCCCTCTCTCCCCTCCCCCCTCCCCCT CTCCCCCCCTCCCCCCTCTCTCCCCTCCCCCCTCTCTCCCCCTCCCCCCT CTCTCCCCCTCCCCCTCTCTCCCGC	MAP3K15	ENSG00000180815.15	transcript	ENST00000338883.9	protein_coding	3/28			chrX	TogoVar
MAP3K21_chr1_233322724_233390148	233383384	T T	TAAAAGCT others(346): Show TAAAAGCTTTACTGAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp1 HG02559.hp2 HG01361.hp1 HG02559.hp2	a0002 a0012 a0002 a0012	a0002c0002 a0012c0027 a0002c0002 a0012c0027	a0002c0002t0035 a0012c0027t0041 a0002c0002t0035 a0012c0027t0041	a0002c0002t0035g0069 a0012c0027t0041g0207 a0002c0002t0035g0069 a0012c0027t0041g0207	2	372	0.0054	353	c.68 others(362): Show c.687_*688insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAG CCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGG CAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATC CCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCTTCTCAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAGCTTTACTGA	MAP3K21	ENSG00000143674.11	transcript	ENST00000366624.8	protein_coding	10/10	688	INFO_REALIGN_3_PRIME	chr1	TogoVar
MAST3_chr19_18092778_18156687	18116838	A A	AGGAGGCG others(346): Show AGGAGGCGGGGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCGCCAC ACTTGGCCTCGCCCAGGCTGGTTTTTGTTTGTTTGTTTGTTTGTTTGTTT TGTGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTC AGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTGG TTTTAAACCAAGGCTGGGAAAAGCCGGATGGAGGTTGGGTGTAGTGGCTC ACGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAA CCCG	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0208 a0002c0001t0001g0208	1	296	0.0034	353	c.162 others(370): Show c.162-4839_162-4838insGGGTTGCAGTGAGCCGAGATGGTGCCAC TGCACTCCGCCACACTTGGCCTCGCCCAGGCTGGTTTTTGTTTGTTTGTT TGTTTGTTTGTTTTGTGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCC ATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTGGTTTTAAACCAAGGCTGGGAAAAGCCGGATGGAGGTTG GGTGTAGTGGCTCACGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGG AGAATCGCTTGAACCCGGGAGGCGG	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST3_chr19_18092778_18156687	18116838	A A	AGGAGGCG others(346): Show AGGAGGCGGGGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCGCCAC ACTTGGCCTCGCCCAGGCTGGTTTTTGTTTGTTTGTTTGTTTGTTTGTTT TGTGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTC AGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTGG TTTTAAACCAAGGCTGGGAAAAGCCGGATGGAGGTTGGGTGTGGTGGCTC ACGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAA CCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp1 others(278): Show HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp2 HG03669.hp1 HG03669.hp2 HG03688.hp1 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp1 NA18942.hp2 NA18945.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18954.hp1 NA18954.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18966.hp1 NA18966.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18980.hp1 NA18980.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18986.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18997.hp1 NA18997.hp2 NA18998.hp1 NA18998.hp2 NA19010.hp1 NA19010.hp2 NA19012.hp1 NA19012.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19081.hp1 NA19081.hp2 NA19083.hp2 NA19084.hp1 NA19084.hp2 NA19090.hp1 NA19090.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0000 a0001 a0002 others(7): Show a0000 a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009	a0000c0024 a0001c0002 a0001c0003 others(24): Show a0000c0024 a0001c0002 a0001c0003 a0001c0005 a0001c0006 a0001c0007 a0001c0008 a0001c0011 a0001c0013 a0001c0015 a0001c0016 a0001c0017 a0001c0018 a0001c0019 a0001c0020 a0002c0001 a0002c0010 a0002c0025 a0002c0027 a0003c0004 a0003c0009 a0004c0012 a0005c0022 a0006c0014 a0007c0021 a0008c0023 a0009c0026	a0000c0024t0001 a0001c0002t0001 a0001c0002t0002 others(44): Show a0000c0024t0001 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0014 a0001c0002t0018 a0001c0002t0019 a0001c0002t0020 a0001c0003t0002 a0001c0003t0006 a0001c0003t0007 a0001c0003t0017 a0001c0005t0006 a0001c0006t0005 a0001c0006t0009 a0001c0007t0010 a0001c0007t0011 a0001c0008t0004 a0001c0011t0005 a0001c0013t0003 a0001c0015t0003 a0001c0016t0001 a0001c0017t0022 a0001c0018t0001 a0001c0019t0004 a0001c0020t0004 a0002c0001t0001 a0002c0001t0008 a0002c0001t0012 a0002c0001t0013 a0002c0001t0015 a0002c0001t0021 a0002c0010t0001 a0002c0025t0001 a0002c0027t0001 a0003c0004t0001 a0003c0004t0005 a0003c0004t0012 a0003c0004t0023 a0003c0009t0004 a0004c0012t0002 a0005c0022t0001 a0006c0014t0002 a0007c0021t0004 a0008c0023t0001 a0009c0026t0001	a0000c0024t0001g0016 a0001c0002t0001g0059 a0001c0002t0001g0088 others(275): Show a0000c0024t0001g0016 a0001c0002t0001g0059 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0107 a0001c0002t0001g0110 a0001c0002t0001g0111 a0001c0002t0001g0130 a0001c0002t0002g0005 a0001c0002t0002g0007 a0001c0002t0002g0008 a0001c0002t0002g0018 a0001c0002t0002g0023 a0001c0002t0002g0026 a0001c0002t0002g0027 a0001c0002t0002g0029 a0001c0002t0002g0030 a0001c0002t0002g0033 a0001c0002t0002g0034 a0001c0002t0002g0035 a0001c0002t0002g0036 a0001c0002t0002g0038 a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0041 a0001c0002t0002g0042 a0001c0002t0002g0043 a0001c0002t0002g0044 a0001c0002t0002g0045 a0001c0002t0002g0046 a0001c0002t0002g0047 a0001c0002t0002g0048 a0001c0002t0002g0049 a0001c0002t0002g0050 a0001c0002t0002g0051 a0001c0002t0002g0052 a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 a0001c0002t0002g0056 a0001c0002t0002g0057 a0001c0002t0002g0061 a0001c0002t0002g0071 a0001c0002t0002g0115 a0001c0002t0002g0116 a0001c0002t0002g0117 a0001c0002t0002g0118 a0001c0002t0002g0119 a0001c0002t0002g0120 a0001c0002t0002g0121 a0001c0002t0002g0122 a0001c0002t0002g0123 a0001c0002t0002g0229 a0001c0002t0003g0002 a0001c0002t0003g0010 a0001c0002t0003g0069 a0001c0002t0003g0085 a0001c0002t0003g0086 a0001c0002t0003g0090 a0001c0002t0003g0091 a0001c0002t0003g0093 a0001c0002t0003g0095 a0001c0002t0003g0097 a0001c0002t0003g0098 a0001c0002t0003g0099 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0127 a0001c0002t0003g0131 a0001c0002t0003g0132 a0001c0002t0004g0037 a0001c0002t0004g0063 a0001c0002t0004g0146 a0001c0002t0004g0147 a0001c0002t0004g0152 a0001c0002t0004g0238 a0001c0002t0004g0239 a0001c0002t0004g0241 a0001c0002t0004g0242 a0001c0002t0004g0243 a0001c0002t0004g0244 a0001c0002t0004g0254 a0001c0002t0004g0255 a0001c0002t0004g0256 a0001c0002t0004g0257 a0001c0002t0014g0268 a0001c0002t0018g0240 a0001c0002t0019g0002 a0001c0002t0020g0011 a0001c0003t0002g0003 a0001c0003t0002g0162 a0001c0003t0002g0163 a0001c0003t0002g0176 a0001c0003t0002g0246 a0001c0003t0002g0248 a0001c0003t0006g0291 a0001c0003t0007g0006 a0001c0003t0007g0153 a0001c0003t0007g0156 a0001c0003t0007g0166 a0001c0003t0007g0253 a0001c0003t0017g0245 a0001c0005t0006g0214 a0001c0006t0005g0070 a0001c0006t0005g0080 a0001c0006t0005g0081 a0001c0006t0005g0082 a0001c0006t0009g0292 a0001c0007t0010g0284 a0001c0007t0010g0285 a0001c0007t0010g0289 a0001c0007t0011g0283 a0001c0007t0011g0286 a0001c0007t0011g0287 a0001c0008t0004g0164 a0001c0008t0004g0165 a0001c0008t0004g0173 a0001c0008t0004g0249 a0001c0008t0004g0250 a0001c0011t0005g0125 a0001c0011t0005g0126 a0001c0013t0003g0084 a0001c0015t0003g0092 a0001c0016t0001g0133 a0001c0017t0022g0062 a0001c0018t0001g0155 a0001c0019t0004g0017 a0001c0020t0004g0143 a0002c0001t0001g0004 a0002c0001t0001g0058 a0002c0001t0001g0060 a0002c0001t0001g0064 a0002c0001t0001g0074 a0002c0001t0001g0075 a0002c0001t0001g0076 a0002c0001t0001g0077 a0002c0001t0001g0079 a0002c0001t0001g0083 a0002c0001t0001g0087 a0002c0001t0001g0128 a0002c0001t0001g0129 a0002c0001t0001g0134 a0002c0001t0001g0145 a0002c0001t0001g0149 a0002c0001t0001g0150 a0002c0001t0001g0151 a0002c0001t0001g0154 a0002c0001t0001g0157 a0002c0001t0001g0158 a0002c0001t0001g0159 a0002c0001t0001g0161 a0002c0001t0001g0167 a0002c0001t0001g0168 a0002c0001t0001g0169 a0002c0001t0001g0170 a0002c0001t0001g0171 a0002c0001t0001g0174 a0002c0001t0001g0175 a0002c0001t0001g0177 a0002c0001t0001g0178 a0002c0001t0001g0179 a0002c0001t0001g0180 a0002c0001t0001g0181 a0002c0001t0001g0182 a0002c0001t0001g0183 a0002c0001t0001g0184 a0002c0001t0001g0185 a0002c0001t0001g0186 a0002c0001t0001g0187 a0002c0001t0001g0188 a0002c0001t0001g0189 a0002c0001t0001g0191 a0002c0001t0001g0192 a0002c0001t0001g0193 a0002c0001t0001g0194 a0002c0001t0001g0195 a0002c0001t0001g0196 a0002c0001t0001g0197 a0002c0001t0001g0198 a0002c0001t0001g0199 a0002c0001t0001g0200 a0002c0001t0001g0202 a0002c0001t0001g0203 a0002c0001t0001g0204 a0002c0001t0001g0205 a0002c0001t0001g0206 a0002c0001t0001g0207 a0002c0001t0001g0209 a0002c0001t0001g0210 a0002c0001t0001g0211 a0002c0001t0001g0213 a0002c0001t0001g0215 a0002c0001t0001g0216 a0002c0001t0001g0217 a0002c0001t0001g0218 a0002c0001t0001g0219 a0002c0001t0001g0220 a0002c0001t0001g0221 a0002c0001t0001g0222 a0002c0001t0001g0225 a0002c0001t0001g0226 a0002c0001t0001g0227 a0002c0001t0001g0228 a0002c0001t0001g0231 a0002c0001t0001g0232 a0002c0001t0001g0233 a0002c0001t0001g0234 a0002c0001t0001g0235 a0002c0001t0001g0236 a0002c0001t0001g0237 a0002c0001t0001g0247 a0002c0001t0001g0251 a0002c0001t0001g0258 a0002c0001t0001g0259 a0002c0001t0001g0260 a0002c0001t0001g0261 a0002c0001t0001g0262 a0002c0001t0001g0263 a0002c0001t0001g0265 a0002c0001t0001g0266 a0002c0001t0001g0267 a0002c0001t0001g0269 a0002c0001t0001g0270 a0002c0001t0001g0271 a0002c0001t0001g0274 a0002c0001t0001g0275 a0002c0001t0001g0277 a0002c0001t0001g0278 a0002c0001t0001g0279 a0002c0001t0001g0280 a0002c0001t0001g0282 a0002c0001t0001g0288 a0002c0001t0001g0290 a0002c0001t0008g0078 a0002c0001t0008g0144 a0002c0001t0008g0190 a0002c0001t0008g0223 a0002c0001t0008g0224 a0002c0001t0008g0273 a0002c0001t0012g0281 a0002c0001t0013g0230 a0002c0001t0015g0172 a0002c0001t0021g0201 a0002c0010t0001g0028 a0002c0010t0001g0031 a0002c0010t0001g0032 a0002c0025t0001g0252 a0002c0027t0001g0212 a0003c0004t0001g0025 a0003c0004t0005g0001 a0003c0004t0005g0014 a0003c0004t0005g0024 a0003c0004t0005g0137 a0003c0004t0005g0264 a0003c0004t0012g0021 a0003c0004t0023g0015 a0003c0009t0004g0019 a0003c0009t0004g0020 a0003c0009t0004g0022 a0003c0009t0004g0114 a0004c0012t0002g0073 a0004c0012t0002g0124 a0005c0022t0001g0012 a0006c0014t0002g0009 a0007c0021t0004g0072 a0008c0023t0001g0272 a0009c0026t0001g0276	281	296	0.9493	353	c.162 others(370): Show c.162-4839_162-4838insGGGTTGCAGTGAGCCGAGATGGTGCCAC TGCACTCCGCCACACTTGGCCTCGCCCAGGCTGGTTTTTGTTTGTTTGTT TGTTTGTTTGTTTTGTGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCC ATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTGGTTTTAAACCAAGGCTGGGAAAAGCCGGATGGAGGTTG GGTGTGGTGGCTCACGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGG AGAATCGCTTGAACCCGGGAGGCGG	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST3_chr19_18092778_18156687	18116838	A A	AGGAGGCG others(346): Show AGGAGGCGGGGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCGCCAC ACTTGGCCTCGCCCAGGCTGGTTTTTGTTTGTTTGTTTGTTTGTTTGTTT TGTGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTC AGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTGG TTTTAAACCAAGGCTGGGAAAAGCTGGATGGAGGTTGGGTGTGGTGGCTC ACGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAA CCCG	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02630.hp2 HG02145.hp2 HG02630.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0009 a0001c0006t0009	a0001c0006t0009g0135 a0001c0006t0009g0136 a0001c0006t0009g0135 a0001c0006t0009g0136	2	296	0.0068	353	c.162 others(370): Show c.162-4839_162-4838insGGGTTGCAGTGAGCCGAGATGGTGCCAC TGCACTCCGCCACACTTGGCCTCGCCCAGGCTGGTTTTTGTTTGTTTGTT TGTTTGTTTGTTTTGTGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTG CAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCC ATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCAC TACGCCCGGCTGGTTTTAAACCAAGGCTGGGAAAAGCTGGATGGAGGTTG GGTGTGGTGGCTCACGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGG AGAATCGCTTGAACCCGGGAGGCGG	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MAST3_chr19_18092778_18156687	18116838	A A	AGGAGGTG others(346): Show AGGAGGTGGGGGTTGCAGTGAGCCGAGATGGTGCCACTGCACTCCGCCAC ACTTGGCCTCGCCCAGGCTGGTTTTTGTTTGTTTGTTTGTTTGTTTGTTT TGTGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATC TCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCACGCCATTCTCCTGCCTC AGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTGG TTTTAAACCAAGGCTGGGAAAAGCCGGATGGAGGTTGGGTGTGGTGGCTC ACGCCTGTAATCCCAGCTACTTGGAGGCTGAGGCAGGAGAATCGCTTGAA CCCG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02886.hp1 HG02970.hp2 others(6): Show HG02717.hp1 HG02886.hp1 HG02970.hp2 HG03041.hp2 HG03130.hp1 HG03195.hp2 HG03471.hp1 HG03579.hp1 NA18522.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0006 a0001c0005t0005 a0001c0005t0006	a0001c0005t0005g0068 a0001c0005t0006g0065 a0001c0005t0006g0066 others(6): Show a0001c0005t0005g0068 a0001c0005t0006g0065 a0001c0005t0006g0066 a0001c0005t0006g0067 a0001c0005t0006g0138 a0001c0005t0006g0139 a0001c0005t0006g0140 a0001c0005t0006g0141 a0001c0005t0006g0142	9	296	0.0304	353	c.162 others(370): Show c.162-4842_162-4841insTGGGGGTTGCAGTGAGCCGAGATGGTGC CACTGCACTCCGCCACACTTGGCCTCGCCCAGGCTGGTTTTTGTTTGTTT GTTTGTTTGTTTGTTTTGTGATGGAGTCTTGCTCTGTCGCCCAGGCTGGA GTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCAGGTTCAC GCCATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGACTACAGGCGCCCGC CACTACGCCCGGCTGGTTTTAAACCAAGGCTGGGAAAAGCCGGATGGAGG TTGGGTGTGGTGGCTCACGCCTGTAATCCCAGCTACTTGGAGGCTGAGGC AGGAGAATCGCTTGAACCCGGGAGG	MAST3	ENSG00000099308.13	transcript	ENST00000687212.1	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr19	TogoVar
MCUR1_chr6_13781557_13819557	13793171	T T	TAAGAAAG others(346): Show TAAGAAAGTTTAAATCTTTCAGGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATTG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGG GAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCAGAGCTTGCAGTG AGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCG AGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0247 a0001c0004t0003g0247	1	424	0.0024	353	c.909 others(368): Show c.909+722_909+723insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACTGCG GACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCGGGTTC ACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCC GCCACCGCGCCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCTGAAAGATTTAAACTTTCTT	MCUR1	ENSG00000050393.12	transcript	ENST00000379170.9	protein_coding	7/8			chr6	TogoVar
MIA3_chr1_222613097_222673007	222645833	T T	TGTGTTGG others(346): Show TGTGTTGGTAAATTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01261.hp2 HG01993.hp2 others(3): Show HG00673.hp1 HG01261.hp2 HG01993.hp2 NA18747.hp2 NA18955.hp1 NA18983.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0033 a0002c0001t0002g0129 a0002c0001t0002g0144 others(2): Show a0002c0001t0002g0033 a0002c0001t0002g0129 a0002c0001t0002g0144 a0002c0001t0002g0146 a0002c0001t0002g0151	6	370	0.0162	353	c.360 others(370): Show c.3609+164_3609+165insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTA CAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCGTGTTGGTAAATTCTT	MIA3	ENSG00000154305.18	transcript	ENST00000344922.10	protein_coding	7/27		INFO_REALIGN_3_PRIME	chr1	TogoVar
MLPH_chr2_237482251_237560322	237545200	T T	TGGGGACA others(346): Show TGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGGGACAGTGGTG AGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGACAG TGGTTAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGAGG GGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAGTGG GGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGG AGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0005 a0005	a0005c0004 a0005c0004	a0005c0004t0001 a0005c0004t0001	a0005c0004t0001g0019 a0005c0004t0001g0019	1	286	0.0035	353	c.154 others(372): Show c.1540-1386_1540-1385insGGACAGTGGTGAGTGGGGGGACAGTG GTGAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGGGGGGA CAGTGGTTAGTGGGGGGACAGTGGTGAGTGGAGGGGACAGTGGTGAGTGG AGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGAGGACAGTGGTGAG TGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGTGAG TGGAGGGGACAGTGGTGAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGT GAGTGGGGACAGTGGTGAGTGGGGGGACAGTGGTGAGTGGGGACAGTGGT GAGTGGAGGGGACAGTGGTGAGTGGGG	MLPH	ENSG00000115648.14	transcript	ENST00000264605.8	protein_coding	12/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
MMACHC_chr1_45495300_45518382	45497707	G G	GGGGGGGG others(346): Show GGGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCAGGGAGGGAGG TGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGG GGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCC AGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCG GCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCT ACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGG GAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGG AAGT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp1 HG02056.hp2 NA19083.hp1 HG01934.hp1 HG02056.hp2 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0007 a0001c0001t0002g0113 a0001c0001t0006g0016 a0001c0001t0002g0007 a0001c0001t0002g0113 a0001c0001t0006g0016	3	386	0.0078	353	c.-26 others(364): Show c.-2626_-2625insGGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCC CGTCAGGGAGGGAGGTGGGGGTGTCAGCCCCCCGCCCGGCCAGCCGCCCC ATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGA GGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGG TCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTC TGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCC GCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCG CCCAGTCCGGGAGGGAAGT	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2592		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497762	T T	TGTCAGCC others(346): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCAGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGG GGGGGTCAGCCCCCCGCCAGGCCAGCCTCCCCGTCTGGGAGGGAGGTGGG GGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00597.hp2 NA18977.hp2 NA18978.hp2 others(1): Show HG00597.hp2 NA18977.hp2 NA18978.hp2 NA18988.hp1	a0001 a0007 a0001 a0007	a0001c0001 a0007c0012 a0001c0001 a0007c0012	a0001c0001t0003 a0007c0012t0003 a0001c0001t0003 a0007c0012t0003	a0001c0001t0003g0009 a0001c0001t0003g0087 a0007c0012t0003g0009 a0001c0001t0003g0009 a0001c0001t0003g0087 a0007c0012t0003g0009	4	386	0.0104	353	c.-25 others(364): Show c.-2571_-2570insGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCAGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCTCCCCGTC TGGGAGGGAGGTGGGGGGG	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2537		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497762	T T	TGTCAGCC others(346): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAG CCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGG GAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT GGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGT GGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCGTCTGGGAGGGAGGTG GGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18967.hp2 NA18967.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0117 a0001c0001t0008g0117	1	386	0.0026	353	c.-25 others(364): Show c.-2571_-2570insGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCC GGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCC GTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCA GTCCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCGCCCCG TCTGGGAGGGAGGTGGGGG	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2537		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497762	T T	TGTCAGCC others(346): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCACCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGG GGGGGTCAGCCCCCCGCCAGGCCAGCCTCCCCGTCTGGGAGGGAGGTGGG GGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01515.hp2 HG01517.hp1 HG04199.hp2 others(1): Show HG01515.hp2 HG01517.hp1 HG04199.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0018 a0001c0001t0004 a0001c0001t0018	a0001c0001t0004g0004 a0001c0001t0018g0037 a0001c0001t0004g0004 a0001c0001t0018g0037	4	386	0.0104	353	c.-25 others(364): Show c.-2571_-2570insGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCACCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCTCCCCGTC TGGGAGGGAGGTGGGGGGG	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2537		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497762	T T	TGTCAGCC others(346): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGG GGGGGTCAGCCCCCCGCCAGGCCAGCCTCCCCGTCTGGGAGGGAGGTGGG GGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp1 HG00323.hp2 others(46): Show HG00099.hp1 HG00280.hp1 HG00323.hp2 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01071.hp2 HG01099.hp2 HG01167.hp1 HG01169.hp1 HG01192.hp2 HG01256.hp1 HG01257.hp2 HG01358.hp1 HG01433.hp1 HG01891.hp1 HG01981.hp1 HG02040.hp2 HG02055.hp2 HG02071.hp2 HG02109.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02602.hp1 HG02683.hp1 HG02735.hp2 HG02818.hp2 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03225.hp1 HG03490.hp2 HG03654.hp2 HG03669.hp2 HG03710.hp1 NA18962.hp2 NA18966.hp2 NA19005.hp2 NA19030.hp1 NA19076.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0004 a0001 a0004	a0001c0001 a0004c0006 a0001c0001 a0004c0006	a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 others(7): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0012 a0001c0001t0017 a0001c0001t0018 a0001c0001t0029 a0001c0001t0030 a0001c0001t0034 a0001c0001t0035 a0004c0006t0003	a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0015 others(27): Show a0001c0001t0003g0005 a0001c0001t0003g0009 a0001c0001t0003g0015 a0001c0001t0003g0019 a0001c0001t0003g0024 a0001c0001t0003g0035 a0001c0001t0003g0049 a0001c0001t0003g0073 a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0004g0004 a0001c0001t0004g0037 a0001c0001t0012g0015 a0001c0001t0012g0019 a0001c0001t0012g0024 a0001c0001t0012g0035 a0001c0001t0012g0046 a0001c0001t0012g0047 a0001c0001t0017g0015 a0001c0001t0017g0033 a0001c0001t0017g0034 a0001c0001t0018g0004 a0001c0001t0018g0005 a0001c0001t0018g0019 a0001c0001t0029g0005 a0001c0001t0030g0034 a0001c0001t0030g0086 a0001c0001t0034g0015 a0001c0001t0035g0091 a0004c0006t0003g0009	49	386	0.1269	353	c.-25 others(364): Show c.-2571_-2570insGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC CCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCTCCCCGTC TGGGAGGGAGGTGGGGGGG	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2537		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497762	T T	TGTCAGCC others(346): Show TGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCC TCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAG CCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCTCCCGCCCGGCCAGC CGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGG AAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTG GGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGG GGGGGTCAGCCCCCCGCCAGGCCAGCCTCCCCGTCTGGGAGGGAGGTGGG GGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp2 NA18959.hp2 HG00544.hp2 NA18959.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0075 a0001c0001t0077 a0001c0001t0075 a0001c0001t0077	a0001c0001t0075g0090 a0001c0001t0077g0085 a0001c0001t0075g0090 a0001c0001t0077g0085	2	386	0.0052	353	c.-25 others(364): Show c.-2571_-2570insGTCAGCCCCCCGCCCGGCCAGCCGCCCCATCCGG GAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCC CCTCTGCCCAGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCC TCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCG GCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCG TCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGT CCGGGAGGGAAGTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCTCCCCGTC TGGGAGGGAGGTGGGGGGG	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2537		chr1	TogoVar
MMACHC_chr1_45495300_45518382	45497773	C C	CGCCCGGC others(346): Show CGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGGCGCCTCTGCCCGGCC GCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAGCCAGCCGCCCCGTCC GGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCG GGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGC CCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGC CCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAAGTGGGGGGGTCAGCC CCCCGCCAGGCCAGCCTCCCCGTCTGGGAGGGAGGTGGGGGGGGTCAGCC CCCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0005 a0001c0001t0003g0005	1	386	0.0026	353	c.-25 others(364): Show c.-2560_-2559insGCCCGGCCAGCCGCCCCATCCGGGAGGTGAGGGG CGCCTCTGCCCGGCCGCCCCTACTGGGAAGTGAGGAGCCCCTCTGCCCAG CCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGC CAGCCGCCCCGTCCGGGAGGTGAGGGGCGCCTCTGCCCGGCCGCCCCTAC TGGGAAGTGAGGAGCCCCTCTGCCCGGCCAGCCGCCCCGTCCGGGAGGGA GGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCAGTCCGGGAGGGAA GTGGGGGGGTCAGCCCCCCGCCAGGCCAGCCTCCCCGTCTGGGAGGGAGG TGGGGGGGGTCAGCCCCCG	MMACHC	ENSG00000132763.15	transcript	ENST00000401061.9	protein_coding		2526		chr1	TogoVar
MMP26_chr11_4699784_4997429	4729984	A A	ACAGCCCT others(346): Show ACAGCCCTCATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	NA18942.hp1 NA18942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	206	0.0049	353	c.-21 others(374): Show c.-217+24953_-217+24954insTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGC CCAGGCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCT CCGCTTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTG GGACTACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGT AGAGACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCT CATGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG CCACCGCGCCCGGCCCAGCCCTCATTTTT	MMP26	ENSG00000167346.9	transcript	ENST00000380390.6	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr11	TogoVar
MOB1B_chr4_70897369_70993168	70903945	T T	TAAAAAAG others(346): Show TAAAAAAGTCCTGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTT TGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCT GGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGTGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0067 a0001c0001t0004g0067	1	284	0.0035	353	c.14+ others(368): Show c.14+1406_14+1407insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA AAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGG AGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAAGCGGAGCTTGCAGTGA GCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGA GACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGTCCT	MOB1B	ENSG00000173542.9	transcript	ENST00000309395.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
MROH9_chr1_170930534_171069765	170994904	T T	TAAGATTA others(346): Show TAAGATTATAGCCCAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCA TCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAGAT TGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACTCCGT CTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 HG02148.hp1 HG01168.hp2 HG01169.hp2 HG02148.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0004 a0003c0006t0001 a0003c0006t0004	a0003c0006t0001g0170 a0003c0006t0001g0171 a0003c0006t0004g0046 a0003c0006t0001g0170 a0003c0006t0001g0171 a0003c0006t0004g0046	3	226	0.0133	353	c.119 others(370): Show c.1195-470_1195-469insGCCGGGCGCGGTGGCTCACGCCTGTAAT CCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCG AGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAA AAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAG GCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGC CGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGA CTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAGATTATAGCCCAG	MROH9	ENSG00000117501.15	transcript	ENST00000367759.9	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSH4_chr1_75791882_75918242	75886338	T T	TATTATAT others(346): Show TATTATATATAGCATGTATAGTATATATGATGTATTATATATAGCATGTA TAGTATATATGATGTATTATATATAGCATGTATAGTATATATGATGTATT ATATATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGT ATATATGATGTATTATATATAGCATGTATAGTATATATGATGTATTATAT ATAGCATGTATAGTATATATGATGTATTATATATAGTGTATAGTATATAT GGTATATATGATGTATTATATATTATATATAATATATATGATGTATTATA TATTATATATAATATATATGATGTATTATATATTATATATAATATATATG ATGC	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19085.hp1 NA19070.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0291 a0001c0002t0001g0307 a0001c0002t0001g0291 a0001c0002t0001g0307	2	332	0.0060	353	c.210 others(372): Show c.2107+2526_2107+2527insAGCATGTATAGTATATATGATGTATT ATATATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGT ATATATGATGTATTATATATAGCATGTATAGTATATATGATGTATTATAT ATAGCATGTATAGTATATATGATGTATTATATATAGCATGTATAGTATAT ATGATGTATTATATATAGCATGTATAGTATATATGATGTATTATATATAG TGTATAGTATATATGGTATATATGATGTATTATATATTATATATAATATA TATGATGTATTATATATTATATATAATATATATGATGTATTATATATTAT ATATAATATATATGATGCATTATATAT	MSH4	ENSG00000057468.7	transcript	ENST00000263187.4	protein_coding	15/19		INFO_REALIGN_3_PRIME	chr1	TogoVar
MSLN_chr16_755734_773862	767619	G G	GGCGTGGA others(346): Show GGCGTGGAGGAGGGGCGCGTGGAGGGGGGAGCGTGGGGGGCGTGGAGGAG GGGCGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGA GGGGGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGAGGGGCGCGTG GAGGAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGC ACGTGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGG GGGCGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGG GGGGCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGG GGGT	intron_variant intron_variant	MODIFIER	NA18979.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0143	1	388	0.0026	353	c.159 others(370): Show c.1596+173_1596+174insGGGGAGCGTGGGGGGCGTGGAGGAGGGG CGCGTGGAGGGGGCCGTGTGGGGGGGCGTGGAGGAGGGGCGTGTGGAGGG GGGCGCGTGGGGGGGGCGCATGGGGGGGCGTGGAGGAGGGGCGCGTGGAG GAGGAGGGGCGCATGGGGGGGTGTGGAGGGGGGCGCGTGGAGGGGGCACG TGGAGGGGTCGCGTGGAGGAGGGGCGCGTGGAGGGGGCCGTGTGGGGGGG CGTGGAGGAGGGGCGCGTGGAGGGGGGCGCGTGGGGGGGTGTGGAGGGGG GCGCGTGGGGGTGTGTGGGGGGGGCACGTGGAGGGGGGCGTGTGGGGGGG TGCGTGGAGGAGGGGCGCGTGGAGG	MSLN	ENSG00000102854.16	transcript	ENST00000545450.7	protein_coding	16/17		INFO_REALIGN_3_PRIME	chr16	TogoVar
MYO3A_chr10_25929229_26217532	26076043	T T	TCTACTTT others(346): Show TCTACTTTCAGTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGAC TGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGG GTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGC GCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0003 a0003	a0003c0022 a0003c0022	a0003c0022t0005 a0003c0022t0005	a0003c0022t0005g0277 a0003c0022t0005g0277	1	280	0.0036	353	c.135 others(372): Show c.1359+5658_1359+5659insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCCGGACTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGC TTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGAC TACAGGCGCCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATG ATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCCTACTTTCAGTTCTTT	MYO3A	ENSG00000095777.17	transcript	ENST00000642920.2	protein_coding	14/34		INFO_REALIGN_3_PRIME	chr10	TogoVar
NAA16_chr13_41306267_41382030	41327735	T T	TGTTTAAA others(346): Show TGTTTAAAGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAG GCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGCCTCCCGG GTTCACGCCATTCTTCCGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGC GCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGT TTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCGCC CGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCC GGCC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0047 a0002c0003t0005g0047	1	354	0.0028	353	c.692 others(368): Show c.692-977_692-976insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTTCCGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGAG ACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTG ATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC CGCGCCCGGCCGTTTAAAGTTTT	NAA16	ENSG00000172766.19	transcript	ENST00000379406.8	protein_coding	6/19		INFO_REALIGN_3_PRIME	chr13	TogoVar
NACC2_chr9_136001537_136100289	136023108	G G	GGAGGGAG others(346): Show GGAGGGAGGGAAGAGGGAGGGAGGAAGGAGGGAAGAGGGAGGGAGGGAAG GAGGGAAGAGGAAGGAGGGAGGGAGGAGGGAGGGAGGAGGGACGGAGGAG GGAGGAGGGAGGGAGGAGGGAGGCAGGAGGGCGGGAGGAGGGAGGGAGGA GGGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAG GGAGGAGGGAGGAGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGG AGGGAGGAGGAGGGAGGAGAGAGGAGGGAGGGAGGAGGGAGGGAGGAGGA AGGAGGAGAGAGGAGGGAGGGAGGAGGGGGGAGGGAGGAGGGAGGGGGAG GGAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0046 a0001c0002t0046	a0001c0002t0046g0003 a0001c0002t0046g0003	1	348	0.0029	353	c.887 others(370): Show c.887-6680_887-6679insGTCCCTCCCCCTCCCTCCTCCCTCCCCC CTCCTCCCTCCCTCCTCTCTCCTCCTTCCTCCTCCCTCCCTCCTCCCTCC CTCCTCTCTCCTCCCTCCTCCTCCCTCCTCCTCCCTCCCTCCTCTCTCCT CCCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCTCTCCTC CCTCCTCCTCCCTCCTCCCTCCTCCCTCCTCCCTCCCTCCTCCCGCCCTC CTGCCTCCCTCCTCCCTCCCTCCTCCCTCCTCCGTCCCTCCTCCCTCCCT CCTCCCTCCCTCCTTCCTCTTCCCTCCTTCCCTCCCTCCCTCTTCCCTCC TTCCTCCCTCCCTCTTCCCTCCCTC	NACC2	ENSG00000148411.8	transcript	ENST00000277554.4	protein_coding	2/5			chr9	TogoVar
NCEH1_chr3_172625249_172716067	172690951	T T	TCTGTGGG others(346): Show TCTGTGGGGAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGACT GCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCCGCTTCCCGGG TTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCG CCCGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTT TCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCC GCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCG GCCC	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02717.hp1 HG02922.hp1 HG02109.hp1 HG02717.hp1 HG02922.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0001c0001t0014 a0002c0002t0002 a0001c0001t0002 a0001c0001t0014 a0002c0002t0002	a0001c0001t0002g0042 a0001c0001t0014g0025 a0002c0002t0002g0024 a0001c0001t0002g0042 a0001c0001t0014g0025 a0002c0002t0002g0024	3	332	0.0090	353	c.138 others(372): Show c.138+19895_138+19896insGGGCCGGGCGCGGTGGCTCACGCCTG TAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAG ATCGAGACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATA CAAAAAATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCG GGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGT GAGCCGAGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGC GAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAATTTCCCCACAG	NCEH1	ENSG00000144959.11	transcript	ENST00000475381.7	protein_coding	1/4			chr3	TogoVar
NEU4_chr2_241804193_241822413	241807139	T T	TTCCCTCC others(346): Show TTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTC CCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCC AGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGACCTCCG CAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCT CCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTTCCCTCCCTCCCCCCT CAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCC ACTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0145 a0002c0003t0002g0145	1	319	0.0031	353	c.-21 others(364): Show c.-2139_-2138insTCCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGC AGGCCACCCTCCCTCCCCCTCAACCCAGGGACCTCTGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCA GCCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGACC TCTGCAGGCCACCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCTT CCCTCCCTCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCCC CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAG GGACCTCCGCAGGCCACTC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		2053		chr2	TogoVar
NFATC4_chr14_24363184_24384601	24364746	A A	ATATATAT others(346): Show ATATATATAGTATATCTGTGTATATGCTATATAGTATAGTGTATAGTATA TCTGTGTATATATAGTATATCTGTACATATATACATATATAGTATATATA TAGTATATCTGTGTATATGCTATATAGTATAGTGTATAGTATATCTGTGT ATATATAGTATATCTGTACATATATACATATATAGTATATATATAGTATA TCTGTACATATATACATATATAGTATATATATAGTATATCTGTACATATA TACATATATAGTATATATATAGTATATCTGTGTATATGCTATATAGTATA GTGTATAGTATATCTGTGTATATATAGTATATCTGTACATATATACATAT ATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00558.hp1 others(38): Show HG00408.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp1 HG01109.hp2 HG01167.hp2 HG01169.hp1 HG01934.hp1 HG01952.hp1 HG02027.hp1 HG02040.hp1 HG02135.hp1 HG02135.hp2 HG02523.hp2 HG03831.hp1 HG04184.hp1 NA18612.hp2 NA18959.hp1 NA18961.hp2 NA18964.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18971.hp1 NA18975.hp2 NA18979.hp2 NA18982.hp1 NA18984.hp1 NA18986.hp2 NA18993.hp2 NA19002.hp1 NA19005.hp2 NA19010.hp1 NA19066.hp2 NA19067.hp1 NA19076.hp1 NA19081.hp1 NA19082.hp1 NA19085.hp2 NA19091.hp2	a0001 a0003 a0009 a0001 a0003 a0009	a0001c0001 a0001c0002 a0003c0011 others(1): Show a0001c0001 a0001c0002 a0003c0011 a0009c0019	a0001c0001t0004 a0001c0002t0001 a0001c0002t0011 others(3): Show a0001c0001t0004 a0001c0002t0001 a0001c0002t0011 a0001c0002t0016 a0003c0011t0002 a0009c0019t0001	a0001c0001t0004g0025 a0001c0002t0001g0004 a0001c0002t0001g0037 others(5): Show a0001c0001t0004g0025 a0001c0002t0001g0004 a0001c0002t0001g0037 a0001c0002t0001g0045 a0001c0002t0011g0004 a0001c0002t0016g0004 a0003c0011t0002g0044 a0009c0019t0001g0004	41	394	0.1041	353	c.-35 others(364): Show c.-3595_-3594insTATATATAGTATATCTGTGTATATGCTATATAGT ATAGTGTATAGTATATCTGTGTATATATAGTATATCTGTACATATATACA TATATAGTATATATATAGTATATCTGTGTATATGCTATATAGTATAGTGT ATAGTATATCTGTGTATATATAGTATATCTGTACATATATACATATATAG TATATATATAGTATATCTGTACATATATACATATATAGTATATATATAGT ATATCTGTACATATATACATATATAGTATATATATAGTATATCTGTGTAT ATGCTATATAGTATAGTGTATAGTATATCTGTGTATATATAGTATATCTG TACATATATACATATATAG	NFATC4	ENSG00000100968.14	transcript	ENST00000250373.9	protein_coding		3437		chr14	TogoVar
NLRP8_chr19_55942832_55993629	55993533	C C	CCCCTCCC others(346): Show CCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCC CCTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCC CTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTC CCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCTCCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCC CTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCTCC CCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTC CCCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18998.hp1 NA18998.hp1	a0000 a0000	a0000c0038 a0000c0038	a0000c0038t0006 a0000c0038t0006	a0000c0038t0006g0011 a0000c0038t0006g0011	1	350	0.0029	353	c.56 others(364): Show c.5620_*5621insCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCT CCCCCTCCCCCCTCCCCTCCCCCTCCCCCCCTCCCCTCCCCTCCCCCCTC CCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCCCCTCCCCTCCCCCTCCCC CCTCCCCTCCCCCTCCCCCCCTCCCCTCCCCCTCCCCTCCCCCTCCCCCT CCCCCTCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCCCTCCCC TCCCCCTCCCCTCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCC TCCCCCTCCCCCTCCCCCTCCCCCTCCCCTCCCCCTCCCTCCCCCTCCCC CTCCCCCTCCCCCTCCCCT	NLRP8	ENSG00000179709.8	transcript	ENST00000291971.7	protein_coding		4905		chr19	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(346): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGTGAGGGAGTCGGG GGGT	intron_variant intron_variant	MODIFIER	HG01255.hp2 NA18944.hp1 NA18984.hp2 others(2): Show HG01255.hp2 NA18944.hp1 NA18984.hp2 NA19070.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0052 a0001c0001t0001g0006 a0001c0001t0001g0052	5	356	0.0140	353	c.91+ others(366): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTTGGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397703	G G	GGGGGGTG others(346): Show GGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGG GGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGG GGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGT GGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGGGTGAGGGAGTCGGG GGGT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0055	1	356	0.0028	353	c.91+ others(366): Show c.91+393_91+394insGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGG TGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGG GGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGG GGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCG GGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTTGGGGG GTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGTGGGGGGG GTGAGGGAGTCGGGGGGTGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOC4L_chr12_132139457_132157468	132149094	T T	TACCACAC others(346): Show TACCACACCCCTAATCCCCTCGGTGAGTGCCGCTGCCTCGCTCATACCAC ACCCCTAATCCCCTCGGTGAGTGCCGCTGCCTCGCTCACACCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCACTCATACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCACTCATGCCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCCTCGCTCATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCG CCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGC TCAC	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	294	0.0034	353	c.901 others(368): Show c.901+231_901+232insTGCCTCGCTCATACCACACCCCTAATCCCC TCGGTGAGTGCCGCTGCCTCGCTCACACCACACCCCTAATCCCCTCGGTG AGTGCCGCCGCCTCACTCATACCACACCCCTAATCCCCTCGGTGAGTGCC GCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCC TCACTCATGCCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCCTCGCT CATACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCC CTAATCCCCTCGGTGAGTGCCGC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NOVA1_chr14_26438090_26603033	26570993	C C	CAAGAATC others(346): Show CAAGAATCACAAAGTCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAG CACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACC ATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAAT TAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0232 a0001c0001t0008g0232	1	244	0.0041	353	c.280 others(372): Show c.280+24416_280+24417insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGT CGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGC CTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGAC TACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCGACTTTGTGATTCTT	NOVA1	ENSG00000139910.20	transcript	ENST00000539517.7	protein_coding	2/4			chr14	TogoVar
NOX4_chr11_89319353_89496375	89474979	T T	TAAATAAC others(346): Show TAAATAACAGAAGCCGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGC ACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCA TCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTA GCCGGGTGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG00741.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0270 a0001c0001t0002g0270	1	288	0.0035	353	c.153 others(372): Show c.153+15478_153+15479insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCT GTCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCC GCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGG ACTACAGGCGCCCGCCACTACACCCGGCTAATTTTTTGTATTTTTAGTAG AGACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG TGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCC ACCGCGCCCGGCCGGCTTCTGTTATTT	NOX4	ENSG00000086991.13	transcript	ENST00000263317.9	protein_coding	2/17			chr11	TogoVar
NRF1_chr7_129606720_129762076	129642756	A A	ACTTTTTT others(346): Show ACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTG TCGCCCAGGCTGGAGTGCAGTGGCGGGATCTCGGCTCACTGCAAGCTCCG CCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGA CTACAGGCGCCCGCCACTACGCCCGGCTAATTTTTTGTATTTTTAGTAGA GACGGGGTTTCACCGTTTTAGCCGGGATGGTCTCGATCTCCTGACCTCGT GATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCA CCGCGCCCGGCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0026 a0001c0001t0002g0026	1	384	0.0026	353	c.-6- others(370): Show c.-6-14590_-6-14589insCTTTTTTTTTTTTTTTTTTTTTTTTTTT TTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCGGGAT CTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCT CAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACTACGCCCGGCTA ATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG GTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGC TGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTT	NRF1	ENSG00000106459.15	transcript	ENST00000393232.6	protein_coding	1/10			chr7	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(346): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATATAAAGTATATATATAATATATATAATATATATTATAT ATATAAAGTATATATATAATATATATAATATATATTATATATATAAAGTA TATATATAATATATATAATATATATTATATATATAAAGTATATATATAAT ATATATTATATATATTATATATATAAAGTATATATATAATATATATTATA TATATTATATATATAAAGTATATATATAATATATATTATATATAAAGTAT ATATATAATATATATTATATATATAAAATATATAATATATATTATATATA TAAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	308	0.0033	353	c.730 others(370): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATAATATATATTATATATATACTTTATATATAATATATATTA TATATATACTTTATATATATAATATATATAATATATATTATATATATACT TTATATATATAATATATATAATATATATTATATATATACTTTATATATAT AATATATATTATATATATTATATATATACTTTATATATATAATATATATT ATATATATTATATATATACTTTATATATATAATATATATTATATATATTA TATATATACTTTATATATATAATATATATTATATATATTATATATATACT TTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NSMAF_chr8_58578508_58664853	58584510	C C	CAAAAGTT others(346): Show CAAAAGTTGGGAGACAGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGAC CATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAG ATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0139	1	368	0.0027	353	c.266 others(370): Show c.2660-311_2660-310insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCG CCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCT CCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTA CAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGAC GGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGAT CCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCG CGCCCGGCCCTGTCTCCCAACTTTT	NSMAF	ENSG00000035681.9	transcript	ENST00000038176.8	protein_coding	30/30			chr8	TogoVar
NT5C1A_chr1_39646229_39677107	39664492	T T	TCTCCTCT others(346): Show TCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCC TCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCC CCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCCTCCCCTCCC CTCCCCTCCCCTCTCCTCTCCTCCCCTCCCCTCCCCTCCCCTCCCCTCCC CCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCT TCCCCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCC CTTCCCCCTCCCCCTCCCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCC CTCC	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0148	1	326	0.0031	353	c.433 others(370): Show c.433+1028_433+1029insGGAGGGGAAGGGGAGAGGGAAGGGGAAG GGGGAGGGGGGAGGGGGAGGGGGAAGGGGGAGGGGAGGGGAAGGGGAGAG GGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAA GGGGAAGGGGGAGGGGAGGGGAAGGGGGGAGGGGAGGGGAGGGGAGGGGA GGGGAGGAGAGGAGAGGGGAGGGGAGGGGAGGGGAGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGAGAGGAGAGAGGAGAGGAGAGGAGAGGAGAGGAG AGGAGAGGAGAGGAGAGGAGAGGAG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(346): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTC TCCCTCTCCTCTCCCTCTCCTCTCCCTCTCCTCTCCCTCTCCTCTCCCTC TCCTCTCCCTCTCCTCTCCCTCTCCTCTCCCTCTCCTCTCCTCTCCTCTC CTCTCCCCTCCCCTCCCACCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCC TTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCC CCTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCCCTCCCCCTT CCCCTCCCCCTTCCCCTCCCCCTTCCCCTTCCCTCTCCCCTTCCCCTCCC CTCC	intron_variant intron_variant	MODIFIER	NA19012.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0102 a0001c0001t0102	a0001c0001t0102g0268 a0001c0001t0102g0268	1	326	0.0031	353	c.433 others(370): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGGGGAGAGGGAAGG GGAAGGGGGAGGGGAAGGGGGAGGGGAAGGGGGAGGGGAGGGGAAGGGGA GAGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGG GAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAG GGGGAGGGTGGGAGGGGAGGGGAGAGGAGAGGAGAGGAGAGGAGAGGGAG AGGAGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGAGAGGGAGAGGAGA GGGAGAGGAGAGGGAGAGGAGAGGGAGAGGAGAGGAGAGGAGAGGAGAGG AGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NTAQ1_chr8_123411774_123447240	123421386	T T	TAAGAATA others(346): Show TAAGAATAGTCATTCTGGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCA GCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGAC CATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAAAT TAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTG AGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCCGAG ATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGACTCC GTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	NA18995.hp2 NA18995.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0199 a0002c0002t0002g0199	1	366	0.0027	353	c.83+ others(368): Show c.83+4470_83+4471insGGCCGGGCGCGGTGGCTCACGCCTGTAATC CCAGCACTTTGGGAGGCCGAGGCGGGTGGATCATGAGGTCAGGAGATCGA GACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAA AATTAGCCGGGCGCGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGG CTGAGGCAGGAGAATGGCGTGAACCCGGGAAGCGGAGCTTGCAGTGAGCC GAGATTGCGCCACTGCAGTCCGCAGTCCGACCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAGAATAGTCATTCTG	NTAQ1	ENSG00000156795.8	transcript	ENST00000287387.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr8	TogoVar
OR4K14_chr14_20009143_20024307	20016136	A A	ACTGAATG others(346): Show ACTGAATGTACATTATTATTATTATTATTATTATTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCCGGA CTGCGGACTGCAGTGGCGCAATCTCGGCTCACTGCAAGCTCTGCTTCCCG GGTTCCCGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG CGCCTGCCACCGCGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGG TTTCACCTTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCAC CCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCC CGGC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0237 a0001c0001t0002g0237	1	438	0.0023	353	c.-29 others(368): Show c.-29-915_-29-914insGCCGGGCGCGGTGGCTCACGCCTGTAATCC CAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGATCGAG ACCATCCTGGCTAACAAGGTGAAACCCCGTCTCTACTAAAAATACAAAAA ATTAGCCGGGCGCGGTGGCAGGCGCCTGTAGTCCCAGCTACTCGGGAGGC TGAGGCAGGAGAATGGCGGGAACCCGGGAAGCAGAGCTTGCAGTGAGCCG AGATTGCGCCACTGCAGTCCGCAGTCCGGCCTGGGCGACAGAGCGAGACT CCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAATAATAA TAATAATAATAATGTACATTCAG	OR4K14	ENSG00000169484.4	transcript	ENST00000641793.1	protein_coding	1/1			chr14	TogoVar
P2RX5_chr17_3668227_3701155	3685648	G G	GCGTCCCC others(346): Show GCGTCCCCCGGCTCTCCCCCCCTCCCGCCCAGCCTCAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAGCGT CCCCCGGCTCTCCCCCCCTCCCGCCCAGCCTCAGAACAGGAGAACGCACA GCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAG GAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCC CGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTC CCAA	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01981.hp2 HG01496.hp1 HG01981.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0245 a0001c0001t0001g0093 a0001c0001t0001g0245	2	362	0.0055	353	c.981 others(370): Show c.981+2363_981+2364insTTGGGAGGGTCCCTGGGGGCCCAGCTGT GCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGT CCCTGGGGGCCCAGCTGTGCGTTCTCCTGTTCTCAGGCTGGGAGGGGGAC GTTGGGAGGGTCCCTGGGGGTCCCGCTGTGCGTTCTCCTGTTCTGAGGCT GGGCGGGAGGGGGGGAGAGCCGGGGGACGCTGGGAGGGTCCCTGGGGGCC CCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGCGGGGGGCGGGGGACGTTG GGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGC GGGAGGGGGGGAGAGCCGGGGGACG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
P2RX5_chr17_3668227_3701155	3685648	G G	GCGTCCCC others(346): Show GCGTCCCCCGGCTCTCCCCCCCTCCTGCCCAGCCTCAGAACAGGAGAACG CACAGCGGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCCCGCCCAG CCTGAGAACAGGAGAACACACAGCGGGGCCCCCAGGGACCCTCCCAGCGT CCCCCGGCTCTCCCCCCCTCCCGCCCAGCCTCAGAACAGGAGAACGCACA GCGGGACCCCCAGGGACCCTCCCAACGTCCCCCTCCCAGCCTGAGAACAG GAGAACGCACAGCTGGGCCCCCAGGGACCCTCCCAACGTCCCCCGCCCCC CGCCCAGCCTCAGAACAGGAGAACGCACAGCTGGGCCCCCAGGGACCCTC CCAA	intron_variant intron_variant	MODIFIER	HG01934.hp1 HG01934.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0277 a0001c0001t0001g0277	1	362	0.0028	353	c.981 others(370): Show c.981+2363_981+2364insTTGGGAGGGTCCCTGGGGGCCCAGCTGT GCGTTCTCCTGTTCTGAGGCTGGGCGGGGGGCGGGGGACGTTGGGAGGGT CCCTGGGGGCCCAGCTGTGCGTTCTCCTGTTCTCAGGCTGGGAGGGGGAC GTTGGGAGGGTCCCTGGGGGTCCCGCTGTGCGTTCTCCTGTTCTGAGGCT GGGCGGGAGGGGGGGAGAGCCGGGGGACGCTGGGAGGGTCCCTGGGGGCC CCGCTGTGTGTTCTCCTGTTCTCAGGCTGGGCGGGGGGCGGGGGACGTTG GGAGGGTCCCTGGGGGCCCCGCTGTGCGTTCTCCTGTTCTGAGGCTGGGC AGGAGGGGGGGAGAGCCGGGGGACG	P2RX5	ENSG00000083454.23	transcript	ENST00000225328.10	protein_coding	9/11			chr17	TogoVar
PARD3B_chr2_204540475_205625162	205139889	T T	TAAGAAGC others(346): Show TAAGAAGCCAAGCTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCA CTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGAGATCGAGACCAT CCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTA GCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAG GCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGAT CCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0014 a0001c0004t0014	a0001c0004t0014g0016 a0001c0004t0014g0016	1	54	0.0185	353	c.143 others(374): Show c.1434+14165_1434+14166insGGCCGGGCGCGGTGGCTCACGCCT GTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCAGGA GATCGAGACCATCCCGGCTAAAACGGTGAAACCCCGTCTCTACTAAAAAA TACAAAAAATTAGCCGGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACT TGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCA GTGAGCCGAGATCCCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAC TCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAGAAGCCAAGCT	PARD3B	ENSG00000116117.20	transcript	ENST00000406610.7	protein_coding	10/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
PARD3_chr10_34104561_34820296	34665840	A A	AACACAGA others(346): Show AACACAGAACAGAACAGAACAGAACAGAAGAGAACAGAACAGAAGAGAAC AGAACAGAAGAGAACAGAACAGAAGAGAACAGAACAGAAGAGAACAGAAG AGAACAGAAGAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAAC AGAACAGAACAGAACAGAACAGAACAGAAAACAGAACAGAACAGAAAACA GAACAGAACAGAAAACAGAACAGAACAGAAAACAGAACAGAACAGAAAAC AGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAACAGAAC AGAACAGAACAGAACAACAGAACAGAACAACAGAACAGAACAACAGAACA GAAC	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG01167.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	100	0.0100	353	c.222 others(372): Show c.222+30477_222+30478insGTTCTGTTCTGTTGTTCTGTTCTGTT GTTCTGTTCTGTTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGT TCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTTTCTGTTCTGTTCTGTTTT CTGTTCTGTTCTGTTTTCTGTTCTGTTCTGTTTTCTGTTCTGTTCTGTTT TCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGTTCTGT TCTGTTCTGTTCTGTTCTCTTCTGTTCTCTTCTGTTCTCTTCTGTTCTGT TCTCTTCTGTTCTGTTCTCTTCTGTTCTGTTCTCTTCTGTTCTGTTCTCT TCTGTTCTGTTCTGTTCTGTTCTGTGT	PARD3	ENSG00000148498.17	transcript	ENST00000374788.8	protein_coding	2/24			chr10	TogoVar
PCBP3_chr21_45638725_45947450	45816089	G G	GAGTGGTG others(346): Show GAGTGGTGAGTGAGTGAGTGGATGAGTGGTGAGTGGTGAGTGAGTGGTGA GTGGTGAGTGAGTGGTGAGTGATGAGTGGTGAGTGGTGAGTGATGAGTGA GTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGATGAGTGAGTG GTGAGTGTGAGTGGTGCAGTGGTGAGTGGTGAGTGAGTGATGAGTGATGG GTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGAGTGGTGAGTGATGAGTG AGTGGTGAGTAGTGAGTGATGAGTGGTGAGTGGTGAGTGAGTGGTGAGTG GTGAGTGAGTGGTGAGTAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTG GTGA	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0071 a0001c0001t0003g0071	1	292	0.0034	353	c.-12 others(374): Show c.-125-33872_-125-33871insAGTGGTGAGTGAGTGAGTGGATGA GTGGTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTGATGA GTGGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGAGTGGTGAGTGGTGA GTGAGTGGTGAGTGATGAGTGAGTGGTGAGTGTGAGTGGTGCAGTGGTGA GTGGTGAGTGAGTGATGAGTGATGGGTGAGTGGTGAGTGATGAGTGAGTG GTGAGTGAGTGGTGAGTGATGAGTGAGTGGTGAGTAGTGAGTGATGAGTG GTGAGTGGTGAGTGAGTGGTGAGTGGTGAGTGAGTGGTGAGTAGTGAGTG GTGAGTGGTGAGTGAGTGGTGAGTGGTGA	PCBP3	ENSG00000183570.17	transcript	ENST00000681687.1	protein_coding	4/17			chr21	TogoVar

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