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
CRTC3_chr15_90524923_90650345	90647246	T T	TCAATCCT others(418): Show TCAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCT CCTCCACAATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCC CTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCT CCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCC CTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCAACCCCTCCTCCAC AGACCTCCTCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACAC CCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTC CACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAA TCCTCCTCCACACCCCTCCTCCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0050 a0001c0001t0006g0050	1	276	0.0036	425	c.51 others(436): Show c.5106_*5107insCAATCCTCCTCCACACCCCTCCTCCTCAATCCTC CTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCAA TCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTC CTCCACAATCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCACAA TCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTC CAACCCCTCCTCCACAGACCTCCTCCTCCTCCACACCCCTCCTCCTCCAC AATCCTCCTCCACACCCCTCCTCCTCAATCCTCCTCCACACCCCTCCTCC TCCACAATCCTCCTCCACACCCCTCCTCCTCCACAATCCTCCTCCACACC CCTCCTCCTCCACAATCCTCCTCCACACCCCTCCTCCTCCA	CRTC3	ENSG00000140577.17	transcript	ENST00000268184.11	protein_coding		1902		chr15	TogoVar
DECR2_chr16_396885_417482	397707	T T	TGTGGGGG others(418): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0016 a0001c0013t0001g0016	1	367	0.0027	425	c.-42 others(436): Show c.-4257_-4256insGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGG GTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGT GAGGGAGTCGGGTGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGT GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTG GGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTC GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGG	DECR2	ENSG00000242612.7	transcript	ENST00000219481.10	protein_coding		4177		chr16	TogoVar
DIP2C_chr10_269201_694668	478138	A A	AGAAGGGA others(418): Show AGAAGGGAGGAGAGGGGAGAAGAAGGGAGGAGAGGGGAGAAGAAGGGAGG AGAGGGGAGAAGAAGGGAGGAGAGGGGAGAAGAGGGGAGGGGAGGGGAGA AGAGGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAGGGGAGGGGAGG GGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGG GGAGAAGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGAAGAAG GGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGAAGAGGGGAGG GGAGAAGAAGGGAGGGGAGGGGAGAAGAGGGGAGGGGAGGGGAGGGGAAA AGAAGGGAGGGGAGGAGAGGGGAGGGGAGGGGAGAAGAAGGGAAGGGAGG GGAGGGGAGGGGAGAAGAAGGGAAGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0010 a0001c0004t0002g0010	1	88	0.0114	425	c.158 others(442): Show c.158-5590_158-5589insCCTTCCCTTCTTCTCCCCTCCCCTCCCC TCCCTTCCCTTCTTCTCCCCTCCCCTCCCCTCTCCTCCCCTCCCTTCTTT TCCCCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCTTCTTCTCCCC TCCCCTCTTCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCT TCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCTTCTCCCC TCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCC TCCCCTCCCCTCCCCTCCCCTCCCCTCTTCTCCCCTCCCCTCCCCTCTTC TCCCCTCCCCTCCCCTCTTCTCCCCTCTCCTCCCTTCTTCTCCCCTCTCC TCCCTTCTTCTCCCCTCTCCTCCCTTCTTCTCCCCTCTCCTCCCTTC	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DIP2C_chr10_269201_694668	478176	G G	GAAGAAGG others(418): Show GAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGA AGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGA GGGGAGAAGAAGGGAGGGGGAGAGGAGGGGAGGGGAGAAGAAGGGAGGGG AGGGGAGGGAGGGGAGAAGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAG GGGAGGGGAGGGGAGGGGAGAAGGGAGGGGAGGGGAGGGGAGGGGAGAAG AAGGGAGGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGGGGAGGGGAGGGG AGAAGAAGGGAGGGGAGGGAGGGGAGGGGAGAAGAAGGGAGGGGAGAAGA AGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGAGGGGAGAAGAAGGGA GGGGAGAAGAAGGGAGGGGAGAAGAA	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01515.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0075 a0001c0001t0003g0075	1	88	0.0114	425	c.158 others(442): Show c.158-5628_158-5627insTTCTTCTCCCCTCCCTTCTTCTCCCCTC CCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTC TTCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCTCCCCTCCCTTCTTCTCC CCTCCCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCCTCCCCTCCCTTCT TCTCCCCTCCCCTCCCCTCCCCTCCCTTCTCCCCTCCCCTCCCCTCCCCT CCCCTCCCCTCCCTTCTCCCCTCCCCTCCCTTCTCCCCTCCCTCCCCTCC CCTCCCTTCTTCTCCCCTCCCCTCCTCTCCCCCTCCCTTCTTCTCCCCTC CCCTCCCCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTC TTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTTCTCCCCTCCCTTCTT	DIP2C	ENSG00000151240.18	transcript	ENST00000280886.12	protein_coding	2/36			chr10	TogoVar
DPYSL2_chr8_26509031_26663175	26556265	A A	ATATATAC others(418): Show ATATATACTATATATATATAGTATATATATAGTATATATATACTATATAT ATAGTATATATATATAGTATATATATAGTATATATATAGTATATATATAG TATATATATAGTATATATATAGTATATATATAGTATATATATAGTATATA TATAGTATATATATATAGTATATATATAGTATATATATAGTATATATATA TAGTATATATATAGTATATATATAGTATATATATATAGTATATATATAGT ATATATATATAGTGTATATATATAGTATATATATATAGTGTATATATATA GTATATATATAGTATATATATAGTATATATAGTATATATGTATATATATA TAGTATATATATAGTATATATATATAGTATATATATAGTATATATATATA GTATATATATAGTATATATATATAGT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0206 a0001c0001t0036g0206	1	316	0.0032	425	c.355 others(444): Show c.355-25704_355-25703insTATATACTATATATATATAGTATATA TATAGTATATATATACTATATATATAGTATATATATATAGTATATATATA GTATATATATAGTATATATATAGTATATATATAGTATATATATAGTATAT ATATAGTATATATATAGTATATATATAGTATATATATATAGTATATATAT AGTATATATATAGTATATATATATAGTATATATATAGTATATATATAGTA TATATATATAGTATATATATAGTATATATATATAGTGTATATATATAGTA TATATATATAGTGTATATATATAGTATATATATAGTATATATATAGTATA TATAGTATATATGTATATATATATAGTATATATATAGTATATATATATAG TATATATATAGTATATATATATAGTATATATATAGTATATATATATAGT	DPYSL2	ENSG00000092964.18	transcript	ENST00000521913.7	protein_coding	1/13			chr8	TogoVar
EIPR1_chr2_3183970_3382818	3315169	C C	CCACCACC others(418): Show CCACCACCATCCCCATCCACAGCCCCTACCACCACCATCACCACCATCCC CATCCACACCCCCTACCACCATCCTCACCACCATCCCCATCCACACCCCC TACCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCATCCTC ACCACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCA TCCACAGCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTA CCACCACCATCACCACCATCCCCATCCACACCCCCTACCACCACCATCAC CACCATCCCCATCCACACCCCCTACCACCACCATCACCACCATCCCCATC CACACCCCCTACCACCACCATCACCACCATCCCCATCCACACCCCCTACC ACCACCATCACCACCATCCCCATCCA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG00741.hp1 HG01069.hp2 others(21): Show HG00735.hp2 HG00741.hp1 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01243.hp2 HG01256.hp2 HG01258.hp2 HG01346.hp2 HG01496.hp2 HG01516.hp2 HG01978.hp1 HG02273.hp2 HG02280.hp2 HG03654.hp2 HG04228.hp1 NA18945.hp2 NA19005.hp2 NA19010.hp2 NA19090.hp1 NA20300.hp1 NA20752.hp1 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0006 a0001c0001 a0001c0002 a0001c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0002t0002 a0001c0006t0003	a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 others(21): Show a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0053 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0001g0197 a0001c0001t0002g0055 a0001c0001t0003g0028 a0001c0001t0003g0063 a0001c0001t0003g0066 a0001c0001t0003g0070 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0008g0076 a0001c0002t0002g0142 a0001c0006t0003g0203	24	250	0.0960	425	c.259 others(444): Show c.259+22847_259+22848insTGGATGGGGATGGTGGTGATGGTGGT GGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTG GATGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTG GTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGG TAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGA TGGGGATGGTGGTGATGGTGGTGGTAGGGGGTGTGGATGGGGATGGTGGT GAGGATGGTGGTAGGGGGTGTGGATGGGGATGGTGGTGATGGTGGTGGTA GGGGGTGTGGATGGGGATGGTGGTGAGGATGGTGGTAGGGGGTGTGGATG GGGATGGTGGTGATGGTGGTGGTAGGGGCTGTGGATGGGGATGGTGGTG	EIPR1	ENSG00000032389.13	transcript	ENST00000382125.9	protein_coding	3/8			chr2	TogoVar
EXOC2_chr6_480154_698139	515574	A A	AGTCCTAG others(418): Show AGTCCTAGGAGGGAGCGAGAAGCCAGAGTGACCGTAATCATACAACGATT TCCAACAACAAAGGAGAGACGCACACAGCTGGGGCGGTCCTAGGAGGGAG CGAGAAGCCAGAGTGACCGTAATCATACAACGATTTCCAACAACAAAGGA GAGACGCACACAGCTGGGGCGGTCCTAGGAGGGAGCGAGAAGCCAGAGTG ACCGTAATCATACAACGATTTCCAACAACAAAGGAGAGACGCACACAGCT GGGGCGGTCCTAGGAGGGAGCGAGAAGCCAGAGTGACTGTAATCATACAA CGATTTCCAACAACAAAGGAGAGACGCACACAGCTGGGGCGGTCCTAGGA GGGAGCGAGAAGCCAGAGTGACCGTAATCATACAACGATTTCCAACAACA AAGGAGAGACGCACACAGCTGGGGCG	intron_variant intron_variant	MODIFIER	HG06807.hp1 NA18522.hp2 HG06807.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0027 a0001c0001t0003 a0001c0001t0027	a0001c0001t0003g0067 a0001c0001t0027g0272 a0001c0001t0003g0067 a0001c0001t0027g0272	2	272	0.0074	425	c.238 others(446): Show c.2381-15875_2381-15874insCGCCCCAGCTGTGTGCGTCTCTCC TTTGTTGTTGGAAATCGTTGTATGATTACGGTCACTCTGGCTTCTCGCTC CCTCCTAGGACCGCCCCAGCTGTGTGCGTCTCTCCTTTGTTGTTGGAAAT CGTTGTATGATTACAGTCACTCTGGCTTCTCGCTCCCTCCTAGGACCGCC CCAGCTGTGTGCGTCTCTCCTTTGTTGTTGGAAATCGTTGTATGATTACG GTCACTCTGGCTTCTCGCTCCCTCCTAGGACCGCCCCAGCTGTGTGCGTC TCTCCTTTGTTGTTGGAAATCGTTGTATGATTACGGTCACTCTGGCTTCT CGCTCCCTCCTAGGACCGCCCCAGCTGTGTGCGTCTCTCCTTTGTTGTTG GAAATCGTTGTATGATTACGGTCACTCTGGCTTCTCGCTCCCTCCTAGGA C	EXOC2	ENSG00000112685.14	transcript	ENST00000230449.9	protein_coding	23/27			chr6	TogoVar
FAM120B_chr6_170301758_170412067	170399210	G G	GGAAAGGT others(418): Show GGAAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAAC TATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAAC TCTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTG AGTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGG TAGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTACGT CATAAGCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTA GGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTGAGTGG GAAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACT ATGTCATAACCCTTAGGAGTGAGTGA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0105 a0001c0002t0001g0105	1	289	0.0035	425	c.269 others(444): Show c.2692+3655_2692+3656insTAGGAGTGAGTGGGAAAGGTAGAACT ATGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACT CTTAGGAGTGAGTGGGAAAGGTAGAACTATGTCATAACTCTTAGGAGTGA GTGGGGAAGGTAGAACTATGTCATAACTCTTAGGAGTGAGTGGGGAAGGT AGAACTATGTCATAACTCTTAGGAGTGAGTGAGAAAGGTAGAACTACGTC ATAAGCCTTAGGAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAG GAGTGAGTGGGGAAGGTAGAACTATGTCATAACTCTTAGAAGTGAGTGGG AAAGGTAGAACTATGTCATAACTTAGGAGTGAGTGGGAAAGGTAGAACTA TGTCATAACCCTTAGGAGTGAGTGAGAAAGGTAGAACTATGTCATAACT	FAM120B	ENSG00000112584.14	transcript	ENST00000476287.4	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr6	TogoVar
GAL3ST2_chr2_241771822_241809287	241806821	C C	CTCTGCAG others(418): Show CTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCC ACCCTCCCTCCCCGCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCC CCCCTCAGCCCAGGGATGTCTGCAGGCCACCTTCCCTCCCCCCTCAGCCC AGGGACCTCGGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACGTCTGC AGGCCACCCTCCCTCCCCCTCAACCCAGGGACGTCTGCAGGCCACCCTCC CTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCTTCCCTCCCCCCTCA GCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACGT CTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACGTCTGCAGGCCACC CTCCCTCCCCCCTCAGCCCAGGGATG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0245	1	314	0.0032	425	c.26 others(436): Show c.2655_*2656insTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAG GGATGTCTGCAGGCCACCCTCCCTCCCCGCTCAGCCCAGGGACCTCTGCA GGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACCTTCC CTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCCTCAA CCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGACGTC TGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATGTCTGCAGGCCACC TTCCCTCCCCCCTCAGCCCAGGGACCTCGGCAGGCCACCCTCCCTCCCCC TCAACCCAGGGACGTCTGCAGGCCACCCTCCCTCCCCCTCAACCCAGGGA CGTCTGCAGGCCACCCTCCCTCCCCCCTCAGCCCAGGGATG	GAL3ST2	ENSG00000154252.12	transcript	ENST00000192314.7	protein_coding		2535		chr2	TogoVar
GTPBP4_chr10_983434_1024932	1010845	A A	ACTCTGGT others(418): Show ACTCTGGTGGAGATGCTGGGCCCCTTCATTCTCCTGCATCCCTCCATCCT GACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATG CTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCTCCTGC ACCTCTTCCCTGTCCCGACACTCTGGTGGAGATGCTGGGCCTCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCCCCTACACCACCTTCCCCACCCCGAGACTCTGGTGGA GATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCATCCTGACTCTGCCTC CTGCACCTCTTCCCTGTCCCGACACT	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0234 a0001c0001t0001g0234	1	370	0.0027	425	c.134 others(442): Show c.1344+327_1344+328insCTGGTGGAGATGCTGGGCCCCTTCATTC TCCTGCATCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCCACCC CGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCCTCCA TCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCTGGTGGAG ATGCTGGGCCTCTTCATTCTCCTGCATCCCTCCATCCTGACTCTGCCCCC TACACCACCTTCCCCACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTC ATTCTCCTGCACCCCTCCATCCTGACTCTGCCCCCTACACCACCTTCCCC ACCCCGAGACTCTGGTGGAGATGCTGGGCCTCTTCATTCTCCTGCACCCC TCCATCCTGACTCTGCCTCCTGCACCTCTTCCCTGTCCCGACACTCT	GTPBP4	ENSG00000107937.19	transcript	ENST00000360803.9	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173126	C C	CTCTCTCT others(418): Show CTCTCTCTCCCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCCTCCC CCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCC CCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTGTCCCCC TCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTATCCCCCTCCCCCTCCC CCTCCCCCCCATCCCCCTCCCCCTCATCCCCCTCCCCCTCATCCCCCTCC CCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTC CCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCCCCTCCTTCCCT CTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTCTCTCCCCCCCCTCCCTC TCTCTCTCTCCCCCTCCTTCCCCCTG	intron_variant intron_variant	MODIFIER	HG02027.hp1 HG02027.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0007 a0001c0001t0002g0007	1	158	0.0063	425	c.11 others(446): Show c.1103+4101_*1103+4102insCCCCTCCCCCTCCTTCCCTCTCTC TCTCCCCCTCCCCTCCCCCTCTCTCTCCCCCTCCCCCCTCTCTCTCCCCC TCCCCCCTCTCTCTCCCCCTCCCCCCTCTCCCCTCCCCTCCCCCCTCTCT CTCCCCCTCTGTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCT ATCCCCCTCCCCCTCCCCCTCCCCCCCATCCCCCTCCCCCTCATCCCCCT CCCCCTCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCC TCTCTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCT CTCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTGTCTC TCTCCCCCCCCTCCCTCTCTCTCTCTCCCCCTCCTTCCCCCTGTCTCTCT C	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
JAKMIP3_chr10_132060946_132189858	132173137	C C	CCCCTCCC others(418): Show CCCCTCCCCCTCCTTCCCTCTCTCTCTCCCCCTCCCTCCCTCTCTCTCCC CCTCCCCTCCCCCCTCTCCCCTCCCCCTCTCTCCCCCTCCCCCTCCCCCT CCCCCCTCCCCTCCCCCCTCTCTCCCCCTCCCCTCCCCCCTCTCCCCCTC CCCTCCCCCCTCTCTCTCCCCCTCTCTCTCCCCCTCCCTCCCCCCTCTCC CCTCCCCCTCCCCCCTCCCCCTCCCCCTCCCCCCATCCCCCTCCCCCTCC TTCCCTCTCCCCCTCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTC TCCCCCCTCCTTCCCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCCCC CCCTCCTTCCCTCTCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCC TCCTCCTTCCCCCTGTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG02897.hp2 HG02897.hp2	a0002 a0002	a0002c0016 a0002c0016	a0002c0016t0014 a0002c0016t0014	a0002c0016t0014g0144 a0002c0016t0014g0144	1	158	0.0063	425	c.11 others(446): Show c.1103+4110_*1103+4111insCCCTCCTTCCCTCTCTCTCTCCCC CTCCCTCCCTCTCTCTCCCCCTCCCCTCCCCCCTCTCCCCTCCCCCTCTC TCCCCCTCCCCCTCCCCCTCCCCCCTCCCCTCCCCCCTCTCTCCCCCTCC CCTCCCCCCTCTCCCCCTCCCCTCCCCCCTCTCTCTCCCCCTCTCTCTCC CCCTCCCTCCCCCCTCTCCCCTCCCCCTCCCCCCTCCCCCTCCCCCTCCC CCCATCCCCCTCCCCCTCCTTCCCTCTCCCCCTCCCCCTCCTTCCCTCTC TCCCCCCTCCTTCCCTCTCTCCCCCCTCCTTCCCTCTCTCTCTCCCCCCC TCCTTCCCTCTCTCTCCCCCCCTCCTTCCCTCTCTCTCTCTCCCCCCCTC CTTCCCTCTCTCTCTCTCCTCCTCCTTCCCCCTGTCTCTCTCTCTCCCTC C	JAKMIP3	ENSG00000188385.13	transcript	ENST00000684848.1	protein_coding	23/23		INFO_REALIGN_3_PRIME	chr10	TogoVar
KBTBD11_chr8_1968677_2011936	1969684	T T	TATAAATA others(418): Show TATAAATATATACATATATAAATATATGAATATATAAAATATATAAATAT ATAAATATATAAATATATATAAATAAATATATAAATATATAAATATATAA ATAAATATATAAATATATAAATATAAATATATATTTATAGATATATAGAT TTTATGTTTAAAATATATATTTTATAGATTTTATATTTAAAATATATATT TATAGATTTTATATTTAAAAATATATTTTATATATTTTATACATAAAATA TAATATATAAAATATATAAATCATATAAAATTTATATTTTATGTATAAAT ATAAATGAATATAAAAATATATTATATGTTATATATTATATATTATTATG TTATATATTATATATTATTATATTATATATATTATAATATGTATTATATT ATATATTATATAATATAAAATATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00280.hp2 HG00323.hp1 others(74): Show HG00099.hp1 HG00280.hp2 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00597.hp1 HG00597.hp2 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG01074.hp1 HG01081.hp1 HG01106.hp1 HG01123.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01943.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02155.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp2 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02976.hp2 HG03041.hp2 HG03654.hp1 HG03688.hp1 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp2 NA18612.hp2 NA18747.hp2 NA18946.hp2 NA18952.hp1 NA18955.hp2 NA18962.hp2 NA18964.hp1 NA18967.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18971.hp1 NA18974.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18987.hp1 NA18992.hp1 NA19002.hp1 NA19003.hp1 NA19007.hp2 NA19030.hp2 NA19043.hp1 NA19060.hp2 NA19066.hp2 NA19074.hp1 NA19084.hp1	a0001 a0008 a0009 others(1): Show a0001 a0008 a0009 a0010	a0001c0001 a0001c0003 a0008c0007 others(2): Show a0001c0001 a0001c0003 a0008c0007 a0009c0008 a0010c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(16): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0010 a0001c0001t0013 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0032 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0047 a0001c0003t0001 a0008c0007t0001 a0009c0008t0001 a0010c0004t0034	a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(69): Show a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0020 a0001c0001t0001g0142 a0001c0001t0001g0154 a0001c0001t0001g0164 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0219 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0258 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0309 a0001c0001t0002g0007 a0001c0001t0002g0324 a0001c0001t0003g0087 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0003g0201 a0001c0001t0003g0242 a0001c0001t0005g0165 a0001c0001t0005g0266 a0001c0001t0007g0243 a0001c0001t0007g0275 a0001c0001t0007g0308 a0001c0001t0010g0008 a0001c0001t0010g0157 a0001c0001t0010g0205 a0001c0001t0010g0210 a0001c0001t0010g0259 a0001c0001t0013g0006 a0001c0001t0013g0149 a0001c0001t0013g0150 a0001c0001t0017g0123 a0001c0001t0021g0015 a0001c0001t0022g0177 a0001c0001t0022g0178 a0001c0001t0032g0148 a0001c0001t0038g0159 a0001c0001t0039g0232 a0001c0001t0040g0141 a0001c0001t0047g0214 a0001c0003t0001g0231 a0008c0007t0001g0207 a0009c0008t0001g0213 a0010c0004t0034g0262	77	389	0.1979	425	c.-51 others(436): Show c.-5160_-5159insATAAATATATACATATATAAATATATGAATATAT AAAATATATAAATATATAAATATATAAATATATATAAATAAATATATAAA TATATAAATATATAAATAAATATATAAATATATAAATATAAATATATATT TATAGATATATAGATTTTATGTTTAAAATATATATTTTATAGATTTTATA TTTAAAATATATATTTATAGATTTTATATTTAAAAATATATTTTATATAT TTTATACATAAAATATAATATATAAAATATATAAATCATATAAAATTTAT ATTTTATGTATAAATATAAATGAATATAAAAATATATTATATGTTATATA TTATATATTATTATGTTATATATTATATATTATTATATTATATATATTAT AATATGTATTATATTATATATTATATAATATAAAATATAAA	KBTBD11	ENSG00000176595.4	transcript	ENST00000320248.4	protein_coding		3992		chr8	TogoVar
KCNQ2_chr20_63395208_63477655	63442656	C C	CCAGTCAC others(418): Show CCAGTCACCACCACCACCATCACCAGCACCACCACCACCACCTCCATCAC CACCATCACCACCATGCACCACCTACCACCACCATCACCACCATCACCAT CACCACCATCACCATCACCGACCATCACCATTACCACCACCATGTACCAC CACTCATCACCATCACCATCACCACCAGCCACCACTCACCACCATCACCA CCACCACCACCACTCACCACCACCACCATCACCACCACCACCACCATCAC CACCACCACCACCACCTCACCACCATCACCACCATCAGCCACCACCACCA GCCATCACCACCATCACCAGCACCACCATCACCTTCACCGACCATCACCA TGTACCAGCCACCATTACCACCACCATCACCAGCACCATCTCCACCACCA CCACCAGCACCATCACCACCACCATG	intron_variant intron_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0059 a0002c0001t0001g0059	1	330	0.0030	425	c.691 others(440): Show c.691-126_691-125insCATGGTGGTGGTGATGGTGCTGGTGGTGGT GGTGGAGATGGTGCTGGTGATGGTGGTGGTAATGGTGGCTGGTACATGGT GATGGTCGGTGAAGGTGATGGTGGTGCTGGTGATGGTGGTGATGGCTGGT GGTGGTGGCTGATGGTGGTGATGGTGGTGAGGTGGTGGTGGTGGTGGTGA TGGTGGTGGTGGTGGTGATGGTGGTGGTGGTGAGTGGTGGTGGTGGTGGT GATGGTGGTGAGTGGTGGCTGGTGGTGATGGTGATGGTGATGAGTGGTGG TACATGGTGGTGGTAATGGTGATGGTCGGTGATGGTGATGGTGGTGATGG TGATGGTGGTGATGGTGGTGGTAGGTGGTGCATGGTGGTGATGGTGGTGA TGGAGGTGGTGGTGGTGGTGCTGGTGATGGTGGTGGTGGTGACTG	KCNQ2	ENSG00000075043.21	transcript	ENST00000359125.7	protein_coding	4/16			chr20	TogoVar
KIF26B_chr1_245149985_245714432	245443945	A A	AGTGGTCA others(418): Show AGTGGTCATCTCCCTCACTGTTCACCTAGAGGAGAGGTCATCTCCTTCAC TGTTCACCCTGCAGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCC TCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGT CATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCACCGTTCACCC TGCGGTCATCTCCCTCACCGTTCACCCTGTGGTCATCTCCCTCACTGTTC ACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCTCCCTTA CTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGGAGAGGT CATCTCCTTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCCTG CAGTCATCTCCCTCACTGTTCACCCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG02970.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0093 a0001c0004t0001g0093	1	160	0.0063	425	c.116 others(446): Show c.1166+24201_1166+24202insTGGTCATCTCCCTCACTGTTCACC TAGAGGAGAGGTCATCTCCTTCACTGTTCACCCTGCAGTCATCTCCCTCA CTGTTCACCCTGCGGTCATCTCCCTCACTGTTCACCTAGAGCGGTCATCT CCCTCACTGTTCACCTAGAGCGGTCATCTCCCTCACTGTTCACCTAGAGC GGTCATCTCCCTCACCGTTCACCCTGCGGTCATCTCCCTCACCGTTCACC CTGTGGTCATCTCCCTCACTGTTCACCCTGCGGTCATCTCCCTCACTGTT CACCTAGAGCGGTCATCTCCCTTACTGTTCACCTAGAGCGGTCATCTCCC TCACTGTTCACCTAGAGGAGAGGTCATCTCCTTCACTGTTCACCCTGCGG TCATCTCCCTCACTGTTCACCCTGCAGTCATCTCCCTCACTGTTCACCCT G	KIF26B	ENSG00000162849.16	transcript	ENST00000407071.7	protein_coding	4/14		INFO_REALIGN_3_PRIME	chr1	TogoVar
KLHDC4_chr16_87702812_87770986	87738956	C C	CCACACAC others(418): Show CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCACC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCA CCTCATCCACCCACACACCAGCACCT	intron_variant intron_variant	MODIFIER	HG02970.hp2 HG03130.hp2 NA19240.hp2 HG02970.hp2 HG03130.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0104 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0104	3	380	0.0079	425	c.507 others(442): Show c.507-8313_507-8312insAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGG TGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGAGATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLHDC4_chr16_87702812_87770986	87738956	C C	CCACACAC others(418): Show CCACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCAC ACACCAGCACCTCATCCATCCACACACCAGTATCTCATCCATCCACACAC CAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGC ACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCACCT CATCCATCCACACACCAGCACCTCATCCACACACCAGCACCTCATCCATC CACACACCAGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACA CACCAGCACCTCATCCATCCACACACCAGCACCTCATCCATCCACACACC AGCACCTCATCCATCCACACACCAGCACCTCATCCACCCACACACCAGCA CCTCATCCACCCACACACCAGCACCT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02622.hp2 HG02818.hp1 others(5): Show HG01167.hp2 HG02622.hp2 HG02818.hp1 NA18947.hp1 NA18999.hp1 NA19000.hp1 NA19003.hp2 NA19067.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0004 a0007c0008 a0001c0001 a0004c0004 a0007c0008	a0001c0001t0001 a0004c0004t0001 a0007c0008t0001 a0001c0001t0001 a0004c0004t0001 a0007c0008t0001	a0001c0001t0001g0046 a0001c0001t0001g0140 a0004c0004t0001g0053 others(5): Show a0001c0001t0001g0046 a0001c0001t0001g0140 a0004c0004t0001g0053 a0004c0004t0001g0087 a0004c0004t0001g0101 a0004c0004t0001g0102 a0004c0004t0001g0133 a0007c0008t0001g0144	8	380	0.0211	425	c.507 others(442): Show c.507-8313_507-8312insAGGTGCTGGTGTGTGGGTGGATGAGGTG CTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGG TGTGTGGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTG TGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTGGA TGGATGAGGTGCTGGTGTGTGGATGAGGTGCTGGTGTGTGGATGGATGAG GTGCTGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGC TGGTGTGTGGGTGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGT GTGTGGATGGATGAGATACTGGTGTGTGGATGGATGAGGTGCTGGTGTGT GGATGGATGAGGTGCTGGTGTGTGGATGGATGAGGTGCTGGTGTGTG	KLHDC4	ENSG00000104731.14	transcript	ENST00000270583.10	protein_coding	5/11			chr16	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(418): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAGG GAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGAA GAGGAAGAAGGAGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGGGG AGAGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGAGG AAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGGAGGAG AAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGAGGGGAGGAGGGGG AGGAGGGGGAGGAGGGCAGGAGGAGGGGGAGGGGGAGGAGGAGGAAGAGG AGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0020 a0020	a0020c0012 a0020c0012	a0020c0012t0001 a0020c0012t0001	a0020c0012t0001g0240 a0020c0012t0001g0240	1	316	0.0032	425	c.583 others(440): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCTCCTCCTGCCCTCCTCCCCCTCCTCCCC CTCCTCCCCTCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCC TCCTCCTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTC ATCTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCTCTCCCC CTCCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCTCCTTCTTCCTCTTCC TCTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTG ACCCCCTCCCCCTCCCCTCCTCCCTCTCCTTCCCCTCTTCCCTCTCCTCC CCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
KLK6_chr19_50953631_50974591	50959671	A A	AGAGAGAA others(418): Show AGAGAGAAAAGAAGAAGATGAAGACGAAGGAGGAGAAGGAGGAAGGGGAG GAGAGGGAAGAGGGGAAGGGAGAGGGAGGAGGGGAGGGGGAGGGGGTCAG GGAGATGGAGGAGGAGGAAGAGGAGGAGGAAAAGAGGGAGTGGAAGAGGA AGAGGAAGAAGGAGGGGGGAGGAGGGGAAGGAGAGGGAGGAGGGGGAGGG GGAGGGGGAGAGGGAGGAGGAGGAAGAGGAGAAGAGGCAGTGGAAGATGA AGAGGAAGAGGAAGAAGGAGGAGGAGGAAAAGAAGATGAATAAGAGGAGG AGGAGAAAATGAGGAAGAGGAGGAGGGGGAGGAGGAGGAGGGGAGGAGGG GGAGGAGGGGGAGGAGGGCAGGAGGGGGGAGGGGGAGGAGGAGGAAGAGG AGGAGGAAGAGGAGAAGGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0201 a0001c0001t0001g0201	1	316	0.0032	425	c.583 others(440): Show c.583-356_583-355insCTCTTCCTCCTTCTCCTCTTCCTCCTCCTC TTCCTCCTCCTCCCCCTCCCCCCTCCTGCCCTCCTCCCCCTCCTCCCCCT CCTCCCCTCCTCCTCCTCCCCCTCCTCCTCTTCCTCATTTTCTCCTCCTC CTCTTATTCATCTTCTTTTCCTCCTCCTCCTTCTTCCTCTTCCTCTTCAT CTTCCACTGCCTCTTCTCCTCTTCCTCCTCCTCCCTCTCCCCCTCCCCCT CCCCCTCCTCCCTCTCCTTCCCCTCCTCCCCCCTCCTTCTTCCTCTTCCT CTTCCACTCCCTCTTTTCCTCCTCCTCTTCCTCCTCCTCCATCTCCCTGA CCCCCTCCCCCTCCCCTCCTCCCTCTCCCTTCCCCTCTTCCCTCTCCTCC CCTTCCTCCTTCTCCTCCTTCGTCTTCATCTTCTTCTTTTCTCTC	KLK6	ENSG00000167755.15	transcript	ENST00000310157.7	protein_coding	6/6			chr19	TogoVar
LAMC1_chr1_183018420_183150592	183149453	T T	TCCTCACA others(418): Show TCCTCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCA CATCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACC ACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTCTC CTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCCCA CACCCCTGTCCTCCTCACACACCACACAGCCCACACCCCTCCTCACACAC CACACAGCTCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCT CCTCACACACCACACAGCCCACACCCCTCTCCTCCTCACACCACAGAGCC CACACCCCTCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACA CCACACAGCTCACATCCCTCTCCTCA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0060 a0001c0002t0002g0060	1	308	0.0033	425	c.66 others(436): Show c.6663_*6664insCCTCACACCACAGAGCCCACACCCCTCTCCTCAC ACACCACACAGCTCACATCCCTCTCCTCACACACCACACAGCTCACACCC CTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCACACACCACACA GCCCACACCCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCAC ACACCACACAGCCCACACCCCTGTCCTCCTCACACACCACACAGCCCACA CCCCTCCTCACACACCACACAGCTCACACCCCTCTCCTCACACACCACAC AGCTCACATCCCTCTCCTCACACACCACACAGCCCACACCCCTCTCCTCC TCACACCACAGAGCCCACACCCCTCTCCTCACACACCACACAGCTCACAC CCCTCTCCTCACACACCACACAGCTCACATCCCTCTCCTCA	LAMC1	ENSG00000135862.6	transcript	ENST00000258341.5	protein_coding		3862		chr1	TogoVar
LMF2_chr22_50497949_50512702	50504144	C C	CCCCCCCC others(418): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTCCACACCCCACCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCACCCCCGGTG CCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTGCCC GGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCAGTGCCCGGCCTT ACCCCTGCACCCCAGGCTCCACACCCCACCCCCGGTGCCCGGCCTTACCC CTGCACCCCGGGCTCCACACCCCCCCCCCCCCCCCGGTGCCCGGCCTTAC CCCTGCACCCCGGGCTCCACACCCCA	intron_variant intron_variant	MODIFIER	HG02559.hp1 NA19043.hp2 HG02559.hp1 NA19043.hp2	a0001 a0001	a0001c0018 a0001c0018	a0001c0018t0005 a0001c0018t0005	a0001c0018t0005g0021 a0001c0018t0005g0021	2	414	0.0048	425	c.171 others(442): Show c.1718+195_1718+196insTGGGGTGTGGAGCCCGGGGTGCAGGGGT AAGGCCGGGCACCGGGGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGG GTAAGGCCGGGCACCGGGGGTGGGGTGTGGAGCCTGGGGTGCAGGGGTAA GGCCGGGCACTGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGG GCACCGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCA CCGGGGGTGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGG GGGGGGGGGGGGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACC GGGGGTGGGGTGTGGAGCCTGGGGTGCAGGGGTAAGGCCGGGCACTGGGG GGGGTGTGGAGCCCGGGGTGCAGGGGTAAGGCCGGGCACCGGGGGGG	LMF2	ENSG00000100258.18	transcript	ENST00000474879.7	protein_coding	12/13			chr22	TogoVar
LRRC14_chr8_144512992_144530172	144513800	T T	TGAGGAGG others(418): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCTGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGGT GGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAG GGGGTCGGCGTGGGCGGTGGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01928.hp2 HG01928.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	414	0.0024	425	c.-43 others(436): Show c.-4353_-4352insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCTGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGA GGAGGGGTCGGCGGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCG GTGGGGAGAGAGGAGGGGGTCGGCGTGGGCGGTGGGGGAGA	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4191		chr8	TogoVar
LRRC14_chr8_144512992_144530172	144513844	C C	CGTGGGCA others(418): Show CGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAG GAGGGGGTCGGCCTGTGCGGTGGGGGAGTGAGGAGGGGTCGGCGTGGGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTC GGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTG AGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCG GTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGGTGGGGAGTGAGGAGGGGT CGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGA GAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGC GGTGGGGAGAGAGGAGGGGTCGGCGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0041 a0001c0001t0041	a0001c0001t0041g0002 a0001c0001t0041g0002	1	414	0.0024	425	c.-43 others(436): Show c.-4309_-4308insGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGG GCGGTGGGGAGTGAGGAGGGGGTCGGCCTGTGCGGTGGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGG GAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGT GGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAG GGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGGTGG GGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCG TGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGA GGGGTCGGCGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGG	LRRC14	ENSG00000160959.8	transcript	ENST00000292524.6	protein_coding		4147		chr8	TogoVar
LRRC36_chr16_67321815_67390204	67341007	G G	GTACTCTA others(418): Show GTACTCTACAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	194	0.0052	425	c.71- others(438): Show c.71-948_71-947insCTCTACAGAATATGTACTCTACATATTCTATA GAATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA GAATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA GAATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA GAATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA GAATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA GAATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA GAATATGTACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA GAATATGTACTCTACATATTCTATAGAATATGTACTCTACATA	LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
LRRC36_chr16_67321815_67390204	67341007	G G	GTATTCTA others(418): Show GTATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACATATTCTATAGAATATGTACTCTAC ATATTCTATAGAATATGTACTCTACA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01106.hp2 HG02135.hp2 others(2): Show HG00735.hp1 HG01106.hp2 HG02135.hp2 HG02145.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0151 others(2): Show a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0151 a0001c0001t0001g0159 a0001c0005t0001g0065	5	194	0.0258	425	c.71- others(438): Show c.71-766_71-765insGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATAGAATATG TACTCTACATATTCTATAGAATATGTACTCTACATATTCTATA	LRRC36	ENSG00000159708.18	transcript	ENST00000329956.11	protein_coding	1/13		INFO_REALIGN_3_PRIME	chr16	TogoVar
LUC7L_chr16_183990_234449	186136	G G	GGAGGAAC others(418): Show GGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCG ACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACA GCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGG GAACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACAC GGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGC GACACGGGGGAGGAACAGCGACACGGGAGGAACAGCGACACGGGGGAGGA ACAGCGACACGGGGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGG GGGAGGAACAGCGACACGGGGGAGGAACAGCGACACGGGGGGAACAGCGA CACGGGGGGAACAGCGACACGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0185 a0001c0001t0001g0185	1	350	0.0029	425	c.30 others(436): Show c.3061_*3062insTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCG CTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCC CGTGTCGCTGTTCCTCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCC CCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCT GTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTG TCGCTGTTCCTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCCC CCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTC CTCCCCCGTGTCGCTGTTCCTCCCCCGTGTCGCTGTTCCTC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2853		chr16	TogoVar
LUC7L_chr16_183990_234449	186986	G G	GGGAACAG others(418): Show GGGAACAGCGACACGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGAC ACGGGGGGAACAGCGACACGGGGGGAACAGCGACACGGGGGGAACAGCGA CACGGGAGGGAGGAACAGCGACACGGAGGGAACAGCGACACGGGGGGAAC AGCGACACGGGGAGGAACAGCGACACGGGGAGGAACAGCGACACGGAGGG AACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACACGGG GAGGAACAGCGACACGGGGGGAACAGCGACACGGGGGAGGAACAGCGACA CGGGGGGGGAACAGCGACACGGGAGGGAGGAACAGCGACACGGGAGGGAG GAACAGCGACACGGGGGGAACAGCGACACGGGGAGGAACAGCGACACGGG AGGGAGGAACAGCGACACGGGAGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0275 a0001c0001t0001g0275	1	350	0.0029	425	c.22 others(436): Show c.2211_*2212insTCCCTCCCGTGTCGCTGTTCCTCCCTCCCGTGTC GCTGTTCCTCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCTCC CGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTTCCCCCCCCGTGTCGCTG TTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCTCCCCGTGTC GCTGTTCCTCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCTCCGT GTCGCTGTTCCTCCCCGTGTCGCTGTTCCTCCCCGTGTCGCTGTTCCCCC CGTGTCGCTGTTCCCTCCGTGTCGCTGTTCCTCCCTCCCGTGTCGCTGTT CCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCCCCCCGTGTCGCTGT TCCTCCCTCCCGTGTCGCTGTTCCCCCCGTGTCGCTGTTCC	LUC7L	ENSG00000007392.17	transcript	ENST00000293872.13	protein_coding		2003		chr16	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(418): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGAC CCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGACC CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG GCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGGG CGGCTGGCCTGGCGGGGGGCTGACCC	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02886.hp2 HG02922.hp2 others(1): Show HG02486.hp1 HG02886.hp2 HG02922.hp2 NA20129.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0009 a0003c0004t0001g0010 a0003c0004t0001g0011 others(1): Show a0003c0004t0001g0009 a0003c0004t0001g0010 a0003c0004t0001g0011 a0003c0004t0001g0012	4	246	0.0163	425	c.171 others(442): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCGGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCCGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MACF1_chr1_39199695_39492138	39234647	A A	ACCGCCCC others(418): Show ACCGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCGGGGGGCTGA CCCCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCTGGCGGGGGGCTGAC CGCCCCACCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGGGGGCTGACC CCCCCGCCTCCCTCCCGGACGGGGCGGCTGGCCGGGCAGAGGGGCTCCTC ACTTCCCAGTAGGGGCGGCCGGGCAGAGGCGCCCCTCACCTCCCGGACGA GGCGGCTGGCTGGGCCGGGGGCTGACCCCCCCACCTCCCTCCCGGATGGG GTGGCTGGCCGGGCGGGGGGCTGACCCCCCCCACCTCCCTCCCAGACGGG GCGGCTGGCGGGGCGGGGGGCTGACCCCCCCACCTCCCTCCTGGATGGGG CGGCTGGCCTGGCGGGGGGCTGACCC	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0037 a0037	a0037c0051 a0037c0051	a0037c0051t0008 a0037c0051t0008	a0037c0051t0008g0233 a0037c0051t0008g0233	1	246	0.0041	425	c.171 others(442): Show c.171+3406_171+3407insGCCCCACCTCCCTCCCGGACGGGGCGGC TGGCCGGGCGGGGGGCTGACCCCCCCACCTCCCTCCCGGACGGGGCGGCT GGCCTGGCGGGGGGCTGACCGCCCCACCTCCCTCCCGGACGGGGCGGCTG GCCGGGCAGGGGGCTGACCCCCCCGCCTCCCTCCCGGACGGGGCGGCTGG CCGGGCAGAGGGGCTCCTCACTTCCCAGTAGGGGCGGCCGGGCAGAGGCG CCCCTCACCTCCCGGACGAGGCGGCTGGCTGGGCCGGGGGCTGACCCCCC CACCTCCCTCCCGGATGGGGTGGCTGGCCGGGCGGGGGGCTGACCCCCCC CACCTCCCTCCCAGACGGGGCGGCTGGCGGGGCGGGGGGCTGACCCCCCC ACCTCCCTCCTGGATGGGGCGGCTGGCCTGGCGGGGGGCTGACCCCC	MACF1	ENSG00000127603.32	transcript	ENST00000564288.6	protein_coding	2/100		INFO_REALIGN_3_PRIME	chr1	TogoVar
MBTPS1_chr16_84048763_84121942	84051247	C C	CCGCATGT others(418): Show CCGCATGTGAGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCT GCAAGGCCCACATGTGGGTAAGGAGAGTGGCAAGGCCCGCATGTGGGTAA GGAGAGCTACAAGGCCCGCATGTGCGTAAGGAGAGCTGCAAGGCCGCATG TGGGTAAGGAGAGCTGCAAGGCCCCATGTGGGTAAGGAGAGCTGCAAGGC CGTATGTGGGTAAGGAGAGCTGCAAGGCGCATGTGGGTAAGGAGAGCTGC AAGGCCCGCATGTGGGTAAGGAGAGCGGCAAGGCCCGCATGTGCGTAAGG AGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCTGCAAGGCCCCCATGTG CGTAAGGAGAGCTGCAAGGCCGCATGTGGGTAAGGAGAGCGGCAAGGCCC CCATGTGCGTAAGGAGAGCTGCAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03209.hp1 HG03471.hp1 HG03209.hp1 HG03471.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0009 a0001c0002t0009	a0001c0002t0009g0286 a0001c0002t0009g0289 a0001c0002t0009g0286 a0001c0002t0009g0289	2	424	0.0047	425	c.32 others(436): Show c.3201_*3202insCCTTGCAGCTCTCCTTACGCACATGGGGGCCTTG CCGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACGCACATGGG GGCCTTGCAGCTCTCCTTACCCACATGCGGCCTTGCAGCTCTCCTTACGC ACATGCGGGCCTTGCCGCTCTCCTTACCCACATGCGGGCCTTGCAGCTCT CCTTACCCACATGCGCCTTGCAGCTCTCCTTACCCACATACGGCCTTGCA GCTCTCCTTACCCACATGGGGCCTTGCAGCTCTCCTTACCCACATGCGGC CTTGCAGCTCTCCTTACGCACATGCGGGCCTTGTAGCTCTCCTTACCCAC ATGCGGGCCTTGCCACTCTCCTTACCCACATGTGGGCCTTGCAGCTCTCC TTACCCACATGCGGCCTTGCAGCTCTCCTTACTCACATGCG	MBTPS1	ENSG00000140943.18	transcript	ENST00000343411.8	protein_coding		2515		chr16	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(418): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02976.hp1 NA19065.hp1 NA19082.hp2 HG02976.hp1 NA19065.hp1 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0093 a0001c0001t0001g0035 a0001c0001t0001g0093	3	390	0.0077	425	c.112 others(442): Show c.1122-168_1122-167insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
METTL25B_chr1_156723469_156741960	156735534	T T	TAAAAAAA others(418): Show TAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTGT AGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGC TACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAG ACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACA AGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCT ACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTC CCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCG GAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACA GAGCGAGACGCCATCTCAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0150 a0001c0001t0002g0150	1	390	0.0026	425	c.112 others(442): Show c.1122-169_1122-168insTAGGCAGGCATGGTAGCTCATACTTGTA GACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGGCT ACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAAGA CCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCACAA GGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTCTA CTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGTCC CAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGCGG AGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAACAG AGCGAGACGCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	METTL25B	ENSG00000143303.12	transcript	ENST00000368216.9	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr1	TogoVar
MFSD3_chr8_144504070_144516213	144513800	T T	TGAGGAGG others(418): Show TGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCGTGGG CAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTGGGGAGTGAGGAGGGG TCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAG TGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCTGTGG GCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGG GTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGA GTGAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGGT GGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCGGTGGGGAGAGAGGAG GGGGTCGGCGTGGGCGGTGGGGGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	400	0.0025	425	c.26 others(436): Show c.2636_*2637insGAGGAGGGGTCGGCGTGGGCAGTGGGGAGTGAGG AGGGGTCGGCGTGGGCAGTGGGGAGTGAGGAGGGGTCGGCCTGGGCGGTG GGGAGTGAGGAGGGGTCGGCCTGTGCGGTGGGGAGTGAGGAGGGGTCGGC GTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGG AGGGGTCGGCTGTGGGCGGTGGGGAGTGAGGAGGGGTCGGCGTGGGCGGT GGGGAGTGAGGAGGGGTCGGCGTGGGCGGTGGGGAGTGAGGAGGGGTCGG CGTGGGCGGTGGGGAGTGAGGAGGGGGTCGGCGTGGGCGGTGGGGAGTGA GGAGGGGTCGGCGGTGGGCGGTGGGGAGAGAGGAGGGGTCGGCGTGGGCG GTGGGGAGAGAGGAGGGGGTCGGCGTGGGCGGTGGGGGAGA	MFSD3	ENSG00000167700.9	transcript	ENST00000301327.5	protein_coding		2588		chr8	TogoVar
MPPED1_chr22_43407014_43512848	43432718	A A	AGAGAGAT others(418): Show AGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAG GAGAGAGAGAGAAAGGGAGGGGAGAGAGAGGGAAAGAGAAAGGGAGGAGA GAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGGGAGGAGAGAGAGAGA AAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGATAAAGGGAGGAGAGAG AGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGATGGAGGAGAGAGA GATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAG AGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGG AGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGA GAAAGGGAGGAGAGAGAGAAAGGGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0002 a0001c0009t0002	a0001c0009t0002g0205 a0001c0009t0002g0205	1	250	0.0040	425	c.225 others(442): Show c.225-2310_225-2309insTAAAGGGAGGAGAGAGAGAAAGGGAGGA GAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGGGAGAGAGAGGGAAA GAGAAAGGGAGGAGAGAGAGGGAAAGAGAGAAGGGGAGGAGAGAGAAAGG GAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAT AAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAGA GATGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGAG AGAGAAAGGGAGGAGAGAGAGATAAAGGGAGGAGAGAGAGATAAAGGGAG GAGAGAGAGAAAGGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAGAAA GGGAGGAGAGAGAGAGAAAGGGAGGAGAGAGAGAAAGGGAGGAGAGA	MPPED1	ENSG00000186732.14	transcript	ENST00000443721.2	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr22	TogoVar
MRPL24_chr1_156732303_156746088	156735534	T T	TAAAAAAA others(418): Show TAAAAAAAAAAAAAAAAAAAAAAATAGGCAGGCATGGTAGCTCATACTTG TAGACCCAGCTACTTGGGAGGCTGAGGTGGGAGGATTGAGGTGTTTGAGG CTACAGTGAGCTATGATTGCCCTGCTGCTCTCCAGCCTGGGTGACAGGAA GACCCTGTCTTTAAAAATATATATTTGGGATGCCGAGGCTGGCAGATCAC AAGGTCAGGAGATCAAGACCATCCTGGTGAACATGGTGAAACCCCGTCTC TACTAAAAATACAAAAAAATTAGCTGGGCGTGGTGGCGAGTACCTGTAGT CCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAAACCGGGAGGC GGAGCTTGTAGTGAGCCGAGATTGTGCTACTGCACTCCAGCCTGGGCAAC AGAGCGAGACGCCATCTCAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp2 NA19065.hp2 HG02976.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0002 a0001c0001t0002g0017 a0001c0001t0002g0002 a0001c0001t0002g0017	2	364	0.0055	425	c.18 others(436): Show c.1863_*1864insTTTTTTTTGAGATGGCGTCTCGCTCTGTTGCCCA GGCTGGAGTGCAGTAGCACAATCTCGGCTCACTACAAGCTCCGCCTCCCG GTTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGG TACTCGCCACCACGCCCAGCTAATTTTTTTGTATTTTTAGTAGAGACGGG GTTTCACCATGTTCACCAGGATGGTCTTGATCTCCTGACCTTGTGATCTG CCAGCCTCGGCATCCCAAATATATATTTTTAAAGACAGGGTCTTCCTGTC ACCCAGGCTGGAGAGCAGCAGGGCAATCATAGCTCACTGTAGCCTCAAAC ACCTCAATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGTCTACAAGTATG AGCTACCATGCCTGCCTATTTTTTTTTTTTTTTTTTTTTTT	MRPL24	ENSG00000143314.12	transcript	ENST00000361531.6	protein_coding		1768		chr1	TogoVar
MTERF3_chr8_96234402_96266610	96250625	A A	AAGAAGAA others(418): Show AAGAAGAAAGAAGAAAGAAGAAAGAAGAAAGAAGAGGAAGAAGAAGAGGA AGAAGAAGAGGAAGAAGAAGAGGAAGAAGAAGAGGAAGAAGAAGAGGAAG AAGAAGAGGAAGAAGAAGAGGAAGAAGAAGAGGAAGAAGAAGAGGAAGAA GAAGAGGAAGAAGAAGAGGAAGAAGAAGAGGAAGAAGAAGAGGAAGAAGA AGAGGAAGAAGAAGAGGAAGAAGAAGAGGAAGAAGAAGAGGAAGAAGAAG AGGAAGAAGAAGAGGAAGAAGAAGAGGAAGAGGAAGAGGAAGAGGAAGAG GAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGA AGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAGAGGAAG AGGAAGAGGAAGAGGAAGAGGAAGAG	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0058 a0001c0001t0001g0058	1	294	0.0034	425	c.677 others(440): Show c.677+280_677+281insCTCTTCCTCTTCCTCTTCCTCTTCCTCTTC CTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCT CTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCTTCCTCT TCCTCTTCCTCTTCCTCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTC TTCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTT CTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCT TCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTC CTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCCTCTTCTTCTTCCT CTTCTTCTTCCTCTTCTTTCTTCTTTCTTCTTTCTTCTTTCTTCT	MTERF3	ENSG00000156469.9	transcript	ENST00000287025.4	protein_coding	4/7			chr8	TogoVar
NCAPH2_chr22_50503224_50529780	50504144	C C	CCCCCCCC others(418): Show CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTCCACACCCCACCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCACCCCCGGTG CCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCGGTGCCC GGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCAGTGCCCGGCCTT ACCCCTGCACCCCAGGCTCCACACCCCACCCCCGGTGCCCGGCCTTACCC CTGCACCCCGGGCTCCACACCCCCCCCCCCCCCCCGGTGCCCGGCCTTAC CCCTGCACCCCGGGCTCCACACCCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG03516.hp1 HG02559.hp2 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	2	384	0.0052	425	c.-41 others(436): Show c.-4194_-4193insCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCG GGCTCCACACCCCCCCCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTCC ACACCCCACCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACAC CCCCCCCCCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCAC ACCCCACCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCC CCCCCCCCGGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCC CCAGTGCCCGGCCTTACCCCTGCACCCCAGGCTCCACACCCCACCCCCGG TGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCCCCCCCCCCCCC GGTGCCCGGCCTTACCCCTGCACCCCGGGCTCCACACCCCA	NCAPH2	ENSG00000025770.19	transcript	ENST00000420993.7	protein_coding		4079		chr22	TogoVar
NEU4_chr2_241804193_241822413	241807401	G G	GCAGGCCA others(418): Show GCAGGCCACCCTCCCTCCCCCTCAGCCCAGGAACCTCTGCAGGCCACCCT CCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTC AGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCCCCTCAACCCAGGGAC CTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCAGGAACCTCCGCAGGCCA CCCTCCCTCCCCCCCTCAGCCCAGGGACCTCCGCAGGCCACCCTCCCTCC CCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCTCAACCCA GAGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAACCCAGAGACCTCCGC AGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCTCCGCAGGCCACTCTC CCTCCCCCCTCAGCCCAGGGACCTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	319	0.0031	425	c.-18 others(436): Show c.-1877_-1876insCAGGCCACCCTCCCTCCCCCTCAGCCCAGGAACC TCTGCAGGCCACCCTCCCTCCCCCTCAGCCCAGGGACCTCTGCAGGCCAC CCTCCCTCCCCCCTCAGCCCAGGGACCTCTGCAGGCCACCCTCCCTCCCC CCTCAACCCAGGGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAGCCAGG AACCTCCGCAGGCCACCCTCCCTCCCCCCCTCAGCCCAGGGACCTCCGCA GGCCACCCTCCCTCCCCCCTCAACCCAGGGACCTCCGCAGGCCACCCTCC CTCCCCCTCAACCCAGAGACCTCCGCAGGCCACCCTCCCTCCCCCCTCAA CCCAGAGACCTCCGCAGGCCACCCTCCCTCCTCCCTCAGCCCAGGGACCT CCGCAGGCCACTCTCCCTCCCCCCTCAGCCCAGGGACCTCC	NEU4	ENSG00000204099.12	transcript	ENST00000407683.6	protein_coding		1791		chr2	TogoVar
NFYA_chr6_41067974_41107403	41073924	T T	TCTCCGTT others(418): Show TCTCCGTTTCTTGCTCTTTCATTACTAAAACTTCGGGGACAGGTTTTATT TTCACTTTTTAGGGTGAGTTTTTCATTGTTGCTTAAGTGATTTTCTTAAT TCATTTGATTGTCACGTTATCCGCATTAGCAGATGAGATGATAGAGCTTA AGTAGTCTAAAAAACATGTATATTTGCCTTTGGAACGTTTTTTTGTTTGT TTTTGGATACAGGGCTTTCCTCTGTCATCCAGGCTGGAGTACAGTGGCGC AATCGTAGCTCACTAACCTGGAACTCCTGGGCTCAAGCCATCCTCCCTTC TTGTTCTCCCAAAACGTTGGGATTACAGGCATGAGCCACTGCGTCCTGAC CTGAAATAGATGTTTTAACCTTAGTATTTAAAAATAGGTATGTTCTGGTC ACTTCAAAATCACTAAATACTAAATA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02809.hp2 HG02257.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0022 a0001c0001t0001g0022	2	324	0.0062	425	c.-62 others(440): Show c.-62+852_-62+853insCTCTTTCATTACTAAAACTTCGGGGACAGG TTTTATTTTCACTTTTTAGGGTGAGTTTTTCATTGTTGCTTAAGTGATTT TCTTAATTCATTTGATTGTCACGTTATCCGCATTAGCAGATGAGATGATA GAGCTTAAGTAGTCTAAAAAACATGTATATTTGCCTTTGGAACGTTTTTT TGTTTGTTTTTGGATACAGGGCTTTCCTCTGTCATCCAGGCTGGAGTACA GTGGCGCAATCGTAGCTCACTAACCTGGAACTCCTGGGCTCAAGCCATCC TCCCTTCTTGTTCTCCCAAAACGTTGGGATTACAGGCATGAGCCACTGCG TCCTGACCTGAAATAGATGTTTTAACCTTAGTATTTAAAAATAGGTATGT TCTGGTCACTTCAAAATCACTAAATACTAAATACTCCGTTTCTTG	NFYA	ENSG00000001167.15	transcript	ENST00000341376.11	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr6	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(418): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGG GGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCG GGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGT GGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGGGTGAGGGAGTTGGGGGGTGGGGGTGGG GGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	356	0.0028	425	c.91+ others(438): Show c.91+432_91+433insGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTG GGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGG TGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAG TCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGG GGGTGAGGGAGTTGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NME4_chr16_392199_405754	397707	T T	TGTGGGGG others(418): Show TGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTC GGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGG GTGAGGGAGTCGGGGGGTGGGGGGGTGGGGGGGGTGAGGGAGTCGGGTGG GGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGT CGGGGGGTGGGGGGGTGGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGG TGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGTGGGGGGGTGAGGG AGTCGGGGGGTGGGGGTGGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGG GGGGGTGAGGGAGTCGGGGGGTGGGG	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	356	0.0028	425	c.91+ others(438): Show c.91+432_91+433insGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGT GAGGGAGTCGGGGGGTGGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGG GGGGTGGGGGGGGTGAGGGAGTCGGGTGGGGGTGGGGGGTGGGGGGGTGA GGGAGTCGGGGGGTGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGGGTGGGGG GGGGTGAGGGAGTCGGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGG GGGTGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGG GGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGGGTGAGGGAGTCGGGGGG TGGGGGTGGGGGGGTGAGGGAGTCGGGGGGTGGGGGTGGGGGG	NME4	ENSG00000103202.13	transcript	ENST00000219479.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr16	TogoVar
NOC4L_chr12_132139457_132157468	132149580	C C	CCCCTAAT others(418): Show CCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTA ATCCCCTCGGTGAGTGCCGCCGCCTCACTCATACCACACCCCTAATCCCC TCGGTGAGTGCGGCCGCCTCGCTCACACCCCTAATCCCCTCGGTGAGTGC CGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACATCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCT CACACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACC ACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCC CTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCCTACCACACCCCTAATC CCCTCGGTGAGTGCCGCCGCCTCGCT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0285 a0001c0001t0001g0285	1	294	0.0034	425	c.901 others(440): Show c.901+686_901+687insCCTAATCCCCTCGGTGAGTGCCGCCGCCTC GCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACTCAT ACCACACCCCTAATCCCCTCGGTGAGTGCGGCCGCCTCGCTCACACCCCT AATCCCCTCGGTGAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCC CTCGGTGAGTGCCGCCGCCTCACTCCTACCACATCCCTAATCCCCTCGGT GAGTGCCGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGC GGCCGCCTCGCTCACACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGC CTCACTCCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCACT CCTACCACACCCCTAATCCCCTCGGTGAGTGCCGCCGCCTCGCTC	NOC4L	ENSG00000184967.7	transcript	ENST00000330579.6	protein_coding	9/14		INFO_REALIGN_3_PRIME	chr12	TogoVar
NRCAM_chr7_108142649_108461436	108164138	T T	TGGGGTGG others(418): Show TGGGGTGGCGGTAATGAGAGGTCATACCGGGTGGGGTGGGGTAATGAGAG GTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCAGGTGGGGTGGG GTAGTGAGAGGTCATACCGGGTGGGGTGGCGGTAATGAGAGGTCATACCG GGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGGGGTAGTGAGA GGTCATACCGGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGTGG CGGTAATGAGAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACC GGGTGGGGTGGGGTAATGAGAGGTCATACCGGGTGGGGTGGCAGTAATGA GAGGTCATACCAGGTGGGGTGGGGTAGTGAGAGGTCATACCGGGTGGGGT GGGGTAATGAGAGGTCATACCGGGTG	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0008	1	208	0.0048	425	c.346 others(444): Show c.3466+2782_3466+2783insCACCCGGTATGACCTCTCATTACCCC ACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTC TCATTACTGCCACCCCACCCGGTATGACCTCTCATTACCCCACCCCACCC GGTATGACCTCTCACTACCCCACCCCACCTGGTATGACCTCTCATTACCG CCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACCCGGTATGACC TCTCACTACCCCACCCCACCCGGTATGACCTCTCACTACCCCACCCCACC CGGTATGACCTCTCATTACCGCCACCCCACCCGGTATGACCTCTCACTAC CCCACCCCACCTGGTATGACCTCTCACTACCCCACCCCACCTGGTATGAC CTCTCATTACCCCACCCCACCCGGTATGACCTCTCATTACCGCCACCCC	NRCAM	ENSG00000091129.22	transcript	ENST00000379028.8	protein_coding	30/32			chr7	TogoVar
NRXN2_chr11_64601174_64728197	64706162	A A	ATATATAA others(418): Show ATATATAATATATATTATATATATAAAGTATATATATAATATATATAATA TATATTATATATAAAGTATATATATAATATATATAATATATATTATATAT AAAGTATATATATAATATATATAATATATATTATATATAAAGTATATATA TAATATATATAATATATATTATATATATAAAGTATATATATAATATATAT AATATATATTATATATATAAAGTATATATATAATATATATAATATATATT ATATATATAAAGTATATATATAATATATATAATATATATTATATATATAA AGTATATATATAATATATAATATATATTATATATAAAGTATATATATAAT ATATATTATATATAAAGTATATATATAATATATATTATATATATATAAAA TATATAATATATATTATATATATAAG	intron_variant intron_variant	MODIFIER	HG02280.hp1 NA18945.hp2 NA19056.hp2 others(1): Show HG02280.hp1 NA18945.hp2 NA19056.hp2 NA19063.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0003 a0001c0003t0002 a0001c0003t0003	a0001c0003t0002g0230 a0001c0003t0002g0231 a0001c0003t0002g0232 others(1): Show a0001c0003t0002g0230 a0001c0003t0002g0231 a0001c0003t0002g0232 a0001c0003t0003g0153	4	308	0.0130	425	c.730 others(442): Show c.730+6807_730+6808insCTTATATATATAATATATATTATATATT TTATATATATATAATATATATTATATATATACTTTATATATAATATATAT TATATATATACTTTATATATAATATATATTATATATTATATATATACTTT ATATATATAATATATATTATATATATTATATATATACTTTATATATATAA TATATATTATATATATTATATATATACTTTATATATATAATATATATTAT ATATATTATATATATACTTTATATATATAATATATATTATATATATTATA TATATACTTTATATATAATATATATTATATATATTATATATATACTTTAT ATATAATATATATTATATATATTATATATATACTTTATATATAATATATA TTATATATATTATATATATACTTTATATATATAATATATATTATATA	NRXN2	ENSG00000110076.21	transcript	ENST00000265459.11	protein_coding	2/22			chr11	TogoVar
NT5C1A_chr1_39646229_39677107	39664497	T T	TCCTCTCC others(418): Show TCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCTCCTCCCCTCCCCTC CCCTCCCCCTCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCTCCCCCTCCC CTCCCCTCCCCTCCCCTCCCCTCCCCCCTCCCCTCCCCTCCCCTCCCCTC CCCTCCCCTCTCCTCTCCTCTCCTCTCCCCCTCCCCTCCCCCTCCCACCC TCCCCTTCCCTCCCCTCCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCC TCCCCTCCCCCTTCCCCTTCCCCTCCCCTCCCCCTTCCCCTTCCCCTCCC CTTCCCCTTCCCCTCCCCTCCCCTCCCCCTTCCCCTCCCCTCTCCCCTTC CCCTCCCCTCCCCCTTTCCCCTCCCCCTTCCCCTCTCCCCCTTCCCCTTC CCTCTCTCCCGCTTCCCCTCCCCTCC	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18963.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0053 a0001c0001t0053	a0001c0001t0053g0151 a0001c0001t0053g0151	1	326	0.0031	425	c.433 others(442): Show c.433+1023_433+1024insGGAGGGGAGGGGAAGCGGGAGAGAGGGA AGGGGAAGGGGGAGAGGGGAAGGGGGAGGGGAAAGGGGGAGGGGAGGGGA AGGGGAGAGGGGAGGGGAAGGGGGAGGGGAGGGGAGGGGAAGGGGAAGGG GAGGGGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGAAGGGGGAGGGGAGG GGAAGGGGAAGGGGGAGGGGAGGGGAAGGGGGAGGGGAGGGAAGGGGAGG GTGGGAGGGGGAGGGGAGGGGGAGAGGAGAGGAGAGGAGAGGGGAGGGGA GGGGAGGGGAGGGGAGGGGAGGGGGGAGGGGAGGGGAGGGGAGGGGAGGG GAGGGGGAGGGGAGGGGAGGGGGAGGGGAGGGGAGGGGAGGGGGAGGGGA GGGGAGGGGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGGAGAGG	NT5C1A	ENSG00000116981.4	transcript	ENST00000235628.2	protein_coding	3/5			chr1	TogoVar
NXN_chr17_794310_984776	841430	A A	ACCCGCGA others(418): Show ACCCGCGAGCAGGTCCTCCCGACCACGGAGCATCTCACACGGGCGAGCAG GTCCACCCTGACCACGGCGCATCTCACGCCGGCGAGCAGGTCCCCCCGAC CACAGAGCATCTCACACGGGCAAGCAGGTCCACCCTGACCACGGCGCATC TCACGCCGGCGAGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCG AGCAGGTCCCCCCTGACCACGGAGCATCTCACACGGGCGAGCAGGTCCAC CCTGACCACAGCGCATCTCACACCCGCGAGCAGGTCCTCCCGACCATGGA GCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGCATCTCACAC GGGCGAGCAGGTCCCCCCCGACCACAGCGCATCTCATGCCGGCGAGCAGG TCCCCCCGACCACAGCGCATCTCATG	intron_variant intron_variant	MODIFIER	NA19004.hp2 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	242	0.0041	425	c.361 others(444): Show c.361-15353_361-15352insCATGAGATGCGCTGTGGTCGGGGGGA CCTGCTCGCCGGCATGAGATGCGCTGTGGTCGGGGGGGACCTGCTCGCCC GTGTGAGATGCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGC TCCATGGTCGGGAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAGG GTGGACCTGCTCGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCT CGCCCGTGTGAGATGCTCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGA GATGCGCCGTGGTCAGGGTGGACCTGCTTGCCCGTGTGAGATGCTCTGTG GTCGGGGGGACCTGCTCGCCGGCGTGAGATGCGCCGTGGTCAGGGTGGAC CTGCTCGCCCGTGTGAGATGCTCCGTGGTCGGGAGGACCTGCTCGCGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	841625	G G	GGCGAGCA others(418): Show GGCGAGCAGGTCCACCCTGACCACAGCGCATCTCACACGGGCGAGCAGGT CCACCCTGACCACGGAGCATCTCACACCCGCGAGCAGGTCCACCCTGACC ACGGAGCATCTCACACGGGCGAGCAGGTCCTCCCGACCATGGAGCATCTC ACGCCGGCGAGCAGGTCCACCCTGACCACGGCGCATCTCACACGGGCGAG CAGGTCCCCCCTGACCACAGCGCATCTCACACCCGCGAGCAGGTCCTCCC GACCATGGAGCATCTCACGCCGGCGAGCAGGTCCCCCCTGACCACGGCGC ATCTCACACGGGCGAGCAGGTCCCCCCGACCACGGCGCATCTCACACCCA CGGGCAGGTCCCCCCGACCACGGCGCATCTCACACGGGCGAGCAGGTCCC CCCTGACCACAGCGCATCTCACGCCA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0027 a0001c0001t0003g0027	1	242	0.0041	425	c.361 others(444): Show c.361-15548_361-15547insTGGCGTGAGATGCGCTGTGGTCAGGG GGGACCTGCTCGCCCGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCCCG TGGGTGTGAGATGCGCCGTGGTCGGGGGGACCTGCTCGCCCGTGTGAGAT GCGCCGTGGTCAGGGGGGACCTGCTCGCCGGCGTGAGATGCTCCATGGTC GGGAGGACCTGCTCGCGGGTGTGAGATGCGCTGTGGTCAGGGGGGACCTG CTCGCCCGTGTGAGATGCGCCGTGGTCAGGGTGGACCTGCTCGCCGGCGT GAGATGCTCCATGGTCGGGAGGACCTGCTCGCCCGTGTGAGATGCTCCGT GGTCAGGGTGGACCTGCTCGCGGGTGTGAGATGCTCCGTGGTCAGGGTGG ACCTGCTCGCCCGTGTGAGATGCGCTGTGGTCAGGGTGGACCTGCTCGC	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
OARD1_chr6_41059772_41077356	41073924	T T	TCTCCGTT others(418): Show TCTCCGTTTCTTGCTCTTTCATTACTAAAACTTCGGGGACAGGTTTTATT TTCACTTTTTAGGGTGAGTTTTTCATTGTTGCTTAAGTGATTTTCTTAAT TCATTTGATTGTCACGTTATCCGCATTAGCAGATGAGATGATAGAGCTTA AGTAGTCTAAAAAACATGTATATTTGCCTTTGGAACGTTTTTTTGTTTGT TTTTGGATACAGGGCTTTCCTCTGTCATCCAGGCTGGAGTACAGTGGCGC AATCGTAGCTCACTAACCTGGAACTCCTGGGCTCAAGCCATCCTCCCTTC TTGTTCTCCCAAAACGTTGGGATTACAGGCATGAGCCACTGCGTCCTGAC CTGAAATAGATGTTTTAACCTTAGTATTTAAAAATAGGTATGTTCTGGTC ACTTCAAAATCACTAAATACTAAATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01358.hp2 HG02257.hp1 HG02809.hp2 HG01358.hp2 HG02257.hp1 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0059 a0001c0001t0001g0001 a0001c0001t0001g0059	3	370	0.0081	425	c.-17 others(436): Show c.-1731_-1730insTATTTAGTATTTAGTGATTTTGAAGTGACCAGAA CATACCTATTTTTAAATACTAAGGTTAAAACATCTATTTCAGGTCAGGAC GCAGTGGCTCATGCCTGTAATCCCAACGTTTTGGGAGAACAAGAAGGGAG GATGGCTTGAGCCCAGGAGTTCCAGGTTAGTGAGCTACGATTGCGCCACT GTACTCCAGCCTGGATGACAGAGGAAAGCCCTGTATCCAAAAACAAACAA AAAAACGTTCCAAAGGCAAATATACATGTTTTTTAGACTACTTAAGCTCT ATCATCTCATCTGCTAATGCGGATAACGTGACAATCAAATGAATTAAGAA AATCACTTAAGCAACAATGAAAAACTCACCCTAAAAAGTGAAAATAAAAC CTGTCCCCGAAGTTTTAGTAATGAAAGAGCAAGAAACGGAG	OARD1	ENSG00000124596.17	transcript	ENST00000424266.7	protein_coding		1569		chr6	TogoVar
PARP10_chr8_143972158_143991460	143981315	G G	GTGATGGT others(418): Show GTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGA CGACAGTGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAG TGGTGAAGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGT GGTGGTGATGGTGGTGACGACAGTGAGTGGTGAAGGTGATGGTGATGATG GTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACGACAG TGAGTGGTGAAGGTGATGGTGATGATGGTGGTGACGACAGTGAGTGGTGA AGGTGGTGGTGATGATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGAT GATGGTGGTGACGACAGTGAGTGGTGAAGGTGGTGGTGATGGTGGTGACG ACAGTGAGTGGTGAAGGTGATGGTGA	intron_variant intron_variant	MODIFIER	NA18982.hp2 NA19000.hp1 NA19060.hp2 NA18982.hp2 NA19000.hp1 NA19060.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0029 a0002c0002t0002g0228 a0002c0002t0002g0029 a0002c0002t0002g0228	3	380	0.0079	425	c.255 others(444): Show c.2556+1616_2556+1617insTCACCATCACCTTCACCACTCACTGT CGTCACCACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATC ATCACCACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCT TCACCACTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCA CTGTCGTCACCACCATCACCACCACCTTCACCACTCACTGTCGTCACCAC CATCATCACCATCACCTTCACCACTCACTGTCGTCACCACCATCACCACC ACCTTCACCACTCACTGTCGTCACCACCATCATCACCACCACCTTCACCA CTCACTGTCGTCACCACCATCATCACCATCACCTTCACCACTCACTGTCG TCACCACCATCACCACCACCTTCACCACTCACTGTCGTCACCACCATCA	PARP10	ENSG00000178685.14	transcript	ENST00000313028.12	protein_coding	9/10			chr8	TogoVar
PAX1_chr20_21700664_21723481	21721646	T T	TATGTATT others(418): Show TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATAACATATATGTATTACATATATGTATTACATATATGTATTACATAT ATAACATATATGTATTACATATATGTATTACATATATAACATATATGTAT TACATATATGTATTACATATATAACATATATGTATTACATATATGTAATA CATATATAACATATATGTATTACATATATGTAATACATATATAACATGTA TTACATATATGTAATACATATATAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01361.hp2 HG02683.hp2 HG04184.hp2 HG01361.hp2 HG02683.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0005 a0001c0001t0011g0006 a0001c0001t0011g0005 a0001c0001t0011g0006	3	400	0.0075	425	c.70 others(436): Show c.7084_*7085insATGTATTACATATATGTATTACATATATAACATA TATGTATTACATATATGTATTACATATATAACATATATGTATTACATATA TGTATTACATATATAACATATATGTATTACATATATGTATTACATATATA ACATATATGTATTACATATATGTATTACATATATAACATATATGTATTAC ATATATGTATTACATATATAACATATATGTATTACATATATGTATTACAT ATATGTATTACATATATAACATATATGTATTACATATATGTATTACATAT ATAACATATATGTATTACATATATGTATTACATATATAACATATATGTAT TACATATATGTAATACATATATAACATATATGTATTACATATATGTAATA CATATATAACATGTATTACATATATGTAATACATATATAAC	PAX1	ENSG00000125813.15	transcript	ENST00000613128.5	protein_coding		3166		chr20	TogoVar

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